diff --git a/modules/m16_graphs/Resources/doid.obo b/modules/m16_graphs/Resources/doid.obo new file mode 100644 index 0000000..94d8388 --- /dev/null +++ b/modules/m16_graphs/Resources/doid.obo @@ -0,0 +1,107992 @@ +format-version: 1.2 +data-version: releases/2015-12-04 +date: 04:12:2015 17:38 +saved-by: elvira +auto-generated-by: OBO-Edit 2.3.1 +subsetdef: DO_cancer_slim "DO cancer slim" +subsetdef: DO_MGI_slim "DO_MGI_slim" +subsetdef: GOLD "GOLD" +subsetdef: gram-negative_bacterial_infectious_disease "gram-negative bacterial infectious disease" +subsetdef: gram-positive_bacterial_infectious_disease "gram-positive bacterial infectious disease" +subsetdef: NCIthesaurus "NCIt" +subsetdef: sexually_transmitted_infectious_disease "sexually transmitted infectious disease" +subsetdef: tick-borne_infectious_disease "tick-borne infectious disease" +subsetdef: TopNodes_DOcancerslim "TopNodes_DOcancerslim" +subsetdef: zoonotic_infectious_disease "zoonotic infectious disease" +default-namespace: disease_ontology +remark: This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/. +ontology: doid + +[Term] +id: DOID:0001816 +name: angiosarcoma +alt_id: DOID:267 +alt_id: DOID:4508 +def: "A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces." [url:http\://emedicine.medscape.com/article/276512-overview, url:http\://en.wikipedia.org/wiki/Hemangiosarcoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/23327728] +subset: NCIthesaurus +synonym: "hemangiosarcoma" EXACT [] +xref: MSH:D006394 +xref: NCI:C3088 +xref: NCI:C9275 +xref: SNOMEDCT_US_2015_03_01:33176006 +xref: SNOMEDCT_US_2015_03_01:39000009 +xref: SNOMEDCT_US_2015_03_01:403977003 +xref: UMLS_CUI:C0018923 +xref: UMLS_CUI:C0854893 +is_a: DOID:1115 ! sarcoma + +[Term] +id: DOID:0002116 +name: pterygium +xref: ICD10CM:H11.0 +xref: ICD10CM:H11.00 +xref: ICD10CM:H11.009 +xref: ICD9CM:372.4 +xref: ICD9CM:372.40 +xref: MSH:D011625 +xref: SNOMEDCT_US_2015_03_01:155165000 +xref: SNOMEDCT_US_2015_03_01:193879003 +xref: SNOMEDCT_US_2015_03_01:193884009 +xref: SNOMEDCT_US_2015_03_01:77489003 +xref: UMLS_CUI:C0033999 +is_a: DOID:10124 ! corneal disease +created_by: laronhughes +creation_date: 2010-06-30T02:44:30Z + +[Term] +id: DOID:0014667 +name: disease of metabolism +def: "A disease that involving errors in metabolic processes of building or degradation of molecules." [url:http\://www.ncbi.nlm.nih.gov/books/NBK22259/] +subset: NCIthesaurus +synonym: "metabolic disease " EXACT [SNOMEDCT_2005_07_31:75934005] +xref: ICD10CM:E88.9 +xref: ICD9CM:277.9 +xref: MSH:D008659 +xref: NCI:C3235 +xref: SNOMEDCT_US_2015_03_01:154733004 +xref: SNOMEDCT_US_2015_03_01:190961002 +xref: SNOMEDCT_US_2015_03_01:267456000 +xref: SNOMEDCT_US_2015_03_01:30390004 +xref: SNOMEDCT_US_2015_03_01:75934005 +xref: UMLS_CUI:C0025517 +is_a: DOID:4 ! disease + +[Term] +id: DOID:0050001 +name: Actinomadura madurae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050002 +name: Actinomadura pelletieri infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050003 +name: Streptomyces somaliensis infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050004 +name: seminal vesicle acute gonorrhea +xref: SNOMEDCT_US_2015_03_01:301990003 +xref: UMLS_CUI:C0578661 +is_a: DOID:10400 ! gonococcal seminal vesiculitis + +[Term] +id: DOID:0050007 +name: cutaneous strongyloidiasis +def: "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050009 +name: intestinal strongyloidiasis +def: "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh] +is_obsolete: true + +[Term] +id: DOID:0050010 +name: Mansonella perstans infectious disease +def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050011 +name: Mansonella streptocerca infectious disease +def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050012 +name: chikungunya +def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash." [url:http\://en.wikipedia.org/wiki/Chikungunya_virus] +subset: zoonotic_infectious_disease +synonym: "Chikungunya fever" EXACT [] +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050013 +name: carbohydrate metabolism disease +def: "An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism." [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:0050014 +name: epizootic hemorrhagic disease +def: "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf] +synonym: "EHD" RELATED [] +is_obsolete: true + +[Term] +id: DOID:0050015 +name: Rocio virus encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome." [url:http\://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17622628, url:http\://www.scielo.br/pdf/rsp/v20n3/01.pdf] +is_obsolete: true + +[Term] +id: DOID:0050024 +name: Ehrlichia ewingii ehrlichiosis +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050025 +name: human granulocytic anaplasmosis +alt_id: DOID:0050021 +alt_id: DOID:0050022 +def: "An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "HGE" RELATED [] +synonym: "human granulocytic ehrlichiosis" EXACT [] +is_a: DOID:10242 ! ehrlichiosis + +[Term] +id: DOID:0050026 +name: human monocytic ehrlichiosis +alt_id: DOID:14091 +def: "An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "Ehrlichiosis chafeensis" RELATED [] +is_a: DOID:10242 ! ehrlichiosis + +[Term] +id: DOID:0050032 +name: mineral metabolism disease +def: "An acquired metabolic disease that is characterized by abnormal mineral metabolism." [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:0050035 +name: African tick-bite fever +alt_id: DOID:0050034 +alt_id: DOID:0050036 +def: "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Rickettsia africae spotted fever" EXACT [] +synonym: "south african tick-bite fever" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050041 +name: Astrakhan spotted fever +def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [url:http\://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050042 +name: Indian tick typhus +def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050043 +name: Israeli tick typhus +def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Israeli spotted fever" RELATED [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050046 +name: Far Eastern spotted fever +def: "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy." [url:http\://www.cdc.gov/otherspottedfever/index.html, url:www.cdc.gov/eid/content/16/8/pdfs/1306.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050047 +name: Flinders Island spotted fever +alt_id: DOID:0050048 +def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy." [url:http\://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "FISF" RELATED [] +synonym: "Thai tick typhus" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050050 +name: Japanese spotted fever +alt_id: DOID:0050049 +def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities." [url:http\://www.cdc.gov/otherspottedfever/index.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "oriental spotted fever" EXACT [] +synonym: "Rickettsia japonica spotted fever" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050051 +name: Rickettsia parkeri spotted fever +def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "maculatum infection" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050052 +name: Rocky Mountain spotted fever +alt_id: DOID:0050056 +alt_id: DOID:1708 +def: "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Brazillian spotted" RELATED [] +synonym: "Choix" RELATED [] +synonym: "Exanthematic typhus of Sao Paulo" RELATED [] +synonym: "Fiebre maculosa" RELATED [] +synonym: "Fiebre manchada" RELATED [] +synonym: "Sao Paulo typhus" RELATED [] +synonym: "So Paulo fever" RELATED [] +synonym: "Tick typhus " RELATED [] +synonym: "Tobia fever" RELATED [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050053 +name: Rickettsia honei spotted fever +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050059 +name: oropharyngeal anthrax +def: "A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite." [url:http\://emedicine.medscape.com/article/212127-overview#a0104] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:13386 ! gastrointestinal anthrax + +[Term] +id: DOID:0050061 +name: erysipeloid +def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin." [url:http\://emedicine.medscape.com/article/1054170-overview, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001656/] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:0050063 +name: abortive plague +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050065 +name: cutaneous listeriosis +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050066 +name: Listeria meningoencephalitis +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050067 +name: Listeria septicaemia +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050068 +name: pestis minor +def: "A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration." [url:www.cfsph.iastate.edu/Factsheets/pdfs/plague.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:10773 ! bubonic plague + +[Term] +id: DOID:0050069 +name: Yersinia pestis infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050070 +name: plague meningitis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050072 +name: adiaspiromycosis +def: "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens." [url:http\://www.chestjournal.org/content/97/5/1171.abstract, url:http\://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract] +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:0050073 +name: invasive aspergillosis +def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm] +is_a: DOID:13564 ! aspergillosis + +[Term] +id: DOID:0050074 +name: tonsillar aspergillosis +def: "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species." [url:http\://www.ncbi.nlm.nih.gov/pubmed/792373] +is_obsolete: true + +[Term] +id: DOID:0050075 +name: pulmonary blastomycosis +alt_id: DOID:0050076 +alt_id: DOID:0050077 +def: "A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules." [url:http\://chestjournal.chestpubs.org/content/121/3/677.full] +is_obsolete: true + +[Term] +id: DOID:0050078 +name: cervix tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050079 +name: niacin deficiency +is_obsolete: true + +[Term] +id: DOID:0050080 +name: iodine deficiency +is_obsolete: true + +[Term] +id: DOID:0050082 +name: hepatic Torque teno virus infectious disease +alt_id: DOID:0050081 +def: "A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion." [url:https\://www.doria.fi/bitstream/handle/10024/36074/humantor.pdf?sequence=1] +synonym: "human circovirus infectious disease" RELATED [] +synonym: "Transfussion-transmitted virus liver infection" EXACT [] +synonym: "TT virus liver infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050083 +name: Keshan disease +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:0050084 +name: rhinotracheitis +def: "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis] +synonym: "feline coryza" EXACT [] +synonym: "feline influenza" EXACT [] +synonym: "Feline viral rhinotracheitis" EXACT [] +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:0050085 +name: entomophthoromycosis +def: "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales." [url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm] +is_obsolete: true + +[Term] +id: DOID:0050086 +name: cutaneous mucormycosis +def: "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/, url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm, url:http\://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf] +is_obsolete: true + +[Term] +id: DOID:0050088 +name: gastrointestinal mucormycosis +def: "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16020690] +is_obsolete: true + +[Term] +id: DOID:0050089 +name: pulmonary mucormycosis +def: "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis." [url:http\://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +is_obsolete: true + +[Term] +id: DOID:0050090 +name: rhinocerebral mucormycosis +def: "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197h.html] +is_obsolete: true + +[Term] +id: DOID:0050091 +name: disseminated paracoccidioidomycosis +def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] +is_obsolete: true + +[Term] +id: DOID:0050092 +name: pulmonary paracoccidioidomycosis +def: "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] +is_obsolete: true + +[Term] +id: DOID:0050093 +name: disseminated sporotrichosis +def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus." [url:http\://en.wikipedia.org/wiki/Sporotrichosis] +is_obsolete: true + +[Term] +id: DOID:0050094 +name: lymphocutaneous sporotrichosis +def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate." [url:http\://emedicine.medscape.com/article/228723-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/] +is_obsolete: true + +[Term] +id: DOID:0050095 +name: pulmonary sporotrichosis +def: "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes." [url:http\://en.wikipedia.org/wiki/Sporotrichosis] +is_obsolete: true + +[Term] +id: DOID:0050096 +name: tinea barbae +def: "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules." [url:http\://emedicine.medscape.com/article/1091252-overview, url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_barbae.htm] +synonym: "dermatophytosis of beard" EXACT [] +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:0050097 +name: ectothrix infectious disease +def: "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft." [url:http\://emedicine.medscape.com/article/1091351-overview, url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm] +is_a: DOID:4337 ! tinea capitis + +[Term] +id: DOID:0050098 +name: Microsporum audouinii tinea capitis +def: "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html] +is_obsolete: true + +[Term] +id: DOID:0050099 +name: Microsporum canis tinea capitis +def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html] +is_obsolete: true + +[Term] +id: DOID:0050100 +name: Microsporum distortum tinea capitis +def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html] +is_obsolete: true + +[Term] +id: DOID:0050101 +name: Microsporum ferrugineum tinea capitis +def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html] +is_obsolete: true + +[Term] +id: DOID:0050102 +name: Microsporum gypseum tinea capitis +def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions." [url:http\://archderm.highwire.org/cgi/reprint/64/3/309.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html, url:http\://www.springerlink.com/content/q856g32375864654/fulltext.pdf] +is_obsolete: true + +[Term] +id: DOID:0050103 +name: Microsporum nanum tinea capitis +def: "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans." [url:http\://www.jstor.org/stable/pdfplus/3756652.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html] +is_obsolete: true + +[Term] +id: DOID:0050104 +name: Trichophyton verrucosum tinea capitis +def: "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html] +is_obsolete: true + +[Term] +id: DOID:0050105 +name: endothrix infectious disease +def: "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/] +is_a: DOID:4337 ! tinea capitis + +[Term] +id: DOID:0050106 +name: Trichophyton soudanense tinea capitis +def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html] +is_obsolete: true + +[Term] +id: DOID:0050107 +name: Trichophyton tonsurans tinea capitis +def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html] +is_obsolete: true + +[Term] +id: DOID:0050108 +name: Trichophyton violaceum tinea capitis +def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like \"black dots\"." [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html] +is_obsolete: true + +[Term] +id: DOID:0050110 +name: Trichophyton schoenleinii tinea capitis +def: "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html] +is_obsolete: true + +[Term] +id: DOID:0050111 +name: Microsporum fulvum tinea capitis +def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html] +is_obsolete: true + +[Term] +id: DOID:0050112 +name: Trichophyton megninii tinea capitis +def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii." [url:http\://emedicine.medscape.com/article/787217-overview, url:http\://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm] +is_obsolete: true + +[Term] +id: DOID:0050113 +name: Trichophyton equinum tinea capitis +def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html] +is_obsolete: true + +[Term] +id: DOID:0050115 +name: Trichophyton yaoundei tinea capitis +def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions." [url:http\://en.wikipedia.org/wiki/Trichophyton, url:http\://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf] +is_obsolete: true + +[Term] +id: DOID:0050116 +name: tinea imbricata +def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." [url:http\://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata] +is_a: DOID:12179 ! tinea corporis + +[Term] +id: DOID:0050117 +name: disease by infectious agent +alt_id: DOID:10115 +alt_id: DOID:11078 +alt_id: DOID:1304 +alt_id: DOID:1321 +alt_id: DOID:2040 +alt_id: DOID:2288 +alt_id: DOID:3099 +alt_id: DOID:4120 +alt_id: DOID:4620 +alt_id: DOID:5256 +alt_id: DOID:945 +alt_id: DOID:95 +alt_id: DOID:9532 +alt_id: DOID:9696 +def: "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions." [DO:wk, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726] +subset: NCIthesaurus +synonym: "infectious disease" EXACT [] +xref: ICD9CM:079.0 +xref: UMLS_CUI:C0001485 +is_a: DOID:4 ! disease + +[Term] +id: DOID:0050118 +name: La Crosse encephalitis +alt_id: DOID:10840 +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] +subset: zoonotic_infectious_disease +synonym: "California Encephalitis" EXACT [MTHICD9_2006:062.5] +synonym: "California virus encephalitis" EXACT [] +synonym: "Neuroinvasive California encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417075004] +xref: ICD10CM:A83.5 +xref: ICD9CM:062.5 +xref: MSH:D004670 +xref: SNOMEDCT_US_2015_03_01:186588007 +xref: SNOMEDCT_US_2015_03_01:266103004 +xref: SNOMEDCT_US_2015_03_01:416442006 +xref: SNOMEDCT_US_2015_03_01:417075004 +xref: SNOMEDCT_US_2015_03_01:418531007 +xref: SNOMEDCT_US_2015_03_01:69627004 +xref: UMLS_CUI:C0014053 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050119 +name: West Nile virus neurological syndrome +def: "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder." [URL:http\://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php] +subset: zoonotic_infectious_disease +synonym: "West nile neuroinvasive disease" EXACT [] +synonym: "WNND" EXACT [] +synonym: "WNNS" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050120 +name: hemophagocytic lymphohistiocytosis +alt_id: DOID:6453 +def: "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages." [url:http\://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis, url:http\://www.mayoclinicproceedings.com/inside.asp?AID=57&UID=, url:http\://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso] +comment: Xref MGI.\nMSH:C537250 added from NeuroDevNet [WAK]. +subset: DO_MGI_slim +subset: NCIthesaurus +synonym: "haemophagocytic syndrome" EXACT [] +synonym: "Hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MSH:C537250] +synonym: "Hemophagocytic syndrome" EXACT [NCI2004_11_17:C35439] +synonym: "HPS" EXACT [] +xref: ICD10CM:D76.1 +xref: ICD9CM:288.4 +xref: MSH:D051359 +xref: NCI:C34792 +xref: NCI:C35439 +xref: OMIM:267700 +xref: OMIM:603552 +xref: OMIM:603553 +xref: OMIM:608898 +xref: OMIM:613101 +xref: SNOMEDCT_US_2015_03_01:127069007 +xref: SNOMEDCT_US_2015_03_01:190958003 +xref: SNOMEDCT_US_2015_03_01:234437005 +xref: UMLS_CUI:C0024291 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:0050123 +name: tuberculous encephalitis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050125 +name: dengue shock syndrome +def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." [url:http\://en.wikipedia.org/wiki/Dengue_shock_syndrome, url:http\://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645] +subset: zoonotic_infectious_disease +synonym: "DSS" EXACT [] +xref: OMIM:614371 +is_a: DOID:12205 ! dengue disease + +[Term] +id: DOID:0050126 +name: Tahyna virus encephalitis +def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf, url:http\://www.cdc.gov/eid/content/15/2/306.htm, url:http\://www.springerlink.com/content/u67424r731431362/] +subset: zoonotic_infectious_disease +synonym: "Tahyna virus infection" RELATED [] +synonym: "valtice fever" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050127 +name: sinusitis +alt_id: DOID:2052 +alt_id: DOID:9564 +def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null] +subset: NCIthesaurus +xref: ICD10CM:J01 +xref: ICD10CM:J01.9 +xref: ICD10CM:J01.90 +xref: ICD9CM:461 +xref: ICD9CM:461.9 +xref: SNOMEDCT_US_2015_03_01:155498004 +xref: SNOMEDCT_US_2015_03_01:155501004 +xref: SNOMEDCT_US_2015_03_01:15805002 +xref: SNOMEDCT_US_2015_03_01:195649005 +xref: SNOMEDCT_US_2015_03_01:195653007 +xref: SNOMEDCT_US_2015_03_01:266378004 +xref: UMLS_CUI:C0149512 +is_a: DOID:1352 ! paranasal sinus disease + +[Term] +id: DOID:0050129 +name: secretory diarrhea +def: "Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] +is_a: DOID:13250 ! diarrhea + +[Term] +id: DOID:0050130 +name: osmotic diarrhea +def: "Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] +is_a: DOID:13250 ! diarrhea + +[Term] +id: DOID:0050131 +name: motility-related diarrhea +def: "Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] +is_a: DOID:13250 ! diarrhea + +[Term] +id: DOID:0050132 +name: inflammatory diarrhea +def: "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] +is_a: DOID:13250 ! diarrhea + +[Term] +id: DOID:0050133 +name: superficial mycosis +alt_id: DOID:13370 +def: "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://www.mycology.adelaide.edu.au/Mycoses/] +comment: Adding a UMLS CUI for piedra C2980104. +synonym: "piedra" EXACT [] +synonym: "Steroid-modified tinea infection" EXACT [SNOMEDCT_2005_07_31:238435009] +xref: ICD10CM:B36.9 +xref: MSH:D010854 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:187002008 +xref: SNOMEDCT_US_2015_03_01:187476003 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:276206000 +xref: SNOMEDCT_US_2015_03_01:402135006 +xref: SNOMEDCT_US_2015_03_01:47382004 +xref: UMLS_CUI:C0031898 +xref: UMLS_CUI:C2980104 +is_a: DOID:1564 ! fungal infectious disease + +[Term] +id: DOID:0050134 +name: cutaneous mycosis +def: "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://jama.ama-assn.org/cgi/reprint/61/6/407] +is_a: DOID:1564 ! fungal infectious disease + +[Term] +id: DOID:0050135 +name: subcutaneous mycosis +def: "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma." [url:http\://www.itg.be/evde/53_Medical_mycologyp3.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/] +is_a: DOID:1564 ! fungal infectious disease + +[Term] +id: DOID:0050136 +name: systemic mycosis +def: "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs." [url:http\://dermnetnz.org/fungal/systemic-mycoses.html, url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] +is_a: DOID:1564 ! fungal infectious disease + +[Term] +id: DOID:0050138 +name: podoconiosis +is_a: DOID:4976 ! elephantiasis + +[Term] +id: DOID:0050139 +name: Opisthorchis felineus infectious disease +def: "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage." [url:http\://en.wikipedia.org/wiki/Opisthorchis_felineus] +is_obsolete: true + +[Term] +id: DOID:0050140 +name: acute diarrhea +def: "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide." [url:http\://en.wikipedia.org/wiki/Diarrhea] +is_a: DOID:13250 ! diarrhea + +[Term] +id: DOID:0050141 +name: intestinal botulism +def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins." [url:http\://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html, url:http\://www.who.int/mediacentre/factsheets/fs270/en/] +is_a: DOID:11976 ! botulism + +[Term] +id: DOID:0050143 +name: asymptomatic dengue +def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms." [url:http\://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0] +subset: zoonotic_infectious_disease +is_a: DOID:12205 ! dengue disease + +[Term] +id: DOID:0050144 +name: Kartagener syndrome +def: "A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia." [url:http\://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797, url:http\://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19529061, url:http\://www.ncbi.nlm.nih.gov/pubmed/23243352, url:http\://www.ncbi.nlm.nih.gov/pubmed/24019633, url:http\://www.ncbi.nlm.nih.gov/pubmed/25633235] +subset: NCIthesaurus +synonym: "Kartagener's syndrome" EXACT [] +xref: MSH:D007619 +xref: NCI:C84797 +xref: SNOMEDCT_US_2015_03_01:42402006 +xref: SNOMEDCT_US_2015_03_01:86204009 +xref: UMLS_CUI:C0022521 +is_a: DOID:9562 ! primary ciliary dyskinesia + +[Term] +id: DOID:0050145 +name: adenoiditis +alt_id: DOID:13750 +def: "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing." [url:http\://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false, url:http\://en.wikipedia.org/wiki/Adenoiditis] +synonym: "chronic adenoiditis" EXACT [] +xref: ICD10CM:J35.02 +xref: ICD9CM:474.01 +xref: SNOMEDCT_US_2015_03_01:195794009 +xref: SNOMEDCT_US_2015_03_01:232420002 +xref: UMLS_CUI:C0396023 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:0050146 +name: autoimmune glomerulonephritis +is_obsolete: true + +[Term] +id: DOID:0050147 +name: otomycosis +def: "A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans." [url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis] +synonym: "Singapore ear" EXACT [] +is_a: DOID:9463 ! otitis externa + +[Term] +id: DOID:0050148 +name: laryngotracheitis +alt_id: DOID:11795 +alt_id: DOID:9390 +def: "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis] +xref: ICD10CM:J04 +xref: ICD10CM:J04.2 +xref: ICD10CM:J37.1 +xref: ICD9CM:464 +xref: ICD9CM:464.2 +xref: ICD9CM:476.1 +xref: SNOMEDCT_US_2015_03_01:155505008 +xref: SNOMEDCT_US_2015_03_01:155508005 +xref: SNOMEDCT_US_2015_03_01:195679003 +xref: SNOMEDCT_US_2015_03_01:195694004 +xref: SNOMEDCT_US_2015_03_01:195697006 +xref: SNOMEDCT_US_2015_03_01:195703007 +xref: SNOMEDCT_US_2015_03_01:276443001 +xref: SNOMEDCT_US_2015_03_01:64375000 +xref: SNOMEDCT_US_2015_03_01:83271005 +xref: UMLS_CUI:C0155811 +xref: UMLS_CUI:C0155837 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:0050150 +name: Pontiac fever +def: "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days." [url:http\://www.cdc.gov/legionella/patient_facts.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/623097] +subset: gram-negative_bacterial_infectious_disease +is_a: DOID:10458 ! legionellosis + +[Term] +id: DOID:0050151 +name: tracheobronchial tuberculosis +def: "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever." [url:http\://www.ncbi.nlm.nih.gov/pubmed/9122509] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050152 +name: aspiration pneumonia +def: "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough." [url:http\://scalpel.stanford.edu/articles/aspiration--NEJM.pdf] +xref: ICD10CM:J69.0 +xref: MSH:D011015 +xref: SNOMEDCT_US_2015_03_01:422588002 +xref: SNOMEDCT_US_2015_03_01:47839005 +xref: UMLS_CUI:C0032290 +is_a: DOID:874 ! bacterial pneumonia + +[Term] +id: DOID:0050153 +name: pulmonary aspergilloma +def: "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm] +is_a: DOID:13564 ! aspergillosis + +[Term] +id: DOID:0050154 +name: mycoplasmal pneumonia +def: "A bacterial pneumonia caused by the genus Mycoplasma." [url:http\://en.wikipedia.org/wiki/Mycoplasma] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050155 +name: sensory system disease +def: "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)." [url:http\://en.wikipedia.org/wiki/Sensory_system] +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:0050156 +name: idiopathic pulmonary fibrosis +def: "An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] +comment: OMIM mapping confirmed by DO. [SN]. +subset: NCIthesaurus +synonym: "cryptogenic fibrosing alveolitis" EXACT [] +synonym: "FIBROCYSTIC PULMONARY DYSPLASIA" EXACT [] +synonym: "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL" EXACT [] +xref: EFO:0000768 +xref: ICD10CM:J84.112 +xref: ICD9CM:516.31 +xref: MSH:D054990 +xref: NCI:C35715 +xref: NCI:C35716 +xref: OMIM:178500 +xref: SNOMEDCT_US_2015_03_01:196125002 +xref: SNOMEDCT_US_2015_03_01:233721005 +xref: SNOMEDCT_US_2015_03_01:237121003 +xref: SNOMEDCT_US_2015_03_01:28168000 +xref: SNOMEDCT_US_2015_03_01:426437004 +xref: UMLS_CUI:C1800706 +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:0050157 +name: cryptogenic organizing pneumonia +alt_id: DOID:2798 +def: "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope." [url:http\://chestjournal.chestpubs.org/content/102/1_Supplement/2S.long, url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] +subset: NCIthesaurus +synonym: "BOOP" EXACT [] +synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [] +synonym: "Bronchiolitis obliterans organizing pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:129458007] +synonym: "Cryptogenic organizing pneumonitis" EXACT [] +synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [] +xref: ICD10CM:J84.116 +xref: ICD9CM:516.36 +xref: MSH:D018549 +xref: NCI:C62586 +xref: SNOMEDCT_US_2015_03_01:129458007 +xref: UMLS_CUI:C0242770 +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:0050158 +name: desquamative interstitial pneumonia +alt_id: DOID:2796 +def: "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation." [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288, url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668, url:http\://www.ncbi.nlm.nih.gov/pubmed/16142185, url:http\://www.ncbi.nlm.nih.gov/pubmed/16456642, url:http\://www.ncbi.nlm.nih.gov/pubmed/23001799] +comment: OMIM mapping confirmed by DO. [SN]. +subset: NCIthesaurus +synonym: "desquamative interstitial pneumonia" EXACT [] +synonym: "familial desquamative interstitial pneumonitis" EXACT [] +synonym: "RBILD" EXACT [] +synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [] +xref: ICD10CM:J84.115 +xref: ICD10CM:J84.117 +xref: ICD9CM:516.34 +xref: ICD9CM:516.37 +xref: MSH:C562470 +xref: NCI:C35288 +xref: OMIM:263000 +xref: SNOMEDCT_US_2015_03_01:8549006 +xref: UMLS_CUI:C0238378 +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:0050159 +name: lymphoid interstitial pneumonia +def: "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:0050160 +name: inhalation anthrax +def: "An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches." [url:http\://chestjournal.chestpubs.org/content/116/5/1369.full, url:http\://www.bt.cdc.gov/agent/anthrax/needtoknow.asp, url:http\://www.ncbi.nlm.nih.gov/pubmed/11988441, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000641.htm] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "pulmonary anthrax" EXACT [] +synonym: "respiratory anthrax" EXACT [MTHICD9_2006:022.1] +synonym: "wool-sorters' disease" EXACT [] +synonym: "woolsorters' disease" EXACT [] +is_a: DOID:7427 ! anthrax disease + +[Term] +id: DOID:0050161 +name: lower respiratory tract disease +def: "A respiratory system disease which involves the lower respiratory tract." [url:http\://en.wikipedia.org/wiki/lower_respiratory_tract] +xref: ICD9CM:478.1 +xref: ICD9CM:478.19 +xref: SNOMEDCT_US_2015_03_01:195823002 +xref: SNOMEDCT_US_2015_03_01:266346007 +xref: UMLS_CUI:C0029581 +is_a: DOID:1579 ! respiratory system disease + +[Term] +id: DOID:0050162 +name: influenza encephalopathy +is_obsolete: true + +[Term] +id: DOID:0050163 +name: influenza myocarditis +is_obsolete: true + +[Term] +id: DOID:0050164 +name: influenza myositis +is_obsolete: true + +[Term] +id: DOID:0050165 +name: tuberculous mesenteric gland +def: "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain." [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050166 +name: tuberculous salpingitis +def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube." [url:http\://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A18.17 +xref: ICD9CM:016.6 +xref: SNOMEDCT_US_2015_03_01:186242002 +xref: SNOMEDCT_US_2015_03_01:186243007 +xref: UMLS_CUI:C0152828 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:0050167 +name: autoimmune polyendocrine syndrome type 1 +def: "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." [sn:IEDB] +synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [] +synonym: "Autoimmune Polyglandular Syndrome I" EXACT [] +synonym: "Whitaker syndrom" EXACT [] +is_a: DOID:14040 ! autoimmune polyendocrine syndrome + +[Term] +id: DOID:0050168 +name: autoimmune polyendocrine syndrome type 2 +def: "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2] +synonym: "Schmidt syndrome" EXACT [] +is_a: DOID:14040 ! autoimmune polyendocrine syndrome + +[Term] +id: DOID:0050169 +name: cutaneous lupus erythematosus +def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight." [sn:IEDB] +is_a: DOID:8857 ! lupus erythematosus + +[Term] +id: DOID:0050170 +name: Jamestown Canyon encephalitis +def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/10451169] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050171 +name: snowshoe hare encephalitis +def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050172 +name: trivittatus encephalitis +def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma." [url:http\://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false, url:http\://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS\,ARBOVIRAL_CD.pdf, url:http\://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/10025535] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050173 +name: inkoo encephalitis +def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures." [url:http\://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf, url:http\://en.wikipedia.org/wiki/California_encephalitis_virus, url:http\://www.ncbi.nlm.nih.gov/pubmed/10025535, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8760424] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050174 +name: Kunjin encephalitis +def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy." [url:http\://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2552010] +is_a: DOID:2365 ! West Nile encephalitis + +[Term] +id: DOID:0050175 +name: tick-borne encephalitis +alt_id: DOID:0050176 +alt_id: DOID:10251 +alt_id: DOID:10252 +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm] +subset: tick-borne_infectious_disease +synonym: "Central European encephalitis" EXACT [] +synonym: "Far Eastern TBE" EXACT [] +synonym: "Russian spring-summer encephalitis" EXACT [] +synonym: "Siberian tick-borne encephalitis" EXACT [] +synonym: "Taiga encephalitis" EXACT [MTHICD9_2006:063.0] +synonym: "west-Siberian encephalitis" EXACT [] +synonym: "Western European tick-borne encephalitis" EXACT [SNOMEDCT_2005_07_31:16901001] +xref: ICD10CM:A84.1 +xref: ICD9CM:063.2 +xref: MSH:D004675 +xref: SNOMEDCT_US_2015_03_01:16901001 +xref: UMLS_CUI:C0014054 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050177 +name: monogenic disease +def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls] +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:0050178 +name: complex genetic disease +def: "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)." [DO:wk] +is_obsolete: true + +[Term] +id: DOID:0050179 +name: Powassan encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma." [url:http\://chppm-www.apgea.army.mil/ento/facts/Powassan-JusttheFactsJanuary2004.pdf] +subset: tick-borne_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050180 +name: Colorado tick fever encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss." [url:http\://www.ncbi.nlm.nih.gov/pubmed/13894744, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2838146] +subset: tick-borne_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050181 +name: Herpes simplex virus encephalitis +def: "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations." [url:http\://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm] +is_obsolete: true + +[Term] +id: DOID:0050182 +name: Varicella-zoster virus encephalitis +alt_id: DOID:8698 +def: "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias." [url:http\://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/6273449] +synonym: "Herpes zoster encephalitis" EXACT [SNOMEDCT_2005_07_31:186521003, SNOMEDCT_2005_07_31:192692005] +synonym: "Postchickenpox encephalitis" EXACT [MTHICD9_2006:052.0] +synonym: "postvaricella encephalitis" EXACT [] +synonym: "Varicella Zoster Encephalitis" EXACT [MTH:NOCODE] +is_obsolete: true + +[Term] +id: DOID:0050183 +name: Epstein-Barr virus encephalitis +def: "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia." [url:http\://www.aafp.org/afp/20000201/letters.html, url:http\://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm] +is_obsolete: true + +[Term] +id: DOID:0050184 +name: Measles virus encephalitis +alt_id: DOID:9127 +def: "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia." [url:http\://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html, url:http\://www.springerlink.com/content/2020124072032058/] +synonym: "Post measles encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111872008] +synonym: "Post-measles encephalitis" EXACT [SNOMEDCT_2005_07_31:154339003, SNOMEDCT_2005_07_31:186557008, SNOMEDCT_2005_07_31:230178009] +synonym: "postmeasles encephalitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050185 +name: erythema multiforme +def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000851.htm] +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050186 +name: Cytomegalovirus encephalitis +def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies." [url:http\://www.ncbi.nlm.nih.gov/pubmed/8815757] +is_obsolete: true + +[Term] +id: DOID:0050187 +name: Rubella virus encephalitis +alt_id: DOID:9231 +def: "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13489263] +is_obsolete: true + +[Term] +id: DOID:0050188 +name: coxsackievirus encephalitis +def: "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma." [url:http\://books.google.com/books?id=SRpQyCQuxtUC&pg=PA148&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/14464001] +is_obsolete: true + +[Term] +id: DOID:0050189 +name: polioencephalitis +def: "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/pubmed/13436875] +is_obsolete: true + +[Term] +id: DOID:0050190 +name: adenovirus encephalitis +def: "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures." [url:http\://books.google.com/books?id=SRpQyCQuxtUC&pg=PA70&lpg#v=onepage&q=&f=false, url:http\://cid.oxfordjournals.org/content/31/3/830.full, url:http\://www.medscape.com/viewarticle/414625, url:http\://www.ncbi.nlm.nih.gov/pubmed/15560392] +is_obsolete: true + +[Term] +id: DOID:0050191 +name: influenza virus encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2053792] +is_obsolete: true + +[Term] +id: DOID:0050192 +name: Nipah virus encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19141846, url:http\://www.searo.who.int/LinkFiles/CDS_Nipah_Virus.pdf, url:http\://www.who.int/mediacentre/factsheets/fs262/en/] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050193 +name: Lymphocytic choriomeningitis virus encephalitis +def: "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050194 +name: Argentine hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations." [url:http\://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever, url:http\://www.jstor.org/stable/30129873?seq=1] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050195 +name: Bolivian hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts." [url:http\://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050196 +name: Venezuelan hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia." [url:http\://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050197 +name: Brazilian hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears." [url:http\://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever, url:http\://www.ncbi.nlm.nih.gov/pubmed/7905555, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050198 +name: Chapare hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050199 +name: Whitewater Arroyo hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations." [url:http\://jama.ama-assn.org/cgi/content/full/284/10/1237, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1799746] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050200 +name: Korean hemorrhagic fever +def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/1349231] +subset: zoonotic_infectious_disease +is_a: DOID:11266 ! hemorrhagic fever with renal syndrome + +[Term] +id: DOID:0050201 +name: nephropathia epidemica +def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1349231, url:http\://www.ncbi.nlm.nih.gov/pubmed/2574903, url:http\://www.ncbi.nlm.nih.gov/pubmed/2902106] +subset: zoonotic_infectious_disease +is_a: DOID:11266 ! hemorrhagic fever with renal syndrome + +[Term] +id: DOID:0050202 +name: lujo hemorrhagic fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/19478873] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050203 +name: Cytomegalovirus hepatitis +def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus, url:http\://www.ncbi.nlm.nih.gov/pubmed/4300216, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/11380800] +is_obsolete: true + +[Term] +id: DOID:0050204 +name: Epstein-Barr virus hepatitis +def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16711324, url:http\://www.ncbi.nlm.nih.gov/pubmed/17602362] +is_a: DOID:1884 ! viral hepatitis + +[Term] +id: DOID:0050205 +name: Herpes simplex virus hepatitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions." [url:http\://jcp.bmj.com/content/46/10/968.full.pdf, url:http\://www.jstor.org/stable/20396832, url:http\://www.ncbi.nlm.nih.gov/pubmed/16597901, url:http\://www.ncbi.nlm.nih.gov/pubmed/7006542] +is_obsolete: true + +[Term] +id: DOID:0050206 +name: adenovirus hepatitis +def: "An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA273&lpg#v=onepage&q=&f=false, url:http\://onlinelibrary.wiley.com/doi/10.1111/j.1399-3046.2010.01443.x/abstract] +is_obsolete: true + +[Term] +id: DOID:0050207 +name: Rubella virus hepatitis +def: "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/7550869] +is_obsolete: true + +[Term] +id: DOID:0050208 +name: yellow fever hepatitis +def: "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050209 +name: Measles virus hepatitis +def: "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/17068034, url:http\://www.ncbi.nlm.nih.gov/pubmed/3417236] +is_obsolete: true + +[Term] +id: DOID:0050210 +name: Varicella-zoster virus hepatitis +def: "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16944014, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8092915] +is_obsolete: true + +[Term] +id: DOID:0050211 +name: swine influenza +def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." [url:http\://www.cdc.gov/flu/swineflu/key_facts.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/9140195] +subset: zoonotic_infectious_disease +is_a: DOID:8469 ! influenza + +[Term] +id: DOID:0050212 +name: Campylobacter jejuni gastroenteritis +def: "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17846438] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Campylobacter Gastroenteritis" EXACT [NCI2004_11_17:C35162] +is_obsolete: true + +[Term] +id: DOID:0050213 +name: Vibrio gastroenteritis +def: "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea." [url:http\://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm, url:http\://www.jstor.org/stable/pdfplus/30113106.pdf, url:http\://www.merck.com/mmpe/sec02/ch016/ch016a.html] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050214 +name: Lambert-Eaton myasthenic syndrome +def: "A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal." [url:http\://emedicine.medscape.com/article/1170810-overview, url:http\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome] +synonym: "Eaton-Lambert syndrome" EXACT [MSH:D015624] +synonym: "Lambert-Eaton syndrome" EXACT [MSH:D015624] +synonym: "LEMS" EXACT [] +xref: ICD10CM:G70.80 +xref: ICD9CM:358.3 +xref: MSH:D015624 +xref: NCI:C3155 +xref: SNOMEDCT_US_2015_03_01:230688006 +xref: SNOMEDCT_US_2015_03_01:56989000 +xref: UMLS_CUI:C0022972 +is_a: DOID:439 ! neuromuscular junction disease + +[Term] +id: DOID:0050215 +name: Staphylococcus gastroenteritis +def: "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122c.html, url:http\://www.springerlink.com/content/pg45520138llh128/] +subset: gram-positive_bacterial_infectious_disease +synonym: "Staphylococcus Aureus Gastroenteritis" EXACT [NCI2004_11_17:C35036] +is_obsolete: true + +[Term] +id: DOID:0050216 +name: Bacillus cereus gastroenteritis +def: "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea." [url:http\://www.jstor.org/stable/pdfplus/30112755.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/8501338] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050217 +name: Sapovirus gastroenteritis +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm, url:http\://www0.nih.go.jp/JJID/61/438.pdf] +is_obsolete: true + +[Term] +id: DOID:0050218 +name: polycystic echinococcosis +def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] +synonym: "human polycystic hydatid disease" EXACT [] +synonym: "neotropical echinococcosis" EXACT [] +is_a: DOID:1496 ! echinococcosis + +[Term] +id: DOID:0050219 +name: Hepeviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses." [url:http\://en.wikipedia.org/wiki/Hepeviridae, url:http\://www.expasy.org/viralzone/all_by_species/41.html] +is_obsolete: true + +[Term] +id: DOID:0050220 +name: Coxiella burnetii pneumonia +def: "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission." [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.ncbi.nlm.nih.gov/pubmed/15021054] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Q fever pneumonia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050221 +name: Coxiella burnetii hepatitis +def: "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice." [url:http\://www.merck.com/mmpe/sec14/ch177/ch177i.html] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Q fever hepatitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050222 +name: selective IgM deficiency disease +def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies." [url:http\://en.wikipedia.org/wiki/IgM, url:http\://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency] +is_a: DOID:11702 ! dysgammaglobulinemia + +[Term] +id: DOID:0050223 +name: candidal gastritis +def: "A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting." [url:http\://books.google.com/books?id=I-qKxu5oE2EC&pg=PA166&lpg=PA166&dq#v=onepage&q=&f=false, url:http\://emedicine.medscape.com/article/213853-overview, url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] +is_obsolete: true + +[Term] +id: DOID:0050224 +name: Helicobacter heilmannii infectious disease +def: "A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/10349993] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050225 +name: Histoplasma capsulatum gastritis +def: "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16377536] +is_obsolete: true + +[Term] +id: DOID:0050226 +name: Morganella morganii intestinal infectious disease +def: "An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17180585] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050227 +name: Vibrio cholerae O139 cholera +def: "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050228 +name: amebic dysentery +def: "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever." [url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html] +synonym: "amebic dysentery" EXACT [] +synonym: "amoebic dysentery" EXACT [] +synonym: "Entamoeba histolytica dysentery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050229 +name: Escherichia coli dysentery +def: "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration." [url:http\://emedicine.medscape.com/article/217485-overview, url:http\://www.jstor.org/stable/pdfplus/30112505.pdf] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050230 +name: intestinal capillariasis +def: "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea." [url:http\://en.wikipedia.org/wiki/Intestinal_capillariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050231 +name: hepatic capillariasis +def: "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly." [url:http\://en.wikipedia.org/wiki/Capillaria_hepatica, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050232 +name: pulmonary capillariasis +def: "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050233 +name: Balamuthia mandrillaris infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm] +is_obsolete: true + +[Term] +id: DOID:0050234 +name: Acanthamoeba infectious disease +alt_id: DOID:11334 +def: "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system." [url:http\://en.wikipedia.org/wiki/Acanthamoeba] +synonym: "free-living ameba infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050235 +name: Alveolata infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes." [url:http\://en.wikipedia.org/wiki/Alveolata] +is_obsolete: true + +[Term] +id: DOID:0050236 +name: Heterolobosea infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage." [url:http\://tolweb.org/Heterolobosea/96360] +is_obsolete: true + +[Term] +id: DOID:0050237 +name: Euglenozoa infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates." [url:http\://en.wikipedia.org/wiki/Euglenozoa] +is_obsolete: true + +[Term] +id: DOID:0050238 +name: Parabasalia infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans." [url:http\://en.wikipedia.org/wiki/Parabasalid] +is_obsolete: true + +[Term] +id: DOID:0050239 +name: Fornicata infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell." [url:http\://tolweb.org/Fornicata/121182] +is_obsolete: true + +[Term] +id: DOID:0050240 +name: Trichomonadida infectious disease +def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole." [url:http\://en.wikipedia.org/wiki/Trichomonad] +is_obsolete: true + +[Term] +id: DOID:0050241 +name: Tritrichomonadida infectious disease +def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20093080] +is_obsolete: true + +[Term] +id: DOID:0050242 +name: primary amebic meningoencephalitis +def: "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma." [url:http\://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis, url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm] +synonym: "Naegleria fowleri infection" EXACT [] +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:0050243 +name: Apicomplexa infectious disease +def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans." [url:http\://en.wikipedia.org/wiki/Apicomplexa] +is_obsolete: true + +[Term] +id: DOID:0050244 +name: Coccidia infectious disease +def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans." [url:http\://en.wikipedia.org/wiki/Coccidia] +is_obsolete: true + +[Term] +id: DOID:0050245 +name: Aconoidasida infectious disease +def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida." [url:http\://en.wikipedia.org/wiki/Aconoidasida] +is_obsolete: true + +[Term] +id: DOID:0050246 +name: granulomatous amebic encephalitis +def: "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death." [url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm] +synonym: "Acanthamoeba encephalitis" EXACT [] +synonym: "Acanthamoeba granulomatous encephalitis" EXACT [] +synonym: "Granulomatous Amebic Encephalitis due to Acanthamoeba" EXACT [] +synonym: "granulomatous amoebic encephalitis" EXACT [] +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:0050247 +name: parasitic stramenopiles infectious disease +def: "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms." [url:http\://en.wikipedia.org/wiki/Stramenopiles] +is_obsolete: true + +[Term] +id: DOID:0050249 +name: Brugia timori filariasis +def: "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema." [url:http\://en.wikipedia.org/wiki/Brugia_timori] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050250 +name: philophthalmiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050251 +name: coenurosis +def: "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Coenurosis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050252 +name: Dipylidium caninum infectious disease +def: "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness." [url:http\://en.wikipedia.org/wiki/Dipylidium_caninum, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm] +is_obsolete: true + +[Term] +id: DOID:0050253 +name: mesocestoidiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050254 +name: acanthocephaliasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050255 +name: Uncinaria stenocephala infectious disease +def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections." [url:http\://en.wikipedia.org/wiki/Uncinaria_stenocephala] +is_obsolete: true + +[Term] +id: DOID:0050256 +name: angiostrongyliasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050257 +name: Angiostrongylus cantonensis infectious disease +def: "An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm] +is_obsolete: true + +[Term] +id: DOID:0050258 +name: Angiostrongylus costaricensis infectious disease +def: "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5527668] +is_obsolete: true + +[Term] +id: DOID:0050259 +name: baylisascariasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Baylisascariasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050260 +name: dioctophymiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050261 +name: thelaziasis +def: "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm] +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050262 +name: Acoelomata infectious disease +def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity." [url:http\://en.wikipedia.org/wiki/Flatworm] +is_obsolete: true + +[Term] +id: DOID:0050263 +name: Pseudocoelomata infectious disease +def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals." [url:http\://en.wikipedia.org/wiki/Body_cavity] +is_obsolete: true + +[Term] +id: DOID:0050264 +name: Acanthocephala infectious disease +def: "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host." [url:http\://en.wikipedia.org/wiki/Acanthocephala] +is_obsolete: true + +[Term] +id: DOID:0050265 +name: tick paralysis +is_obsolete: true + +[Term] +id: DOID:0050266 +name: tungiasis +def: "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo." [url:http\://en.wikipedia.org/wiki/Tungiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm] +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:0050267 +name: Ancylostoma caninum ancylostomiasis +def: "An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm] +is_obsolete: true + +[Term] +id: DOID:0050268 +name: ophthalmomyiasis +def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] +is_a: DOID:11080 ! myiasis + +[Term] +id: DOID:0050269 +name: Trichomonas vaginalis trichomoniasis +def: "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge." [url:http\://en.wikipedia.org/wiki/Trichomoniasis] +synonym: "urogenital trichomonas" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050270 +name: Trichomonas tenax trichomoniasis +def: "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20427914] +is_obsolete: true + +[Term] +id: DOID:0050271 +name: cutaneous ascomycota mycosis +def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota] +is_obsolete: true + +[Term] +id: DOID:0050272 +name: cutaneous basidiomycota mycosis +def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota] +is_obsolete: true + +[Term] +id: DOID:0050273 +name: Neoscytalidium dimidiatum infectious disease +def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17641983] +is_obsolete: true + +[Term] +id: DOID:0050274 +name: Scopulariopsis infectious disease +def: "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals." [url:http\://www.doctorfungus.org/thefungi/scopulariopsis.htm] +is_obsolete: true + +[Term] +id: DOID:0050275 +name: onychomycosis +def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed." [url:http\://en.wikipedia.org/wiki/Onychomycosis, url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis] +is_obsolete: true + +[Term] +id: DOID:0050276 +name: subcutaneous ascomycota mycosis +def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://en.wikipedia.org/wiki/Mycosis] +is_obsolete: true + +[Term] +id: DOID:0050277 +name: subcutaneous fungi incertae sedis mycosis +def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock] +is_obsolete: true + +[Term] +id: DOID:0050278 +name: basidiobolomycosis +def: "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/] +is_a: DOID:0050135 ! subcutaneous mycosis + +[Term] +id: DOID:0050279 +name: conidiobolomycosis +def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/] +is_a: DOID:0050135 ! subcutaneous mycosis + +[Term] +id: DOID:0050280 +name: superficial ascomycota mycosis +def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota] +is_obsolete: true + +[Term] +id: DOID:0050281 +name: superficial basidiomycota mycosis +def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota] +is_obsolete: true + +[Term] +id: DOID:0050282 +name: primary systemic ascomycota mycosis +def: "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] +is_obsolete: true + +[Term] +id: DOID:0050283 +name: Stachybotrys infectious disease +def: "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants." [url:http\://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf, url:http\://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf] +is_obsolete: true + +[Term] +id: DOID:0050284 +name: opportunistic ascomycota mycosis +def: "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] +is_obsolete: true + +[Term] +id: DOID:0050285 +name: opportunistic basidiomycota mycosis +def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] +is_obsolete: true + +[Term] +id: DOID:0050286 +name: opportunistic fungi incertae sedis mycosis +def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock] +is_obsolete: true + +[Term] +id: DOID:0050287 +name: opportunistic microsporidia mycosis +def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members." [url:http\://en.wikipedia.org/wiki/Microsporidia, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] +is_obsolete: true + +[Term] +id: DOID:0050288 +name: penicilliosis +def: "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16418525] +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:0050289 +name: fusariosis +def: "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://www.ncbi.nlm.nih.gov/pubmed/14748803] +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:0050290 +name: trichosporonosis +def: "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body." [url:http\://emedicine.medscape.com/article/230705-overview] +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:0050291 +name: parasitic Ichthyosporea infectious disease +def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals." [url:http\://en.wikipedia.org/wiki/Mesomycetozoea] +is_a: DOID:1398 ! parasitic infectious disease + +[Term] +id: DOID:0050292 +name: primary systemic mycosis +def: "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract." [url:http\://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/] +is_a: DOID:0050136 ! systemic mycosis + +[Term] +id: DOID:0050293 +name: Scopulariopsis brevicaulis infectious disease +def: "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm] +is_obsolete: true + +[Term] +id: DOID:0050294 +name: Scytalidium hyalinum infectious disease +def: "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface." [url:http\://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/444431] +is_obsolete: true + +[Term] +id: DOID:0050295 +name: cutaneous sporotrichosis +def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/, url:http\://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm] +synonym: "plaque sporotrichosis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050296 +name: Asfarviridae infectious disease +def: "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite." [url:http\://en.wikipedia.org/wiki/Asfarviridae] +is_obsolete: true + +[Term] +id: DOID:0050297 +name: primary Francisellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050298 +name: adenovirus infectious disease +alt_id: DOID:3123 +alt_id: DOID:3124 +def: "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses." [url:http\://en.wikipedia.org/wiki/Adenoviridae] +synonym: "Adenoviridae infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050299 +name: Simplexvirus infectious disease +def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus." [url:http\://en.wikipedia.org/wiki/Simplexvirus] +is_obsolete: true + +[Term] +id: DOID:0050300 +name: Deltavirus infectious disease +def: "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus." [url:http\://en.wikipedia.org/wiki/Deltavirus] +is_obsolete: true + +[Term] +id: DOID:0050301 +name: Polyomaviridae infectious disease +def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae] +is_obsolete: true + +[Term] +id: DOID:0050302 +name: Varicellovirus infectious disease +def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus." [url:http\://en.wikipedia.org/wiki/Varicellovirus, url:http\://www.expasy.org/viralzone/all_by_species/179.html] +is_obsolete: true + +[Term] +id: DOID:0050303 +name: Hepacivirus infectious disease +def: "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion." [url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.expasy.org/viralzone/all_by_species/37.html] +is_obsolete: true + +[Term] +id: DOID:0050304 +name: aniseikonia +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:0050305 +name: Arteriviridae infectious disease +def: "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses." [url:http\://www.expasy.org/viralzone/all_by_species/28.html] +is_obsolete: true + +[Term] +id: DOID:0050306 +name: familial abdominal aortic aneurysm +comment: OMIM mapping confirmed by DO. [SN]. +is_obsolete: true + +[Term] +id: DOID:0050307 +name: Bornaviridae infectious disease +def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses." [url:http\://en.wikipedia.org/wiki/Bornaviridae] +is_obsolete: true + +[Term] +id: DOID:0050308 +name: Alkhurma hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever." [url:http\://en.wikipedia.org/wiki/Alkhurma_virus, url:www.episouth.org/download.php?&id=7266] +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:11320 ! Kyasanur forest disease + +[Term] +id: DOID:0050309 +name: Measles virus infectious disease +def: "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person." [url:http\://en.wikipedia.org/wiki/Measles] +is_obsolete: true + +[Term] +id: DOID:0050310 +name: primary Listeriaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050311 +name: primary Helicobacteraceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050312 +name: primary Campylobacteraceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050313 +name: primary Brucellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050314 +name: primary Erysipelotrichaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050315 +name: commensal Clostridiaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050316 +name: commensal Staphylococcaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050317 +name: commensal Streptococcaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050318 +name: primary Burkholderiaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050319 +name: primary Legionellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050320 +name: commensal Alcaligenaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050321 +name: opportunistic Pseudomonadaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050322 +name: primary Vibrionaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050323 +name: primary Coxiellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050324 +name: physical disorder OBSOLETED TERM +def: "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)." [url:http\://en.wikipedia.org/wiki/Physical_disorder] +is_obsolete: true + +[Term] +id: DOID:0050325 +name: genetic disorder +def: "A medical disorder that is an illness caused by abnormalities in genes or chromosomes." [url:http\://en.wikipedia.org/wiki/Genetic_disorder, url:http\://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml] +is_obsolete: true + +[Term] +id: DOID:0050327 +name: peripheral dysostosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050328 +name: congenital hypothyroidism +alt_id: DOID:11631 +alt_id: DOID:11632 +def: "A hypothyroidism that is present at birth." [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "cretinism" EXACT [CSP2005:2928-6883] +xref: ICD10CM:E00.1 +xref: ICD10CM:E03.1 +xref: ICD9CM:243 +xref: MSH:D003409 +xref: NCI:C26734 +xref: NCI:C98921 +xref: OMIM:218700 +xref: OMIM:225250 +xref: OMIM:274400 +xref: OMIM:274500 +xref: OMIM:274900 +xref: OMIM:275100 +xref: OMIM:275200 +xref: OMIM:607200 +xref: OMIM:609893 +xref: OMIM:614450 +xref: SNOMEDCT_US_2015_03_01:154660000 +xref: SNOMEDCT_US_2015_03_01:154661001 +xref: SNOMEDCT_US_2015_03_01:190268003 +xref: SNOMEDCT_US_2015_03_01:190273009 +xref: SNOMEDCT_US_2015_03_01:217710005 +xref: SNOMEDCT_US_2015_03_01:267376007 +xref: SNOMEDCT_US_2015_03_01:267465007 +xref: SNOMEDCT_US_2015_03_01:3614006 +xref: SNOMEDCT_US_2015_03_01:75065003 +xref: UMLS_CUI:C0010308 +xref: UMLS_CUI:C0342200 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:0050329 +name: mental disorder +def: "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture." [url:http\://en.wikipedia.org/wiki/Classification_of_mental_disorders, url:http\://en.wikipedia.org/wiki/Mental_disorder] +is_obsolete: true + +[Term] +id: DOID:0050331 +name: LADD syndrome +def: "An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "lacrimoauriculodentodigital syndrome" EXACT [] +synonym: "LEVY-HOLLISTER SYNDROME" EXACT [] +xref: OMIM:149730 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050332 +name: enlarged vestibular aqueduct +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:600791 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:0050333 +name: congenital anosmia +is_obsolete: true + +[Term] +id: DOID:0050334 +name: thiourea tasting +synonym: "PHENYLTHIOCARBAMIDE TASTING, INCLUDED" EXACT [] +synonym: "PROPYLTHIOURACIL TASTING, INCLUDED" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050335 +name: bradyopsia +def: "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes." [PMID:17826834, url:http\://ghr.nlm.nih.gov/condition/bradyopsia] +synonym: "prolonged electroretinal response suppression" EXACT [] +xref: MSH:C564243 +xref: OMIM:608415 +xref: ORDO:75374 +xref: UMLS_CUI:C1842073 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:0050336 +name: hypophosphatemia +is_a: DOID:2485 ! phosphorus metabolism disease + +[Term] +id: DOID:0050337 +name: Burkholderia cepacia infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050338 +name: primary bacterial infectious disease +def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." [url:http\://en.wikipedia.org/wiki/Infectious_disease] +is_a: DOID:104 ! bacterial infectious disease + +[Term] +id: DOID:0050339 +name: commensal bacterial infectious disease +def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [url:http\://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false] +is_a: DOID:104 ! bacterial infectious disease + +[Term] +id: DOID:0050340 +name: opportunistic bacterial infectious disease +def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545] +is_a: DOID:104 ! bacterial infectious disease + +[Term] +id: DOID:0050341 +name: opportunistic Actinomycetales infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050342 +name: commensal Actinomycetales infectious disease +def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora." [url:www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050343 +name: Gardnerella vaginalis vaginosis +is_obsolete: true + +[Term] +id: DOID:0050344 +name: commensal Bifidobacteriaceae infectious disease +is_obsolete: true + +[Term] +id: DOID:0050345 +name: primary Thermomonosporaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050346 +name: primary Corynebacteriaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050347 +name: primary Mycobacteriaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050348 +name: primary Streptomycetaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050349 +name: opportunistic Nocardiaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050350 +name: primary Clostridiaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050351 +name: primary Clostridium infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050352 +name: foodborne botulism +def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis." [url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf] +subset: GOLD +subset: gram-positive_bacterial_infectious_disease +is_a: DOID:11976 ! botulism + +[Term] +id: DOID:0050353 +name: wound botulism +def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins." [url:http\://www.who.int/mediacentre/factsheets/fs270/en/] +subset: gram-positive_bacterial_infectious_disease +is_a: DOID:11976 ! botulism + +[Term] +id: DOID:0050354 +name: infant botulism +def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness." [url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf] +subset: gram-positive_bacterial_infectious_disease +is_a: DOID:11976 ! botulism + +[Term] +id: DOID:0050355 +name: opportunistic Burkholderiaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050357 +name: Burkholderia cenocepacia infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050358 +name: commensal Chlamydiaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050359 +name: Bilophila wadsworthia necrotizing fasciitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050360 +name: commensal Enterobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050361 +name: opportunistic Enterobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050362 +name: Elizabethkingia meningoseptica infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050363 +name: Capnocytophaga canimorsus infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050364 +name: opportunistic Flavobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050365 +name: Chryseobacterium indologenes infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050366 +name: Empedobacter brevis endophthalmitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050367 +name: Myroides odoratus necrotizing fasciitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050368 +name: commensal Fusobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050369 +name: primary Mycoplasmataceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050370 +name: commensal Neisseriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050371 +name: commensal Pasteurellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050372 +name: commensal Haemophilus infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050373 +name: Leptospiraceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050374 +name: Spirochaetaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050375 +name: primary Spirillaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050376 +name: anaplasmosis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050377 +name: Burkholderia cepacia complex infectious disease +alt_id: DOID:0050356 +is_obsolete: true + +[Term] +id: DOID:0050378 +name: opportunistic Campylobacteraceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050379 +name: Campylobacter fetus infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050380 +name: Campylobacter coli infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050381 +name: Chlamydia trachomatis epididymitis +is_obsolete: true + +[Term] +id: DOID:0050382 +name: glandular tularemia +def: "A tularemia that results_in swelling of regional lymph glands." [url:http\://www.cdc.gov/tularemia/signssymptoms/] +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:0050383 +name: typhoidal tularemia +def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss." [url:http\://emedicine.medscape.com/article/230923-clinical] +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:0050384 +name: commensal Helicobacteraceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050385 +name: commensal Helicobacter infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050386 +name: Acinetobacter baumannii pneumonia +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050387 +name: nonpapillary renal cell carcinoma +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:144700 +is_a: DOID:4455 ! hereditary renal cell carcinoma + +[Term] +id: DOID:0050388 +name: Bacteroides fragilis peritonitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050389 +name: Capnocytophaga canimorsus meningitis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050390 +name: Capnocytophaga canimorsus endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050391 +name: Elizabethkingia meningoseptica meningitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050392 +name: streptococcal necrotizing fasciitis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050393 +name: Chryseobacterium indologenes pneumonia +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050394 +name: nocardial pneumonia +is_obsolete: true + +[Term] +id: DOID:0050395 +name: nocardial cellulitis +is_obsolete: true + +[Term] +id: DOID:0050396 +name: nocardial keratitis +is_obsolete: true + +[Term] +id: DOID:0050397 +name: cerebral Bilophila wadsworthia infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050398 +name: Carrion's Disease +def: "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed." [url:http\://emedicine.medscape.com/article/213169-clinical#a0217, url:http\://en.wikipedia.org/wiki/Carrion%27s_disease] +synonym: "Carrion Disease" EXACT [] +synonym: "oroya fever" EXACT [] +is_a: DOID:11102 ! bartonellosis + +[Term] +id: DOID:0050399 +name: Bordetella pertussis whooping cough +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050400 +name: Pseudomonas urinary tract infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050401 +name: Pseudomonas endocarditis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050402 +name: Pseudomonas keratitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050403 +name: commensal Mycoplasmatales infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050404 +name: commensal Mycoplasmataceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050405 +name: Mycoplasma genitalium urethritis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050406 +name: Yersinia pseudotuberculosis mesenteric lymphadenitis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050407 +name: commensal Mycoplasma infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050408 +name: Staphylococcus aureus ecthyma +is_obsolete: true + +[Term] +id: DOID:0050409 +name: Streptococcus pyogenes ecthyma +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050410 +name: streptococcal erysipelas +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050411 +name: Staphylococcus aureus erysipelas +is_obsolete: true + +[Term] +id: DOID:0050412 +name: Streptococcus impetigo +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050413 +name: Staphylococcus aureus impetigo +is_obsolete: true + +[Term] +id: DOID:0050414 +name: Streptococcus lymphangitis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050415 +name: Staphylococcus aureus lymphangitis +is_obsolete: true + +[Term] +id: DOID:0050416 +name: Streptococcus agalactiae meningitis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050417 +name: Streptococcus equisimilis meningitis +subset: gram-positive_bacterial_infectious_disease +synonym: "Streptococcus dysgalactiae subsp. equisimilis meningitis " EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050418 +name: Streptococcus zooepidemicus meningitis +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Streptococcus equi subsp. zooepidemicus meningitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050419 +name: complement factor I deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "C3 INACTIVATOR DEFICIENCY" EXACT [] +synonym: "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY" EXACT [] +xref: OMIM:610984 +is_a: DOID:626 ! complement deficiency + +[Term] +id: DOID:0050420 +name: primary Streptococcaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050421 +name: primary streptococcal infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050422 +name: Yersinia pseudotuberculosis gastroenteritis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050423 +name: enteroaggregative Escherichia coli infectious disease +synonym: "enteroaggregative E.coli infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050424 +name: familial adenomatous polyposis +def: "An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer." [DO:ls, url:http\://en.wikipedia.org/wiki/Familial_adenomatous_polyposis, url:http\://www.omim.org/entry/175100?search=adenomatous%20polyposis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "adenomatous polyposis of the colon" EXACT [] +xref: MSH:D011125 +xref: NCI:C3339 +xref: OMIM:175100 +xref: OMIM:608456 +xref: SNOMEDCT_US_2015_03_01:154609001 +xref: SNOMEDCT_US_2015_03_01:188828009 +xref: SNOMEDCT_US_2015_03_01:269636003 +xref: SNOMEDCT_US_2015_03_01:423471004 +xref: SNOMEDCT_US_2015_03_01:70921007 +xref: SNOMEDCT_US_2015_03_01:72900001 +xref: UMLS_CUI:C0032580 +xref: UMLS_CUI:C2713442 +xref: UMLS_CUI:C2713443 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050425 +name: restless legs syndrome +def: "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them." [url:http\://en.wikipedia.org/wiki/Restless_legs_syndrome, url:http\://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "WED" EXACT [] +synonym: "Willis-Ekbom disease" EXACT [] +synonym: "Wittmaack-Ekbom syndrome" EXACT [] +xref: EFO:0004270 +xref: ICD10CM:G25.81 +xref: ICD9CM:333.94 +xref: MSH:D012148 +xref: NCI:C84501 +xref: OMIM:102300 +xref: OMIM:608830 +xref: OMIM:610438 +xref: OMIM:610439 +xref: OMIM:611185 +xref: OMIM:611242 +xref: OMIM:612853 +xref: OMIM:615197 +xref: SNOMEDCT_US_2015_03_01:32914008 +xref: SNOMEDCT_US_2015_03_01:393579008 +xref: UMLS_CUI:C0035258 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:0050426 +name: Stevens-Johnson syndrome +xref: EFO:0004276 +xref: ICD10CM:L51.1 +xref: ICD10CM:L51.2 +xref: ICD9CM:695.13 +xref: ICD9CM:695.15 +xref: MSH:D013262 +xref: NCI:C79484 +xref: NCI:C79777 +xref: SNOMEDCT_US_2015_03_01:156362004 +xref: SNOMEDCT_US_2015_03_01:200919006 +xref: SNOMEDCT_US_2015_03_01:23067006 +xref: SNOMEDCT_US_2015_03_01:238819008 +xref: SNOMEDCT_US_2015_03_01:267848009 +xref: SNOMEDCT_US_2015_03_01:403609001 +xref: SNOMEDCT_US_2015_03_01:73442001 +xref: UMLS_CUI:C0014518 +xref: UMLS_CUI:C0038325 +xref: UMLS_CUI:C1274933 +xref: UMLS_CUI:C3658301 +xref: UMLS_CUI:C3658302 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050427 +name: xeroderma pigmentosum +def: "An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair." [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q82.1 +xref: MSH:D014983 +xref: NCI:C3452 +xref: OMIM:278700 +xref: OMIM:278720 +xref: OMIM:278730 +xref: OMIM:278740 +xref: OMIM:278750 +xref: OMIM:278760 +xref: OMIM:278780 +xref: OMIM:610651 +xref: SNOMEDCT_US_2015_03_01:44600005 +xref: UMLS_CUI:C0043346 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050428 +name: nonepidermolytic palmoplantar keratoderma +def: "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "diffuse nonepidermolytic palmomplantar keratoderma" EXACT [] +synonym: "Thost-Unna Syndrome" EXACT [] +synonym: "tylosis" EXACT [] +synonym: "Unna-Thost Syndrome" EXACT [] +xref: MSH:D015776 +xref: NCI:C3147 +xref: OMIM:600962 +xref: OMIM:613000 +xref: OMIM:615735 +xref: ORDO:2337 +xref: SNOMEDCT_US_2015_03_01:205584004 +xref: SNOMEDCT_US_2015_03_01:28596004 +xref: SNOMEDCT_US_2015_03_01:399955009 +xref: SNOMEDCT_US_2015_03_01:400123002 +xref: SNOMEDCT_US_2015_03_01:81206005 +xref: UMLS_CUI:C0022584 +xref: UMLS_CUI:C3489771 +is_a: DOID:3390 ! palmoplantar keratosis + +[Term] +id: DOID:0050429 +name: Hailey-Hailey disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "BENIGN CHRONIC PEMPHIGUS" EXACT [] +synonym: "Pemphigus, Benign Familial" EXACT [] +xref: ICD10CM:Q82.8 +xref: MSH:D016506 +xref: NCI:C82865 +xref: OMIM:169600 +xref: SNOMEDCT_US_2015_03_01:79468000 +xref: UMLS_CUI:C0085106 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050430 +name: multiple endocrine neoplasia type 2A +def: "An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis." [url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MEN2A" EXACT [] +synonym: "multiple endocrine neoplasia II" EXACT [] +synonym: "Sipple syndrome" EXACT [] +xref: ICD10CM:E31.22 +xref: ICD9CM:258.02 +xref: MSH:D018813 +xref: NCI:C3226 +xref: OMIM:171400 +xref: ORDO:247698 +xref: SNOMEDCT_US_2015_03_01:61808009 +xref: UMLS_CUI:C0025268 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050431 +name: arrhythmogenic right ventricular cardiomyopathy +def: "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle." [url:http\://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, url:http\://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, url:http\://my.clevelandclinic.org/services/heart/disorders/arvd, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "arrhythmogenic right ventricular dysplasia" EXACT [] +synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [] +synonym: "ARVC" EXACT [] +synonym: "ARVC cardiomyopathy" EXACT [] +synonym: "ARVD" EXACT [] +xref: MSH:D019571 +xref: NCI:C84571 +xref: OMIM:107970 +xref: OMIM:600996 +xref: OMIM:602086 +xref: OMIM:602087 +xref: OMIM:604400 +xref: OMIM:604401 +xref: OMIM:607450 +xref: OMIM:609040 +xref: OMIM:610193 +xref: OMIM:610476 +xref: OMIM:611528 +xref: OMIM:615616 +xref: ORDO:247 +xref: SNOMEDCT_US_2015_03_01:253528005 +xref: SNOMEDCT_US_2015_03_01:281170005 +xref: UMLS_CUI:C0349788 +is_a: DOID:0060036 ! intrinsic cardiomyopathy + +[Term] +id: DOID:0050432 +name: Asperger syndrome +def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." [url:http\://en.wikipedia.org/wiki/Asperger_syndrome, url:www.neurodevnet.ca] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:F84.5 +xref: MSH:D020817 +xref: NCI:C97159 +xref: OMIM:300494 +xref: OMIM:300497 +xref: OMIM:608631 +xref: OMIM:608638 +xref: OMIM:608781 +xref: OMIM:609954 +xref: ORDO:1162 +xref: SNOMEDCT_US_2015_03_01:154879004 +xref: SNOMEDCT_US_2015_03_01:192586006 +xref: SNOMEDCT_US_2015_03_01:23560001 +xref: UMLS_CUI:C0236792 +is_a: DOID:0060041 ! autism spectrum disorder + +[Term] +id: DOID:0050433 +name: fatal familial insomnia +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:A81.83 +xref: ICD9CM:046.72 +xref: MSH:D034062 +xref: NCI:C84711 +xref: OMIM:600072 +xref: SNOMEDCT_US_2015_03_01:83157008 +xref: UMLS_CUI:C0206042 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:0050434 +name: Andersen-Tawil syndrome +def: "A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly." [url:http\://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome, url:http\://en.wikipedia.org/wiki/Long_QT_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS" EXACT [] +synonym: "Andersen syndrome " EXACT [] +synonym: "Long QT syndrome 7" EXACT [] +xref: MSH:D050030 +xref: NCI:C84559 +xref: OMIM:170390 +xref: SNOMEDCT_US_2015_03_01:422348008 +xref: UMLS_CUI:C1563715 +is_a: DOID:2843 ! long QT syndrome + +[Term] +id: DOID:0050436 +name: mulibrey nanism +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Muscle-Liver-Brain-Eye Nanism" EXACT [] +synonym: "Perheentupa Syndrome" EXACT [] +synonym: "PERICARDIAL CONSTRICTION AND GROWTH FAILURE" EXACT [] +xref: MSH:D050336 +xref: NCI:C84906 +xref: OMIM:253250 +xref: SNOMEDCT_US_2015_03_01:81604003 +xref: UMLS_CUI:C0524582 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050437 +name: Danon disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ANTOPOL DISEASE" EXACT [] +synonym: "PSEUDOGLYCOGENOSIS II" EXACT [] +xref: MSH:D052120 +xref: NCI:C84735 +xref: OMIM:300257 +xref: SNOMEDCT_US_2015_03_01:419097006 +xref: UMLS_CUI:C0878677 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:0050438 +name: Frasier syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D052159 +xref: OMIM:136680 +xref: SNOMEDCT_US_2015_03_01:445431000 +xref: UMLS_CUI:C0950122 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050439 +name: Usher syndrome +def: "A syndrome characterized by a combination of hearing loss and visual impairment." [url:http\://en.wikipedia.org/wiki/Usher_syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +xref: MSH:D052245 +xref: NCI:C85217 +xref: OMIM:276900 +xref: OMIM:276901 +xref: OMIM:276902 +xref: OMIM:276904 +xref: OMIM:601067 +xref: OMIM:602083 +xref: OMIM:602097 +xref: OMIM:605472 +xref: OMIM:606943 +xref: OMIM:611383 +xref: OMIM:612632 +xref: OMIM:614504 +xref: OMIM:614869 +xref: OMIM:614990 +xref: ORDO:886 +xref: SNOMEDCT_US_2015_03_01:57838006 +xref: SNOMEDCT_US_2015_03_01:73119000 +xref: UMLS_CUI:C0271097 +xref: UMLS_CUI:C1568248 +xref: UMLS_CUI:C1568249 +xref: UMLS_CUI:C2931205 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050440 +name: familial partial lipodystrophy +def: "A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Dunnigan Syndrome" EXACT [] +synonym: "Koberling-Dunnigan Syndrome" EXACT [] +xref: MSH:D052496 +xref: NCI:C84708 +xref: OMIM:151660 +xref: OMIM:604367 +xref: OMIM:608600 +xref: OMIM:613877 +xref: OMIM:615238 +xref: SNOMEDCT_US_2015_03_01:49292002 +xref: UMLS_CUI:C0271694 +xref: UMLS_CUI:C1720859 +xref: UMLS_CUI:C1720860 +xref: UMLS_CUI:C1720861 +is_a: DOID:811 ! lipodystrophy + +[Term] +id: DOID:0050441 +name: mucosulfatidosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "multiple sulfatase deficiency disease" EXACT [] +synonym: "Sulfatidosis, Juvenile, Austin Type" EXACT [] +xref: MSH:D052517 +xref: NCI:C84908 +xref: OMIM:272200 +xref: SNOMEDCT_US_2015_03_01:254076009 +xref: SNOMEDCT_US_2015_03_01:54898003 +xref: UMLS_CUI:C0268263 +xref: UMLS_CUI:C1720864 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:0050444 +name: infantile refsum disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "INFANTILE PHYTANIC ACID STORAGE DISEASE" EXACT [] +xref: ICD10CM:G60.1 +xref: MSH:D052919 +xref: NCI:C84789 +xref: OMIM:266510 +xref: SNOMEDCT_US_2015_03_01:238062008 +xref: UMLS_CUI:C0282527 +is_a: DOID:906 ! peroxisomal disease + +[Term] +id: DOID:0050445 +name: X-linked hypophosphatemic rickets +def: "A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization." [url:http\://emedicine.medscape.com/article/922305-overview, url:http\://en.wikipedia.org/wiki/X-linked_hypophosphatemia, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11911&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&title=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&search=Disease_Search_Simple] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT [] +synonym: "hypophosphatemic rickets X-linked dominant" EXACT [] +synonym: "Rickets, Vitamin D-Resistant" EXACT [] +synonym: "Vitamin D-Resistant Rickets, X-Linked" EXACT [] +synonym: "X-linked hypophosphatemia" EXACT [] +xref: ICD10:E83.3 +xref: MSH:D053098 +xref: NCI:C85234 +xref: OMIM:300554 +xref: OMIM:307800 +xref: SNOMEDCT_US_2015_03_01:82236004 +xref: UMLS_CUI:C0733682 +xref: UMLS_CUI:C1845168 +xref: UMLS_CUI:C3540852 +is_a: DOID:10609 ! rickets + +[Term] +id: DOID:0050448 +name: hereditary mucosal leukokeratosis +def: "A skin disease characterized by a defect in the normal process of keratinization of the mucosa." [url:http\://en.wikipedia.org/wiki/White_sponge_nevus, url:http\://omim.org/entry/193900] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "white sponge nevus" EXACT [] +synonym: "white sponge nevus of Cannon" EXACT [] +xref: MSH:D053529 +xref: NCI:C84760 +xref: OMIM:193900 +xref: OMIM:615785 +xref: ORDO:171723 +xref: SNOMEDCT_US_2015_03_01:389203001 +xref: SNOMEDCT_US_2015_03_01:62953009 +xref: SNOMEDCT_US_2015_03_01:85388002 +xref: UMLS_CUI:C1721005 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050449 +name: pachyonychia congenita +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Jackson-Lawler Type Pachyonychia Congenita" EXACT [] +synonym: "Jadassohn-Lewandowsky Syndrome" EXACT [] +synonym: "Pachyonychia Congenita Type 1" EXACT [] +synonym: "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE" EXACT [] +xref: MSH:D053549 +xref: NCI:C84986 +xref: OMIM:167200 +xref: OMIM:167210 +xref: SNOMEDCT_US_2015_03_01:205600001 +xref: SNOMEDCT_US_2015_03_01:39427000 +xref: UMLS_CUI:C0265334 +xref: UMLS_CUI:C1706595 +xref: UMLS_CUI:C1721007 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050450 +name: Gitelman syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA" EXACT [] +xref: MSH:C531690 +xref: MSH:D053579 +xref: NCI:C84730 +xref: OMIM:263800 +xref: SNOMEDCT_US_2015_03_01:3188003 +xref: SNOMEDCT_US_2015_03_01:707756004 +xref: UMLS_CUI:C0268450 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:0050451 +name: Brugada syndrome +def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death." [url:http\://en.wikipedia.org/wiki/Brugada_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D053840 +xref: NCI:C71059 +xref: OMIM:601144 +xref: OMIM:611777 +xref: OMIM:611875 +xref: OMIM:611876 +xref: OMIM:612838 +xref: OMIM:613119 +xref: OMIM:613120 +xref: OMIM:613123 +xref: SNOMEDCT_US_2015_03_01:418818005 +xref: UMLS_CUI:C1142166 +xref: UMLS_CUI:C1721096 +xref: UMLS_CUI:C1955837 +is_a: DOID:10273 ! heart conduction disease + +[Term] +id: DOID:0050452 +name: mevalonic aciduria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Mevalonate Kinase Deficiency" EXACT [] +xref: MSH:D054078 +xref: NCI:C84890 +xref: OMIM:610377 +xref: SNOMEDCT_US_2015_03_01:124327008 +xref: SNOMEDCT_US_2015_03_01:234538002 +xref: UMLS_CUI:C0342731 +xref: UMLS_CUI:C0398691 +xref: UMLS_CUI:C1959626 +is_a: DOID:906 ! peroxisomal disease + +[Term] +id: DOID:0050453 +name: lissencephaly +def: "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation." [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:Q04.3 +xref: ICD10CM:Q04.8 +xref: MSH:D054082 +xref: NCI:C103921 +xref: OMIM:257320 +xref: OMIM:300067 +xref: OMIM:300215 +xref: OMIM:607432 +xref: OMIM:611603 +xref: OMIM:614019 +xref: OMIM:615191 +xref: ORDO:102009 +xref: SNOMEDCT_US_2015_03_01:204036008 +xref: SNOMEDCT_US_2015_03_01:23024003 +xref: SNOMEDCT_US_2015_03_01:26425000 +xref: UMLS_CUI:C0266463 +xref: UMLS_CUI:C0266483 +is_a: DOID:2490 ! congenital nervous system abnormality + +[Term] +id: DOID:0050454 +name: periventricular nodular heterotopia +def: "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain." [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "periventricular heterotopia" EXACT [] +xref: MSH:C548481 +xref: MSH:D054091 +xref: OMIM:300049 +xref: OMIM:300537 +xref: OMIM:608097 +xref: OMIM:608098 +xref: OMIM:612881 +xref: OMIM:615544 +xref: ORDO:98892 +xref: SNOMEDCT_US_2015_03_01:448227009 +xref: UMLS_CUI:C1848213 +xref: UMLS_CUI:C1868720 +is_a: DOID:2490 ! congenital nervous system abnormality + +[Term] +id: DOID:0050455 +name: arachnodactyly +is_obsolete: true + +[Term] +id: DOID:0050456 +name: Buruli ulcer disease +def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin." [url:http\://en.wikipedia.org/wiki/Buruli_ulcer, url:http\://www.who.int/mediacentre/factsheets/fs199/en/] +synonym: "Bairnsdale ulcer" EXACT [] +synonym: "Daintree ulcer" EXACT [] +synonym: "Mossman ulcer" EXACT [] +synonym: "Searl ulcer" EXACT [] +synonym: "Searle's ulcer" EXACT [] +xref: ICD10CM:A31.1 +xref: MSH:D054312 +xref: NCI:C84604 +xref: SNOMEDCT_US_2015_03_01:15845006 +xref: SNOMEDCT_US_2015_03_01:186343005 +xref: UMLS_CUI:C0085568 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:0050457 +name: Sertoli cell-only syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "DEL CASTILLO SYNDROME" EXACT [] +synonym: "Germinal Cell Aplasia" EXACT [] +xref: MSH:D054331 +xref: OMIM:305700 +xref: OMIM:400042 +xref: SNOMEDCT_US_2015_03_01:73465006 +xref: UMLS_CUI:C1384583 +is_a: DOID:12336 ! male infertility + +[Term] +id: DOID:0050458 +name: juvenile myelomonocytic leukemia +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:C93.3 +xref: ICD10CM:C93.30 +xref: MSH:D054429 +xref: NCI:C9233 +xref: OMIM:607785 +xref: SNOMEDCT_US_2015_03_01:128832006 +xref: SNOMEDCT_US_2015_03_01:277587001 +xref: SNOMEDCT_US_2015_03_01:445227008 +xref: UMLS_CUI:C0349639 +is_a: DOID:4972 ! myelodysplastic myeloproliferative cancer + +[Term] +id: DOID:0050459 +name: hyperphosphatemia +xref: MSH:D054559 +xref: NCI:C113750 +xref: SNOMEDCT_US_2015_03_01:20165001 +xref: UMLS_CUI:C0085681 +is_a: DOID:2485 ! phosphorus metabolism disease + +[Term] +id: DOID:0050460 +name: Wolf-Hirschhorn syndrome +alt_id: DOID:6684 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "4p deletion syndrome" EXACT [] +synonym: "chromosome 4p16.3 deletion syndrome" EXACT [] +synonym: "PITT SYNDROME" EXACT [] +synonym: "Pitt-Rogers-Danks Syndrome" EXACT [] +xref: ICD10CM:Q93.3 +xref: MSH:D054877 +xref: NCI:C35528 +xref: OMIM:194190 +xref: SNOMEDCT_US_2015_03_01:17122004 +xref: UMLS_CUI:C0796117 +xref: UMLS_CUI:C1956097 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:0050461 +name: aspartylglucosaminuria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ASPARTYLGLUCOSAMINIDASE DEFICIENCY" EXACT [] +synonym: "aspartylglycosaminuria" EXACT [] +synonym: "GLYCOSYLASPARAGINASE DEFICIENCY" EXACT [] +xref: ICD10CM:E77.1 +xref: MSH:D054880 +xref: NCI:C61273 +xref: OMIM:208400 +xref: SNOMEDCT_US_2015_03_01:54954004 +xref: UMLS_CUI:C0268225 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:0050462 +name: Antley-Bixler syndrome +def: "An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Antley-Bixler_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "trapezoidocephaly-synostosis syndrome" EXACT [] +xref: MSH:D054882 +xref: OMIM:201750 +xref: OMIM:207410 +xref: SNOMEDCT_US_2015_03_01:62964007 +xref: UMLS_CUI:C1860042 +xref: UMLS_CUI:C2350233 +xref: UMLS_CUI:C2936791 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050463 +name: campomelic dysplasia +def: "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur." [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acampomelic Campomelic Dysplasia" EXACT [] +xref: MSH:D055036 +xref: NCI:C84609 +xref: OMIM:114290 +xref: SNOMEDCT_US_2015_03_01:74928006 +xref: UMLS_CUI:C1861922 +xref: UMLS_CUI:C1861923 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0050464 +name: Farber lipogranulomatosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acid Ceramidase Deficiency" EXACT [] +synonym: "Farber Disease" EXACT [] +synonym: "N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY" EXACT [] +xref: MSH:D055577 +xref: NCI:C84710 +xref: OMIM:228000 +xref: SNOMEDCT_US_2015_03_01:79935000 +xref: UMLS_CUI:C0268255 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:0050465 +name: Muir-Torre syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D055653 +xref: NCI:C84905 +xref: OMIM:158320 +xref: SNOMEDCT_US_2015_03_01:403824007 +xref: UMLS_CUI:C1321489 +is_a: DOID:3883 ! Lynch syndrome + +[Term] +id: DOID:0050466 +name: Loeys-Dietz syndrome +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: MSH:D055947 +xref: NCI:C75006 +xref: OMIM:608967 +xref: OMIM:609192 +xref: OMIM:610168 +xref: OMIM:610380 +xref: OMIM:613795 +xref: OMIM:614816 +xref: ORDO:60030 +xref: SNOMEDCT_US_2015_03_01:446263001 +xref: UMLS_CUI:C1836635 +xref: UMLS_CUI:C2697932 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050467 +name: erythrokeratodermia variabilis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Erythrokeratodermia Figurata Variabilis" EXACT [] +synonym: "Greither Disease" EXACT [] +xref: MSH:C566591 +xref: MSH:D056266 +xref: NCI:C84696 +xref: OMIM:133200 +xref: SNOMEDCT_US_2015_03_01:254184006 +xref: SNOMEDCT_US_2015_03_01:70041004 +xref: UMLS_CUI:C0265961 +xref: UMLS_CUI:C1851480 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050468 +name: yellow nail syndrome +def: "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached." [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:L60.5 +xref: MSH:D056684 +xref: NCI:C85238 +xref: OMIM:153300 +xref: SNOMEDCT_US_2015_03_01:400211001 +xref: SNOMEDCT_US_2015_03_01:45342007 +xref: UMLS_CUI:C0221348 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:0050469 +name: Costello syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Faciocutaneoskeletal Syndrome" EXACT [] +synonym: "FCS SYNDROME" EXACT [] +xref: MSH:D056685 +xref: NCI:C84652 +xref: OMIM:218040 +xref: SNOMEDCT_US_2015_03_01:205803001 +xref: SNOMEDCT_US_2015_03_01:309776008 +xref: UMLS_CUI:C0587248 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050470 +name: Donohue Syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Leprechaunism" EXACT [] +xref: MSH:D056731 +xref: NCI:C84676 +xref: OMIM:246200 +xref: SNOMEDCT_US_2015_03_01:111307005 +xref: SNOMEDCT_US_2015_03_01:33559001 +xref: UMLS_CUI:C0265344 +xref: UMLS_CUI:C0271695 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050471 +name: Carney complex +def: "An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Carney Complex, Type 1" EXACT [] +synonym: "Carney Complex, Type 2" EXACT [] +synonym: "Carney Syndrome" EXACT [] +synonym: "LAMB Syndrome" EXACT [] +synonym: "NAME Syndrome" EXACT [] +xref: MSH:D056733 +xref: NCI:C4705 +xref: OMIM:160980 +xref: OMIM:605244 +xref: OMIM:608837 +xref: ORDO:1359 +xref: SNOMEDCT_US_2015_03_01:239132009 +xref: UMLS_CUI:C0406810 +xref: UMLS_CUI:C1854540 +xref: UMLS_CUI:C2607929 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050472 +name: monilethrix +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q84.1 +xref: MSH:D056734 +xref: NCI:C84894 +xref: OMIM:158000 +xref: SNOMEDCT_US_2015_03_01:205596006 +xref: SNOMEDCT_US_2015_03_01:276482004 +xref: SNOMEDCT_US_2015_03_01:69488000 +xref: UMLS_CUI:C0546966 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050473 +name: Alstrom syndrome +def: "An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene." [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D056769 +xref: NCI:C84549 +xref: OMIM:203800 +xref: SNOMEDCT_US_2015_03_01:63702009 +xref: UMLS_CUI:C0268425 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050474 +name: Netherton syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D056770 +xref: NCI:C84922 +xref: OMIM:256500 +xref: SNOMEDCT_US_2015_03_01:205555008 +xref: SNOMEDCT_US_2015_03_01:239058007 +xref: SNOMEDCT_US_2015_03_01:254127001 +xref: SNOMEDCT_US_2015_03_01:312514006 +xref: SNOMEDCT_US_2015_03_01:34638006 +xref: SNOMEDCT_US_2015_03_01:54336006 +xref: UMLS_CUI:C0265962 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050475 +name: Weill-Marchesani syndrome +def: "An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +synonym: "congenital mesodermal dystrophy" EXACT [] +synonym: "GEMSS syndrome" EXACT [] +synonym: "Marchesani-Weill Syndrome" EXACT [] +synonym: "Mesodermal Dysmorphodystrophy, Congenital" EXACT [] +synonym: "Spherophakia Brachymorphia Syndrome" EXACT [] +xref: MSH:D056846 +xref: NCI:C85226 +xref: OMIM:277600 +xref: OMIM:608328 +xref: OMIM:613195 +xref: OMIM:614819 +xref: ORDO:3449 +xref: SNOMEDCT_US_2015_03_01:205801004 +xref: SNOMEDCT_US_2015_03_01:2884008 +xref: UMLS_CUI:C0265313 +xref: UMLS_CUI:C1869114 +xref: UMLS_CUI:C1869115 +is_a: DOID:0050739 ! autosomal genetic disease + +[Term] +id: DOID:0050476 +name: Barth syndrome +def: "A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin." [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "3-methylglutaconicaciduria type 2" EXACT [] +synonym: "3-methylglutaconicaciduria type II" EXACT [] +synonym: "MGA Type 2" EXACT [] +synonym: "MGA type II" EXACT [] +xref: ICD10CM:E78.71 +xref: MSH:D056889 +xref: NCI:C84585 +xref: OMIM:302060 +xref: SNOMEDCT_US_2015_03_01:297231002 +xref: UMLS_CUI:C0574083 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:0050477 +name: Liddle syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Liddle's syndrome" EXACT [] +synonym: "Pseudoaldosteronism" EXACT [] +xref: MSH:D056929 +xref: NCI:C84827 +xref: OMIM:177200 +xref: SNOMEDCT_US_2015_03_01:190901004 +xref: SNOMEDCT_US_2015_03_01:237493003 +xref: SNOMEDCT_US_2015_03_01:707749005 +xref: SNOMEDCT_US_2015_03_01:71275003 +xref: UMLS_CUI:C0221043 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:0050478 +name: primary Escherichia coli infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050479 +name: commensal Klebsiella infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Klebsiella infection" EXACT [CSP2005:0368-2705] +is_obsolete: true + +[Term] +id: DOID:0050480 +name: epidemic typhus +def: "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "sylvatic typhus" EXACT [] +is_a: DOID:11256 ! typhus + +[Term] +id: DOID:0050481 +name: endemic typhus +alt_id: DOID:0050028 +alt_id: DOID:0050029 +alt_id: DOID:0050030 +alt_id: DOID:0050057 +alt_id: DOID:0050058 +def: "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Murine_typhus] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "cat flea rickettsiosis" EXACT [] +synonym: "fleaborne typhus" EXACT [] +synonym: "murine typhus" EXACT [] +synonym: "Rat-Flea Typhus" EXACT [] +synonym: "Rickettsia felis spotted fever" EXACT [] +synonym: "Shop typhus" RELATED [] +synonym: "toulon typhus" EXACT [] +synonym: "urban typhus" EXACT [] +synonym: "Urban Typhus of Malaya" EXACT [] +is_a: DOID:11256 ! typhus + +[Term] +id: DOID:0050482 +name: lymphangitis-associated rickettsiosis +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050483 +name: Rickettsia aeschlimannii spotted fever +is_obsolete: true + +[Term] +id: DOID:0050484 +name: aneruptive fever +def: "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Rickettsia helvetica spotted fever" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:0050485 +name: sennetsu fever +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia." [url:http\://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Sennetsu ehrlichiosis" EXACT [] +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:0050486 +name: exanthem +synonym: "exanthema" EXACT [] +synonym: "Rash" EXACT [] +xref: ICD10CM:R21 +xref: ICD9CM:782.1 +xref: MSH:D005076 +xref: NCI:C111884 +xref: NCI:C39594 +xref: SNOMEDCT_US_2015_03_01:112625008 +xref: SNOMEDCT_US_2015_03_01:139684003 +xref: SNOMEDCT_US_2015_03_01:158230006 +xref: SNOMEDCT_US_2015_03_01:158231005 +xref: SNOMEDCT_US_2015_03_01:158234002 +xref: SNOMEDCT_US_2015_03_01:1806006 +xref: SNOMEDCT_US_2015_03_01:206860008 +xref: SNOMEDCT_US_2015_03_01:206861007 +xref: SNOMEDCT_US_2015_03_01:206864004 +xref: SNOMEDCT_US_2015_03_01:267183006 +xref: SNOMEDCT_US_2015_03_01:271807003 +xref: UMLS_CUI:C0015230 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:0050487 +name: bacterial exanthem +is_a: DOID:0050486 ! exanthem + +[Term] +id: DOID:0050488 +name: early congenital syphilis +def: "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis." [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] +subset: gram-negative_bacterial_infectious_disease +is_a: DOID:9856 ! congenital syphilis + +[Term] +id: DOID:0050489 +name: multinodular goiter +def: "A goiter characterized by a multinodular enlargement of the thyroid gland." [url:http\://en.wikipedia.org/wiki/Multinodular_goitre] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: OMIM:138800 +xref: OMIM:300273 +xref: OMIM:606082 +xref: ORDO:276399 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:0050490 +name: parenchymatous neurosyphilis +def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_a: DOID:9988 ! tertiary neurosyphilis + +[Term] +id: DOID:0050491 +name: meningovascular neurosyphilis +def: "A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_a: DOID:9988 ! tertiary neurosyphilis + +[Term] +id: DOID:0050492 +name: tertiary syphilitic encephalitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050493 +name: tertiary syphilitic meningitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050494 +name: Papillomaviridae infectious disease +def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae] +is_obsolete: true + +[Term] +id: DOID:0050495 +name: exanthema subitum +def: "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck." [url:http\://en.wikipedia.org/wiki/Exanthema_subitum] +synonym: "Roseola Infantum" EXACT [] +synonym: "Sixth Disease" EXACT [] +xref: ICD10CM:B08.2 +xref: ICD10CM:B08.20 +xref: ICD9CM:058.1 +xref: ICD9CM:058.10 +xref: MSH:D005077 +xref: SNOMEDCT_US_2015_03_01:154343004 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:240559001 +xref: SNOMEDCT_US_2015_03_01:266192003 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:402902002 +xref: SNOMEDCT_US_2015_03_01:54385001 +xref: UMLS_CUI:C0015231 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050496 +name: Banna virus encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache." [url:http\://vir.sgmjournals.org/cgi/reprint/86/4/1147, url:http\://www.cdc.gov/EID/content/14/8/1276.htm] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:0050497 +name: Anelloviridae infectious disease +def: "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses." [url:http\://en.wikipedia.org/wiki/Anelloviridae] +is_obsolete: true + +[Term] +id: DOID:0050498 +name: dsDNA virus infectious disease +def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "double stranded DNA virus infectious disease" EXACT [] +synonym: "dsDNA virus infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050499 +name: ssDNA virus infectious disease +def: "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "single stranded DNA virus infectious disease" EXACT [] +synonym: "ssDNA virus infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050500 +name: dsDNA-RT virus infectious disease +def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "double stranded DNA reverse transcribing virus infectious disease" EXACT [] +synonym: "double stranded DNA-reverse transcribing virus infection" EXACT [] +synonym: "dsDNA-RT virus infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050501 +name: dsRNA virus infectious disease +def: "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "double stranded RNA virus infectious disease" EXACT [] +synonym: "dsRNA virus infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050502 +name: (+)ssRNA virus infectious disease +def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "(+)ssRNA virus infection" EXACT [] +synonym: "Positive Stranded ssRNA Virus infectious disease" EXACT [] +synonym: "positive-sense single stranded RNA virus infectious disease" EXACT [] +synonym: "positive-sense ssRNA virus infection" EXACT [] +synonym: "positive-sense ssRNA virus infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050503 +name: (-)ssRNA virus infectious disease +def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "(-)ssRNA virus infection" EXACT [] +synonym: "Negative Stranded ssRNA Virus infectious disease" EXACT [] +synonym: "negative-sense single stranded RNA virus infectious disease" EXACT [] +synonym: "negative-sense ssRNA virus infection" EXACT [] +synonym: "negative-sense ssRNA virus infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050504 +name: ssRNA-RT virus infectious disease +def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification] +synonym: "single stranded RNA reverse transcribing virus infectious disease" EXACT [] +synonym: "ssRNA-RT virus infection" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050505 +name: human papilloma virus related anal squamous cell carcinoma +def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus." [url:http\://www.infectagentscancer.com/content/5/1/17] +is_obsolete: true + +[Term] +id: DOID:0050506 +name: human papilloma virus related vaginal squamous cell carcinoma +def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://emedicine.medscape.com/article/269188-overview] +is_obsolete: true + +[Term] +id: DOID:0050507 +name: AIDS-related cryptosporidiosis +is_obsolete: true + +[Term] +id: DOID:0050508 +name: variola major +def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions." [url:http\://www.who.int/mediacentre/factsheets/smallpox/en/] +xref: ICD9CM:050.0 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:47452006 +xref: UMLS_CUI:C1812609 +is_a: DOID:8736 ! smallpox + +[Term] +id: DOID:0050509 +name: AIDS-related toxoplasmosis +is_obsolete: true + +[Term] +id: DOID:0050510 +name: AIDS-related cystoisosporiasis +synonym: "AIDS-related isosporiasis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050511 +name: Human torovirus gastroenteritis +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea." [url:http\://www.jstor.org/stable/30117350] +is_obsolete: true + +[Term] +id: DOID:0050512 +name: Saffold virus gastroenteritis +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting." [url:http\://jvi.asm.org/cgi/content/full/83/9/4631, url:http\://www.cdc.gov/EID/content/15/9/1509.htm] +is_obsolete: true + +[Term] +id: DOID:0050513 +name: spinal polio +def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs." [url:http\://en.wikipedia.org/wiki/Poliomyelitis] +is_a: DOID:0050515 ! paralytic poliomyelitis + +[Term] +id: DOID:0050514 +name: bulbospinal polio +def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs." [url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] +is_a: DOID:0050515 ! paralytic poliomyelitis + +[Term] +id: DOID:0050515 +name: paralytic poliomyelitis +def: "A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." [url:http\://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] +is_a: DOID:4953 ! poliomyelitis + +[Term] +id: DOID:0050516 +name: O'nyong'nyong fever +def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false] +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050517 +name: Barmah Forest virus disease +def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:http\://health.vic.gov.au/ideas/bluebook/barmah_forest] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050518 +name: Ross River fever +def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Ross_River_fever] +subset: zoonotic_infectious_disease +synonym: "Ross River virus disease" EXACT [] +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050519 +name: Lymphocytic choriomeningitis virus meningitis +def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] +is_obsolete: true + +[Term] +id: DOID:0050520 +name: Lymphocytic choriomeningitis virus meningoencephalitis +def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] +is_obsolete: true + +[Term] +id: DOID:0050521 +name: Oropouche fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting." [url:http\://en.wikipedia.org/wiki/Oropouche_fever, url:http\://www.cdc.gov/EID/content/13/6/912.htm] +subset: zoonotic_infectious_disease +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0050522 +name: Balkan hemorrhagic fever +def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." [url:http\://emedicine.medscape.com/article/982142-overview] +subset: zoonotic_infectious_disease +is_a: DOID:11266 ! hemorrhagic fever with renal syndrome + +[Term] +id: DOID:0050523 +name: adult T-cell leukemia +def: "A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184] +subset: NCIthesaurus +synonym: "Adult T-cell leukemia/lymphoma" EXACT [] +xref: ICD10CM:C91.5 +xref: ICD10CM:C91.50 +xref: MSH:D015459 +xref: NCI:C3184 +xref: SNOMEDCT_US_2015_03_01:110007008 +xref: SNOMEDCT_US_2015_03_01:188729005 +xref: SNOMEDCT_US_2015_03_01:77430005 +xref: UMLS_CUI:C0023493 +is_a: DOID:715 ! T-cell leukemia + +[Term] +id: DOID:0050524 +name: maturity-onset diabetes of the young +def: "A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production." [url:http\://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Mason-type diabetes" EXACT [] +synonym: "MODY" EXACT [] +xref: ICD10CM:E11.8 +xref: KEGG:04950 +xref: OMIM:125850 +xref: OMIM:125851 +xref: OMIM:137920 +xref: OMIM:600496 +xref: OMIM:606391 +xref: OMIM:606392 +xref: OMIM:606394 +xref: OMIM:609812 +xref: OMIM:610508 +xref: OMIM:612225 +xref: OMIM:613370 +xref: OMIM:613375 +xref: OMIM:616329 +xref: OMIM:616511 +xref: ORDO:552 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:0050525 +name: acroosteolysis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acro-osteolysis" EXACT [] +synonym: "Acroosteolysis syndrome" RELATED [SNOMEDCT_2005_07_31:27201004] +is_obsolete: true + +[Term] +id: DOID:0050526 +name: Gamstorp-Wohlfart syndrome +def: "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs." [url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [] +synonym: "myokymia, myotonia and muscle wasting" EXACT [] +xref: OMIM:137200 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:0050527 +name: familial hypertriglyceridemia +def: "A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency." [url:http\://en.wikipedia.org/wiki/Familial_hypertriglyceridemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pure hyperglyceridemia" EXACT [] +xref: OMIM:145750 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:0050528 +name: nonphotosensitive trichothiodystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "AMISH BRITTLE HAIR BRAIN SYNDROME" EXACT [] +synonym: "BIDS SYNDROME" EXACT [] +synonym: "HAIR-BRAIN SYNDROME" EXACT [] +xref: OMIM:234050 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050529 +name: adult spinal muscular atrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "SPINAL MUSCULAR ATROPHY, ADULT FORM" EXACT [] +synonym: "SPINAL MUSCULAR ATROPHY, TYPE IV" EXACT [] +xref: OMIM:271150 +is_a: DOID:12377 ! spinal muscular atrophy + +[Term] +id: DOID:0050530 +name: intermediate spinal muscular atrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM" EXACT [] +synonym: "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE" EXACT [] +xref: OMIM:253550 +is_a: DOID:12377 ! spinal muscular atrophy + +[Term] +id: DOID:0050531 +name: lentiginosis profusa +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "LENTIGINOSIS, DIFFUSE" EXACT [] +synonym: "LENTIGINOSIS, GENERALIZED" EXACT [] +synonym: "LENTIGINOSIS, INHERITED PATTERNED" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050532 +name: epidermal nevus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC" EXACT [] +synonym: "PIGMENTED MOLES" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050533 +name: soldiers heart +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "IRRITABLE HEART" EXACT [] +synonym: "MITRAL VALVE PROLAPSE SYNDROME" EXACT [] +synonym: "NEUROCIRCULATORY ASTHENIA" EXACT [] +synonym: "ORTHOSTATIC INTOLERANCE" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050534 +name: congenital stationary night blindness +def: "A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves." [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "congenital essential nyctalopia" EXACT [] +xref: ICD10CM:H53.63 +xref: ICD9CM:368.61 +xref: MSH:C537743 +xref: OMIM:163500 +xref: OMIM:257270 +xref: OMIM:300071 +xref: OMIM:310500 +xref: OMIM:610427 +xref: OMIM:610444 +xref: OMIM:610445 +xref: OMIM:613216 +xref: OMIM:613830 +xref: OMIM:614565 +xref: OMIM:615058 +xref: OMIM:616389 +xref: ORDO:215 +xref: SNOMEDCT_US_2015_03_01:193687000 +xref: SNOMEDCT_US_2015_03_01:193688005 +xref: SNOMEDCT_US_2015_03_01:193689002 +xref: SNOMEDCT_US_2015_03_01:89208008 +xref: UMLS_CUI:C1306122 +is_a: DOID:8499 ! night blindness + +[Term] +id: DOID:0050535 +name: exudative vitreoretinopathy +def: "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "familial exudative vitreoretinopathy" EXACT [] +synonym: "FEVR" EXACT [] +xref: ICD10CM:H35.00 +xref: ICD9CM:362.10 +xref: OMIM:133780 +xref: OMIM:305390 +xref: OMIM:601813 +xref: OMIM:605750 +xref: OMIM:613310 +xref: ORDO:891 +xref: SNOMEDCT_US_2015_03_01:193355009 +xref: SNOMEDCT_US_2015_03_01:31411005 +xref: SNOMEDCT_US_2015_03_01:42873008 +xref: UMLS_CUI:C0004608 +is_a: DOID:2462 ! retinal vascular disease + +[Term] +id: DOID:0050536 +name: SC phocomelia syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Hypomelia Hypotrichosis Facial hemangioma syndrome" EXACT [] +synonym: "SC PSEUDOTHALIDOMIDE SYNDROME" EXACT [] +xref: OMIM:269000 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050537 +name: posterior polar cataract +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "CATARACT, POSTERIOR POLAR" EXACT [] +xref: OMIM:116600 +xref: OMIM:605387 +xref: OMIM:610623 +xref: OMIM:613763 +is_a: DOID:83 ! cataract + +[Term] +id: DOID:0050538 +name: Charcot-Marie-Tooth disease type 1 +def: "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "hereditary motor and sensory neuropathy type 1" EXACT [] +xref: OMIM:118200 +xref: OMIM:118220 +xref: OMIM:118300 +xref: OMIM:601098 +xref: OMIM:607678 +xref: OMIM:607734 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050539 +name: Charcot-Marie-Tooth disease type 2 +def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [url:http\://www.ncbi.nlm.nih.gov/pubmed/25098539, url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [] +synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [] +synonym: "hereditary motor and sensory neuropathy type 2" EXACT [] +xref: ICD9CM:356.0 +xref: OMIM:118210 +xref: OMIM:118230 +xref: OMIM:600882 +xref: OMIM:601472 +xref: OMIM:604484 +xref: OMIM:605588 +xref: OMIM:605589 +xref: OMIM:606071 +xref: OMIM:606595 +xref: OMIM:607677 +xref: OMIM:607684 +xref: OMIM:607731 +xref: OMIM:607736 +xref: OMIM:607831 +xref: OMIM:608591 +xref: OMIM:608673 +xref: OMIM:609260 +xref: OMIM:613287 +xref: OMIM:614228 +xref: OMIM:614436 +xref: OMIM:615025 +xref: OMIM:615490 +xref: OMIM:616155 +xref: OMIM:616233 +xref: OMIM:616280 +xref: OMIM:616491 +xref: ORDO:64746 +xref: SNOMEDCT_US_2015_03_01:128202008 +xref: SNOMEDCT_US_2015_03_01:193158000 +xref: SNOMEDCT_US_2015_03_01:193159008 +xref: SNOMEDCT_US_2015_03_01:65017003 +xref: UMLS_CUI:C0392553 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050540 +name: Charcot-Marie-Tooth disease type 3 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "DEJERINE-SOTTAS NEUROPATHY" EXACT [] +synonym: "DEJERINE-SOTTAS SYNDROME" EXACT [] +xref: OMIM:145900 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050541 +name: Charcot-Marie-Tooth disease type 4 +alt_id: DOID:0050582 +def: "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] +comment: MERGED COMMENT:\nTARGET COMMENT: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\n--------------------\nSOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "distal hereditary motor neuropathy" EXACT [] +synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [] +synonym: "spinal CMT" EXACT [] +xref: OMIM:145900 +xref: OMIM:158580 +xref: OMIM:158590 +xref: OMIM:182960 +xref: OMIM:214400 +xref: OMIM:600794 +xref: OMIM:601382 +xref: OMIM:601455 +xref: OMIM:601596 +xref: OMIM:604563 +xref: OMIM:605253 +xref: OMIM:605285 +xref: OMIM:607641 +xref: OMIM:607706 +xref: OMIM:608634 +xref: OMIM:609311 +xref: OMIM:611228 +xref: OMIM:613376 +xref: OMIM:614751 +xref: OMIM:614895 +xref: OMIM:615284 +xref: OMIM:615575 +xref: ORDO:64749 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050542 +name: Charcot-Marie-Tooth disease type X +def: "A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Cowchock syndrome" EXACT [] +synonym: "COWCK" EXACT [] +xref: OMIM:300905 +xref: OMIM:302800 +xref: OMIM:302801 +xref: OMIM:302802 +xref: OMIM:310490 +xref: OMIM:311070 +xref: ORDO:64747 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050543 +name: Charcot-Marie-Tooth disease intermediate type +def: "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16775371, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Charcot-Marie-Tooth disease dominant intermediate" EXACT [] +synonym: "Charcot-Marie-Tooth disease recessive intermediate" EXACT [] +xref: OMIM:606482 +xref: OMIM:606483 +xref: OMIM:607791 +xref: OMIM:608323 +xref: OMIM:608340 +xref: OMIM:613641 +xref: OMIM:614455 +xref: OMIM:615185 +xref: OMIM:615376 +xref: OMIM:616039 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease + +[Term] +id: DOID:0050544 +name: hypermethioninemia +def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body." [url:http\://en.wikipedia.org/wiki/Hypermethioninemia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" EXACT [] +xref: OMIM:613752 +xref: OMIM:614300 +xref: ORDO:289290 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:0050545 +name: visceral heterotaxy +def: "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen." [url:http\://en.wikipedia.org/wiki/Situs_ambiguus] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "heterotaxia" EXACT [] +synonym: "situs ambiguus" EXACT [] +xref: OMIM:306955 +xref: OMIM:605376 +xref: OMIM:606325 +xref: OMIM:613751 +xref: OMIM:614779 +xref: ORDO:450 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:0050546 +name: congenital adrenal insufficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" EXACT [] +synonym: "P450scc DEFICIENCY" EXACT [] +xref: OMIM:613743 +is_a: DOID:9553 ! adrenal gland disease + +[Term] +id: DOID:0050547 +name: familial medullary thyroid carcinoma +def: "A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance." [] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "THYROID CARCINOMA, FAMILIAL MEDULLARY" EXACT [] +xref: OMIM:155240 +is_a: DOID:3973 ! thyroid medullary carcinoma + +[Term] +id: DOID:0050548 +name: hereditary sensory neuropathy +def: "A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages." [url:http\://omim.org/entry/616488?search=616488&highlight=616488] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "congenital insensitivity to pain" EXACT [] +synonym: "familial dysautonomia, type II" EXACT [] +synonym: "hereditary sensory and autonomic neuropathy" EXACT [] +xref: OMIM:162400 +xref: OMIM:201300 +xref: OMIM:256800 +xref: OMIM:256860 +xref: OMIM:310470 +xref: OMIM:608088 +xref: OMIM:608654 +xref: OMIM:613115 +xref: OMIM:613640 +xref: OMIM:613708 +xref: OMIM:614116 +xref: OMIM:614213 +xref: OMIM:614653 +xref: OMIM:615548 +xref: OMIM:615632 +xref: OMIM:616488 +is_a: DOID:0060053 ! peripheral neuropathy + +[Term] +id: DOID:0050549 +name: Saldino-Noonan syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "type I short rib polydactyly syndrome" EXACT [] +xref: OMIM:263530 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:0050550 +name: Majewski syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "type II short rib-polydactyly syndrome" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050551 +name: Verma-Naumoff syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "type III short rib-polydactyly syndrome" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050553 +name: JMP syndrome +def: "An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy." [url:http\://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf, url:http\://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY" EXACT [] +xref: OMIM:613732 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050554 +name: X-linked sideroblastic anemia with ataxia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Anemia sideroblastic and spinocerebellar ataxia" EXACT [] +synonym: "X-linked sideroblastic anemia and ataxia" EXACT [] +xref: OMIM:301310 +is_a: DOID:8955 ! sideroblastic anemia + +[Term] +id: DOID:0050556 +name: infantile onset spinocerebellar ataxia +synonym: "OHAHA SYNDROME" EXACT [] +xref: OMIM:271245 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia + +[Term] +id: DOID:0050557 +name: congenital muscular dystrophy +def: "A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities." [url:http\://www.ninds.nih.gov/disorders/md/detail_md.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD9CM:359.0 +xref: OMIM:253900 +xref: OMIM:254100 +xref: OMIM:602541 +xref: OMIM:602771 +xref: OMIM:604801 +xref: OMIM:606612 +xref: OMIM:607855 +xref: OMIM:608840 +xref: OMIM:609456 +xref: OMIM:613204 +xref: OMIM:613205 +xref: ORDO:97242 +xref: SNOMEDCT_US_2015_03_01:111501005 +xref: SNOMEDCT_US_2015_03_01:193221009 +xref: SNOMEDCT_US_2015_03_01:193224001 +xref: UMLS_CUI:C2937300 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:0050558 +name: Ullrich congenital muscular dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ULLRICH DISEASE" EXACT [] +synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [] +xref: OMIM:254090 +is_a: DOID:0050557 ! congenital muscular dystrophy + +[Term] +id: DOID:0050559 +name: Fukuyama congenital muscular dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:253800 +is_a: DOID:0050557 ! congenital muscular dystrophy + +[Term] +id: DOID:0050560 +name: Walker-Warburg syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [] +synonym: "HARD syndrome" EXACT [] +xref: OMIM:236670 +xref: OMIM:253280 +is_a: DOID:0050557 ! congenital muscular dystrophy + +[Term] +id: DOID:0050561 +name: Lennox-Gastaut syndrome +synonym: "Lennox syndrome" EXACT [] +xref: OMIM:606369 +is_a: DOID:0050704 ! childhood electroclinical syndrome + +[Term] +id: DOID:0050562 +name: West syndrome +is_a: DOID:0050703 ! infancy electroclinical syndrome + +[Term] +id: DOID:0050563 +name: nonsyndromic deafness +def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." [url:http\://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness, url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742] +synonym: "nonsyndromic hearing loss" EXACT [] +synonym: "nonsyndromic hereditary hearing loss" EXACT [] +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:0050564 +name: autosomal dominant nonsyndromic deafness +def: "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "autosomal dominant deafness" EXACT [] +xref: ICD10CM:H90.3 +xref: OMIM:124900 +xref: OMIM:600101 +xref: OMIM:600652 +xref: OMIM:600965 +xref: OMIM:600994 +xref: OMIM:601316 +xref: OMIM:601317 +xref: OMIM:601369 +xref: OMIM:601412 +xref: OMIM:601543 +xref: OMIM:601544 +xref: OMIM:601868 +xref: OMIM:602459 +xref: OMIM:603622 +xref: OMIM:603964 +xref: OMIM:604717 +xref: OMIM:605192 +xref: OMIM:605583 +xref: OMIM:605594 +xref: OMIM:606012 +xref: OMIM:606282 +xref: OMIM:606346 +xref: OMIM:606451 +xref: OMIM:606705 +xref: OMIM:607017 +xref: OMIM:607197 +xref: OMIM:607453 +xref: OMIM:607683 +xref: OMIM:607841 +xref: OMIM:608224 +xref: OMIM:608372 +xref: OMIM:608394 +xref: OMIM:608641 +xref: OMIM:608645 +xref: OMIM:608652 +xref: OMIM:609965 +xref: OMIM:612431 +xref: OMIM:612642 +xref: OMIM:612643 +xref: OMIM:612644 +xref: OMIM:613074 +xref: OMIM:613558 +xref: OMIM:614152 +xref: OMIM:614211 +xref: OMIM:614314 +xref: OMIM:614614 +xref: OMIM:615629 +xref: OMIM:615649 +xref: OMIM:615654 +xref: OMIM:616044 +xref: OMIM:616340 +xref: OMIM:616357 +xref: ORDO:90635 +is_a: DOID:0050563 ! nonsyndromic deafness + +[Term] +id: DOID:0050565 +name: autosomal recessive nonsyndromic deafness +def: "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "autosomal recessive deafness" EXACT [] +xref: ICD10CM:H90.3 +xref: OMIM:220290 +xref: OMIM:600060 +xref: OMIM:600316 +xref: OMIM:600792 +xref: OMIM:600971 +xref: OMIM:600974 +xref: OMIM:601071 +xref: OMIM:601072 +xref: OMIM:601386 +xref: OMIM:601869 +xref: OMIM:602092 +xref: OMIM:603010 +xref: OMIM:603098 +xref: OMIM:603629 +xref: OMIM:603678 +xref: OMIM:603720 +xref: OMIM:604060 +xref: OMIM:605316 +xref: OMIM:605428 +xref: OMIM:605818 +xref: OMIM:607039 +xref: OMIM:607084 +xref: OMIM:607101 +xref: OMIM:607197 +xref: OMIM:607239 +xref: OMIM:607821 +xref: OMIM:608219 +xref: OMIM:608264 +xref: OMIM:608265 +xref: OMIM:608565 +xref: OMIM:608653 +xref: OMIM:609006 +xref: OMIM:609439 +xref: OMIM:609533 +xref: OMIM:609646 +xref: OMIM:609647 +xref: OMIM:609706 +xref: OMIM:609823 +xref: OMIM:609941 +xref: OMIM:609946 +xref: OMIM:609952 +xref: OMIM:610143 +xref: OMIM:610153 +xref: OMIM:610154 +xref: OMIM:610212 +xref: OMIM:610220 +xref: OMIM:610248 +xref: OMIM:610265 +xref: OMIM:610419 +xref: OMIM:611022 +xref: OMIM:611451 +xref: OMIM:612433 +xref: OMIM:612645 +xref: OMIM:612789 +xref: OMIM:613079 +xref: OMIM:613285 +xref: OMIM:613307 +xref: OMIM:613391 +xref: OMIM:613392 +xref: OMIM:613453 +xref: OMIM:613557 +xref: OMIM:613685 +xref: OMIM:613718 +xref: OMIM:613865 +xref: OMIM:613916 +xref: OMIM:614035 +xref: OMIM:614414 +xref: OMIM:614617 +xref: OMIM:614861 +xref: OMIM:614899 +xref: OMIM:614934 +xref: OMIM:614944 +xref: OMIM:614945 +xref: OMIM:615429 +xref: OMIM:615540 +xref: OMIM:615837 +xref: OMIM:615974 +xref: OMIM:616042 +xref: OMIM:616515 +xref: ORDO:90635 +is_a: DOID:0050563 ! nonsyndromic deafness + +[Term] +id: DOID:0050566 +name: X-linked nonsyndromic deafness +def: "A nonsyndromic deafness characterized by an X-linked inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "X-linked deafness" EXACT [] +xref: ICD10CM:H90.3 +xref: OMIM:300030 +xref: OMIM:300066 +xref: OMIM:300614 +xref: OMIM:300914 +xref: OMIM:304400 +xref: OMIM:304500 +xref: ORDO:90625 +is_a: DOID:0050563 ! nonsyndromic deafness + +[Term] +id: DOID:0050567 +name: orofacial cleft +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: OMIM:119530 +xref: OMIM:600625 +xref: OMIM:600757 +xref: OMIM:602966 +xref: OMIM:608371 +xref: OMIM:608864 +xref: OMIM:608874 +xref: OMIM:610361 +xref: OMIM:612858 +xref: OMIM:613705 +xref: OMIM:613857 +xref: OMIM:615892 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:0050568 +name: spondylocostal dysostosis +def: "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together." [url:http\://en.wikipedia.org/wiki/Spondylocostal_dysostosis, url:http\://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Jarcho-Levin syndrome" EXACT [] +synonym: "spondylocostal dysostosis, autosomal recessive 3 " EXACT [] +synonym: "spondylothoracic dysostosis" EXACT [] +synonym: "spondylothoracic dysplasia" EXACT [] +xref: OMIM:122600 +xref: OMIM:277300 +xref: OMIM:608681 +xref: OMIM:609813 +xref: OMIM:613686 +xref: ORDO:1797 +xref: ORDO:2311 +is_a: DOID:1934 ! dysostosis + +[Term] +id: DOID:0050569 +name: Seckel syndrome +def: "An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability." [url:http\://en.wikipedia.org/wiki/Seckel_syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "bird-headed dwarfism" EXACT [] +synonym: "Harper's syndrome" EXACT [] +synonym: "microcephalic primordial dwarfism" EXACT [] +synonym: "Virchow-Seckel dwarfism" EXACT [] +xref: ICD10CM:Q87.1 +xref: OMIM:210600 +xref: OMIM:606744 +xref: OMIM:608664 +xref: OMIM:613676 +xref: OMIM:613823 +xref: OMIM:614728 +xref: OMIM:614851 +xref: OMIM:615807 +xref: ORDO:808 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050570 +name: congenital disorder of glycosylation type I +def: "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ALG1-CDG (CDG-1k)" EXACT [] +synonym: "ALG11-CDG (CDG-1p)" EXACT [] +synonym: "ALG12-CDG (CDG-1g)" EXACT [] +synonym: "ALG2-CDG (CDG-1i)" EXACT [] +synonym: "ALG3-CDG (CDG-1d)" EXACT [] +synonym: "ALG6-CDG (CDG-1c)" EXACT [] +synonym: "ALG8-CDG (CDG-1h)" EXACT [] +synonym: "ALG9-CDG (CDG-1l)" EXACT [] +synonym: "DOLK-CDG (CDG-1m)" EXACT [] +synonym: "DPAGT1-CDG (CDG-1j)" EXACT [] +synonym: "DPM1-CDG (CDG-1e)" EXACT [] +synonym: "DPM2-CDG (CDG-1u)" EXACT [] +synonym: "DPM3-CDG (CDG-1o)" EXACT [] +synonym: "MPDU1-CDG (CDG-1f)" EXACT [] +synonym: "MPI-CDG (CDG-1b)" EXACT [] +synonym: "PMM2-CDG (CDG-1a)" EXACT [] +synonym: "RFT1-CDG (CDG-1n)" EXACT [] +synonym: "SRD5A3-CDG (CDG-1q)" EXACT [] +xref: OMIM:212065 +xref: OMIM:601110 +xref: OMIM:602579 +xref: OMIM:603147 +xref: OMIM:607143 +xref: OMIM:607906 +xref: OMIM:608093 +xref: OMIM:608104 +xref: OMIM:608540 +xref: OMIM:608776 +xref: OMIM:608799 +xref: OMIM:609180 +xref: OMIM:610768 +xref: OMIM:612015 +xref: OMIM:612379 +xref: OMIM:612937 +xref: OMIM:613661 +is_a: DOID:5212 ! congenital disorder of glycosylation + +[Term] +id: DOID:0050571 +name: congenital disorder of glycosylation type II +def: "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "B4GALT1-CDG (CDG-2d)" EXACT [] +synonym: "MGAT2-CDG (CDG-2a)" EXACT [] +synonym: "MOGS-CDG (CDG-2b)" EXACT [] +xref: OMIM:212066 +xref: OMIM:266265 +xref: OMIM:603585 +xref: OMIM:606056 +xref: OMIM:607091 +xref: OMIM:608779 +xref: OMIM:611182 +xref: OMIM:611209 +xref: OMIM:613489 +xref: OMIM:613612 +is_a: DOID:5212 ! congenital disorder of glycosylation + +[Term] +id: DOID:0050572 +name: cone-rod dystrophy +def: "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells." [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "cone-rod dystrophy 5" EXACT [] +synonym: "cone-rod retinal dystrophy" EXACT [] +xref: ICD10CM:H35.5 +xref: OMIM:120970 +xref: OMIM:300085 +xref: OMIM:300476 +xref: OMIM:304020 +xref: OMIM:600624 +xref: OMIM:600977 +xref: OMIM:601777 +xref: OMIM:602093 +xref: OMIM:603649 +xref: OMIM:604116 +xref: OMIM:605549 +xref: OMIM:607476 +xref: OMIM:608194 +xref: OMIM:610283 +xref: OMIM:610381 +xref: OMIM:612657 +xref: OMIM:612775 +xref: OMIM:613660 +xref: OMIM:614500 +xref: OMIM:615163 +xref: OMIM:615374 +xref: OMIM:615860 +xref: OMIM:615973 +xref: ORDO:1872 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:0050573 +name: 2-hydroxyglutaric aciduria +def: "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage." [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:0050574 +name: L-2-hydroxyglutaric aciduria +def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] +synonym: "L-2-HYDROXYGLUTARIC ACIDEMIA" EXACT [] +xref: OMIM:236792 +is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria + +[Term] +id: DOID:0050575 +name: D-2-hydroxyglutaric aciduria +def: "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] +xref: OMIM:600721 +xref: OMIM:613657 +is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria + +[Term] +id: DOID:0050576 +name: Senior-Loken syndrome +def: "An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." [url:http\://www.cigna.com/healthinfo/nord958.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Loken Senior syndrome" EXACT [] +synonym: "renal-retinal syndrome" EXACT [] +xref: ICD10CM:Q61.5 +xref: OMIM:266900 +xref: OMIM:606995 +xref: OMIM:606996 +xref: OMIM:609254 +xref: OMIM:610189 +xref: OMIM:613615 +xref: ORDO:3156 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050577 +name: Sensenbrenner syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cranioectodermal dysplasia" EXACT [] +synonym: "Levin syndrome" EXACT [] +xref: OMIM:218330 +xref: OMIM:613610 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050578 +name: occult macular dystrophy +def: "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings." [url:www.iovs.org/content/41/2/513.full.pdf] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:613587 +is_a: DOID:4448 ! macular degeneration + +[Term] +id: DOID:0050579 +name: glycogen storage disease XV +synonym: "glycogen storage disease type XV" EXACT [] +xref: OMIM:613507 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:0050580 +name: hereditary lymphedema +def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system." [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Milroy's disease" EXACT [] +synonym: "Nonne-Milroy lymphedema" EXACT [] +xref: ICD9CM:757.0 +xref: OMIM:153100 +xref: OMIM:153200 +xref: OMIM:247440 +xref: OMIM:611944 +xref: OMIM:613480 +xref: OMIM:615907 +xref: ORDO:79452 +xref: SNOMEDCT_US_2015_03_01:205542007 +xref: SNOMEDCT_US_2015_03_01:205543002 +xref: SNOMEDCT_US_2015_03_01:205546005 +xref: SNOMEDCT_US_2015_03_01:75127007 +xref: UMLS_CUI:C1313885 +is_a: DOID:4977 ! lymphedema + +[Term] +id: DOID:0050581 +name: brachydactyly +def: "A bone development disease characterized by short fingers and toes." [url:http\://en.wikipedia.org/wiki/Brachydactyly] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: OMIM:112440 +xref: OMIM:112450 +xref: OMIM:112500 +xref: OMIM:112600 +xref: OMIM:112700 +xref: OMIM:112800 +xref: OMIM:112910 +xref: OMIM:113000 +xref: OMIM:113100 +xref: OMIM:113200 +xref: OMIM:113300 +xref: OMIM:301940 +xref: OMIM:607004 +xref: OMIM:611377 +xref: OMIM:613382 +xref: OMIM:615072 +xref: ORDO:294937 +is_a: DOID:1934 ! dysostosis + +[Term] +id: DOID:0050583 +name: Chlamydophila pneumoniae infectious disease +is_obsolete: true + +[Term] +id: DOID:0050584 +name: gummatous syphilis +def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [url:http\://emedicine.medscape.com/article/229461-overview#a0104] +is_a: DOID:8200 ! tertiary syphilis + +[Term] +id: DOID:0050585 +name: congenital generalized lipodystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Beradinelli-Seip syndrome" EXACT [] +xref: OMIM:269700 +xref: OMIM:608594 +xref: OMIM:612526 +xref: OMIM:613327 +is_a: DOID:811 ! lipodystrophy + +[Term] +id: DOID:0050587 +name: trichotillomania +def: "An impulse control disorder that involves the uncontrollable plucking of ones hair." [url:http\://www.forensicpsychiatry.ca/impulse/trich.htm] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:613229 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:0050588 +name: muscular dystrophy-dystroglycanopathy +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "CMD due to dystroglycanopathy" EXACT [ORDO:370953] +xref: ICD10CM:G71.2 +xref: OMIM:613150 +xref: OMIM:613151 +xref: OMIM:613152 +xref: OMIM:613153 +xref: OMIM:613154 +xref: OMIM:613155 +xref: OMIM:613156 +xref: OMIM:613818 +xref: OMIM:614643 +xref: OMIM:614830 +xref: OMIM:615041 +xref: OMIM:615181 +xref: OMIM:615249 +xref: OMIM:615287 +xref: OMIM:615350 +xref: OMIM:615351 +xref: OMIM:616052 +xref: OMIM:616094 +xref: ORDO:370953 +is_a: DOID:0050557 ! congenital muscular dystrophy + +[Term] +id: DOID:0050589 +name: inflammatory bowel disease +def: "An intestinal disease characterized by inflammation located_in all parts of digestive tract." [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: EFO:0003767 +xref: KEGG:05321 +xref: MSH:D015212 +xref: NCI:C3138 +xref: OMIM:266600 +xref: OMIM:601458 +xref: OMIM:604519 +xref: OMIM:605225 +xref: OMIM:606348 +xref: OMIM:606668 +xref: OMIM:606674 +xref: OMIM:606675 +xref: OMIM:608448 +xref: OMIM:611081 +xref: OMIM:612241 +xref: OMIM:612244 +xref: OMIM:612245 +xref: OMIM:612255 +xref: OMIM:612259 +xref: OMIM:612261 +xref: OMIM:612262 +xref: OMIM:612278 +xref: OMIM:612288 +xref: OMIM:612354 +xref: OMIM:612380 +xref: OMIM:612381 +xref: OMIM:612566 +xref: OMIM:612567 +xref: OMIM:612639 +xref: OMIM:612796 +xref: OMIM:613148 +xref: SNOMEDCT_US_2015_03_01:155759008 +xref: SNOMEDCT_US_2015_03_01:196974002 +xref: SNOMEDCT_US_2015_03_01:24526004 +xref: SNOMEDCT_US_2015_03_01:266516008 +xref: UMLS_CUI:C0021390 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:0050590 +name: severe congenital neutropenia +def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17133096] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:D70 +xref: OMIM:202700 +xref: OMIM:300299 +xref: OMIM:610738 +xref: OMIM:612541 +xref: OMIM:613107 +xref: OMIM:615285 +xref: OMIM:616022 +xref: ORDO:486 +xref: ORDO:86788 +is_a: DOID:1227 ! neutropenia + +[Term] +id: DOID:0050591 +name: tooth agenesis +def: "A tooth disease characterized by failure to develop on or more missing teeth." [url:http\://en.wikipedia.org/wiki/Hypodontia] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial tooth agenesis" EXACT [] +synonym: "hypodontia" EXACT [] +synonym: "oligodontia" EXACT [] +synonym: "selective tooth agenesis" EXACT [] +xref: ICD10CM:K00.0 +xref: ICD9CM:520.0 +xref: MSH:D000848 +xref: OMIM:106600 +xref: OMIM:150400 +xref: OMIM:313500 +xref: OMIM:602639 +xref: OMIM:604625 +xref: OMIM:610926 +xref: OMIM:613097 +xref: ORDO:2227 +xref: ORDO:99798 +xref: SNOMEDCT_US_2015_03_01:16958000 +xref: SNOMEDCT_US_2015_03_01:196265005 +xref: SNOMEDCT_US_2015_03_01:196266006 +xref: SNOMEDCT_US_2015_03_01:196269004 +xref: SNOMEDCT_US_2015_03_01:234951001 +xref: SNOMEDCT_US_2015_03_01:26624006 +xref: UMLS_CUI:C0399352 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:0050592 +name: asphyxiating thoracic dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Jeune syndrome" EXACT [] +xref: OMIM:208500 +xref: OMIM:611263 +xref: OMIM:613091 +xref: OMIM:613819 +xref: OMIM:614376 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050593 +name: primary congenital glaucoma +comment: Xref MGI. +subset: DO_MGI_slim +xref: OMIM:613085 +xref: OMIM:613086 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:0050594 +name: glycogen storage disease IX +xref: OMIM:261750 +xref: OMIM:306000 +xref: OMIM:613027 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:0050595 +name: mucormycosis +is_obsolete: true + +[Term] +id: DOID:0050596 +name: taeniasis +alt_id: DOID:10076 +def: "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat." [url:http\://en.wikipedia.org/wiki/Taeniasis] +synonym: "Beef tapeworm infection" RELATED [] +synonym: "Infection by Taeniarhynchus saginatus" RELATED [MTHICD9_2006:123.2] +synonym: "Taenia saginata infectious disease" RELATED [] +xref: ICD10CM:B68.1 +xref: ICD9CM:123.2 +xref: SNOMEDCT_US_2015_03_01:69163003 +xref: UMLS_CUI:C0152073 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:0050597 +name: intestinal schistosomiasis +alt_id: DOID:13692 +alt_id: DOID:13721 +alt_id: DOID:3468 +def: "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia." [url:http\://en.wikipedia.org/wiki/Schistosomiasis] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Katayama fever" EXACT [SNOMEDCT_2005_07_31:268981007] +synonym: "Schistosoma japonicum infection" EXACT [NCI2004_11_17:C35001] +synonym: "Schistosoma mansoni infectious disease" EXACT [] +synonym: "schistosomiasis japonica" EXACT [] +xref: ICD10CM:B65.1 +xref: ICD10CM:B65.2 +xref: ICD9CM:120.1 +xref: ICD9CM:120.2 +xref: MSH:D012554 +xref: MSH:D012555 +xref: NCI:C35001 +xref: NCI:C35002 +xref: NCI:C35364 +xref: OMIM:181460 +xref: ORDO:1247 +xref: SNOMEDCT_US_2015_03_01:187114003 +xref: SNOMEDCT_US_2015_03_01:268058007 +xref: SNOMEDCT_US_2015_03_01:52179003 +xref: SNOMEDCT_US_2015_03_01:6421008 +xref: SNOMEDCT_US_2015_03_01:750009 +xref: UMLS_CUI:C0036329 +xref: UMLS_CUI:C0036330 +xref: UMLS_CUI:C0276932 +is_a: DOID:1395 ! schistosomiasis + +[Term] +id: DOID:0050598 +name: extrapulmonary tuberculosis +def: "A tuberculosis that occurs at body sites other than the lung." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +is_a: DOID:399 ! tuberculosis + +[Term] +id: DOID:0050599 +name: abdominal tuberculosis +def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:0050600 +name: ABCD syndrome +def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." [url:http\://en.wikipedia.org/wiki/ABCD_syndrome, url:http\://omim.org/entry/600501] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS" EXACT [] +xref: OMIM:600501 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050601 +name: ADULT syndrome +def: "An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63." [url:http\://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [] +xref: OMIM:103285 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050602 +name: triple-A syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Achalasia-Addisonianism-Alacrimia syndrome" EXACT [] +synonym: "Allgrove Syndrome" EXACT [] +xref: OMIM:231550 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050603 +name: acheiropody +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acheiropodia" EXACT [] +synonym: "Horn-Kolb Syndrome" EXACT [] +xref: OMIM:200500 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0050604 +name: acrocapitofemoral dysplasia +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:607778 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0050605 +name: acrodermatitis enteropathica +xref: OMIM:201100 +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:0050606 +name: acrokeratosis verruciformis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acrokeratosis verruciformis of Hopf" EXACT [] +synonym: "Hopf disease" EXACT [] +xref: OMIM:101900 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:0050608 +name: Askin's tumor +synonym: "Askin tumor" EXACT [] +is_a: DOID:3369 ! peripheral primitive neuroectodermal tumor + +[Term] +id: DOID:0050610 +name: oral cavity carcinoma in situ +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:0050611 +name: pharynx carcinoma in situ +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:0050612 +name: gall bladder carcinoma in situ +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:0050613 +name: bile duct carcinoma in situ +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:0050614 +name: bronchus carcinoma in situ +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:0050615 +name: respiratory system cancer +def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract." [url:http\://en.wikipedia.org/wiki/Respiratory_tract_neoplasm] +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:0050616 +name: malignant Leydig cell tumor +alt_id: DOID:4755 +synonym: "Leydig cell tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:77870005] +synonym: "malignant interstitial cell tumor" EXACT [] +synonym: "malignant Leydig cell neoplasm" EXACT [NCI2004_11_17:C4213] +xref: NCI:C4213 +xref: SNOMEDCT_US_2015_03_01:77870005 +xref: UMLS_CUI:C0334410 +is_a: DOID:192 ! sex cord-gonadal stromal tumor + +[Term] +id: DOID:0050617 +name: malignant Sertoli cell tumor +is_a: DOID:192 ! sex cord-gonadal stromal tumor + +[Term] +id: DOID:0050618 +name: malignant Sertoli-Leydig cell tumor +is_a: DOID:192 ! sex cord-gonadal stromal tumor + +[Term] +id: DOID:0050619 +name: paranasal sinus cancer +alt_id: DOID:1354 +alt_id: DOID:2442 +alt_id: DOID:2765 +alt_id: DOID:2767 +alt_id: DOID:4689 +def: "A respiratory system cancer that is located_in the paranasal sinuses." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1] +synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019] +synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] +synonym: "Epidermoid carcinoma of the paranasal sinus" EXACT [NCI2004_11_17:C8193] +synonym: "Mucoepidermoid carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6018] +synonym: "paranasal sinus adenocarcinoma" EXACT [] +synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] +synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [] +synonym: "paranasal sinus squamous cell carcinoma" EXACT [] +synonym: "squamous cell carcinoma of paranasal sinus" RELATED [] +xref: MSH:D010255 +xref: NCI:C6014 +xref: NCI:C6017 +xref: NCI:C6018 +xref: NCI:C6019 +xref: NCI:C8193 +xref: UMLS_CUI:C0280334 +xref: UMLS_CUI:C0854995 +xref: UMLS_CUI:C1335336 +xref: UMLS_CUI:C1335337 +xref: UMLS_CUI:C1335340 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:0050620 +name: infiltrating renal pelvis transitional cell carcinoma +is_a: DOID:5974 ! renal pelvis transitional cell carcinoma + +[Term] +id: DOID:0050621 +name: respiratory system benign neoplasm +def: "An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm." [url:http\://en.wikipedia.org/wiki/Respiratory_system] +is_a: DOID:0060085 ! organ system benign neoplasm + +[Term] +id: DOID:0050622 +name: reproductive organ benign neoplasm +def: "An organ system benign neoplasm that is located_in reproductive system organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system] +is_a: DOID:0060085 ! organ system benign neoplasm + +[Term] +id: DOID:0050623 +name: bladder benign neoplasm +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:0050624 +name: gastrointestinal system benign neoplasm +def: "An organ system benign neoplasm located_in gastrointestinal tract organs." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] +is_a: DOID:0060085 ! organ system benign neoplasm + +[Term] +id: DOID:0050625 +name: biliary tract neoplasm +alt_id: DOID:4609 +def: "A hepatobiliary benign neoplasm located_in the biliary tract." [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract] +synonym: "extrahepatic bile duct neoplasm" EXACT [] +synonym: "neoplasm of extrahepatic bile ducts (disorder)" EXACT [SNOMEDCT_2005_07_31:126855001] +synonym: "tumor of the extrahepatic bile duct" EXACT [NCI2004_11_17:C4441] +xref: NCI:C4441 +xref: SNOMEDCT_US_2015_03_01:126855001 +xref: UMLS_CUI:C0345913 +is_a: DOID:3117 ! hepatobiliary benign neoplasm + +[Term] +id: DOID:0050626 +name: gastrointestinal neuroendocrine tumor +def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells." [url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] +subset: DO_cancer_slim +synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT [] +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:0050628 +name: advanced sleep phase syndrome +def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning." [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial advanced sleep-phase syndrome" EXACT [] +xref: OMIM:604348 +xref: OMIM:615224 +xref: ORDO:164736 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:0050629 +name: Aicardi-Goutieres syndrome +def: "An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections." [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Cree encephalitis" EXACT [] +xref: ICD10CM:G31.8 +xref: OMIM:225750 +xref: OMIM:610181 +xref: OMIM:610329 +xref: OMIM:610333 +xref: OMIM:612952 +xref: OMIM:615010 +xref: OMIM:615846 +xref: ORDO:51 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050630 +name: Aland Island eye disease +synonym: "Forsius-Eriksson syndrome" EXACT [] +synonym: "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM" EXACT [] +xref: OMIM:300600 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:0050631 +name: Allan-Herndon-Dudley syndrome +def: "An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement." [url:http\://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, url:http\://omim.org/entry/300523] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ALLAN-HERNDON SYNDROME" EXACT [] +xref: OMIM:300523 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:0050632 +name: oculocutaneous albinism +def: "An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes." [url:en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:E70.3 +xref: OMIM:203100 +xref: OMIM:203200 +xref: OMIM:203290 +xref: OMIM:606574 +xref: OMIM:606952 +xref: OMIM:614473 +xref: OMIM:615079 +xref: OMIM:615312 +xref: ORDO:55 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050633 +name: ocular albinism +xref: OMIM:300500 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:0050634 +name: alopecia universalis +synonym: "ALOPECIA UNIVERSALIS CONGENITA" EXACT [] +xref: OMIM:203655 +is_a: DOID:987 ! alopecia + +[Term] +id: DOID:0050635 +name: alternating hemiplegia of childhood +def: "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body." [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "AHC" EXACT [] +xref: ICD10CM:G98 +xref: OMIM:104290 +xref: OMIM:614820 +xref: ORDO:2131 +is_a: DOID:10969 ! hemiplegia + +[Term] +id: DOID:0050636 +name: familial visceral amyloidosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "AMYLOIDOSIS, FAMILIAL RENAL" EXACT [] +synonym: "German type amyloidosis" EXACT [] +synonym: "OSTERTAG TYPE AMYLOIDOSIS" EXACT [] +synonym: "systemic nonneuropathic amyloidosis" EXACT [] +xref: OMIM:105200 +is_a: DOID:9120 ! amyloidosis + +[Term] +id: DOID:0050637 +name: Finnish type amyloidosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "AMYLOIDOSIS, MERETOJA TYPE" EXACT [] +xref: OMIM:105120 +is_a: DOID:9120 ! amyloidosis + +[Term] +id: DOID:0050638 +name: transthyretin amyloidosis +def: "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene." [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=19372706, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Amyloidosis, hereditary, transthyretin-related" EXACT [] +synonym: "Corino de Andrade's disease" EXACT [] +synonym: "familial amyloid polyneuropathy" EXACT [] +synonym: "Familial transthyretin amyloidosis" EXACT [] +synonym: "transthyretin-related hereditary amyloidosis" EXACT [] +synonym: "TTR amyloidosis" EXACT [] +xref: OMIM:105210 +is_a: DOID:9120 ! amyloidosis + +[Term] +id: DOID:0050639 +name: primary cutaneous amyloidosis +def: "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19663869] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "familial primary localized cutaneous amyloidosis" EXACT [] +synonym: "PCA" EXACT [] +xref: OMIM:105250 +xref: OMIM:613955 +xref: ORDO:137807 +is_a: DOID:9120 ! amyloidosis + +[Term] +id: DOID:0050640 +name: anauxetic dysplasia +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:607095 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia + +[Term] +id: DOID:0050641 +name: Rh deficiency syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:268150 +is_a: DOID:583 ! hemolytic anemia + +[Term] +id: DOID:0050642 +name: hypochromic microcytic anemia +def: "A microcytic anemia characterized by paler than normal blood cells." [url:http\://en.wikipedia.org/wiki/Hypochromic_anemia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: OMIM:206100 +xref: OMIM:615234 +is_a: DOID:11252 ! microcytic anemia + +[Term] +id: DOID:0050643 +name: anonychia congenita +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HYPONYCHIA CONGENITA" EXACT [] +xref: OMIM:206800 +is_a: DOID:4123 ! nail disease + +[Term] +id: DOID:0050644 +name: arterial calcification of infancy +def: "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "generalized arterial calcification of infancy" EXACT [] +synonym: "idiopathic infantile arterial calcification" EXACT [] +synonym: "infantile arteriosclerosis" EXACT [] +xref: OMIM:208000 +xref: OMIM:614473 +xref: ORDO:51608 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:0050645 +name: arterial tortuosity syndrome +def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta." [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:208050 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:0050646 +name: distal arthrogryposis +def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [url:http\://en.wikipedia.org/wiki/Arthrogryposis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Arthrogryposis Multiplex Congenita" EXACT [] +synonym: "Freeman-Sheldon syndrome" EXACT [] +synonym: "Freeman-Sheldon syndrome variant" EXACT [] +synonym: "Sheldon-Hall syndrome" EXACT [] +xref: OMIM:108120 +xref: OMIM:108145 +xref: OMIM:108200 +xref: OMIM:114300 +xref: OMIM:121050 +xref: OMIM:121070 +xref: OMIM:158300 +xref: OMIM:178110 +xref: OMIM:187370 +xref: OMIM:193700 +xref: OMIM:601680 +xref: OMIM:609128 +xref: OMIM:614335 +xref: OMIM:615065 +xref: ORDO:1147 +xref: ORDO:97120 +is_a: DOID:66 ! muscle tissue disease + +[Term] +id: DOID:0050647 +name: Arts syndrome +def: "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene." [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301738, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Lethal ataxia with deafness and optic atrophy" EXACT [] +xref: OMIM:301835 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:0050648 +name: atelosteogenesis +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:108720 +xref: OMIM:108721 +xref: OMIM:256050 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0050649 +name: atransferrinemia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hypotransferrinemia" EXACT [] +xref: OMIM:209300 +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:0050650 +name: familial atrial fibrillation +def: "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "ATFB" EXACT [] +xref: OMIM:607554 +xref: OMIM:608583 +xref: OMIM:608988 +xref: OMIM:611493 +xref: OMIM:611494 +xref: OMIM:612201 +xref: OMIM:612240 +xref: OMIM:613055 +xref: OMIM:613980 +xref: OMIM:614022 +xref: OMIM:614049 +xref: OMIM:614050 +xref: OMIM:615377 +xref: OMIM:615378 +xref: OMIM:615770 +xref: ORDO:334 +is_a: DOID:0060224 ! atrial fibrillation + +[Term] +id: DOID:0050651 +name: atrioventricular septal defect +def: "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "atrioventricular canal defect" EXACT [] +synonym: "AVCD" EXACT [] +synonym: "AVSD" EXACT [] +synonym: "ECD" EXACT [] +synonym: "endocardial cushion defect" EXACT [] +xref: ICD10CM:Q21.2 +xref: ICD9CM:745.6 +xref: ICD9CM:745.60 +xref: MSH:D004694 +xref: OMIM:600309 +xref: OMIM:606215 +xref: OMIM:606217 +xref: OMIM:614430 +xref: OMIM:614474 +xref: ORDO:98722 +xref: SNOMEDCT_US_2015_03_01:15459006 +xref: SNOMEDCT_US_2015_03_01:204322008 +xref: SNOMEDCT_US_2015_03_01:204323003 +xref: SNOMEDCT_US_2015_03_01:204326006 +xref: SNOMEDCT_US_2015_03_01:204331008 +xref: UMLS_CUI:C0014116 +is_a: DOID:1681 ! heart septal defect + +[Term] +id: DOID:0050652 +name: soft tissue cancer +is_obsolete: true + +[Term] +id: DOID:0050653 +name: dysplastic nevus +synonym: "nevus of Clark" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0050654 +name: Baller-Gerold syndrome +def: "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone." [url:http\://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome, url:http\://ghr.nlm.nih.gov/condition/baller-gerold-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1204/] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C536788 +xref: OMIM:218600 +xref: ORDO:1223 +xref: SNOMEDCT_US_2015_03_01:77608001 +xref: UMLS_CUI:C0265308 +is_a: DOID:11971 ! synostosis + +[Term] +id: DOID:0050655 +name: Bamforth-Lazarus syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE" EXACT [] +xref: OMIM:241850 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:0050656 +name: pseudo-TORCH syndrome +comment: No OMIM mapping, confirmed by DO. [SN]. +synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [] +xref: OMIM:251290 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050657 +name: Bannayan-Riley-Ruvalcaba syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "BANNAYAN-ZONANA SYNDROME" EXACT [] +synonym: "RILEY-SMITH SYNDROME" EXACT [] +synonym: "RUVALCABA-MYHRE-SMITH SYNDROME" EXACT [] +xref: OMIM:153480 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050658 +name: Bart-Pumphrey syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS" EXACT [] +xref: OMIM:149200 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050659 +name: biotin-responsive basal ganglia disease +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:607483 +is_a: DOID:679 ! basal ganglia disease + +[Term] +id: DOID:0050660 +name: Beare-Stevenson cutis gyrata syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:123790 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050661 +name: vitelliform macular dystrophy +def: "A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula." [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Best disease" EXACT [] +synonym: "Best macular dystrophy" EXACT [] +synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [] +xref: ICD10CM:H35.5 +xref: OMIM:153700 +xref: OMIM:153840 +xref: OMIM:608161 +xref: OMIM:616151 +xref: OMIM:616152 +xref: ORDO:1243 +xref: ORDO:99000 +is_a: DOID:4448 ! macular degeneration + +[Term] +id: DOID:0050662 +name: bestrophinopathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "autosomal recessive bestrophinopathy" EXACT [] +xref: OMIM:611809 +is_a: DOID:4448 ! macular degeneration + +[Term] +id: DOID:0050663 +name: Bethlem myopathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign congenital muscular dystrophy" EXACT [] +xref: OMIM:158810 +is_a: DOID:0050557 ! congenital muscular dystrophy + +[Term] +id: DOID:0050664 +name: Bietti crystalline corneoretinal dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Bietti's crystalline dystrophy " EXACT [] +xref: OMIM:210370 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:0050665 +name: fetal alcohol syndrome +def: "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_syndrome, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] +is_a: DOID:0050696 ! fetal alcohol spectrum disorder + +[Term] +id: DOID:0050666 +name: partial fetal alcohol syndrome +def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." [url:http\://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf] +is_a: DOID:0050696 ! fetal alcohol spectrum disorder + +[Term] +id: DOID:0050667 +name: alcohol-related neurodevelopmental disorder +def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf] +synonym: "ARND" EXACT [] +synonym: "static encephalopathy" EXACT [] +is_a: DOID:0050696 ! fetal alcohol spectrum disorder + +[Term] +id: DOID:0050668 +name: alcohol-related birth defect +def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure." [url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] +synonym: "ARBD" EXACT [] +is_a: DOID:0050696 ! fetal alcohol spectrum disorder + +[Term] +id: DOID:0050669 +name: spastic cerebral palsy +def: "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements." [url:http\://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html, url:http\://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html] +is_a: DOID:1969 ! cerebral palsy + +[Term] +id: DOID:0050670 +name: ataxic cerebral palsy +def: "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic, url:http\://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html] +synonym: "hypotonic cerebral palsy" EXACT [] +is_a: DOID:1969 ! cerebral palsy + +[Term] +id: DOID:0050671 +name: female breast cancer +is_a: DOID:1612 ! breast cancer +created_by: snadendla +creation_date: 2011-06-15T02:48:20Z + +[Term] +id: DOID:0050672 +name: dyskinetic cerebral palsy +def: "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] +synonym: "Athetoid Dyskinetic Cerebral Palsy" EXACT [] +is_a: DOID:1969 ! cerebral palsy + +[Term] +id: DOID:0050673 +name: mixed cerebral palsy +def: "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing." [url:http\://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy, url:http\://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html] +is_a: DOID:1969 ! cerebral palsy + +[Term] +id: DOID:0050674 +name: congenital bile acid synthesis defect +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT [] +synonym: "CBA" EXACT [] +synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT [] +xref: ICD10CM:K76.8 +xref: OMIM:214950 +xref: OMIM:235555 +xref: OMIM:607765 +xref: OMIM:613812 +xref: ORDO:79095 +xref: ORDO:79301 +xref: ORDO:79302 +xref: ORDO:79303 +is_a: DOID:1701 ! steroid inherited metabolic disorder + +[Term] +id: DOID:0050675 +name: Birk-Barel syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME" EXACT [] +xref: OMIM:612292 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050676 +name: Birt-Hogg-Dube syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:135150 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050677 +name: Bjornstad syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:262000 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050678 +name: Blau syndrome +def: "An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations." [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ARTHROCUTANEOUVEAL GRANULOMATOSIS" EXACT [] +synonym: "Jabs syndrome" EXACT [] +xref: NCI:C116794 +xref: OMIM:186580 +xref: SNOMEDCT:699861000 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0050679 +name: blue cone monochromacy +def: "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance." [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:303700 +is_a: DOID:13911 ! achromatopsia + +[Term] +id: DOID:0050680 +name: Boomerang dysplasia +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:112310 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0050681 +name: Borjeson-Forssman-Lehmann syndrome +def: "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene." [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "BORJESON SYNDROME" EXACT [] +xref: MSH:C536575 +xref: OMIM:301900 +xref: SNOMEDCT_US_2015_03_01:21634003 +xref: UMLS_CUI:C0265339 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:0050682 +name: Athabaskan brainstem dysgenesis syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "NAVAJO BRAINSTEM SYNDROME" EXACT [] +xref: OMIM:601536 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050683 +name: Bothnia retinal dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Vasterbotten dystrophy" EXACT [] +xref: OMIM:607475 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:0050684 +name: Bowen-Conradi syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:211180 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:0050685 +name: small cell carcinoma +alt_id: DOID:7137 +def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma] +synonym: "intermediate cell small cell carcinoma" EXACT [] +synonym: "Small cell carcinoma - intermediate cell" EXACT [SNOMEDCT_2005_07_31:189557009] +synonym: "Small cell carcinoma, intermediate cell (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5958006] +xref: NCI:C4099 +xref: SNOMEDCT_US_2015_03_01:189557009 +xref: SNOMEDCT_US_2015_03_01:5958006 +xref: UMLS_CUI:C0334239 +is_a: DOID:305 ! carcinoma +created_by: snadendla +creation_date: 2011-06-13T01:25:14Z + +[Term] +id: DOID:0050686 +name: organ system cancer +def: "A cancer that is classified based on the organ it starts in." [url:http\://cancerguide.org/basic.html] +is_a: DOID:162 ! cancer +created_by: snadendla +creation_date: 2011-06-13T03:28:33Z + +[Term] +id: DOID:0050687 +name: cell type cancer +def: "A cancer that is classified by the type of cell from which it is derived." [url:http\://cancerguide.org/basic.html, url:http\://en.wikipedia.org/wiki/Cancer] +is_a: DOID:162 ! cancer +created_by: snadendla +creation_date: 2011-06-13T03:28:50Z + +[Term] +id: DOID:0050688 +name: anal canal cancer +def: "A large intestine cancer that is located_in the terminal part of the large intestine." [url:http\://en.wikipedia.org/wiki/Anal_canal] +is_a: DOID:5672 ! large intestine cancer +created_by: snadendla +creation_date: 2011-06-14T01:34:36Z + +[Term] +id: DOID:0050689 +name: brachydactyly-syndactyly syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:610713 +is_a: DOID:0050739 ! autosomal genetic disease +created_by: snadendla +creation_date: 2011-06-17T03:55:47Z + +[Term] +id: DOID:0050690 +name: brachyolmia +def: "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature." [url:http\://www.ncbi.nlm.nih.gov/pubmed/10968486] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "brachyrachia" EXACT [] +xref: OMIM:113500 +xref: OMIM:271530 +xref: OMIM:271630 +xref: OMIM:613678 +xref: ORDO:1293 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: snadendla +creation_date: 2011-06-17T04:00:27Z + +[Term] +id: DOID:0050691 +name: branchiooculofacial syndrome +def: "An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts." [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:113620 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: snadendla +creation_date: 2011-06-17T04:10:18Z + +[Term] +id: DOID:0050692 +name: Brody myopathy +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:601003 +is_a: DOID:440 ! neuromuscular disease +created_by: snadendla +creation_date: 2011-06-17T04:30:49Z + +[Term] +id: DOID:0050693 +name: Brooke-Spiegler syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:605041 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: snadendla +creation_date: 2011-06-17T04:34:10Z + +[Term] +id: DOID:0050694 +name: Brown-Vialetto-Van Laere syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:211530 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: snadendla +creation_date: 2011-06-17T04:38:07Z + +[Term] +id: DOID:0050695 +name: malignant pleural solitary fibrous tumor +is_a: DOID:5158 ! pleural cancer +created_by: snadendla +creation_date: 2011-06-27T09:57:44Z + +[Term] +id: DOID:0050696 +name: fetal alcohol spectrum disorder +def: "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] +is_a: DOID:0060038 ! specific developmental disorder +created_by: lschriml +creation_date: 2011-12-01T01:01:25Z + +[Term] +id: DOID:0050697 +name: chorioamnionitis +def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection." [url:http\://en.wikipedia.org/wiki/Chorioamnionitis, url:http\://www.merriam-webster.com/medlineplus/Chorioamnionitis] +is_a: DOID:780 ! placenta disease +created_by: lschriml +creation_date: 2012-01-03T01:13:08Z + +[Term] +id: DOID:0050698 +name: funisitis +def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord." [url:http\://en.wikipedia.org/wiki/Funisitis] +is_a: DOID:65 ! connective tissue disease +created_by: lschriml +creation_date: 2012-01-03T01:18:35Z + +[Term] +id: DOID:0050699 +name: Dent disease +def: "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene." [url:http\://en.wikipedia.org/wiki/Dent%27s_disease, url:http\://ghr.nlm.nih.gov/condition/dent-disease, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652] +synonym: "Dent disease 1" EXACT [] +synonym: "Dent disease 2" EXACT [] +synonym: "Dent's disease" EXACT [] +xref: MSH:C538212 +xref: MSH:C564487 +xref: MSH:D057973 +xref: OMIM:300009 +xref: OMIM:300555 +xref: ORDO:1652 +xref: SNOMEDCT_US_2015_03_01:444645005 +xref: UMLS_CUI:C0878681 +xref: UMLS_CUI:C1845167 +xref: UMLS_CUI:C1848336 +is_a: DOID:447 ! renal tubular transport disease +created_by: lschriml +creation_date: 2015-03-12T14:32:47Z + +[Term] +id: DOID:0050700 +name: cardiomyopathy +def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] +comment: MSH:D009202 added from NeuroDevNet [WAK]. +synonym: "Cardiomyopathies" EXACT [MSH:D009202] +xref: ICD10CM:I42 +xref: ICD10CM:I42.9 +xref: ICD10CM:I51.5 +xref: ICD9CM:425 +xref: ICD9CM:425.9 +xref: MSH:D009202 +xref: NCI:C34830 +xref: NCI:C53654 +xref: SNOMEDCT_US_2015_03_01:155351008 +xref: SNOMEDCT_US_2015_03_01:155353006 +xref: SNOMEDCT_US_2015_03_01:195035002 +xref: SNOMEDCT_US_2015_03_01:195037005 +xref: SNOMEDCT_US_2015_03_01:20072003 +xref: SNOMEDCT_US_2015_03_01:266244008 +xref: SNOMEDCT_US_2015_03_01:266301006 +xref: SNOMEDCT_US_2015_03_01:57809008 +xref: SNOMEDCT_US_2015_03_01:85898001 +xref: SNOMEDCT_US_2015_03_01:89461002 +xref: SNOMEDCT_US_2015_03_01:89600009 +xref: UMLS_CUI:C0033141 +xref: UMLS_CUI:C0036529 +xref: UMLS_CUI:C0878544 +is_a: DOID:114 ! heart disease +created_by: lschriml +creation_date: 2012-01-03T02:54:11Z + +[Term] +id: DOID:0050701 +name: electroclinical syndrome +def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [url:http\://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795] +synonym: "electro-clinical syndrome" EXACT [] +is_a: DOID:1826 ! epilepsy syndrome +created_by: lschriml +creation_date: 2012-04-11T11:42:46Z + +[Term] +id: DOID:0050702 +name: neonatal period electroclinical syndrome +def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795, url:http\://www.ncbi.nlm.nih.gov/pubmed/22182677] +is_a: DOID:0050701 ! electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T11:48:18Z + +[Term] +id: DOID:0050703 +name: infancy electroclinical syndrome +def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795] +is_a: DOID:0050701 ! electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T11:48:18Z + +[Term] +id: DOID:0050704 +name: childhood electroclinical syndrome +def: "An electroclinical syndrome with onset in childhood between one and 12 years of age." [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795] +is_a: DOID:0050701 ! electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T11:48:18Z + +[Term] +id: DOID:0050705 +name: adolescence-adult electroclinical syndrome +def: "An electroclinical syndrome with onset in adolescence and adulthood." [JA:Epilepsy_Genetics_Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795] +is_a: DOID:0050701 ! electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T11:48:18Z + +[Term] +id: DOID:0050706 +name: variable age at onset electroclinical syndrome +is_a: DOID:0050701 ! electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T11:48:18Z + +[Term] +id: DOID:0050707 +name: nonsyndromic epilepsy +is_obsolete: true +created_by: lschriml +creation_date: 2012-04-11T01:42:13Z + +[Term] +id: DOID:0050708 +name: early onset absence epilepsy +def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] +is_a: DOID:0050704 ! childhood electroclinical syndrome +created_by: lschriml +creation_date: 2012-04-11T02:29:04Z + +[Term] +id: DOID:0050709 +name: Ohtahara syndrome +def: "A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures." [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm] +synonym: "Early Infantile Epileptic Encephalopathy " EXACT [] +synonym: "Early Infantile Epileptic Encephalopathy with Burst-Suppression" EXACT [] +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15" EXACT [] +xref: OMIM:300088 +xref: OMIM:300607 +xref: OMIM:300672 +xref: OMIM:308350 +xref: OMIM:609304 +xref: OMIM:612164 +xref: OMIM:613402 +xref: OMIM:613477 +xref: OMIM:613720 +xref: OMIM:613721 +xref: OMIM:613722 +xref: OMIM:614558 +xref: OMIM:614959 +xref: OMIM:615006 +xref: OMIM:615338 +xref: OMIM:615473 +xref: OMIM:615476 +is_a: DOID:0050702 ! neonatal period electroclinical syndrome +created_by: lschriml +creation_date: 2012-05-10T10:02:58Z + +[Term] +id: DOID:0050710 +name: 3-Methylcrotonyl-CoA carboxylase deficiency +def: "An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy." [url:http\://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, url:http\://omim.org/entry/210200] +synonym: "3-Methylcrotonylglycinuria" EXACT [] +synonym: "3MCC deficiency" EXACT [] +synonym: "BMCC deficiency" EXACT [] +xref: OMIM:210200 +xref: OMIM:210210 +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2012-05-22T10:32:44Z + +[Term] +id: DOID:0050711 +name: aceruloplasminemia +def: "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus." [url:http\://en.wikipedia.org/wiki/Aceruloplasminemia, url:http\://omim.org/entry/604290?search=604290&highlight=604290] +xref: OMIM:604290 +is_a: DOID:2351 ! iron metabolism disease +created_by: lschriml +creation_date: 2012-05-22T11:47:25Z + +[Term] +id: DOID:0050712 +name: AGAT deficiency +def: "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis." [url:http\://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency, url:http\://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat] +synonym: "arginine:glycine amidinotransferase deficiency" EXACT [] +synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 3" EXACT [] +xref: OMIM:612718 +is_a: DOID:0050798 ! cerebral creatine deficiency syndrome +created_by: lschriml +creation_date: 2012-05-22T11:53:57Z + +[Term] +id: DOID:0050713 +name: fatal infantile encephalocardiomyopathy +def: "A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase." [url:http\://omim.org/entry/604377] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [] +synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [] +synonym: "fatal infantile COX deficiency" EXACT [] +xref: OMIM:604377 +xref: OMIM:615119 +xref: ORDO:1561 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: lschriml +creation_date: 2012-05-22T01:03:41Z + +[Term] +id: DOID:0050715 +name: methylmalonic aciduria and homocystinuria type cblC +def: "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase." [url:http\://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22] +synonym: "Cobalamin C deficiency" EXACT [] +xref: OMIM:277400 +is_a: DOID:14749 ! methylmalonic acidemia +created_by: lschriml +creation_date: 2012-05-23T03:26:25Z + +[Term] +id: DOID:0050716 +name: methylmalonic aciduria and homocystinuria type cblD +def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities." [url:http\://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/18385497] +synonym: "Cobalamin D deficiency" EXACT [] +xref: OMIM:277410 +is_a: DOID:14749 ! methylmalonic acidemia +created_by: lschriml +creation_date: 2012-05-23T03:26:25Z + +[Term] +id: DOID:0050717 +name: methylmalonic aciduria and homocystinuria type cblF +def: "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)." [url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CFMQFjAB&url=http%3A%2F%2Fpreventiongenetics.com%2FClinicalTesting%2FTestDescriptions%2FLMBRD1.pdf&ei=hzv3T__xH4qk6wGIlqn2Bg&usg=AFQjCNEq6PEmU_PvWZSYQVIf2Uhf7Qxp7w&sig2=Ed-CTWsLgGVSkht-OW43gA] +synonym: "Cobalamin F deficiency" EXACT [] +xref: OMIM:277380 +is_a: DOID:14749 ! methylmalonic acidemia +created_by: lschriml +creation_date: 2012-05-23T03:26:25Z + +[Term] +id: DOID:0050718 +name: vitamin metabolic disorder +def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism] +is_a: DOID:655 ! inherited metabolic disorder +created_by: lschriml +creation_date: 2012-06-11T02:44:53Z + +[Term] +id: DOID:0050719 +name: cerebral folate receptor alpha deficiency +def: "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy." [url:http\://en.wikipedia.org/wiki/B_vitamins, url:http\://www.ncbi.nlm.nih.gov/pubmed/19732866] +is_a: DOID:0050718 ! vitamin metabolic disorder +created_by: lschriml +creation_date: 2012-06-11T02:58:59Z + +[Term] +id: DOID:0050720 +name: ornithine translocase deficiency +def: "An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood." [url:http\://en.wikipedia.org/wiki/Ornithine_translocase_deficiency, url:http\://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx] +synonym: "HHH syndrome" EXACT [] +synonym: "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome" EXACT [] +xref: OMIM:238970 +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050721 +name: serine deficiency +def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15021249] +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050722 +name: PHGDH deficiency +def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis." [url:http\://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, url:http\://www.ncbi.nlm.nih.gov/pubmed?term=18296366, url:http\://www.omim.org/entry/601815] +synonym: "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY" EXACT [] +xref: OMIM:601815 +is_a: DOID:0050721 ! serine deficiency +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050723 +name: PSAT deficiency +def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, url:http\://www.omim.org/entry/610992?search=610992&highlight=610992, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417] +synonym: "Phosphoserine aminotransferase deficiency" EXACT [] +xref: OMIM:610992 +is_a: DOID:0050721 ! serine deficiency +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050724 +name: PSPH deficiency +def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine." [url:http\://en.wikipedia.org/wiki/PSPH, url:http\://www.omim.org/entry/614023, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350] +synonym: "Phosphoserine phosphatase deficiency" EXACT [] +synonym: "PSPHD" EXACT [] +xref: OMIM:614023 +is_a: DOID:0050721 ! serine deficiency +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050725 +name: tyrosinemia type II +def: "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels." [url:http\://en.wikipedia.org/wiki/Tyrosinemia_type_II, url:http\://www.omim.org/entry/276600?search=276600&highlight=276600] +synonym: "Oculocutaneous tyrosinemia" EXACT [] +synonym: "Richner-Hanhart syndrome" EXACT [] +xref: OMIM:276600 +is_a: DOID:9275 ! tyrosinemia +created_by: lschriml +creation_date: 2012-06-13T03:09:31Z + +[Term] +id: DOID:0050726 +name: tyrosinemia type I +def: "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body." [url:http\://en.wikipedia.org/wiki/Type_I_tyrosinemia] +synonym: "hepatorenal tyrosinemia" EXACT [] +xref: OMIM:276700 +is_a: DOID:9275 ! tyrosinemia +created_by: lschriml +creation_date: 2012-07-06T02:55:45Z + +[Term] +id: DOID:0050727 +name: tyrosinemia type III +def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine." [url:http\://en.wikipedia.org/wiki/Type_III_tyrosinemia, url:http\://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia] +xref: OMIM:276710 +is_a: DOID:9275 ! tyrosinemia +created_by: lschriml +creation_date: 2012-07-06T02:55:45Z + +[Term] +id: DOID:0050728 +name: glycogen metabolism disorder +def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism] +is_a: DOID:2978 ! carbohydrate metabolic disorder +created_by: lschriml +creation_date: 2012-07-13T10:42:54Z + +[Term] +id: DOID:0050729 +name: neutral lipid storage disease +def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues." [url:http\://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome] +synonym: "Chanarin-Dorfman syndrome" EXACT [] +xref: OMIM:275630 +is_a: DOID:9455 ! lipid storage disease +created_by: lschriml +creation_date: 2012-07-17T12:31:48Z + +[Term] +id: DOID:0050730 +name: coenzyme Q10 deficiency disease +def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis." [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity] +synonym: "COENZYME Q10 DEFICIENCY, PRIMARY" EXACT [] +xref: OMIM:607426 +xref: OMIM:612016 +xref: OMIM:614650 +xref: OMIM:614651 +xref: OMIM:614652 +xref: OMIM:614654 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: lschriml +creation_date: 2012-07-17T12:58:37Z + +[Term] +id: DOID:0050731 +name: vitamin B12 deficiency +def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12." [url:http\://en.wikipedia.org/wiki/B12_deficiency] +synonym: "cobalamin deficiency" EXACT [] +synonym: "hypocobalaminemia" EXACT [] +is_a: DOID:0050718 ! vitamin metabolic disorder +created_by: lschriml +creation_date: 2012-07-17T01:01:29Z + +[Term] +id: DOID:0050732 +name: methylmalonic aciduria and homocystinuria type cblE +is_a: DOID:14749 ! methylmalonic acidemia +created_by: lschriml +creation_date: 2012-07-17T01:42:35Z + +[Term] +id: DOID:0050733 +name: methylmalonic aciduria and homocystinuria type cblG +is_a: DOID:14749 ! methylmalonic acidemia +created_by: lschriml +creation_date: 2012-07-17T01:42:35Z + +[Term] +id: DOID:0050734 +name: congenital intrinsic factor deficiency +def: "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption." [url:http\://omim.org/entry/261000?search=261000&highlight=261000, url:http\://www.ncbi.nlm.nih.gov/pubmed/14695536, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332] +synonym: "hereditary intrinsic factor deficiency" EXACT [] +xref: OMIM:261000 +is_a: DOID:0050731 ! vitamin B12 deficiency +created_by: lschriml +creation_date: 2012-07-17T01:52:57Z + +[Term] +id: DOID:0050735 +name: X-linked disease +def: "A monogenic disease that has_material_basis_in muations in genes on the X chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] +is_a: DOID:0050177 ! monogenic disease +created_by: lschriml +creation_date: 2012-07-24T12:47:31Z + +[Term] +id: DOID:0050736 +name: autosomal dominant disease +def: "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002049.htm] +is_a: DOID:0050739 ! autosomal genetic disease +created_by: lschriml +creation_date: 2012-07-24T12:51:47Z + +[Term] +id: DOID:0050737 +name: autosomal recessive disease +def: "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop." [url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002052.htm] +is_a: DOID:0050739 ! autosomal genetic disease +created_by: lschriml +creation_date: 2012-07-24T12:51:47Z + +[Term] +id: DOID:0050738 +name: Y-linked disease +def: "A monogenic disease that has_material_basis_in muations on the Y chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#Y-linked] +is_a: DOID:0050177 ! monogenic disease +created_by: lschriml +creation_date: 2012-07-24T12:51:47Z + +[Term] +id: DOID:0050739 +name: autosomal genetic disease +def: "A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] +is_a: DOID:0050177 ! monogenic disease +created_by: lschriml +creation_date: 2012-07-24T04:45:53Z + +[Term] +id: DOID:0050740 +name: Qazi Markouizos syndrome +def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation." [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010] +synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT [] +synonym: "Qazi-Markouizos syndrome" EXACT [] +xref: OMIM:600096 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2012-08-10T01:08:47Z + +[Term] +id: DOID:0050741 +name: alcohol dependence +synonym: "alcoholism" EXACT [] +xref: EFO:0003829 +xref: KEGG:05034 +xref: MSH:D010610 +xref: NCI:C3325 +xref: OMIM:103780 +xref: SNOMEDCT_US_2015_03_01:126685009 +xref: SNOMEDCT_US_2015_03_01:95001001 +xref: UMLS_CUI:C0031347 +is_a: DOID:9973 ! substance dependence +created_by: lschriml +creation_date: 2012-09-05T11:48:42Z + +[Term] +id: DOID:0050742 +name: nicotine dependence +synonym: "tobacco use disorder" EXACT [NSH:D014029] +xref: EFO:0003768 +xref: ICD10CM:F17 +xref: ICD10CM:F17.2 +xref: ICD10CM:F17.20 +xref: MSH:D014029 +xref: NCI:C54203 +xref: OMIM:188890 +xref: SNOMEDCT_US_2015_03_01:56294008 +xref: UMLS_CUI:C0028043 +is_a: DOID:9973 ! substance dependence +created_by: lschriml +creation_date: 2012-09-05T11:48:42Z + +[Term] +id: DOID:0050743 +name: mature T-cell and NK-cell lymphoma +def: "A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells." [url:http\://www.cancer.gov/dictionary?CdrID=393800, url:http\://www.cancer.gov/dictionary?CdrID=44062, url:http\://www.ncbi.nlm.nih.gov/pubmed/21919697] +subset: DO_cancer_slim +synonym: "mature T-cell and natural killer cell lymphoma" EXACT [] +synonym: "NK-T cell lymphoma" EXACT [] +is_a: DOID:0060060 ! non-Hodgkin lymphoma +created_by: lschriml +creation_date: 2012-09-18T01:56:52Z + +[Term] +id: DOID:0050744 +name: anaplastic large cell lymphoma +def: "A non-Hodgkin lymphoma involving aberrant T-cells." [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology] +is_a: DOID:0060060 ! non-Hodgkin lymphoma +created_by: lschriml +creation_date: 2012-09-18T01:57:40Z + +[Term] +id: DOID:0050745 +name: diffuse large B-cell lymphoma +def: "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body." [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma] +subset: DO_cancer_slim +is_a: DOID:707 ! B-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T01:58:25Z + +[Term] +id: DOID:0050746 +name: mantle cell lymphoma +def: "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles." [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma] +is_a: DOID:707 ! B-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T02:00:45Z + +[Term] +id: DOID:0050747 +name: lymphoplasmacytic lymphoma +def: "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells." [url:http\://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Waldenström's macroglobulinemia " EXACT [] +xref: ICD10CM:C88.0 +xref: ICD9CM:273.3 +xref: MSH:D008258 +xref: NCI:C80307 +xref: OMIM:153600 +xref: OMIM:610430 +xref: ORDO:33226 +xref: SNOMEDCT_US_2015_03_01:109981009 +xref: SNOMEDCT_US_2015_03_01:154750002 +xref: SNOMEDCT_US_2015_03_01:190014001 +xref: SNOMEDCT_US_2015_03_01:190817009 +xref: SNOMEDCT_US_2015_03_01:190818004 +xref: SNOMEDCT_US_2015_03_01:190821002 +xref: SNOMEDCT_US_2015_03_01:267503004 +xref: SNOMEDCT_US_2015_03_01:35562000 +xref: UMLS_CUI:C0024419 +xref: UMLS_CUI:C2936755 +is_a: DOID:707 ! B-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T02:00:45Z + +[Term] +id: DOID:0050748 +name: marginal zone B-cell lymphoma +def: "A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue." [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554] +subset: DO_cancer_slim +synonym: "marginal zone lymphoma" EXACT [] +is_a: DOID:707 ! B-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T02:00:45Z + +[Term] +id: DOID:0050749 +name: peripheral T-cell lymphoma +def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus." [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma] +subset: DO_cancer_slim +is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T02:01:49Z + +[Term] +id: DOID:0050750 +name: splenic marginal zone lymphoma +def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp." [url:http\://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma] +is_a: DOID:0050748 ! marginal zone B-cell lymphoma +created_by: lschriml +creation_date: 2012-09-18T02:03:06Z + +[Term] +id: DOID:0050751 +name: T-cell large granular lymphocyte leukemia +def: "A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood." [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia] +synonym: "Large granular lymphocytic leukemia" EXACT [] +is_a: DOID:1040 ! chronic lymphocytic leukemia +created_by: lschriml +creation_date: 2012-09-18T02:05:41Z + +[Term] +id: DOID:0050752 +name: amyotrophic lateral sclerosis type 8 +def: "A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20." [url:http\://omim.org/entry/608627, utl:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] +synonym: "ALS8" EXACT [OMIM:608627] +synonym: "amyotrophic lateral sclerosis 8" EXACT [OMIM:608627] +xref: OMIM:608627 +is_a: DOID:332 ! amyotrophic lateral sclerosis + +[Term] +id: DOID:0050753 +name: cerebellar ataxia +def: "A cerebellar disease characterized by ataxia originating in the cerebellum." [url:http\://en.wikipedia.org/wiki/Cerebellar_ataxia] +is_a: DOID:2786 ! cerebellar disease +created_by: lschriml +creation_date: 2013-01-16T01:07:02Z + +[Term] +id: DOID:0050754 +name: ataxia with oculomotor apraxia type 1 +xref: OMIM:208920 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2013-01-16T01:07:02Z + +[Term] +id: DOID:0050755 +name: ataxia with oculomotor apraxia type 2 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2013-01-16T01:07:02Z + +[Term] +id: DOID:0050756 +name: Batten disease +synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [] +is_a: DOID:14503 ! neuronal ceroid lipofuscinosis +created_by: lschriml +creation_date: 2013-01-16T01:15:03Z + +[Term] +id: DOID:0050757 +name: deafness dystonia syndrome +def: "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems." [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/] +synonym: "Deafness Dystonia Optic Atrophy Syndrome" EXACT [] +synonym: "Deafness Dystonia Optic Neuronopathy Syndrome (DDON)" EXACT [] +synonym: "Dystonia Deafness Syndrome" EXACT [] +synonym: "Mohr-Tranebjaerg Syndrome" EXACT [] +xref: OMIM:304700 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: lschriml +creation_date: 2013-01-16T01:20:50Z + +[Term] +id: DOID:0050758 +name: metabolic acidosis +def: "A lactic acidosis that has_material_basis_in high levels of acid." [url:http\://en.wikipedia.org/wiki/Metabolic_acidosis] +is_a: DOID:3650 ! lactic acidosis +created_by: lschriml +creation_date: 2013-01-16T01:23:37Z + +[Term] +id: DOID:0050759 +name: myotonic dystrophy type 2 +def: "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one." [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/602668, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple] +synonym: "proximal myotonic myopathy" EXACT [] +xref: ICD10CM:G71.1 +xref: ICD10CM:G71.19 +xref: ICD9CM:359.2 +xref: MSH:C538616 +xref: MSH:D020967 +xref: NCI:C84913 +xref: OMIM:602668 +xref: SNOMEDCT_US_2015_03_01:155096007 +xref: SNOMEDCT_US_2015_03_01:193237003 +xref: SNOMEDCT_US_2015_03_01:193240003 +xref: SNOMEDCT_US_2015_03_01:267713009 +xref: SNOMEDCT_US_2015_03_01:41574007 +xref: UMLS_CUI:C0221055 +xref: UMLS_CUI:C0553604 +xref: UMLS_CUI:C0752355 +is_a: DOID:450 ! myotonic disease +created_by: lschriml +creation_date: 2013-01-16T01:27:31Z + +[Term] +id: DOID:0050760 +name: X-linked myopathy with excessive autophagy +synonym: "XMEA" EXACT [] +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2013-01-16T01:29:01Z + +[Term] +id: DOID:0050761 +name: paramyloidosis +is_a: DOID:9120 ! amyloidosis +created_by: lschriml +creation_date: 2013-01-16T01:30:21Z + +[Term] +id: DOID:0050762 +name: adenylosuccinase lyase deficiency +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2013-01-17T12:42:58Z + +[Term] +id: DOID:0050763 +name: ARC syndrome +def: "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene." [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:http\://omim.org/entry/208085, url:http\://omim.org/entry/613404, url:http\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:http\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:http\://www.ncbi.nlm.nih.gov/pubmed/24415890, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697] +synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [] +synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS" EXACT [] +synonym: "Arthrogryposis-renal dysfunction-cholestasis" EXACT [] +xref: OMIM:208085 +xref: OMIM:613404 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2013-01-17T12:46:38Z + +[Term] +id: DOID:0050764 +name: Armfield syndrome +synonym: "Armfield X-linked mental retardation syndrome" EXACT [OMIM:300261] +synonym: "MRXSA" EXACT [OMIM:300261] +xref: OMIM:300261 +xref: ORDO:85276 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2013-01-17T12:48:15Z + +[Term] +id: DOID:0050765 +name: neuroacanthocytosis +is_a: DOID:1289 ! neurodegenerative disease +created_by: lschriml +creation_date: 2013-01-17T12:54:19Z + +[Term] +id: DOID:0050766 +name: chorea-acanthocytosis +is_a: DOID:0050765 ! neuroacanthocytosis +created_by: lschriml +creation_date: 2013-01-17T12:54:19Z + +[Term] +id: DOID:0050767 +name: midface dysplasia +is_a: DOID:2256 ! osteochondrodysplasia +created_by: lschriml +creation_date: 2013-02-21T11:19:14Z + +[Term] +id: DOID:0050768 +name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +def: "A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11." [url:http\://omim.org/entry/604273] +synonym: "MC5DN1" EXACT [] +xref: ICD10CM:E88.8 +xref: OMIM:604273 +xref: ORDO:254913 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: lschriml +creation_date: 2013-02-21T11:26:46Z + +[Term] +id: DOID:0050769 +name: N syndrome +synonym: "NSX" EXACT [OMIM:310465] +xref: OMIM:310465 +xref: Orphanet:ORPHA2608 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2013-02-21T11:32:26Z + +[Term] +id: DOID:0050770 +name: polycystic liver disease +xref: OMIM:174050 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-02-21T11:36:13Z + +[Term] +id: DOID:0050771 +name: phaeochromocytoma +xref: OMIM:171300 +is_a: DOID:0060084 ! cell type benign neoplasm +created_by: lschriml +creation_date: 2013-02-21T11:40:58Z + +[Term] +id: DOID:0050772 +name: spastic ataxia 1 +subset: DO_MGI_slim +xref: OMIM:108600 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-17T14:42:06Z + +[Term] +id: DOID:0050773 +name: paraganglioma +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "chemodectoma" EXACT [] +xref: MSH:D010235 +xref: NCI:C3308 +xref: OMIM:116310 +xref: OMIM:168000 +xref: OMIM:601650 +xref: OMIM:605373 +xref: OMIM:614165 +xref: SNOMEDCT_US_2015_03_01:127027008 +xref: SNOMEDCT_US_2015_03_01:189743009 +xref: SNOMEDCT_US_2015_03_01:253029009 +xref: SNOMEDCT_US_2015_03_01:302833002 +xref: SNOMEDCT_US_2015_03_01:72787006 +xref: SNOMEDCT_US_2015_03_01:803009 +xref: UMLS_CUI:C0030421 +is_a: DOID:169 ! neuroendocrine tumor +created_by: lschriml +creation_date: 2013-02-21T11:51:57Z + +[Term] +id: DOID:0050774 +name: rapadilino syndrome +xref: OMIM:266280 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-02-21T11:56:15Z + +[Term] +id: DOID:0050775 +name: schneckenbecken dysplasia +xref: OMIM:269250 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: lschriml +creation_date: 2013-02-21T12:00:39Z + +[Term] +id: DOID:0050776 +name: non-syndromic X-linked intellectual disability +def: "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern." [url:http\://www.ncbi.nlm.nih.gov/pubmed/7011032] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "MENTAL RETARDATION, X-LINKED 95" EXACT [] +synonym: "MRX" EXACT [] +synonym: "non-specific X-linked mental retardation" EXACT [] +xref: OMIM:300046 +xref: OMIM:300047 +xref: OMIM:300062 +xref: OMIM:300114 +xref: OMIM:300115 +xref: OMIM:300143 +xref: OMIM:300210 +xref: OMIM:300271 +xref: OMIM:300324 +xref: OMIM:300355 +xref: OMIM:300372 +xref: OMIM:300387 +xref: OMIM:300428 +xref: OMIM:300433 +xref: OMIM:300436 +xref: OMIM:300454 +xref: OMIM:300498 +xref: OMIM:300504 +xref: OMIM:300505 +xref: OMIM:300518 +xref: OMIM:300551 +xref: OMIM:300558 +xref: OMIM:300577 +xref: OMIM:300659 +xref: OMIM:300716 +xref: OMIM:300802 +xref: OMIM:300803 +xref: OMIM:300844 +xref: OMIM:300848 +xref: OMIM:300849 +xref: OMIM:300850 +xref: OMIM:300851 +xref: OMIM:300852 +xref: OMIM:300912 +xref: OMIM:300919 +xref: OMIM:300923 +xref: OMIM:309530 +xref: OMIM:309549 +xref: ORDO:777 +is_a: DOID:0050889 ! non-syndromic intellectual disability +created_by: lschriml +creation_date: 2013-02-21T12:06:40Z + +[Term] +id: DOID:0050777 +name: Joubert syndrome +def: "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "JBTS" EXACT [] +xref: OMIM:213300 +xref: OMIM:300804 +xref: OMIM:608091 +xref: OMIM:608629 +xref: OMIM:609583 +xref: OMIM:610188 +xref: OMIM:610688 +xref: OMIM:611560 +xref: OMIM:612285 +xref: OMIM:612291 +xref: OMIM:614173 +xref: OMIM:614424 +xref: OMIM:614464 +xref: OMIM:614465 +xref: OMIM:614615 +xref: OMIM:614815 +xref: OMIM:614970 +xref: OMIM:615636 +xref: OMIM:615665 +xref: OMIM:616654 +xref: ORDO:475 +is_a: DOID:0060340 ! ciliopathy +created_by: lschriml +creation_date: 2013-04-04T11:25:32Z + +[Term] +id: DOID:0050778 +name: Meckel syndrome +def: "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia." [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Meckel-Gruber syndrome" EXACT [] +xref: ICD9CM:753.1 +xref: ICD9CM:753.10 +xref: OMIM:249000 +xref: OMIM:267010 +xref: OMIM:603194 +xref: OMIM:607361 +xref: OMIM:611134 +xref: OMIM:611561 +xref: OMIM:612284 +xref: OMIM:613885 +xref: OMIM:614175 +xref: OMIM:614209 +xref: OMIM:615397 +xref: ORDO:564 +xref: SNOMEDCT_US_2015_03_01:204954005 +xref: SNOMEDCT_US_2015_03_01:204966004 +xref: SNOMEDCT_US_2015_03_01:236440007 +xref: SNOMEDCT_US_2015_03_01:82525005 +xref: UMLS_CUI:C0311245 +is_a: DOID:0060340 ! ciliopathy +created_by: lschriml +creation_date: 2013-04-04T11:28:16Z + +[Term] +id: DOID:0050779 +name: hydrolethalus syndrome +def: "An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:http\://www.ncbi.nlm.nih.gov/pubmed/15843405] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Salonen-Herva-Norio syndrome" EXACT [] +xref: ICD10CM:Q87.8 +xref: OMIM:236680 +xref: OMIM:614120 +xref: ORDO:2189 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-06-24T12:50:06Z + +[Term] +id: DOID:0050780 +name: Opitz-GBBB syndrome +def: "A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form." [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:http\://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb] +synonym: "Opitz G/BBB Syndrome" EXACT [] +xref: KEGG:H00583 +xref: OMIM:145410 +xref: OMIM:300000 +is_a: DOID:0050177 ! monogenic disease +created_by: lschriml +creation_date: 2013-06-24T01:18:03Z + +[Term] +id: DOID:0050781 +name: Ogden syndrome +def: "An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys." [url:http\://en.wikipedia.org/wiki/N-acetyltransferase, url:http\://en.wikipedia.org/wiki/NatA_Acetyltransferase, url:http\://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1, url:http\://repository.cshl.edu/id/eprint/27483, url:http\://www.nature.com/news/2011/110623/full/news.2011.382.html, url:http\://www.ncbi.nlm.nih.gov/gene/8260, url:http\://www.ncbi.nlm.nih.gov/pubmed/21700266, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432, url:www.omim.org/entry/300855?search=300855] +synonym: "N-alpha-acetyltransferase" EXACT [] +synonym: "N-terminal acetyltransferase deficiency" EXACT [] +synonym: "OGDNS" EXACT [] +synonym: "X-linked Malformation and Infantile Lethality Syndrome" EXACT [] +xref: OMIM:300013 +xref: OMIM:300855 +is_a: DOID:0050735 ! X-linked disease +created_by: lschriml +creation_date: 2013-07-17T10:18:00Z + +[Term] +id: DOID:0050782 +name: Zollinger-Ellison Syndrome +def: "A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/, url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract] +xref: ICD10CM:E16.4 +xref: MSH:D015043 +xref: NCI:C3453 +xref: SNOMEDCT_US_2015_03_01:154694003 +xref: SNOMEDCT_US_2015_03_01:190443003 +xref: SNOMEDCT_US_2015_03_01:267477002 +xref: SNOMEDCT_US_2015_03_01:53132006 +xref: UMLS_CUI:C0043515 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2013-10-23T12:51:49Z + +[Term] +id: DOID:0050783 +name: secondary progressive multiple sclerosis +def: "A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms] +synonym: "Secondary-progressive MS " EXACT [] +synonym: "SPMS" EXACT [] +xref: MSH:D020528 +xref: SNOMEDCT_US_2015_03_01:425500002 +xref: UMLS_CUI:C0751965 +is_a: DOID:2377 ! multiple sclerosis +created_by: lschriml +creation_date: 2013-11-07T11:22:49Z + +[Term] +id: DOID:0050784 +name: primary progressive multiple sclerosis +def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx] +synonym: "PPMS" EXACT [] +synonym: "Primary-progressive MS" EXACT [] +xref: MSH:D020528 +xref: SNOMEDCT_US_2015_03_01:428700003 +xref: UMLS_CUI:C0751964 +is_a: DOID:2377 ! multiple sclerosis +created_by: lschriml +creation_date: 2013-11-07T11:26:58Z + +[Term] +id: DOID:0050785 +name: progressive relapsing multiple sclerosis +def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx] +synonym: "PRMS" EXACT [] +synonym: "Progressive-relapsing MS" EXACT [] +xref: MSH:D020528 +xref: SNOMEDCT_US_2015_03_01:230374002 +xref: UMLS_CUI:C0393666 +is_a: DOID:2377 ! multiple sclerosis +created_by: lschriml +creation_date: 2013-11-07T11:32:37Z + +[Term] +id: DOID:0050786 +name: iridogoniodysgenesis syndrome +def: "An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene." [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19175065] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "IGDS" EXACT [] +synonym: "IRID 1" EXACT [] +synonym: "IRID 2" EXACT [] +synonym: "iridogoniodysgenesis type 1" EXACT [] +synonym: "iridogoniodysgenesis type 2" EXACT [] +xref: OMIM:137600 +xref: OMIM:601631 +xref: ORDO:98634 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T10:28:51Z + +[Term] +id: DOID:0050787 +name: juvenile polyposis syndrome +def: "An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/] +xref: OMIM:174900 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T11:25:28Z + +[Term] +id: DOID:0050788 +name: proximal symphalangism +def: "An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness." [url:http\://omim.org/entry/185800?search=185800&highlight=185800, url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250] +synonym: "Cushing's symphalangism" EXACT [] +xref: KEGG:H00484 +xref: OMIM:185800 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T11:43:22Z + +[Term] +id: DOID:0050789 +name: tarsal-carpal coalition syndrome +def: "An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion." [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:http\://omim.org/entry/186570?search=186570&highlight=186570, url:http\://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/22326510, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412] +xref: OMIM:186570 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T11:50:00Z + +[Term] +id: DOID:0050790 +name: fibular hypoplasia and complex brachydactyly +def: "An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly." [url:http\://omim.org/entry/228900?search=228900&highlight=228900, url:http\://www.ncbi.nlm.nih.gov/pubmed/16222676, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple] +synonym: "Du Pan syndrome" EXACT [] +xref: KEGG:H00467 +xref: OMIM:228900 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-11-12T12:21:56Z + +[Term] +id: DOID:0050791 +name: persistent mullerian duct syndrome +def: "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.ncbi.nlm.nih.gov/pubmed/20352001, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856] +xref: MSH:C536665 +xref: OMIM:261550 +xref: SNOMEDCT_US_2015_03_01:702358005 +xref: UMLS_CUI:C1849930 +is_a: DOID:3765 ! pseudohermaphroditism +created_by: lschriml +creation_date: 2013-11-12T12:26:49Z + +[Term] +id: DOID:0050792 +name: multiple cutaneous and mucosal venous malformations +def: "An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions." [url:http\://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations, url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301733] +xref: OMIM:600195 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T12:38:33Z + +[Term] +id: DOID:0050793 +name: short QT syndrome +def: "An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart." [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083] +xref: OMIM:609620 +xref: OMIM:609621 +xref: OMIM:609622 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2013-11-12T12:59:42Z + +[Term] +id: DOID:0050794 +name: multiple synostoses syndrome +def: "A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance." [url:http\://rarediseases.info.nih.gov/gard/3836/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237] +xref: OMIM:186500 +xref: OMIM:610017 +xref: OMIM:612961 +is_a: DOID:1934 ! dysostosis +created_by: lschriml +creation_date: 2013-11-12T01:08:42Z + +[Term] +id: DOID:0050795 +name: cone dystrophy +def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/] +subset: DO_MGI_slim +synonym: "retinal cone dystrophy" EXACT [] +xref: OMIM:180020 +xref: OMIM:610024 +xref: OMIM:610356 +xref: OMIM:610478 +xref: OMIM:613093 +is_a: DOID:5679 ! retinal disease +created_by: lschriml +creation_date: 2013-11-12T01:19:22Z + +[Term] +id: DOID:0050796 +name: achalasia microcephaly syndrome +def: "An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)." [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN] +synonym: "Achalasia microcephaly" EXACT [] +synonym: "ACHALASIA-MICROCEPHALY SYNDROME" EXACT [] +xref: MSH:C536010 +xref: OMIM:200450 +xref: UMLS_CUI:C1860212 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-11-20T03:01:06Z + +[Term] +id: DOID:0050797 +name: peroxisomal acyl-CoA oxidase deficiency +def: "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11815777, url:http\://www.ncbi.nlm.nih.gov/pubmed/17458872, url:http\://www.ncbi.nlm.nih.gov/pubmed/18536048, url:http\://www.omim.org/entry/264470, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971] +synonym: "Peroxisomal acyl-coenzyme A oxidase" EXACT [] +xref: MSH:C536662 +xref: OMIM:264470 +xref: UMLS_CUI:C1849678 +is_a: DOID:906 ! peroxisomal disease +created_by: lschriml +creation_date: 2013-11-21T10:47:41Z + +[Term] +id: DOID:0050798 +name: cerebral creatine deficiency syndrome +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2013-11-21T12:10:58Z + +[Term] +id: DOID:0050799 +name: guanidinoacetate methyltransferase deficiency +synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 2" EXACT [] +synonym: "GAMT deficiency" EXACT [] +xref: OMIM:612736 +is_a: DOID:0050798 ! cerebral creatine deficiency syndrome +created_by: lschriml +creation_date: 2013-11-21T12:10:58Z + +[Term] +id: DOID:0050800 +name: creatine transporter deficiency +synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 1" EXACT [] +synonym: "SLC6A8 deficiency" EXACT [] +xref: OMIM:300352 +is_a: DOID:0050798 ! cerebral creatine deficiency syndrome +created_by: lschriml +creation_date: 2013-11-21T12:10:58Z + +[Term] +id: DOID:0050801 +name: androgenic alopecia +synonym: "alopecia androgenetica, male pattern baldness" EXACT [] +synonym: "androgenetic alopecia" EXACT [] +xref: OMIM:109200 +xref: OMIM:300710 +xref: OMIM:612421 +is_a: DOID:987 ! alopecia +created_by: lschriml +creation_date: 2013-11-21T12:48:07Z + +[Term] +id: DOID:0050802 +name: Ehlers-Danlos syndrome progeroid type +def: "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm, url:http\://www.omim.org/entry/615349?search=130070&highlight=130070, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type] +subset: DO_MGI_slim +synonym: "defective biosynthesis of proteodermatan sulfate" RELATED [] +synonym: "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2" EXACT [] +synonym: "XGPT deficiency" RELATED [] +synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" RELATED [] +xref: ICD10CM:Q79.6 +xref: MSH:C536201 +xref: OMIM:130070 +xref: OMIM:615349 +xref: ORDO:75496 +xref: UMLS_CUI:C1869122 +is_a: DOID:13359 ! Ehlers-Danlos syndrome +created_by: lschriml +creation_date: 2013-12-02T11:55:24Z + +[Term] +id: DOID:0050803 +name: glioblastoma classical subtype +def: "A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475] +is_a: DOID:3068 ! glioblastoma multiforme +created_by: lschriml +creation_date: 2013-12-02T12:40:57Z + +[Term] +id: DOID:0050804 +name: glioblastoma proneural subtype +def: "A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] +is_a: DOID:3068 ! glioblastoma multiforme +created_by: lschriml +creation_date: 2013-12-02T12:40:57Z + +[Term] +id: DOID:0050805 +name: glioblastoma mesenchymal subtype +def: "A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] +is_a: DOID:3068 ! glioblastoma multiforme +created_by: lschriml +creation_date: 2013-12-02T12:40:57Z + +[Term] +id: DOID:0050806 +name: glioblastoma neural subtype +def: "A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] +is_a: DOID:3068 ! glioblastoma multiforme +created_by: lschriml +creation_date: 2013-12-02T12:40:57Z + +[Term] +id: DOID:0050807 +name: Kahrizi syndrome +def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene." [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972] +xref: OMIM:612713 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-12-02T02:28:58Z + +[Term] +id: DOID:0050808 +name: mucopolysaccharidosis IV +is_obsolete: true +created_by: lschriml +creation_date: 2013-12-02T02:56:58Z + +[Term] +id: DOID:0050809 +name: mucopolysaccharidosis IX +def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII] +xref: OMIM:601492 +is_a: DOID:12798 ! mucopolysaccharidosis +created_by: lschriml +creation_date: 2013-12-02T02:56:58Z + +[Term] +id: DOID:0050810 +name: biotin deficiency +def: "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth." [url:http\://en.wikipedia.org/wiki/Biotin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html] +synonym: "B7 deficiency" EXACT [] +is_a: DOID:5113 ! nutritional deficiency disease +created_by: lschriml +creation_date: 2013-12-02T03:46:44Z + +[Term] +id: DOID:0050811 +name: congenital adrenal hyperplasia +def: "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency." [url:http\://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&, url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "adrenal hyperplasia 1" EXACT [] +synonym: "congenital lipoid adrenal hyperplasia " EXACT [] +synonym: "lipoid CAH" EXACT [] +xref: ICD10CM:E25 +xref: ICD10CM:E25.9 +xref: ICD9CM:255.2 +xref: OMIM:201710 +xref: OMIM:201810 +xref: OMIM:201910 +xref: OMIM:202010 +xref: OMIM:202110 +xref: ORDO:418 +xref: SNOMEDCT_US_2015_03_01:154706003 +xref: SNOMEDCT_US_2015_03_01:190510000 +xref: SNOMEDCT_US_2015_03_01:190519004 +xref: SNOMEDCT_US_2015_03_01:267395000 +xref: UMLS_CUI:C0701163 +is_a: DOID:1701 ! steroid inherited metabolic disorder +created_by: lschriml +creation_date: 2013-12-04T12:52:02Z + +[Term] +id: DOID:0050812 +name: spondyloepimetaphyseal dysplasia, Pakistani type +def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [url:http\://omim.org/entry/612847, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282] +synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [] +xref: OMIM:612847 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia +created_by: lschriml +creation_date: 2013-12-04T01:24:55Z + +[Term] +id: DOID:0050813 +name: spondyloepiphyseal dysplasia with congenital joint dislocations +def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." [url:http\://omim.org/entry/143095?search=143095&highlight=143095, url:http\://www.informatics.jax.org/disease/143095, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/, url:http\://www.uniprot.org/diseases/DI-01753] +synonym: "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS" EXACT [] +synonym: "CHST3-Related Skeletal Dysplasia" EXACT [] +synonym: "Humero-spinal dysostosis with congenital heart disease" EXACT [] +synonym: "Humerospinal Dysostosis" EXACT [] +synonym: "Humerospinal dysostosis" EXACT [] +synonym: "Kozlowski Celermajer Tink syndrome" EXACT [] +synonym: "Omani Type" EXACT [] +synonym: "Spondyloepiphyseal Dysplasia" EXACT [] +xref: OMIM:143095 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia +created_by: lschriml +creation_date: 2013-12-04T01:30:01Z + +[Term] +id: DOID:0050814 +name: temtamy preaxial brachydactyly syndrome +def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21129728, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449] +synonym: "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE" EXACT [] +xref: OMIM:605282 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-12-05T12:12:10Z + +[Term] +id: DOID:0050815 +name: eye adnexa disease +def: "An eye and adnexa disease that is located_in the adnexa of the eye." [url:http\://en.wikipedia.org/wiki/Accessory_visual_structures] +is_a: DOID:1492 ! eye and adnexa disease +created_by: lschriml +creation_date: 2013-12-05T12:55:42Z + +[Term] +id: DOID:0050816 +name: urofacial syndrome +def: "An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding." [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704] +synonym: "hydronephrosis with peculiar facial expression" EXACT [] +synonym: "Ochoa syndrome" EXACT [] +xref: OMIM:236730 +xref: OMIM:615112 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2013-12-05T01:10:52Z + +[Term] +id: DOID:0050817 +name: Stargardt disease +def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." [url:http\://en.wikipedia.org/wiki/Stargardt_disease] +synonym: "STARGARDT DISEASE 1" EXACT [] +xref: OMIM:248200 +xref: OMIM:600110 +xref: OMIM:603786 +is_a: DOID:10871 ! age related macular degeneration +created_by: lschriml +creation_date: 2013-12-11T01:49:54Z + +[Term] +id: DOID:0050818 +name: transcobalamin II deficiency +def: "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII." [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf] +synonym: "TCN2 deficiency" EXACT [] +xref: OMIM:275350 +is_a: DOID:0050731 ! vitamin B12 deficiency +created_by: lschriml +creation_date: 2013-12-11T02:48:06Z + +[Term] +id: DOID:0050819 +name: Matthew-Wood syndrome +def: "An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect." [url:http\://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470] +synonym: "MCOPS9" EXACT [] +synonym: "microphthalmia syndromic type 9 " EXACT [] +xref: OMIM:601186 +is_a: DOID:0050739 ! autosomal genetic disease +created_by: lschriml +creation_date: 2013-12-11T03:11:49Z + +[Term] +id: DOID:0050820 +name: atrioventricular block +def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart." [url:http\://en.wikipedia.org/wiki/Atrioventricular_block] +synonym: "AV block" EXACT [] +xref: ICD10CM:I44.3 +xref: ICD10CM:I44.30 +xref: ICD9CM:426.10 +xref: MSH:D054537 +xref: NCI:C26703 +xref: SNOMEDCT_US_2015_03_01:195040005 +xref: SNOMEDCT_US_2015_03_01:195043007 +xref: SNOMEDCT_US_2015_03_01:233917008 +xref: SNOMEDCT_US_2015_03_01:58547007 +xref: UMLS_CUI:C0004245 +is_a: DOID:10273 ! heart conduction disease +created_by: lschriml +creation_date: 2014-02-12T01:35:05Z + +[Term] +id: DOID:0050821 +name: first-degree atrioventricular block +is_a: DOID:0050820 ! atrioventricular block +created_by: lschriml +creation_date: 2014-02-12T01:39:42Z + +[Term] +id: DOID:0050822 +name: second-degree atrioventricular block +synonym: "second-degree heart block" EXACT [] +is_a: DOID:0050820 ! atrioventricular block +created_by: lschriml +creation_date: 2014-02-12T01:39:42Z + +[Term] +id: DOID:0050823 +name: third-degree atrioventricular block +synonym: "complete AV block" EXACT [] +is_a: DOID:0050820 ! atrioventricular block +created_by: lschriml +creation_date: 2014-02-12T01:39:42Z + +[Term] +id: DOID:0050824 +name: sinoatrial node disease +def: "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm." [url:http\://en.wikipedia.org/wiki/Sinoatrial_node] +synonym: "SA node" EXACT [] +synonym: "sinuatrial node" EXACT [] +is_a: DOID:10273 ! heart conduction disease +created_by: lschriml +creation_date: 2014-02-12T01:47:54Z + +[Term] +id: DOID:0050825 +name: endocardium disease +def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart." [url:http\://en.wikipedia.org/wiki/Endocardium, url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604\,d.dmQ&cad=rja] +is_a: DOID:114 ! heart disease +created_by: lschriml +creation_date: 2014-02-12T01:53:42Z + +[Term] +id: DOID:0050826 +name: tricuspid valve disease +alt_id: DOID:13834 +synonym: "disease of tricuspid valve" EXACT [ICD9CM_2006:397.0] +synonym: "RH. tricuspid valve disease" EXACT [SNOMEDCT_2005_07_31:155289000, SNOMEDCT_2005_07_31:266282000] +synonym: "Rheumatic disease of tricuspid valve (disorder)" EXACT [SNOMEDCT_2005_07_31:49699002] +synonym: "rheumatic tricuspid valve disease" EXACT [] +synonym: "Rheumatic tricuspid valve disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194745002] +synonym: "Tricuspid disease" EXACT [MTHICD9_2006:397.0] +xref: ICD10CM:I07 +xref: ICD10CM:I07.9 +xref: ICD9CM:397.0 +xref: SNOMEDCT_US_2015_03_01:155289000 +xref: SNOMEDCT_US_2015_03_01:194745002 +xref: SNOMEDCT_US_2015_03_01:266282000 +xref: SNOMEDCT_US_2015_03_01:49699002 +xref: UMLS_CUI:C0264776 +is_a: DOID:4079 ! heart valve disease +created_by: lschriml +creation_date: 2014-02-12T02:55:24Z + +[Term] +id: DOID:0050827 +name: rheumatic heart disease +def: "A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage." [url:http\://en.wikipedia.org/wiki/Rheumatic_heart_disease] +is_a: DOID:4079 ! heart valve disease +created_by: lschriml +creation_date: 2014-02-12T03:03:38Z + +[Term] +id: DOID:0050828 +name: artery disease +def: "A vascular disease that is located_in an artery." [url:http\://en.wikipedia.org/wiki/Artery#Pathology] +is_a: DOID:178 ! vascular disease +created_by: lschriml +creation_date: 2014-02-12T03:08:35Z + +[Term] +id: DOID:0050829 +name: pericardium disease +def: "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart." [url:http\://en.wikipedia.org/wiki/Pericardium] +is_a: DOID:1287 ! cardiovascular system disease +created_by: lschriml +creation_date: 2014-02-18T12:20:15Z + +[Term] +id: DOID:0050830 +name: peripheral artery disease +def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000170.htm, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/pad/] +is_a: DOID:0050828 ! artery disease +created_by: lschriml +creation_date: 2014-02-18T12:41:09Z + +[Term] +id: DOID:0050831 +name: familial encephalopathy with neuroserpin inclusion bodies +def: "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern." [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport] +synonym: "FENIB" EXACT [] +xref: OMIM:604218 +is_a: DOID:1289 ! neurodegenerative disease +created_by: lschriml +creation_date: 2014-02-24T10:14:57Z + +[Term] +id: DOID:0050832 +name: pyrimidine metabolic disorder +def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism." [url:http\://en.wikipedia.org/wiki/Pyrimidine_metabolism, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9] +is_a: DOID:655 ! inherited metabolic disorder +created_by: lschriml +creation_date: 2014-02-24T10:29:22Z + +[Term] +id: DOID:0050833 +name: orotic aciduria +def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine." [url:http\://en.wikipedia.org/wiki/Orotic_aciduria, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9, url:http\://www.omim.org/entry/258900] +xref: OMIM:258900 +is_a: DOID:0050832 ! pyrimidine metabolic disorder +created_by: lschriml +creation_date: 2014-02-24T10:29:22Z + +[Term] +id: DOID:0050834 +name: CHARGE syndrome +def: "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract] +synonym: "CHARGE association" EXACT [] +xref: ICD10:Q87.8 +xref: MSH:D058747 +xref: NCI:C75100 +xref: OMIM:214800 +xref: ORDO:138 +xref: SNOMEDCT_US_2015_03_01:394529000 +xref: SNOMEDCT_US_2015_03_01:47535005 +xref: UMLS_CUI:C0265354 +xref: UMLS_CUI:C2936502 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-03-18T11:58:38Z + +[Term] +id: DOID:0050835 +name: generalized dystonia +alt_id: DOID:11910 +alt_id: DOID:11911 +alt_id: DOID:11912 +alt_id: DOID:14164 +alt_id: DOID:5159 +alt_id: DOID:531 +def: "A dystonia that affects most or all of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +comment: MSH:C538001 added from NeuroDevNet [WAK]. +synonym: "Dystonia 12" RELATED [MSH:C538001] +synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370] +synonym: "Dystonia lenticularis (disorder)" EXACT [SNOMEDCT_2005_07_31:52274002] +synonym: "dystonia musculorum deformans" EXACT [] +synonym: "Dystonia, deformans progressiva" EXACT [MTHICD9_2006:333.6] +synonym: "familial dystonia" EXACT [] +synonym: "Familiar Dystonia" EXACT [NCI2004_11_17:C35527] +synonym: "Familiar Idiopathic Dystonia" EXACT [NCI2004_11_17:C35437] +synonym: "fragments of torsion dystonia" EXACT [] +synonym: "Idiopathic familial dystonia" EXACT [SNOMEDCT_2005_07_31:192852006] +synonym: "idiopathic familial dystonia" EXACT [] +synonym: "Idiopathic familial dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:230318005] +synonym: "idiopathic non-familial dystonia" EXACT [] +synonym: "Idiopathic non-familial dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:230321007] +synonym: "Idiopathic Torsion Dystonia" EXACT [NCI2004_11_17:C34564] +synonym: "Idiopathic torsion dystonia" EXACT [ICD9CM_2006:333.6, SNOMEDCT_2005_07_31:155008004] +synonym: "Idiopathic torsion dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:22451001] +synonym: "Non-familiar Idiopathic Dystonia" EXACT [NCI2004_11_17:C35438] +synonym: "symptomatic torsion dystonia" EXACT [] +synonym: "Symptomatic torsion dystonia (disorder)" EXACT [SNOMEDCT_2005_07_31:55776008] +synonym: "Symptomatic torsion dystonia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192858005] +xref: ICD10CM:G24.1 +xref: ICD10CM:G24.2 +xref: ICD9CM:333.6 +xref: ICD9CM:333.8 +xref: MSH:D004422 +xref: MSH:D020821 +xref: NCI:C34564 +xref: NCI:C35437 +xref: NCI:C35438 +xref: NCI:C35527 +xref: OMIM:128100 +xref: SNOMEDCT_US_2015_03_01:155008004 +xref: SNOMEDCT_US_2015_03_01:192852006 +xref: SNOMEDCT_US_2015_03_01:192853001 +xref: SNOMEDCT_US_2015_03_01:192858005 +xref: SNOMEDCT_US_2015_03_01:192859002 +xref: SNOMEDCT_US_2015_03_01:192862004 +xref: SNOMEDCT_US_2015_03_01:22451001 +xref: SNOMEDCT_US_2015_03_01:230318005 +xref: SNOMEDCT_US_2015_03_01:230321007 +xref: SNOMEDCT_US_2015_03_01:267584007 +xref: SNOMEDCT_US_2015_03_01:431034009 +xref: SNOMEDCT_US_2015_03_01:55776008 +xref: SNOMEDCT_US_2015_03_01:57937000 +xref: UMLS_CUI:C0013423 +xref: UMLS_CUI:C0154674 +xref: UMLS_CUI:C0154675 +xref: UMLS_CUI:C0393598 +xref: UMLS_CUI:C0393601 +xref: UMLS_CUI:C0752207 +is_a: DOID:543 ! dystonia +created_by: lschriml +creation_date: 2014-03-18T01:13:36Z + +[Term] +id: DOID:0050836 +name: focal dystonia +def: "A dystonia that is localized to a specific part of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +is_a: DOID:543 ! dystonia +created_by: lschriml +creation_date: 2014-03-18T01:13:36Z + +[Term] +id: DOID:0050837 +name: multifocal dystonia +def: "A dystonia that involves two or more unrelated body parts." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +is_a: DOID:543 ! dystonia +created_by: lschriml +creation_date: 2014-03-18T01:13:36Z + +[Term] +id: DOID:0050838 +name: segmental dystonia +def: "A dystonia that affects two or more adjacent parts of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +is_a: DOID:543 ! dystonia +created_by: lschriml +creation_date: 2014-03-18T01:13:36Z + +[Term] +id: DOID:0050839 +name: anismus +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050840 +name: cervical dystonia +def: "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards." [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/] +synonym: "spasmodic torticollis" EXACT [] +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050841 +name: focal hand dystonia +alt_id: DOID:13467 +def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [url:http\://en.wikipedia.org/wiki/Dystonia] +synonym: "organic writer's cramp" EXACT [] +xref: ICD9CM:333.84 +xref: MSH:D020821 +xref: SNOMEDCT_US_2015_03_01:155009007 +xref: SNOMEDCT_US_2015_03_01:267690000 +xref: SNOMEDCT_US_2015_03_01:52008007 +xref: SNOMEDCT_US_2015_03_01:79994003 +xref: UMLS_CUI:C0154676 +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050842 +name: oculogyric crisis +def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [url:http\://en.wikipedia.org/wiki/Oculogyric_crisis] +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050843 +name: oromandibular dystonia +def: "A focal dystonia that is characterized by distortions of the mouth and tongue." [url:http\://en.wikipedia.org/wiki/Oromandibular_dystonia] +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050844 +name: spasmodic dystonia +def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech." [url:http\://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx] +synonym: "laryngeal dystonia" EXACT [] +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:30:33Z + +[Term] +id: DOID:0050845 +name: cranio-facial dystonia +def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +is_a: DOID:0050836 ! focal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:33:33Z + +[Term] +id: DOID:0050846 +name: hemidystonia +def: "A multifocal dystonia that involves the arm and leg on the same side of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +is_a: DOID:0050837 ! multifocal dystonia +created_by: lschriml +creation_date: 2014-03-18T01:39:30Z + +[Term] +id: DOID:0050847 +name: sleep apnea +def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep." [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] +is_a: DOID:535 ! sleep disorder +created_by: lschriml +creation_date: 2014-03-20T03:57:22Z + +[Term] +id: DOID:0050848 +name: obstructive sleep apnea +def: "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "obstructive sleep apnea syndrome" EXACT [] +xref: ICD10CM:G47.3 +xref: ICD10CM:G47.30 +xref: ICD9CM:780.57 +xref: MSH:D012891 +xref: NCI:C26884 +xref: OMIM:107650 +xref: SNOMEDCT_US_2015_03_01:155614007 +xref: SNOMEDCT_US_2015_03_01:194441007 +xref: SNOMEDCT_US_2015_03_01:196166002 +xref: SNOMEDCT_US_2015_03_01:206750008 +xref: SNOMEDCT_US_2015_03_01:230493001 +xref: SNOMEDCT_US_2015_03_01:313246000 +xref: SNOMEDCT_US_2015_03_01:73430006 +xref: UMLS_CUI:C0020529 +xref: UMLS_CUI:C0037315 +xref: UMLS_CUI:C0338495 +is_a: DOID:0050847 ! sleep apnea +created_by: lschriml +creation_date: 2014-03-20T03:57:22Z + +[Term] +id: DOID:0050849 +name: periampullary adenoma +is_a: DOID:10022 ! ampulla of vater neoplasm +created_by: lschriml +creation_date: 2014-04-15T03:26:13Z + +[Term] +id: DOID:0050850 +name: diabetic encephalopathy +is_a: DOID:936 ! brain disease +created_by: lschriml +creation_date: 2014-04-15T03:33:49Z + +[Term] +id: DOID:0050851 +name: glomerulosclerosis +def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." [url:http\://en.wikipedia.org/wiki/Glomerulosclerosis] +is_a: DOID:2921 ! glomerulonephritis +created_by: lschriml +creation_date: 2014-04-15T03:40:31Z + +[Term] +id: DOID:0050852 +name: limb ischemia +is_a: DOID:326 ! ischemia +created_by: lschriml +creation_date: 2014-04-15T03:46:27Z + +[Term] +id: DOID:0050853 +name: chronic venous insufficiency +is_a: DOID:10128 ! venous insufficiency +created_by: lschriml +creation_date: 2014-04-15T03:50:26Z + +[Term] +id: DOID:0050854 +name: Muckle-Wells syndrome +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2014-04-15T03:53:41Z + +[Term] +id: DOID:0050855 +name: renal fibrosis +is_a: DOID:557 ! kidney disease +created_by: lschriml +creation_date: 2014-04-15T03:56:58Z + +[Term] +id: DOID:0050856 +name: oppositional defiant disorder +is_a: DOID:0060038 ! specific developmental disorder +created_by: lschriml +creation_date: 2014-04-15T04:03:08Z + +[Term] +id: DOID:0050857 +name: Perrault syndrome +def: "An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure." [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:http\://www.ncbi.nlm.nih.gov/pubmed/23541340] +xref: OMIM:233400 +xref: OMIM:614129 +xref: OMIM:614926 +xref: OMIM:615300 +xref: Orphanet:ORPHA2855 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: lschriml +creation_date: 2014-04-24T01:56:35Z + +[Term] +id: DOID:0050858 +name: Marshall-Smith syndrome +def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation." [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1] +xref: OMIM:602535 +xref: Orphanet:ORPHA561 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-04-24T02:06:30Z + +[Term] +id: DOID:0050859 +name: hemorrhagic cystitis +is_a: DOID:1679 ! cystitis +created_by: lschriml +creation_date: 2014-04-29T01:31:08Z + +[Term] +id: DOID:0050860 +name: colorectal adenoma +is_a: DOID:4610 ! intestinal benign neoplasm +created_by: lschriml +creation_date: 2014-05-05T03:14:49Z + +[Term] +id: DOID:0050861 +name: colorectal adenocarcinoma +def: "A colorectal cancer that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +is_a: DOID:9256 ! colorectal cancer +created_by: lschriml +creation_date: 2014-05-05T03:16:55Z + +[Term] +id: DOID:0050862 +name: pyometritis +is_a: DOID:345 ! uterine disease +created_by: lschriml +creation_date: 2014-05-05T03:25:57Z + +[Term] +id: DOID:0050863 +name: arteritic anterior ischemic optic neuropathy +is_a: DOID:12010 ! anterior ischemic optic neuropathy +created_by: lschriml +creation_date: 2014-05-09T02:38:13Z + +[Term] +id: DOID:0050864 +name: non-arteritic anterior ischemic optic neuropathy +synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [] +is_a: DOID:12010 ! anterior ischemic optic neuropathy +created_by: lschriml +creation_date: 2014-05-09T02:38:13Z + +[Term] +id: DOID:0050865 +name: tongue squamous cell carcinoma +def: "A tongue cancer that is located_in the squamous cells of the tongue." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] +synonym: "squamous-cell carcinoma" EXACT [] +xref: ICD10:C44 +xref: MSH:D002294 +xref: NCI:C2929 +xref: SNOMEDCT_US_2015_03_01:154605007 +xref: SNOMEDCT_US_2015_03_01:189566008 +xref: SNOMEDCT_US_2015_03_01:28899001 +xref: SNOMEDCT_US_2015_03_01:402815007 +xref: UMLS_CUI:C0007137 +is_a: DOID:8649 ! tongue cancer +created_by: lschriml +creation_date: 2014-05-12T02:38:44Z + +[Term] +id: DOID:0050866 +name: oral squamous cell carcinoma +def: "An oral cavity cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "mouth squamous cell carcinoma" EXACT [] +is_a: DOID:8618 ! oral cavity cancer +created_by: lschriml +creation_date: 2014-05-12T02:45:04Z + +[Term] +id: DOID:0050867 +name: Jensen syndrome +def: "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia." [url:http\://omim.org/entry/311150, url:http\://www.ncbi.nlm.nih.gov/pubmed/3425626, url:http\://www.ncbi.nlm.nih.gov/pubmed/7195649, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple] +synonym: "OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA" EXACT [] +xref: OMIM:311150 +xref: Orphanet:ORPHA3213 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-06-03T01:18:20Z + +[Term] +id: DOID:0050868 +name: hepatocellular adenoma +is_a: DOID:657 ! adenoma +created_by: lschriml +creation_date: 2014-06-25T05:07:35Z + +[Term] +id: DOID:0050869 +name: villous adenoma +is_a: DOID:657 ! adenoma +created_by: lschriml +creation_date: 2014-06-25T05:08:30Z + +[Term] +id: DOID:0050870 +name: in situ pulmonary adenocarcinoma +def: "A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern." [url:http\://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma] +synonym: "bronchioalveolar carcinoma" EXACT [] +is_a: DOID:1324 ! lung cancer +created_by: lschriml +creation_date: 2014-06-25T05:10:52Z + +[Term] +id: DOID:0050871 +name: fibroma +is_a: DOID:0060084 ! cell type benign neoplasm +created_by: lschriml +creation_date: 2014-06-25T05:14:03Z + +[Term] +id: DOID:0050872 +name: large cell neuroendocrine carcinoma +is_a: DOID:4556 ! lung large cell carcinoma +created_by: lschriml +creation_date: 2014-06-25T05:17:11Z + +[Term] +id: DOID:0050873 +name: follicular lymphoma +def: "A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)." [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287] +subset: DO_cancer_slim +is_a: DOID:0060060 ! non-Hodgkin lymphoma +created_by: lschriml +creation_date: 2014-06-25T05:24:10Z + +[Term] +id: DOID:0050875 +name: small cell neuroendocrine carcinoma +is_a: DOID:5409 ! lung small cell carcinoma +created_by: lschriml +creation_date: 2014-06-25T05:31:24Z + +[Term] +id: DOID:0050876 +name: Caroli disease +def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts." [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract] +xref: MSH:D016767 +xref: NCI:C84619 +xref: SNOMEDCT_US_2015_03_01:111331000 +xref: UMLS_CUI:C0162510 +is_a: DOID:4138 ! bile duct disease +created_by: lschriml +creation_date: 2014-07-09T01:28:09Z + +[Term] +id: DOID:0050877 +name: pancreatic agenesis +def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth." [url:http\://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805] +synonym: "partial pancreatic agenesis" EXACT [] +xref: OMIM:260370 +is_a: DOID:26 ! pancreas disease +created_by: lschriml +creation_date: 2014-07-09T03:35:41Z + +[Term] +id: DOID:0050878 +name: CLONE OF congenital afibrinogenemia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Factor I deficiency" EXACT [NCI2004_11_17:C26692] +synonym: "Fibrinogen deficiency" EXACT [SNOMEDCT_2005_07_31:29718007] +is_obsolete: true +created_by: lschriml +creation_date: 2014-07-29T01:17:13Z + +[Term] +id: DOID:0050879 +name: fragile X-associated tremor/ataxia syndrome +def: "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA." [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.ncbi.nlm.nih.gov/pubmed/18195136, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256] +synonym: "FXTAS syndrome" EXACT [] +xref: OMIM:300623 +is_a: DOID:0050953 ! X-linked hereditary ataxia +created_by: lschriml +creation_date: 2014-08-04T01:52:12Z + +[Term] +id: DOID:0050880 +name: Koolen de Vries syndrome +def: "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene." [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544367, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169] +synonym: "17q21.31 microdeletion syndrome" EXACT [] +synonym: "KANSL1-related intellectual disability syndrome" EXACT [] +synonym: "KdVS" EXACT [] +synonym: "Koolen-De Vries syndrome" EXACT [] +xref: OMIM:610443 +xref: ORDO:96169 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-08-06T12:57:12Z + +[Term] +id: DOID:0050881 +name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia +def: "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP)." [url:http\://omim.org/entry/167320, url:http\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:http\://www.ncbi.nlm.nih.gov/pubmed/21892620, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21304887, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple] +synonym: "IBMPFD" EXACT [] +synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [] +xref: OMIM:167320 +xref: OMIM:615422 +xref: OMIM:615424 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-08-06T02:30:16Z + +[Term] +id: DOID:0050882 +name: spinocerebellar ataxia type 5 +def: "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene." [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=20368622, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766] +xref: OMIM:600224 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2014-08-06T03:51:03Z + +[Term] +id: DOID:0050883 +name: infantile cerebellar-retinal degeneration +def: "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration." [url:http\://omim.org/entry/614559, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=22405087, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23438437, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409] +xref: OMIM:614559 +is_a: DOID:1289 ! neurodegenerative disease +created_by: lschriml +creation_date: 2014-08-06T04:09:42Z + +[Term] +id: DOID:0050884 +name: triosephosphate isomerase deficiency +def: "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait." [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:http\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:http\://www.ncbi.nlm.nih.gov/pubmed/23318931, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport] +synonym: "Triose phosphate-isomerase deficiency" EXACT [] +xref: OMIM:190450 +xref: OMIM:615512 +is_a: DOID:4194 ! glucose metabolism disease +created_by: lschriml +creation_date: 2014-08-07T11:44:31Z + +[Term] +id: DOID:0050885 +name: IMAGe syndrome +def: "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene." [url:http\://omim.org/entry/614732, url:http\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:http\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:http\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:http\://www.ncbi.nlm.nih.gov/pubmed/24065356, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173] +synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [] +xref: OMIM:614732 +is_a: DOID:225 ! syndrome +created_by: lschriml +creation_date: 2014-08-07T12:04:30Z + +[Term] +id: DOID:0050886 +name: Troyer syndrome +def: "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene." [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301556, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple] +synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [] +synonym: "spastic paraplegia type 20" EXACT [] +xref: OMIM:275900 +is_a: DOID:2476 ! hereditary spastic paraplegia +created_by: lschriml +creation_date: 2014-08-07T12:18:56Z + +[Term] +id: DOID:0050887 +name: Townes-Brocks syndrome +def: "An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations." [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=12925729, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple] +xref: OMIM:107480 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2014-08-11T03:58:35Z + +[Term] +id: DOID:0050888 +name: syndromic intellectual disability +def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability] +xref: OMIM:300486 +xref: OMIM:300860 +xref: OMIM:309583 +is_a: DOID:1059 ! intellectual disability +created_by: lschriml +creation_date: 2014-08-14T10:55:32Z + +[Term] +id: DOID:0050889 +name: non-syndromic intellectual disability +def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/] +xref: OMIM:613192 +xref: OMIM:614202 +is_a: DOID:1059 ! intellectual disability +created_by: lschriml +creation_date: 2014-08-14T10:57:36Z + +[Term] +id: DOID:0050890 +name: synucleinopathy +def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells." [url:http\://en.wikipedia.org/wiki/Synucleinopathies] +synonym: "alpha Synucleinopathies " EXACT [] +synonym: "Synucleinopathies " RELATED [] +is_a: DOID:1289 ! neurodegenerative disease +created_by: lschriml +creation_date: 2014-08-14T03:29:17Z + +[Term] +id: DOID:0050891 +name: adrenal cortical adenoma +def: "An adrenal adenoma that is a benign tumor of the adrenal cortex." [url:http\://en.wikipedia.org/wiki/Adrenocortical_adenoma] +synonym: "adrenocortical adenoma" EXACT [] +is_a: DOID:656 ! adrenal adenoma +created_by: lschriml +creation_date: 2014-09-04T01:54:59Z + +[Term] +id: DOID:0050892 +name: adrenal gland pheochromocytoma +def: "An adrenal medulla cancer that is characterized by overproduction of adrenaline." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma, url:http\://en.wikipedia.org/wiki/Pheochromocytoma, url:http\://www.cancer.gov/cancertopics/types/pheochromocytoma] +subset: DO_cancer_slim +is_a: DOID:5719 ! adrenal medulla cancer +created_by: lschriml +creation_date: 2014-09-11T01:01:57Z + +[Term] +id: DOID:0050893 +name: gallbladder adenoma +def: "A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Adenoma] +is_a: DOID:0050625 ! biliary tract neoplasm +created_by: lschriml +creation_date: 2014-09-11T01:53:07Z + +[Term] +id: DOID:0050894 +name: ameloblastoma +def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium." [url:http\://en.wikipedia.org/wiki/Ameloblastoma] +is_a: DOID:0060084 ! cell type benign neoplasm +created_by: lschriml +creation_date: 2014-09-11T02:44:50Z + +[Term] +id: DOID:0050895 +name: bone ameloblastoma +def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone." [url:http\://en.wikipedia.org/wiki/Ameloblastoma] +is_a: DOID:0060094 ! bone benign neoplasm +created_by: lschriml +creation_date: 2014-09-11T02:46:51Z + +[Term] +id: DOID:0050896 +name: bone squamous cell carcinoma +def: "A bone carcinoma that derives_from squamous epithelial cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +is_a: DOID:2762 ! bone carcinoma +created_by: lschriml +creation_date: 2014-09-11T02:50:46Z + +[Term] +id: DOID:0050897 +name: bone chondrosarcoma +def: "A chondrosarcoma that is located_in bone." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] +subset: DO_cancer_slim +is_a: DOID:3371 ! chondrosarcoma +created_by: lschriml +creation_date: 2014-09-11T02:55:07Z + +[Term] +id: DOID:0050898 +name: phalanx chondroma +def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells." [url:http\://en.wikipedia.org/wiki/Chondroma] +is_a: DOID:0060094 ! bone benign neoplasm +created_by: lschriml +creation_date: 2014-09-11T03:42:42Z + +[Term] +id: DOID:0050899 +name: brain stem medulloblastoma +def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma] +subset: DO_cancer_slim +is_a: DOID:4203 ! brain stem cancer +created_by: lschriml +creation_date: 2014-10-06T14:23:29Z + +[Term] +id: DOID:0050900 +name: sacrum chordoma +def: "A spinal chordoma that is located_in the sacrum." [url:http\://en.wikipedia.org/wiki/Sacrum, url:http\://www.cancer.gov/dictionary?CdrID=45297] +subset: DO_cancer_slim +is_a: DOID:4153 ! spinal chordoma +created_by: lschriml +creation_date: 2014-10-06T14:25:16Z + +[Term] +id: DOID:0050901 +name: corpus callosum oligodendroglioma +def: "A brain oligodendroglioma located_in the corpus callosum." [url:http\://en.wikipedia.org/wiki/Corpus_callosum, url:http\://en.wikipedia.org/wiki/Oligodendroglioma, url:http\://www.cancer.gov/dictionary?CdrID=46257] +subset: DO_cancer_slim +is_a: DOID:3187 ! brain oligodendroglioma +created_by: lschriml +creation_date: 2014-10-06T14:26:18Z + +[Term] +id: DOID:0050902 +name: medulloblastoma +alt_id: DOID:0060105 +alt_id: DOID:168 +alt_id: DOID:3858 +alt_id: DOID:4981 +def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "brain medulloblastoma" EXACT [] +synonym: "CNS PNET" EXACT [NCI2004_11_17:C5398] +synonym: "CPNET" EXACT [SNOMEDCT_2005_07_31:39781001] +synonym: "infratentorial primitive neuroectodermal tumor " EXACT [] +synonym: "localized primitive neuroectodermal tumor" EXACT [] +xref: MSH:D008527 +xref: MSH:D018242 +xref: NCI:C27294 +xref: NCI:C3222 +xref: NCI:C5398 +xref: OMIM:155255 +xref: SNOMEDCT_US_2015_03_01:189921005 +xref: SNOMEDCT_US_2015_03_01:189925001 +xref: SNOMEDCT_US_2015_03_01:39781001 +xref: SNOMEDCT_US_2015_03_01:443333004 +xref: SNOMEDCT_US_2015_03_01:699028006 +xref: SNOMEDCT_US_2015_03_01:83217000 +xref: UMLS_CUI:C0025149 +xref: UMLS_CUI:C0206663 +xref: UMLS_CUI:C1334410 +is_a: DOID:4706 ! infratentorial cancer +created_by: lschriml +creation_date: 2014-10-06T14:36:37Z + +[Term] +id: DOID:0050903 +name: parietal lobe ependymoma +def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain." [url:http\://www.cancer.gov/dictionary?CdrID=46432] +subset: DO_cancer_slim +is_a: DOID:14384 ! parietal lobe neoplasm +created_by: lschriml +creation_date: 2014-10-08T16:00:54Z + +[Term] +id: DOID:0050904 +name: salivary gland carcinoma +def: "A salivary gland cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Salivary_gland_neoplasm, url:http\://www.cancer.gov/dictionary?CdrID=45963] +subset: DO_cancer_slim +is_a: DOID:8850 ! salivary gland cancer +created_by: lschriml +creation_date: 2014-10-08T16:52:58Z + +[Term] +id: DOID:0050905 +name: inflammatory myofibroblastic tumor +def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23091756] +is_a: DOID:3350 ! mesenchymal cell neoplasm +created_by: lschriml +creation_date: 2014-10-09T14:18:08Z + +[Term] +id: DOID:0050906 +name: conjunctival nevus +def: "A sensory organ benign neoplasm that is located in the eye conjunctiva." [url:http\://en.wikipedia.org/wiki/Conjunctiva, url:http\://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors] +is_a: DOID:0060096 ! sensory organ benign neoplasm +created_by: lschriml +creation_date: 2014-10-13T11:47:25Z + +[Term] +id: DOID:0050907 +name: mixed extragonadal germ cell cancer +def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, url:http\://www.cancer.gov/dictionary?CdrID=444993] +subset: DO_cancer_slim +is_a: DOID:3306 ! mixed germ cell cancer +created_by: lschriml +creation_date: 2014-10-13T12:37:37Z + +[Term] +id: DOID:0050908 +name: myelodysplastic syndrome +def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266] +subset: DO_cancer_slim +xref: ICD10:D46 +xref: ICD10CM:D46 +xref: ICD10CM:D46.9 +xref: ICD9:238.7 +xref: ICD9CM:238.75 +xref: MSH:D009190 +xref: NCI:C3247 +xref: SNOMEDCT_US_2015_03_01:109995007 +xref: SNOMEDCT_US_2015_03_01:109999001 +xref: SNOMEDCT_US_2015_03_01:128623006 +xref: SNOMEDCT_US_2015_03_01:188736006 +xref: SNOMEDCT_US_2015_03_01:189508006 +xref: SNOMEDCT_US_2015_03_01:189515003 +xref: SNOMEDCT_US_2015_03_01:190229005 +xref: SNOMEDCT_US_2015_03_01:25707000 +xref: SNOMEDCT_US_2015_03_01:393565000 +xref: SNOMEDCT_US_2015_03_01:4227006 +xref: UMLS_CUI:C0026986 +xref: UMLS_CUI:C2713368 +is_a: DOID:4960 ! bone marrow cancer +created_by: lschriml +creation_date: 2014-10-13T12:51:33Z + +[Term] +id: DOID:0050909 +name: MALT lymphoma +def: "A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production." [url:http\://www.cancer.gov/dictionary?CdrID=45774] +subset: DO_cancer_slim +synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [] +is_a: DOID:0060060 ! non-Hodgkin lymphoma +created_by: lschriml +creation_date: 2014-10-13T14:17:40Z + +[Term] +id: DOID:0050910 +name: cecum adenoma +def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma] +synonym: "caecum adenoma" EXACT [] +is_a: DOID:1517 ! cecal benign neoplasm +created_by: lschriml +creation_date: 2014-10-13T14:41:01Z + +[Term] +id: DOID:0050911 +name: appendix carcinoid tumor +def: "An appendix cancer that has_material_basis_in neurodendocrine cells." [url:http\://en.wikipedia.org/wiki/Carcinoid, url:http\://www.cancer.gov/dictionary?CdrID=44233] +subset: DO_cancer_slim +synonym: "appendix carcinoid endocrine tumour" EXACT [] +is_a: DOID:11239 ! appendix cancer +created_by: lschriml +creation_date: 2014-10-13T14:45:41Z + +[Term] +id: DOID:0050912 +name: colon adenoma +def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Colorectal_adenoma, url:http\://www.cancer.gov/dictionary?CdrID=46217] +is_a: DOID:235 ! colonic benign neoplasm +created_by: lschriml +creation_date: 2014-10-13T14:56:27Z + +[Term] +id: DOID:0050913 +name: large intestine adenocarcinoma +def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin." [url:http\://www.cancer.gov/dictionary?CdrID=46216] +subset: DO_cancer_slim +is_a: DOID:5672 ! large intestine cancer +created_by: lschriml +creation_date: 2014-10-13T15:00:10Z + +[Term] +id: DOID:0050914 +name: large intestine adenoma +def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine." [url:http\://en.wikipedia.org/wiki/Adenoma] +is_a: DOID:4610 ! intestinal benign neoplasm +created_by: lschriml +creation_date: 2014-10-13T15:07:10Z + +[Term] +id: DOID:0050915 +name: rectum adenoma +def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum." [url:http\://en.wikipedia.org/wiki/Adenoma] +is_a: DOID:1984 ! rectal neoplasm +created_by: lschriml +creation_date: 2014-10-13T15:09:51Z + +[Term] +id: DOID:0050916 +name: bronchus mucoepidermoid carcinoma +def: "A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma, url:http\://oralcancerfoundation.org/facts/rare/mc/] +subset: DO_cancer_slim +is_a: DOID:1325 ! bronchus cancer +created_by: lschriml +creation_date: 2014-10-13T15:13:54Z + +[Term] +id: DOID:0050917 +name: lung combined type small cell adenocarcinoma +def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin." [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45327, url:http\://www.cancer.gov/dictionary?CdrID=46216] +subset: DO_cancer_slim +is_a: DOID:5421 ! lung combined type small cell carcinoma +created_by: lschriml +creation_date: 2014-10-13T15:36:11Z + +[Term] +id: DOID:0050918 +name: vaginal carcinoma +def: "A vaginal cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +is_a: DOID:119 ! vaginal cancer +created_by: lschriml +creation_date: 2014-10-21T11:37:19Z + +[Term] +id: DOID:0050919 +name: trachea mucoepidermoid carcinoma +def: "A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] +subset: DO_cancer_slim +is_a: DOID:4876 ! trachea carcinoma +created_by: lschriml +creation_date: 2014-10-21T11:42:42Z + +[Term] +id: DOID:0050920 +name: tonsil squamous cell carcinoma +def: "A tonsil cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +is_a: DOID:8858 ! tonsil cancer +created_by: lschriml +creation_date: 2014-10-21T11:48:00Z + +[Term] +id: DOID:0050921 +name: pharynx squamous cell carcinoma +def: "A pharynx cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +is_a: DOID:0060119 ! pharynx cancer +created_by: lschriml +creation_date: 2014-10-21T11:54:00Z + +[Term] +id: DOID:0050922 +name: gastrointestinal carcinoma +def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +is_a: DOID:3119 ! gastrointestinal system cancer +created_by: lschriml +creation_date: 2014-10-21T11:56:36Z + +[Term] +id: DOID:0050923 +name: spindle epithelial tumor with thymus-like differentiation tumor +def: "A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19417583, url:http\://www.ncbi.nlm.nih.gov/pubmed/2050369, url:http\://www.pathologyoutlines.com/topic/thyroidsettle.html, url:http\://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext] +subset: DO_cancer_slim +synonym: "SETTLE tumor" EXACT [] +is_a: DOID:3963 ! thyroid carcinoma +created_by: lschriml +creation_date: 2014-10-21T12:26:31Z + +[Term] +id: DOID:0050924 +name: striated muscle rhabdoid tumor +def: "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm." [url:http\://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour, url:http\://www.cancer.gov/dictionary?CdrID=46139] +subset: DO_cancer_slim +is_a: DOID:4045 ! muscle cancer +created_by: lschriml +creation_date: 2014-10-21T12:38:23Z + +[Term] +id: DOID:0050925 +name: small intestine carcinoid neuroendocrine tumor +def: "A small intestine cancer that has_material_basis_in cells of the neuroendocrine system." [url:http\://en.wikipedia.org/wiki/Carcinoid] +subset: DO_cancer_slim +is_a: DOID:10154 ! small intestine cancer +created_by: lschriml +creation_date: 2014-10-21T12:58:08Z + +[Term] +id: DOID:0050926 +name: jejunal adenocarcinoma +def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +is_a: DOID:13499 ! jejunal cancer +created_by: lschriml +creation_date: 2014-10-21T13:00:15Z + +[Term] +id: DOID:0050927 +name: duodenum adenoma +def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma] +is_a: DOID:1737 ! duodenal benign neoplasm +created_by: lschriml +creation_date: 2014-10-21T13:02:15Z + +[Term] +id: DOID:0050928 +name: ovarian melanoma +def: "An ovarian cancer that has_material_basis_in melanoctyes." [url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/, url:http\://www.ncbi.nlm.nih.gov/pubmed/15166669] +subset: DO_cancer_slim +is_a: DOID:2394 ! ovarian cancer +created_by: lschriml +creation_date: 2014-10-21T13:27:44Z + +[Term] +id: DOID:0050929 +name: mucosal melanoma +def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic] +subset: DO_cancer_slim +is_a: DOID:1909 ! melanoma +created_by: lschriml +creation_date: 2014-10-21T13:51:49Z + +[Term] +id: DOID:0050930 +name: sublingual gland adenoid cystic carcinoma +def: "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] +subset: DO_cancer_slim +is_a: DOID:8849 ! sublingual gland cancer +created_by: lschriml +creation_date: 2014-10-21T14:04:40Z + +[Term] +id: DOID:0050931 +name: parotid gland adenoid cystic carcinoma +def: "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:http\://en.wikipedia.org/wiki/Parotid_gland] +subset: DO_cancer_slim +is_a: DOID:9036 ! parotid gland cancer +created_by: lschriml +creation_date: 2014-10-21T14:09:29Z + +[Term] +id: DOID:0050932 +name: lung mucoepidermoid carcinoma +def: "A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] +subset: DO_cancer_slim +is_a: DOID:3905 ! lung carcinoma +created_by: lschriml +creation_date: 2014-10-21T15:13:36Z + +[Term] +id: DOID:0050933 +name: ovarian serous carcinoma +def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid." [url:http\://en.wikipedia.org/wiki/Serous_carcinoma] +subset: DO_cancer_slim +is_a: DOID:4001 ! ovarian carcinoma +created_by: lschriml +creation_date: 2014-10-21T15:51:41Z + +[Term] +id: DOID:0050934 +name: ovarian clear cell carcinoma +def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells." [url:http\://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma] +subset: DO_cancer_slim +synonym: "clear-cell ovarian carcinoma" EXACT [] +is_a: DOID:4001 ! ovarian carcinoma +created_by: lschriml +creation_date: 2014-10-21T15:54:52Z + +[Term] +id: DOID:0050935 +name: cervical neuroblastoma +def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://link.springer.com/article/10.1007%2Fs12070-007-0083-5, url:http\://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487, url:http\://www.ncbi.nlm.nih.gov/pubmed/15390353, url:http\://www.ncbi.nlm.nih.gov/pubmed/9262064] +subset: DO_cancer_slim +is_a: DOID:371 ! extracranial neuroblastoma +created_by: lschriml +creation_date: 2014-10-21T16:02:01Z + +[Term] +id: DOID:0050936 +name: extra-adrenal pheochromocytoma +def: "An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin." [url:http\://en.wikipedia.org/wiki/Pheochromocytoma] +subset: DO_cancer_slim +is_a: DOID:5719 ! adrenal medulla cancer +created_by: lschriml +creation_date: 2014-10-22T10:25:45Z + +[Term] +id: DOID:0050937 +name: retroperitoneal neuroblastoma +def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://en.wiktionary.org/wiki/retroperitoneal] +subset: DO_cancer_slim +is_a: DOID:5875 ! retroperitoneal cancer +created_by: lschriml +creation_date: 2014-10-22T11:18:01Z + +[Term] +id: DOID:0050938 +name: breast lobular carcinoma +def: "A breast carcinoma that derives_from breast lobules (milk glands)." [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416] +subset: DO_cancer_slim +is_a: DOID:3459 ! breast carcinoma +created_by: lschriml +creation_date: 2014-10-22T13:05:34Z + +[Term] +id: DOID:0050939 +name: uterine corpus endometrial carcinoma +def: "A uterine corpus cancer that is derived_from the inner lining of the uterus." [url:http\://cancergenome.nih.gov/cancersselected/endometrial] +subset: DO_cancer_slim +is_a: DOID:9460 ! uterine corpus cancer +created_by: lschriml +creation_date: 2014-10-22T14:26:22Z + +[Term] +id: DOID:0050940 +name: endocervical adenocarcinoma +def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12207781] +subset: DO_cancer_slim +is_a: DOID:7519 ! endocervical carcinoma +created_by: lschriml +creation_date: 2014-10-24T15:51:48Z + +[Term] +id: DOID:0050941 +name: spastic ataxia 2 +subset: DO_MGI_slim +xref: OMIM:611302 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050942 +name: spastic ataxia 3 +subset: DO_MGI_slim +xref: OMIM:611390 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050943 +name: spastic ataxia 4 +subset: DO_MGI_slim +xref: OMIM:613672 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050944 +name: spastic ataxia 5 +subset: DO_MGI_slim +xref: OMIM:614487 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050945 +name: spastic ataxia 7 +subset: DO_MGI_slim +xref: OMIM:108650 +is_a: DOID:0050952 ! spastic ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050946 +name: Charlevoix-Saguenay spastic ataxia +subset: DO_MGI_slim +xref: OMIM:270550 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-09-18T14:13:49Z + +[Term] +id: DOID:0050947 +name: hereditary hypophosphatemic rickets with hypercalciuria +def: "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain." [url:http\://www.omim.org/entry/241530?search=241530&highlight=241530, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple] +subset: DO_MGI_slim +xref: OMIM:241530 +is_a: DOID:10609 ! rickets +created_by: lschriml +creation_date: 2015-10-01T12:10:26Z + +[Term] +id: DOID:0050948 +name: autosomal dominant hypophosphatemic rickets +def: "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance." [url:http\://www.ncbi.nlm.nih.gov/pubmed/26365554, url:http\://www.omim.org/entry/193100?search=193100&highlight=193100] +subset: DO_MGI_slim +xref: OMIM:193100 +is_a: DOID:10609 ! rickets +created_by: lschriml +creation_date: 2015-10-01T12:10:30Z + +[Term] +id: DOID:0050949 +name: autosomal recessive hypophosphatemic rickets +def: "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [url:http\://www.omim.org/entry/241520?search=241520&highlight=241520, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple] +subset: DO_MGI_slim +xref: OMIM:241520 +xref: OMIM:613312 +is_a: DOID:10609 ! rickets +created_by: lschriml +creation_date: 2015-10-01T12:10:33Z + +[Term] +id: DOID:0050950 +name: autosomal recessive cerebellar ataxia +def: "A hereditary ataxia that has_material_basis_in autosomal recessive inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/] +is_a: DOID:0050951 ! hereditary ataxia +created_by: lschriml +creation_date: 2015-10-05T14:21:08Z + +[Term] +id: DOID:0050951 +name: hereditary ataxia +def: "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138] +is_a: DOID:1289 ! neurodegenerative disease +created_by: lschriml +creation_date: 2015-10-05T14:38:17Z + +[Term] +id: DOID:0050952 +name: spastic ataxia +is_a: DOID:0050951 ! hereditary ataxia +created_by: lschriml +creation_date: 2015-10-05T14:39:34Z + +[Term] +id: DOID:0050953 +name: X-linked hereditary ataxia +is_a: DOID:0050951 ! hereditary ataxia +created_by: lschriml +creation_date: 2015-10-05T15:41:09Z + +[Term] +id: DOID:0050954 +name: spinocerebellar ataxia type 1 +xref: OMIM:164400 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:07:27Z + +[Term] +id: DOID:0050955 +name: spinocerebellar ataxia type 2 +xref: OMIM:183090 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:07:27Z + +[Term] +id: DOID:0050956 +name: spinocerebellar ataxia type 6 +xref: OMIM:183086 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:07:27Z + +[Term] +id: DOID:0050957 +name: spinocerebellar ataxia type 4 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:07:27Z + +[Term] +id: DOID:0050958 +name: spinocerebellar ataxia type 7 +xref: OMIM:164500 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:07:27Z + +[Term] +id: DOID:0050959 +name: spinocerebellar ataxia type 8 +xref: OMIM:608768 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050960 +name: spinocerebellar ataxia type 10 +xref: OMIM:603516 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050961 +name: spinocerebellar ataxia type 11 +xref: OMIM:604432 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050962 +name: spinocerebellar ataxia type 12 +xref: OMIM:604326 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050963 +name: spinocerebellar ataxia type 13 +xref: OMIM:605259 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050964 +name: spinocerebellar ataxia type 14 +xref: OMIM:605361 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050965 +name: spinocerebellar ataxia type 15 +xref: OMIM:606658 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050966 +name: spinocerebellar ataxia type 16 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050967 +name: spinocerebellar ataxia type 17 +xref: OMIM:607136 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050968 +name: autosomal dominant cerebellar ataxia, deafness and narcolepsy +xref: OMIM:604121 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-05T16:12:39Z + +[Term] +id: DOID:0050969 +name: spinocerebellar ataxia type 18 +xref: OMIM:607458 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050970 +name: spinocerebellar ataxia type 19/22 +xref: OMIM:607346 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050971 +name: spinocerebellar ataxia type 20 +xref: OMIM:608687 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050972 +name: spinocerebellar ataxia type 21 +xref: OMIM:607454 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050973 +name: spinocerebellar ataxia type 23 +xref: OMIM:610245 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050974 +name: spinocerebellar ataxia type 25 +xref: OMIM:608703 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050975 +name: spinocerebellar ataxia type 26 +xref: OMIM:609306 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050976 +name: spinocerebellar ataxia type 27 +xref: OMIM:609307 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050977 +name: spinocerebellar ataxia type 28 +xref: OMIM:610246 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050978 +name: spinocerebellar ataxia type 29 +xref: OMIM:117360 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050979 +name: spinocerebellar ataxia type 30 +xref: OMIM:613371 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050980 +name: spinocerebellar ataxia type 31 +xref: OMIM:117210 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050981 +name: spinocerebellar ataxia type 34 +xref: OMIM:133190 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050982 +name: spinocerebellar ataxia type 35 +xref: OMIM:613908 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050983 +name: spinocerebellar ataxia type 36 +xref: OMIM:614153 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050984 +name: spinocerebellar ataxia type 37 +xref: OMIM:615945 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050985 +name: spinocerebellar ataxia type 38 +xref: OMIM:615957 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050986 +name: spinocerebellar ataxia type 40 +xref: OMIM:616053 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:11:07Z + +[Term] +id: DOID:0050987 +name: hypomyelinating leukoencephalopathy +xref: OMIM:612438 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:24:06Z + +[Term] +id: DOID:0050988 +name: GRID2-related spinocerebellar ataxia +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-06T16:24:06Z + +[Term] +id: DOID:0050989 +name: episodic ataxia type 1 +xref: OMIM:160120 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050990 +name: episodic ataxia type 2 +xref: OMIM:108500 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050991 +name: episodic ataxia type 3 +xref: OMM:606554 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050992 +name: episodic ataxia type 4 +xref: OMIM:606552 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050993 +name: episodic ataxia type 5 +xref: OMIM:613855 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050994 +name: episodic ataxia type 6 +xref: OMIM:612656 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050995 +name: episodic ataxia type 7 +xref: OMIM:611907 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-06T16:26:26Z + +[Term] +id: DOID:0050996 +name: episodic ataxia type 8 +xref: OMIM:616055 +is_a: DOID:963 ! episodic ataxia +created_by: lschriml +creation_date: 2015-10-07T13:38:56Z + +[Term] +id: DOID:0050997 +name: cerebellar ataxia, mental retardation and dysequlibrium syndrome +def: "An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.omim.org/entry/224050?search=224050&highlight=224050, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple] +synonym: "CAMRQ" EXACT [] +xref: OMIM:224050 +xref: OMIM:610185 +xref: OMIM:613227 +xref: OMIM:615268 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T13:48:09Z + +[Term] +id: DOID:0050998 +name: nonprogressive cerebellar atxia with mental retardation +xref: OMIM:614756 +is_a: DOID:0050753 ! cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:08:24Z + +[Term] +id: DOID:0050999 +name: autosomal recessive spinocerebellar ataxia 10 +synonym: "SCAR10" EXACT [] +xref: OMIM:613728 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:43:23Z + +[Term] +id: DOID:0060000 +name: infective endocarditis +def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents." [url:http\://en.wikipedia.org/wiki/Infective_endocarditis, url:http\://wn.wikipedia.org/wiki/Endocarditis] +is_a: DOID:10314 ! endocarditis + +[Term] +id: DOID:0060001 +name: withdrawal disorder +def: "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol." [url:http\://en.wikipedia.org/wiki/Withdrawal] +is_a: DOID:303 ! substance-related disorder + +[Term] +id: DOID:0060002 +name: C1 inhibitor deficiency +def: "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue." [ls:IEDB, url:http\://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease] +synonym: "Quincke edema" EXACT [] +is_a: DOID:626 ! complement deficiency + +[Term] +id: DOID:0060004 +name: autoimmune disease of central nervous system +def: "An autoimmune disease of the central nervous system." [ls:IEDB] +is_a: DOID:438 ! autoimmune disease of the nervous system + +[Term] +id: DOID:0060005 +name: autoimmune disease of endocrine system +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060006 +name: artemis deficiency +def: "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA." [url:http\://en.wikipedia.org/wiki/DCLRE1C] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060007 +name: CD3zeta deficiency +def: "A severe combined immunodeficiency that affects the development and function of T cells." [url:http\://bioinf.uta.fi/CD247base/] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060008 +name: janus kinase-3 deficiency +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060009 +name: MHC class I deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "bare lymphocyte syndrome type I" EXACT [] +synonym: "BLS, TYPE I" EXACT [] +synonym: "BLSI" EXACT [] +synonym: "HLA CLASS I DEFICIENCY" EXACT [] +xref: OMIM:604571 +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060010 +name: Omenn syndrome +def: "A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:0060011 +name: recombinase activating gene 1 deficiency +def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://bioinf.uta.fi/RAG1base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060012 +name: recombinase activating gene 2 deficiency +def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://bioinf.uta.fi/RAG2base/, url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060013 +name: gamma chain deficiency +alt_id: DOID:5811 +def: "A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "SCID-X1" EXACT [] +synonym: "thymic epithelial hypoplasia" EXACT [] +synonym: "X-Linked Severe Combined Immunodeficiency" EXACT [NCI2004_11_17:C4682] +synonym: "XSCID" EXACT [] +xref: MSH:D053632 +xref: NCI:C4682 +xref: OMIM:300400 +xref: SNOMEDCT_US_2015_03_01:203592006 +xref: SNOMEDCT_US_2015_03_01:234569003 +xref: UMLS_CUI:C1279481 +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060014 +name: CD45 deficiency +def: "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age." [url:http\://bioinf.uta.fi/xml/idr/ff/FF6.xml] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060015 +name: interleukin-7 receptor alpha deficiency +def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." [url:http\://bioinf.uta.fi/IL7Rbase/] +synonym: "IL-7R" EXACT [] +synonym: "IL7R" RELATED [] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060016 +name: CD3delta deficiency +def: "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development." [url:http\://bioinf.uta.fi/CD3Dbase/] +synonym: "CD3D" EXACT [] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060017 +name: CD3epsilon deficiency +def: "A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex." [url:http\://bioinf.uta.fi/CD3Ebase/] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060018 +name: CD3gamma deficiency +def: "A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected." [url:http\://bioinf.uta.fi/CD3Gbase/] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060019 +name: coronin-1A deficiency +def: "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed] +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060020 +name: reticular dysgenesis +alt_id: DOID:1226 +def: "A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "aleukocytosis" RELATED [] +synonym: "De Vaal disease" EXACT [] +xref: MSH:C538361 +xref: NCI:C27070 +xref: OMIM:267500 +xref: SNOMEDCT_US_2015_03_01:111584000 +xref: UMLS_CUI:C0272167 +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:0060021 +name: DNA ligase IV deficiency +def: "A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay." [url:http\://omim.org/entry/606593, url:http\://www.ncbi.nlm.nih.gov/gene/3981] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "LIG4 Syndrome" EXACT [] +xref: OMIM:606593 +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:0060022 +name: CD40 ligand deficiency +def: "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE." [url:http\://bioinf.uta.fi/CD40Lbase/, url:http\://content.karger.com/ProdukteDB/produkte.asp?Doi=236923] +synonym: "HIGMX-1" EXACT [] +synonym: "X-linked hyper-IgM syndrome" EXACT [] +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:0060023 +name: CD40 deficiency +def: "A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation." [url:http\://bioinf.uta.fi/CD40base/] +synonym: "type 3 hyper-IgM immunodeficiency " EXACT [] +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:0060024 +name: lambda 5 deficiency +def: "A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage." [url:http\://bioinf.uta.fi/IGLL1base/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, url:http\://www.ncbi.nlm.nih.gov/gene/3543?] +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:0060025 +name: immunoglobulin alpha deficiency +def: "A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor." [url:http\://bioinf.uta.fi/CD79Abase/, url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, url:http\://www.ncbi.nlm.nih.gov/gene/973?] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "gamma-A-globulin deficiency" EXACT [] +synonym: "IgA deficiency" EXACT [] +xref: MSH:D017098 +xref: OMIM:137100 +xref: OMIM:269650 +xref: OMIM:609529 +xref: ORDO:69127 +xref: SNOMEDCT_US_2015_03_01:29260007 +xref: UMLS_CUI:C0162538 +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:0060026 +name: immunoglobulin beta deficiency +synonym: "IgB deficiency" RELATED [] +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:0060027 +name: B cell linker protein deficiency +def: "A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." [url:http\://bioinf.uta.fi/BLNKbase/, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, url:http\://www.ncbi.nlm.nih.gov/gene/2] +synonym: "B-cell linker protein deficiency" EXACT [] +synonym: "BLNK deficiency" EXACT [] +is_a: DOID:2583 ! agammaglobulinemia + +[Term] +id: DOID:0060028 +name: Good syndrome +def: "An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma." [url:http\://en.wikipedia.org/wiki/Good_syndrome, url:http\://icvts.ctsnetjournals.org/cgi/reprint/9/4/750] +synonym: "thymoma with hypogammaglobulinemia" EXACT [] +is_a: DOID:2583 ! agammaglobulinemia + +[Term] +id: DOID:0060029 +name: autoimmune disease of exocrine system +def: "An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060030 +name: autoimmune disease of eyes, ear, nose and throat +def: "A hypersensitivity reaction type II disease of the eyes, ears, nose and throat." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060031 +name: autoimmune disease of gastrointestinal tract +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060032 +name: autoimmune disease of musculoskeletal system +def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060033 +name: autoimmune disease of peripheral nervous system +def: "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system." [ls:IEDB] +is_a: DOID:438 ! autoimmune disease of the nervous system + +[Term] +id: DOID:0060035 +name: medical disorder +def: "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Diseases#Disorder, url:http\://www.medilexicon.com/medicaldictionary.php?t=25959] +is_obsolete: true + +[Term] +id: DOID:0060036 +name: intrinsic cardiomyopathy +def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause." [url:http\://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html] +is_a: DOID:0050700 ! cardiomyopathy + +[Term] +id: DOID:0060037 +name: developmental disorder of mental health +def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [url:http\://en.wikipedia.org/wiki/Developmental_disorders] +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:0060038 +name: specific developmental disorder +def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [url:http\://en.wikipedia.org/wiki/Specific_developmental_disorder] +is_a: DOID:0060037 ! developmental disorder of mental health + +[Term] +id: DOID:0060039 +name: autoimmune disease of skin and connective tissue +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060040 +name: pervasive developmental disorder +alt_id: DOID:1208 +def: "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors." [url:http\://www.ninds.nih.gov/disorders/pdd/pdd.htm] +synonym: "pervasive development disorder" EXACT [] +xref: ICD9CM:299.80 +xref: UMLS_CUI:C0154451 +is_a: DOID:0060037 ! developmental disorder of mental health + +[Term] +id: DOID:0060041 +name: autism spectrum disorder +def: "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." [url:http\://en.wikipedia.org/wiki/Autism_spectrum_disorder, url:www.neurodevnet.ca] +is_a: DOID:0060040 ! pervasive developmental disorder + +[Term] +id: DOID:0060042 +name: atypical autism +def: "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism." [url:http\://counsellingresource.com/distress/autistic/autism-atypical.html, url:http\://www.wisegeek.com/what-is-atypical-autism.htm, url:www.neurodevnet.ca] +synonym: "PDD NOS" EXACT [] +is_a: DOID:0060041 ! autism spectrum disorder + +[Term] +id: DOID:0060043 +name: sexual disorder +def: "A disease of mental health that involves the impairment in normal sexual functioning." [url:http\://allpsych.com/disorders/sexual/index.html] +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:0060044 +name: paraphilia disorder +is_a: DOID:0060043 ! sexual disorder + +[Term] +id: DOID:0060045 +name: Munchausen by proxy +def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [url:http\://en.wikipedia.org/wiki/Munchausen_by_proxy] +is_a: DOID:1766 ! factitious disorder + +[Term] +id: DOID:0060046 +name: aphasia +def: "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." [url:http\://en.wikipedia.org/wiki/Aphasia] +is_a: DOID:93 ! language disorder + +[Term] +id: DOID:0060047 +name: writing disorder +def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] +is_a: DOID:8927 ! learning disability + +[Term] +id: DOID:0060048 +name: nosophobia +def: "A specific phobia that involves an irrational fear of contracting a disease." [url:http\://en.wikipedia.org/wiki/Nosophobia] +is_a: DOID:599 ! specific phobia + +[Term] +id: DOID:0060049 +name: autoimmune disease of urogenital tract +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060050 +name: autoimmune disease of blood +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060051 +name: autoimmune disease of cardiovascular system +def: "A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system." [ls:IEDB] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:0060052 +name: neurological disorder +def: "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness." [ls:IEDB] +is_obsolete: true + +[Term] +id: DOID:0060053 +name: peripheral neuropathy +def: "A neuropathy that is located_in nerves of the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Sensory_neuropathy] +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:0060054 +name: autonomic peripheral neuropathy +is_a: DOID:0060053 ! peripheral neuropathy + +[Term] +id: DOID:0060055 +name: popliteal pterygium syndrome +def: "An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1." [ISBN:0-7216-2921-0, PMID:2352260, PMID:4384166, url:http\://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https\://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "facio-genito-popliteal syndrome" EXACT [] +synonym: "popliteal web syndrome" EXACT [] +xref: MSH:C562509 +xref: OMIM:119500 +xref: OMIM:263650 +xref: ORDO:1300 +xref: ORDO:294963 +xref: SNOMEDCT_US_2015_03_01:205820002 +xref: SNOMEDCT_US_2015_03_01:66783006 +xref: UMLS_CUI:C0265259 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: emitraka +creation_date: 2015-02-04T14:16:39Z + +[Term] +id: DOID:0060056 +name: hypersensitivity reaction disease +def: "An immune system disease that is caused by abnormal immune responses." [url:http\://en.wikipedia.org/wiki/Hypersensitivity, url:http\://physio.ucsf.edu/GEMS/courses/Immunology/materials/fa13_essential_immunology/090313_hypersensitivity_defranco.pdf, url:http\://www.ncbi.nlm.nih.gov/books/NBK27136/] +is_a: DOID:2914 ! immune system disease + +[Term] +id: DOID:0060057 +name: gluten allergic reaction +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:0060058 +name: lymphoma +alt_id: DOID:1033 +alt_id: DOID:353 +def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs." [url:http\://en.wikipedia.org/wiki/Lymphoma, url:http\://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161, url:http\://www.nlm.nih.gov/medlineplus/lymphoma.html] +subset: DO_cancer_slim +synonym: "lymphoid cancer" EXACT [] +xref: ICD10CM:C85.9 +xref: MSH:D008223 +xref: NCI:C3208 +xref: NCI:C7065 +xref: SNOMEDCT_US_2015_03_01:115244002 +xref: SNOMEDCT_US_2015_03_01:118600007 +xref: SNOMEDCT_US_2015_03_01:134218000 +xref: SNOMEDCT_US_2015_03_01:188676008 +xref: SNOMEDCT_US_2015_03_01:188694002 +xref: SNOMEDCT_US_2015_03_01:188695001 +xref: SNOMEDCT_US_2015_03_01:188704004 +xref: SNOMEDCT_US_2015_03_01:189959002 +xref: SNOMEDCT_US_2015_03_01:189965002 +xref: SNOMEDCT_US_2015_03_01:21964009 +xref: SNOMEDCT_US_2015_03_01:269627002 +xref: SNOMEDCT_US_2015_03_01:414628006 +xref: UMLS_CUI:C0024299 +xref: UMLS_CUI:C0598798 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:0060060 +name: non-Hodgkin lymphoma +def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." [url:http\://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45148] +comment: OMIM mapping confirmed by DO. [LS]. +xref: OMIM:605027 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:0060061 +name: cutaneous T cell lymphoma +def: "A non-Hodgkin's lymphoma that is caused by a mutation of T cells." [url:http\://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma] +is_a: DOID:0050749 ! peripheral T-cell lymphoma + +[Term] +id: DOID:0060062 +name: familial juvenile hyperuricemic nephropathy +def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21060763] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +xref: OMIM:162000 +xref: OMIM:613092 +xref: OMIM:614227 +xref: ORDO:209886 +xref: ORDO:217330 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:0060063 +name: X-linked sideroblastic anemia +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "XLSA" EXACT [] +xref: OMIM:300751 +is_a: DOID:8955 ! sideroblastic anemia + +[Term] +id: DOID:0060064 +name: sideroblastic anemia with spinocerebellar ataxia +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "ASAT" EXACT [] +xref: OMIM:310310 +is_a: DOID:8955 ! sideroblastic anemia + +[Term] +id: DOID:0060065 +name: pyridoxine-refractory autosomal recessive sideroblastic anemia +comment: OMIM mapping confirmed by DO. [LS]. +xref: OMIM:205950 +is_a: DOID:8955 ! sideroblastic anemia + +[Term] +id: DOID:0060066 +name: pyridoxine-responsive sideroblastic anemia +comment: OMIM mapping confirmed by DO. [LS]. +xref: OMIM:206000 +is_a: DOID:8955 ! sideroblastic anemia + +[Term] +id: DOID:0060067 +name: Pearson syndrome +def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction." [url:http\://en.wikipedia.org/wiki/Pearson_syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Pearson Marrow-Pancreas Syndrome" EXACT [] +xref: OMIM:557000 +is_a: DOID:700 ! mitochondrial metabolism disease + +[Term] +id: DOID:0060068 +name: marantic endocarditis +def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets." [url:http\://en.wikipedia.org/wiki/Marantic_endocarditis] +synonym: "non-bacterial thrombotic endocarditis" EXACT [] +is_a: DOID:10314 ! endocarditis +created_by: lschriml +creation_date: 2011-04-13T03:14:26Z + +[Term] +id: DOID:0060069 +name: Bacillus cereus pneumonia +is_obsolete: true +created_by: lschriml +creation_date: 2011-04-15T11:41:26Z + +[Term] +id: DOID:0060071 +name: pre-malignant neoplasm +def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [url:http\://en.wikipedia.org/wiki/Neoplasm] +is_a: DOID:14566 ! disease of cellular proliferation +created_by: lschriml +creation_date: 2011-05-11T12:18:41Z + +[Term] +id: DOID:0060072 +name: benign neoplasm +def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize." [url:http\://en.wikipedia.org/wiki/Benign_neoplasm, url:http\://www.nlm.nih.gov/medlineplus/benigntumors.html] +is_a: DOID:14566 ! disease of cellular proliferation +created_by: lschriml +creation_date: 2011-05-11T12:18:41Z + +[Term] +id: DOID:0060073 +name: lymphatic system cancer +def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue." [url:http\://en.wikipedia.org/wiki/Lymphatic_system] +is_a: DOID:0060083 ! immune system cancer +created_by: lschriml +creation_date: 2011-05-11T01:05:14Z + +[Term] +id: DOID:0060074 +name: ductal carcinoma in situ +is_a: DOID:8791 ! breast carcinoma in situ +created_by: lschriml +creation_date: 2011-06-08T12:19:28Z + +[Term] +id: DOID:0060075 +name: estrogen-receptor positive breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060076 +name: estrogen-receptor negative breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060077 +name: progesterone-receptor positive breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060078 +name: progesterone-receptor negative breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060079 +name: Her2-receptor positive breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060080 +name: Her2-receptor negative breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060081 +name: triple-receptor negative breast cancer +is_a: DOID:1612 ! breast cancer +created_by: lschriml +creation_date: 2011-06-08T12:23:02Z + +[Term] +id: DOID:0060082 +name: breast benign neoplasm +is_a: DOID:0060097 ! thoracic benign neoplasm +created_by: lschriml +creation_date: 2011-06-08T01:02:29Z + +[Term] +id: DOID:0060083 +name: immune system cancer +def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system] +is_a: DOID:0050686 ! organ system cancer +created_by: lschriml +creation_date: 2011-06-08T01:11:18Z + +[Term] +id: DOID:0060084 +name: cell type benign neoplasm +def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived." [url:http\://en.wikipedia.org/wiki/Benign_tumor] +is_a: DOID:0060072 ! benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T11:59:48Z + +[Term] +id: DOID:0060085 +name: organ system benign neoplasm +def: "A benign neoplasm that is classified by the organ system from which it is arising from." [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367] +is_a: DOID:0060072 ! benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T12:12:23Z + +[Term] +id: DOID:0060086 +name: female reproductive organ benign neoplasm +is_a: DOID:0050622 ! reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T12:20:52Z + +[Term] +id: DOID:0060087 +name: male reproductive organ benign neoplasm +is_a: DOID:0050622 ! reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T12:20:52Z + +[Term] +id: DOID:0060088 +name: vestibular gland benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T12:36:54Z + +[Term] +id: DOID:0060089 +name: endocrine organ benign neoplasm +def: "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." [url:http\://en.wikipedia.org/wiki/Endocrine_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T01:45:15Z + +[Term] +id: DOID:0060090 +name: central nervous system organ benign neoplasm +is_a: DOID:0060115 ! nervous system benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T01:45:15Z + +[Term] +id: DOID:0060091 +name: cardiovascular organ benign neoplasm +def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system." [url:http\://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T01:45:15Z + +[Term] +id: DOID:0060092 +name: immune system organ benign neoplasm +def: "An organ system benign neoplasm located_in the immune system organs." [url:http\://en.wikipedia.org/wiki/Immune_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-14T01:58:49Z + +[Term] +id: DOID:0060094 +name: bone benign neoplasm +def: "A connective tissue benign neoplasm that is located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_tumor] +is_a: DOID:0060123 ! connective tissue benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T01:34:59Z + +[Term] +id: DOID:0060095 +name: uterine benign neoplasm +alt_id: DOID:0060113 +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T01:42:11Z + +[Term] +id: DOID:0060096 +name: sensory organ benign neoplasm +def: "A nervous system benign neoplasm that is located_in a sensory organ." [url:http\://en.wikipedia.org/wiki/Sensory_system] +is_a: DOID:0060115 ! nervous system benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T01:45:26Z + +[Term] +id: DOID:0060097 +name: thoracic benign neoplasm +def: "An organ system benign neoplam that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T01:55:57Z + +[Term] +id: DOID:0060098 +name: osteoblastoma +is_a: DOID:0060094 ! bone benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T02:14:40Z + +[Term] +id: DOID:0060099 +name: musculoskeletal system benign neoplasm +def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-15T02:28:52Z + +[Term] +id: DOID:0060100 +name: musculoskeletal system cancer +alt_id: DOID:0060124 +def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders] +synonym: "skeletal system cancer" EXACT [] +is_a: DOID:0050686 ! organ system cancer +created_by: lschriml +creation_date: 2011-07-15T02:30:51Z + +[Term] +id: DOID:0060101 +name: benign glioma +def: "A cell type benign neoplasm that has_material_basis_in glial cells." [url:http\://www.cancer.gov/dictionary?CdrID=45700] +is_a: DOID:0060084 ! cell type benign neoplasm +created_by: lschriml +creation_date: 2011-07-19T01:27:04Z + +[Term] +id: DOID:0060102 +name: cartilage cancer +is_a: DOID:201 ! connective tissue cancer +created_by: lschriml +creation_date: 2011-07-20T01:40:49Z + +[Term] +id: DOID:0060103 +name: central nervous system primitive neuroectodermal neoplasm +is_a: DOID:3620 ! central nervous system cancer +created_by: lschriml +creation_date: 2011-07-21T02:24:10Z + +[Term] +id: DOID:0060104 +name: cerebellar medulloblastoma +def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma] +subset: DO_cancer_slim +is_a: DOID:4205 ! cerebellum cancer +created_by: lschriml +creation_date: 2011-07-21T02:28:01Z + +[Term] +id: DOID:0060106 +name: brain meningioma +is_a: DOID:1319 ! brain cancer +created_by: lschriml +creation_date: 2011-07-21T05:39:28Z + +[Term] +id: DOID:0060108 +name: brain glioma +def: "A brain cancer that has_material_basis_in glial cells." [url:http\://cancergenome.nih.gov/cancersselected/lowergradeglioma, url:http\://www.cancer.gov/dictionary?CdrID=45700] +subset: DO_cancer_slim +synonym: "lower grade glioma" EXACT [] +is_a: DOID:1319 ! brain cancer +created_by: lschriml +creation_date: 2011-07-22T12:42:50Z + +[Term] +id: DOID:0060109 +name: vulvar benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T11:50:50Z + +[Term] +id: DOID:0060110 +name: cervical benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T11:50:50Z + +[Term] +id: DOID:0060111 +name: fallopian tube benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T11:50:50Z + +[Term] +id: DOID:0060112 +name: ovarian benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T11:50:50Z + +[Term] +id: DOID:0060114 +name: vaginal benign neoplasm +is_a: DOID:0060086 ! female reproductive organ benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T11:50:50Z + +[Term] +id: DOID:0060115 +name: nervous system benign neoplasm +def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T12:47:43Z + +[Term] +id: DOID:0060116 +name: sensory system cancer +def: "A nervous system cancer that is located_in the sensory system." [url:http\://en.wikipedia.org/wiki/Sensory_system] +is_a: DOID:3093 ! nervous system cancer +created_by: lschriml +creation_date: 2011-07-25T01:51:56Z + +[Term] +id: DOID:0060117 +name: peritoneal benign neoplasm +def: "An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom." [url:http\://en.wikipedia.org/wiki/Peritoneal] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-25T02:20:33Z + +[Term] +id: DOID:0060118 +name: thoracic disease +def: "A disease of anatomical entity that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] +is_a: DOID:7 ! disease of anatomical entity +created_by: lschriml +creation_date: 2011-07-25T02:23:47Z + +[Term] +id: DOID:0060119 +name: pharynx cancer +def: "A gastrointestinal system cancer that is located_in the pharynx." [url:http\://en.wikipedia.org/wiki/Pharynx] +subset: TopNodes_DOcancerslim +synonym: "pharyngeal cancer" RELATED [] +synonym: "pharyngeal neoplasm" EXACT [] +synonym: "pharynx neoplasm" EXACT [] +xref: MSH:D010610 +xref: NCI:C3325 +xref: SNOMEDCT_US_2015_03_01:126685009 +xref: SNOMEDCT_US_2015_03_01:95001001 +xref: UMLS_CUI:C0031347 +is_a: DOID:3119 ! gastrointestinal system cancer +created_by: lschriml +creation_date: 2011-07-27T01:26:34Z + +[Term] +id: DOID:0060120 +name: skeletal system benign neoplasm +is_obsolete: true +created_by: lschriml +creation_date: 2011-07-27T01:46:00Z + +[Term] +id: DOID:0060121 +name: integumentary system benign neoplasm +def: "An organ system benign neoplasm located_in the integumentary system organs." [url:http\://en.wikipedia.org/wiki/Integumentary_system] +is_a: DOID:0060085 ! organ system benign neoplasm +created_by: lschriml +creation_date: 2011-07-27T01:49:44Z + +[Term] +id: DOID:0060122 +name: integumentary system cancer +def: "An organ system cancer that is located_in the skin, hair and nails." [url:http\://en.wikipedia.org/wiki/Integumentary_system] +is_a: DOID:0050686 ! organ system cancer +created_by: lschriml +creation_date: 2011-07-27T02:31:34Z + +[Term] +id: DOID:0060123 +name: connective tissue benign neoplasm +alt_id: DOID:177 +def: "A musculoskeletal system benign neoplasm that is located_in connective tissue." [url:http\://en.wikipedia.org/wiki/Connective_tissue_neoplasm] +synonym: "neoplasm of soft tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:387837005] +synonym: "neoplasm of soft tissues (disorder)" EXACT [SNOMEDCT_2005_07_31:126600002] +synonym: "soft tissue benign neoplasm" EXACT [] +synonym: "tumor of the soft tissue" EXACT [NCI2004_11_17:C3377] +xref: MSH:D012983 +xref: NCI:C3377 +xref: SNOMEDCT_US_2015_03_01:126600002 +xref: SNOMEDCT_US_2015_03_01:387837005 +xref: UMLS_CUI:C0037579 +is_a: DOID:0060099 ! musculoskeletal system benign neoplasm +created_by: lschriml +creation_date: 2011-07-27T02:35:57Z + +[Term] +id: DOID:0060125 +name: heavy chain disease +def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] +xref: ICD10CM:C88.2 +xref: MSH:D006362 +xref: NCI:C3082 +xref: NCI:C3083 +xref: NCI:C3892 +xref: SNOMEDCT_US_2015_03_01:109984001 +xref: SNOMEDCT_US_2015_03_01:123062004 +xref: SNOMEDCT_US_2015_03_01:190011009 +xref: SNOMEDCT_US_2015_03_01:190820001 +xref: SNOMEDCT_US_2015_03_01:5440009 +xref: SNOMEDCT_US_2015_03_01:61493004 +xref: SNOMEDCT_US_2015_03_01:6381009 +xref: SNOMEDCT_US_2015_03_01:68979007 +xref: UMLS_CUI:C0018852 +xref: UMLS_CUI:C0018854 +xref: UMLS_CUI:C0242310 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease +created_by: lschriml +creation_date: 2011-08-22T11:23:09Z + +[Term] +id: DOID:0060126 +name: alpha chain disease +def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] +synonym: "Seligmann's disease" EXACT [] +is_a: DOID:0060125 ! heavy chain disease +created_by: lschriml +creation_date: 2011-08-22T11:23:09Z + +[Term] +id: DOID:0060127 +name: gamma heavy chain disease +def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG)." [url:http\://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx] +synonym: "Franklin's disease" EXACT [] +is_a: DOID:0060125 ! heavy chain disease +created_by: lschriml +creation_date: 2011-08-22T11:23:09Z + +[Term] +id: DOID:0060128 +name: mu chain disease +def: "A heavy chain disease that results from an overproduction of mu antibody (IgM)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] +is_a: DOID:0060125 ! heavy chain disease +created_by: lschriml +creation_date: 2011-08-22T11:23:09Z + +[Term] +id: DOID:0060129 +name: delta chain disease +def: "A heavy chain disease that results from an overproduction of delta antibody (IgD)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] +is_a: DOID:0060125 ! heavy chain disease +created_by: lschriml +creation_date: 2011-08-22T11:23:09Z + +[Term] +id: DOID:0060130 +name: akinetopsia +def: "An agnosia that is a loss of motion perception." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060131 +name: alexithymia +def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060132 +name: amusia +def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." [url:http\://en.wikipedia.org/wiki/Agnosia] +synonym: "receptive amusia" EXACT [] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060133 +name: anosognosia +def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060134 +name: apperceptive agnosia +def: "An agnosia that is a loss of the ability to distinguish visual shapes." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060135 +name: apraxia +def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060136 +name: associative agnosia +def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060137 +name: auditory agnosia +def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060138 +name: autotopagnosia +def: "An agnosia that is a loss of the ability to orient parts of the body." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060139 +name: color agnosia +def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060140 +name: cortical deafness +def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060141 +name: finger agnosia +def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060142 +name: form agnosia +def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060143 +name: integrative agnosia +def: "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060144 +name: mirror agnosia +def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060145 +name: pain agnosia +def: "An agnosia that is a loss of the ability to perceive and process pain." [url:http\://en.wikipedia.org/wiki/Agnosia] +synonym: "analgesia" EXACT [] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060146 +name: phonagnosia +def: "An agnosia that is a loss of the ability to recognize familiar voices." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060147 +name: semantic agnosia +def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060148 +name: simultanagnosia +def: "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060149 +name: social emotional agnosia +def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." [url:http\://en.wikipedia.org/wiki/Agnosia] +synonym: "expressive agnosia" EXACT [] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060150 +name: astereognosia +def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [url:http\://en.wikipedia.org/wiki/Agnosia] +synonym: "somatosensory agnosia" EXACT [] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060151 +name: tactile agnosia +def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060152 +name: time agnosia +def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060153 +name: topographical agnosia +def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:0060155 ! visual agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060154 +name: verbal auditory agnosia +def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060155 +name: visual agnosia +def: "An agnosia that is a loss of the ability to visually recognize objects." [url:http\://en.wikipedia.org/wiki/Agnosia] +xref: MSH:C531604 +xref: UMLS_CUI:C2930796 +is_a: DOID:4090 ! agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060156 +name: visual verbal agnosia +def: "An agnosia that is a loss of the ability to comprehending the meaning of written words." [url:http\://en.wikipedia.org/wiki/Agnosia] +is_a: DOID:0060155 ! visual agnosia +created_by: lschriml +creation_date: 2011-08-22T12:04:56Z + +[Term] +id: DOID:0060157 +name: diffuse alopecia areata +def: "An alopecia areata that involves diffuse loss of hair over the whole scalp." [url:http\://en.wikipedia.org/wiki/Alopecia_areata] +xref: MSH:C531609 +xref: SNOMEDCT_US_2015_03_01:201138007 +xref: SNOMEDCT_US_2015_03_01:403331000 +xref: UMLS_CUI:C0406458 +xref: UMLS_CUI:C1274706 +xref: UMLS_CUI:C1862862 +xref: UMLS_CUI:C2936778 +xref: UMLS_CUI:C3179487 +xref: UMLS_CUI:C3179488 +xref: UMLS_CUI:C3179489 +is_a: DOID:986 ! alopecia areata +created_by: lschriml +creation_date: 2011-08-22T03:45:02Z + +[Term] +id: DOID:0060158 +name: acquired metabolic disease +def: "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] +is_a: DOID:0014667 ! disease of metabolism +created_by: lschriml +creation_date: 2011-08-24T02:53:03Z + +[Term] +id: DOID:0060159 +name: organic acidemia +def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids." [url:http\://en.wikipedia.org/wiki/Aciduria] +synonym: "organic acid metabolism disorder" EXACT [] +synonym: "organic aciduria" EXACT [] +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2011-08-26T11:17:14Z + +[Term] +id: DOID:0060160 +name: survival motor neuron spinal muscular atrophy +def: "A spinal muscular atrophy that is associated with the survival of motor neuron protein." [url:http\://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy] +synonym: "spinal muscular atrophies of childhood" EXACT [] +xref: ICD10CM:G12.0 +xref: ICD9CM:335.0 +xref: ICD9CM:335.11 +xref: MSH:D014897 +xref: NCI:C85076 +xref: NCI:C98670 +xref: SNOMEDCT_US_2015_03_01:128212001 +xref: SNOMEDCT_US_2015_03_01:155016008 +xref: SNOMEDCT_US_2015_03_01:267694009 +xref: SNOMEDCT_US_2015_03_01:54280009 +xref: SNOMEDCT_US_2015_03_01:64383006 +xref: UMLS_CUI:C0043116 +xref: UMLS_CUI:C0152109 +xref: UMLS_CUI:C0393538 +xref: UMLS_CUI:C0700595 +is_a: DOID:12377 ! spinal muscular atrophy +created_by: lschriml +creation_date: 2011-08-29T01:15:14Z + +[Term] +id: DOID:0060161 +name: Kennedy's disease +def: "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor." [url:http\://en.wikipedia.org/wiki/Kennedy_disease] +synonym: "Kennedy disease" EXACT [] +synonym: "SBMA" EXACT [] +synonym: "spinal bulbar muscular atrophy" EXACT [] +synonym: "Spinobulbar Muscular Atrophy" EXACT [] +synonym: "X-Linked Bulbo-Spinal Atrophy" EXACT [] +synonym: "X-linked Spinal and Bulbar Muscular Atrophy" EXACT [] +xref: MSH:D055534 +xref: NCI:C85233 +xref: OMIM:313200 +xref: SNOMEDCT_US_2015_03_01:230253001 +xref: UMLS_CUI:C1839259 +is_a: DOID:12377 ! spinal muscular atrophy +created_by: lschriml +creation_date: 2011-08-29T01:31:03Z + +[Term] +id: DOID:0060162 +name: dentatorubral-pallidoluysian atrophy +def: "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein." [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy] +synonym: "DRPLA" EXACT [] +synonym: "Haw River Syndrome" EXACT [] +synonym: "Naito-Oyanagi disease" EXACT [] +xref: MSH:D020191 +xref: NCI:C7636 +xref: OMIM:125370 +xref: SNOMEDCT_US_2015_03_01:192844008 +xref: SNOMEDCT_US_2015_03_01:267581004 +xref: SNOMEDCT_US_2015_03_01:68116008 +xref: SNOMEDCT_US_2015_03_01:702422004 +xref: SNOMEDCT_US_2015_03_01:89480000 +xref: UMLS_CUI:C0751776 +xref: UMLS_CUI:C0751777 +xref: UMLS_CUI:C0751778 +xref: UMLS_CUI:C0751779 +xref: UMLS_CUI:C0751780 +xref: UMLS_CUI:C0751781 +xref: UMLS_CUI:C0751782 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia +created_by: lschriml +creation_date: 2011-08-29T01:41:48Z + +[Term] +id: DOID:0060163 +name: body dysmorphic disorder +def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)." [url:http\://en.wikipedia.org/wiki/Body_dysmorphic_disorder] +synonym: "body dysmorphia" EXACT [] +synonym: "dysmorphic syndrome" EXACT [] +synonym: "dysmorphophobia" EXACT [] +is_a: DOID:4737 ! somatoform disorder +created_by: lschriml +creation_date: 2011-09-07T01:38:34Z + +[Term] +id: DOID:0060164 +name: pain disorder +def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress." [url:http\://en.wikipedia.org/wiki/Pain_disorder] +is_a: DOID:4737 ! somatoform disorder +created_by: lschriml +creation_date: 2011-09-07T01:42:46Z + +[Term] +id: DOID:0060165 +name: Kleine-Levin syndrome +def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior." [url:http\://en.wikipedia.org/wiki/Kleine-Levin_syndrome] +is_a: DOID:8619 ! recurrent hypersomnia +created_by: lschriml +creation_date: 2011-09-07T02:46:02Z + +[Term] +id: DOID:0060166 +name: bipolar ll disorder +def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [url:http\://en.wikipedia.org/wiki/Bipolar_II] +is_a: DOID:3312 ! bipolar disorder +created_by: lschriml +creation_date: 2011-09-09T02:27:46Z + +[Term] +id: DOID:0060167 +name: seasonal affective disorder +def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year." [url:http\://en.wikipedia.org/wiki/Seasonal_affective_disorder] +synonym: "winter depression" EXACT [] +is_a: DOID:1596 ! mental depression +created_by: lschriml +creation_date: 2011-09-09T02:53:18Z + +[Term] +id: DOID:0060168 +name: histidinemia +def: "A histidine metabolism disease that involves a deficiency of the enzyme histidase." [url:http\://en.wikipedia.org/wiki/Histidinemia] +synonym: "histidinuria" EXACT [] +is_a: DOID:9265 ! histidine metabolism disease +created_by: lschriml +creation_date: 2011-09-20T12:47:05Z + +[Term] +id: DOID:0060169 +name: benign familial infantile epilepsy +def: "An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12503648] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "benign familial infantile convulsion" EXACT [] +synonym: "benign familial infantile seizures" EXACT [] +synonym: "BFIC" EXACT [] +synonym: "BFIE " EXACT [] +xref: OMIM:601764 +xref: OMIM:605751 +xref: OMIM:607745 +xref: OMIM:612627 +xref: ORDO:306 +is_a: DOID:0050703 ! infancy electroclinical syndrome +created_by: lschriml +creation_date: 2011-10-28T02:55:02Z + +[Term] +id: DOID:0060170 +name: generalized epilepsy with febrile seizures plus +def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22011963] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "GEFS+" EXACT [] +xref: ICD10CM:G40.3 +xref: OMIM:604233 +xref: OMIM:604403 +xref: OMIM:609800 +xref: OMIM:611277 +xref: OMIM:612279 +xref: OMIM:613828 +xref: OMIM:613863 +xref: ORDO:36387 +is_a: DOID:1827 ! idiopathic generalized epilepsy +created_by: lschriml +creation_date: 2011-10-28T02:57:50Z + +[Term] +id: DOID:0060171 +name: Dravet Syndrome +def: "An epilepsy that is characterized by frequent febrile seizures with onset before 1 year." [url:http\://dravet.org/about-dravet/smei, url:http\://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm] +synonym: "severe myoclonic epilepsy in infancy" EXACT [] +synonym: "SMEI" EXACT [] +xref: OMIM:607208 +is_a: DOID:0050703 ! infancy electroclinical syndrome +created_by: lschriml +creation_date: 2011-10-28T03:14:46Z + +[Term] +id: DOID:0060172 +name: juvenile absence epilepsy +def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures." [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] +is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome +created_by: lschriml +creation_date: 2011-11-08T10:42:18Z + +[Term] +id: DOID:0060173 +name: Timothy syndrome +def: "An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/] +is_a: DOID:0050736 ! autosomal dominant disease +created_by: lschriml +creation_date: 2011-11-08T12:52:33Z + +[Term] +id: DOID:0060174 +name: GABA aminotransferase deficiency +def: "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde." [url:http\://pathman.smpdb.ca/pathways/SMP00351/pathway, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] +synonym: "Gamma-amino butyric acid transaminase deficiency" EXACT [] +synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [] +xref: OMIM:613163 +is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder +created_by: lschriml +creation_date: 2011-11-08T01:52:22Z + +[Term] +id: DOID:0060175 +name: succinic semialdehyde dehydrogenase deficiency +def: "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid." [url:http\://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism] +synonym: "4-hydroxybutyric aciduria" EXACT [] +synonym: "gamma-hydroxybutyric aciduria" EXACT [] +synonym: "SSADH" EXACT [] +is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder +created_by: lschriml +creation_date: 2011-11-08T02:02:12Z + +[Term] +id: DOID:0060176 +name: gamma-amino butyric acid metabolism disorder +def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12891648] +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: lschriml +creation_date: 2011-11-08T02:02:12Z + +[Term] +id: DOID:0060177 +name: homocarnosinosis +def: "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine." [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] +is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder +created_by: lschriml +creation_date: 2011-11-08T02:02:12Z + +[Term] +id: DOID:0060178 +name: familial hemiplegic migraine +def: "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness." [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:G43.8 +xref: ICD9CM:346.8 +xref: OMIM:141500 +xref: OMIM:300125 +xref: OMIM:602481 +xref: OMIM:607516 +xref: OMIM:609634 +xref: ORDO:569 +xref: SNOMEDCT_US_2015_03_01:193037008 +xref: SNOMEDCT_US_2015_03_01:193040008 +xref: SNOMEDCT_US_2015_03_01:194493009 +xref: UMLS_CUI:C0477373 +is_a: DOID:10024 ! migraine with aura +created_by: lschriml +creation_date: 2011-11-08T02:54:32Z + +[Term] +id: DOID:0060179 +name: Renpenning syndrome +def: "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males." [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome] +xref: OMIM:309500 +is_a: DOID:0050888 ! syndromic intellectual disability +created_by: lschriml +creation_date: 2011-11-08T03:21:30Z + +[Term] +id: DOID:0060180 +name: colitis +def: "An inflammatory bowel disease that involves inflammation located_in colon." [url:http\://en.wikipedia.org/wiki/Colitis] +xref: EFO:0003872 +xref: ICD10CM:K52.9 +xref: MSH:D003092 +xref: NCI:C26723 +xref: OMIM:191390 +xref: SNOMEDCT:64226004 +xref: SNOMEDCT_US_2015_03_01:64226004 +xref: UMLS_CUI:C0009319 +is_a: DOID:0050589 ! inflammatory bowel disease +created_by: emitraka +creation_date: 2014-09-12T14:31:45Z + +[Term] +id: DOID:0060181 +name: ischemic colitis +def: "A colitis caused_by inadequate blood supply to the colon." [url:http\://en.wikipedia.org/wiki/Ischemic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677] +xref: CTV3:X303v +xref: ICD10CM:K55.9 +xref: MSH:D017091 +xref: SNOMEDCT:30588004 +xref: SNOMEDCT_US_2015_03_01:30588004 +xref: UMLS_CUI:C0162529 +is_a: DOID:0060180 ! colitis +created_by: emitraka +creation_date: 2014-09-12T14:36:51Z + +[Term] +id: DOID:0060182 +name: microscopic colitis +def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232] +xref: CTV3:X303w +xref: MSH:D046728 +xref: NCI:C38504 +xref: ORDO:58220 +xref: SNOMEDCT:235753003 +xref: SNOMEDCT_US_2015_03_01:235753003 +xref: UMLS_CUI:C0400821 +is_a: DOID:0060180 ! colitis +created_by: emitraka +creation_date: 2014-09-12T14:49:18Z + +[Term] +id: DOID:0060183 +name: collagenous colitis +def: "A colitis characterized by a distinctive thickening of the subepithelial collagen table." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Collagenous_colitis] +comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. +xref: ICD10CM:K52.89 +xref: MEDDRA:10048928 +xref: MSH:D046729 +xref: NCI:C27021 +xref: SNOMEDCT:19311003 +xref: SNOMEDCT_US_2015_03_01:19311003 +xref: UMLS_CUI:C0238067 +is_a: DOID:0060182 ! microscopic colitis +created_by: emitraka +creation_date: 2014-09-12T14:56:28Z + +[Term] +id: DOID:0060184 +name: lymphocytic colitis +def: "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx, url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis] +comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. +xref: ICD10CM:K52.89 +xref: MEDDRA:10025268 +xref: MSH:D046730 +xref: NCI:C27147 +xref: ORDO:65279 +xref: SNOMEDCT_US_2015_03_01:31437008 +xref: UMLS_CUI:C0400822 +is_a: DOID:0060182 ! microscopic colitis +created_by: emitraka +creation_date: 2014-09-12T14:58:50Z + +[Term] +id: DOID:0060185 +name: Clostridium difficile colitis +def: "A colitis characterized by an overgrowth of Clostridium difficile bacteria." [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm] +synonym: "Pseudomembranous colitis" EXACT [MSH:D004761] +xref: ICD10CM:A04.7 +xref: MEDDRA:10009657 +xref: MSH:D004761 +xref: SNOMEDCT:423590009 +xref: SNOMEDCT_US_2015_03_01:155783000 +xref: SNOMEDCT_US_2015_03_01:197019008 +xref: SNOMEDCT_US_2015_03_01:197033008 +xref: SNOMEDCT_US_2015_03_01:197124009 +xref: SNOMEDCT_US_2015_03_01:235752008 +xref: SNOMEDCT_US_2015_03_01:266525002 +xref: SNOMEDCT_US_2015_03_01:397683000 +xref: SNOMEDCT_US_2015_03_01:397696004 +xref: SNOMEDCT_US_2015_03_01:51180003 +xref: UMLS_CUI:C0014358 +xref: UMLS_CUI:C0085819 +xref: UMLS_CUI:C1257843 +xref: UMLS_CUI:C1257844 +xref: UMLS_CUI:C1257845 +is_a: DOID:0060180 ! colitis +created_by: emitraka +creation_date: 2014-09-12T15:01:17Z + +[Term] +id: DOID:0060186 +name: chemical colitis +def: "A colitis caused_by introduction of various chemicals." [url:http\://en.wikipedia.org/wiki/Chemical_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/18209577] +xref: ICD10CM:K52 +xref: ICD9CM:558 +xref: ICD9CM:558.9 +xref: SNOMEDCT:72965009 +xref: UMLS_CUI:C0029512 +is_a: DOID:0060180 ! colitis +created_by: emitraka +creation_date: 2014-09-12T15:08:50Z + +[Term] +id: DOID:0060187 +name: diversion colitis +def: "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy." [url:http\://en.wikipedia.org/wiki/Diversion_colitis, url:http\://www.ncbi.nlm.nih.gov/pubmed/1916483] +xref: ICD10CM:K52 +xref: ICD9CM:558 +xref: ICD9CM:558.9 +xref: SNOMEDCT:51290000 +xref: UMLS_CUI:C0029512 +is_a: DOID:0060180 ! colitis +created_by: emitraka +creation_date: 2014-09-12T15:14:29Z + +[Term] +id: DOID:0060188 +name: jejunoileitis +def: "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15973125] +xref: ICD10CM:K50.0 +is_a: DOID:8778 ! Crohn's disease +created_by: emitraka +creation_date: 2014-09-15T10:51:02Z + +[Term] +id: DOID:0060189 +name: ileitis +def: "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss." [url:http\://en.wikipedia.org/wiki/Ileitis, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] +synonym: "Crohn's ileitis" EXACT [] +xref: CSP:1248-5305 +xref: CTV3:X302s +xref: ICD10CM:K52.9 +xref: MEDDRA:10021312 +xref: MSH:D007079 +xref: NCI:C84782 +xref: NDFRT:N0000001662 +xref: SNOMEDCT:52457000 +xref: SNOMEDCT_US_2015_03_01:52457000 +xref: UMLS_CUI:C0020877 +xref: WHO:1316 +is_a: DOID:8778 ! Crohn's disease +created_by: emitraka +creation_date: 2014-09-15T11:40:07Z + +[Term] +id: DOID:0060190 +name: ileocolitis +def: "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part." [url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] +comment: OWL classification. +xref: ICD10CM:K52.9 +xref: MEDDRA:10062647 +is_a: DOID:8778 ! Crohn's disease +created_by: emitraka +creation_date: 2014-09-15T12:22:19Z + +[Term] +id: DOID:0060191 +name: gastroduodenal Crohn's disease +def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/12769447] +synonym: "upper GI Crohn's disease" EXACT [] +xref: ICD10CM:K50.0 +is_a: DOID:8778 ! Crohn's disease +created_by: emitraka +creation_date: 2014-09-15T12:35:28Z + +[Term] +id: DOID:0060192 +name: Crohn's colitis +def: "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:http\://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html] +comment: OWL classification. +xref: ICD10CM:K50.911 +xref: ICD10CM:K50.913 +xref: ICD10CM:K50.914 +is_a: DOID:8778 ! Crohn's disease +created_by: emitraka +creation_date: 2014-09-15T12:50:24Z + +[Term] +id: DOID:0060193 +name: amyotrophic lateral sclerosis type 1 +def: "The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] +synonym: "ALS1" EXACT [OMIM:105400] +synonym: "amyotrophic lateral sclerosis 1" EXACT [OMIM:105400] +xref: OMIM:105400 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T13:04:32Z + +[Term] +id: DOID:0060194 +name: amyotrophic lateral sclerosis type 2 +def: "A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100] +synonym: "ALS2" EXACT [OMIM:205100] +synonym: "amyotrophic lateral sclerosis 2" EXACT [OMIMl:205100] +synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [OMIM:205100] +xref: OMIM:205100 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T13:12:14Z + +[Term] +id: DOID:0060195 +name: amyotrophic lateral sclerosis type 3 +def: "A type of ALS with loci associated with the disease located_in chromosome 18." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640] +synonym: "ALS3" RELATED [OMIM:606640] +synonym: "amyotrophic lateral sclerosis 3" EXACT [OMIM:606640] +xref: OMIM:606640 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T13:18:38Z + +[Term] +id: DOID:0060196 +name: amyotrophic lateral sclerosis type 4 +def: "A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433] +synonym: "ALS 4" EXACT [OMIM:602433] +synonym: "amyotrophic lateral sclerosis 4" EXACT [OMIM:602433] +synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [OMIM:602433] +synonym: "dHMN with upper motor neuron signs" EXACT [ORDO:357043] +synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [OMIM:602433] +synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [ORDO:357043] +xref: OMIM:602433 +xref: ORDO:357043 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T13:49:59Z + +[Term] +id: DOID:0060197 +name: amyotrophic lateral sclerosis type 5 +def: "A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099] +synonym: "ALS5" EXACT [OMIM:602099] +synonym: "amyotrophic lateral sclerosis 5" EXACT [OMIM:602099] +xref: OMIM:602099 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:17:01Z + +[Term] +id: DOID:0060198 +name: amyotrophic lateral sclerosis type 6 +def: "A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030] +synonym: "ALS6" EXACT [OMIM:608030] +synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [OMIM:608030] +synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [OMIM:608030] +xref: OMIM:608030 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:21:07Z + +[Term] +id: DOID:0060199 +name: amyotrophic lateral sclerosis type 7 +def: "A type of ALS with loci associated with the disease located_in chromosome 20." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031] +synonym: "ALS7" EXACT [OMIM:608031] +synonym: "amyotrophic lateral sclerosis 7" EXACT [OMIM:608031] +xref: OMIM:608031 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:28:41Z + +[Term] +id: DOID:0060200 +name: amyotrophic lateral sclerosis type 9 +def: "A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895] +synonym: "ALS9" EXACT [OMIM:611895] +synonym: "amyotrophic lateral sclerosis 9" EXACT [OMIM:611895] +xref: OMIM:611895 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:33:09Z + +[Term] +id: DOID:0060201 +name: amyotrophic lateral sclerosis type 10 +def: "A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069] +synonym: "ALS10" EXACT [OMIM:612069] +synonym: "amyotrophic lateral sclerosis 10" EXACT [OMIM:612069] +synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [OMIM:612069] +synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" EXACT [OMIM:612069] +xref: OMIM:612069 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:36:54Z + +[Term] +id: DOID:0060202 +name: amyotrophic lateral sclerosis type 11 +def: "A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577] +synonym: "ALS11" EXACT [OMIM:612577] +synonym: "amyotrophic lateral sclerosis 11" EXACT [OMIM:612577] +xref: OMIM:612577 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:49:07Z + +[Term] +id: DOID:0060203 +name: amyotrophic lateral sclerosis type 12 +def: "A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613435] +synonym: "ALS12" EXACT [OMIM:613435] +synonym: "amyotrophic lateral sclerosis 12" EXACT [OMIM:613435] +xref: OMIM:613435 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:53:12Z + +[Term] +id: DOID:0060204 +name: amyotrophic lateral sclerosis type 13 +def: "A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/183090] +comment: An association between 29 or more CAG repeats and the development of ALS13 exists. +synonym: "ALS13" EXACT [OMIM:183090] +synonym: "amyotrophic lateral sclerosis 13" EXACT [OMIM:183090] +xref: OMIM:183090 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T14:56:08Z + +[Term] +id: DOID:0060205 +name: amyotrophic lateral sclerosis type 14 +def: "A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613954] +synonym: "ALS14" EXACT [OMIM:613954] +synonym: "amyotrophic lateral sclerosis 14" EXACT [OMIM:613954] +synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [OMIM:613954] +xref: OMIM:613954 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:02:22Z + +[Term] +id: DOID:0060206 +name: amyotrophic lateral sclerosis type 15 +def: "A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/300857] +comment: Described in one family only. +synonym: "ALS15" EXACT [OMIM:300857] +synonym: "amyotrophic lateral sclerosis 15" EXACT [OMIM:300857] +synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [OMIM:300857] +xref: OMIM:300857 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:12:48Z + +[Term] +id: DOID:0060207 +name: amyotrophic lateral sclerosis type 16 +def: "A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614373] +synonym: "ALS16" EXACT [OMIM:614373] +synonym: "amyotrophic lateral sclerosis 16" EXACT [OMIM:614373] +synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [OMIM:614373] +xref: OMIM:614373 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:17:01Z + +[Term] +id: DOID:0060208 +name: amyotrophic lateral sclerosis type 17 +def: "A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614696] +synonym: "ALS17" EXACT [OMIM:614696] +synonym: "amyotrophic lateral sclerosis 17" EXACT [OMIM:614696] +synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [OMIM:614696] +xref: OMIM:614696 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:20:50Z + +[Term] +id: DOID:0060209 +name: amyotrophic lateral sclerosis type 18 +def: "A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614808] +synonym: "ALS18" EXACT [OMIM:614808] +synonym: "amyotrophic lateral sclerosis 18" EXACT [OMIM:614808] +xref: OMIM:614808 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:24:08Z + +[Term] +id: DOID:0060210 +name: amyotrophic lateral sclerosis type 19 +def: "A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615515] +synonym: "ALS19" EXACT [OMIM:615515] +synonym: "amyotrophic lateral sclerosis 19" EXACT [OMIM:615515] +xref: OMIM:615515 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:30:22Z + +[Term] +id: DOID:0060211 +name: amyotrophic lateral sclerosis type 20 +def: "A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615426] +synonym: "ALS20" EXACT [OMIM:615426] +synonym: "amyotrophic lateral sclerosis 20" EXACT [OMIM:615426] +xref: OMIM:615426 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T15:34:12Z + +[Term] +id: DOID:0060212 +name: amyotrophic lateral sclerosis type 21 +def: "A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5." [url:http\://omim.org/entry/606070] +synonym: "ALS21" EXACT [OMIM:606070] +xref: OMIM:606070 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T16:06:31Z + +[Term] +id: DOID:0060213 +name: FTDALS1 +def: "A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [url:http\://omim.org/entry/105550] +synonym: "ALSFTD" EXACT [OMIM:105550] +synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [OMIM:105550] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [OMIM:105550] +synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [OMIM:105550] +synonym: "FTDMND" EXACT [OMIM:105550] +xref: OMIM:105550 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T16:36:24Z + +[Term] +id: DOID:0060214 +name: FTDALS2 +def: "A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [url:http\://omim.org/entry/615911, url:http\://www.ncbi.nlm.nih.gov/pubmed/24934289] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [OMIM:615911] +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: emitraka +creation_date: 2014-09-16T16:44:08Z + +[Term] +id: DOID:0060215 +name: Balo concentric sclerosis +def: "A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers." [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis] +comment: Similar to standard multiple sclerosis. +synonym: "Balo's concentric sclerosis" EXACT [] +xref: ICD10CM:G31.81 +xref: ICD10CM:G37.0 +xref: ICD9CM:341.1 +xref: MSH:D002549 +xref: NCI:C35257 +xref: NCI:C84670 +xref: SNOMEDCT:230380005 +xref: SNOMEDCT_US_2015_03_01:155059003 +xref: SNOMEDCT_US_2015_03_01:192932009 +xref: SNOMEDCT_US_2015_03_01:192938008 +xref: SNOMEDCT_US_2015_03_01:20415001 +xref: SNOMEDCT_US_2015_03_01:230380005 +xref: SNOMEDCT_US_2015_03_01:267702006 +xref: SNOMEDCT_US_2015_03_01:44875002 +xref: SNOMEDCT_US_2015_03_01:49692006 +xref: UMLS_CUI:C0004712 +xref: UMLS_CUI:C0007795 +xref: UMLS_CUI:C0205710 +is_a: DOID:3213 ! demyelinating disease +created_by: emitraka +creation_date: 2014-09-18T15:02:17Z + +[Term] +id: DOID:0060216 +name: Cogan syndrome +def: "A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue." [url:http\://en.wikipedia.org/wiki/Cogan_syndrome] +comment: OWL also bilateral audiovestibular deficits. +synonym: "Cogan's syndrome" EXACT [ICD10CM:H16.32] +synonym: "diffuse interstitual keratitis" EXACT [ICD10CM:H16.32] +xref: ICD10CM:H16.32 +xref: MSH:D055952 +xref: ORDO:1467 +xref: SNOMEDCT_US_2015_03_01:193785001 +xref: SNOMEDCT_US_2015_03_01:231906002 +xref: SNOMEDCT_US_2015_03_01:26018001 +xref: SNOMEDCT_US_2015_03_01:405810005 +xref: UMLS_CUI:C0271270 +is_a: DOID:5614 ! eye disease +created_by: emitraka +creation_date: 2014-09-22T16:29:20Z + +[Term] +id: DOID:0060217 +name: Cogan-Reese syndrome +def: "A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma." [url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1] +xref: MEDDRA:10059200 +xref: NCI:C84644 +xref: ORDO:98980 +xref: SNOMEDCT_US_2015_03_01:129624009 +xref: SNOMEDCT_US_2015_03_01:404633004 +xref: UMLS_CUI:C1168173 +is_a: DOID:5614 ! eye disease +created_by: emitraka +creation_date: 2014-09-23T12:31:25Z + +[Term] +id: DOID:0060218 +name: CREST syndrome +def: "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia." [url:http\://en.wikipedia.org/wiki/CREST_syndrome] +xref: ICD10CM:M34.1 +xref: MSH:D017675 +xref: NCI:C70646 +xref: OMIM:181750 +xref: SNOMEDCT_US_2015_03_01:156453002 +xref: SNOMEDCT_US_2015_03_01:201442004 +xref: SNOMEDCT_US_2015_03_01:31848007 +xref: SNOMEDCT_US_2015_03_01:62382002 +xref: UMLS_CUI:C0206138 +xref: UMLS_CUI:C1527226 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2014-09-24T16:30:36Z + +[Term] +id: DOID:0060219 +name: lymph node adenoid cystic carcinoma +def: "A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." [url:http\://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109, url:http\://www.oralcancerfoundation.org/facts/rare/ac/] +subset: DO_cancer_slim +synonym: "lymph node adenoid cystic cancer" EXACT [] +is_a: DOID:10619 ! lymph node cancer +created_by: emitraka +creation_date: 2014-11-05T09:11:16Z + +[Term] +id: DOID:0060220 +name: physical urticaria +def: "An urticaria induced by external physical influences." [ISBN:1416029990, url:http\://en.wikipedia.org/wiki/Physical_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] +comment: WD correction. +is_a: DOID:1555 ! urticaria +created_by: emitraka +creation_date: 2014-11-21T15:51:38Z + +[Term] +id: DOID:0060221 +name: Maffucci syndrome +def: "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas." [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome] +comment: WD former synonym. +xref: ICD10CM:Q78.4 +xref: OMIM:614569 +xref: ORDO:163634 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2014-11-26T11:16:24Z + +[Term] +id: DOID:0060222 +name: Scheie syndrome +def: "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan." [url:http\://en.wikipedia.org/wiki/Scheie_syndrome] +comment: WD former synonym. +synonym: "mucopolysaccharidosis type 1S" EXACT [] +synonym: "mucopolysaccharidosis type IS" EXACT [] +synonym: "mucopolysaccharidosis type V" EXACT [] +xref: ICD10CM:E76.0 +xref: OMIM:607016 +xref: ORDO:93474 +is_a: DOID:12798 ! mucopolysaccharidosis +created_by: emitraka +creation_date: 2014-11-26T11:32:20Z + +[Term] +id: DOID:0060223 +name: agraphia +def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [url:http\://en.wikipedia.org/wiki/Agraphia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21507544] +xref: ICD10CM:R48.8 +is_a: DOID:0060047 ! writing disorder +created_by: emitraka +creation_date: 2014-11-26T11:44:01Z + +[Term] +id: DOID:0060224 +name: atrial fibrillation +def: "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain." [url:http\://en.wikipedia.org/wiki/Atrial_fibrillation, url:http\://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/af] +synonym: "A-fib" EXACT [] +xref: HP:0005110 +xref: ICD9CM:427.31 +xref: MSH:D001281 +xref: NCI:C50466 +xref: SNOMEDCT_US_2015_03_01:155364009 +xref: SNOMEDCT_US_2015_03_01:266306001 +xref: SNOMEDCT_US_2015_03_01:49436004 +xref: UMLS_CUI:C0004238 +is_a: DOID:10273 ! heart conduction disease +created_by: emitraka +creation_date: 2015-01-16T14:55:21Z + +[Term] +id: DOID:0060225 +name: 3MC syndrome +def: "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16096999] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "craniofacial-ulnar-renal syndrome" EXACT [] +synonym: "oculopalatoskeletal syndrome " EXACT [] +xref: ICD10CM:Q87.8 +xref: OMIM:248340 +xref: OMIM:257920 +xref: OMIM:265050 +xref: ORDO:293843 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-16T15:08:40Z + +[Term] +id: DOID:0060226 +name: acrofrontofacionasal dysostosis +def: "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure." [url:http\://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, url:http\://www.ncbi.nlm.nih.gov/pubmed/2986457] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "AFFN dysostosis" EXACT [] +synonym: "Richieri-Costa-Colletto syndrome" EXACT [] +xref: MSH:C538186 +xref: OMIM:201180 +xref: OMIM:239710 +xref: ORDO:1784 +xref: UMLS_CUI:C1860118 +is_a: DOID:1934 ! dysostosis +created_by: emitraka +creation_date: 2015-01-16T15:39:56Z + +[Term] +id: DOID:0060227 +name: Adams-Oliver syndrome +def: "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs." [PMID:18000904, url:http\://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http\://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Adams Oliver syndrome" EXACT [] +xref: ICD10CM:Q87.2 +xref: MSH:C538225 +xref: OMIM:100300 +xref: OMIM:614219 +xref: OMIM:614814 +xref: OMIM:615297 +xref: OMIM:616028 +xref: SNOMEDCT_US_2015_03_01:34748004 +xref: UMLS_CUI:C0265268 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-16T15:48:40Z + +[Term] +id: DOID:0060228 +name: intracranial berry aneurysm +def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [url:http\://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, url:http\://radiopaedia.org/articles/saccular-cerebral-aneurysm, url:http\://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [] +synonym: "familial berry aneurysm" EXACT [] +synonym: "familial intracranial saccular aneurysm" EXACT [] +synonym: "saccular cerebral aneurysm " EXACT [] +xref: HP:0007029 +xref: ICD10CM:I60.7 +xref: OMIM:105800 +xref: OMIM:300870 +xref: OMIM:608542 +xref: OMIM:609122 +xref: OMIM:610213 +xref: OMIM:611892 +xref: OMIM:612161 +xref: OMIM:612162 +xref: OMIM:612586 +xref: OMIM:612587 +xref: OMIM:614252 +xref: ORDO:231160 +is_a: DOID:10941 ! intracranial aneurysm +created_by: emitraka +creation_date: 2015-01-16T16:24:39Z + +[Term] +id: DOID:0060229 +name: Baraitser-Winter syndrome +def: "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present." [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q87.0 +xref: OMIM:243310 +xref: OMIM:614583 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-16T16:52:25Z + +[Term] +id: DOID:0060230 +name: basal ganglia calcification +def: "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills." [url:http\://en.wikipedia.org/wiki/Fahr%27s_syndrome, url:http\://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract] +comment: NT MGI. +synonym: "childhood-onset idiopathic basal ganglia calcification" EXACT [] +synonym: "Fahr disease" EXACT [] +synonym: "idiopathic basal ganglia calcification" EXACT [] +xref: HP:0002135 +xref: MSH:C536275 +xref: OMIM:114100 +xref: OMIM:213600 +xref: OMIM:606656 +xref: OMIM:615007 +xref: OMIM:615483 +xref: SNOMEDCT_US_2015_03_01:110997000 +xref: UMLS_CUI:C0393590 +is_a: DOID:679 ! basal ganglia disease +created_by: emitraka +creation_date: 2015-01-22T13:09:08Z + +[Term] +id: DOID:0060231 +name: Bruck syndrome +def: "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta." [url:http\://en.wikipedia.org/wiki/Bruck_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/9129737] +comment: NT MGI. +synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [] +xref: ICD10CM:M21.8 +xref: OMIM:259450 +xref: OMIM:609220 +xref: ORDO:2771 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-23T15:12:40Z + +[Term] +id: DOID:0060232 +name: branchiootic syndrome +def: "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22901925, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract] +comment: NT MGI. +synonym: "BO syndrome" EXACT [] +synonym: "BOR" EXACT [] +synonym: "branchiootic dysplasia" EXACT [] +xref: ICD10CM:Q87.0 +xref: OMIM:120502 +xref: OMIM:602588 +xref: OMIM:608389 +xref: ORDO:52429 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-23T15:24:02Z + +[Term] +id: DOID:0060233 +name: cardiofaciocutaneous syndrome +def: "A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes." [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract] +comment: NT MGI. +synonym: "cardio-facial-cutaneous syndrome" EXACT [] +synonym: "CFC syndrome" EXACT [] +xref: ICD10CM:Q87.8 +xref: OMIM:115150 +xref: OMIM:615278 +xref: OMIM:615279 +xref: OMIM:615280 +xref: ORDO:1340 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-23T15:37:07Z + +[Term] +id: DOID:0060234 +name: Carpenter syndrome +def: "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly." [url:http\://en.wikipedia.org/wiki/Carpenter_syndrome, url:http\://ghr.nlm.nih.gov/condition/carpenter-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract] +comment: NT MGI. +synonym: "acrocephalopolysyndactyly type II" EXACT [] +xref: MSH:C563187 +xref: NCI:C98873 +xref: OMIM:201000 +xref: OMIM:614976 +xref: ORDO:65759 +xref: SNOMEDCT_US_2015_03_01:205813009 +xref: SNOMEDCT_US_2015_03_01:403767009 +xref: UMLS_CUI:C1275078 +is_a: DOID:12960 ! acrocephalosyndactylia +created_by: emitraka +creation_date: 2015-01-23T16:06:03Z + +[Term] +id: DOID:0060235 +name: carnitine palmitoyltransferase II deficiency +def: "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria." [url:http\://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, url:http\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency] +comment: NT MGI. +synonym: "CPT-II" EXACT [] +synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [] +synonym: "late-onset carnitine palmitoyltransferase II deficiency" EXACT [] +synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [] +xref: MSH:C535589 +xref: OMIM:255110 +xref: OMIM:600649 +xref: OMIM:608836 +xref: ORDO:157 +xref: SNOMEDCT_US_2015_03_01:238002005 +xref: UMLS_CUI:C0342790 +is_a: DOID:3146 ! lipid metabolism disorder +created_by: emitraka +creation_date: 2015-01-23T16:35:22Z + +[Term] +id: DOID:0060236 +name: xanthinuria +def: "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones." [url:http\://en.wikipedia.org/wiki/Xanthinuria, url:http\://www.ncbi.nlm.nih.gov/pubmed/4369449] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "xanthine dehydrogenase deficiency" EXACT [] +synonym: "xanthine oxidase deficiency" EXACT [] +xref: HP:0010934 +xref: MSH:C562584 +xref: MSH:C566358 +xref: OMIM:278300 +xref: OMIM:603592 +xref: ORDO:3467 +xref: SNOMEDCT_US_2015_03_01:124147007 +xref: SNOMEDCT_US_2015_03_01:72682008 +xref: UMLS_CUI:C0268118 +xref: UMLS_CUI:C1863688 +is_a: DOID:653 ! purine-pyrimidine metabolic disorder +created_by: emitraka +creation_date: 2015-01-27T14:10:42Z + +[Term] +id: DOID:0060237 +name: Warburg micro syndrome +def: "An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism." [url:http\://en.wikipedia.org/wiki/Micro_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/22768674] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "micro syndrome" EXACT [] +synonym: "WARBM" EXACT [] +synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [] +xref: MSH:C536681 +xref: OMIM:600118 +xref: OMIM:614222 +xref: OMIM:614225 +xref: OMIM:615663 +xref: ORDO:2510 +xref: UMLS_CUI:C1838625 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: emitraka +creation_date: 2015-01-27T14:32:30Z + +[Term] +id: DOID:0060238 +name: Van Maldergem syndrome +def: "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1633641] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "cerebro-facio-articular syndrome" EXACT [] +xref: MSH:C536530 +xref: OMIM:601390 +xref: OMIM:615546 +xref: ORDO:314679 +xref: UMLS_CUI:C1832390 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-27T15:42:05Z + +[Term] +id: DOID:0060239 +name: Van der Woude syndrome +def: "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone." [url:http\://en.wikipedia.org/wiki/Van_der_Woude_syndrome, url:http\://ghr.nlm.nih.gov/condition/van-der-woude-syndrome] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "lip-pit syndrome" RELATED [] +xref: ICD10CM:Q38.0 +xref: MSH:C536528 +xref: MSH:C563529 +xref: NCI:C74986 +xref: OMIM:119300 +xref: OMIM:606713 +xref: ORDO:888 +xref: SNOMEDCT_US_2015_03_01:79261008 +xref: UMLS_CUI:C0175697 +xref: UMLS_CUI:C1834339 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-27T15:51:56Z + +[Term] +id: DOID:0060240 +name: UV-sensitive syndrome +def: "An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines)." [url:http\://en.wikipedia.org/wiki/UV-sensitive_syndrome, url:http\://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome] +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:563466 +xref: OMIM:600630 +xref: OMIM:614621 +xref: OMIM:614640 +xref: ORDO:178338 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: emitraka +creation_date: 2015-01-27T16:00:50Z + +[Term] +id: DOID:0060241 +name: 3-M syndrome +def: "An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities." [url:http\://en.wikipedia.org/wiki/3-M_syndrome, url:http\://ghr.nlm.nih.gov/condition/3-m-syndrome] +comment: NT MGI. +synonym: "dolichospondylic dysplasia" EXACT [] +synonym: "gloomy face syndrome" EXACT [] +synonym: "Le Merrer syndrome" EXACT [] +synonym: "Miller-McKusick-Malvaux syndrome" EXACT [] +synonym: "three M syndrome" EXACT [] +synonym: "Yakut short stature syndrome" EXACT [] +xref: MSH:C535314 +xref: MSH:C535725 +xref: OMIM:273750 +xref: OMIM:612921 +xref: OMIM:614205 +xref: ORDO:2616 +xref: SNOMEDCT_US_2015_03_01:702342007 +xref: UMLS_CUI:C1848862 +xref: UMLS_CUI:C1851996 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: emitraka +creation_date: 2015-01-27T16:10:58Z + +[Term] +id: DOID:0060242 +name: synpolydactyly +def: "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene." [url:http\://en.wikipedia.org/wiki/Synpolydactyly, url:http\://www.ncbi.nlm.nih.gov/pubmed/18177473, url:http\://www.ncbi.nlm.nih.gov/pubmed/8817328] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "syndactyly type 2" EXACT [] +xref: MSH:C538153 +xref: NCI:C75003 +xref: OMIM:186000 +xref: OMIM:608180 +xref: OMIM:610234 +xref: ORDO:295195 +xref: UMLS_CUI:C2699746 +is_a: DOID:11193 ! syndactyly +created_by: emitraka +creation_date: 2015-01-27T16:57:56Z + +[Term] +id: DOID:0060243 +name: stuttering +def: "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech." [url:http\://en.wikipedia.org/wiki/Stuttering, url:http\://www.asha.org/public/speech/disorders/stuttering.htm, url:http\://www.merriam-webster.com/dictionary/stutter] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "familial persistent stuttering" EXACT [] +synonym: "stammering" EXACT [] +xref: ICD10CM:F80.81 +xref: MSH:D013342 +xref: NCI:C35043 +xref: OMIM:184450 +xref: OMIM:609261 +xref: OMIM:614655 +xref: OMIM:614668 +xref: SNOMEDCT_US_2015_03_01:154935003 +xref: SNOMEDCT_US_2015_03_01:191987007 +xref: SNOMEDCT_US_2015_03_01:192632007 +xref: SNOMEDCT_US_2015_03_01:229631007 +xref: SNOMEDCT_US_2015_03_01:231512003 +xref: SNOMEDCT_US_2015_03_01:231513008 +xref: SNOMEDCT_US_2015_03_01:29916003 +xref: SNOMEDCT_US_2015_03_01:39423001 +xref: SNOMEDCT_US_2015_03_01:416163003 +xref: UMLS_CUI:C0038131 +xref: UMLS_CUI:C0038506 +xref: UMLS_CUI:C0454542 +xref: UMLS_CUI:C0751527 +xref: UMLS_CUI:C0751528 +xref: UMLS_CUI:C0751529 +xref: UMLS_CUI:C3489627 +is_a: DOID:4186 ! articulation disorder +created_by: emitraka +creation_date: 2015-01-28T16:04:54Z + +[Term] +id: DOID:0060244 +name: specific language impairment +def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." [url:http\://en.wikipedia.org/wiki/Specific_language_impairment, url:http\://www.ncbi.nlm.nih.gov/pubmed/19646677] +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:606711 +xref: OMIM:606712 +xref: OMIM:612514 +xref: OMIM:615432 +xref: OMIM:617134 +is_a: DOID:93 ! language disorder +created_by: emitraka +creation_date: 2015-01-28T16:29:51Z + +[Term] +id: DOID:0060245 +name: Mast syndrome +def: "A hereditary spastic paraplegia associated with dementia." [url:http\://ghr.nlm.nih.gov/gene/SPG21, url:http\://www.ncbi.nlm.nih.gov/pubmed/6024251] +comment: NT MGI. +synonym: "autosomal recessive spastic paraplegia 21" EXACT [] +xref: ICD10CM:G11.4 +xref: OMIM:248900 +xref: ORDO:101001 +is_a: DOID:2476 ! hereditary spastic paraplegia +created_by: emitraka +creation_date: 2015-01-28T16:42:37Z + +[Term] +id: DOID:0060246 +name: MASA syndrome +def: "A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range." [url:http\://en.wikipedia.org/wiki/MASA_syndrome, url:http\://ghr.nlm.nih.gov/condition/l1-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract] +comment: NT MGI. +synonym: "CRASH syndrome" EXACT [] +synonym: "Gareis-Mason syndrome" EXACT [] +synonym: "L1 syndrome" EXACT [] +synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [] +synonym: "X-linked corpus callosum agenesis" EXACT [] +xref: MSH:C536029 +xref: OMIM:303350 +xref: ORDO:2466 +xref: UMLS_CUI:C0795953 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-28T16:49:53Z + +[Term] +id: DOID:0060247 +name: Smith-McCort dysplasia +def: "An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1216821] +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C564589 +xref: OMIM:607326 +xref: OMIM:615222 +xref: ORDO:178355 +xref: UMLS_CUI:C1846431 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: emitraka +creation_date: 2015-01-29T15:06:25Z + +[Term] +id: DOID:0060248 +name: Simpson-Golabi-Behmel syndrome +def: "An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities." [url:http\://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, url:http\://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "bulldog syndrome" EXACT [] +synonym: "DGSX Golabi-Rosen syndrome" EXACT [] +synonym: "Golabi-Rosen syndrome" EXACT [] +synonym: "Sara Angers syndrome" EXACT [] +synonym: "SGB syndrome" EXACT [] +synonym: "Simpson dysmorphia syndrome" EXACT [] +synonym: "X-linked dysplasia gigantism syndrome" EXACT [] +xref: MSH:C537340 +xref: OMIM:300209 +xref: OMIM:312870 +xref: ORDO:373 +xref: SNOMEDCT_US_2015_03_01:439143004 +xref: UMLS_CUI:C0796154 +is_a: DOID:0050735 ! X-linked disease +created_by: emitraka +creation_date: 2015-01-29T15:15:46Z + +[Term] +id: DOID:0060249 +name: scoliosis +def: "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine." [url:http\://en.wikipedia.org/wiki/Scoliosis, url:http\://ghr.nlm.nih.gov/glossary=scoliosis, url:http\://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140] +comment: NT MGI add. +subset: DO_MGI_slim +xref: HP:0002650 +xref: ICD10CM:M41 +xref: ICD10CM:M41.9 +xref: MSH:D012600 +xref: NCI:C78603 +xref: SNOMEDCT:20944008 +xref: SNOMEDCT:298382003 +xref: SNOMEDCT_US_2015_03_01:298382003 +xref: SNOMEDCT_US_2015_03_01:36773001 +xref: UMLS_CUI:C0036439 +is_a: DOID:0080010 ! bone structure disease +created_by: emitraka +creation_date: 2015-01-29T15:44:16Z + +[Term] +id: DOID:0060250 +name: idiopathic scoliosis +def: "A scoliosis with no known cause." [url:http\://en.wikipedia.org/wiki/Scoliosis] +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:181800 +xref: OMIM:607354 +xref: OMIM:608765 +xref: OMIM:612238 +xref: OMIM:612239 +is_a: DOID:0060249 ! scoliosis +created_by: emitraka +creation_date: 2015-01-29T15:52:18Z + +[Term] +id: DOID:0060251 +name: sclerosteosis +def: "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life." [url:http\://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:http\://www.ncbi.nlm.nih.gov/pubmed/11836356] +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C537525 +xref: OMIM:269500 +xref: OMIM:614305 +xref: ORDO:3152 +xref: SNOMEDCT_US_2015_03_01:17568006 +xref: UMLS_CUI:C0265301 +is_a: DOID:0080036 ! SOST-related sclerosing bone dysplasia +created_by: emitraka +creation_date: 2015-01-29T16:02:45Z + +[Term] +id: DOID:0060252 +name: sclerocornea +def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [url:http\://en.wikipedia.org/wiki/Sclerocornea, url:http\://www.ncbi.nlm.nih.gov/pubmed/3994576] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "isolated congenital sclerocornea" EXACT [] +xref: HP:0000647 +xref: MSH:C565209 +xref: OMIM:181700 +xref: ORDO:91490 +xref: UMLS_CUI:C1853235 +is_a: DOID:10124 ! corneal disease +created_by: emitraka +creation_date: 2015-01-29T16:16:57Z + +[Term] +id: DOID:0060253 +name: scapuloperoneal myopathy +def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." [url:http\://www.ncbi.nlm.nih.gov/pubmed/28179901] +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:181430 +xref: OMIM:300695 +is_a: DOID:9884 ! muscular dystrophy +created_by: emitraka +creation_date: 2015-01-29T16:35:26Z + +[Term] +id: DOID:0060254 +name: Robinow syndrome +def: "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities." [url:http\://en.wikipedia.org/wiki/Robinow_syndrome, url:http\://ghr.nlm.nih.gov/condition/robinow-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "acral dysostosis with facial and genital abnormalities" EXACT [] +synonym: "fetal face syndrome" EXACT [] +synonym: "Robinow dwarfism" EXACT [] +xref: ICD10CM:Q87.1 +xref: MSH:562492 +xref: OMIM:180700 +xref: ORDO:97360 +xref: UMLS_CUI:C0265205 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-01-29T16:42:52Z + +[Term] +id: DOID:0060255 +name: rippling muscle disease +def: "A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs." [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease] +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:600332 +xref: OMIM:606072 +xref: ORDO:97238 +xref: UMLS_CUI:C1853698 +is_a: DOID:66 ! muscle tissue disease +created_by: emitraka +creation_date: 2015-01-29T16:51:43Z + +[Term] +id: DOID:0060256 +name: Dowling-Degos disease +def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [url:http\://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, url:http\://ghr.nlm.nih.gov/condition/dowling-degos-disease] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "dark dot disease" EXACT [] +synonym: "reticular pigment anomaly of flexures" EXACT [] +xref: MSH:C562924 +xref: OMIM:179850 +xref: OMIM:615327 +xref: OMIM:615674 +xref: OMIM:615696 +xref: ORDO:79145 +xref: SNOMEDCT_US_2015_03_01:239133004 +xref: UMLS_CUI:C0406811 +xref: UMLS_CUI:C3714534 +is_a: DOID:10123 ! pigmentation disease +created_by: emitraka +creation_date: 2015-01-30T11:04:57Z + +[Term] +id: DOID:0060257 +name: dyschromatosis symmetrica hereditaria +def: "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities." [url:http\://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria, url:http\://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15, url:http\://www.ncbi.nlm.nih.gov/pubmed/22974014] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "reticulate acropigmentation of Dohi" EXACT [] +xref: MSH:C535729 +xref: OMIM:127400 +xref: ORDO:41 +xref: SNOMEDCT_US_2015_03_01:239085000 +xref: UMLS_CUI:C0406775 +is_a: DOID:10123 ! pigmentation disease +created_by: emitraka +creation_date: 2015-01-30T16:08:47Z + +[Term] +id: DOID:0060258 +name: reticulate acropigmentation of Kitamura +def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22808308] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "RAPK" EXACT [] +xref: MSH:C562924 +xref: OMIM:615537 +xref: ORDO:178307 +xref: SNOMEDCT_US_2015_03_01:239133004 +xref: UMLS_CUI:C0406811 +is_a: DOID:10123 ! pigmentation disease +created_by: emitraka +creation_date: 2015-01-30T16:19:57Z + +[Term] +id: DOID:0060259 +name: renal-hepatic-pancreatic dysplasia +def: "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth." [url:http\://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia, url:http\://www.ncbi.nlm.nih.gov/pubmed/17605805] +subset: DO_MGI_slim +synonym: "Ivemark's syndrome" EXACT [] +xref: OMIM:208540 +xref: OMIM:615415 +xref: ORDO:294415 +is_a: DOID:0080015 ! physical disorder +created_by: emitraka +creation_date: 2015-01-30T16:33:37Z + +[Term] +id: DOID:0060260 +name: ptosis +def: "An eye disease characterized by the drooping or falling of the upper or lower eyelid." [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29] +comment: NT MGI add. +subset: DO_MGI_slim +synonym: "blepharoptosis" EXACT [] +synonym: "drooping eyelid" EXACT [] +xref: HP:0000508 +xref: ICD10CM:H02.4 +xref: ICD10CM:H02.40 +xref: ICD10CM:H02.409 +xref: ICD9CM:374.3 +xref: ICD9CM:374.30 +xref: MSH:D001763 +xref: NCI:C27298 +xref: SNOMEDCT_US_2015_03_01:11934000 +xref: SNOMEDCT_US_2015_03_01:155179008 +xref: SNOMEDCT_US_2015_03_01:193942002 +xref: SNOMEDCT_US_2015_03_01:193943007 +xref: SNOMEDCT_US_2015_03_01:193945000 +xref: SNOMEDCT_US_2015_03_01:204197004 +xref: UMLS_CUI:C0005745 +is_a: DOID:5614 ! eye disease +created_by: emitraka +creation_date: 2015-01-30T16:46:53Z + +[Term] +id: DOID:0060261 +name: congenital ptosis +def: "A ptosis characterized by eyelid drop present at birth." [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29, url:http\://eyewiki.aao.org/Ptosis\,_Congenital] +comment: NT MGI. +subset: DO_MGI_slim +xref: HP:0007970 +xref: ICD10CM:Q10.0 +xref: ICD9CM:743.61 +xref: NCI:C27049 +xref: OMIM:178300 +xref: OMIM:300245 +xref: SNOMEDCT_US_2015_03_01:156901004 +xref: SNOMEDCT_US_2015_03_01:204197004 +xref: SNOMEDCT_US_2015_03_01:268163008 +xref: SNOMEDCT_US_2015_03_01:60938005 +xref: SNOMEDCT_US_2015_03_01:61989004 +xref: UMLS_CUI:C0266573 +is_a: DOID:0060260 ! ptosis +created_by: emitraka +creation_date: 2015-01-30T16:53:38Z + +[Term] +id: DOID:0060262 +name: gallbladder disease +alt_id: DOID:0000000 +def: "A gastrointestinal system disease that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Gallbladder_disease, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null] +comment: Xref MGI. +subset: DO_MGI_slim +subset: NCIthesaurus +xref: ICD10CM:K82.9 +xref: ICD9CM:575.9 +xref: MSH:D005705 +xref: NCI:C34631 +xref: OMIM:609918 +xref: OMIM:609919 +xref: OMIM:611465 +xref: SNOMEDCT_US_2015_03_01:155807008 +xref: SNOMEDCT_US_2015_03_01:155826000 +xref: SNOMEDCT_US_2015_03_01:155829007 +xref: SNOMEDCT_US_2015_03_01:266535008 +xref: SNOMEDCT_US_2015_03_01:266542008 +xref: SNOMEDCT_US_2015_03_01:266543003 +xref: SNOMEDCT_US_2015_03_01:39621005 +xref: UMLS_CUI:C0016977 +is_a: DOID:77 ! gastrointestinal system disease +created_by: emitraka +creation_date: 2015-02-02T15:48:08Z + +[Term] +id: DOID:0060263 +name: porencephaly +comment: NT MGI. +subset: DO_MGI_slim +xref: HP:0002132 +xref: ICD10CM:Q04.6 +xref: MSH:D065708 +xref: OMIM:175780 +xref: OMIM:614483 +xref: ORDO:2940 +xref: SNOMEDCT_US_2015_03_01:204071008 +xref: SNOMEDCT_US_2015_03_01:38353004 +xref: SNOMEDCT_US_2015_03_01:698837003 +xref: UMLS_CUI:C0302892 +xref: UMLS_CUI:C1867983 +xref: UMLS_CUI:C3698507 +is_a: DOID:936 ! brain disease +created_by: emitraka +creation_date: 2015-02-04T14:12:00Z + +[Term] +id: DOID:0060264 +name: pontocerebellar hypoplasia +comment: NT MGI add. +subset: DO_MGI_slim +synonym: "PCH" EXACT [] +xref: MSH:C580383 +xref: SNOMEDCT_US_2015_03_01:45163000 +xref: UMLS_CUI:C0266468 +is_a: DOID:1289 ! neurodegenerative disease +created_by: emitraka +creation_date: 2015-02-04T14:23:25Z + +[Term] +id: DOID:0060265 +name: pontocerebellar hypoplasia type 1A +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:607596 +xref: ORDO:2254 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060266 +name: pontocerebellar hypoplasia type 1B +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:614678 +xref: ORDO:2254 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060267 +name: pontocerebellar hypoplasia type 2A +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C564738 +xref: OMIM:277470 +xref: ORDO:2524 +xref: UMLS_CUI:C1848526 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060268 +name: pontocerebellar hypoplasia type 2B +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C567325 +xref: OMIM:612389 +xref: ORDO:2524 +xref: UMLS_CUI:C2676466 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060269 +name: pontocerebellar hypoplasia type 2C +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C567324 +xref: OMIM:612390 +xref: ORDO:2524 +xref: UMLS_CUI:C2676465 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060270 +name: pontocerebellar hypoplasia type 2D +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q04.3 +xref: OMIM:613811 +xref: ORDO:2524 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060271 +name: pontocerebellar hypoplasia type 2E +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:615851 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060272 +name: pontocerebellar hypoplasia type 3 +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C548072 +xref: OMIM:608027 +xref: ORDO:97249 +xref: UMLS_CUI:C1842687 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060273 +name: pontocerebellar hypoplasia type 4 +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C536716 +xref: OMIM:225753 +xref: ORDO:166063 +xref: UMLS_CUI:C1856974 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060274 +name: pontocerebellar hypoplasia type 5 +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C537745 +xref: OMIM:610204 +xref: ORDO:166068 +xref: UMLS_CUI:C1857762 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060275 +name: pontocerebellar hypoplasia type 6 +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C548074 +xref: OMIM:611523 +xref: ORDO:166073 +xref: UMLS_CUI:C1969084 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060276 +name: pontocerebellar hypoplasia type 7 +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q04.3 +xref: OMIM:614969 +xref: ORDO:284339 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060277 +name: pontocerebellar hypoplasia type 8 +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q04.3 +xref: OMIM:614961 +xref: ORDO:324569 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060278 +name: pontocerebellar hypoplasia type 9 +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q04.3 +xref: OMIM:615809 +xref: ORDO:369920 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060279 +name: pontocerebellar hypoplasia type 10 +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:615803 +xref: ORDO:411493 +is_a: DOID:0060264 ! pontocerebellar hypoplasia +created_by: emitraka +creation_date: 2015-02-04T14:28:28Z + +[Term] +id: DOID:0060280 +name: primary pigmented nodular adrenocortical disease +def: "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules." [url:http\://www.ncbi.nlm.nih.gov/pubmed/2212318] +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C566469 +xref: MSH:C566472 +xref: OMIM:610475 +xref: OMIM:610489 +xref: OMIM:614190 +xref: OMIM:615830 +xref: ORDO:189439 +xref: UMLS_CUI:C1864846 +xref: UMLS_CUI:C1864851 +is_a: DOID:3952 ! adrenal cortex disease +created_by: emitraka +creation_date: 2015-02-04T16:01:02Z + +[Term] +id: DOID:0060281 +name: photosensitive epilepsy +def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." [url:http\://en.wikipedia.org/wiki/Photosensitive_epilepsy] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "photogenic epilepsy" EXACT [] +synonym: "photoparoxysmal response" EXACT [] +xref: ICD10CM:G40.8 +xref: OMIM:132100 +xref: OMIM:609572 +xref: OMIM:609573 +xref: ORDO:166409 +is_a: DOID:1826 ! epilepsy syndrome +created_by: emitraka +creation_date: 2015-02-04T16:15:55Z + +[Term] +id: DOID:0060282 +name: persistent hyperplastic primary vitreous +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:D054514 +xref: OMIM:221900 +xref: OMIM:611308 +xref: ORDO:91495 +xref: SNOMEDCT_US_2015_03_01:314270008 +xref: SNOMEDCT_US_2015_03_01:44647001 +xref: SNOMEDCT_US_2015_03_01:69927002 +xref: UMLS_CUI:C0266568 +is_a: DOID:9720 ! vitreous disease +created_by: emitraka +creation_date: 2015-02-04T16:21:06Z + +[Term] +id: DOID:0060283 +name: peeling skin syndrome +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q80.8 +xref: OMIM:270300 +xref: OMIM:613088 +xref: ORDO:263543 +is_a: DOID:37 ! skin disease +created_by: emitraka +creation_date: 2015-02-04T16:28:52Z + +[Term] +id: DOID:0060284 +name: paroxysmal nocturnal hemoglobinuria +comment: NT MGI. +subset: DO_MGI_slim +xref: HP:0004818 +xref: ICD10CM:D59.1 +xref: ICD10CM:D59.5 +xref: ICD10CM:D59.6 +xref: MSH:D006457 +xref: NCI:C61233 +xref: OMIM:300818 +xref: OMIM:615399 +xref: ORDO:447 +xref: SNOMEDCT_US_2015_03_01:127057004 +xref: SNOMEDCT_US_2015_03_01:1468004 +xref: SNOMEDCT_US_2015_03_01:154805009 +xref: SNOMEDCT_US_2015_03_01:191223003 +xref: SNOMEDCT_US_2015_03_01:191224009 +xref: SNOMEDCT_US_2015_03_01:191226006 +xref: SNOMEDCT_US_2015_03_01:1963002 +xref: SNOMEDCT_US_2015_03_01:234377003 +xref: SNOMEDCT_US_2015_03_01:267559009 +xref: UMLS_CUI:C0019050 +xref: UMLS_CUI:C0024790 +xref: UMLS_CUI:C0086774 +is_a: DOID:582 ! hemoglobinuria +created_by: emitraka +creation_date: 2015-02-04T16:30:50Z + +[Term] +id: DOID:0060285 +name: parietal foramina +comment: NT MGI. +subset: DO_MGI_slim +synonym: "Caitlin marks" EXACT [] +synonym: "enlarged parietal foramina" EXACT [] +synonym: "hereditary cranium bifidum" EXACT [] +xref: HP:0002697 +xref: MSH:C566826 +xref: OMIM:168500 +xref: OMIM:609566 +xref: OMIM:609597 +xref: ORDO:60015 +xref: UMLS_CUI:C1868598 +is_a: DOID:0080074 ! neural tube defect +created_by: emitraka +creation_date: 2015-02-04T16:36:15Z + +[Term] +id: DOID:0060286 +name: combined oxidative phosphorylation deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: OMIM:300816 +xref: OMIM:609060 +xref: OMIM:610498 +xref: OMIM:610505 +xref: OMIM:610678 +xref: OMIM:611719 +xref: OMIM:613559 +xref: OMIM:614096 +xref: OMIM:614582 +xref: OMIM:614702 +xref: OMIM:614922 +xref: OMIM:614924 +xref: OMIM:614932 +xref: OMIM:614946 +xref: OMIM:614947 +xref: OMIM:615395 +xref: OMIM:615440 +xref: OMIM:615578 +xref: OMIM:615595 +xref: OMIM:615917 +xref: OMIM:615918 +xref: OMIM:616045 +xref: OMIM:616198 +xref: OMIM:616239 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: emitraka +creation_date: 2015-02-04T16:56:52Z + +[Term] +id: DOID:0060287 +name: cornea plana +comment: NT MGI. +subset: DO_MGI_slim +synonym: "flat cornea" EXACT [] +xref: HP:0007720 +xref: ICD10CM:Q13.4 +xref: OMIM:121400 +xref: OMIM:217300 +xref: ORDO:53691 +is_a: DOID:10124 ! corneal disease +created_by: emitraka +creation_date: 2015-02-04T17:04:28Z + +[Term] +id: DOID:0060288 +name: omodysplasia +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C537746 +xref: MSH:C567664 +xref: OMIM:164745 +xref: OMIM:258315 +xref: ORDO:2733 +xref: UMLS_CUI:C1850318 +xref: UMLS_CUI:C2750355 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: emitraka +creation_date: 2015-02-05T09:58:47Z + +[Term] +id: DOID:0060289 +name: Ohdo syndrome +def: "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "Ohdo blepharophimosis syndrome" EXACT [] +xref: MSH:C536232 +xref: OMIM:249620 +xref: OMIM:300895 +xref: ORDO:2728 +xref: SNOMEDCT_US_2015_03_01:412787009 +xref: UMLS_CUI:C0796094 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-02-05T10:03:42Z + +[Term] +id: DOID:0060290 +name: blepharophimosis-intellectual disability syndrome, SBBYS type +comment: NT MGI. +subset: DO_MGI_slim +synonym: "Ohdo syndrome, SBBYS Variant" EXACT [] +synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [] +synonym: "SBBYSS" RELATED [] +xref: MSH:C536717 +xref: OMIM:603736 +xref: ORDO:3047 +xref: SNOMEDCT_US_2015_03_01:699298009 +xref: UMLS_CUI:C1863557 +is_a: DOID:0060289 ! Ohdo syndrome +created_by: emitraka +creation_date: 2015-02-05T10:07:12Z + +[Term] +id: DOID:0060291 +name: oculodentodigital dysplasia +def: "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities." [PMID:12021949, url:http\://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia, url:https\://en.wikipedia.org/wiki/Oculodentodigital_dysplasia] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "ODD syndrome" EXACT [] +xref: MSH:C563160 +xref: OMIM:164200 +xref: OMIM:257850 +xref: ORDO:2710 +xref: SNOMEDCT_US_2015_03_01:31291009 +xref: SNOMEDCT_US_2015_03_01:38215007 +xref: UMLS_CUI:C0812437 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-02-05T10:12:23Z + +[Term] +id: DOID:0060292 +name: X-linked chondrodysplasia punctata +comment: NT MGI. +subset: DO_MGI_slim +synonym: "chondrodystrophia calcificans congenita" EXACT [] +xref: ICD10CM:Q77.3 +xref: MSH:C002806 +xref: OMIM:302950 +xref: OMIM:302960 +xref: ORDO:35173 +is_a: DOID:2581 ! chondrodysplasia punctata +created_by: emitraka +creation_date: 2015-02-05T16:35:34Z + +[Term] +id: DOID:0060293 +name: autosomal dominant chondrodysplasia punctata +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:Q77.3 +xref: OMIM:118650 +xref: OMIM:118651 +xref: OMIM:602497 +xref: ORDO:79344 +is_a: DOID:2581 ! chondrodysplasia punctata +created_by: emitraka +creation_date: 2015-02-05T16:49:46Z + +[Term] +id: DOID:0060294 +name: cold-induced sweating syndrome +def: "An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene." [url:http\://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "Crisponi syndrome" EXACT [] +synonym: "Sohar-Crisponi syndrome" EXACT [] +xref: MSH:C536214 +xref: OMIM:242730 +xref: OMIM:610313 +xref: ORDO:157820 +xref: SNOMEDCT_US_2015_03_01:702363009 +xref: UMLS_CUI:C1832409 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: emitraka +creation_date: 2015-02-06T16:10:07Z + +[Term] +id: DOID:0060295 +name: complement component 2 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:217000 +xref: ORDO:169147 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060296 +name: congenital secretory chloride diarrhea 1 +def: "A secretory diarrhea caused_by mutation in the SLC26A3 gene." [OMIM:214700] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "congenital chloride diarrhea finnish type" EXACT [] +synonym: "congenital chloridorrhea" EXACT [] +xref: MSH:C536210 +xref: OMIM:214700 +xref: ORDO:53689 +xref: SNOMEDCT_US_2015_03_01:24412005 +xref: UMLS_CUI:C0267662 +is_a: DOID:0050129 ! secretory diarrhea +created_by: emitraka +creation_date: 2015-02-09T16:42:50Z + +[Term] +id: DOID:0060297 +name: complement component 4a deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:614380 +xref: ORDO:169147 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060298 +name: complement component 4b deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:614379 +xref: ORDO:169147 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060299 +name: complement component 6 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:612446 +xref: ORDO:169150 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060300 +name: complement component 7 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:610102 +xref: ORDO:1695150 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060301 +name: type I complement component 8 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:613790 +xref: ORDO:169150 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060302 +name: type II complement component 8 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:613789 +xref: ORDO:169150 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060303 +name: complement component 9 deficiency +comment: NT MGI. +subset: DO_MGI_slim +xref: ICD10CM:D84.1 +xref: OMIM:613825 +xref: ORDO:169150 +is_a: DOID:626 ! complement deficiency +created_by: emitraka +creation_date: 2015-02-09T15:32:25Z + +[Term] +id: DOID:0060304 +name: dyschromatosis universalis hereditaria +def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [url:http\://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, url:http\://www.ncbi.nlm.nih.gov/pubmed/12372090] +comment: NT MGI. +subset: DO_MGI_slim +xref: MSH:C535730 +xref: OMIM:127500 +xref: OMIM:612715 +xref: OMIM:615402 +xref: ORDO:241 +xref: UMLS_CUI:C2930995 +is_a: DOID:10123 ! pigmentation disease +created_by: emitraka +creation_date: 2015-02-09T16:53:42Z + +[Term] +id: DOID:0060305 +name: megalocornea +def: "A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene." [url:http\://en.wikipedia.org/wiki/Megalocornea, url:http\://ghr.nlm.nih.gov/gene/CHRDL1, url:http\://www.ncbi.nlm.nih.gov/pubmed/6849653] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "anterior megalophthalmos" EXACT [] +synonym: "congenital anterior megalophthalmia" EXACT [] +xref: HP:0007660 +xref: MSH:C562829 +xref: OMIM:249300 +xref: OMIM:309300 +xref: ORDO:91489 +xref: SNOMEDCT_US_2015_03_01:204118005 +xref: SNOMEDCT_US_2015_03_01:204119002 +xref: SNOMEDCT_US_2015_03_01:268158009 +xref: SNOMEDCT_US_2015_03_01:388840007 +xref: SNOMEDCT_US_2015_03_01:39978004 +xref: UMLS_CUI:C0344530 +is_a: DOID:10124 ! corneal disease +created_by: emitraka +creation_date: 2015-02-10T12:29:54Z + +[Term] +id: DOID:0060306 +name: Meier-Gorlin syndrome +def: "An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae." [url:http\://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome, url:http\://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/14564153] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "ear-patella-short stature syndrome" EXACT [] +xref: MSH:C538012 +xref: OMIM:224690 +xref: OMIM:613800 +xref: OMIM:613803 +xref: OMIM:613804 +xref: OMIM:613805 +xref: ORDO:2554 +xref: SNOMEDCT_US_2015_03_01:703508009 +xref: UMLS_CUI:C1868684 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: emitraka +creation_date: 2015-02-10T12:40:39Z + +[Term] +id: DOID:0060307 +name: autosomal dominant non-syndromic intellectual disability +def: "A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21124998] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "autosomal dominant mental retardation" EXACT [] +synonym: "autosomal dominant non-syndromic mental retardation" EXACT [] +xref: OMIM:156200 +xref: OMIM:612337 +xref: OMIM:612580 +xref: OMIM:612581 +xref: OMIM:612621 +xref: OMIM:613443 +xref: OMIM:613970 +xref: OMIM:614104 +xref: OMIM:614113 +xref: OMIM:614254 +xref: OMIM:614255 +xref: OMIM:614256 +xref: OMIM:614257 +xref: OMIM:614562 +xref: OMIM:614563 +xref: OMIM:614607 +xref: OMIM:614608 +xref: OMIM:614609 +xref: OMIM:615009 +xref: OMIM:615074 +xref: OMIM:615075 +xref: OMIM:615502 +xref: OMIM:615761 +xref: OMIM:615828 +xref: OMIM:615834 +xref: OMIM:615873 +xref: OMIM:615886 +xref: ORDO:178469 +is_a: DOID:0050889 ! non-syndromic intellectual disability +created_by: emitraka +creation_date: 2015-02-10T16:47:55Z + +[Term] +id: DOID:0060308 +name: autosomal recessive non-syndromic intellectual disability +def: "A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21124998] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "autosomal recessive mental retardation" EXACT [] +synonym: "autosomal recessive non-syndromic mental retardation" EXACT [] +xref: OMIM:249500 +xref: OMIM:607417 +xref: OMIM:608443 +xref: OMIM:611090 +xref: OMIM:611091 +xref: OMIM:611092 +xref: OMIM:611093 +xref: OMIM:611094 +xref: OMIM:611095 +xref: OMIM:611096 +xref: OMIM:611097 +xref: OMIM:611107 +xref: OMIM:614020 +xref: OMIM:614208 +xref: OMIM:614249 +xref: OMIM:614286 +xref: OMIM:614329 +xref: OMIM:614333 +xref: OMIM:614339 +xref: OMIM:614340 +xref: OMIM:614341 +xref: OMIM:614342 +xref: OMIM:614343 +xref: OMIM:614344 +xref: OMIM:614345 +xref: OMIM:614346 +xref: OMIM:614347 +xref: OMIM:614499 +xref: OMIM:614562 +xref: OMIM:615493 +xref: OMIM:615516 +xref: OMIM:615541 +xref: OMIM:615599 +xref: OMIM:615637 +xref: OMIM:615802 +xref: OMIM:615817 +xref: OMIM:615942 +xref: ORDO:88616 +is_a: DOID:0050889 ! non-syndromic intellectual disability +created_by: emitraka +creation_date: 2015-02-11T10:32:11Z + +[Term] +id: DOID:0060309 +name: syndromic X-linked intellectual disability +def: "A syndromic intellectual characterized by an X-linked inheritance pattern." [url:http\://en.wikipedia.org/wiki/X-linked_intellectual_disability] +comment: NT MGI. +subset: DO_MGI_slim +synonym: "syndromic X-linked mental retardation" EXACT [] +xref: OMIM:300055 +xref: OMIM:300218 +xref: OMIM:300220 +xref: OMIM:300238 +xref: OMIM:300676 +xref: OMIM:300709 +xref: OMIM:300858 +xref: OMIM:300886 +xref: OMIM:304340 +xref: OMIM:309545 +is_a: DOID:0050888 ! syndromic intellectual disability +created_by: emitraka +creation_date: 2015-02-11T16:14:46Z + +[Term] +id: DOID:0060310 +name: uvulitis +def: "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size." [url:http\://en.wikipedia.org/wiki/Palatine_uvula#Inflammation, url:http\://www.ncbi.nlm.nih.gov/pubmed/8285973] +comment: PRISM. +synonym: "acute uvulitis" EXACT [] +xref: ICD10CM:K12.2 +xref: MEDDRA:10051962 +is_a: DOID:974 ! upper respiratory tract disease +created_by: emitraka +creation_date: 2015-02-16T13:26:27Z + +[Term] +id: DOID:0060311 +name: adenoid hypertrophy +def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing." [url:http\://en.wikipedia.org/wiki/Adenoid_hypertrophy, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/21126775, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001649.htm] +comment: PRISM. +synonym: "adenoidal hypertrophy" EXACT [] +synonym: "enlarged adenoids" EXACT [] +xref: ICD10CM:J35.2 +xref: ICD9CM:474.12 +xref: MEDDRA:10001229 +xref: SNOMEDCT_US_2015_03_01:111591002 +xref: SNOMEDCT_US_2015_03_01:195795005 +xref: UMLS_CUI:C0149825 +is_a: DOID:974 ! upper respiratory tract disease +created_by: emitraka +creation_date: 2015-02-16T13:35:56Z + +[Term] +id: DOID:0060312 +name: angular cheilitis +def: "A cheilitis characterized by inflammation of one or both of the corners of the mouth." [url:http\://en.wikipedia.org/wiki/Angular_cheilitis] +comment: PRISM. +synonym: "angular cheilosis" EXACT [] +synonym: "angular stomatitis" EXACT [] +synonym: "cheilosis" EXACT [] +synonym: "commissural cheilitis" EXACT [] +xref: ICD10CM:K13.0 +xref: MSH:D002613 +xref: NCI:C79545 +xref: SNOMEDCT_US_2015_03_01:155664000 +xref: SNOMEDCT_US_2015_03_01:196557006 +xref: SNOMEDCT_US_2015_03_01:266495008 +xref: SNOMEDCT_US_2015_03_01:7847004 +xref: UMLS_CUI:C0007971 +is_a: DOID:1762 ! cheilitis +created_by: emitraka +creation_date: 2015-02-19T15:57:00Z + +[Term] +id: DOID:0060313 +name: tracheomalacia +def: "A tracheal disease characterized by flaccidity of the tracheal support cartilage." [url:http\://en.wikipedia.org/wiki/Tracheomalacia] +comment: PRISM. +synonym: "congenital tracheomalacia" EXACT [] +xref: HP:0002779 +xref: ICD10CM:Q32.0 +xref: MSH:C557675 +xref: ORDO:95430 +xref: SNOMEDCT_US_2015_03_01:95467005 +xref: UMLS_CUI:C0392109 +is_a: DOID:3225 ! tracheal disease +created_by: emitraka +creation_date: 2015-02-20T16:02:03Z + +[Term] +id: DOID:0060314 +name: persistent generalized lymphadenopathy +def: "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found." [ISBN:978-0-443-06839-3, url:http\://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy] +comment: PRISM. +synonym: "PGL" EXACT [] +xref: HP:0008940 +is_a: DOID:9942 ! lymph node disease +created_by: emitraka +creation_date: 2015-02-23T14:33:26Z + +[Term] +id: DOID:0060315 +name: oral hairy leukoplakia +def: "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus." [url:http\://en.wikipedia.org/wiki/Hairy_leukoplakia] +synonym: "hairy leukoplakia" EXACT [] +xref: ICD10CM:K13.3 +xref: MSH:D017733 +xref: NCI:C3722 +xref: SNOMEDCT_US_2015_03_01:196569003 +xref: SNOMEDCT_US_2015_03_01:414952002 +xref: SNOMEDCT_US_2015_03_01:58918007 +xref: UMLS_CUI:C0206186 +is_a: DOID:403 ! mouth disease +created_by: emitraka +creation_date: 2015-02-23T15:55:53Z + +[Term] +id: DOID:0060316 +name: orofaciodigital syndrome I +def: "An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene." [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1] +subset: DO_MGI_slim +synonym: "orofaciodigital syndrome 1" EXACT [] +synonym: "orofaciodigital syndrome type I" EXACT [] +synonym: "Papillon-Leage-Psaume syndrome" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:D009958 +xref: OMIM:311200 +xref: ORDO:2750 +xref: SNOMEDCT_US_2015_03_01:1779005 +xref: SNOMEDCT_US_2015_03_01:239029009 +xref: SNOMEDCT_US_2015_03_01:403773005 +xref: SNOMEDCT_US_2015_03_01:52868006 +xref: UMLS_CUI:C0026363 +xref: UMLS_CUI:C0029294 +xref: UMLS_CUI:C1510460 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: emitraka +creation_date: 2015-03-09T17:15:07Z + +[Term] +id: DOID:0060317 +name: lung abscess +def: "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid." [url:http\://en.wikipedia.org/wiki/Lung_abscess] +xref: ICD10CM:J85.2 +xref: ICD9CM:513.0 +xref: MSH:D008169 +xref: NCI:C99090 +xref: SNOMEDCT_US_2015_03_01:155618005 +xref: SNOMEDCT_US_2015_03_01:196113000 +xref: SNOMEDCT_US_2015_03_01:73452002 +xref: UMLS_CUI:C0024110 +is_a: DOID:850 ! lung disease +created_by: emitraka +creation_date: 2015-02-23T16:58:49Z + +[Term] +id: DOID:0060318 +name: acute promyelocytic leukemia +def: "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17." [url:http\://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia, url:http\://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia] +synonym: "acute myeloblastic leukemia type 3" EXACT [] +synonym: "acute myeloid leukemia M3" EXACT [] +synonym: "APL" EXACT [] +xref: ICD10CM:C92.4 +xref: ICD10CM:C92.40 +xref: MSH:D015473 +xref: NCI:C3182 +xref: OMIM:612376 +xref: ORDO:520 +xref: SNOMEDCT_US_2015_03_01:110004001 +xref: SNOMEDCT_US_2015_03_01:28950004 +xref: UMLS_CUI:C0023487 +is_a: DOID:9119 ! acute myeloid leukemia +created_by: emitraka +creation_date: 2015-02-24T16:50:50Z + +[Term] +id: DOID:0060319 +name: cardiac arrest +def: "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all." [ISBN:0-07-140235-7, url:http\://en.wikipedia.org/wiki/Cardiac_arrest, url:http\://www.nlm.nih.gov/medlineplus/cardiacarrest.html] +synonym: "cardiopulmonary arrest" EXACT [] +synonym: "circulatory arrest" EXACT [] +xref: ICD10CM:I46 +xref: ICD9CM:427.5 +xref: MSH:D006323 +xref: NCI:C50479 +xref: NCI:C50483 +xref: SNOMEDCT_US_2015_03_01:155372006 +xref: SNOMEDCT_US_2015_03_01:195085006 +xref: SNOMEDCT_US_2015_03_01:195090009 +xref: SNOMEDCT_US_2015_03_01:233926006 +xref: SNOMEDCT_US_2015_03_01:251189000 +xref: SNOMEDCT_US_2015_03_01:30298009 +xref: SNOMEDCT_US_2015_03_01:309810002 +xref: SNOMEDCT_US_2015_03_01:397829000 +xref: SNOMEDCT_US_2015_03_01:397912004 +xref: SNOMEDCT_US_2015_03_01:410429000 +xref: SNOMEDCT_US_2015_03_01:410430005 +xref: UMLS_CUI:C0018790 +xref: UMLS_CUI:C0600228 +is_a: DOID:6000 ! congestive heart failure +created_by: emitraka +creation_date: 2015-02-25T15:12:30Z + +[Term] +id: DOID:0060320 +name: inguinal hernia +def: "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal." [url:http\://en.wikipedia.org/wiki/Inguinal_hernia] +xref: HP:0000023 +xref: ICD10CM:K40 +xref: ICD10CM:K40.90 +xref: ICD9CM:550 +xref: MSH:D006552 +xref: NCI:C34690 +xref: NCI:C34691 +xref: NCI:C34692 +xref: SNOMEDCT_US_2015_03_01:155738001 +xref: SNOMEDCT_US_2015_03_01:155741005 +xref: SNOMEDCT_US_2015_03_01:155744002 +xref: SNOMEDCT_US_2015_03_01:196800008 +xref: SNOMEDCT_US_2015_03_01:196822001 +xref: SNOMEDCT_US_2015_03_01:196827007 +xref: SNOMEDCT_US_2015_03_01:196828002 +xref: SNOMEDCT_US_2015_03_01:261478001 +xref: SNOMEDCT_US_2015_03_01:261480007 +xref: SNOMEDCT_US_2015_03_01:266440002 +xref: SNOMEDCT_US_2015_03_01:266508004 +xref: SNOMEDCT_US_2015_03_01:266509007 +xref: SNOMEDCT_US_2015_03_01:266510002 +xref: SNOMEDCT_US_2015_03_01:286968003 +xref: SNOMEDCT_US_2015_03_01:286969006 +xref: SNOMEDCT_US_2015_03_01:396232000 +xref: SNOMEDCT_US_2015_03_01:44297005 +xref: SNOMEDCT_US_2015_03_01:65626001 +xref: SNOMEDCT_US_2015_03_01:73147001 +xref: UMLS_CUI:C0019294 +xref: UMLS_CUI:C0019295 +xref: UMLS_CUI:C0019296 +is_a: DOID:5295 ! intestinal disease +created_by: emitraka +creation_date: 2015-02-25T15:54:50Z + +[Term] +id: DOID:0060321 +name: umbilical hernia +def: "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles." [url:en.wikipedia.org/wiki/Umbilical_hernia, url:http\://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630] +xref: HP:0001537 +xref: ICD10CM:Q79.2 +xref: ICD9CM:756.72 +xref: MSH:D006554 +xref: NCI:C98997 +xref: SNOMEDCT_US_2015_03_01:157007005 +xref: SNOMEDCT_US_2015_03_01:18735004 +xref: SNOMEDCT_US_2015_03_01:196854005 +xref: SNOMEDCT_US_2015_03_01:196872004 +xref: SNOMEDCT_US_2015_03_01:205516007 +xref: SNOMEDCT_US_2015_03_01:271017007 +xref: SNOMEDCT_US_2015_03_01:396347007 +xref: SNOMEDCT_US_2015_03_01:49324006 +xref: SNOMEDCT_US_2015_03_01:5867007 +xref: UMLS_CUI:C0795690 +xref: UMLS_CUI:C1306503 +is_a: DOID:5295 ! intestinal disease +created_by: emitraka +creation_date: 2015-02-25T15:58:35Z + +[Term] +id: DOID:0060322 +name: mastoiditis +def: "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process." [url:http\://en.wikipedia.org/wiki/Mastoiditis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001034.htm] +xref: HP:0000265 +xref: ICD10CM:H70.9 +xref: ICD10CM:H70.90 +xref: ICD9CM:383.9 +xref: MSH:D008417 +xref: SNOMEDCT_US_2015_03_01:155230007 +xref: SNOMEDCT_US_2015_03_01:194309002 +xref: SNOMEDCT_US_2015_03_01:52404001 +xref: UMLS_CUI:C0024904 +is_a: DOID:3342 ! bone inflammation disease +created_by: emitraka +creation_date: 2015-02-25T16:29:09Z + +[Term] +id: DOID:0060323 +name: breast abscess +def: "A breast disease characterized by a collection of pus in the breast." [url:http\://en.wikipedia.org/wiki/Mastitis#Breast_abscess] +is_a: DOID:3463 ! breast disease +created_by: emitraka +creation_date: 2015-02-25T17:21:01Z + +[Term] +id: DOID:0060324 +name: dental abscess +def: "A tooth disease characterized by a localized collection of pus associated with a tooth." [url:http\://en.wikipedia.org/wiki/Dental_abscess] +xref: ICD10CM:K04.6 +is_a: DOID:1091 ! tooth disease +created_by: emitraka +creation_date: 2015-02-25T17:25:03Z + +[Term] +id: DOID:0060325 +name: cervical polyp +def: "A cervix disease characterized by a benign polyp on the surface of the cervical canal." [ISBN:3-7186-5857-7, url:http\://en.wikipedia.org/wiki/Cervical_polyp] +xref: HP:0030159 +xref: ICD10CM:D26 +xref: ICD10CM:D26.9 +xref: ICD9CM:219 +xref: SNOMEDCT_US_2015_03_01:154628008 +xref: SNOMEDCT_US_2015_03_01:189107007 +xref: UMLS_CUI:C0153996 +is_a: DOID:2253 ! cervix disease +created_by: emitraka +creation_date: 2015-02-25T17:33:54Z + +[Term] +id: DOID:0060326 +name: myelomeningocele +def: "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes." [url:http\://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001558.htm] +xref: HP:0002475 +xref: ICD10CM:Q05 +xref: MSH:D008591 +xref: NCI:C101201 +xref: NCI:C98874 +xref: SNOMEDCT_US_2015_03_01:156890007 +xref: SNOMEDCT_US_2015_03_01:203984008 +xref: SNOMEDCT_US_2015_03_01:203988006 +xref: SNOMEDCT_US_2015_03_01:203989003 +xref: SNOMEDCT_US_2015_03_01:203993009 +xref: SNOMEDCT_US_2015_03_01:203994003 +xref: SNOMEDCT_US_2015_03_01:203995002 +xref: SNOMEDCT_US_2015_03_01:203999008 +xref: SNOMEDCT_US_2015_03_01:268308005 +xref: SNOMEDCT_US_2015_03_01:414667000 +xref: SNOMEDCT_US_2015_03_01:7096005 +xref: SNOMEDCT_US_2015_03_01:82058009 +xref: UMLS_CUI:C0025312 +xref: UMLS_CUI:C0086664 +xref: UMLS_CUI:C0751316 +is_a: DOID:0080016 ! spina bifida +created_by: emitraka +creation_date: 2015-02-25T17:47:25Z + +[Term] +id: DOID:0060327 +name: omphalocele +def: "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac." [url:http\://en.wikipedia.org/wiki/Omphalocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000994.htm] +synonym: "omphalocoele" EXACT [] +xref: HP:0001539 +xref: ICD10CM:Q79.2 +xref: ICD9CM:756.72 +xref: MSH:D006554 +xref: NCI:C98997 +xref: OMIM:164750 +xref: SNOMEDCT_US_2015_03_01:157007005 +xref: SNOMEDCT_US_2015_03_01:18735004 +xref: SNOMEDCT_US_2015_03_01:196854005 +xref: SNOMEDCT_US_2015_03_01:196872004 +xref: SNOMEDCT_US_2015_03_01:205516007 +xref: SNOMEDCT_US_2015_03_01:271017007 +xref: SNOMEDCT_US_2015_03_01:396347007 +xref: SNOMEDCT_US_2015_03_01:49324006 +xref: SNOMEDCT_US_2015_03_01:5867007 +xref: UMLS_CUI:C0795690 +xref: UMLS_CUI:C1306503 +is_a: DOID:0080015 ! physical disorder +created_by: emitraka +creation_date: 2015-02-25T17:54:05Z + +[Term] +id: DOID:0060328 +name: anal fistula +def: "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [url:http\://en.wikipedia.org/wiki/Anal_fistula] +xref: HP:0010447 +xref: ICD10CM:K60.3 +is_a: DOID:1285 ! rectal disease +created_by: elvira +creation_date: 2015-02-25T19:05:13Z + +[Term] +id: DOID:0060329 +name: ectopic pregnancy +def: "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity." [url:http\://en.wikipedia.org/wiki/Ectopic_pregnancy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000895.htm] +synonym: "eccyesis" EXACT [] +xref: ICD10CM:O00 +xref: ICD10CM:O00.9 +xref: ICD9CM:633 +xref: ICD9CM:633.9 +xref: MSH:D011271 +xref: NCI:C34945 +xref: SNOMEDCT_US_2015_03_01:156080003 +xref: SNOMEDCT_US_2015_03_01:156083001 +xref: SNOMEDCT_US_2015_03_01:198630007 +xref: SNOMEDCT_US_2015_03_01:34801009 +xref: UMLS_CUI:C0032987 +is_a: DOID:229 ! female reproductive system disease +created_by: elvira +creation_date: 2015-02-25T19:27:50Z + +[Term] +id: DOID:0060330 +name: Rapp-Hodgkin syndrome +def: "An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate." [url:http\://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1] +comment: Part of AEC spectrum. Research more. +subset: DO_MGI_slim +synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [] +xref: OMIM:129400 +xref: ORDO:3022 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: emitraka +creation_date: 2015-03-12T13:47:30Z + +[Term] +id: DOID:0060331 +name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +def: "A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21." [url:http\://omim.org/entry/614052] +subset: DO_MGI_slim +synonym: "MC5DN2" EXACT [] +synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [] +xref: ICD10CM:G71.3 +xref: OMIM:614052 +xref: ORDO:1194 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: emitraka +creation_date: 2015-03-12T16:04:59Z + +[Term] +id: DOID:0060332 +name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 +def: "A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13." [url:http\://omim.org/entry/614053] +subset: DO_MGI_slim +synonym: "MC5DN3" EXACT [] +xref: ICD10CM:E88.8 +xref: OMIM:614053 +xref: ORDO:254913 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: emitraka +creation_date: 2015-03-12T16:04:59Z + +[Term] +id: DOID:0060333 +name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4 +def: "A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q." [url:http\://omim.org/entry/615228] +subset: DO_MGI_slim +synonym: "MC5DN4" EXACT [] +xref: ICD10CM:E88.8 +xref: OMIM:615228 +xref: ORDO:254913 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: emitraka +creation_date: 2015-03-12T16:04:59Z + +[Term] +id: DOID:0060334 +name: transient neonatal diabetes mellitus +def: "A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients." [PMID:17349054, url:http\://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus] +subset: DO_MGI_slim +xref: ICD10CM:P70.2 +xref: OMIM:601410 +xref: OMIM:610374 +xref: OMIM:610582 +xref: ORDO:99886 +is_a: DOID:11717 ! neonatal diabetes mellitus +created_by: emitraka +creation_date: 2015-03-12T16:59:58Z + +[Term] +id: DOID:0060335 +name: autosomal dominant sideroblastic anemia +def: "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern." [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] +subset: DO_MGI_slim +xref: OMIM:182170 +is_a: DOID:8955 ! sideroblastic anemia +created_by: emitraka +creation_date: 2015-04-16T10:44:34Z + +[Term] +id: DOID:0060336 +name: 3-methylglutaconic aciduria +subset: DO_MGI_slim +xref: ICD10CM:E71.1 +xref: MSH:C579867 +xref: OMIM:250950 +xref: OMIM:250951 +xref: OMIM:258501 +xref: OMIM:610198 +xref: OMIM:614739 +xref: OMIM:616271 +xref: ORDO:289902 +xref: ORDO:67046 +is_a: DOID:0060159 ! organic acidemia +created_by: emitraka +creation_date: 2015-04-16T10:50:48Z + +[Term] +id: DOID:0060337 +name: CEDNIK syndrome +def: "An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis." [PMID:21073448] +comment: Flybase. +synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [OMIM:609528] +xref: MSH:C537943 +xref: OMIM:609528 +xref: ORDO:66631 +xref: UMLS_CUI:C1836033 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: emitraka +creation_date: 2015-05-11T10:31:37Z + +[Term] +id: DOID:0060338 +name: parameningeal embryonal rhabdomyosarcoma +def: "An embryonal rhabdomyosarcoma located in the parameningeal region." [PMID:10717216, PMID:23021437] +is_a: DOID:3246 ! embryonal rhabdomyosarcoma +created_by: emitraka +creation_date: 2015-05-14T14:32:27Z + +[Term] +id: DOID:0060339 +name: chronic atrial and intestinal dysrhythmia +def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [PMID:25282101] +subset: DO_MGI_slim +synonym: "CAID syndrome" EXACT [PMID:25282101] +xref: OMIM:616201 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-05-18T15:37:53Z + +[Term] +id: DOID:0060340 +name: ciliopathy +def: "A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." [PMID:18178628, PMID:21210154, url:http\://en.wikipedia.org/wiki/Ciliopathy] +is_a: DOID:630 ! genetic disease +created_by: emitraka +creation_date: 2015-05-21T10:41:29Z + +[Term] +id: DOID:0060341 +name: agnathia-otocephaly complex +def: "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported." [PMID:17438667] +synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [ORDO:990] +synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [OMIM:202650] +synonym: "holoprosencephaly-agnathia" EXACT [OMIM:202650] +synonym: "otocephaly" EXACT [OMIM:202650] +xref: ICD10CM:Q18.2 +xref: OMIM:202650 +xref: ORDO:990 +is_a: DOID:0080015 ! physical disorder +created_by: emitraka +creation_date: 2015-05-26T16:14:08Z + +[Term] +id: DOID:0060342 +name: acromelic frontonasal dysostosis +def: "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations." [PMID:15264282] +xref: OMIM:603671 +is_a: DOID:1934 ! dysostosis +created_by: emitraka +creation_date: 2015-05-26T16:44:46Z + +[Term] +id: DOID:0060343 +name: glucocorticoid-induced osteoporosis +def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." [PMID:17566815, PMID:22870429] +synonym: "steroid-induced osteoporosis" EXACT [] +is_a: DOID:11476 ! osteoporosis +created_by: emitraka +creation_date: 2015-05-27T17:07:43Z + +[Term] +id: DOID:0060344 +name: acrodermatitis chronica atrophicans +def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." [url:http\://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, url:www.dermis.net/dermisroot/en/35111/diagnose.htm] +subset: GOLD +synonym: "Herxheimer disease" EXACT [] +synonym: "primary diffuse atrophy" EXACT [] +xref: DERMO:0002165 +xref: ICD9CM:701.8 +xref: SNOMEDCT_US_2015_03_01:201079006 +xref: SNOMEDCT_US_2015_03_01:201088002 +xref: UMLS_CUI:C0029805 +is_a: DOID:2722 ! acrodermatitis +created_by: emitraka +creation_date: 2015-05-28T14:45:56Z + +[Term] +id: DOID:0060345 +name: bacillary angiomatosis +def: "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs." [PMID:9407154, url:http\://en.wikipedia.org/wiki/Bacillary_angiomatosis] +subset: GOLD +xref: MSH:D016917 +xref: NCI:C3477 +xref: SNOMEDCT_US_2015_03_01:58213005 +xref: UMLS_CUI:C0085434 +is_a: DOID:11102 ! bartonellosis +created_by: emitraka +creation_date: 2015-05-28T16:26:12Z + +[Term] +id: DOID:0060346 +name: Native American myopathy +def: "A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13." [OMIM:255995, PMID:18553514] +xref: MSH:C538343 +xref: OMIM:255995 +xref: ORDO:168572 +xref: UMLS_CUI:C1850625 +is_a: DOID:440 ! neuromuscular disease +created_by: emitraka +creation_date: 2015-06-01T17:47:31Z + +[Term] +id: DOID:0060347 +name: acrorenal syndrome +def: "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes." [PMID:26019842] +xref: MSH:C563159 +xref: OMIM:102520 +xref: OMIM:201310 +xref: UMLS_CUI:C3495490 +is_a: DOID:225 ! syndrome +created_by: emitraka +creation_date: 2015-06-04T14:51:42Z + +[Term] +id: DOID:0060348 +name: hypoparathyroidism-retardation-dysmorphism syndrome +def: "An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity." [PMID:15645691, PMID:24339556] +synonym: "HRD syndrome" EXACT [] +synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT [] +synonym: "Sanjad-Sakati syndrome" EXACT [] +xref: MSH:C537157 +xref: OMIM:241410 +xref: ORDO:2323 +xref: UMLS_CUI:C1855840 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: elvira +creation_date: 2015-06-19T20:05:16Z + +[Term] +id: DOID:0060349 +name: lymphedema, microcephaly and chorioretinopathy syndrome +def: "A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [PMID:10482868, PMID:11302131, PMID:5936364] +synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT [] +synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [] +synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [] +synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [] +xref: MSH:C537711 +xref: ORDO:2526 +xref: UMLS_CUI:C1835265 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-06-24T22:12:55Z + +[Term] +id: DOID:0060350 +name: adenine phosphoribosyltransferase deficiency +def: "An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern." [PMID:20150536, url:http\://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, url:https\://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency] +synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [] +synonym: "APRT deficiency" EXACT [] +xref: MSH:C538228 +xref: OMIM:614723 +xref: SNOMEDCT_US_2015_03_01:11852004 +xref: SNOMEDCT_US_2015_03_01:124274002 +xref: UMLS_CUI:C0268120 +xref: UMLS_CUI:C3665382 +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: elvira +creation_date: 2015-07-02T16:06:22Z + +[Term] +id: DOID:0060351 +name: mitochondrial complex III deficiency nuclear type 2 +def: "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern." [PMID:21278747, url:http\://www.omim.org/entry/615157] +synonym: "MC3DN2" EXACT [] +xref: OMIM:615157 +is_a: DOID:700 ! mitochondrial metabolism disease +created_by: elvira +creation_date: 2015-07-14T16:24:56Z + +[Term] +id: DOID:0060352 +name: Kleefstra syndrome +def: "A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region." [PMID:15264279, PMID:21245904, url:http\://ghr.nlm.nih.gov/condition/kleefstra-syndrome, url:https\://en.wikipedia.org/wiki/9q34_deletion_syndrome] +synonym: "9q subtelomeric deletion syndrome" EXACT [] +synonym: "9q-syndrome" EXACT [] +synonym: "9q34 deletion syndrome" EXACT [] +xref: MSH:C563043 +xref: OMIM:610253 +xref: ORDO:261494 +xref: UMLS_CUI:C0795833 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-07-14T16:49:09Z + +[Term] +id: DOID:0060353 +name: acrofacial dysostosis Cincinnati type +def: "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11." [PMID:25913037] +xref: OMIM:616462 +is_a: DOID:0060379 ! acrofacial dysostosis +created_by: elvira +creation_date: 2015-07-15T16:37:59Z + +[Term] +id: DOID:0060354 +name: Stormorken syndrome +def: "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern." [PMID:24619930, PMID:25577287, url:http\://ghr.nlm.nih.gov/condition/stormorken-syndrome] +synonym: "thrombocytopathy, asplenia and miosis" EXACT [] +xref: MSH:C566108 +xref: OMIM:185070 +xref: ORDO:3204 +xref: UMLS_CUI:C1861451 +is_a: DOID:2218 ! blood platelet disease +created_by: elvira +creation_date: 2015-07-16T16:30:32Z + +[Term] +id: DOID:0060355 +name: amyotrohpic lateral sclerosis type 22 +def: "An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35." [url:http\://omim.org/entry/616208] +synonym: "ALS 22" EXACT [] +synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] +synonym: "amyotrophic lateral sclerosis 22" EXACT [] +xref: OMIM:616208 +xref: ORDO:803 +is_a: DOID:332 ! amyotrophic lateral sclerosis +created_by: elvira +creation_date: 2015-07-22T11:37:41Z + +[Term] +id: DOID:0060356 +name: Vici syndrome +def: "An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined\nimmunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3." [PMID:21965116, PMID:23222957, url:https\://en.wikipedia.org/wiki/Vici_syndrome] +synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [] +xref: MSH:C535566 +xref: OMIM:242840 +xref: ORDO:1493 +xref: UMLS_CUI:C1855772 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: elvira +creation_date: 2015-08-19T16:22:27Z + +[Term] +id: DOID:0060357 +name: chylomicron retention disease +def: "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1." [PMID:10521380, PMID:20920215, PMID:3430059, PMID:3792776, url:https\://en.wikipedia.org/wiki/Chylomicron_retention_disease] +synonym: "Anderson disease" EXACT [] +synonym: "CMRD" EXACT [] +xref: ICD10CM:E78.3 +xref: MSH:C535460 +xref: OMIM:246700 +xref: ORDO:71 +xref: SNOMEDCT_US_2015_03_01:190792005 +xref: SNOMEDCT_US_2015_03_01:702364003 +xref: UMLS_CUI:C0795956 +is_a: DOID:3146 ! lipid metabolism disorder +created_by: elvira +creation_date: 2015-08-20T12:44:44Z + +[Term] +id: DOID:0060358 +name: multiple acyl-CoA dehydrogenase deficiency +def: "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal." [PMID:12815589, PMID:22580358, url:http\://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https\://en.wikipedia.org/wiki/Glutaric_acidemia_type_2] +synonym: "electron transfer flavoprotein deficiency" EXACT [] +synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [] +synonym: "glutaric acidemia type 2" EXACT [] +synonym: "glutaric aciduria type 2" EXACT [] +synonym: "MAD deficiency" EXACT [] +synonym: "MADD" EXACT [] +xref: ICD10CM:E71.313 +xref: MSH:D054069 +xref: NCI:C84907 +xref: NCI:C99102 +xref: OMIM:231680 +xref: ORDO:26791 +xref: SNOMEDCT_US_2015_03_01:22886006 +xref: UMLS_CUI:C0268596 +xref: UMLS_CUI:C1856401 +xref: UMLS_CUI:C1856403 +xref: UMLS_CUI:C1856405 +is_a: DOID:655 ! inherited metabolic disorder +created_by: elvira +creation_date: 2015-08-20T16:23:47Z + +[Term] +id: DOID:0060359 +name: Sakati-Nyhan syndrome +def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [url:https\://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome] +synonym: "ACPS with leg hypoplasia" EXACT [] +synonym: "acrocephalopolysyndactyly type 3" EXACT [] +synonym: "acrocephalopolysyndactyly Type III" EXACT [] +synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [] +xref: ICD10CM:Q87.0 +xref: MeSH:C537227 +xref: OMIM:101120 +xref: ORDO:3128 +is_a: DOID:12960 ! acrocephalosyndactylia +created_by: elvira +creation_date: 2015-09-03T14:23:46Z + +[Term] +id: DOID:0060360 +name: hereditary papulotranslucent acrokeratoderma +def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [PMID:16409913] +xref: MeSH:C566323 +xref: OMIM:101840 +is_a: DOID:161 ! keratosis +created_by: elvira +creation_date: 2015-09-03T14:36:52Z + +[Term] +id: DOID:0060361 +name: punctate palmoplantar keratoderma +def: "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate] +synonym: "punctate keratosis palmoplantaris" RELATED [] +synonym: "punctate palmoplantar hyperkeratosis" EXACT [] +xref: ORDO:307967 +xref: UMLS_CUI:C1274216 +is_a: DOID:3390 ! palmoplantar keratosis +created_by: elvira +creation_date: 2015-09-03T14:50:46Z + +[Term] +id: DOID:0060362 +name: punctate palmoplantar keratoderma type III +synonym: "acrokeratoelastoidosis of Costa" EXACT [] +synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [] +synonym: "punctate palmoplantar keratoderma type 3" EXACT [] +xref: ICD10CM:Q82.8 +xref: MSH:C535653 +xref: OMIM:101850 +xref: ORDO:38 +xref: UMLS_CUI:C0545044 +is_a: DOID:0060361 ! punctate palmoplantar keratoderma +created_by: elvira +creation_date: 2015-09-03T15:31:19Z + +[Term] +id: DOID:0060363 +name: glycerol kinase deficiency +def: "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21." [PMID:22427807, url:https\://en.wikipedia.org/wiki/Glycerol_kinase_deficiency] +xref: ICD10CM:E74.8 +xref: MSH:C538138 +xref: OMIM:307030 +xref: ORDO:408 +xref: UMLS_CUI:C0574108 +is_a: DOID:655 ! inherited metabolic disorder +created_by: elvira +creation_date: 2015-09-17T15:45:20Z + +[Term] +id: DOID:0060364 +name: Galloway-Mowat syndrome +def: "An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome." [PMID:20083416, PMID:26123727, url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome] +synonym: "Galloway syndrome" EXACT [] +synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] +synonym: "nephrosis-microcephaly syndrome" EXACT [] +synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] +xref: ICD10CM:Q04.3 +xref: MSH:C537548 +xref: OMIM:251300 +xref: ORDO:2065 +xref: UMLS_CUI:C0795949 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: elvira +creation_date: 2015-09-17T16:00:31Z + +[Term] +id: DOID:0060365 +name: mandibulofacial dysostosis with alopecia +def: "A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [PMID:25772936] +synonym: "MFDA" EXACT [] +xref: OMIM:616367 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-09-17T16:20:00Z + +[Term] +id: DOID:0060366 +name: Hennekam syndrome +def: "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients." [PMID:14564208, PMID:24870712, PMID:2624276, url:http\://ghr.nlm.nih.gov/condition/hennekam-syndrome, url:https\://en.wikipedia.org/wiki/Hennekam_syndrome] +synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [] +synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [] +xref: ICD10CM:Q87.8 +xref: MSH:C537255 +xref: OMIM:235510 +xref: OMIM:616006 +xref: ORDO:2136 +xref: UMLS_CUI:C0340834 +is_a: DOID:75 ! lymphatic system disease +created_by: elvira +creation_date: 2015-09-17T16:36:59Z + +[Term] +id: DOID:0060367 +name: autosomal dominant Parkinson disease 1 +def: "A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1." [PMID:22315721, url:http\://www.omim.org/entry/168601] +synonym: "PARK1" EXACT [] +xref: OMIM:168601 +xref: ORDO:411601 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T16:48:14Z + +[Term] +id: DOID:0060368 +name: autosomal recessive juvenile Parkinson disease 2 +def: "A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27." [PMID:22315721] +synonym: "PARK2" EXACT [] +xref: OMIM:600116 +xref: ORDO:2828 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T16:56:33Z + +[Term] +id: DOID:0060369 +name: early-onset Parkinson disease 6 +def: "A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12." [PMID:22315721] +synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT [] +synonym: "PARK6" EXACT [] +xref: OMIM:605909 +xref: ORDO:2828 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T17:00:11Z + +[Term] +id: DOID:0060370 +name: autosomal recessive early-onset Parkinson disease 7 +def: "A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36." [PMID:22315721] +synonym: "PARK7" EXACT [] +xref: OMIM:606324 +xref: ORDO:2828 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T17:04:57Z + +[Term] +id: DOID:0060371 +name: autosomal dominant Parkinson disease 8 +def: "A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12." [PMID:22315721] +synonym: "PARK8" EXACT [] +xref: OMIM:607060 +xref: ORDO:411602 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T17:07:35Z + +[Term] +id: DOID:0060372 +name: autosomal recessive early-onset Parkinson disease 15 +def: "A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3." [PMID:22315721] +synonym: "pallidopyramidal syndrome" EXACT [] +synonym: "PARK15" EXACT [] +synonym: "Parkinsonian-pyramidal syndrome" EXACT [] +xref: OMIM:260300 +xref: ORDO:171695 +is_a: DOID:14330 ! Parkinson's disease +created_by: elvira +creation_date: 2015-09-17T17:13:37Z + +[Term] +id: DOID:0060373 +name: orofaciodigital syndrome III +subset: DO_MGI_slim +synonym: "Sugarman syndrome" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C557817 +xref: OMIM:258850 +xref: ORDO:2752 +xref: UMLS_CUI:C0406726 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T14:58:32Z + +[Term] +id: DOID:0060374 +name: orofaciodigital syndrome IV +subset: DO_MGI_slim +synonym: "Baraitser-Burn syndrome" EXACT [] +synonym: "OFD4" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C537133 +xref: OMIM:258860 +xref: ORDO:2753 +xref: UMLS_CUI:C0406727 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:19Z + +[Term] +id: DOID:0060375 +name: orofaciodigital syndrome V +subset: DO_MGI_slim +synonym: "OFD5" EXACT [] +synonym: "orofaciodigital syndrome Thurston type" EXACT [] +synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C557819 +xref: OMIM:174300 +xref: ORDO:2919 +xref: UMLS_CUI:C1868118 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:19Z + +[Term] +id: DOID:0060376 +name: Joubert syndrome with orofaciodigital defect +def: "A Joubert syndrome subtype with orofaciodigital defect." [PMID:23716954] +subset: DO_MGI_slim +synonym: "OFD6" EXACT [] +synonym: "orofaciodigital syndrome VI" EXACT [] +synonym: "Varadi syndrome" EXACT [] +synonym: "Varadi-Papp syndrome" EXACT [] +xref: ICD10CM:Q04.3 +xref: MSH:C536531 +xref: OMIM:277170 +xref: ORDO:2754 +xref: UMLS_CUI:C2745997 +is_a: DOID:0050777 ! Joubert syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:19Z + +[Term] +id: DOID:0060377 +name: orofaciodigital syndrome VII +subset: DO_MGI_slim +synonym: "OFD7" EXACT [] +synonym: "Whelan syndrome" EXACT [] +xref: MSH:C563104 +xref: OMIM:608518 +xref: ORDO:90649 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:19Z + +[Term] +id: DOID:0060378 +name: orofaciodigital syndrome VIII +subset: DO_MGI_slim +synonym: "Edwards syndrome" EXACT [] +synonym: "OFD8" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C557820 +xref: OMIM:300484 +xref: ORDO:2755 +xref: UMLS_CUI:C0796101 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:19Z + +[Term] +id: DOID:0060379 +name: acrofacial dysostosis +is_a: DOID:1934 ! dysostosis +created_by: elvira +creation_date: 2015-09-21T15:24:28Z + +[Term] +id: DOID:0060380 +name: orofaciodigital syndrome X +subset: DO_MGI_slim +synonym: "OFD10" EXACT [] +synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C563491 +xref: OMIM:165590 +xref: ORDO:2756 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:20Z + +[Term] +id: DOID:0060381 +name: orofaciodigital syndrome XI +subset: DO_MGI_slim +xref: ICD10CM:Q87.0 +xref: MSH:C557821 +xref: OMIM:612913 +xref: ORDO:141000 +xref: UMLS_CUI:C2752048 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:00:20Z + +[Term] +id: DOID:0060382 +name: orofaciodigital syndrome IX +subset: DO_MGI_slim +synonym: "OFD9" EXACT [] +synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C557818 +xref: OMIM:258865 +xref: ORDO:141007 +xref: UMLS_CUI:C0796102 +is_a: DOID:4501 ! orofaciodigital syndrome +created_by: elvira +creation_date: 2015-09-18T15:24:17Z + +[Term] +id: DOID:0060383 +name: acrofacial dysostosis Rodriguez type +subset: DO_MGI_slim +synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [] +xref: ICD10CM:Q75.4 +xref: MSH:C538183 +xref: OMIM:201170 +xref: ORDO:1788 +xref: UMLS_CUI:C1860119 +is_a: DOID:0060379 ! acrofacial dysostosis +created_by: elvira +creation_date: 2015-09-21T15:30:41Z + +[Term] +id: DOID:0060384 +name: acrofacial dysostosis, Catania type +subset: DO_MGI_slim +synonym: "Opitz Mollica Sorge syndrome" EXACT [] +synonym: "Opitz-Caltabiano syndrome" EXACT [] +xref: ICD10CM:Q75.4 +xref: MSH:C538182 +xref: OMIM:101805 +xref: ORDO:1786 +xref: UMLS_CUI:C2931762 +is_a: DOID:0060379 ! acrofacial dysostosis +created_by: elvira +creation_date: 2015-09-21T15:34:09Z + +[Term] +id: DOID:0060385 +name: acrofacial dysostosis, Patagonia type +subset: DO_MGI_slim +xref: ICD10CM:Q75.4 +xref: MSH:C538185 +xref: OMIM:601829 +xref: ORDO:1787 +xref: UMLS_CUI:C1866168 +is_a: DOID:0060379 ! acrofacial dysostosis +created_by: elvira +creation_date: 2015-09-21T15:38:31Z + +[Term] +id: DOID:0060386 +name: Chilblain lupus +xref: ICD10CM:L93.2 +xref: MSH:C535924 +xref: OMIM:610448 +xref: OMIM:614415 +xref: ORDO:90280 +xref: UMLS_CUI:C0024145 +is_a: DOID:0050169 ! cutaneous lupus erythematosus +created_by: elvira +creation_date: 2015-09-22T17:10:37Z + +[Term] +id: DOID:0060387 +name: chondrodysplasia Blomstrand type +subset: DO_MGI_slim +synonym: "Blomstrand lethal chondrodysplasia" EXACT [] +xref: ICD10CM:Q78.8 +xref: MSH:C537914 +xref: OMIM:205045 +xref: ORDO:50945 +xref: UMLS_CUI:C1859148 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: elvira +creation_date: 2015-09-24T16:23:12Z + +[Term] +id: DOID:0060388 +name: chromosomal deletion syndrome +is_a: DOID:0080014 ! chromosomal disease +created_by: elvira +creation_date: 2015-09-28T15:48:41Z + +[Term] +id: DOID:0060389 +name: chromosome 10q23 deletion syndrome +subset: DO_MGI_slim +xref: MSH:C567385 +xref: OMIM:612242 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T15:50:18Z + +[Term] +id: DOID:0060390 +name: distal 10q deletion syndrome +subset: DO_MGI_slim +synonym: "chromosome 10q26 deletion syndrome" EXACT [] +synonym: "distal monosomy 10q" EXACT [] +synonym: "monosomy 10qter" EXACT [] +synonym: "telomeric deletion 10q" EXACT [] +synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C567182 +xref: OMIM:609625 +xref: ORDO:96148 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:08:42Z + +[Term] +id: DOID:0060391 +name: chromosome 13q14 deletion syndrome +subset: DO_MGI_slim +synonym: "deletion 13q14" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613884 +xref: ORDO:1587 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:14:46Z + +[Term] +id: DOID:0060392 +name: chromosome 14q11-q22 deletion syndrome +subset: DO_MGI_slim +synonym: "14q11.2 microdeletion syndrome" EXACT [] +xref: OMIM:613457 +xref: ORDO:261120 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:18:44Z + +[Term] +id: DOID:0060393 +name: chromosome 15q11.2 deletion syndrome +subset: DO_MGI_slim +synonym: "15q11.2 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:615656 +xref: ORDO:261183 +xref: UMLS_CUI:C3180937 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:21:07Z + +[Term] +id: DOID:0060394 +name: chromosome 15q13.3 microdeletion syndrome +subset: DO_MGI_slim +synonym: "15q13.3 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C567439 +xref: OMIM:612001 +xref: ORDO:199318 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:23:21Z + +[Term] +id: DOID:0060395 +name: chromosome 15q24 deletion syndrome +subset: DO_MGI_slim +synonym: "15q24 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C579849 +xref: OMIM:613406 +xref: ORDO:94065 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:25:55Z + +[Term] +id: DOID:0060396 +name: chromosome 15q25 deletion syndrome +xref: OMIM:614294 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:28:12Z + +[Term] +id: DOID:0060397 +name: chromosome 15q26-qter deletion syndrome +subset: DO_MGI_slim +synonym: "15q26 deletion syndrome" EXACT [] +synonym: "distal 15q deletion syndrome" EXACT [] +synonym: "distal monosomy 15q" EXACT [] +synonym: "Drayer syndrome" EXACT [] +synonym: "telomeric 15q deletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C567232 +xref: OMIM:612626 +xref: ORDO:1596 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:30:51Z + +[Term] +id: DOID:0060398 +name: chromosome 16p11.2 deletion syndrome, 220kb +subset: DO_MGI_slim +synonym: "distal 16p11.2 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613444 +xref: ORDO:261222 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:35:34Z + +[Term] +id: DOID:0060399 +name: chromosome 16p12.1 deletion syndrome, 520kb +subset: DO_MGI_slim +xref: OMIM:136570 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:36:57Z + +[Term] +id: DOID:0060400 +name: chromosome 16p12.2-p11.2 deletion syndrome +subset: DO_MGI_slim +synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [] +synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613604 +xref: ORDO:261211 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:42:38Z + +[Term] +id: DOID:0060401 +name: chromosome 16q22 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:614541 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:46:03Z + +[Term] +id: DOID:0060402 +name: chromosome 17p13.1 deletion syndrome +xref: MSH:D054221 +xref: OMIM:613776 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:49:53Z + +[Term] +id: DOID:0060403 +name: chromosome 17q11.2 deletion syndrome, 1.4Mb +subset: DO_MGI_slim +synonym: "17q11 microdeletion syndrome" EXACT [] +synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [] +synonym: "NF1 microdeletion syndrome" EXACT [] +synonym: "Van Asperen syndrome" EXACT [] +xref: ICD10CM:Q85.0 +xref: OMIM:613675 +xref: ORDO:97685 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:52:05Z + +[Term] +id: DOID:0060404 +name: chromosome 17q12 deletion syndrome +subset: DO_MGI_slim +synonym: "17q12 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:614527 +xref: ORDO:261265 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:55:38Z + +[Term] +id: DOID:0060405 +name: chromosome 17q23.1-q23.2 deletion syndrome +subset: DO_MGI_slim +synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [] +synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613355 +xref: ORDO:261279 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T16:58:27Z + +[Term] +id: DOID:0060406 +name: chromosome 18p deletion syndrome +subset: DO_MGI_slim +synonym: "18p- syndrome" EXACT [] +synonym: "De Grouchy syndrome" EXACT [] +synonym: "monosomy 18p" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:146390 +xref: ORDO:1598 +xref: UMLS_CUI:C0432442 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:01:47Z + +[Term] +id: DOID:0060407 +name: chromosome 18q deletion syndrome +subset: DO_MGI_slim +synonym: "18q- syndrome" EXACT [] +synonym: "deletion 18q" EXACT [] +synonym: "monosomy 18q" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C536580 +xref: OMIM:601808 +xref: ORDO:1600 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:05:53Z + +[Term] +id: DOID:0060408 +name: chromosome 19q13.11 deletion syndrome +subset: DO_MGI_slim +synonym: "19q13.11 microdeletion syndrome" EXACT [] +synonym: "monosomy 19q13.11" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613026 +xref: ORDO:217346 +xref: UMLS_CUI:C2751651 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:09:44Z + +[Term] +id: DOID:0060409 +name: chromosome 1p32-p31 deletion syndrome +subset: DO_MGI_slim +synonym: "1p31p32 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613735 +xref: ORDO:401986 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:12:14Z + +[Term] +id: DOID:0060410 +name: chromosome 1p36 deletion syndrome +subset: DO_MGI_slim +synonym: "1p36 deletion syndrome" EXACT [] +synonym: "deletion 1p36" EXACT [] +synonym: "monosomy 1p36" EXACT [] +synonym: "subtelomeric 1p36 deletion" RELATED [] +xref: ICD10CM:Q93.5 +xref: MSH:C535362 +xref: OMIM:607872 +xref: ORDO:1606 +xref: UMLS_CUI:C1842870 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:14:10Z + +[Term] +id: DOID:0060411 +name: chromosome 1q21.1 deletion syndrome +subset: DO_MGI_slim +synonym: "1q21.1 microdeletion syndrome" EXACT [] +synonym: "monosomy 1q21.1" RELATED [] +xref: ICD10CM:Q93.5 +xref: OMIM:612474 +xref: ORDO:250989 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:17:38Z + +[Term] +id: DOID:0060412 +name: chromosome 1q41-q42 deletion syndrome +subset: DO_MGI_slim +synonym: "1q41-q42 microdeletion syndrome" EXACT [] +synonym: "1q41q42 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:612530 +xref: ORDO:250999 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:24:43Z + +[Term] +id: DOID:0060413 +name: chromosome 22q11.2 deletion syndrome, distal +subset: DO_MGI_slim +synonym: "distal 22q11.2 microdeletion syndrome" EXACT [] +xref: OMIM:611867 +xref: ORDO:261330 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:28:28Z + +[Term] +id: DOID:0060414 +name: chromosome 2p12-p11.2 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:613564 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:31:12Z + +[Term] +id: DOID:0060415 +name: chromosome 2p16.1-p15 deletion syndrome +subset: DO_MGI_slim +synonym: "2p15-p16.1 microdeletion syndrome" RELATED [] +synonym: "2p15p16.1 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:612513 +xref: ORDO:261349 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:32:44Z + +[Term] +id: DOID:0060416 +name: chromosome 2q31.2 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:612345 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:36:55Z + +[Term] +id: DOID:0060417 +name: 3p- syndrome +subset: DO_MGI_slim +synonym: "chromosome 3pter-P25 deletion syndrome" EXACT [] +synonym: "distal monosomy 3p" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:613792 +xref: ORDO:1620 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:38:32Z + +[Term] +id: DOID:0060418 +name: chromosome 3q13.31 deletion syndrome +subset: DO_MGI_slim +synonym: "3q13 microdeletion syndrome" EXACT [] +synonym: "monosomy 3q13" EXACT [] +xref: ICD10CM:Q93.5 +xref: MSH:C536808 +xref: OMIM:615433 +xref: ORDO:1621 +xref: UMLS_CUI:C2931338 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:42:28Z + +[Term] +id: DOID:0060419 +name: chromosome 3q29 microdeletion syndrome +subset: DO_MGI_slim +synonym: "3q subtelomere deletion syndrome" EXACT [] +synonym: "3q29 microdeletion syndrome" EXACT [] +synonym: "3qter deletion" EXACT [] +xref: MSH:C567184 +xref: OMIM:609425 +xref: ORDO:65286 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:45:50Z + +[Term] +id: DOID:0060420 +name: chromosome 4q21 deletion syndrome +subset: DO_MGI_slim +synonym: "4q21 microdeletion syndrome" EXACT [] +synonym: "monosomy 4q21" EXACT [] +xref: OMIM:613509 +xref: ORDO:238750 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:49:18Z + +[Term] +id: DOID:0060421 +name: chromosome 5q12 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:615668 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:52:47Z + +[Term] +id: DOID:0060422 +name: chromosome 6pter-p24 deletion syndrome +subset: DO_MGI_slim +synonym: "6p subtelomeric deletion syndrome" EXACT [] +synonym: "6p25 microdeletion syndrome" EXACT [] +synonym: "distal monosomy 6p" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:612582 +xref: ORDO:96125 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:55:16Z + +[Term] +id: DOID:0060423 +name: chromosome 6q11-q14 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:613544 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:58:28Z + +[Term] +id: DOID:0060424 +name: chromosome 6q24-q25 deletion syndrome +subset: DO_MGI_slim +synonym: "6q25 microdeletion syndrome" EXACT [] +synonym: "monosomy 6q25" EXACT [] +xref: OMIM:612863 +xref: ORDO:251056 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T17:59:36Z + +[Term] +id: DOID:0060425 +name: chromosome 8q21.11 deletion syndrome +subset: DO_MGI_slim +synonym: "8q21.11 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:614230 +xref: ORDO:284160 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-28T18:06:23Z + +[Term] +id: DOID:0060426 +name: chromosome 19p13.13 deletion syndrome +subset: DO_MGI_slim +xref: OMIM:613638 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-29T15:26:36Z + +[Term] +id: DOID:0060427 +name: chromosome Xp21 deletion syndrome +subset: DO_MGI_slim +synonym: "complex glycerol kinase deficiency" EXACT [] +synonym: "monosomy Xp21" EXACT [] +synonym: "Xp21 microdeletion syndrome" EXACT [] +xref: ICD10CM:Q99.8 +xref: OMIM:300679 +xref: ORDO:261476 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-09-29T16:13:28Z + +[Term] +id: DOID:0060428 +name: chromosome 2q32-q33 deletion syndrome +subset: DO_MGI_slim +synonym: "2q32-q33 microdeletion syndrome" EXACT [] +synonym: "2q32q33 microdeletion syndrome" EXACT [] +synonym: "Glass syndrome" EXACT [] +synonym: "monosomy 2q32" EXACT [] +synonym: "monosomy 2q32-q33" EXACT [] +synonym: "monosomy 2q32q33" EXACT [] +xref: ICD10CM:Q93.5 +xref: OMIM:612313 +xref: ORDO:251019 +is_a: DOID:0060388 ! chromosomal deletion syndrome +created_by: elvira +creation_date: 2015-10-01T15:37:11Z + +[Term] +id: DOID:0060429 +name: chromosomal duplication syndrome +is_a: DOID:0080014 ! chromosomal disease +created_by: elvira +creation_date: 2015-10-02T15:19:23Z + +[Term] +id: DOID:0060430 +name: chromosome 16p11.2 duplication syndrome +subset: DO_MGI_slim +synonym: "proximal 16p11.2 microduplication syndrome" EXACT [] +synonym: "proximal dup(16)(p11.2)" EXACT [] +synonym: "proximal trisomy 16p11.2" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:614671 +xref: ORDO:370079 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T15:19:40Z + +[Term] +id: DOID:0060431 +name: chromosome 16p13.3 duplication syndrome +subset: DO_MGI_slim +synonym: "16p13.3 microduplication syndrome" EXACT [] +synonym: "distal duplication 16p" EXACT [] +synonym: "distal trisomy 16p" EXACT [] +synonym: "telomeric duplication 16p" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:613458 +xref: ORDO:96078 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T15:43:05Z + +[Term] +id: DOID:0060432 +name: chromosome 17p13.3 duplication syndrome +subset: DO_MGI_slim +synonym: "17p13.3 duplication syndrome" EXACT [] +synonym: "17p13.3 microduplication syndrome" EXACT [] +synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [] +synonym: "trisomy 17p13.3" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:613215 +xref: ORDO:217385 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T15:45:43Z + +[Term] +id: DOID:0060433 +name: chromosome 17q12 duplication syndrome +subset: DO_MGI_slim +synonym: "17q12 microduplication syndrome" EXACT [] +synonym: "trisomy 17q12" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:614526 +xref: ORDO:261272 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T15:49:05Z + +[Term] +id: DOID:0060434 +name: chromosome 17q21.31 duplication syndrome +subset: DO_MGI_slim +synonym: "17q21.31 microduplication syndrome" EXACT [] +synonym: "trisomy 17q21.31" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:613533 +xref: ORDO:217340 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T15:50:26Z + +[Term] +id: DOID:0060435 +name: chromosome 1q21.1 duplication syndrome +subset: DO_MGI_slim +synonym: "1q21.1 microduplication syndrome" EXACT [] +synonym: "trisomy 1q21.1" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:612475 +xref: ORDO:250994 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T16:58:42Z + +[Term] +id: DOID:0060436 +name: chromosome 22q11.2 microduplication syndrome +subset: DO_MGI_slim +synonym: "22q11.2 microduplication syndrome" EXACT [] +synonym: "duplication 22q11.2" EXACT [] +synonym: "trisomy 22q11.2" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:608363 +xref: ORDO:1727 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T17:02:03Z + +[Term] +id: DOID:0060437 +name: chromosome 22q13 duplication syndrome +subset: DO_MGI_slim +xref: OMIM:615538 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-02T17:11:03Z + +[Term] +id: DOID:0060438 +name: Cole-Carpenter syndrome +def: "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance." [PMID:10842295] +subset: DO_MGI_slim +xref: ICD10CM:Q78.0 +xref: MSH:C535963 +xref: OMIM:112240 +xref: OMIM:616294 +xref: ORDO:2050 +xref: UMLS_CUI:C1862178 +is_a: DOID:12347 ! osteogenesis imperfecta +created_by: elvira +creation_date: 2015-10-06T16:24:18Z + +[Term] +id: DOID:0060439 +name: lysinuric protein intolerance +def: "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11." [PMID:1155480, url:http\://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http\://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https\://en.wikipedia.org/wiki/Lysinuric_protein_intolerance] +synonym: "dibasic amino aciduria II" EXACT [] +synonym: "hyperdibasic aminoaciduria" EXACT [] +synonym: "LPI" EXACT [] +xref: ICD10CM:E72.3 +xref: MSH:C562687 +xref: OMIM:222700 +xref: ORDO:470 +xref: UMLS_CUI:C0268647 +is_a: DOID:9252 ! amino acid metabolic disorder +created_by: elvira +creation_date: 2015-10-13T15:04:00Z + +[Term] +id: DOID:0060440 +name: epithelial and subepithelial dystrophy +is_a: DOID:2566 ! corneal dystrophy +created_by: elvira +creation_date: 2015-10-16T16:37:13Z + +[Term] +id: DOID:0060441 +name: epithelial-stromal TGFBI dystrophy +is_a: DOID:2566 ! corneal dystrophy +created_by: elvira +creation_date: 2015-10-16T16:39:25Z + +[Term] +id: DOID:0060442 +name: stromal dystrophy +is_a: DOID:2566 ! corneal dystrophy +created_by: elvira +creation_date: 2015-10-16T16:39:25Z + +[Term] +id: DOID:0060443 +name: endothelial dystrophy +is_a: DOID:2566 ! corneal dystrophy +created_by: elvira +creation_date: 2015-10-16T16:39:25Z + +[Term] +id: DOID:0060444 +name: granular corneal dystrophy type II +subset: DO_MGI_slim +synonym: "avellino corneal dystrophy" EXACT [] +synonym: "CGD2" EXACT [] +synonym: "combined granular-lattice corneal dystrophy" EXACT [] +synonym: "granular corneal dystrophy type 2" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535474 +xref: OMIM:607541 +xref: ORDO:98963 +xref: UMLS_CUI:C1275685 +is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy +created_by: elvira +creation_date: 2015-10-16T16:44:27Z + +[Term] +id: DOID:0060445 +name: congenital stromal corneal dystrophy +subset: DO_MGI_slim +synonym: "congenital hereditary stromal dystrophy" EXACT [] +synonym: "CSCD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C566452 +xref: OMIM:610048 +xref: ORDO:101068 +is_a: DOID:0060442 ! stromal dystrophy +created_by: elvira +creation_date: 2015-10-16T17:09:23Z + +[Term] +id: DOID:0060446 +name: X-linked endothelial corneal dystrophy +subset: DO_MGI_slim +synonym: "XECD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C567587 +xref: OMIM:300779 +xref: ORDO:293621 +is_a: DOID:0060443 ! endothelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:13:34Z + +[Term] +id: DOID:0060447 +name: epithelial basement membrane dystrophy +subset: DO_MGI_slim +synonym: "Cogan corneal dystrophy" EXACT [] +synonym: "EBMD" EXACT [] +synonym: "microcystic corneal dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535477 +xref: OMIM:121820 +xref: ORDO:98956 +is_a: DOID:0060440 ! epithelial and subepithelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:17:01Z + +[Term] +id: DOID:0060448 +name: Fleck corneal dystrophy +subset: DO_MGI_slim +synonym: "FCD" EXACT [] +synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C563256 +xref: OMIM:121850 +xref: ORDO:98970 +xref: UMLS_CUI:C1562113 +is_a: DOID:0060442 ! stromal dystrophy +created_by: elvira +creation_date: 2015-10-16T17:20:34Z + +[Term] +id: DOID:0060449 +name: gelatinous drop-like corneal dystrophy +subset: DO_MGI_slim +synonym: "corneal amyloidosis" EXACT [] +synonym: "GDCD" EXACT [] +synonym: "primary familial amyloidosis of the cornea" EXACT [] +synonym: "subepithelial amyloidosis of the cornea" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535480 +xref: OMIM:204870 +xref: ORDO:98957 +xref: UMLS_CUI:C0339273 +is_a: DOID:0060440 ! epithelial and subepithelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:26:37Z + +[Term] +id: DOID:0060450 +name: Lisch epithelial corneal dystrophy +subset: DO_MGI_slim +synonym: "band-shaped and whorled microcystic " EXACT [] +synonym: "LECD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C567588 +xref: OMIM:300778 +xref: ORDO:98955 +is_a: DOID:0060440 ! epithelial and subepithelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:42:58Z + +[Term] +id: DOID:0060451 +name: Meesmann corneal dystrophy +subset: DO_MGI_slim +synonym: "juvenile hereditary epithelial dystrophy" EXACT [] +synonym: "MECD" EXACT [] +synonym: "Stocker-Holt dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:D053559 +xref: OMIM:122100 +xref: ORDO:98954 +xref: UMLS_CUI:C0339277 +is_a: DOID:0060440 ! epithelial and subepithelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:45:27Z + +[Term] +id: DOID:0060452 +name: posterior amorphous corneal dystrophy +subset: DO_MGI_slim +synonym: "PACD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C567546 +xref: OMIM:612868 +xref: ORDO:98971 +is_a: DOID:0060442 ! stromal dystrophy +created_by: elvira +creation_date: 2015-10-16T17:48:04Z + +[Term] +id: DOID:0060453 +name: Reis-Bucklers corneal dystrophy +subset: DO_MGI_slim +synonym: "anterior limiting membrane dystrophy type I" EXACT [] +synonym: "corneal dystrophy of Bowman layer type I" EXACT [] +synonym: "geographic corneal dystrophy" EXACT [] +synonym: "granular corneal dystrophy type III" EXACT [] +synonym: "RBCD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535476 +xref: OMIM:608470 +xref: ORDO:98961 +xref: UMLS_CUI:C0339278 +is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy +created_by: elvira +creation_date: 2015-10-16T17:51:03Z + +[Term] +id: DOID:0060454 +name: subepithelial mucinous corneal dystrophy +subset: DO_MGI_slim +synonym: "SMCD" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C567547 +xref: OMIM:612867 +xref: ORDO:98959 +is_a: DOID:0060440 ! epithelial and subepithelial dystrophy +created_by: elvira +creation_date: 2015-10-16T17:55:14Z + +[Term] +id: DOID:0060455 +name: Thiel-Behnke corneal dystrophy +subset: DO_MGI_slim +synonym: "anterior limiting membrane dystrophy type II" EXACT [] +synonym: "corneal dystrophy honeycomb-shaped" EXACT [] +synonym: "corneal dystrophy of Bowman layer type II" EXACT [] +synonym: "TBCD" EXACT [] +synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535942 +xref: OMIM:602082 +xref: ORDO:98960 +xref: UMLS_CUI:C1562894 +is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy +created_by: elvira +creation_date: 2015-10-16T17:57:16Z + +[Term] +id: DOID:0060456 +name: Schnyder corneal dystrophy +subset: DO_MGI_slim +synonym: "corneal dystrophy crystalline of Schnyder" EXACT [] +synonym: "crystalline stromal dystrophy" EXACT [] +synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [] +synonym: "SCCD" EXACT [] +synonym: "Schnyder crystalline corneal dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C535475 +xref: OMIM:121800 +xref: ORDO:98967 +xref: UMLS_CUI:C0271287 +is_a: DOID:0060442 ! stromal dystrophy +created_by: elvira +creation_date: 2015-10-16T18:01:14Z + +[Term] +id: DOID:0060457 +name: posterior polymorphous corneal dystrophy +subset: DO_MGI_slim +synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [] +synonym: "PPCD" EXACT [] +synonym: "Schlichting dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: MSH:C562745 +xref: OMIM:122000 +xref: OMIM:609140 +xref: OMIM:609141 +xref: ORDO:98973 +is_a: DOID:0060443 ! endothelial dystrophy +created_by: elvira +creation_date: 2015-10-16T18:05:26Z + +[Term] +id: DOID:0060458 +name: chromosome 2q31.1 duplication syndrome +subset: DO_MGI_slim +xref: OMIM:613681 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-19T14:42:34Z + +[Term] +id: DOID:0060459 +name: chromosome 3q29 microduplication syndrome +subset: DO_MGI_slim +synonym: "3q29 microduplication" EXACT [] +synonym: "trisomy 3q29" EXACT [] +xref: ICD10CM:Q92.3 +xref: MSH:C567626 +xref: OMIM:611936 +xref: ORDO:251038 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-19T14:45:49Z + +[Term] +id: DOID:0060460 +name: chromosome 5p13 duplication syndrome +subset: DO_MGI_slim +synonym: "5p13 microduplication syndrome" EXACT [] +synonym: "trisomy 5p13" EXACT [] +xref: ICD10CM:Q92.3 +xref: OMIM:613174 +xref: ORDO:329802 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-19T15:25:26Z + +[Term] +id: DOID:0060461 +name: chromosome Xp11.23-p11.22 duplication syndrome +subset: DO_MGI_slim +synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [] +synonym: "trisomy Xp11.22-p11.23" EXACT [] +xref: ICD10CM:Q99.8 +xref: OMIM:300801 +xref: ORDO:217377 +is_a: DOID:0060429 ! chromosomal duplication syndrome +created_by: elvira +creation_date: 2015-10-19T15:29:51Z + +[Term] +id: DOID:0060462 +name: Desbuquois dysplasia +def: "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx." [PMID:19853239, PMID:21037275] +subset: DO_MGI_slim +synonym: "Desbuquois syndrome" EXACT [] +synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [] +xref: ICD10CM:Q78.8 +xref: MSH:C535943 +xref: OMIM:251450 +xref: OMIM:615777 +xref: ORDO:1425 +xref: UMLS_CUI:C0432242 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: elvira +creation_date: 2015-11-02T16:22:42Z + +[Term] +id: DOID:0060463 +name: NUT midline carcinoma +def: "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum." [PMID:21221870, PMID:25685583, PMID:26378054, PMID:26402248, url:https\://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https\://omim.org/entry/608749, url:https\://omim.org/entry/608963] +synonym: "nuclear protein in testis midline carcinoma" EXACT [] +xref: NCI:C45716 +xref: UMLS_CUI:C1707291 +is_a: DOID:305 ! carcinoma +created_by: elvira +creation_date: 2015-11-04T14:54:36Z + +[Term] +id: DOID:0060464 +name: Feingold syndrome +def: "An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation." [PMID:14518066, PMID:16906565, url:http\://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https\://en.wikipedia.org/wiki/Feingold_syndrome] +subset: DO_MGI_slim +synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [] +synonym: "FGLDS" EXACT [] +synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [] +synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [] +synonym: "MODED syndrome" EXACT [] +synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [] +synonym: "ODED syndrome" EXACT [] +xref: ICD10CM:Q87.8 +xref: MSH:C537734 +xref: OMIM:164280 +xref: OMIM:614326 +xref: ORDO:1305 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: elvira +creation_date: 2015-11-04T16:11:58Z + +[Term] +id: DOID:0060465 +name: fibrochondrogenesis +subset: DO_MGI_slim +xref: ICD10CM:Q77.7 +xref: MSH:C562524 +xref: OMIM:228520 +xref: OMIM:614524 +xref: ORDO:2021 +xref: UMLS_CUI:C0265282 +is_a: DOID:2256 ! osteochondrodysplasia +created_by: elvira +creation_date: 2015-11-04T16:24:41Z + +[Term] +id: DOID:0060466 +name: gingival fibromatosis +def: "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa." [PMID:11868160, PMID:17385395] +subset: DO_MGI_slim +synonym: "hereditary gingival fibromatosis" EXACT [] +synonym: "hereditary gingival hyperplasia" EXACT [] +xref: ICD10CM:K06.1 +xref: MSH:D005351 +xref: OMIM:135300 +xref: OMIM:605544 +xref: OMIM:609955 +xref: OMIM:611010 +xref: ORDO:2024 +xref: UMLS_CUI:C0399440 +is_a: DOID:3086 ! gingival overgrowth +created_by: elvira +creation_date: 2015-11-04T16:47:21Z + +[Term] +id: DOID:0060467 +name: humeroradial synostosis +subset: DO_MGI_slim +synonym: "humero-radial fusion" RELATED [] +xref: ICD10CM:Q74.0 +xref: OMIM:143050 +xref: OMIM:236400 +xref: ORDO:3265 +xref: UMLS_CUI:C0431800 +is_a: DOID:11971 ! synostosis +created_by: elvira +creation_date: 2015-11-11T21:29:39Z + +[Term] +id: DOID:0060468 +name: Holt-Oram syndrome +def: "An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb." [PMID:12223419, PMID:12436037, url:http\://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https\://en.wikipedia.org/wiki/Holt-Oram_syndrome] +synonym: "atrio-digital syndrome" EXACT [] +synonym: "atriodigital dysplasia" EXACT [] +synonym: "heart-hand syndrome" EXACT [] +xref: ICD10CM:Q87.2 +xref: MSH:C535326 +xref: OMIM:142900 +xref: ORDO:392 +xref: UMLS_CUI:C0265264 +is_a: DOID:0050736 ! autosomal dominant disease +created_by: elvira +creation_date: 2015-11-17T16:06:23Z + +[Term] +id: DOID:0060469 +name: Miller-Dieker lissencephaly syndrome +def: "A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients." [PMID:21239872, PMID:9473821, url:http\://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https\://en.wikipedia.org/wiki/Miller-Dieker_syndrome] +synonym: "MDS" EXACT [] +synonym: "Miller-Dieker syndrome" EXACT [] +xref: ICD10CM:Q04.3 +xref: OMIM:247200 +xref: ORDO:531 +xref: UMLS:C0265219 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-11-17T16:22:00Z + +[Term] +id: DOID:0060470 +name: salt and pepper syndrome +def: "An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation." [PMID:24026681] +synonym: "salt & pepper syndrome" EXACT [] +synonym: "salt-and-pepper syndrome" EXACT [] +xref: ORDO:370938 +is_a: DOID:0050737 ! autosomal recessive disease +created_by: elvira +creation_date: 2015-11-17T16:40:23Z + +[Term] +id: DOID:0060471 +name: fetal valproate syndrome +def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction." [PMID:17090909, PMID:25400349] +synonym: "fetal valproic acid syndrome" EXACT [] +xref: ICD10CM:Q86.8 +xref: MSH:C536525 +xref: OMIM:609442 +xref: ORDO:1906 +xref: UMLS_CUI:C0236026 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-11-17T16:47:50Z + +[Term] +id: DOID:0060472 +name: Kindler syndrome +def: "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling." [PMID:12668616, url:https\://en.wikipedia.org/wiki/Kindler_syndrome] +synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT [] +synonym: "poikiloderma of Kindler" EXACT [] +xref: MSH:C536321 +xref: OMIM:173650 +xref: ORDO:306539 +is_a: DOID:37 ! skin disease +created_by: elvira +creation_date: 2015-11-17T16:54:49Z + +[Term] +id: DOID:0060473 +name: Kabuki syndrome +def: "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects." [PMID:25281733, PMID:25972376, PMID:26512256, url:http\://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https\://en.wikipedia.org/wiki/Kabuki_syndrome] +subset: DO_MGI_slim +synonym: "Kabuki make up syndrome" EXACT [] +synonym: "KMS" EXACT [] +synonym: "Niikawa-Kuroki syndrome" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:C537705 +xref: OMIM:147920 +xref: OMIM:300867 +xref: ORDO:2322 +xref: UMLS_CUI:C0796004 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-11-18T16:21:35Z + +[Term] +id: DOID:0060474 +name: Chuvash polycythemia +subset: DO_MGI_slim +synonym: "autosomal recessive benign erythrocytosis" EXACT [] +synonym: "Chuvash erythromatosis" EXACT [] +synonym: "Chuvash type polycythemia" EXACT [] +xref: ICD10CM:D75.1 +xref: OMIM:263400 +xref: ORDO:238557 +is_a: DOID:10780 ! primary polycythemia +created_by: elvira +creation_date: 2015-11-18T16:42:50Z + +[Term] +id: DOID:0060475 +name: childhood onset epileptic encephalopathy +def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." [PMID:23708187, PMID:24207121, url:http\://omim.org/entry/615369] +synonym: "EEOC" EXACT [] +xref: OMIM:615369 +is_a: DOID:1827 ! idiopathic generalized epilepsy +created_by: elvira +creation_date: 2015-11-19T16:30:12Z + +[Term] +id: DOID:0060476 +name: Perlman syndrome +def: "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome." [PMID:18780370, PMID:22306653, url:https\://en.wikipedia.org/wiki/Perlman_syndrome] +synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [] +synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [] +synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [] +xref: ICD10CM:Q87.3 +xref: MSH:C536399 +xref: OMIM:267000 +xref: ORDO:2849 +is_a: DOID:225 ! syndrome +created_by: elvira +creation_date: 2015-11-20T16:04:30Z + +[Term] +id: DOID:0060478 +name: Zika fever +def: "A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes." [url: http\://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx, url: https\://en.wikipedia.org/wiki/Zika_fever] +xref: ICD10CM:A92.8 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:0060479 +name: Shwachman-Diamond syndrome +def: "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities." [PMID:18356737, PMID:22201042, url:http\://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, url:https\://en.wikipedia.org/wiki/Shwachman–Diamond_syndrome] +synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [] +synonym: "Shwachman syndrome" EXACT [] +synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [] +xref: ICD10CM:D61.0 +xref: MSH:C537330 +xref: OMIM:260400 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:0070001 +name: neoplastic disease +def: "A disease of cellular proliferation that results in an abnormal mass of tissue." [url:http\://en.wikipedia.org/wiki/Neoplasm] +is_obsolete: true + +[Term] +id: DOID:0070003 +name: blastoma +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells." [url:en.wikipedia.org/wiki/Blastoma] +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:0070004 +name: myeloma +def: "A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body." [url:http\://www.merck.com/mmhe/sec14/ch175/ch175c.html#sec14-ch175-ch175c-328] +is_a: DOID:4960 ! bone marrow cancer + +[Term] +id: DOID:0080000 +name: muscular disease +def: "A musculoskeletal system disease that affects the muscles." [url:http\://www.nlm.nih.gov/medlineplus/muscledisorders.html] +is_a: DOID:17 ! musculoskeletal system disease + +[Term] +id: DOID:0080001 +name: bone disease +alt_id: DOID:1290 +def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function." [url:http\://en.wikipedia.org/wiki/Bone_disease, url:http\://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf] +synonym: "skeletal disease" RELATED [] +xref: ICD10CM:M89.9 +xref: MSH:D001847 +xref: SNOMEDCT_US_2015_03_01:156814002 +xref: SNOMEDCT_US_2015_03_01:203524000 +xref: SNOMEDCT_US_2015_03_01:268126004 +xref: SNOMEDCT_US_2015_03_01:274145000 +xref: SNOMEDCT_US_2015_03_01:308147009 +xref: SNOMEDCT_US_2015_03_01:76069003 +xref: UMLS_CUI:C0005940 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:0080002 +name: autosomal dominant disease +is_obsolete: true + +[Term] +id: DOID:0080003 +name: autosomal recessive disease +is_obsolete: true + +[Term] +id: DOID:0080005 +name: bone remodeling disease +def: "A bone disease that results_in formation or resorption abnormalities located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_remodeling] +is_a: DOID:0080001 ! bone disease + +[Term] +id: DOID:0080006 +name: bone development disease +def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." [url:http\://en.wikipedia.org/wiki/Dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx] +is_a: DOID:0080001 ! bone disease + +[Term] +id: DOID:0080007 +name: bone deterioration disease +def: "A bone structure disease that results_in change or damage of structure located_in bone." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/004015.htm] +is_a: DOID:0080010 ! bone structure disease + +[Term] +id: DOID:0080008 +name: ischemic bone disease +def: "A bone disease that results_in an interruption of blood supply located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] +is_a: DOID:0080001 ! bone disease + +[Term] +id: DOID:0080009 +name: X-linked dominant disease +is_obsolete: true + +[Term] +id: DOID:0080010 +name: bone structure disease +def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure." [url:http\://en.wikipedia.org/wiki/Human_skeleton] +is_a: DOID:0080001 ! bone disease + +[Term] +id: DOID:0080011 +name: bone resorption disease +def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass." [url:http\://en.wikipedia.org/wiki/Bone_resorption, url:http\://www.ncbi.nlm.nih.gov/pubmed/11277085] +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:0080012 +name: X-linked recessive disease +is_obsolete: true + +[Term] +id: DOID:0080013 +name: mitochondrial disease +is_obsolete: true + +[Term] +id: DOID:0080014 +name: chromosomal disease +def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes." [url:http\://en.wikipedia.org/wiki/Chromosome_abnormality, url:http\://www.genome.gov/11508982#al-5, url:http\://www.rarechromo.org/html/chromosomesanddisorders.asp] +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:0080015 +name: physical disorder +def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Congenital_disorder] +is_a: DOID:4 ! disease + +[Term] +id: DOID:0080016 +name: spina bifida +is_a: DOID:0080074 ! neural tube defect + +[Term] +id: DOID:0080017 +name: olivopontocerebellar atrophy V +synonym: "OPCA type 5" EXACT [] +synonym: "OPCA with dementia and extrapyramidal signs" EXACT [] +is_obsolete: true + +[Term] +id: DOID:0080018 +name: dysbaric osteonecrosis +def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone." [url:http\://en.wikipedia.org/wiki/Dysbaric_osteonecrosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx] +synonym: "Caisson disease of bone" EXACT [] +synonym: "DON" EXACT [] +is_a: DOID:0080008 ! ischemic bone disease + +[Term] +id: DOID:0080019 +name: metaphyseal dysplasia +def: "An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone." [url:http\://en.wikipedia.org/wiki/Metaphyseal_dysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx] +subset: DO_MGI_slim +synonym: "Bakwin-Krida syndrome" EXACT [] +synonym: "Pyle's disease" EXACT [] +synonym: "Pyle-Cohn syndrome" EXACT [] +xref: OMIM:215050 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080020 +name: Jansen's metaphyseal chondrodysplasia +def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism." [url:http\://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype] +synonym: "Jansen Disease" EXACT [] +synonym: "Jansen metaphyseal chondrodysplasia" EXACT [] +synonym: "Jansen Metaphyseal Dysostosis" EXACT [] +synonym: "Murk Jansen Type Metaphyseal Chondrodysplasia" EXACT [] +is_a: DOID:0080019 ! metaphyseal dysplasia + +[Term] +id: DOID:0080021 +name: Schmid metaphyseal chondrodysplasia +def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs." [url:http\://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord960.html, url:http\://www.ncbi.nlm.nih.gov/omim/156500] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [] +synonym: "Schmid type metaphyseal dysplasia " EXACT [] +xref: OMIM:156500 +is_a: DOID:0080019 ! metaphyseal dysplasia + +[Term] +id: DOID:0080022 +name: McKusick type metaphyseal dysplasia +def: "A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair." [url:http\://children.webmd.com/mckusick-type-metaphyseal-chondrodysplasia, url:http\://www.cigna.com/healthinfo/nord636.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=15730, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McKusick%20Type%20Metaphyseal%20Chondrodysplasia] +synonym: "Cartilage-Hair Hypoplasia " EXACT [] +is_a: DOID:0080019 ! metaphyseal dysplasia + +[Term] +id: DOID:0080023 +name: Shwachman-Diamond type metaphyseal dysplasia +is_a: DOID:0080019 ! metaphyseal dysplasia + +[Term] +id: DOID:0080024 +name: Pyles dysplasia +is_obsolete: true + +[Term] +id: DOID:0080025 +name: spondyloepiphyseal dysplasia congenita +is_obsolete: true + +[Term] +id: DOID:0080026 +name: otospondylomegaepiphyseal dysplasia +def: "An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss." [url:http\://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, url:http\://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, url:http\://www.ncbi.nlm.nih.gov/omim/215150] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" EXACT [] +synonym: "NANCE-INSLEY SYNDROME" EXACT [] +synonym: "NANCE-SWEENEY CHONDRODYSPLASIA" EXACT [] +xref: OMIM:215150 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080027 +name: spondyloepimetaphyseal dysplasia +def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080028 +name: spondyloepimetaphyseal dysplasia, Strudwick type +def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:184250 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia + +[Term] +id: DOID:0080029 +name: autosomal recessive spinocerebellar ataxia 16 +xref: OMIM:615768 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080030 +name: spondyloepimetaphyseal dysplasia, Missouri type +def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities." [url:http\://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/602111, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:602111 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia + +[Term] +id: DOID:0080031 +name: fibrous dysplasia +def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue." [url:http\://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00083, url:http\://www.fibrousdysplasia.org/, url:http\://www.mayoclinic.com/health/fibrous-dysplasia/DS00991, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001234.htm] +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:0080032 +name: craniodiaphyseal dysplasia +def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal." [url:http\://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513] +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:0080033 +name: craniometaphyseal dysplasia +def: "An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs." [url:http\://children.webmd.com/craniometaphyseal-dysplasia, url:http\://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia] +comment: Xref MGI. +subset: DO_MGI_slim +xref: OMIM:122860 +xref: OMIM:123000 +xref: OMIM:218300 +xref: OMIM:218400 +xref: OMIM:614099 +xref: OMIM:614378 +xref: ORDO:1522 +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:0080034 +name: endosteal hyperostosis +def: "A hyperostosis of endosteal bone." [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx] +is_obsolete: true + +[Term] +id: DOID:0080036 +name: SOST-related sclerosing bone dysplasia +alt_id: DOID:0080035 +def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull." [url:http\://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx, url:http\://www.healthline.com/galecontent/sclerosing-bone-dysplasias, url:http\://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785, url:http\://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/269500, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152] +synonym: "van Buchem disease" EXACT [] +is_a: DOID:205 ! hyperostosis + +[Term] +id: DOID:0080037 +name: Worth's syndrome +def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." [url:http\://en.wikipedia.org/wiki/Worth_syndrome, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/144750] +synonym: "autosomal dominant endosteal hyperostosis" EXACT [] +synonym: "autosomal dominant osteosclerosis" EXACT [] +synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [] +synonym: "Worth syndrome" EXACT [] +is_a: DOID:205 ! hyperostosis + +[Term] +id: DOID:0080038 +name: pycnodysostosis +def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges." [url:http\://en.wikipedia.org/wiki/Pycnodysostosis, url:http\://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx, url:http\://www.medicinenet.com/pycnodysostosis/article.htm, url:http\://www.ncbi.nlm.nih.gov/omim/265800, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=571&Disease_Disease_Search_diseaseGroup=Pycnodysostosis&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Pycnodysostosis&title=Pycnodysostosis&search=Disease_Search_Simple] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080039 +name: axial osteomalacia +def: "An osteosclerosis that results_in coarsening located_in trabecular bone." [url:http\://en.wikipedia.org/wiki/Axial_osteomalacia, url:http\://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/109130] +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:0080040 +name: fibrogenesis imperfecta ossium +def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/7559718] +synonym: "Baker's disease" EXACT [] +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:0080041 +name: hypochondroplasia +def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.healthline.com/galecontent/hypochondroplasia, url:http\://www.mcllr.com/sinaibody.cfm?id=1523, url:http\://www.medterms.com/script/main/art.asp?articlekey=9068, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/, url:http\://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080042 +name: autosomal recessive spinocerebellar ataxia 18 +xref: OMIM:616204 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080043 +name: achondrogenesis +def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period." [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080044 +name: hypochondrogenesis +def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen." [url:http\://en.wikipedia.org/wiki/Hypochondrogenesis, url:http\://ghr.nlm.nih.gov/condition/hypochondrogenesis, url:http\://www.healthline.com/galecontent/hypochondrogenesis] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080045 +name: Kniest dysplasia +def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841, url:http\://www.ksginfo.org/kniest.html] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080046 +name: Stickler syndrome +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:108300 +xref: OMIM:184840 +xref: OMIM:604841 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:0080047 +name: pseudoachondroplasia +alt_id: DOID:14800 +def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "PSEUDOACHONDROPLASIA" EXACT [] +synonym: "pseudoachondroplastic dysplasia" EXACT [] +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC" EXACT [] +xref: OMIM:177170 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080048 +name: trichorhinophalangeal syndrome I +def: "A" [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/gene/TRPS1, url:http\://trpsa.org/trpsa_wp/] +is_obsolete: true + +[Term] +id: DOID:0080049 +name: acromesomelic dysplasia +def: "An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism." [url:http\://www.cigna.com/healthinfo/nord1087.html, url:http\://www.questdiagnostics.com/kbase/nord/nord1087.htm, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia, url:http\://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia] +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:0080050 +name: acromesomelic dysplasia, Maroteaux type +def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb." [pdf:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507, url:http\://www.ncbi.nlm.nih.gov/omim/602875] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:602875 +is_a: DOID:0080049 ! acromesomelic dysplasia + +[Term] +id: DOID:0080051 +name: acromesomelic dysplasia, Hunter-Thompson type +def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot." [pdf:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, url:http\://www.ncbi.nlm.nih.gov/omim/201250] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acromesomelic dwarfism" EXACT [] +xref: OMIM:201250 +is_a: DOID:0080049 ! acromesomelic dysplasia + +[Term] +id: DOID:0080052 +name: acromesomelic dysplasia, Grebe type +def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones." [pdf:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:http\://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098] +synonym: "GREBE CHONDRODYSPLASIA" EXACT [] +xref: OMIM:200700 +is_a: DOID:0080049 ! acromesomelic dysplasia + +[Term] +id: DOID:0080053 +name: Albright's hereditary osteodystrophy +def: "An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face." [pdf:http\://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf, url:http\://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770] +synonym: "Albright hereditary osteodystrophy" EXACT [] +synonym: "pseudohypoparathyroidism type 1a" EXACT [] +xref: OMIM:103580 +is_a: DOID:4184 ! pseudohypoparathyroidism + +[Term] +id: DOID:0080054 +name: achondrogenesis type IA +def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine." [url:http\://emedicine.medscape.com/article/941176-overview, url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A, url:http\://www.healthline.com/galecontent/achondrogenesis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "achondrogenesis Houston-Harris type" EXACT [] +xref: OMIM:200600 +is_a: DOID:0080043 ! achondrogenesis + +[Term] +id: DOID:0080055 +name: achondrogenesis type IB +def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "achondrogenesis Fraccaro type" EXACT [] +xref: OMIM:600972 +is_a: DOID:0080043 ! achondrogenesis + +[Term] +id: DOID:0080056 +name: achondrogenesis type II +def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis] +comment: OMIM mapping confirmed by DO. [SN]. +xref: OMIM:200610 +is_a: DOID:0080043 ! achondrogenesis + +[Term] +id: DOID:0080057 +name: autosomal recessive spinocerebellar ataxia 15 +xref: OMIM:615705 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080058 +name: autosomal recessive spinocerebellar ataxia 14 +xref: OMIM:615386 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080059 +name: autosomal recessive spinocerebellar ataxia 7 +xref: OMIM:609270 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080060 +name: autosomal recessive spinocerebellar ataxia 12 +xref: OMIM:614322 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080061 +name: autosomal recessive spinocerebellar ataxia 2 +xref: OMIM:213200 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080062 +name: autosomal recessive spinocerebellar ataxia 13 +xref: OMIM:614831 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080063 +name: autosomal recessive spinocerebellar ataxia 11 +xref: OMIM:614229 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080064 +name: autosomal recessive spinocerebellar ataxia 17 +xref: OMIM:616127 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080065 +name: autosomal recessive spinocerebellar ataxia 19 +xref: OMIM:616291 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080066 +name: autosomal recessive spinocerebellar ataxia 20 +xref: OMIM:616354 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia +created_by: lschriml +creation_date: 2015-10-07T14:55:44Z + +[Term] +id: DOID:0080067 +name: Charcot-Marie-Tooth disease type 5 +def: "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait." [url:http\://www.ncbi.nlm.nih.gov/pubmed/12601114, url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications] +synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [] +xref: OMIM:600361 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease +created_by: lschriml +creation_date: 2015-10-08T16:55:50Z + +[Term] +id: DOID:0080068 +name: Charcot-Marie-Tooth disease type 6 +def: "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity." [url:http\://www.ncbi.nlm.nih.gov/pubmed/26168012, url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications] +synonym: "hereditary motor and sensory neuropathy type 6" EXACT [] +xref: OMIM:601152 +xref: OMIM:616505 +is_a: DOID:10595 ! Charcot-Marie-Tooth disease +created_by: lschriml +creation_date: 2015-10-08T16:55:50Z + +[Term] +id: DOID:0080069 +name: Charcot-Marie-Tooth disease type 7 +def: "A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa." [url:http\://www.ncbi.nlm.nih.gov/pubmed/25491489] +is_a: DOID:10595 ! Charcot-Marie-Tooth disease +created_by: lschriml +creation_date: 2015-10-08T16:55:50Z + +[Term] +id: DOID:0080070 +name: inclusion-cell disease +synonym: "I-cell disease" EXACT [] +synonym: "mucolipidosis II" EXACT [] +xref: OMIM:252500 +is_a: DOID:3211 ! lysosomal storage disease +created_by: lschriml +creation_date: 2015-10-08T17:58:48Z + +[Term] +id: DOID:0080071 +name: pseudo-Hurler polydystrophy +synonym: "mucolipidosis III " EXACT [] +xref: OMIM:252600 +xref: OMIM:252605 +is_a: DOID:3211 ! lysosomal storage disease +created_by: lschriml +creation_date: 2015-10-08T17:58:48Z + +[Term] +id: DOID:0080072 +name: neuronal intestinal dysplasia +xref: OMIM:243180 +xref: OMIM:601223 +is_a: DOID:5353 ! colonic disease +created_by: lschriml +creation_date: 2015-10-19T14:28:30Z + +[Term] +id: DOID:0080073 +name: spina bifida occulta +is_a: DOID:0080016 ! spina bifida +created_by: lschriml +creation_date: 2015-10-19T14:35:47Z + +[Term] +id: DOID:0080074 +name: neural tube defect +xref: OMIM:301410 +xref: OMIM:601634 +is_a: DOID:0080015 ! physical disorder +created_by: lschriml +creation_date: 2015-10-19T14:41:42Z + +[Term] +id: DOID:0080075 +name: Neu-Laxova syndrome 2 +xref: OMIM:616038 +is_a: DOID:0050721 ! serine deficiency +created_by: lschriml +creation_date: 2015-10-19T14:47:01Z + +[Term] +id: DOID:0080076 +name: Neu-Laxova syndrome 1 +xref: OMIM:256520 +is_a: DOID:0050721 ! serine deficiency +created_by: lschriml +creation_date: 2015-10-19T14:47:35Z + +[Term] +id: DOID:0080077 +name: hypophosphatemic nephrolithiasis/osteoporosis 1 +xref: OMIM:612286 +is_a: DOID:11705 ! impaired renal function disease +created_by: lschriml +creation_date: 2015-10-19T14:52:42Z + +[Term] +id: DOID:0080078 +name: hypophosphatemic nephrolithiasis/osteoporosis 2 +xref: OMIM:612287 +is_a: DOID:11705 ! impaired renal function disease +created_by: lschriml +creation_date: 2015-10-19T14:52:42Z + +[Term] +id: DOID:0080079 +name: nonsyndromic congenital nail disorder 1 +synonym: "twenty-nail dystrophy" EXACT [] +xref: OMIM:161050 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:13:08Z + +[Term] +id: DOID:0080080 +name: nonsyndromic congenital nail disorder 2 +xref: OMIM:149300 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080081 +name: nonsyndromic congenital nail disorder 3 +xref: OMIM:151600 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080082 +name: nonsyndromic congenital nail disorder 4 +xref: OMIM:206800 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080083 +name: nonsyndromic congenital nail disorder 5 +xref: OMIM:164800 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080084 +name: nonsyndromic congenital nail disorder 6 +xref: OMIM:107000 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080085 +name: nonsyndromic congenital nail disorder 7 +xref: OMIM:605779 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080086 +name: nonsyndromic congenital nail disorder 8 +xref: OMIM:607523 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080087 +name: nonsyndromic congenital nail disorder 9 +xref: OMIM:614149 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080088 +name: nonsyndromic congenital nail disorder 10 +xref: OMIM:614157 +is_a: DOID:4123 ! nail disease +created_by: lschriml +creation_date: 2015-11-09T15:18:20Z + +[Term] +id: DOID:0080089 +name: tubular aggregate myopathy +subset: DO_MGI_slim +xref: OMIM:160565 +xref: OMIM:615883 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:53:39Z + +[Term] +id: DOID:0080090 +name: reducing body myopathy +subset: DO_MGI_slim +xref: OMIM:300717 +xref: OMIM:300718 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:54:50Z + +[Term] +id: DOID:0080091 +name: spheroid body myopathy +subset: DO_MGI_slim +xref: OMIM:182920 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:57:47Z + +[Term] +id: DOID:0080092 +name: myofibrillar myopathy 1 +subset: DO_MGI_slim +synonym: "desminopathy" EXACT [] +xref: OMIM:601419 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080093 +name: myofibrillar myopathy 2 +subset: DO_MGI_slim +synonym: "alpha-b crystallinopathy" EXACT [] +xref: OMIM:608810 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080094 +name: myofibrillar myopathy 3 +subset: DO_MGI_slim +synonym: "myotilinopathy" EXACT [] +xref: OMIM:609200 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080095 +name: myofibrillar myopathy 4 +subset: DO_MGI_slim +synonym: "zaspopathy" EXACT [] +xref: OMIM:609452 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080096 +name: myofibrillar myopathy 5 +subset: DO_MGI_slim +synonym: "filaminopathy" EXACT [] +xref: OMIM:609524 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080097 +name: myofibrillar myopathy 6 +subset: DO_MGI_slim +synonym: "BAG3-related myofibrillar myopathy" RELATED [] +xref: OMIM:612954 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080098 +name: myofibrillar myopathy 7 +subset: DO_MGI_slim +synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [] +xref: OMIM:613869 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T16:59:22Z + +[Term] +id: DOID:0080099 +name: myopathy, lactic acidosis, and sideroblastic anemia +subset: DO_MGI_slim +xref: OMIM:500011 +xref: OMIM:600462 +xref: OMIM:613561 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T17:17:42Z + +[Term] +id: DOID:0080100 +name: congenital myopathy +subset: DO_MGI_slim +xref: OMIM:255300 +is_a: DOID:423 ! myopathy +created_by: lschriml +creation_date: 2015-11-10T17:25:05Z + +[Term] +id: DOID:0080101 +name: Compton-North congenital myopathy +subset: DO_MGI_slim +xref: OMIM:612540 +is_a: DOID:0080100 ! congenital myopathy +created_by: lschriml +creation_date: 2015-11-10T17:27:15Z + +[Term] +id: DOID:0080102 +name: congenital fiber-type disproportion +xref: OMIM:255310 +xref: OMIM:300580 +is_a: DOID:0080100 ! congenital myopathy +created_by: lschriml +creation_date: 2015-11-10T17:27:15Z + +[Term] +id: DOID:0080103 +name: cylindrical spirals myopathy +subset: DO_MGI_slim +xref: OMIM:160990 +is_a: DOID:0080100 ! congenital myopathy +created_by: lschriml +creation_date: 2015-11-10T17:27:15Z + +[Term] +id: DOID:100 +name: intestinal infectious disease +alt_id: DOID:10960 +alt_id: DOID:12509 +alt_id: DOID:5270 +def: "An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites." [url:http\://en.wikipedia.org/wiki/Intestine] +comment: Updating outdated UMLS CUI. +synonym: "bacterial enteritis" EXACT [] +xref: ICD10CM:A00-A09 +xref: ICD9CM:001-009.99 +xref: SNOMEDCT_US_2015_03_01:127322007 +xref: SNOMEDCT_US_2015_03_01:186086003 +xref: SNOMEDCT_US_2015_03_01:186171006 +xref: SNOMEDCT_US_2015_03_01:187266003 +xref: SNOMEDCT_US_2015_03_01:266071000 +xref: SNOMEDCT_US_2015_03_01:266172005 +xref: SNOMEDCT_US_2015_03_01:266180003 +xref: UMLS_CUI:C0178238 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10000 +name: visual cortex disorder due to neoplasm +is_obsolete: true + +[Term] +id: DOID:10003 +name: sensorineural hearing loss +alt_id: DOID:11053 +alt_id: DOID:12112 +alt_id: DOID:12114 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "central hearing loss" EXACT [ICD9CM_2006:389.14] +synonym: "High frequency deafness" EXACT [SNOMEDCT_2005_07_31:194421002] +synonym: "High Frequency Hearing Loss" EXACT [NCI2004_11_17:C34663] +synonym: "high-frequency hearing loss" EXACT [] +synonym: "Perceptive deafness [diagnos]" EXACT [SNOMEDCT_2005_07_31:267770004] +synonym: "Perceptive hearing loss" EXACT [SNOMEDCT_2005_07_31:194421002] +synonym: "Perceptive hearing loss or deafness" EXACT [MTHICD9_2006:389.1] +synonym: "Sensorineural Deafness" EXACT [NCI2004_11_17:C26739] +synonym: "Sensory hearing loss" EXACT [ICD9CM_2006:389.11] +xref: ICD10CM:H90.5 +xref: ICD10CM:H91.9 +xref: ICD9CM:389.1 +xref: ICD9CM:389.10 +xref: ICD9CM:389.14 +xref: MSH:D006313 +xref: MSH:D006316 +xref: MSH:D006319 +xref: NCI:C26739 +xref: NCI:C34662 +xref: NCI:C34663 +xref: OMIM:304400 +xref: SNOMEDCT_US_2015_03_01:155256000 +xref: SNOMEDCT_US_2015_03_01:194421002 +xref: SNOMEDCT_US_2015_03_01:194427003 +xref: SNOMEDCT_US_2015_03_01:232326009 +xref: SNOMEDCT_US_2015_03_01:267770004 +xref: SNOMEDCT_US_2015_03_01:60700002 +xref: SNOMEDCT_US_2015_03_01:68467004 +xref: UMLS_CUI:C0018776 +xref: UMLS_CUI:C0018780 +xref: UMLS_CUI:C0018784 +is_a: DOID:2952 ! inner ear disease + +[Term] +id: DOID:10007 +name: respiratory syncytial virus bronchiolitis +alt_id: DOID:10006 +alt_id: DOID:2941 +def: "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production." [url:http\://en.wikipedia.org/wiki/Bronchiolitis, url:http\://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf] +synonym: "acute bronchiolitis due to RSV" EXACT [MTHICD9_2006:466.11] +synonym: "capillary pneumonia" EXACT [] +synonym: "viral bronchiolitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1001 +name: labor complications +synonym: "Labour complications" EXACT [SNOMEDCT_2005_07_31:267342003] +is_obsolete: true + +[Term] +id: DOID:10011 +name: thyroid lymphoma +xref: NCI:C5265 +xref: UMLS_CUI:C1336753 +is_a: DOID:1781 ! thyroid cancer + +[Term] +id: DOID:10012 +name: metastatic malignant neoplasm to the thyroid +synonym: "metastatic tumor to the Thyroid" EXACT [NCI2004_11_17:C7509] +synonym: "secondary malignant neoplasm of thyroid gland" EXACT [SNOMEDCT_2005_07_31:94634005] +is_obsolete: true + +[Term] +id: DOID:10013 +name: polyglandular activity in multiple endocrine adenomatosis +is_obsolete: true + +[Term] +id: DOID:10015 +name: polyglandular dysfunction +is_obsolete: true + +[Term] +id: DOID:10016 +name: multiple endocrine neoplasia type 2B +def: "An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities." [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MEN type IIB" EXACT [NCI2004_11_17:C3227] +synonym: "MEN2B" EXACT [] +synonym: "mucosal neuroma syndrome" EXACT [CSP2005:2009-6300] +synonym: "multiple endocrine neoplasia type 2b" EXACT [] +synonym: "Multiple endocrine neoplasia, type 3" EXACT [SNOMEDCT_2005_07_31:61530001] +synonym: "Wagenmann-Froboese syndrome" EXACT [] +xref: ICD10CM:E31.23 +xref: ICD9CM:258.03 +xref: MSH:D018814 +xref: NCI:C3227 +xref: OMIM:162300 +xref: ORDO:247709 +xref: SNOMEDCT_US_2015_03_01:61530001 +xref: UMLS_CUI:C0025269 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:10017 +name: multiple endocrine neoplasia type 1 +def: "An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas." [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.ncbi.nlm.nih.gov/pubmed/25509899, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000398.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MEN type I" EXACT [NCI2004_11_17:C3225] +synonym: "multiple endocrine neoplasia type 1" EXACT [] +synonym: "Wermer syndrome" EXACT [] +synonym: "Wermer's syndrome" EXACT [MTHICD9_2006:258.0] +xref: ICD10CM:E31.21 +xref: ICD9CM:258.01 +xref: MSH:D018761 +xref: NCI:C3225 +xref: OMIM:131100 +xref: ORDO:652 +xref: SNOMEDCT_US_2015_03_01:190566000 +xref: SNOMEDCT_US_2015_03_01:30664006 +xref: UMLS_CUI:C0025267 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:10018 +name: papilledema associated with increased intracranial pressure +is_obsolete: true + +[Term] +id: DOID:1002 +name: endometritis +xref: MSH:D004716 +xref: NCI:C26764 +xref: SNOMEDCT_US_2015_03_01:155975003 +xref: SNOMEDCT_US_2015_03_01:198192000 +xref: SNOMEDCT_US_2015_03_01:266652001 +xref: SNOMEDCT_US_2015_03_01:266653006 +xref: SNOMEDCT_US_2015_03_01:78623009 +xref: UMLS_CUI:C0014179 +is_a: DOID:1005 ! endometrial disease + +[Term] +id: DOID:10020 +name: ampulla of Vater cancer +synonym: "malignant tumour of ampulla of vater" EXACT [SNOMEDCT_2005_07_31:93668007] +xref: ICD10CM:C24.1 +xref: ICD9CM:156.2 +xref: NCI:C3536 +xref: SNOMEDCT_US_2015_03_01:363417006 +xref: SNOMEDCT_US_2015_03_01:93668007 +xref: UMLS_CUI:C0153454 +is_a: DOID:10021 ! duodenum cancer + +[Term] +id: DOID:10021 +name: duodenum cancer +alt_id: DOID:6072 +def: "A small intestine cancer that is located_in the beginning section of the small intestine." [url:http\://en.wikipedia.org/wiki/Duodenal_cancer] +subset: TopNodes_DOcancerslim +synonym: "cancer of duodenum" EXACT [NCI2004_11_17:C4803] +synonym: "Duodenal cancer" EXACT [SNOMEDCT_2005_07_31:363403002] +synonym: "duodenal neoplasm" EXACT [] +xref: ICD10CM:C17.0 +xref: ICD9CM:152.0 +xref: MSH:D004379 +xref: NCI:C4803 +xref: NCI:C9328 +xref: SNOMEDCT_US_2015_03_01:154555009 +xref: SNOMEDCT_US_2015_03_01:254570009 +xref: SNOMEDCT_US_2015_03_01:269615000 +xref: SNOMEDCT_US_2015_03_01:363403002 +xref: UMLS_CUI:C0153426 +xref: UMLS_CUI:C0541912 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:10022 +name: ampulla of vater neoplasm +synonym: "tumor of the ampulla of vater" EXACT [NCI2004_11_17:C4443] +xref: NCI:C4443 +xref: SNOMEDCT_US_2015_03_01:126858004 +xref: UMLS_CUI:C0345916 +is_a: DOID:1737 ! duodenal benign neoplasm + +[Term] +id: DOID:10024 +name: migraine with aura +alt_id: DOID:10025 +def: "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon." [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "classic migraine" EXACT [] +xref: ICD10CM:G43.1 +xref: ICD10CM:G43.109 +xref: ICD9CM:346.0 +xref: MSH:D020325 +xref: OMIM:609179 +xref: OMIM:609670 +xref: SNOMEDCT_US_2015_03_01:155047002 +xref: SNOMEDCT_US_2015_03_01:4473006 +xref: UMLS_CUI:C0154723 +is_a: DOID:6364 ! migraine + +[Term] +id: DOID:10027 +name: tabes dorsalis +def: "A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Posterior spinal sclerosis" EXACT [MTHICD9_2006:094.0] +synonym: "Tabes dorsalis - neurosyphilis" EXACT [SNOMEDCT_2005_07_31:186885003] +xref: ICD10CM:A52.11 +xref: ICD9CM:094.0 +xref: MSH:D013606 +xref: NCI:C35057 +xref: SNOMEDCT_US_2015_03_01:154384001 +xref: SNOMEDCT_US_2015_03_01:186885003 +xref: SNOMEDCT_US_2015_03_01:266134000 +xref: SNOMEDCT_US_2015_03_01:266210001 +xref: SNOMEDCT_US_2015_03_01:2844004 +xref: SNOMEDCT_US_2015_03_01:315826004 +xref: SNOMEDCT_US_2015_03_01:316841006 +xref: SNOMEDCT_US_2015_03_01:51928006 +xref: UMLS_CUI:C0039223 +is_a: DOID:9988 ! tertiary neurosyphilis + +[Term] +id: DOID:1003 +name: pelvic inflammatory disease +synonym: "female pelvic inflammatory disease" EXACT [SNOMEDCT_2005_07_31:155967009] +synonym: "Inflammatory disease of female pelvic organs and/or tissues" EXACT [SNOMEDCT_2005_07_31:198130006] +synonym: "PID" EXACT [MTHICD9_2006:614.9] +xref: ICD10CM:N70-N77 +xref: ICD10CM:N73.9 +xref: ICD9CM:614-616.99 +xref: ICD9CM:614.9 +xref: MSH:D000292 +xref: NCI:C3889 +xref: SNOMEDCT_US_2015_03_01:155967009 +xref: SNOMEDCT_US_2015_03_01:155968004 +xref: SNOMEDCT_US_2015_03_01:155974004 +xref: SNOMEDCT_US_2015_03_01:155986001 +xref: SNOMEDCT_US_2015_03_01:198130006 +xref: SNOMEDCT_US_2015_03_01:198131005 +xref: SNOMEDCT_US_2015_03_01:198178006 +xref: SNOMEDCT_US_2015_03_01:198244005 +xref: SNOMEDCT_US_2015_03_01:198570007 +xref: SNOMEDCT_US_2015_03_01:266584000 +xref: SNOMEDCT_US_2015_03_01:266648001 +xref: SNOMEDCT_US_2015_03_01:266651008 +xref: SNOMEDCT_US_2015_03_01:37518008 +xref: UMLS_CUI:C0242172 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:10030 +name: interstitial emphysema +xref: ICD10CM:J98.2 +xref: ICD9CM:518.1 +xref: NCI:C34571 +xref: SNOMEDCT_US_2015_03_01:11211003 +xref: SNOMEDCT_US_2015_03_01:390898003 +xref: SNOMEDCT_US_2015_03_01:77690003 +xref: UMLS_CUI:C1370824 +is_a: DOID:9675 ! pulmonary emphysema + +[Term] +id: DOID:10031 +name: compensatory emphysema +xref: ICD10CM:J98.3 +xref: ICD9CM:518.2 +xref: SNOMEDCT_US_2015_03_01:33325001 +xref: UMLS_CUI:C0155918 +is_a: DOID:9675 ! pulmonary emphysema + +[Term] +id: DOID:10032 +name: hyperlucent lung +xref: MSH:D019568 +xref: UMLS_CUI:C0524799 +is_a: DOID:9675 ! pulmonary emphysema + +[Term] +id: DOID:10033 +name: cycloplegia +synonym: "Ciliary muscle paresis" EXACT [SNOMEDCT_2005_07_31:68158006] +synonym: "Cycloplegic paralysis of accommodation" EXACT [SNOMEDCT_2005_07_31:232141000] +synonym: "Paresis of accommodation" EXACT [ICD9CM_2006:367.51] +xref: ICD10CM:H52.52 +xref: ICD9CM:367.51 +xref: SNOMEDCT_US_2015_03_01:232141000 +xref: SNOMEDCT_US_2015_03_01:255335004 +xref: SNOMEDCT_US_2015_03_01:68158006 +xref: UMLS_CUI:C0235238 +is_a: DOID:10034 ! eye accommodation disease + +[Term] +id: DOID:10034 +name: eye accommodation disease +xref: ICD10CM:H52.5 +xref: ICD9CM:367.5 +xref: SNOMEDCT_US_2015_03_01:155137002 +xref: SNOMEDCT_US_2015_03_01:193631008 +xref: SNOMEDCT_US_2015_03_01:54552008 +xref: UMLS_CUI:C0152198 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:10035 +name: asymptomatic neurosyphilis +def: "A tertiary neurosyphilis that results_in mild meningitis." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD10CM:A52.2 +xref: ICD9CM:094.3 +xref: MSH:D009494 +xref: SNOMEDCT_US_2015_03_01:37754005 +xref: UMLS_CUI:C0153167 +is_a: DOID:9988 ! tertiary neurosyphilis + +[Term] +id: DOID:10038 +name: old burn scar-related melanoma of skin +is_obsolete: true + +[Term] +id: DOID:10039 +name: late congenital syphilis +alt_id: DOID:10796 +def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." [url:http\://en.wikipedia.org/wiki/Late_congenital_syphilis, url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "juvenile neurosyphilis" EXACT [] +xref: ICD10CM:A50.4 +xref: ICD10CM:A50.40 +xref: ICD10CM:A50.5 +xref: ICD10CM:A50.59 +xref: ICD9CM:090.4 +xref: ICD9CM:090.40 +xref: ICD9CM:090.5 +xref: MSH:D009494 +xref: SNOMEDCT_US_2015_03_01:186836008 +xref: SNOMEDCT_US_2015_03_01:186837004 +xref: SNOMEDCT_US_2015_03_01:186839001 +xref: SNOMEDCT_US_2015_03_01:187350002 +xref: SNOMEDCT_US_2015_03_01:4243004 +xref: SNOMEDCT_US_2015_03_01:82323002 +xref: UMLS_CUI:C0153132 +xref: UMLS_CUI:C0153136 +is_a: DOID:9856 ! congenital syphilis + +[Term] +id: DOID:10040 +name: malignant eyelid melanoma +xref: NCI:C4358 +xref: SNOMEDCT_US_2015_03_01:231834005 +xref: UMLS_CUI:C0339116 +is_a: DOID:8923 ! skin melanoma + +[Term] +id: DOID:10041 +name: dysplastic nevus syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial atypical multiple mole-melanoma" EXACT [] +synonym: "FAMM syndrome" EXACT [NCI2004_11_17:C27264] +xref: MSH:D004416 +xref: OMIM:155600 +xref: OMIM:155601 +xref: UMLS_CUI:C0205747 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:10042 +name: regressing skin melanoma +synonym: "regressing malignant melanoma of the skin" EXACT [NCI2004_11_17:C7089] +is_obsolete: true + +[Term] +id: DOID:10044 +name: balloon cell malignant melanoma +xref: NCI:C4227 +xref: SNOMEDCT_US_2015_03_01:39274007 +xref: SNOMEDCT_US_2015_03_01:403922007 +xref: UMLS_CUI:C0334426 +is_a: DOID:8923 ! skin melanoma + +[Term] +id: DOID:10045 +name: malignant giant pigmented nevus melanoma +synonym: "malignant melanoma in congenital melanocytic naevus" EXACT [SNOMEDCT_2005_07_31:75931002] +synonym: "skin melanoma in Giant Pigmented nevus" EXACT [NCI2004_11_17:C4235] +is_obsolete: true + +[Term] +id: DOID:10047 +name: nodular malignant melanoma +def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule." [url:http\://en.wikipedia.org/wiki/Nodular_melanoma, url:http\://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/] +subset: DO_cancer_slim +synonym: "nodular melanoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2142002] +xref: NCI:C4225 +xref: SNOMEDCT_US_2015_03_01:2142002 +xref: SNOMEDCT_US_2015_03_01:254731001 +xref: UMLS_CUI:C0334424 +is_a: DOID:8923 ! skin melanoma + +[Term] +id: DOID:10048 +name: malignant junctional nevus melanoma +synonym: "malignant melanoma in junctional nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:915007] +synonym: "melanoma in Junctional nevus" EXACT [NCI2004_11_17:C4232] +is_obsolete: true + +[Term] +id: DOID:10049 +name: desmoplastic melanoma +def: "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck." [url:http\://www.cancer.gov/dictionary/?CdrID=321367] +is_obsolete: true + +[Term] +id: DOID:1005 +name: endometrial disease +xref: NCI:C3504 +xref: SNOMEDCT_US_2015_03_01:418632009 +xref: UMLS_CUI:C0151622 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:10053 +name: malignant skin blue nevus +synonym: "Blue nevus-Like melanoma" EXACT [NCI2004_11_17:C4240] +is_obsolete: true + +[Term] +id: DOID:10054 +name: skin amelanotic melanoma +synonym: "skin amelanotic malignant melanoma" EXACT [] +xref: NCI:C4633 +xref: SNOMEDCT_US_2015_03_01:276751004 +xref: UMLS_CUI:C0349515 +is_a: DOID:8923 ! skin melanoma + +[Term] +id: DOID:10059 +name: Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:10066 +name: syphilitic acoustic neuritis +def: "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved." [url:http\://archotol.ama-assn.org/cgi/content/summary/40/4/261] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:10069 +name: subglottis neoplasm +synonym: "Subglottic tumor" EXACT [NCI2004_11_17:C4426] +xref: NCI:C4426 +xref: SNOMEDCT_US_2015_03_01:126696001 +xref: UMLS_CUI:C0345746 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:10070 +name: larynx leiomyoma +xref: NCI:C6027 +xref: UMLS_CUI:C1334370 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:10071 +name: larynx squamous papilloma +xref: NCI:C7742 +xref: SNOMEDCT_US_2015_03_01:269637007 +xref: UMLS_CUI:C0240164 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:10073 +name: syphilitic meningitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD9CM:094.2 +xref: MSH:C536775 +xref: SNOMEDCT_US_2015_03_01:14968007 +xref: SNOMEDCT_US_2015_03_01:186887006 +xref: SNOMEDCT_US_2015_03_01:301086002 +xref: UMLS_CUI:C0153166 +is_a: DOID:9470 ! bacterial meningitis + +[Term] +id: DOID:10074 +name: hymenolepiasis +def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." [url:http\://en.wikipedia.org/wiki/Hymenolepiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001378.htm] +synonym: "dwarf tapeworm infection " EXACT [] +synonym: "Hymenolepis infectious disease" EXACT [MTHICD9_2006:123.6] +xref: ICD10CM:B71.0 +xref: ICD9CM:123.6 +xref: MSH:D006925 +xref: NCI:C84768 +xref: SNOMEDCT_US_2015_03_01:187153007 +xref: SNOMEDCT_US_2015_03_01:44917000 +xref: UMLS_CUI:C0020413 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:10075 +name: diphyllobothriasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." [url:http\://en.wikipedia.org/wiki/Diphyllobothrium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm] +synonym: "Diphyllobothrium infection" EXACT [MTHICD9_2006:123.4] +synonym: "fish tapeworm" EXACT [] +xref: ICD10CM:B70.0 +xref: ICD9CM:123.4 +xref: MSH:D004169 +xref: SNOMEDCT_US_2015_03_01:187151009 +xref: SNOMEDCT_US_2015_03_01:359799003 +xref: SNOMEDCT_US_2015_03_01:49047003 +xref: UMLS_CUI:C0012561 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:10079 +name: cysticercosis +alt_id: DOID:10078 +alt_id: DOID:14424 +def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." [url:http\://en.wikipedia.org/wiki/Cysticercosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm] +synonym: "intestinal taenia solium infection" EXACT [SNOMEDCT_2005_07_31:266160004] +synonym: "neurocysticercosis" EXACT [] +synonym: "Pork tapeworm infection" EXACT [MTHICD9_2006:123.0] +synonym: "Tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [SNOMEDCT_2005_07_31:187147007] +synonym: "tenia solium infectious disease" EXACT [] +xref: ICD10CM:B69 +xref: ICD10CM:B69.9 +xref: ICD9CM:123.1 +xref: MSH:D003551 +xref: NCI:C34520 +xref: SNOMEDCT_US_2015_03_01:105684008 +xref: SNOMEDCT_US_2015_03_01:187527007 +xref: SNOMEDCT_US_2015_03_01:59051007 +xref: UMLS_CUI:C0010678 +is_a: DOID:0050596 ! taeniasis + +[Term] +id: DOID:10080 +name: sparganosis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." [url:http\://en.wikipedia.org/wiki/Sparganosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm] +synonym: "Infection by Sparganum" EXACT [MTHICD9_2006:123.5] +synonym: "Sparganosis [larval diphyllobothriasis]" EXACT [ICD9CM_2006:123.5] +xref: ICD10CM:B70.1 +xref: ICD9CM:123.5 +xref: MSH:D013031 +xref: NCI:C35030 +xref: SNOMEDCT_US_2015_03_01:187152002 +xref: SNOMEDCT_US_2015_03_01:31659000 +xref: UMLS_CUI:C0037753 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:10081 +name: syphilitic encephalitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilis encephalitis" EXACT [SNOMEDCT_2005_07_31:192699001] +xref: ICD9CM:094.81 +xref: SNOMEDCT_US_2015_03_01:192699001 +xref: SNOMEDCT_US_2015_03_01:192700000 +xref: SNOMEDCT_US_2015_03_01:26135000 +xref: UMLS_CUI:C0153168 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:10087 +name: gastric leiomyoma +synonym: "leiomyoma of the stomach" EXACT [NCI2004_11_17:C3876] +xref: NCI:C3876 +xref: SNOMEDCT_US_2015_03_01:276812001 +xref: UMLS_CUI:C0238440 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:10095 +name: intracranial abscess +xref: ICD9CM:324.0 +xref: NCI:C34734 +xref: SNOMEDCT_US_2015_03_01:192738001 +xref: SNOMEDCT_US_2015_03_01:192746000 +xref: SNOMEDCT_US_2015_03_01:27614006 +xref: UMLS_CUI:C0021874 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:10111 +name: Congenital or acquired abnormality of vagina, with delivery +is_obsolete: true + +[Term] +id: DOID:10112 +name: sleeping sickness +def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances." [url:http\://en.wikipedia.org/wiki/African_trypanosomiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001362.htm, url:http\://www.who.int/mediacentre/factsheets/fs259/en/] +subset: zoonotic_infectious_disease +synonym: "African sleeping sickness" EXACT [CSP2005:2214-6161] +synonym: "African trypanosomiasis" EXACT [MTH:NOCODE] +xref: ICD10CM:B56 +xref: ICD10CM:B56.9 +xref: ICD9CM:086.5 +xref: KEGG:05143 +xref: MSH:D014353 +xref: NCI:C84541 +xref: SNOMEDCT_US_2015_03_01:186818008 +xref: SNOMEDCT_US_2015_03_01:187512007 +xref: SNOMEDCT_US_2015_03_01:27031003 +xref: SNOMEDCT_US_2015_03_01:78940002 +xref: UMLS_CUI:C0041228 +is_a: DOID:10113 ! trypanosomiasis + +[Term] +id: DOID:10113 +name: trypanosomiasis +def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." [url:http\://en.wikipedia.org/wiki/Trypanosomiasis] +xref: ICD10CM:B57.2 +xref: ICD9CM:086 +xref: ICD9CM:086.9 +xref: MSH:D014352 +xref: SNOMEDCT_US_2015_03_01:154375001 +xref: SNOMEDCT_US_2015_03_01:186819000 +xref: SNOMEDCT_US_2015_03_01:266205000 +xref: SNOMEDCT_US_2015_03_01:78940002 +xref: UMLS_CUI:C0041227 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:10114 +name: Trypanosoma brucei rhodesiense infectious disease +def: "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm] +subset: zoonotic_infectious_disease +synonym: "East African trypanosomiasis" EXACT [] +synonym: "Rhodesian sleeping sickness" EXACT [MTHICD9_2006:086.4] +synonym: "Rhodesian trypanosomiasis" EXACT [ICD9CM_2006:086.4] +synonym: "trypanosoma rhodesiense infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10116 +name: Trypanosoma brucei gambiense infectious disease +def: "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm] +subset: zoonotic_infectious_disease +synonym: "Gambian sleeping sickness" EXACT [MTHICD9_2006:086.3] +synonym: "Gambian Trypanosomiasis" EXACT [NCI2004_11_17:C35084] +synonym: "West African trypanosomiasis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10120 +name: eyelid degenerative disease +xref: ICD9CM:374.50 +xref: SNOMEDCT_US_2015_03_01:1112003 +xref: SNOMEDCT_US_2015_03_01:193957009 +xref: UMLS_CUI:C0155209 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:10121 +name: degenerative disorder of eyelid and periocular area +is_obsolete: true + +[Term] +id: DOID:10122 +name: hyperpigmentation of eyelid +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "dyspigmentation of eyelid" EXACT [] +xref: ICD10CM:H02.71 +xref: ICD9CM:374.52 +xref: MSH:C562400 +xref: OMIM:145100 +xref: SNOMEDCT_US_2015_03_01:41115008 +xref: UMLS_CUI:C0155211 +is_a: DOID:10123 ! pigmentation disease + +[Term] +id: DOID:10123 +name: pigmentation disease +xref: ICD9CM:709.09 +xref: UMLS_CUI:C0375489 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:10124 +name: corneal disease +alt_id: DOID:2284 +xref: ICD10CM:H18.9 +xref: ICD9CM:371.9 +xref: MSH:D003316 +xref: NCI:C26731 +xref: SNOMEDCT_US_2015_03_01:15250008 +xref: SNOMEDCT_US_2015_03_01:155160005 +xref: SNOMEDCT_US_2015_03_01:193794007 +xref: SNOMEDCT_US_2015_03_01:193856004 +xref: SNOMEDCT_US_2015_03_01:267733008 +xref: UMLS_CUI:C0010034 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:10125 +name: acute hydrops keratoconus +synonym: "Keratoconus, acute hydrops" EXACT [ICD9CM_2006:371.62] +xref: ICD9CM:371.62 +xref: SNOMEDCT_US_2015_03_01:111523009 +xref: UMLS_CUI:C0339286 +is_a: DOID:10126 ! keratoconus + +[Term] +id: DOID:10126 +name: keratoconus +def: "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." [url:http\://en.wikipedia.org/wiki/Keratoconus, url:http\://ghr.nlm.nih.gov/glossary=keratoconus] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "conical cornea" EXACT [] +xref: ICD10CM:H18.6 +xref: ICD10CM:H18.60 +xref: ICD9CM:371.6 +xref: ICD9CM:371.60 +xref: MSH:D007640 +xref: NCI:C26806 +xref: OMIM:148300 +xref: OMIM:608586 +xref: OMIM:608932 +xref: OMIM:609271 +xref: OMIM:614622 +xref: OMIM:614623 +xref: OMIM:614628 +xref: OMIM:614629 +xref: ORDO:156071 +xref: SNOMEDCT_US_2015_03_01:155160005 +xref: SNOMEDCT_US_2015_03_01:193843006 +xref: SNOMEDCT_US_2015_03_01:193846003 +xref: SNOMEDCT_US_2015_03_01:267733008 +xref: SNOMEDCT_US_2015_03_01:65636009 +xref: UMLS_CUI:C0022578 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:10127 +name: cerebral artery occlusion +xref: ICD9CM:434 +xref: ICD9CM:434.9 +xref: SNOMEDCT_US_2015_03_01:155400001 +xref: SNOMEDCT_US_2015_03_01:155403004 +xref: SNOMEDCT_US_2015_03_01:195188006 +xref: SNOMEDCT_US_2015_03_01:20059004 +xref: SNOMEDCT_US_2015_03_01:266255008 +xref: SNOMEDCT_US_2015_03_01:286956007 +xref: UMLS_CUI:C0028790 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:10128 +name: venous insufficiency +def: "A vein disease that is characterized by impaired flow of blood through the veins." [url:http\://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000203.htm] +synonym: "peripheral venous insufficiency" EXACT [SNOMEDCT_2005_07_31:20696009] +xref: ICD9CM:459.81 +xref: MSH:D014689 +xref: SNOMEDCT_US_2015_03_01:20696009 +xref: UMLS_CUI:C0042485 +is_a: DOID:866 ! vein disease + +[Term] +id: DOID:10131 +name: psychologic vaginismus +synonym: "Functional vaginismus" EXACT [MTHICD9_2006:306.51] +synonym: "Non-organic vaginismus" EXACT [SNOMEDCT_2005_07_31:192469003] +synonym: "Psychogenic Vaginismus" EXACT [NCI2004_11_17:C35113] +xref: ICD10CM:F52.5 +xref: ICD9CM:306.51 +xref: MSH:D052065 +xref: NCI:C35113 +xref: SNOMEDCT_US_2015_03_01:154924008 +xref: SNOMEDCT_US_2015_03_01:192469003 +xref: SNOMEDCT_US_2015_03_01:268773000 +xref: SNOMEDCT_US_2015_03_01:71787009 +xref: UMLS_CUI:C0042266 +is_a: DOID:10132 ! psychosexual disorder + +[Term] +id: DOID:10132 +name: psychosexual disorder +xref: ICD9CM:302.79 +xref: UMLS_CUI:C0033951 +is_a: DOID:0060043 ! sexual disorder + +[Term] +id: DOID:10138 +name: xerophthalmia +synonym: "Conjunctival xerosis" EXACT [ICD9CM_2006:372.53] +synonym: "xerophthalmus" EXACT [CSP2005:1114-9931] +xref: ICD10CM:E50.7 +xref: ICD10CM:H04.12 +xref: ICD9CM:375.15 +xref: MSH:D014985 +xref: NCI:C34503 +xref: SNOMEDCT_US_2015_03_01:155167008 +xref: SNOMEDCT_US_2015_03_01:193887002 +xref: SNOMEDCT_US_2015_03_01:193980001 +xref: SNOMEDCT_US_2015_03_01:363677007 +xref: SNOMEDCT_US_2015_03_01:46152009 +xref: SNOMEDCT_US_2015_03_01:69316005 +xref: UMLS_CUI:C0043349 +is_a: DOID:10140 ! dry eye syndrome + +[Term] +id: DOID:10139 +name: conjunctival degeneration +xref: ICD10CM:H11.10 +xref: ICD9CM:372.50 +xref: SNOMEDCT_US_2015_03_01:193886006 +xref: SNOMEDCT_US_2015_03_01:40787005 +xref: UMLS_CUI:C0155160 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:10140 +name: dry eye syndrome +synonym: "Tear film insufficiency" EXACT [SNOMEDCT_2005_07_31:193980001] +xref: ICD10CM:H04.12 +xref: MSH:D015352 +xref: NCI:C34553 +xref: SNOMEDCT_US_2015_03_01:1249004 +xref: SNOMEDCT_US_2015_03_01:155182003 +xref: SNOMEDCT_US_2015_03_01:193980001 +xref: SNOMEDCT_US_2015_03_01:46152009 +xref: UMLS_CUI:C0013238 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:10141 +name: asthenopia +synonym: "Accommodative asthenopia (finding)" EXACT [SNOMEDCT_2005_07_31:46640001] +synonym: "Accommodative strain" EXACT [SNOMEDCT_2005_07_31:193645002] +xref: ICD10CM:H53.14 +xref: MSH:D001248 +xref: SNOMEDCT_US_2015_03_01:193645002 +xref: SNOMEDCT_US_2015_03_01:46640001 +xref: SNOMEDCT_US_2015_03_01:70323002 +xref: UMLS_CUI:C0004095 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:10142 +name: Chlamydia trachomatis peritonitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "venereal disease of peritoneum due to Chlamydia trachomatis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10144 +name: secondary malignant neoplasm to the thymus +synonym: "metastatic tumor to the Thymus" EXACT [NCI2004_11_17:C4903] +is_obsolete: true + +[Term] +id: DOID:10145 +name: metastases to mediastinum +synonym: "metastatic tumor to the mediastinum" EXACT [NCI2004_11_17:C3578] +synonym: "secondary malignant neoplasm of mediastinum" EXACT [ICD9CM_2006:197.1] +is_obsolete: true + +[Term] +id: DOID:10146 +name: thymus lymphoma +xref: NCI:C6451 +xref: UMLS_CUI:C1336745 +is_a: DOID:3277 ! thymus cancer + +[Term] +id: DOID:10149 +name: long bones of lower limb cancer +def: "A bone cancer that is manifested in the long bones of the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] +synonym: "malignant neoplasm of long bones of leg" EXACT [SNOMEDCT_2005_07_31:187959005] +xref: ICD10CM:C40.2 +xref: ICD9CM:170.7 +xref: SNOMEDCT_US_2015_03_01:187959005 +xref: SNOMEDCT_US_2015_03_01:187963003 +xref: UMLS_CUI:C0153517 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:10150 +name: lower limb cancer +def: "A malignant neoplasm that is manifested in the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] +synonym: "cancer of lower limb" RELATED [] +synonym: "malignant neoplasm of lower limb" EXACT [ICD9CM_2006:195.5] +is_obsolete: true + +[Term] +id: DOID:10151 +name: malignant neoplasm of short bones of lower limb +synonym: "malignant neoplasm of short bone of lower limb" EXACT [SNOMEDCT_2005_07_31:94003005] +synonym: "malignant neoplasm of short bones of leg" EXACT [SNOMEDCT_2005_07_31:187964009] +xref: ICD10CM:C40.3 +xref: ICD9CM:170.8 +xref: SNOMEDCT_US_2015_03_01:187964009 +xref: SNOMEDCT_US_2015_03_01:187979002 +xref: SNOMEDCT_US_2015_03_01:269468002 +xref: SNOMEDCT_US_2015_03_01:94003005 +xref: UMLS_CUI:C0153518 +is_a: DOID:10149 ! long bones of lower limb cancer + +[Term] +id: DOID:10152 +name: Meckel's diverticulum cancer +synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [SNOMEDCT_2005_07_31:93890009] +synonym: "Meckel diverticulum cancer" EXACT [] +xref: ICD9CM:152.3 +xref: SNOMEDCT_US_2015_03_01:187752007 +xref: SNOMEDCT_US_2015_03_01:93890009 +xref: UMLS_CUI:C0153429 +is_a: DOID:10153 ! ileum cancer + +[Term] +id: DOID:10153 +name: ileum cancer +def: "A small intestine cancer that is located_in the ileum." [url:http\://en.wikipedia.org/wiki/Ileum] +subset: TopNodes_DOcancerslim +synonym: "ileal neoplasm" EXACT [] +synonym: "malignant neoplasm of ileum" EXACT [ICD9CM_2006:152.2] +xref: ICD10CM:C17.2 +xref: ICD9CM:152.2 +xref: SNOMEDCT_US_2015_03_01:363405009 +xref: SNOMEDCT_US_2015_03_01:93832004 +xref: UMLS_CUI:C0153428 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:10154 +name: small intestine cancer +def: "An intestinal cancer that is located_in the small intestine." [url:http\://en.wikipedia.org/wiki/Small_intestine] +xref: ICD10CM:C17 +xref: ICD10CM:C17.9 +xref: ICD9CM:152.9 +xref: NCI:C7523 +xref: SNOMEDCT_US_2015_03_01:154555009 +xref: SNOMEDCT_US_2015_03_01:187755009 +xref: SNOMEDCT_US_2015_03_01:269615000 +xref: SNOMEDCT_US_2015_03_01:363509000 +xref: SNOMEDCT_US_2015_03_01:94048009 +xref: UMLS_CUI:C0153425 +is_a: DOID:10155 ! intestinal cancer + +[Term] +id: DOID:10155 +name: intestinal cancer +def: "A gastrointestinal system cancer that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Intestine] +subset: TopNodes_DOcancerslim +synonym: "malignant intestinal tumors" EXACT [NCI2004_11_17:C4572] +synonym: "malignant neoplasm of intestine" EXACT [SNOMEDCT_2005_07_31:93838000] +xref: ICD10CM:C26.0 +xref: ICD9CM:159.0 +xref: MSH:D007414 +xref: NCI:C4572 +xref: SNOMEDCT_US_2015_03_01:187819006 +xref: SNOMEDCT_US_2015_03_01:190089002 +xref: SNOMEDCT_US_2015_03_01:363508008 +xref: SNOMEDCT_US_2015_03_01:93838000 +xref: UMLS_CUI:C0346627 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:10156 +name: ileal neoplasm +synonym: "Ileal tumor" EXACT [NCI2004_11_17:C3130] +synonym: "tumor of ileum (disorder)" EXACT [SNOMEDCT_2005_07_31:254576003] +xref: MSH:D007078 +xref: NCI:C3130 +xref: SNOMEDCT_US_2015_03_01:126835002 +xref: SNOMEDCT_US_2015_03_01:254576003 +xref: UMLS_CUI:C0020876 +is_a: DOID:7505 ! small intestine neoplasm + +[Term] +id: DOID:10159 +name: osteonecrosis +alt_id: DOID:10160 +alt_id: DOID:10161 +alt_id: DOID:10162 +alt_id: DOID:10163 +alt_id: DOID:10164 +alt_id: DOID:4128 +alt_id: DOID:8380 +alt_id: DOID:86 +def: "An ischemic bone disease that results_in necrosis located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] +synonym: "Avascular necrosis of bone" EXACT [NCI2004_11_17:C34841] +synonym: "bone necrosis" EXACT [CSP2005:2715-1650] +xref: ICD10CM:M87 +xref: ICD10CM:M87.9 +xref: ICD9CM:732.3 +xref: ICD9CM:733.41 +xref: ICD9CM:733.42 +xref: ICD9CM:733.43 +xref: ICD9CM:733.44 +xref: ICD9CM:733.49 +xref: MSH:D010020 +xref: NCI:C34404 +xref: NCI:C34841 +xref: NCI:C34880 +xref: NCI:C35226 +xref: NCI:C35517 +xref: SNOMEDCT_US_2015_03_01:156837008 +xref: SNOMEDCT_US_2015_03_01:17926002 +xref: SNOMEDCT_US_2015_03_01:203487006 +xref: SNOMEDCT_US_2015_03_01:240196003 +xref: SNOMEDCT_US_2015_03_01:264540002 +xref: SNOMEDCT_US_2015_03_01:29281007 +xref: SNOMEDCT_US_2015_03_01:34686004 +xref: SNOMEDCT_US_2015_03_01:397758007 +xref: SNOMEDCT_US_2015_03_01:43453000 +xref: SNOMEDCT_US_2015_03_01:62100001 +xref: SNOMEDCT_US_2015_03_01:83453001 +xref: SNOMEDCT_US_2015_03_01:86217007 +xref: UMLS_CUI:C0003977 +xref: UMLS_CUI:C0027543 +xref: UMLS_CUI:C0029445 +xref: UMLS_CUI:C0158442 +xref: UMLS_CUI:C0158449 +xref: UMLS_CUI:C0158450 +xref: UMLS_CUI:C0158451 +xref: UMLS_CUI:C0158452 +xref: UMLS_CUI:C0745048 +is_a: DOID:0080008 ! ischemic bone disease + +[Term] +id: DOID:1016 +name: primary tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:10173 +name: tuberculous myelitis +alt_id: DOID:6356 +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculoma of spinal cord" EXACT [] +synonym: "Tuberculous abscess of spinal cord" EXACT [ICD9CM_2006:013.5] +is_obsolete: true + +[Term] +id: DOID:10174 +name: lacrimal passage granuloma +synonym: "Granuloma of lacrimal passages" EXACT [ICD9CM_2006:375.81] +synonym: "Granuloma of lacrimal passages (disorder)" EXACT [SNOMEDCT_2005_07_31:82836006] +synonym: "lacrimal passage granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:194001006] +xref: ICD10CM:H04.81 +xref: ICD9CM:375.81 +xref: SNOMEDCT_US_2015_03_01:194001006 +xref: SNOMEDCT_US_2015_03_01:417563003 +xref: SNOMEDCT_US_2015_03_01:82836006 +xref: UMLS_CUI:C0155253 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:10175 +name: optic papillitis +synonym: "papillitis" EXACT [CSP2005:2042-6609] +xref: ICD10CM:H35.81 +xref: ICD10CM:H46.0 +xref: ICD10CM:H47.1 +xref: ICD10CM:H47.10 +xref: ICD10CM:H47.11 +xref: ICD9CM:362.83 +xref: ICD9CM:377.0 +xref: ICD9CM:377.00 +xref: ICD9CM:377.01 +xref: ICD9CM:377.31 +xref: MSH:D010211 +xref: NCI:C3307 +xref: SNOMEDCT_US_2015_03_01:111526001 +xref: SNOMEDCT_US_2015_03_01:155187009 +xref: SNOMEDCT_US_2015_03_01:193426002 +xref: SNOMEDCT_US_2015_03_01:194038006 +xref: SNOMEDCT_US_2015_03_01:194041002 +xref: SNOMEDCT_US_2015_03_01:248487006 +xref: SNOMEDCT_US_2015_03_01:3170006 +xref: SNOMEDCT_US_2015_03_01:423341008 +xref: SNOMEDCT_US_2015_03_01:423488006 +xref: SNOMEDCT_US_2015_03_01:6141006 +xref: SNOMEDCT_US_2015_03_01:73221001 +xref: UMLS_CUI:C0030353 +xref: UMLS_CUI:C0155288 +xref: UMLS_CUI:C0242420 +xref: UMLS_CUI:C0919308 +is_a: DOID:1210 ! optic neuritis + +[Term] +id: DOID:10176 +name: neuroretinitis +synonym: "Focal retinitis and retinochoroiditis, juxtapapillary" EXACT [ICD9CM_2006:363.05] +synonym: "Juxtapapillary focal retinitis AND retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:46497009] +synonym: "Papilloretinitis" EXACT [SNOMEDCT_2005_07_31:410471004] +xref: ICD10CM:H30.9 +xref: MSH:D012173 +xref: SNOMEDCT_US_2015_03_01:410471004 +xref: UMLS_CUI:C0154874 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:10177 +name: malignant hypertensive renal disease +xref: SNOMEDCT_US_2015_03_01:65443008 +xref: UMLS_CUI:C0155593 +is_a: DOID:1073 ! renal hypertension + +[Term] +id: DOID:10182 +name: diabetic peripheral angiopathy +xref: ICD9CM:250.7 +xref: SNOMEDCT_US_2015_03_01:127014009 +xref: SNOMEDCT_US_2015_03_01:190354007 +xref: SNOMEDCT_US_2015_03_01:190361006 +xref: SNOMEDCT_US_2015_03_01:267383000 +xref: SNOMEDCT_US_2015_03_01:267473003 +xref: SNOMEDCT_US_2015_03_01:982001 +xref: UMLS_CUI:C0011871 +is_a: DOID:9352 ! type 2 diabetes mellitus + +[Term] +id: DOID:10183 +name: endobronchial lipoma +xref: NCI:C5063 +xref: UMLS_CUI:C0852937 +is_a: DOID:3906 ! bronchial neoplasm + +[Term] +id: DOID:10184 +name: spindle cell lipoma +def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men." [url:http\://en.wikipedia.org/wiki/Lipoma] +synonym: "spindle cell Lipoma" EXACT [NCI2004_11_17:C4254] +synonym: "spindle cell lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404058008] +synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:27313007] +xref: NCI:C4254 +xref: SNOMEDCT_US_2015_03_01:27313007 +xref: SNOMEDCT_US_2015_03_01:404058008 +xref: UMLS_CUI:C0334474 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:10187 +name: esophageal lipoma +synonym: "Lipoma of esophagus" EXACT [NCI2004_11_17:C5701] +xref: NCI:C5701 +xref: UMLS_CUI:C1333455 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:10188 +name: skin lipoma +alt_id: DOID:10198 +alt_id: DOID:3943 +synonym: "Cutaneous Lipoma" EXACT [NCI2004_11_17:C4616] +synonym: "cutaneous lipomatous tumor" EXACT [] +synonym: "lipoma of face" EXACT [] +synonym: "Lipoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:255187008] +synonym: "Lipoma of skin and subcutaneous tissue of face" EXACT [ICD9CM_2006:214.0] +synonym: "Lipoma of skin and subcutaneous tissue of face (disorder)" EXACT [SNOMEDCT_2005_07_31:93159009] +synonym: "Lipoma of skin and subcutaneous tissue of face NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188989000] +synonym: "Lipomatous tumor of skin" EXACT [NCI2004_11_17:C5566] +xref: ICD9CM:214.0 +xref: NCI:C4616 +xref: NCI:C5566 +xref: SNOMEDCT_US_2015_03_01:188989000 +xref: SNOMEDCT_US_2015_03_01:255187008 +xref: SNOMEDCT_US_2015_03_01:93159009 +xref: UMLS_CUI:C0153968 +xref: UMLS_CUI:C0347394 +xref: UMLS_CUI:C1333174 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:1019 +name: osteomyelitis +alt_id: DOID:1018 +alt_id: DOID:1020 +alt_id: DOID:10281 +alt_id: DOID:10282 +alt_id: DOID:10692 +alt_id: DOID:10860 +alt_id: DOID:1164 +alt_id: DOID:11788 +alt_id: DOID:11959 +alt_id: DOID:12011 +alt_id: DOID:13673 +alt_id: DOID:13674 +alt_id: DOID:13675 +alt_id: DOID:13678 +alt_id: DOID:13684 +alt_id: DOID:13737 +alt_id: DOID:14003 +alt_id: DOID:14100 +alt_id: DOID:14166 +alt_id: DOID:2249 +alt_id: DOID:2250 +alt_id: DOID:5858 +alt_id: DOID:9456 +def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow." [url:http\://en.wikipedia.org/wiki/Osteomyelitis, url:http\://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx, url:http\://www.mayoclinic.com/health/osteomyelitis/DS00759, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000437.htm] +xref: ICD9CM:730.01 +xref: ICD9CM:730.1 +xref: ICD9CM:730.10 +xref: ICD9CM:730.11 +xref: SNOMEDCT_US_2015_03_01:156791003 +xref: SNOMEDCT_US_2015_03_01:156800002 +xref: SNOMEDCT_US_2015_03_01:203181001 +xref: SNOMEDCT_US_2015_03_01:203183003 +xref: SNOMEDCT_US_2015_03_01:203205002 +xref: SNOMEDCT_US_2015_03_01:40970001 +xref: UMLS_CUI:C0008707 +xref: UMLS_CUI:C0158372 +xref: UMLS_CUI:C0158381 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:10190 +name: liver lipoma +synonym: "Lipoma of the Liver" EXACT [NCI2004_11_17:C5750] +xref: NCI:C5750 +xref: UMLS_CUI:C1333970 +is_a: DOID:916 ! liver neoplasm + +[Term] +id: DOID:10191 +name: autosomal deletion syndrome +is_obsolete: true + +[Term] +id: DOID:10192 +name: pleomorphic lipoma +def: "A lipoma that is characterized by floret giant cells with overlapping nuclei." [url:http\://en.wikipedia.org/wiki/Pleomorphic_lipoma] +synonym: "Pleomorphic Lipoma" EXACT [NCI2004_11_17:C3703] +synonym: "Pleomorphic lipoma" EXACT [SNOMEDCT_2005_07_31:189783001] +synonym: "Pleomorphic lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404059000] +synonym: "Pleomorphic lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21396005] +xref: MSH:D008067 +xref: NCI:C3703 +xref: SNOMEDCT_US_2015_03_01:189783001 +xref: SNOMEDCT_US_2015_03_01:21396005 +xref: SNOMEDCT_US_2015_03_01:404059000 +xref: UMLS_CUI:C0205823 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:10193 +name: classic type lipoma +xref: NCI:C27530 +xref: UMLS_CUI:C1333059 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:10194 +name: kidney lipoma +synonym: "Lipoma of kidney" EXACT [NCI2004_11_17:C5101] +xref: NCI:C5101 +xref: UMLS_CUI:C1335744 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:10195 +name: pleural lipoma +synonym: "Lipoma of Pleura" EXACT [NCI2004_11_17:C6644] +xref: NCI:C6644 +xref: UMLS_CUI:C1335434 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:10199 +name: breast lipoma +synonym: "breast Lipoma" EXACT [NCI2004_11_17:C4647] +synonym: "Lipoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:276891009] +xref: NCI:C4647 +xref: SNOMEDCT_US_2015_03_01:276891009 +xref: UMLS_CUI:C0349565 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:10200 +name: chest wall lipoma +synonym: "Lipoma of the Chest Wall" EXACT [NCI2004_11_17:C6719] +xref: NCI:C6719 +xref: SNOMEDCT_US_2015_03_01:448270009 +xref: UMLS_CUI:C1332932 +is_a: DOID:0060097 ! thoracic benign neoplasm + +[Term] +id: DOID:10201 +name: gallbladder lipoma +synonym: "Lipoma of the gallbladder" EXACT [NCI2004_11_17:C5835] +xref: NCI:C5835 +xref: UMLS_CUI:C1333747 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:10202 +name: lipoma of intrathoracic organ +synonym: "Lipoma of intrathoracic organs (disorder)" EXACT [SNOMEDCT_2005_07_31:93158001] +is_obsolete: true + +[Term] +id: DOID:10203 +name: external auditory meatus lipoma +synonym: "Lipoma of external auditory meatus (disorder)" EXACT [SNOMEDCT_2005_07_31:188988008] +synonym: "Lipoma of the External ear" EXACT [NCI2004_11_17:C4618] +xref: NCI:C4618 +xref: SNOMEDCT_US_2015_03_01:188988008 +xref: UMLS_CUI:C0347423 +is_a: DOID:0060096 ! sensory organ benign neoplasm + +[Term] +id: DOID:10204 +name: lipoma of intra-abdominal organ +synonym: "Lipoma of intra-abdominal organs (disorder)" EXACT [SNOMEDCT_2005_07_31:93157006] +is_obsolete: true + +[Term] +id: DOID:10205 +name: axillary lipoma +def: "An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue." [url:http\://en.wikipedia.org/wiki/Axilla, url:http\://en.wikipedia.org/wiki/Lipoma] +synonym: "Lipoma of axilla (disorder)" EXACT [SNOMEDCT_2005_07_31:188993006] +xref: NCI:C35419 +xref: SNOMEDCT_US_2015_03_01:188993006 +xref: UMLS_CUI:C0347429 +is_a: DOID:0060097 ! thoracic benign neoplasm + +[Term] +id: DOID:10206 +name: lipoma of spermatic cord +synonym: "Lipoma of spermatic cord" EXACT [ICD9CM_2006:214.4] +synonym: "Lipoma of spermatic cord (disorder)" EXACT [SNOMEDCT_2005_07_31:93162007] +synonym: "Spermatic Cord Lipoma" EXACT [NCI2004_11_17:C3606] +xref: ICD9CM:214.4 +xref: NCI:C3606 +xref: SNOMEDCT_US_2015_03_01:93162007 +xref: UMLS_CUI:C0153972 +is_a: DOID:10207 ! paratesticular lipoma + +[Term] +id: DOID:10207 +name: paratesticular lipoma +xref: NCI:C6384 +xref: UMLS_CUI:C1335348 +is_a: DOID:0050622 ! reproductive organ benign neoplasm + +[Term] +id: DOID:10208 +name: chondroid lipoma +def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women." [url:http\://en.wikipedia.org/wiki/Lipoma] +synonym: "Chondroid lipoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404065000] +synonym: "Chondroid lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128746001] +xref: NCI:C6503 +xref: SNOMEDCT_US_2015_03_01:128746001 +xref: SNOMEDCT_US_2015_03_01:404065000 +xref: UMLS_CUI:C1266131 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:10209 +name: extrahepatic bile duct lipoma +synonym: "Lipoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5854] +xref: NCI:C5854 +xref: UMLS_CUI:C1333509 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:10210 +name: calculus of gallbladder and bile duct without cholecystitis +alt_id: DOID:10212 +synonym: "calculus of gallbladder and bile duct without cholecystitis, with obstruction" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10211 +name: cholelithiasis +xref: EFO:0004799 +xref: ICD9CM:574.5 +xref: SNOMEDCT_US_2015_03_01:197397004 +xref: SNOMEDCT_US_2015_03_01:266475002 +xref: UMLS_CUI:C0006739 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:1022 +name: pinta disease +alt_id: DOID:1021 +alt_id: DOID:10490 +alt_id: DOID:1813 +alt_id: DOID:3573 +def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic." [url:http\://emedicine.medscape.com/article/225576-overview#a0104] +subset: gram-negative_bacterial_infectious_disease +xref: ICD10CM:A67 +xref: ICD10CM:A67.0 +xref: ICD10CM:A67.1 +xref: ICD10CM:A67.2 +xref: ICD10CM:A67.3 +xref: ICD10CM:A67.9 +xref: ICD9CM:103 +xref: ICD9CM:103.0 +xref: ICD9CM:103.1 +xref: ICD9CM:103.2 +xref: ICD9CM:103.3 +xref: ICD9CM:103.9 +xref: MSH:D010874 +xref: NCI:C85011 +xref: SNOMEDCT_US_2015_03_01:186975003 +xref: SNOMEDCT_US_2015_03_01:186976002 +xref: SNOMEDCT_US_2015_03_01:187373005 +xref: SNOMEDCT_US_2015_03_01:22064009 +xref: SNOMEDCT_US_2015_03_01:240685007 +xref: SNOMEDCT_US_2015_03_01:4669001 +xref: SNOMEDCT_US_2015_03_01:68131004 +xref: SNOMEDCT_US_2015_03_01:68202005 +xref: SNOMEDCT_US_2015_03_01:7251008 +xref: SNOMEDCT_US_2015_03_01:73594001 +xref: UMLS_CUI:C0031946 +xref: UMLS_CUI:C0153241 +xref: UMLS_CUI:C0153242 +xref: UMLS_CUI:C0153243 +xref: UMLS_CUI:C0153244 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:10220 +name: failed induction +alt_id: DOID:10221 +synonym: "Failed mechanical induction of labor, antepartum" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10222 +name: polymyositis +is_obsolete: true + +[Term] +id: DOID:10223 +name: dermatomyositis +def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction." [url:http\://en.wikipedia.org/wiki/Dermatomyositis, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis] +comment: MSH:C538250 added from NeuroDevNet [WAK]. +synonym: "Amyopathic dermatomyositis" RELATED [MSH:C538250] +synonym: "dermatopolymyositis" EXACT [] +synonym: "Dermatopolymyositis, unspecified" EXACT [SNOMEDCT_2005_07_31:201448000] +synonym: "Polymyositis with skin involvement" EXACT [MTHICD9_2006:710.3] +xref: ICD10CM:M33 +xref: ICD10CM:M33.9 +xref: ICD10CM:M33.90 +xref: ICD9CM:710.3 +xref: MSH:D003882 +xref: NCI:C26744 +xref: SNOMEDCT_US_2015_03_01:156456005 +xref: SNOMEDCT_US_2015_03_01:201445002 +xref: SNOMEDCT_US_2015_03_01:201448000 +xref: SNOMEDCT_US_2015_03_01:203795006 +xref: SNOMEDCT_US_2015_03_01:38826005 +xref: SNOMEDCT_US_2015_03_01:396230008 +xref: UMLS_CUI:C0011633 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:10226 +name: single episode manic disorder +is_obsolete: true + +[Term] +id: DOID:10229 +name: partial epilepsy, with impairment of consciousness, with intractable epilepsy +is_obsolete: true + +[Term] +id: DOID:1023 +name: borderline leprosy +def: "A leprosy that results in small numerous red irregularly shaped plaques." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Borderline_leprosy] +subset: gram-positive_bacterial_infectious_disease +synonym: "Borderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:400008009] +synonym: "Borderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:50521002] +synonym: "Borderline leprosy [group B]" EXACT [ICD9CM_2006:030.3] +synonym: "Borderline or dimorphous leprosy" EXACT [MTHICD9_2006:030.3] +synonym: "Midborderline leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:400154003] +xref: ICD10CM:A30.3 +xref: ICD9CM:030.3 +xref: MSH:D015439 +xref: SNOMEDCT_US_2015_03_01:400008009 +xref: SNOMEDCT_US_2015_03_01:50521002 +xref: UMLS_CUI:C0023346 +is_a: DOID:1024 ! leprosy + +[Term] +id: DOID:10230 +name: aortic atherosclerosis +synonym: "Aortic atherosclerosis" EXACT [SNOMEDCT_2005_07_31:195252007] +synonym: "Aortic atherosclerosis" EXACT [SNOMEDCT_2005_07_31:155415000] +synonym: "Atherosclerosis of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:81817003] +xref: ICD10CM:I70.0 +xref: ICD9CM:440.0 +xref: SNOMEDCT_US_2015_03_01:155415000 +xref: SNOMEDCT_US_2015_03_01:195252007 +xref: SNOMEDCT_US_2015_03_01:81817003 +xref: UMLS_CUI:C0155733 +is_a: DOID:1936 ! atherosclerosis + +[Term] +id: DOID:10233 +name: Histoplasma capsulatum pericarditis +def: "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16924162] +synonym: "Histoplasma capsulatum with pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187040006] +is_obsolete: true + +[Term] +id: DOID:10234 +name: histoplasmosis pericarditis +synonym: "Histoplasmosis with pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187059008] +xref: ICD9CM:115.93 +xref: SNOMEDCT_US_2015_03_01:187059008 +xref: UMLS_CUI:C0153279 +is_a: DOID:1787 ! pericarditis + +[Term] +id: DOID:10235 +name: Brown's tendon sheath syndrome +synonym: "Brown tendon sheath syndrome" EXACT [] +synonym: "Brown's (tendon) sheath syndrome" EXACT [ICD9CM_2006:378.61] +synonym: "Brown's sheath syndrome" EXACT [MTHICD9_2006:378.61] +synonym: "Brown's tendon sheath syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:35929003] +xref: ICD10CM:H50.61 +xref: ICD9CM:378.61 +xref: MSH:D015835 +xref: SNOMEDCT_US_2015_03_01:35929003 +xref: UMLS_CUI:C0155339 +is_a: DOID:9306 ! mechanical strabismus + +[Term] +id: DOID:10236 +name: exhibitionism +xref: ICD10CM:F65.2 +xref: ICD9CM:302.4 +xref: MSH:D005084 +xref: NCI:C94352 +xref: SNOMEDCT_US_2015_03_01:154907002 +xref: SNOMEDCT_US_2015_03_01:191781000 +xref: SNOMEDCT_US_2015_03_01:192514003 +xref: SNOMEDCT_US_2015_03_01:268763002 +xref: SNOMEDCT_US_2015_03_01:58349009 +xref: UMLS_CUI:C0015269 +is_a: DOID:0060044 ! paraphilia disorder + +[Term] +id: DOID:10237 +name: pelvic cancer +def: "A malignant neoplasm that is manifested in the pelvic region." [url:http\://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm] +synonym: "neoplasm of pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:126644004] +synonym: "pelvis neoplasm" EXACT [CSP2005:2005-4862] +is_obsolete: true + +[Term] +id: DOID:10238 +name: malignant neoplasm of rectum, rectosigmoid junction and anus +synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)" EXACT [SNOMEDCT_2005_07_31:187760008] +synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187766002] +synonym: "malignant neoplasm of rectum, rectosigmoid junction, and anus" EXACT [ICD9CM_2006:154] +is_obsolete: true + +[Term] +id: DOID:10239 +name: malignant neoplasm of pelvic bones, sacrum and coccyx +synonym: "Ca pelvic bones/sacrum/coccyx" EXACT [SNOMEDCT_2005_07_31:154498005] +synonym: "Ca pelvic bones/sacrum/coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:269573006] +synonym: "malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:187952001] +synonym: "malignant neoplasm of pelvic bones, sacrum, and coccyx" EXACT [ICD9CM_2006:170.6] +synonym: "malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187958002] +is_obsolete: true + +[Term] +id: DOID:1024 +name: leprosy +def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Leprosy] +comment: Xref MGI. +subset: DO_MGI_slim +subset: gram-positive_bacterial_infectious_disease +xref: EFO:0001054 +xref: ICD10CM:A30 +xref: ICD10CM:A30.9 +xref: ICD9CM:030 +xref: ICD9CM:030.9 +xref: MSH:D007918 +xref: NCI:C84824 +xref: OMIM:246300 +xref: OMIM:607572 +xref: OMIM:609888 +xref: OMIM:610988 +xref: OMIM:613223 +xref: OMIM:613407 +xref: ORDO:548 +xref: SNOMEDCT_US_2015_03_01:154298007 +xref: SNOMEDCT_US_2015_03_01:186339006 +xref: SNOMEDCT_US_2015_03_01:187316006 +xref: SNOMEDCT_US_2015_03_01:266184007 +xref: SNOMEDCT_US_2015_03_01:81004002 +xref: UMLS_CUI:C0023343 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:10240 +name: malignant neoplasm of pelvis +synonym: "malignant neoplasm of pelvis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188370005] +synonym: "malignant neoplasm of pelvis, NOS" EXACT [SNOMEDCT_2005_07_31:93953009] +synonym: "malignant tumor of pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:363484005] +is_obsolete: true + +[Term] +id: DOID:10241 +name: thalassemia +alt_id: DOID:12242 +alt_id: DOID:12243 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Sickle-cell thalassemia with crisis" EXACT [ICD9CM_2006:282.42] +synonym: "Sickle-cell thalassemia without crisis" EXACT [ICD9CM_2006:282.41] +synonym: "thalassemia Hb-S disease with crisis" EXACT [] +synonym: "thalassemia Hb-S disease without crisis" EXACT [] +xref: ICD10CM:D56 +xref: ICD10CM:D56.9 +xref: ICD9CM:282.4 +xref: ICD9CM:282.40 +xref: MSH:D013789 +xref: NCI:C35069 +xref: OMIM:604131 +xref: SNOMEDCT_US_2015_03_01:154796005 +xref: SNOMEDCT_US_2015_03_01:191182000 +xref: SNOMEDCT_US_2015_03_01:191192008 +xref: SNOMEDCT_US_2015_03_01:191193003 +xref: SNOMEDCT_US_2015_03_01:267521001 +xref: SNOMEDCT_US_2015_03_01:267557006 +xref: SNOMEDCT_US_2015_03_01:40108008 +xref: SNOMEDCT_US_2015_03_01:84188003 +xref: UMLS_CUI:C0039730 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:10242 +name: ehrlichiosis +alt_id: DOID:0050023 +def: "A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash." [url:http\://emedicine.medscape.com/article/235839-overview, url:http\://en.wikipedia.org/wiki/Ehrlichiosis] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "human ehrlichiosis" EXACT [] +xref: ICD10CM:A77.4 +xref: ICD10CM:A77.40 +xref: ICD9CM:082.4 +xref: ICD9CM:082.40 +xref: MSH:D016873 +xref: SNOMEDCT_US_2015_03_01:77361002 +xref: UMLS_CUI:C0085399 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:10245 +name: delayed separation of umbilical cord +is_obsolete: true + +[Term] +id: DOID:10247 +name: pleurisy +def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs." [url:http\://en.wikipedia.org/wiki/Pleurisy, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2] +xref: ICD9CM:511.8 +xref: UMLS_CUI:C0029799 +is_a: DOID:1532 ! pleural disease + +[Term] +id: DOID:1025 +name: tuberculoid leprosy +def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217, url:http\://en.wikipedia.org/wiki/Tuberculoid_leprosy] +subset: gram-positive_bacterial_infectious_disease +synonym: "Smooth leprosy" EXACT [SNOMEDCT_2005_07_31:70143003] +synonym: "Tuberculoid leprosy [type T]" EXACT [ICD9CM_2006:030.1] +synonym: "type T leprosy" EXACT [MTHICD9_2006:030.1] +xref: ICD10CM:A30.1 +xref: ICD9CM:030.1 +xref: MSH:D015441 +xref: SNOMEDCT_US_2015_03_01:70143003 +xref: UMLS_CUI:C0023351 +is_a: DOID:1024 ! leprosy + +[Term] +id: DOID:10250 +name: louping ill +def: "A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs." [url:http\://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/15606630] +subset: tick-borne_infectious_disease +synonym: "Louping ill" EXACT [ICD9CM_2006:063.1] +xref: ICD10CM:A84.8 +xref: ICD9CM:063.1 +xref: MSH:D008146 +xref: SNOMEDCT_US_2015_03_01:59350003 +xref: UMLS_CUI:C0024025 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10254 +name: strawberry gallbladder +synonym: "Cholesterolosis of gallbladder" EXACT [ICD9CM_2006:575.6] +synonym: "Cholesterolosis of gallbladder (disorder)" EXACT [SNOMEDCT_2005_07_31:61565001] +xref: ICD10CM:K82.4 +xref: ICD9CM:575.6 +xref: SNOMEDCT_US_2015_03_01:61565001 +xref: UMLS_CUI:C0152456 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:10255 +name: conjunctival degenerations and deposits +synonym: "Conjunctival degenerations and deposits (disorder)" EXACT [SNOMEDCT_2005_07_31:193885005] +is_obsolete: true + +[Term] +id: DOID:10256 +name: vitamin A deficiency with conjunctival xerosis +synonym: "vitamin A deficiency with conjunctival xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:27796003] +is_obsolete: true + +[Term] +id: DOID:10257 +name: vitamin A deficiency +is_obsolete: true + +[Term] +id: DOID:10261 +name: discharging ear +xref: ICD10CM:H92.1 +xref: ICD10CM:H92.10 +xref: ICD9CM:388.6 +xref: ICD9CM:388.60 +xref: NCI:C35199 +xref: SNOMEDCT_US_2015_03_01:139633004 +xref: SNOMEDCT_US_2015_03_01:155250006 +xref: SNOMEDCT_US_2015_03_01:162364004 +xref: SNOMEDCT_US_2015_03_01:194403000 +xref: SNOMEDCT_US_2015_03_01:194405007 +xref: SNOMEDCT_US_2015_03_01:267676003 +xref: SNOMEDCT_US_2015_03_01:300132001 +xref: SNOMEDCT_US_2015_03_01:65668001 +xref: UMLS_CUI:C0155540 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:10263 +name: Mumps virus hepatitis +def: "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine." [url:url\:http\://www.ncbi.nlm.nih.gov/pubmed/13361586] +synonym: "Mumps hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:89231008] +is_obsolete: true + +[Term] +id: DOID:10264 +name: mumps +def: "A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face." [url:http\://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf] +xref: ICD10CM:B26 +xref: ICD10CM:B26.9 +xref: ICD9CM:072 +xref: MSH:D009107 +xref: NCI:C29888 +xref: SNOMEDCT_US_2015_03_01:154352008 +xref: SNOMEDCT_US_2015_03_01:186651001 +xref: SNOMEDCT_US_2015_03_01:186652008 +xref: SNOMEDCT_US_2015_03_01:240526004 +xref: SNOMEDCT_US_2015_03_01:36989005 +xref: UMLS_CUI:C0026780 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10265 +name: hairy cell leukemia of spleen +synonym: "Hairy cell leukemia of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93151007] +synonym: "Leukemic reticuloendotheliosis involving spleen" EXACT [ICD9CM_2006:202.47] +synonym: "Leukemic reticuloendotheliosis of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188651007] +xref: ICD9CM:202.47 +xref: SNOMEDCT_US_2015_03_01:188651007 +xref: SNOMEDCT_US_2015_03_01:93151007 +xref: UMLS_CUI:C0153832 +is_a: DOID:285 ! hairy cell leukemia + +[Term] +id: DOID:10266 +name: subendocardial infarction acute myocardial infarction +xref: ICD9CM:410.7 +xref: UMLS_CUI:C0155655 +is_a: DOID:9408 ! acute myocardial infarction + +[Term] +id: DOID:10272 +name: left bundle branch hemiblock +synonym: "Left bundle branch [block] or [hemiblock]" EXACT [SNOMEDCT_2005_07_31:195044001] +synonym: "Left bundle branch hemiblock (disorder)" EXACT [SNOMEDCT_2005_07_31:4973001] +synonym: "Left bundle branch hemiblock NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195045000] +xref: ICD10CM:I44.60 +xref: ICD9CM:426.2 +xref: SNOMEDCT_US_2015_03_01:195044001 +xref: SNOMEDCT_US_2015_03_01:195045000 +xref: SNOMEDCT_US_2015_03_01:266245009 +xref: SNOMEDCT_US_2015_03_01:4973001 +xref: UMLS_CUI:C0155702 +is_a: DOID:10273 ! heart conduction disease + +[Term] +id: DOID:10273 +name: heart conduction disease +def: "A cardiovascular system disease that involves the heart's electrical conduction system." [url:http\://en.wikipedia.org/wiki/Conduction_system_of_the_heart] +synonym: "heart rhythm disease" EXACT [] +xref: ICD9CM:426.6 +xref: SNOMEDCT_US_2015_03_01:195053008 +xref: SNOMEDCT_US_2015_03_01:195056000 +xref: UMLS_CUI:C0029630 +is_a: DOID:1287 ! cardiovascular system disease + +[Term] +id: DOID:10274 +name: schizo-affective type schizophrenia in remission +is_obsolete: true + +[Term] +id: DOID:10277 +name: Pseudomonas intestinal infectious disease +def: "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess." [url:http\://emedicine.medscape.com/article/970904-overview] +subset: gram-negative_bacterial_infectious_disease +synonym: "intestinal infection due to Pseudomonas (disorder)" EXACT [SNOMEDCT_2005_07_31:82930004] +synonym: "intestinal infectious disease due to pseudomonas" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10278 +name: Vasa previa complicating labor and delivery +synonym: "Vasa previa complicating labor and delivery, unspecified as to episode of care" EXACT [ICD9CM_2006:663.50] +is_obsolete: true + +[Term] +id: DOID:10279 +name: Vasa previa +synonym: "Vasa praevia" EXACT [SNOMEDCT_2005_07_31:199893002] +synonym: "Vasa previa (disorder)" EXACT [SNOMEDCT_2005_07_31:79668009] +synonym: "Vasa previa complicating labor and delivery, antepartum" EXACT [ICD9CM_2006:663.53] +synonym: "Vasa previa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:199897001] +synonym: "Vasa previa unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:199894008] +is_obsolete: true + +[Term] +id: DOID:10280 +name: Vasa previa complicating labor and delivery, delivered +is_obsolete: true + +[Term] +id: DOID:10283 +name: prostate cancer +alt_id: DOID:514 +def: "A male reproductive organ cancer that is located_in the prostate." [url:http\://www.cancer.gov/dictionary?CdrID=445079] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "hereditary prostate cancer" EXACT [] +synonym: "malignant tumor of the prostate" EXACT [NCI2004_11_17:C7378] +synonym: "NGP - new growth of prostate" EXACT [SNOMEDCT_2005_07_31:363448003] +synonym: "prostate cancer, familial" EXACT [MSH:C537243] +synonym: "prostate neoplasm" EXACT [CSP2005:2016-2641] +synonym: "prostatic cancer" EXACT [CSP2005:2016-2641] +synonym: "prostatic neoplasm" EXACT [] +synonym: "tumor of the prostate" EXACT [NCI2004_11_17:C3343] +xref: ICD10CM:C61 +xref: ICD9CM:185 +xref: KEGG:05215 +xref: MSH:D011471 +xref: NCI:C3343 +xref: NCI:C7378 +xref: OMIM:176807 +xref: OMIM:300147 +xref: OMIM:300704 +xref: OMIM:601518 +xref: OMIM:602759 +xref: OMIM:608656 +xref: OMIM:608658 +xref: OMIM:609299 +xref: OMIM:609558 +xref: OMIM:610321 +xref: OMIM:610997 +xref: OMIM:611100 +xref: OMIM:611868 +xref: OMIM:611928 +xref: OMIM:611955 +xref: OMIM:611958 +xref: OMIM:611959 +xref: OMIM:614761 +xref: ORDO:1331 +xref: SNOMEDCT_US_2015_03_01:126906006 +xref: SNOMEDCT_US_2015_03_01:363448003 +xref: SNOMEDCT_US_2015_03_01:399068003 +xref: SNOMEDCT_US_2015_03_01:93974005 +xref: UMLS_CUI:C0033578 +xref: UMLS_CUI:C0376358 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:10286 +name: prostate carcinoma +def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "cancer of prostate" EXACT [SNOMEDCT_2005_07_31:363448003] +synonym: "cancer of prostate" EXACT [NCI2004_11_17:C4863] +synonym: "carcinoma OF PROSTATE" EXACT [MTH:612] +synonym: "carcinoma of prostate" EXACT [SNOMEDCT_2005_07_31:154531004] +synonym: "carcinoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:254900004] +xref: EFO:0001663 +xref: KEGG:05215 +xref: NCI:C4863 +xref: SNOMEDCT_US_2015_03_01:154531004 +xref: SNOMEDCT_US_2015_03_01:254900004 +xref: SNOMEDCT_US_2015_03_01:363448003 +xref: UMLS_CUI:C0600139 +is_a: DOID:10283 ! prostate cancer + +[Term] +id: DOID:10287 +name: prostate squamous cell carcinoma +synonym: "squamous cell carcinoma of prostate" RELATED [] +synonym: "squamous cell carcinoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:399590005] +synonym: "squamous cell carcinoma of the prostate" EXACT [NCI2004_11_17:C5536] +xref: NCI:C5536 +xref: SNOMEDCT_US_2015_03_01:399590005 +xref: UMLS_CUI:C1302530 +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:10288 +name: metastasis to prostate +synonym: "metastatic neoplasm to the prostate" EXACT [NCI2004_11_17:C7080] +synonym: "secondary malignant neoplasm of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:94503003] +is_obsolete: true + +[Term] +id: DOID:10289 +name: prostate malignant phyllodes tumor +synonym: "malignant Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C5531] +xref: MSH:C549759 +xref: NCI:C5531 +xref: UMLS_CUI:C1334615 +is_a: DOID:10283 ! prostate cancer + +[Term] +id: DOID:1029 +name: familial periodic paralysis +xref: ICD10CM:G72.3 +xref: MSH:D010245 +xref: NCI:C84709 +xref: SNOMEDCT_US_2015_03_01:155099000 +xref: SNOMEDCT_US_2015_03_01:193241004 +xref: SNOMEDCT_US_2015_03_01:267607008 +xref: SNOMEDCT_US_2015_03_01:267714003 +xref: SNOMEDCT_US_2015_03_01:54696002 +xref: UMLS_CUI:C0030443 +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:10290 +name: prostate lymphoma +synonym: "lymphoma of prostate" EXACT [] +synonym: "Lymphoma of the prostate" EXACT [NCI2004_11_17:C5533] +xref: NCI:C5533 +xref: UMLS_CUI:C1335512 +is_a: DOID:10283 ! prostate cancer + +[Term] +id: DOID:10293 +name: monocular esotropia +xref: ICD10CM:H50.01 +xref: ICD9CM:378.01 +xref: MSH:D004948 +xref: SNOMEDCT_US_2015_03_01:194075001 +xref: SNOMEDCT_US_2015_03_01:5455000 +xref: UMLS_CUI:C0152204 +is_a: DOID:9840 ! esotropia + +[Term] +id: DOID:10294 +name: intermittent monocular esotropia +synonym: "Intermittent esotropia, monocular" EXACT [ICD9CM_2006:378.21] +synonym: "Intermittent monocular esotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194101008] +synonym: "Monocular intermittent esotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:31447006] +is_obsolete: true + +[Term] +id: DOID:10295 +name: monocular esotropia with A pattern +synonym: "Monocular esotropia with A pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:58409000] +is_obsolete: true + +[Term] +id: DOID:10296 +name: monocular esotropia with V pattern +synonym: "Monocular esotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:65215002] +is_obsolete: true + +[Term] +id: DOID:10300 +name: Raynaud disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Raynaud's disease" EXACT [MTH:639] +synonym: "Raynaud's disease" EXACT [NCI2004_11_17:C34972] +synonym: "Raynaud's disease" EXACT [CSP2005:0571-7333] +synonym: "Raynaud's disease" EXACT [MTHICD9_2006:443.0] +synonym: "Raynaud's disease" EXACT [SNOMEDCT_2005_07_31:123266007] +synonym: "Raynaud's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:195295006] +synonym: "Raynaud's syndrome" EXACT [SNOMEDCT_2005_07_31:155429004] +synonym: "Raynaud's syndrome" EXACT [SNOMEDCT_2005_07_31:266319002] +synonym: "Raynaud's syndrome" EXACT [ICD9CM_2006:443.0] +synonym: "Raynaud's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:195294005] +synonym: "Raynaud's syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:22954002] +synonym: "Raynaud's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195297003] +xref: ICD10CM:I73.0 +xref: MSH:D011928 +xref: NCI:C34972 +xref: OMIM:179600 +xref: SNOMEDCT_US_2015_03_01:123266007 +xref: SNOMEDCT_US_2015_03_01:195295006 +xref: SNOMEDCT_US_2015_03_01:22954002 +xref: UMLS_CUI:C0034734 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:10301 +name: parotitis +def: "A parotid disease characterized by the inflammation of one or both parotid glands." [url:http\://en.wikipedia.org/wiki/Parotitis] +xref: ICD10CM:K11.2 +xref: MSH:D010309 +xref: NCI:C114281 +xref: SNOMEDCT_US_2015_03_01:14756005 +xref: SNOMEDCT_US_2015_03_01:196481002 +xref: SNOMEDCT_US_2015_03_01:196484005 +xref: UMLS_CUI:C0030583 +is_a: DOID:10302 ! parotid disease + +[Term] +id: DOID:10302 +name: parotid disease +xref: MSH:D010305 +xref: UMLS_CUI:C0030579 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:10303 +name: sialadenitis +synonym: "Sialoadenitis" EXACT [SNOMEDCT_2005_07_31:266494007] +xref: ICD10CM:K11.2 +xref: ICD10CM:K11.20 +xref: ICD9CM:527.2 +xref: MSH:D012793 +xref: NCI:C26882 +xref: SNOMEDCT_US_2015_03_01:155655005 +xref: SNOMEDCT_US_2015_03_01:196481002 +xref: SNOMEDCT_US_2015_03_01:196490009 +xref: SNOMEDCT_US_2015_03_01:266494007 +xref: SNOMEDCT_US_2015_03_01:42982001 +xref: UMLS_CUI:C0037023 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:10304 +name: Mumps virus infectious disease +def: "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." [url:http\://www.expasy.org/viralzone/all_by_species/88.html] +synonym: "Rubulavirus infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10305 +name: Mumps virus orchitis +def: "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001280.htm] +synonym: "Mumps orchitis (disorder)" EXACT [SNOMEDCT_2005_07_31:78580004] +is_obsolete: true + +[Term] +id: DOID:10307 +name: Mumps virus polyneuritis +def: "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness." [url:http\://www.merckmanuals.com/home/sec06/ch095/ch095h.html, url:http\://www.merckmanuals.com/professional/sec14/ch193/ch193d.html] +synonym: "Mumps polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:31524007] +synonym: "Polyneuropathy in mumps (disorder)" EXACT [SNOMEDCT_2005_07_31:193192002] +is_obsolete: true + +[Term] +id: DOID:10309 +name: Mumps virus meningitis +def: "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness." [url:http\://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784] +synonym: "Mumps meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44201003] +is_obsolete: true + +[Term] +id: DOID:10310 +name: viral meningitis +xref: ICD10CM:A87 +xref: ICD10CM:A87.9 +xref: ICD9CM:047.9 +xref: MSH:D008587 +xref: SNOMEDCT_US_2015_03_01:154321007 +xref: SNOMEDCT_US_2015_03_01:154984006 +xref: SNOMEDCT_US_2015_03_01:154985007 +xref: SNOMEDCT_US_2015_03_01:186490006 +xref: SNOMEDCT_US_2015_03_01:187403007 +xref: SNOMEDCT_US_2015_03_01:192672003 +xref: SNOMEDCT_US_2015_03_01:266097006 +xref: SNOMEDCT_US_2015_03_01:266190006 +xref: SNOMEDCT_US_2015_03_01:267575007 +xref: SNOMEDCT_US_2015_03_01:267680008 +xref: SNOMEDCT_US_2015_03_01:58170007 +xref: UMLS_CUI:C0025297 +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:10311 +name: Mumps virus encephalitis +def: "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5046780] +synonym: "Mumps encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:31646008] +is_obsolete: true + +[Term] +id: DOID:10312 +name: Mumps virus pancreatitis +def: "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting." [url:http\://emedicine.medscape.com/article/966678-overview] +synonym: "Mumps pancreatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:10665004] +is_obsolete: true + +[Term] +id: DOID:10314 +name: endocarditis +alt_id: DOID:14058 +def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves." [url:http\://wn.wikipedia.org/wiki/Endocarditis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/endo/] +xref: ICD10CM:I33.9 +xref: ICD9CM:421.9 +xref: MSH:D004696 +xref: NCI:C34582 +xref: NCI:C35432 +xref: SNOMEDCT_US_2015_03_01:194935007 +xref: SNOMEDCT_US_2015_03_01:56819008 +xref: SNOMEDCT_US_2015_03_01:91357005 +xref: UMLS_CUI:C0014118 +xref: UMLS_CUI:C0375268 +is_a: DOID:0050825 ! endocardium disease + +[Term] +id: DOID:10316 +name: pneumoconiosis +def: "An interstitial lung disease that is caused by the inhalation of dust." [url:http\://en.wikipedia.org/wiki/Pneumoconiosis] +xref: ICD10CM:J64 +xref: ICD9CM:505 +xref: MSH:D011009 +xref: NCI:C26861 +xref: SNOMEDCT_US_2015_03_01:155587002 +xref: SNOMEDCT_US_2015_03_01:155591007 +xref: SNOMEDCT_US_2015_03_01:196004000 +xref: SNOMEDCT_US_2015_03_01:196016006 +xref: SNOMEDCT_US_2015_03_01:266401007 +xref: SNOMEDCT_US_2015_03_01:40122008 +xref: UMLS_CUI:C0032273 +is_a: DOID:3082 ! interstitial lung disease + +[Term] +id: DOID:10319 +name: mixed mineral dust pneumoconiosis +synonym: "mixed mineral dust pneumoconiosis (disorder)" EXACT [SNOMEDCT_2005_07_31:233759002] +xref: NCI:C27559 +xref: SNOMEDCT_US_2015_03_01:233759002 +xref: UMLS_CUI:C0340184 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10320 +name: asbestosis +def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers." [url:http\://en.wikipedia.org/wiki/Asbestosis] +synonym: "Asbestosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196006003] +xref: CSP:2596-4484 +xref: ICD10CM:J61 +xref: ICD9CM:501 +xref: MSH:D001195 +xref: NCI:C84573 +xref: SNOMEDCT_US_2015_03_01:155589004 +xref: SNOMEDCT_US_2015_03_01:196006003 +xref: SNOMEDCT_US_2015_03_01:22607003 +xref: SNOMEDCT_US_2015_03_01:266400008 +xref: UMLS_CUI:C0003949 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10321 +name: baritosis +synonym: "Baritosis (disorder)" EXACT [SNOMEDCT_2005_07_31:50076003] +xref: MSH:C537080 +xref: NCI:C34410 +xref: SNOMEDCT_US_2015_03_01:50076003 +xref: UMLS_CUI:C0340177 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10322 +name: berylliosis +def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Berylliosis] +synonym: "Berylliosis (disorder)" EXACT [SNOMEDCT_2005_07_31:8247009] +synonym: "beryllium poisoning" EXACT [CSP2005:1858-2321] +xref: ICD10CM:J63.2 +xref: MSH:D001607 +xref: SNOMEDCT_US_2015_03_01:8247009 +xref: UMLS_CUI:C0005138 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10323 +name: byssinosis +synonym: "Byssinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:85761009] +synonym: "cotton mill fever" EXACT [CSP2005:2596-2097] +synonym: "Flax-dressers' disease" EXACT [MTHICD9_2006:504] +synonym: "Flax-dressers' disease" EXACT [SNOMEDCT_2005_07_31:196014009] +synonym: "Stripper's asthma" EXACT [SNOMEDCT_2005_07_31:13151001] +xref: ICD10CM:J66.0 +xref: MSH:D002095 +xref: NCI:C84605 +xref: SNOMEDCT_US_2015_03_01:155589004 +xref: SNOMEDCT_US_2015_03_01:233689004 +xref: SNOMEDCT_US_2015_03_01:266400008 +xref: SNOMEDCT_US_2015_03_01:85761009 +xref: UMLS_CUI:C0006542 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10324 +name: anthracosilicosis +xref: CSP:2596-4484 +xref: ICD10CM:J60 +xref: MSH:D000874 +xref: NCI:C34389 +xref: SNOMEDCT_US_2015_03_01:33548005 +xref: UMLS_CUI:C0003164 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10325 +name: silicosis +alt_id: DOID:14007 +def: "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Silicosis] +synonym: "Pneumoconiosis due to other silica or silicates" EXACT [ICD9CM_2006:502] +synonym: "Pneumoconiosis due to silica (disorder)" EXACT [SNOMEDCT_2005_07_31:805002] +synonym: "Pneumoconiosis due to silicates (disorder)" EXACT [SNOMEDCT_2005_07_31:83316006] +synonym: "Silica pneumoconiosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196010000] +synonym: "Silicotic fibrosis of lung" EXACT [MTHICD9_2006:502] +synonym: "silicotuberculosis" EXACT [] +xref: ICD10CM:J62 +xref: ICD10CM:J62.8 +xref: ICD9CM:502 +xref: MSH:D012829 +xref: NCI:C3369 +xref: SNOMEDCT_US_2015_03_01:155590008 +xref: SNOMEDCT_US_2015_03_01:196010000 +xref: SNOMEDCT_US_2015_03_01:805002 +xref: UMLS_CUI:C0037116 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10326 +name: Caplan's syndrome +def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis." [url:http\://en.wikipedia.org/wiki/Caplan%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000137.htm] +synonym: "Caplan syndrome" EXACT [] +synonym: "Caplan's disease" EXACT [] +synonym: "Caplans syndrome" EXACT [SNOMEDCT_2005_07_31:201813004] +synonym: "Rheumatoid pneumoconiosis" EXACT [SNOMEDCT_2005_07_31:111280008] +xref: MSH:D002205 +xref: SNOMEDCT_US_2015_03_01:111280008 +xref: SNOMEDCT_US_2015_03_01:201813004 +xref: SNOMEDCT_US_2015_03_01:398640008 +xref: UMLS_CUI:C0006915 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10327 +name: anthracosis +synonym: "black lung" EXACT [CSP2005:2596-4484] +synonym: "Coal Miner's Pneumoconiosis" EXACT [NCI2004_11_17:C34390] +synonym: "Coal workers' lung" EXACT [MTHICD9_2006:500] +synonym: "Coal workers' pneumoconiosis" EXACT [ICD9CM_2006:500] +synonym: "Coal workers' pneumoconiosis" EXACT [SNOMEDCT_2005_07_31:155588007] +synonym: "Melanoedema" EXACT [SNOMEDCT_2005_07_31:29422001] +xref: ICD10CM:J60 +xref: ICD9CM:500 +xref: MSH:D055008 +xref: NCI:C34390 +xref: SNOMEDCT_US_2015_03_01:155588007 +xref: SNOMEDCT_US_2015_03_01:29422001 +xref: UMLS_CUI:C0003165 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10328 +name: siderosis +synonym: "pulmonary siderosis (disorder)" EXACT [SNOMEDCT_2005_07_31:62371005] +xref: ICD10CM:J63.4 +xref: MSH:D012806 +xref: SNOMEDCT_US_2015_03_01:155591007 +xref: SNOMEDCT_US_2015_03_01:266401007 +xref: SNOMEDCT_US_2015_03_01:62371005 +xref: UMLS_CUI:C0037061 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10329 +name: pneumoconiosis due to talc +synonym: "Pneumoconiosis due to talc (disorder)" EXACT [SNOMEDCT_2005_07_31:73144008] +synonym: "Talc Pneumoconiosis" EXACT [NCI2004_11_17:C27026] +xref: ICD10CM:J62.0 +xref: NCI:C27026 +xref: SNOMEDCT_US_2015_03_01:73144008 +xref: UMLS_CUI:C0238377 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10330 +name: slate pneumoconiosis +synonym: "Schistosis (disorder)" EXACT [SNOMEDCT_2005_07_31:1259003] +xref: NCI:C35397 +xref: SNOMEDCT_US_2015_03_01:1259003 +xref: UMLS_CUI:C0340186 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10331 +name: kaolin pneumoconiosis +synonym: "Kaolinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:36696005] +xref: NCI:C35315 +xref: SNOMEDCT_US_2015_03_01:36696005 +xref: UMLS_CUI:C0264435 +is_a: DOID:10316 ! pneumoconiosis + +[Term] +id: DOID:10332 +name: disorder of optic chiasm due to vascular disorder +synonym: "disorder of optic chiasm associated with vascular disorder" EXACT [ICD9CM_2006:377.53] +is_obsolete: true + +[Term] +id: DOID:10334 +name: craniofacial abnormality +alt_id: DOID:1295 +synonym: "Congenital abnormality of skull and face bones (disorder)" EXACT [SNOMEDCT_2005_07_31:268239009] +synonym: "Congenital anomalies of skull and face bones" EXACT [ICD9CM_2006:756.0] +synonym: "Skull and face &/or face bone anomalies" EXACT [SNOMEDCT_2005_07_31:205409008] +synonym: "Skull or face bone anomaly NOS" EXACT [SNOMEDCT_2005_07_31:205423005] +synonym: "Skull or face bone anomaly NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268269002] +is_obsolete: true + +[Term] +id: DOID:10337 +name: glaucomatous atrophy of optic disc +synonym: "Glaucomatous atrophy [cupping] of optic disc" EXACT [ICD9CM_2006:377.14] +synonym: "Glaucomatous atrophy of optic disc (disorder)" EXACT [SNOMEDCT_2005_07_31:1207009] +synonym: "Glaucomatous cupping of optic disc" EXACT [MTHICD9_2006:377.14] +xref: ICD10CM:H47.23 +xref: ICD9CM:377.14 +xref: SNOMEDCT_US_2015_03_01:1207009 +xref: UMLS_CUI:C0271342 +is_a: DOID:1686 ! glaucoma +is_a: DOID:5723 ! optic atrophy + +[Term] +id: DOID:10338 +name: subchronic schizophrenia +synonym: "subchronic Schizophrenia" EXACT [NCI2004_11_17:C35185] +synonym: "subchronic schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:16990005] +synonym: "Unspecified schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.91] +is_obsolete: true + +[Term] +id: DOID:10339 +name: schizophrenia simplex +synonym: "simple schizophrenia" EXACT [SNOMEDCT_2005_07_31:192325006] +synonym: "simple schizophrenia" EXACT [SNOMEDCT_2005_07_31:154866008] +synonym: "simple schizophrenia" EXACT [CSP2005:2485-0932] +synonym: "simple schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191527001] +synonym: "simple schizophrenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191534004] +synonym: "simple type Schizophrenia" EXACT [NCI2004_11_17:C35269] +synonym: "simple type schizophrenia" EXACT [ICD9CM_2006:295.0] +synonym: "simple type schizophrenia, unspecified state" EXACT [ICD9CM_2006:295.00] +is_obsolete: true + +[Term] +id: DOID:10340 +name: residual subchronic schizophrenia +synonym: "Residual schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.61] +synonym: "subchronic residual schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:76566000] +is_obsolete: true + +[Term] +id: DOID:10341 +name: chronic meningitis +synonym: "chronic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:21664006] +xref: ICD10CM:G03.1 +xref: ICD9CM:322.2 +xref: SNOMEDCT_US_2015_03_01:21664006 +xref: UMLS_CUI:C0154653 +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:10342 +name: subchronic latent schizophrenia +synonym: "Latent schizophrenia, subchronic state" EXACT [ICD9CM_2006:295.51] +synonym: "Latent subchronic Schizophrenia" EXACT [NCI2004_11_17:C35181] +synonym: "subchronic latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191561004] +is_obsolete: true + +[Term] +id: DOID:10343 +name: latent schizophrenia +synonym: "Latent Schizophrenia" EXACT [NCI2004_11_17:C34759] +synonym: "Latent schizophrenia" EXACT [SNOMEDCT_2005_07_31:192328008] +synonym: "Latent schizophrenia" EXACT [ICD9CM_2006:295.5] +synonym: "Latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191559008] +synonym: "Latent schizophrenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191566009] +synonym: "Latent schizophrenia, unspecified state" EXACT [ICD9CM_2006:295.50] +synonym: "Latent schizophrenic reaction" EXACT [MTHICD9_2006:295.5] +synonym: "Unspecified latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191560003] +is_obsolete: true + +[Term] +id: DOID:10348 +name: blepharophimosis +xref: ICD10CM:H02.52 +xref: ICD9CM:374.46 +xref: MSH:D016569 +xref: UMLS_CUI:C0005744 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:10349 +name: solitary cyst of breast +synonym: "Solitary cyst of breast" EXACT [ICD9CM_2006:610.0] +synonym: "Solitary cyst of breast" EXACT [SNOMEDCT_2005_07_31:270538000] +synonym: "Solitary cyst of breast" EXACT [SNOMEDCT_2005_07_31:198090005] +synonym: "Solitary cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:266578003] +synonym: "Solitary Cyst of the breast" EXACT [NCI2004_11_17:C3378] +xref: ICD10CM:N60.0 +xref: ICD10CM:N60.09 +xref: ICD9CM:610.0 +xref: NCI:C3378 +xref: SNOMEDCT_US_2015_03_01:198090005 +xref: SNOMEDCT_US_2015_03_01:266578003 +xref: SNOMEDCT_US_2015_03_01:270538000 +xref: UMLS_CUI:C0037619 +is_a: DOID:10350 ! breast cyst + +[Term] +id: DOID:1035 +name: natural killer cell leukemia +synonym: "Aggressive NK-cell leukemia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128833001] +synonym: "large granular Lymphocyte Leukemia, NK-cell type" EXACT [NCI2004_11_17:C8647] +xref: ICD10CM:C94.8 +xref: NCI:C8647 +xref: SNOMEDCT_US_2015_03_01:128833001 +xref: UMLS_CUI:C1292777 +is_a: DOID:1037 ! lymphoblastic leukemia + +[Term] +id: DOID:10350 +name: breast cyst +synonym: "Cyst of breast" EXACT [SNOMEDCT_2005_07_31:270538000] +synonym: "Cyst of breast" EXACT [MTHICD9_2006:610.0] +synonym: "Cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:399294002] +synonym: "Cyst of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:56726003] +synonym: "Cyst of the breast" EXACT [NCI2004_11_17:C5315] +xref: ICD10CM:N60.0 +xref: MSH:D047688 +xref: NCI:C5315 +xref: SNOMEDCT_US_2015_03_01:270538000 +xref: SNOMEDCT_US_2015_03_01:399294002 +xref: SNOMEDCT_US_2015_03_01:56726003 +xref: UMLS_CUI:C0006144 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:10351 +name: mammary duct ectasia +synonym: "Comedomastitis" EXACT [NCI2004_11_17:C3522] +synonym: "Comedomastitis" EXACT [MTHICD9_2006:610.4] +synonym: "Mammary duct ectasia (disorder)" EXACT [SNOMEDCT_2005_07_31:22049009] +synonym: "Mammary duct ectasia [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:198093007] +is_obsolete: true + +[Term] +id: DOID:10352 +name: breast fibroadenosis +synonym: "Fibroadenosis - breast" EXACT [SNOMEDCT_2005_07_31:270893004] +synonym: "Fibroadenosis of breast" EXACT [ICD9CM_2006:610.2] +synonym: "Fibroadenosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:23260002] +synonym: "Fibroadenosis of breast NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198092002] +xref: ICD10CM:N60.2 +xref: ICD9CM:610.2 +xref: SNOMEDCT_US_2015_03_01:198092002 +xref: SNOMEDCT_US_2015_03_01:23260002 +xref: SNOMEDCT_US_2015_03_01:270893004 +xref: UMLS_CUI:C1305875 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:10353 +name: fibrosclerosis of breast +synonym: "Fibrosclerosis of breast" EXACT [ICD9CM_2006:610.3] +synonym: "Fibrosclerosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:29070004] +synonym: "Fibrosis of the breast" EXACT [NCI2004_11_17:C3660] +xref: ICD10CM:N60.3 +xref: ICD9CM:610.3 +xref: NCI:C3660 +xref: SNOMEDCT_US_2015_03_01:29070004 +xref: UMLS_CUI:C0156318 +is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast + +[Term] +id: DOID:10354 +name: breast fibrocystic disease +synonym: "breast Fibrocystic Change" EXACT [NCI2004_11_17:C3039] +synonym: "Diffuse cystic mastopathy" EXACT [SNOMEDCT_2005_07_31:237436008] +synonym: "Diffuse cystic mastopathy" EXACT [ICD9CM_2006:610.1] +synonym: "FIBROcystic DISEASE OF breast" EXACT [MTH:302] +synonym: "Fibrocystic disease of breast" EXACT [SNOMEDCT_2005_07_31:198091009] +synonym: "Fibrocystic disease of breast" EXACT [MTH:119] +synonym: "Fibrocystic disease of breast" EXACT [MTHICD9_2006:610.1] +synonym: "Fibrocystic disease of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:27431007] +xref: ICD10CM:N60 +xref: ICD10CM:N60.1 +xref: ICD9CM:610.1 +xref: MSH:D005348 +xref: NCI:C3039 +xref: SNOMEDCT_US_2015_03_01:198091009 +xref: SNOMEDCT_US_2015_03_01:237436008 +xref: SNOMEDCT_US_2015_03_01:27431007 +xref: UMLS_CUI:C0016034 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1036 +name: chronic leukemia +def: "A leukemia that develops slowly." [url:http\://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html] +synonym: "adult chronic leukemia" RELATED [] +synonym: "CLL" RELATED [] +synonym: "CML" RELATED [] +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:10361 +name: eosinophilic meningitis +synonym: "Eosinophilic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25671008] +xref: ICD9CM:322.1 +xref: SNOMEDCT_US_2015_03_01:25671008 +xref: UMLS_CUI:C0154652 +is_a: DOID:10341 ! chronic meningitis + +[Term] +id: DOID:10366 +name: epididymis cancer +synonym: "malignant Epididymal tumor" EXACT [NCI2004_11_17:C3558] +synonym: "malignant neoplasm of epididymis" EXACT [SNOMEDCT_2005_07_31:93783009] +synonym: "malignant neoplasm of epididymis" EXACT [ICD9CM_2006:187.5] +synonym: "malignant tumor of epididymis (disorder)" EXACT [SNOMEDCT_2005_07_31:363452003] +xref: ICD10CM:C63.0 +xref: ICD9CM:187.5 +xref: NCI:C3558 +xref: SNOMEDCT_US_2015_03_01:363452003 +xref: SNOMEDCT_US_2015_03_01:93783009 +xref: UMLS_CUI:C0153602 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:10367 +name: metastatic tumor to the epididymis +synonym: "metastatic neoplasm to the Epididymis" EXACT [NCI2004_11_17:C8544] +synonym: "secondary malignant neoplasm of epididymis (disorder)" EXACT [SNOMEDCT_2005_07_31:94283001] +is_obsolete: true + +[Term] +id: DOID:10368 +name: epididymis adenocarcinoma +def: "An epididymis cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the epididymis" RELATED [] +xref: NCI:C39957 +xref: UMLS_CUI:C1510784 +is_a: DOID:10366 ! epididymis cancer + +[Term] +id: DOID:1037 +name: lymphoblastic leukemia +def: "A leukemia that has_material_basis_in lymphoblasts (immature white blood cells)." [url:http\://www.cancer.gov/dictionary?CdrID=616067] +subset: DO_cancer_slim +xref: ICD10CM:C91 +xref: ICD10CM:C91.9 +xref: ICD10CM:C91.90 +xref: ICD9CM:204 +xref: ICD9CM:204.9 +xref: MSH:D007945 +xref: NCI:C7539 +xref: SNOMEDCT_US_2015_03_01:154587007 +xref: SNOMEDCT_US_2015_03_01:188725004 +xref: SNOMEDCT_US_2015_03_01:188731001 +xref: SNOMEDCT_US_2015_03_01:190033006 +xref: SNOMEDCT_US_2015_03_01:269631008 +xref: SNOMEDCT_US_2015_03_01:32280000 +xref: SNOMEDCT_US_2015_03_01:93170002 +xref: UMLS_CUI:C0023448 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:10371 +name: yaws +def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions." [url:http\://en.wikipedia.org/wiki/Yaws, url:http\://www.who.int/mediacentre/factsheets/fs316/en/] +subset: gram-negative_bacterial_infectious_disease +synonym: "Bouba" EXACT [] +synonym: "frambesia" EXACT [] +synonym: "frambesia tropica" EXACT [] +synonym: "frambosie" EXACT [] +synonym: "polypapilloma tropicum" EXACT [] +synonym: "thymosis" EXACT [] +xref: ICD10CM:A66 +xref: ICD10CM:A66.9 +xref: ICD9CM:102 +xref: ICD9CM:102.9 +xref: MSH:D015001 +xref: NCI:C41353 +xref: SNOMEDCT_US_2015_03_01:154391003 +xref: SNOMEDCT_US_2015_03_01:186974004 +xref: SNOMEDCT_US_2015_03_01:187372000 +xref: SNOMEDCT_US_2015_03_01:266213004 +xref: SNOMEDCT_US_2015_03_01:70647001 +xref: UMLS_CUI:C0043388 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:10375 +name: suppression amblyopia +synonym: "Strabismic amblyopia" EXACT [ICD9CM_2006:368.01] +synonym: "Strabismic amblyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:35600002] +synonym: "Suppression amblyopia" EXACT [MTHICD9_2006:368.01] +xref: ICD10CM:H53.03 +xref: ICD9CM:368.01 +xref: MSH:D000550 +xref: SNOMEDCT_US_2015_03_01:35600002 +xref: UMLS_CUI:C0750903 +is_a: DOID:10376 ! amblyopia + +[Term] +id: DOID:10376 +name: amblyopia +xref: CSP:1114-9655 +xref: ICD10CM:H53.00 +xref: ICD9CM:368.00 +xref: MSH:D000550 +xref: SNOMEDCT_US_2015_03_01:111517004 +xref: SNOMEDCT_US_2015_03_01:155145007 +xref: SNOMEDCT_US_2015_03_01:193637007 +xref: SNOMEDCT_US_2015_03_01:267627009 +xref: SNOMEDCT_US_2015_03_01:267726008 +xref: SNOMEDCT_US_2015_03_01:387742006 +xref: UMLS_CUI:C0002418 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:10377 +name: ametropic amblyopia +synonym: "Refractive amblyopia" EXACT [ICD9CM_2006:368.03] +synonym: "Refractive amblyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:90927000] +xref: ICD10CM:H53.02 +xref: ICD9CM:368.03 +xref: SNOMEDCT_US_2015_03_01:90927000 +xref: UMLS_CUI:C0152190 +is_a: DOID:10376 ! amblyopia + +[Term] +id: DOID:10378 +name: disuse amblyopia +synonym: "Deprivation amblyopia" EXACT [ICD9CM_2006:368.02] +synonym: "Deprivation amblyopia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:21457000] +xref: ICD10CM:H53.01 +xref: ICD9CM:368.02 +xref: SNOMEDCT_US_2015_03_01:193638002 +xref: SNOMEDCT_US_2015_03_01:21457000 +xref: UMLS_CUI:C0152189 +is_a: DOID:10376 ! amblyopia + +[Term] +id: DOID:1038 +name: mature T-cell neoplasm +is_obsolete: true + +[Term] +id: DOID:10380 +name: precipitate labor +alt_id: DOID:10379 +alt_id: DOID:14438 +synonym: "Precipitate labor, antepartum" EXACT [] +synonym: "Precipitate labor, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10381 +name: staphylococcal meningitis +subset: gram-positive_bacterial_infectious_disease +synonym: "Staphylococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:12166008] +is_obsolete: true + +[Term] +id: DOID:10383 +name: amyotrophic neuralgia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "neuralgic amyotrophy" EXACT [SNOMEDCT_2005_07_31:3548001] +synonym: "neuralgic amyotrophy" EXACT [ICD9CM_2006:353.5] +synonym: "neuralgic amyotrophy" EXACT [SNOMEDCT_2005_07_31:193113006] +synonym: "neuralgic amyotrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:26609002] +xref: ICD10CM:G54.5 +xref: ICD9CM:353.5 +xref: MSH:D020968 +xref: OMIM:162100 +xref: SNOMEDCT_US_2015_03_01:193113006 +xref: SNOMEDCT_US_2015_03_01:26609002 +xref: SNOMEDCT_US_2015_03_01:3548001 +xref: UMLS_CUI:C1510479 +is_a: DOID:3690 ! brachial plexus neuropathy + +[Term] +id: DOID:10384 +name: papilledema associated with decreased ocular pressure +synonym: "Papilledema associated with decreased ocular pressure (disorder)" EXACT [SNOMEDCT_2005_07_31:79155000] +is_obsolete: true + +[Term] +id: DOID:1039 +name: prolymphocytic leukemia +xref: MSH:D015463 +xref: NCI:C3181 +xref: SNOMEDCT_US_2015_03_01:10300002 +xref: SNOMEDCT_US_2015_03_01:110006004 +xref: SNOMEDCT_US_2015_03_01:128923008 +xref: UMLS_CUI:C0023486 +is_a: DOID:1040 ! chronic lymphocytic leukemia + +[Term] +id: DOID:10393 +name: secondary hypertrophic osteoarthropathy +synonym: "Bamberger-Marie disease" EXACT [MTHICD9_2006:731.2] +synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [SNOMEDCT_2005_07_31:203357004] +synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [ICD9CM_2006:731.2] +synonym: "hypertrophic pulmonary osteoarthropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:222712005] +synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:46922002] +synonym: "Marie Bamberger disease" EXACT [CSP2005:2715-1220] +xref: ICD10CM:M89.4 +xref: ICD9CM:731.2 +xref: MSH:D010005 +xref: SNOMEDCT_US_2015_03_01:203357004 +xref: SNOMEDCT_US_2015_03_01:222712005 +xref: SNOMEDCT_US_2015_03_01:46922002 +xref: UMLS_CUI:C0029412 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:10398 +name: pneumonic plague +alt_id: DOID:10401 +alt_id: DOID:10402 +def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing." [url:http\://emedicine.medscape.com/article/829233-overview#a0104, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "primary pneumonic plague" EXACT [] +synonym: "secondary pneumonic plague" EXACT [] +xref: ICD10CM:A20.2 +xref: ICD9CM:020.3 +xref: ICD9CM:020.4 +xref: ICD9CM:020.5 +xref: MSH:D010930 +xref: SNOMEDCT_US_2015_03_01:186283004 +xref: SNOMEDCT_US_2015_03_01:35339003 +xref: SNOMEDCT_US_2015_03_01:38976008 +xref: SNOMEDCT_US_2015_03_01:67525007 +xref: UMLS_CUI:C0152937 +xref: UMLS_CUI:C0152938 +xref: UMLS_CUI:C0524688 +is_a: DOID:3482 ! plague + +[Term] +id: DOID:10399 +name: seminal vesicle chronic gonorrhea +synonym: "chronic gonococcal seminal vesiculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:23975003] +synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [ICD9CM_2006:098.34] +xref: ICD9CM:098.34 +xref: SNOMEDCT_US_2015_03_01:23975003 +xref: UMLS_CUI:C0153205 +is_a: DOID:10400 ! gonococcal seminal vesiculitis + +[Term] +id: DOID:104 +name: bacterial infectious disease +def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria." [url:http\://en.wikipedia.org/wiki/Pathogenic_bacteria] +xref: ICD10CM:A49 +xref: ICD10CM:A49.9 +xref: MSH:D001424 +xref: NCI:C2890 +xref: SNOMEDCT_US_2015_03_01:154318005 +xref: SNOMEDCT_US_2015_03_01:186470002 +xref: SNOMEDCT_US_2015_03_01:187347000 +xref: SNOMEDCT_US_2015_03_01:266182006 +xref: SNOMEDCT_US_2015_03_01:266187000 +xref: SNOMEDCT_US_2015_03_01:301811001 +xref: SNOMEDCT_US_2015_03_01:87628006 +xref: UMLS_CUI:C0004623 +is_a: DOID:0050117 ! disease by infectious agent + +[Term] +id: DOID:1040 +name: chronic lymphocytic leukemia +def: "A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood." [url:http\://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=346545] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "B-cell chronic lymphocytic leukemia" EXACT [] +synonym: "B-cell chronic lymphoid leukemia" RELATED [] +synonym: "chronic lymphatic leukemia" EXACT [] +synonym: "CLL" EXACT [] +synonym: "lymphoplasmacytic leukemia" EXACT [] +xref: EFO:0000095 +xref: ICD10CM:C91.1 +xref: ICD10CM:C91.10 +xref: ICD9CM:204.1 +xref: MSH:D015451 +xref: NCI:C3162 +xref: NCI:C3163 +xref: OMIM:109543 +xref: OMIM:151400 +xref: OMIM:609630 +xref: OMIM:612557 +xref: OMIM:612558 +xref: OMIM:612559 +xref: ORDO:67038 +xref: SNOMEDCT_US_2015_03_01:154589005 +xref: SNOMEDCT_US_2015_03_01:277473004 +xref: SNOMEDCT_US_2015_03_01:51092000 +xref: SNOMEDCT_US_2015_03_01:92814006 +xref: UMLS_CUI:C0023434 +is_a: DOID:1037 ! lymphoblastic leukemia + +[Term] +id: DOID:10400 +name: gonococcal seminal vesiculitis +synonym: "Gonococcal seminal vesiculitis (acute)" EXACT [ICD9CM_2006:098.14] +synonym: "Gonococcal seminal vesiculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:301990003] +synonym: "Gonorrhea of seminal vesicle" EXACT [MTHICD9_2006:098.14] +xref: SNOMEDCT_US_2015_03_01:301990003 +xref: UMLS_CUI:C0578661 +is_a: DOID:9365 ! vesiculitis + +[Term] +id: DOID:1042 +name: Generalized infection during labor +alt_id: DOID:10262 +alt_id: DOID:1041 +synonym: "antepartum generalized infection during labor" EXACT [] +synonym: "Generalized infection during labor, delivered" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10423 +name: acute pericementitis +synonym: "acute pericementitis (disorder)" EXACT [SNOMEDCT_2005_07_31:196362006] +synonym: "acute Periodontitis" EXACT [NCI2004_11_17:C34354] +synonym: "acute periodontitis" EXACT [ICD9CM_2006:523.3] +synonym: "acute periodontitis" EXACT [SNOMEDCT_2005_07_31:196361004] +synonym: "acute periodontitis" EXACT [SNOMEDCT_2005_07_31:155646007] +synonym: "acute periodontitis (disorder)" EXACT [SNOMEDCT_2005_07_31:21638000] +synonym: "acute periodontitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196364007] +xref: ICD9CM:523.3 +xref: ICD9CM:523.33 +xref: NCI:C34354 +xref: SNOMEDCT_US_2015_03_01:155646007 +xref: SNOMEDCT_US_2015_03_01:196361004 +xref: SNOMEDCT_US_2015_03_01:196362006 +xref: SNOMEDCT_US_2015_03_01:196364007 +xref: SNOMEDCT_US_2015_03_01:21638000 +xref: UMLS_CUI:C0001342 +is_a: DOID:824 ! periodontitis + +[Term] +id: DOID:10426 +name: Klippel-Feil syndrome +alt_id: DOID:14747 +def: "A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra." [url:http\://emedicine.medscape.com/article/1264848-overview, url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, url:http\://www.healthline.com/galecontent/klippel-feil-syndrome, url:http\://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, url:http\://www.wheelessonline.com/ortho/klippel_feil_syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "autosomal dominant Klippel-Feil syndrome" EXACT [] +synonym: "congenital dystrophia brevicollis" EXACT [SNOMEDCT_2005_07_31:388981000] +synonym: "congenital synostosis of cervical vertebrae" EXACT [] +synonym: "Klippel-Feil and Turner syndrome" EXACT [SNOMEDCT_2005_07_31:129581007] +synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT [] +xref: ICD10CM:Q76.1 +xref: ICD9CM:756.16 +xref: MSH:D007714 +xref: NCI:C98967 +xref: OMIM:118100 +xref: OMIM:214300 +xref: OMIM:600156 +xref: OMIM:606874 +xref: OMIM:606875 +xref: OMIM:608462 +xref: OMIM:611644 +xref: OMIM:613702 +xref: ORDO:2345 +xref: SNOMEDCT_US_2015_03_01:129581007 +xref: SNOMEDCT_US_2015_03_01:157003009 +xref: SNOMEDCT_US_2015_03_01:205441002 +xref: SNOMEDCT_US_2015_03_01:268349005 +xref: SNOMEDCT_US_2015_03_01:388981000 +xref: SNOMEDCT_US_2015_03_01:5601008 +xref: UMLS_CUI:C0022738 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:10428 +name: stable condition keratoconus +synonym: "Keratoconus, stable condition (disorder)" EXACT [SNOMEDCT_2005_07_31:193844000] +synonym: "Stable condition keratoconus (disorder)" EXACT [SNOMEDCT_2005_07_31:75253008] +xref: ICD10CM:H18.61 +xref: ICD9CM:371.61 +xref: SNOMEDCT_US_2015_03_01:193844000 +xref: SNOMEDCT_US_2015_03_01:75253008 +xref: UMLS_CUI:C0155131 +is_a: DOID:10126 ! keratoconus + +[Term] +id: DOID:10435 +name: purulent acute otitis media +def: "A suppurative otitis media with sudden onset and a short course." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] +xref: ICD9CM:382.02 +xref: UMLS_CUI:C0155439 +is_a: DOID:11506 ! suppurative otitis media + +[Term] +id: DOID:10437 +name: metastasis to lymph node +is_obsolete: true + +[Term] +id: DOID:10439 +name: Mooren's ulcer +synonym: "Mooren ulcer" EXACT [] +synonym: "Mooren's ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:22440001] +xref: ICD10CM:H16.05 +xref: ICD9CM:370.07 +xref: SNOMEDCT_US_2015_03_01:22440001 +xref: UMLS_CUI:C0155072 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:1044 +name: nontraumatic rupture of muscle +synonym: "Non-traumatic muscle tear" EXACT [SNOMEDCT_2005_07_31:156729009] +synonym: "Non-traumatic muscle tear" EXACT [SNOMEDCT_2005_07_31:268106003] +synonym: "Nontraumatic rupture of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:29191005] +synonym: "Rupture of muscle, nontraumatic" EXACT [ICD9CM_2006:728.83] +is_obsolete: true + +[Term] +id: DOID:10440 +name: mycotic corneal ulcer +synonym: "Mycotic corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:397977001] +synonym: "Mycotic corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:59939007] +xref: ICD10CM:H16.06 +xref: ICD9CM:370.05 +xref: SNOMEDCT_US_2015_03_01:397977001 +xref: SNOMEDCT_US_2015_03_01:59939007 +xref: UMLS_CUI:C0155071 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:10441 +name: marginal corneal ulcer +synonym: "Marginal corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:47398006] +xref: ICD10CM:H16.04 +xref: ICD9CM:370.01 +xref: SNOMEDCT_US_2015_03_01:47398006 +xref: UMLS_CUI:C0155067 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:10442 +name: hypopyon ulcer +synonym: "Hypopyon ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:6395007] +xref: ICD10CM:H16.03 +xref: ICD9CM:370.04 +xref: SNOMEDCT_US_2015_03_01:193762002 +xref: SNOMEDCT_US_2015_03_01:267633000 +xref: SNOMEDCT_US_2015_03_01:6395007 +xref: UMLS_CUI:C0155070 +is_a: DOID:10443 ! hypopyon + +[Term] +id: DOID:10443 +name: hypopyon +synonym: "Hypopyon (disorder)" EXACT [SNOMEDCT_2005_07_31:87807004] +xref: ICD10CM:H20.05 +xref: ICD9CM:364.05 +xref: NCI:C50593 +xref: SNOMEDCT_US_2015_03_01:87807004 +xref: UMLS_CUI:C0020641 +is_a: DOID:9383 ! iridocyclitis + +[Term] +id: DOID:10444 +name: ring corneal ulcer +synonym: "Ring corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:111520007] +xref: ICD10CM:H16.02 +xref: ICD9CM:370.02 +xref: SNOMEDCT_US_2015_03_01:111520007 +xref: SNOMEDCT_US_2015_03_01:193760005 +xref: UMLS_CUI:C0155068 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:10445 +name: perforated corneal ulcer +synonym: "Perforated corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:46606001] +xref: ICD10CM:H16.07 +xref: ICD9CM:370.06 +xref: SNOMEDCT_US_2015_03_01:46606001 +xref: UMLS_CUI:C0151844 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:10447 +name: thyroid dysfunction complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:10446 +alt_id: DOID:14076 +alt_id: DOID:14077 +synonym: "antepartum thyroid dysfunction" EXACT [] +synonym: "postpartum thyroid dysfunction" EXACT [] +synonym: "Thyroid dysfunction of mother, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1045 +name: fascia disease +is_obsolete: true + +[Term] +id: DOID:10456 +name: tonsillitis +alt_id: DOID:10454 +alt_id: DOID:13751 +def: "An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur." [url:http\://en.wikipedia.org/wiki/Tonsillitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis] +synonym: "chronic tonsillitis" EXACT [] +synonym: "chronic tonsillitis (disorder)" EXACT [SNOMEDCT_2005_07_31:90979004] +synonym: "Throat infection - tonsillitis" EXACT [SNOMEDCT_2005_07_31:195665006] +synonym: "Tonsillitis (disorder)" EXACT [SNOMEDCT_2005_07_31:90176007] +synonym: "Tonsillitis, NOS" EXACT [MTHICD9_2006:463] +xref: ICD10CM:J35.01 +xref: ICD9CM:474.00 +xref: MSH:D014069 +xref: SNOMEDCT_US_2015_03_01:155530006 +xref: SNOMEDCT_US_2015_03_01:195665006 +xref: SNOMEDCT_US_2015_03_01:195794009 +xref: SNOMEDCT_US_2015_03_01:90176007 +xref: SNOMEDCT_US_2015_03_01:90979004 +xref: UMLS_CUI:C0040425 +xref: UMLS_CUI:C0149517 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:10457 +name: Legionnaires' disease +def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." [url:http\://en.wikipedia.org/wiki/Legionellosis] +subset: gram-negative_bacterial_infectious_disease +synonym: "(Legionella) or (Legionnaire's disease)" EXACT [SNOMEDCT_2005_07_31:266186009] +synonym: "Infection by Legionella pneumophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:269574000] +synonym: "Legionella pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195889001] +xref: ICD10CM:A48.1 +xref: ICD9CM:482.84 +xref: MSH:D007877 +xref: SNOMEDCT_US_2015_03_01:154315008 +xref: SNOMEDCT_US_2015_03_01:195889001 +xref: SNOMEDCT_US_2015_03_01:266186009 +xref: SNOMEDCT_US_2015_03_01:269574000 +xref: SNOMEDCT_US_2015_03_01:312403005 +xref: SNOMEDCT_US_2015_03_01:74881002 +xref: UMLS_CUI:C0023241 +is_a: DOID:10458 ! legionellosis + +[Term] +id: DOID:10458 +name: legionellosis +def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." [url:http\://en.wikipedia.org/wiki/Legionellosis, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm] +subset: gram-negative_bacterial_infectious_disease +synonym: "Legionella infection (disorder)" EXACT [SNOMEDCT_2005_07_31:26726000] +xref: MSH:D007876 +xref: SNOMEDCT_US_2015_03_01:26726000 +xref: UMLS_CUI:C0023240 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:10459 +name: common cold +def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold] +synonym: "acute coryza" EXACT [] +synonym: "acute Nasopharyngitis" EXACT [NCI2004_11_17:C34500] +synonym: "acute nasopharyngitis [common cold]" EXACT [ICD9CM_2006:460] +synonym: "acute rhinitis" EXACT [SNOMEDCT_2005_07_31:232341009] +synonym: "Acute viral rhinopharyngitis" EXACT [] +synonym: "Nasopharyngitis - acute" EXACT [SNOMEDCT_2005_07_31:266377009] +synonym: "Nasopharyngitis, acute" EXACT [MTHICD9_2006:460] +synonym: "rhino-sinusitis" EXACT [] +xref: ICD10CM:J00 +xref: ICD9CM:460 +xref: MSH:D003139 +xref: NCI:C34500 +xref: NCI:C78599 +xref: SNOMEDCT_US_2015_03_01:155497009 +xref: SNOMEDCT_US_2015_03_01:195648002 +xref: SNOMEDCT_US_2015_03_01:232341009 +xref: SNOMEDCT_US_2015_03_01:232342002 +xref: SNOMEDCT_US_2015_03_01:266377009 +xref: SNOMEDCT_US_2015_03_01:54150009 +xref: SNOMEDCT_US_2015_03_01:82272006 +xref: UMLS_CUI:C0009443 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:10460 +name: nasopharyngitis +alt_id: DOID:11587 +def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx." [url:http\://medical-dictionary.thefreedictionary.com/nasopharyngitis, url:http\://www.merriam-webster.com/medical/nasopharyngitis] +synonym: "chronic nasopharyngitis" EXACT [] +synonym: "chronic nasopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:47841006] +synonym: "Nasopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:51476001] +synonym: "Nasopharyngitis NOS" EXACT [MTHICD9_2006:460] +xref: ICD10CM:J00 +xref: ICD10CM:J31.1 +xref: ICD9CM:472.2 +xref: MSH:D009304 +xref: NCI:C34837 +xref: SNOMEDCT_US_2015_03_01:155524006 +xref: SNOMEDCT_US_2015_03_01:47841006 +xref: SNOMEDCT_US_2015_03_01:51476001 +xref: UMLS_CUI:C0027441 +xref: UMLS_CUI:C0155826 +is_a: DOID:9561 ! nasopharyngeal disease + +[Term] +id: DOID:10461 +name: dentin caries +synonym: "Compound dental caries (disorder)" EXACT [SNOMEDCT_2005_07_31:50047001] +synonym: "Dental caries extending into dentine" EXACT [ICD9CM_2006:521.02] +synonym: "Dentin caries, NOS" EXACT [SNOMEDCT_2005_07_31:44828002] +xref: ICD9CM:521.02 +xref: SNOMEDCT_US_2015_03_01:442551007 +xref: SNOMEDCT_US_2015_03_01:44828002 +xref: SNOMEDCT_US_2015_03_01:50047001 +xref: UMLS_CUI:C0266846 +is_a: DOID:216 ! dental caries + +[Term] +id: DOID:10469 +name: diabetes mellitus juvenile type, uncontrolled, with neurological manifestations +synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations" EXACT [ICD9CM_2006:250.63] +is_obsolete: true + +[Term] +id: DOID:1047 +name: Mental disorder complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:1046 +alt_id: DOID:10663 +alt_id: DOID:10664 +alt_id: DOID:10665 +alt_id: DOID:12734 +alt_id: DOID:14128 +alt_id: DOID:9701 +synonym: "Mental disorder of mother, antepartum" EXACT [] +synonym: "Mental disorder of mother, with delivery" EXACT [] +synonym: "peripheral neuritis antepartum" EXACT [] +synonym: "peripheral neuritis in pregnancy, with delivery" EXACT [] +synonym: "peripheral neuritis postpartum" EXACT [] +synonym: "postpartum edema or excessive weight gain" EXACT [] +synonym: "postpartum mental disorder of mother" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10471 +name: patellar tendinitis +synonym: "Patellar tendonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:37785001] +xref: ICD10CM:M76.5 +xref: ICD10CM:M76.50 +xref: ICD9CM:726.64 +xref: SNOMEDCT_US_2015_03_01:156662006 +xref: SNOMEDCT_US_2015_03_01:268089006 +xref: SNOMEDCT_US_2015_03_01:37785001 +xref: UMLS_CUI:C0158317 +is_a: DOID:971 ! tendinitis + +[Term] +id: DOID:10472 +name: candidal pneumonia +def: "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] +synonym: "Candidiasis of lung" EXACT [ICD9CM_2006:112.4] +is_obsolete: true + +[Term] +id: DOID:10473 +name: wrist or carpus enthesopathy +synonym: "Enthesopathy of the wrist and carpus (disorder)" EXACT [SNOMEDCT_2005_07_31:202859000] +synonym: "Enthesopathy of wrist and carpus" EXACT [ICD9CM_2006:726.4] +synonym: "Enthesopathy of wrist and/or carpus (disorder)" EXACT [SNOMEDCT_2005_07_31:33439002] +synonym: "Wrist or carpus enthesopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:202860005] +is_obsolete: true + +[Term] +id: DOID:10480 +name: diaphragmatic eventration +xref: ICD10CM:Q79.1 +xref: MSH:D003965 +xref: NCI:C98912 +xref: SNOMEDCT_US_2015_03_01:157006001 +xref: SNOMEDCT_US_2015_03_01:268351009 +xref: SNOMEDCT_US_2015_03_01:34168003 +xref: UMLS_CUI:C0011981 +is_a: DOID:10481 ! diaphragm disease + +[Term] +id: DOID:10481 +name: diaphragm disease +def: "A muscular disease that is located_in the diaphragm." [url:http\://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm] +xref: ICD10CM:J98.6 +xref: ICD9CM:519.4 +xref: SNOMEDCT_US_2015_03_01:196182001 +xref: SNOMEDCT_US_2015_03_01:48475001 +xref: UMLS_CUI:C0152097 +is_a: DOID:0080000 ! muscular disease + +[Term] +id: DOID:10483 +name: hypertonic, incoordinate, or prolonged uterine contractions +alt_id: DOID:10482 +alt_id: DOID:11860 +is_obsolete: true + +[Term] +id: DOID:10485 +name: esophageal atresia +synonym: "Congenital atresia of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:26179002] +synonym: "Congenital imperforate esophagus" EXACT [MTHICD9_2006:750.3] +synonym: "Imperforate esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:204656005] +synonym: "Oesophageal atresia" EXACT [SNOMEDCT_2005_07_31:156947007] +xref: ICD10CM:Q39.0 +xref: MSH:D004933 +xref: NCI:C87072 +xref: SNOMEDCT_US_2015_03_01:156947007 +xref: SNOMEDCT_US_2015_03_01:204656005 +xref: SNOMEDCT_US_2015_03_01:26179002 +xref: UMLS_CUI:C0014850 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:10486 +name: intestinal atresia +xref: ICD10CM:Q41.1 +xref: MSH:D007409 +xref: NCI:C84790 +xref: UMLS_CUI:C0021828 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10487 +name: Hirschsprung's disease +def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/, url:http\://en.wikipedia.org/wiki/Hirschsprung%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001140.htm, url:http\://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "aganglionic megacolon" EXACT [NCI2004_11_17:C34700] +synonym: "congenital megacolon" EXACT [] +synonym: "Hirschsprung disease" EXACT [] +synonym: "macrocolon" EXACT [SNOMEDCT_2005_07_31:204744001] +synonym: "pelvirectal achalasia" EXACT [CSP2005:0724-7702] +synonym: "total intestinal aganglionosis" EXACT [] +xref: EFOpat_id:647 +xref: ICD10CM:Q43.1 +xref: MSH:D006627 +xref: NCI:C34700 +xref: OMIM:142623 +xref: OMIM:202550 +xref: OMIM:600155 +xref: OMIM:613711 +xref: OMIM:613712 +xref: ORDO:388 +xref: SNOMEDCT_US_2015_03_01:156957008 +xref: SNOMEDCT_US_2015_03_01:204738000 +xref: SNOMEDCT_US_2015_03_01:204739008 +xref: SNOMEDCT_US_2015_03_01:204742002 +xref: SNOMEDCT_US_2015_03_01:204744001 +xref: SNOMEDCT_US_2015_03_01:360436002 +xref: SNOMEDCT_US_2015_03_01:367495003 +xref: SNOMEDCT_US_2015_03_01:6687001 +xref: UMLS_CUI:C0019569 +is_a: DOID:11372 ! megacolon + +[Term] +id: DOID:10488 +name: imperforate anus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "anal atresia (disorder)" EXACT [SNOMEDCT_2005_07_31:204712000] +synonym: "Congenital atresia of anus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:14118000] +synonym: "Congenital or infantile occlusion of anus" EXACT [MTHICD9_2006:751.2] +synonym: "Imperforate anus" EXACT [SNOMEDCT_2005_07_31:156956004] +synonym: "Imperforate anus (disorder)" EXACT [SNOMEDCT_2005_07_31:204731006] +synonym: "Imperforate anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204733009] +xref: ICD10CM:Q42.3 +xref: MSH:D001006 +xref: NCI:C84784 +xref: OMIM:207500 +xref: OMIM:301800 +xref: SNOMEDCT_US_2015_03_01:14118000 +xref: SNOMEDCT_US_2015_03_01:156956004 +xref: SNOMEDCT_US_2015_03_01:204712000 +xref: SNOMEDCT_US_2015_03_01:204731006 +xref: SNOMEDCT_US_2015_03_01:204733009 +xref: UMLS_CUI:C0003466 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:10489 +name: transient disorder of initiating or maintaining wakefulness +is_obsolete: true + +[Term] +id: DOID:10493 +name: adrenal cortical hypofunction +synonym: "Adrenal cortical hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:68588005] +synonym: "Adrenal cortical hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:386584007] +synonym: "Adrenal Cortical Insufficiency" EXACT [NCI2004_11_17:C27150] +synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:154707007] +synonym: "Corticoadrenal insufficiency" EXACT [ICD9CM_2006:255.4] +synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:267483004] +synonym: "Corticoadrenal insufficiency NOS" EXACT [SNOMEDCT_2005_07_31:190527008] +synonym: "Corticoadrenal insufficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267398003] +xref: ICD9CM:255.4 +xref: SNOMEDCT_US_2015_03_01:154707007 +xref: SNOMEDCT_US_2015_03_01:190527008 +xref: SNOMEDCT_US_2015_03_01:267398003 +xref: SNOMEDCT_US_2015_03_01:267483004 +xref: SNOMEDCT_US_2015_03_01:386584007 +xref: SNOMEDCT_US_2015_03_01:68588005 +xref: UMLS_CUI:C0405580 +is_a: DOID:3952 ! adrenal cortex disease + +[Term] +id: DOID:10494 +name: pulmonary valve syphilitic endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic endocarditis of pulmonary valve (disorder)" EXACT [SNOMEDCT_2005_07_31:186878002] +is_obsolete: true + +[Term] +id: DOID:10499 +name: orbital granuloma +synonym: "orbital Granuloma" EXACT [NCI2004_11_17:C3653] +synonym: "orbital granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:72776003] +xref: ICD10CM:H05.11 +xref: ICD9CM:376.11 +xref: NCI:C3653 +xref: SNOMEDCT_US_2015_03_01:194008000 +xref: SNOMEDCT_US_2015_03_01:72776003 +xref: UMLS_CUI:C0155262 +is_a: DOID:1397 ! chronic orbital inflammation + +[Term] +id: DOID:10501 +name: menopausal and postmenopausal disorder +is_obsolete: true + +[Term] +id: DOID:10505 +name: generalized nonconvulsive epilepsy disease +alt_id: DOID:10504 +synonym: "generalized nonconvulsive epilepsy with intractable epilepsy" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10507 +name: Dressler's syndrome +def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium." [url:http\://en.wikipedia.org/wiki/Dressler%27s_syndrome, url:http\://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307] +synonym: "Dressler syndrome" EXACT [] +synonym: "Postmyocardial infarction syndrome" EXACT [ICD9CM_2006:411.0] +synonym: "Postmyocardial infarction syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:66189004] +xref: ICD10CM:I24.1 +xref: ICD9CM:411.0 +xref: SNOMEDCT_US_2015_03_01:66189004 +xref: UMLS_CUI:C0152107 +is_a: DOID:1787 ! pericarditis + +[Term] +id: DOID:10508 +name: Bacillus anthracis pneumonia +def: "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis." [url:http\://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/8460135] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Anthrax pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195902009] +synonym: "Pneumonia in anthrax" EXACT [ICD9CM_2006:484.5] +synonym: "Woolsorters' pneumonia" EXACT [SNOMEDCT_2005_07_31:11389007] +is_obsolete: true + +[Term] +id: DOID:10510 +name: influenza virus pneumonia +def: "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills." [url:http\://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html, url:http\://en.wikipedia.org/wiki/Pneumonia] +synonym: "influenza pneumonia" EXACT [] +synonym: "influenzal pneumonia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10516 +name: malignant otitis externa +def: "A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." [url:http\://www.merck.com/mmhe/sec19/ch219/ch219c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000672.htm] +xref: ICD10CM:H60.2 +xref: ICD10CM:H60.20 +xref: ICD9CM:380.14 +xref: SNOMEDCT_US_2015_03_01:194206006 +xref: SNOMEDCT_US_2015_03_01:94146005 +xref: UMLS_CUI:C0155395 +is_a: DOID:9463 ! otitis externa + +[Term] +id: DOID:10518 +name: beach ear +def: "A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds." [url:http\://en.wikipedia.org/wiki/Otitis_externa, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000622.htm] +synonym: "acute bacterial inflammation of external ear (disorder)" EXACT [SNOMEDCT_2005_07_31:39149004] +synonym: "acute otitis externa, diffuse" EXACT [MTHICD9_2006:380.10] +synonym: "acute swimmer's ear" EXACT [SNOMEDCT_2005_07_31:30250000] +synonym: "acute swimmer's ear (disorder)" EXACT [SNOMEDCT_2005_07_31:194201001] +synonym: "acute swimmers' ear" EXACT [ICD9CM_2006:380.12] +synonym: "Tank ear" EXACT [MTHICD9_2006:380.12] +xref: ICD9CM:380.12 +xref: SNOMEDCT_US_2015_03_01:194201001 +xref: SNOMEDCT_US_2015_03_01:30250000 +xref: SNOMEDCT_US_2015_03_01:39149004 +xref: UMLS_CUI:C0155393 +is_a: DOID:9463 ! otitis externa + +[Term] +id: DOID:10519 +name: chronic fungal otitis externa +def: "A otomycosis which is persistent and long-lasting or recurrent." [url:http\://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf] +synonym: "chronic mycotic otitis externa" EXACT [ICD9CM_2006:380.15] +synonym: "chronic mycotic otitis externa (disorder)" EXACT [SNOMEDCT_2005_07_31:111898002] +synonym: "chronic mycotic otitis externa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194209004] +xref: ICD9CM:380.15 +xref: SNOMEDCT_US_2015_03_01:111898002 +xref: SNOMEDCT_US_2015_03_01:194209004 +xref: UMLS_CUI:C0155396 +is_a: DOID:0050147 ! otomycosis + +[Term] +id: DOID:10520 +name: acute infection of pinna +def: "A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." [url:http\://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false] +synonym: "acute infection of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:56663002] +xref: ICD9CM:380.11 +xref: SNOMEDCT_US_2015_03_01:56663002 +xref: UMLS_CUI:C0155392 +is_a: DOID:9463 ! otitis externa + +[Term] +id: DOID:10521 +name: pinna disease +synonym: "disorder of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:41663005] +synonym: "disorder of pinna, unspecified" EXACT [ICD9CM_2006:380.30] +synonym: "Unspecified disorder of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:194226005] +is_obsolete: true + +[Term] +id: DOID:10525 +name: double pterygium +synonym: "Double pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:41564009] +xref: ICD9CM:372.44 +xref: SNOMEDCT_US_2015_03_01:193883003 +xref: SNOMEDCT_US_2015_03_01:41564009 +xref: UMLS_CUI:C0155157 +is_a: DOID:0002116 ! pterygium + +[Term] +id: DOID:10526 +name: conjunctival pterygium +synonym: "Pterygium" EXACT [MTH:U000135] +synonym: "Pterygium" EXACT [SNOMEDCT_2005_07_31:155165000] +synonym: "Pterygium" EXACT [ICD9CM_2006:372.4] +synonym: "Pterygium NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193884009] +synonym: "Pterygium, unspecified" EXACT [ICD9CM_2006:372.40] +synonym: "Unspecified pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:193879003] +synonym: "Web eye" EXACT [SNOMEDCT_2005_07_31:77489003] +is_a: DOID:0002116 ! pterygium +is_a: DOID:10139 ! conjunctival degeneration + +[Term] +id: DOID:10527 +name: Haemophilus influenzae pneumonia +def: "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless." [url:http\://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false, url:http\://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf] +subset: gram-negative_bacterial_infectious_disease +synonym: "Haemophilus influenzae pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:70036007] +synonym: "Pneumonia due to H. influenzae" EXACT [MTHICD9_2006:482.2] +synonym: "pneumonia due to hemophilus influenzae" EXACT [] +synonym: "Pneumonia due to Hemophilus influenzae [H. influenzae]" EXACT [ICD9CM_2006:482.2] +is_obsolete: true + +[Term] +id: DOID:10528 +name: Haemophilus influenzae infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters" EXACT [SNOMEDCT_2005_07_31:186452000] +synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)" EXACT [SNOMEDCT_2005_07_31:187579008] +synonym: "Haemophilus influenzae infection (disorder)" EXACT [SNOMEDCT_2005_07_31:91428005] +synonym: "Haemophilus influenzae infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187344007] +synonym: "HEMOPHILUS INFLUENZA INFECTION" EXACT [MTH:NOCODE] +synonym: "Hemophilus Influenza Infection" EXACT [NCI2004_11_17:C34655] +is_obsolete: true + +[Term] +id: DOID:10529 +name: primary Haemophilus infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Haemophilus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:41659003] +synonym: "Hemophilus Infection" EXACT [NCI2004_11_17:C34654] +is_obsolete: true + +[Term] +id: DOID:1053 +name: developmental dislocation of joint +alt_id: DOID:1052 +alt_id: DOID:11114 +alt_id: DOID:11311 +alt_id: DOID:12032 +alt_id: DOID:12370 +alt_id: DOID:13332 +alt_id: DOID:13797 +alt_id: DOID:1710 +synonym: "Developmental dislocation of ankle and foot joint" EXACT [] +synonym: "Developmental dislocation of forearm joint" EXACT [] +synonym: "Developmental dislocation of hand joint" EXACT [] +synonym: "Developmental dislocation of joint of multiple sites" EXACT [] +synonym: "Developmental dislocation of joint of pelvic region and thigh" EXACT [] +synonym: "Developmental dislocation of joint of shoulder region" EXACT [] +synonym: "Developmental dislocation of lower leg joint" EXACT [] +synonym: "Developmental dislocation of upper arm joint" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10531 +name: pneumococcal pneumonia +def: "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting." [url:http\://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm] +subset: gram-positive_bacterial_infectious_disease +synonym: "Chest infection - pneumococcal pneumonia" EXACT [SNOMEDCT_2005_07_31:195884006] +synonym: "Lobar -pneumococcal -pneumonia" EXACT [SNOMEDCT_2005_07_31:155550005] +synonym: "Lobar -pneumococcal -pneumonia" EXACT [SNOMEDCT_2005_07_31:266392005] +synonym: "Lobar pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:278516003] +synonym: "Pneumococcal lobar pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:266350000] +synonym: "Pneumococcal pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:233607000] +synonym: "Pneumococcal pneumonia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:54339004] +synonym: "Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]" EXACT [ICD9CM_2006:481] +synonym: "Streptococcus pneumoniae pneumonia" EXACT [MTHICD9_2006:481] +is_obsolete: true + +[Term] +id: DOID:10532 +name: streptococcal pneumonia +def: "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." [url:http\://en.wikipedia.org/wiki/Streptococcus] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:10533 +name: viral pneumonia +alt_id: DOID:13167 +def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." [url:http\://en.wikipedia.org/wiki/Pneumonia] +xref: ICD10CM:J12.9 +xref: ICD9CM:480 +xref: ICD9CM:480.9 +xref: MSH:D011024 +xref: SNOMEDCT_US_2015_03_01:155549005 +xref: SNOMEDCT_US_2015_03_01:195880002 +xref: SNOMEDCT_US_2015_03_01:195883000 +xref: SNOMEDCT_US_2015_03_01:75570004 +xref: UMLS_CUI:C0032310 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:10534 +name: stomach cancer +alt_id: DOID:10539 +alt_id: DOID:10542 +alt_id: DOID:10543 +alt_id: DOID:4713 +def: "A gastrointestinal system cancer that is located_in the stomach." [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Stomach] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +synonym: "Ca body - stomach" EXACT [SNOMEDCT_2005_07_31:154450001] +synonym: "ca greater curvature of stomach" EXACT [] +synonym: "Ca lesser curvature - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269530002] +synonym: "gastric neoplasm" EXACT [CSP2005:2010-1611, NCI2004_11_17:C3387, SNOMEDCT_2005_07_31:187731004] +synonym: "malignant neoplasm of body of stomach" EXACT [] +synonym: "malignant neoplasm of lesser curve of stomach unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187743003] +synonym: "malignant tumor of body of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:187742008] +synonym: "malignant tumor of greater curve of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269460009] +synonym: "malignant tumor of lesser curve of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269459004] +xref: ICD10CM:C16 +xref: ICD10CM:C16.2 +xref: ICD10CM:C16.5 +xref: ICD10CM:C16.6 +xref: ICD10CM:C16.9 +xref: ICD9CM:151 +xref: ICD9CM:151.4 +xref: ICD9CM:151.5 +xref: ICD9CM:151.6 +xref: ICD9CM:151.9 +xref: MSH:D013274 +xref: NCI:C3387 +xref: NCI:C9331 +xref: OMIM:137215 +xref: OMIM:613659 +xref: SNOMEDCT_US_2015_03_01:126824007 +xref: SNOMEDCT_US_2015_03_01:154450001 +xref: SNOMEDCT_US_2015_03_01:154451002 +xref: SNOMEDCT_US_2015_03_01:154452009 +xref: SNOMEDCT_US_2015_03_01:154453004 +xref: SNOMEDCT_US_2015_03_01:187731004 +xref: SNOMEDCT_US_2015_03_01:187742008 +xref: SNOMEDCT_US_2015_03_01:187743003 +xref: SNOMEDCT_US_2015_03_01:187744009 +xref: SNOMEDCT_US_2015_03_01:187750004 +xref: SNOMEDCT_US_2015_03_01:255080008 +xref: SNOMEDCT_US_2015_03_01:269458007 +xref: SNOMEDCT_US_2015_03_01:269459004 +xref: SNOMEDCT_US_2015_03_01:269460009 +xref: SNOMEDCT_US_2015_03_01:269529007 +xref: SNOMEDCT_US_2015_03_01:269530002 +xref: SNOMEDCT_US_2015_03_01:269531003 +xref: SNOMEDCT_US_2015_03_01:269532005 +xref: SNOMEDCT_US_2015_03_01:363349007 +xref: SNOMEDCT_US_2015_03_01:93717002 +xref: SNOMEDCT_US_2015_03_01:93818001 +xref: SNOMEDCT_US_2015_03_01:93867004 +xref: SNOMEDCT_US_2015_03_01:94074003 +xref: UMLS_CUI:C0024623 +xref: UMLS_CUI:C0038356 +xref: UMLS_CUI:C0153421 +xref: UMLS_CUI:C0153422 +xref: UMLS_CUI:C0153423 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:10535 +name: coxsackie myocarditis +def: "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart." [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] +is_obsolete: true + +[Term] +id: DOID:10536 +name: malignant gastric granular cell tumor +synonym: "malignant granular cell tumor of stomach" EXACT [NCI2004_11_17:C5484] +xref: NCI:C5484 +xref: UMLS_CUI:C1334585 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:10537 +name: recurrent malignant gastric neoplasm +is_obsolete: true + +[Term] +id: DOID:10538 +name: gastric fundus cancer +synonym: "Ca fundus - stomach" EXACT [SNOMEDCT_2005_07_31:154449001] +synonym: "Ca fundus - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269528004] +synonym: "malignant neoplasm of fundus of stomach" EXACT [SNOMEDCT_2005_07_31:93809003] +synonym: "malignant neoplasm of fundus of stomach" EXACT [ICD9CM_2006:151.3] +synonym: "malignant tumor of fundus of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:187741001] +xref: ICD10CM:C16.1 +xref: ICD9CM:151.3 +xref: SNOMEDCT_US_2015_03_01:154449001 +xref: SNOMEDCT_US_2015_03_01:187741001 +xref: SNOMEDCT_US_2015_03_01:269528004 +xref: SNOMEDCT_US_2015_03_01:93809003 +xref: UMLS_CUI:C0153420 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:1054 +name: glaucoma associated with chamber angle anomalies +synonym: "Glaucoma associated with chamber angle anomalies (disorder)" EXACT [SNOMEDCT_2005_07_31:19039006] +is_obsolete: true + +[Term] +id: DOID:10540 +name: gastric lymphoma +synonym: "gastric lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:276811008] +synonym: "Lymphoma of the stomach" EXACT [NCI2004_11_17:C4636] +xref: MSH:C535648 +xref: NCI:C4636 +xref: SNOMEDCT_US_2015_03_01:276811008 +xref: UMLS_CUI:C0349532 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:10541 +name: microinvasive gastric cancer +synonym: "early gastric cancer (disorder)" EXACT [SNOMEDCT_2005_07_31:276809004] +synonym: "Surface gastric cancer" EXACT [NCI2004_11_17:C27131] +xref: NCI:C27131 +xref: SNOMEDCT_US_2015_03_01:276809004 +xref: UMLS_CUI:C0349530 +is_a: DOID:3717 ! gastric adenocarcinoma + +[Term] +id: DOID:10544 +name: pylorus cancer +synonym: "Ca pylorus - stomach" EXACT [SNOMEDCT_2005_07_31:154448009] +synonym: "Ca pylorus - stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:269527009] +synonym: "malignant neoplasm of Prepylorus" EXACT [MTHICD9_2006:151.1] +synonym: "malignant neoplasm of pylorus of stomach NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187739002] +synonym: "malignant tumor of pylorus (disorder)" EXACT [SNOMEDCT_2005_07_31:187736009] +xref: ICD10CM:C16.4 +xref: ICD9CM:151.1 +xref: SNOMEDCT_US_2015_03_01:154448009 +xref: SNOMEDCT_US_2015_03_01:187736009 +xref: SNOMEDCT_US_2015_03_01:187739002 +xref: SNOMEDCT_US_2015_03_01:269527009 +xref: UMLS_CUI:C0153418 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:10545 +name: coxsackievirus infectious disease +alt_id: DOID:10546 +def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." [url:http\://en.wikipedia.org/wiki/Coxsackievirus] +is_obsolete: true + +[Term] +id: DOID:10547 +name: pyloric antrum cancer +synonym: "malignant neoplasm of antrum of stomach NOS" EXACT [MTHICD9_2006:151.2] +synonym: "malignant tumor of pyloric antrum (disorder)" EXACT [SNOMEDCT_2005_07_31:187740000] +xref: ICD10CM:C16.3 +xref: ICD9CM:151.2 +xref: SNOMEDCT_US_2015_03_01:187740000 +xref: SNOMEDCT_US_2015_03_01:93976007 +xref: UMLS_CUI:C0153419 +is_a: DOID:10544 ! pylorus cancer + +[Term] +id: DOID:10548 +name: cardia cancer +synonym: "Ca cardia - stomach" EXACT [SNOMEDCT_2005_07_31:154447004] +synonym: "malignant neoplasm of cardia of stomach" EXACT [SNOMEDCT_2005_07_31:93738008] +xref: ICD10CM:C16.0 +xref: ICD9CM:151.0 +xref: SNOMEDCT_US_2015_03_01:154447004 +xref: SNOMEDCT_US_2015_03_01:187732006 +xref: SNOMEDCT_US_2015_03_01:187735008 +xref: SNOMEDCT_US_2015_03_01:269526000 +xref: SNOMEDCT_US_2015_03_01:93738008 +xref: UMLS_CUI:C0153417 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:10549 +name: diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations +synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations" EXACT [MTHICD9_2006:250.51] +synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations" EXACT [ICD9CM_2006:250.51] +is_obsolete: true + +[Term] +id: DOID:1055 +name: glaucoma associated with congenital anomalies, dystrophies and systemic syndromes +synonym: "Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes" EXACT [ICD9CM_2006:365.4] +is_obsolete: true + +[Term] +id: DOID:10550 +name: acute eustachian salpingitis +def: "A otosalpingitis with a sudden onset and a short course." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] +synonym: "acute eustachian salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13043002] +synonym: "acute eustachian tube salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194268005] +xref: ICD10CM:H68.01 +xref: ICD10CM:H68.019 +xref: ICD9CM:381.51 +xref: SNOMEDCT_US_2015_03_01:13043002 +xref: SNOMEDCT_US_2015_03_01:194268005 +xref: UMLS_CUI:C0155429 +is_a: DOID:2000 ! otosalpingitis + +[Term] +id: DOID:10551 +name: cerebral toxoplasmosis +def: "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] +synonym: "Encephalitis due to acquired toxoplasmosis" EXACT [MTHICD9_2006:130.0] +synonym: "Meningoencephalitis due to acquired toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:17949000] +synonym: "Meningoencephalitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.0] +synonym: "Toxoplasma encephalitis" EXACT [SNOMEDCT_2005_07_31:187193005] +synonym: "Toxoplasma encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192701001] +is_obsolete: true + +[Term] +id: DOID:10554 +name: meningoencephalitis +def: "A central nervous system disease that involves encephalitis which occurs along with meningitis." [url:http\://en.wikipedia.org/wiki/Encephalitis] +synonym: "Meningoencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:7125002] +xref: ICD10CM:A69.22 +xref: ICD10CM:G04 +xref: MSH:D008590 +xref: NCI:C34813 +xref: SNOMEDCT_US_2015_03_01:7125002 +xref: UMLS_CUI:C0025309 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:10556 +name: supine hypotensive syndrome +alt_id: DOID:10555 +alt_id: DOID:12413 +def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22537582, url:http\://www.ncbi.nlm.nih.gov/pubmed/8164943] +synonym: "antepartum maternal hypotension syndrome" EXACT [] +synonym: "postpartum maternal hypotension syndrome" EXACT [] +xref: ICD9CM:669.20 +xref: UMLS_CUI:C0157456 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:10557 +name: maternal distress +is_obsolete: true + +[Term] +id: DOID:1056 +name: oculocerebrorenal syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "LOWE OCULOCEREBRORENAL SYNDROME" EXACT [] +synonym: "Lowe syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:79385002] +synonym: "oculocerebrorenal syndrome of Lowe" EXACT [CSP2005:1849-1861] +xref: ICD10CM:E72.03 +xref: MSH:D009800 +xref: NCI:C84940 +xref: OMIM:309000 +xref: SNOMEDCT_US_2015_03_01:79385002 +xref: UMLS_CUI:C0028860 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:10561 +name: yaws hyperkeratosis +subset: gram-negative_bacterial_infectious_disease +synonym: "hyperkeratosis due to yaws" EXACT [ICD9CM_2006:102.3] +synonym: "hyperkeratosis due to yaws" EXACT [SNOMEDCT_2005_07_31:186967009] +synonym: "hyperkeratosis of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:53734002] +is_obsolete: true + +[Term] +id: DOID:10564 +name: gangosa of yaws +def: "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue." [url:http\://en.wikipedia.org/wiki/Yaws] +subset: gram-negative_bacterial_infectious_disease +synonym: "Gangosa" EXACT [ICD9CM_2006:102.5] +synonym: "Gangosa of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:24078009] +synonym: "Rhinopharyngitis mutilans" EXACT [MTHICD9_2006:102.5] +is_obsolete: true + +[Term] +id: DOID:10567 +name: late yaws +alt_id: DOID:10370 +alt_id: DOID:10562 +def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis." [url:http\://www.who.int/mediacentre/factsheets/fs316/en/] +subset: gram-negative_bacterial_infectious_disease +synonym: "Gummata and ulcers due to yaws" EXACT [ICD9CM_2006:102.4] +synonym: "Gummata of yaws" EXACT [SNOMEDCT_2005_07_31:22071004] +synonym: "gummatous frambeside" EXACT [] +synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [] +synonym: "nodular late yaws" EXACT [MTHICD9_2006:102.4] +synonym: "nodular late yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:69008006] +synonym: "Ulcers of yaws" EXACT [SNOMEDCT_2005_07_31:57186002] +synonym: "Yaws gummata and ulcers (disorder)" EXACT [SNOMEDCT_2005_07_31:186968004] +xref: ICD10CM:A66.1 +xref: ICD10CM:A66.4 +xref: ICD9CM:102.1 +xref: ICD9CM:102.4 +xref: NCI:C41354 +xref: SNOMEDCT_US_2015_03_01:186968004 +xref: SNOMEDCT_US_2015_03_01:22071004 +xref: SNOMEDCT_US_2015_03_01:57186002 +xref: SNOMEDCT_US_2015_03_01:68556002 +xref: SNOMEDCT_US_2015_03_01:69008006 +xref: UMLS_CUI:C0153234 +xref: UMLS_CUI:C0276007 +xref: UMLS_CUI:C1517744 +is_a: DOID:10371 ! yaws + +[Term] +id: DOID:10568 +name: early yaws +alt_id: DOID:10563 +alt_id: DOID:10565 +def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur." [url:http\://www.who.int/mediacentre/factsheets/fs316/en/] +subset: gram-negative_bacterial_infectious_disease +synonym: "bone and joint lesions due to yaws" EXACT [ICD9CM_2006:102.6] +synonym: "bone and joint yaws lesion" EXACT [] +synonym: "bone and joint yaws lesions (disorder)" EXACT [SNOMEDCT_2005_07_31:266147005] +synonym: "chancre of yaws" EXACT [] +synonym: "early yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:23191004] +synonym: "Frambesia, initial or primary" EXACT [MTHICD9_2006:102.0] +synonym: "Initial frambesial ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:30283007] +synonym: "Initial lesion of yaws (disorder)" EXACT [SNOMEDCT_2005_07_31:49442000] +synonym: "Initial lesions of yaws" EXACT [ICD9CM_2006:102.0] +synonym: "primary frambesia" EXACT [SNOMEDCT_2005_07_31:77912009] +xref: ICD10CM:A66.0 +xref: ICD10CM:A66.6 +xref: ICD9CM:102.0 +xref: ICD9CM:102.6 +xref: NCI:C41352 +xref: SNOMEDCT_US_2015_03_01:186969007 +xref: SNOMEDCT_US_2015_03_01:23191004 +xref: SNOMEDCT_US_2015_03_01:266147005 +xref: SNOMEDCT_US_2015_03_01:30283007 +xref: SNOMEDCT_US_2015_03_01:49442000 +xref: SNOMEDCT_US_2015_03_01:59227007 +xref: SNOMEDCT_US_2015_03_01:77912009 +xref: UMLS_CUI:C0275990 +xref: UMLS_CUI:C0275998 +xref: UMLS_CUI:C0343834 +is_a: DOID:10371 ! yaws + +[Term] +id: DOID:10569 +name: myopathy of critical illness +synonym: "Critical illness myopathy" EXACT [ICD9CM_2006:359.81] +is_obsolete: true + +[Term] +id: DOID:1057 +name: inborn amino acid transport disorder +is_obsolete: true + +[Term] +id: DOID:10573 +name: osteomalacia +def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone." [url:http\://en.wikipedia.org/wiki/Osteomalacia, url:http\://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx, url:http\://www.mayoclinic.com/health/osteomalacia/DS00935, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000376.htm, url:http\://www.umm.edu/ency/article/000376.htm, url:http\://www.wheelessonline.com/ortho/osteomalacia] +xref: ICD9CM:268.2 +xref: MSH:D010018 +xref: NCI:C26838 +xref: NCI:C96867 +xref: SNOMEDCT_US_2015_03_01:154728003 +xref: SNOMEDCT_US_2015_03_01:190639009 +xref: SNOMEDCT_US_2015_03_01:190642003 +xref: SNOMEDCT_US_2015_03_01:4598005 +xref: UMLS_CUI:C0029442 +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:10574 +name: vitamin D deficiency +synonym: "Avitaminosis D" EXACT [MTHICD9_2006:268.9] +synonym: "Avitaminosis D NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190649007] +synonym: "deficiency of vitamin D (disorder)" EXACT [SNOMEDCT_2005_07_31:124886009] +synonym: "Unspecified vitamin D deficiency" EXACT [ICD9CM_2006:268.9] +synonym: "vitamin D deficiency" EXACT [SNOMEDCT_2005_07_31:190639009] +synonym: "vitamin D deficiency" EXACT [SNOMEDCT_2005_07_31:154728003] +synonym: "vitamin D deficiency" EXACT [ICD9CM_2006:268] +synonym: "vitamin D deficiency" EXACT [CSP2005:2116-7610] +synonym: "vitamin D deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:34713006] +is_obsolete: true + +[Term] +id: DOID:10575 +name: calcium metabolism disease +xref: ICD10CM:E83.5 +xref: ICD10CM:E83.50 +xref: ICD9CM:275.4 +xref: ICD9CM:275.40 +xref: MSH:D002128 +xref: SNOMEDCT_US_2015_03_01:190863003 +xref: SNOMEDCT_US_2015_03_01:190874007 +xref: SNOMEDCT_US_2015_03_01:267442002 +xref: SNOMEDCT_US_2015_03_01:71638002 +xref: UMLS_CUI:C0006705 +is_a: DOID:0050032 ! mineral metabolism disease + +[Term] +id: DOID:10579 +name: leukodystrophy +def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain." [url:http\://en.wikipedia.org/wiki/Leukodystrophy] +xref: ICD9CM:330.0 +xref: NCI:C61253 +xref: SNOMEDCT_US_2015_03_01:192781003 +xref: SNOMEDCT_US_2015_03_01:192785007 +xref: SNOMEDCT_US_2015_03_01:5101009 +xref: UMLS_CUI:C0023520 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:1058 +name: amino acid transport disease +synonym: "Disturbances of amino-acid transport" EXACT [ICD9CM_2006:270.0] +is_obsolete: true + +[Term] +id: DOID:10581 +name: metachromatic leukodystrophy +def: "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system." [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "arylsulfatase A deficiency" EXACT [] +synonym: "deficiency of cerebroside-sulfatase" EXACT [] +synonym: "MLD" EXACT [] +synonym: "Scholz cerebral sclerosis" EXACT [SNOMEDCT_2005_07_31:44359008] +synonym: "sulfatide lipoidosis" EXACT [CSP2005:1849-5593] +xref: ICD10CM:E75.25 +xref: ICD10CM:E75.29 +xref: MSH:D007966 +xref: NCI:C61251 +xref: OMIM:249900 +xref: OMIM:250100 +xref: ORDO:512 +xref: SNOMEDCT_US_2015_03_01:192784006 +xref: SNOMEDCT_US_2015_03_01:3621006 +xref: SNOMEDCT_US_2015_03_01:396338004 +xref: SNOMEDCT_US_2015_03_01:44359008 +xref: UMLS_CUI:C0023522 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:10582 +name: Refsum disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Heredopathia atactica polyneuritiformis" EXACT [MTHICD9_2006:356.3] +synonym: "HMSN type IV" EXACT [CSP2005:2042-7949] +synonym: "HSMN IV" EXACT [SNOMEDCT_2005_07_31:25362006] +synonym: "Refsum's disease" EXACT [ICD9CM_2006:356.3] +xref: ICD10CM:G60.1 +xref: ICD9CM:356.3 +xref: MSH:D012035 +xref: NCI:C85043 +xref: OMIM:266500 +xref: OMIM:266510 +xref: SNOMEDCT_US_2015_03_01:25362006 +xref: UMLS_CUI:C0034960 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:10584 +name: retinitis pigmentosa +alt_id: DOID:14742 +def: "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." [url:http\://en.wikipedia.org/wiki/Retinitis_pigmentosa, url:http\://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +synonym: "pericentral pigmentary retinopathy" EXACT [] +synonym: "retinitis pigmentosa type 53 " EXACT [] +synonym: "retinitis pigmentosa type 59" EXACT [] +synonym: "retinitis pigmentosa-1" EXACT [] +synonym: "RP" EXACT [CSP2005:1114-9526] +xref: ICD10CM:H35.52 +xref: MSH:C538365 +xref: MSH:D012174 +xref: NCI:C85045 +xref: OMIM:120970 +xref: OMIM:180100 +xref: OMIM:180104 +xref: OMIM:180105 +xref: OMIM:180210 +xref: OMIM:268000 +xref: OMIM:268025 +xref: OMIM:268060 +xref: OMIM:300029 +xref: OMIM:300424 +xref: OMIM:300605 +xref: OMIM:312600 +xref: OMIM:312612 +xref: OMIM:400004 +xref: OMIM:600059 +xref: OMIM:600105 +xref: OMIM:600132 +xref: OMIM:600138 +xref: OMIM:600852 +xref: OMIM:601414 +xref: OMIM:601718 +xref: OMIM:602594 +xref: OMIM:602772 +xref: OMIM:603809 +xref: OMIM:606068 +xref: OMIM:607921 +xref: OMIM:608133 +xref: OMIM:608380 +xref: OMIM:609913 +xref: OMIM:609923 +xref: OMIM:610282 +xref: OMIM:610359 +xref: OMIM:610599 +xref: OMIM:611131 +xref: OMIM:612095 +xref: OMIM:612165 +xref: OMIM:612572 +xref: OMIM:612712 +xref: OMIM:612943 +xref: OMIM:613194 +xref: OMIM:613428 +xref: OMIM:613464 +xref: OMIM:613575 +xref: OMIM:613581 +xref: OMIM:613582 +xref: OMIM:613617 +xref: OMIM:613731 +xref: OMIM:613750 +xref: OMIM:613756 +xref: OMIM:613758 +xref: OMIM:613767 +xref: OMIM:613769 +xref: OMIM:613794 +xref: OMIM:613801 +xref: OMIM:613810 +xref: OMIM:613827 +xref: OMIM:613861 +xref: OMIM:613862 +xref: OMIM:613983 +xref: OMIM:614180 +xref: OMIM:614181 +xref: OMIM:614494 +xref: OMIM:615233 +xref: OMIM:615434 +xref: OMIM:615565 +xref: OMIM:615725 +xref: OMIM:615780 +xref: OMIM:615922 +xref: ORDO:791 +xref: SNOMEDCT_US_2015_03_01:155113002 +xref: SNOMEDCT_US_2015_03_01:28835009 +xref: UMLS_CUI:C0035334 +xref: UMLS_CUI:C0220701 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:10585 +name: hereditary and idiopathic peripheral neuropathy +is_obsolete: true + +[Term] +id: DOID:10587 +name: Krabbe disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "beta galactocerebrosidase deficiency" EXACT [CSP2005:1849-5536] +synonym: "Diffuse globoid body sclerosis" EXACT [SNOMEDCT_2005_07_31:189979005] +synonym: "Galactosylceramide beta-galactosidase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:192782005] +synonym: "globoid cell leukodystrophy" EXACT [] +synonym: "GLOBOID CELL LEUKOENCEPHALOPATHY" EXACT [] +synonym: "Krabbe's disease" EXACT [MTHICD9_2006:330.0] +synonym: "Krabbe's leukodystrophy" EXACT [SNOMEDCT_2005_07_31:5710006] +xref: ICD10CM:E75.23 +xref: MSH:D007965 +xref: NCI:C61254 +xref: OMIM:245200 +xref: SNOMEDCT_US_2015_03_01:189979005 +xref: SNOMEDCT_US_2015_03_01:192782005 +xref: SNOMEDCT_US_2015_03_01:5710006 +xref: UMLS_CUI:C0023521 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:10588 +name: adrenoleukodystrophy +alt_id: DOID:13451 +def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death." [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/] +comment: MSH:D000326w added from NeuroDevNet [WAK]. +synonym: "Adrenoleukodystrophy" EXACT [MSH:D000326] +synonym: "ALD" EXACT [CSP2005:4001-0003] +synonym: "Bronze Schilder disease" EXACT [] +synonym: "diffuse cerebral sclerosis of Schilder" RELATED [] +synonym: "diffuse sclerosis" EXACT [CSP2005:2042-2215] +synonym: "Encephalitis periaxialis concentrica" EXACT [SNOMEDCT_2005_07_31:44875002] +synonym: "Encephalitis periaxialis, Schilder's" EXACT [MTHICD9_2006:341.1] +synonym: "Schilder disease" EXACT [] +synonym: "Schilder's disease" RELATED [SNOMEDCT_2005_07_31:155059003] +synonym: "Siemerling-Creutzfeldt Disease" EXACT [] +synonym: "SUDANOPHILIC CEREBRAL SCLEROSIS" EXACT [] +synonym: "X-linked adrenoleukodystrophy" EXACT [MTHICD9_2006:277.86] +xref: ICD10CM:E71.52 +xref: ICD10CM:E71.529 +xref: ICD10CM:G37.0 +xref: ICD9CM:341.1 +xref: MSH:C538676 +xref: MSH:D000326 +xref: MSH:D002549 +xref: NCI:C61252 +xref: NCI:C84670 +xref: OMIM:202370 +xref: OMIM:300100 +xref: SNOMEDCT_US_2015_03_01:155059003 +xref: SNOMEDCT_US_2015_03_01:192932009 +xref: SNOMEDCT_US_2015_03_01:267702006 +xref: SNOMEDCT_US_2015_03_01:44875002 +xref: SNOMEDCT_US_2015_03_01:49692006 +xref: SNOMEDCT_US_2015_03_01:65389002 +xref: UMLS_CUI:C0007795 +xref: UMLS_CUI:C0162309 +is_a: DOID:10579 ! leukodystrophy + +[Term] +id: DOID:1059 +name: intellectual disability +def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." [url:http\://www.aamr.org/content_96.cfm?navID=20, url:http\://www.google.com/url?sa=t&source=web&cd=9&ved=0CGEQFjAI&url=http%3A%2F%2Fwww.nichcy.org%2FDisabilities%2FSpecific%2FPages%2FIntellectualDisability.aspx&rct=j&q=%20Search%20Intellectual%20Disability%3A%20Definition%2C%20Classification%2C%20and%20Systems%20of%20Supports%20&ei=_Y7dTJ-JKoX7lweUy837DA&usg=AFQjCNHf5WD4JW8kvTc901MQ6AUr_mRPpQ&sig2=sV1yzHR9plpkHZMXYtd8iA&cad=rja, url:http\://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx] +comment: OMIM mapping submitted by NeuroDevNet. [LS]. +synonym: "mental retardation" RELATED [] +synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15" EXACT [] +xref: MSH:D008607 +xref: NCI:C84392 +xref: SNOMEDCT_US_2015_03_01:154978008 +xref: SNOMEDCT_US_2015_03_01:154979000 +xref: SNOMEDCT_US_2015_03_01:1855002 +xref: SNOMEDCT_US_2015_03_01:192157003 +xref: SNOMEDCT_US_2015_03_01:192557008 +xref: SNOMEDCT_US_2015_03_01:268732001 +xref: SNOMEDCT_US_2015_03_01:91138005 +xref: UMLS_CUI:C0025362 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:10590 +name: mild pre-eclampsia +def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." [url:http\://emedicine.medscape.com/article/1476919-overview] +xref: ICD9CM:642.40 +xref: UMLS_CUI:C0156664 +is_a: DOID:10591 ! pre-eclampsia + +[Term] +id: DOID:10591 +name: pre-eclampsia +alt_id: DOID:12684 +def: "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." [PMID:24400024, url:http\://en.wikipedia.org/wiki/Pre-eclampsia, url:http\://ghr.nlm.nih.gov/condition/preeclampsia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "gestational hypertension" EXACT [MTHICD9_2006:642.3, SNOMEDCT_2005_07_31:30354006] +synonym: "hypertension induced by pregnancy" EXACT [] +synonym: "pre-eclamptic toxaemia" EXACT [SNOMEDCT_2005_07_31:46764007] +synonym: "preeclampsia" EXACT [CSP2005:4001-0110] +synonym: "preeclampsia/eclampsia" EXACT [] +synonym: "pregnancy associated hypertension" EXACT [NCI2004_11_17:C4371] +synonym: "pregnancy toxemia" EXACT [CSP2005:2404-7447] +synonym: "proteinuric hypertension of pregnancy" EXACT [SNOMEDCT_2005_07_31:199011002] +synonym: "toxaemia of pregnancy" EXACT [SNOMEDCT_2005_07_31:156106005] +xref: ICD10CM:O13 +xref: ICD10CM:O14 +xref: ICD10CM:O14.9 +xref: ICD10CM:O14.90 +xref: MSH:D011225 +xref: MSH:D046110 +xref: NCI:C34943 +xref: NCI:C4371 +xref: NCI:C85021 +xref: OMIM:189800 +xref: OMIM:609402 +xref: OMIM:609403 +xref: OMIM:609404 +xref: OMIM:614592 +xref: ORDO:275555 +xref: SNOMEDCT_US_2015_03_01:15394000 +xref: SNOMEDCT_US_2015_03_01:156106005 +xref: SNOMEDCT_US_2015_03_01:156109003 +xref: SNOMEDCT_US_2015_03_01:156112000 +xref: SNOMEDCT_US_2015_03_01:198969004 +xref: SNOMEDCT_US_2015_03_01:198972006 +xref: SNOMEDCT_US_2015_03_01:198979002 +xref: SNOMEDCT_US_2015_03_01:199011002 +xref: SNOMEDCT_US_2015_03_01:237280005 +xref: SNOMEDCT_US_2015_03_01:267306006 +xref: SNOMEDCT_US_2015_03_01:267307002 +xref: SNOMEDCT_US_2015_03_01:288201007 +xref: SNOMEDCT_US_2015_03_01:30354006 +xref: SNOMEDCT_US_2015_03_01:308551004 +xref: SNOMEDCT_US_2015_03_01:398254007 +xref: SNOMEDCT_US_2015_03_01:46764007 +xref: SNOMEDCT_US_2015_03_01:48194001 +xref: SNOMEDCT_US_2015_03_01:6758009 +xref: UMLS_CUI:C0032914 +xref: UMLS_CUI:C0340274 +is_a: DOID:10763 ! hypertension + +[Term] +id: DOID:10593 +name: idiopathic progressive polyneuropathy +synonym: "Idiopathic progressive polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:33209009] +xref: ICD9CM:356.4 +xref: SNOMEDCT_US_2015_03_01:193164007 +xref: SNOMEDCT_US_2015_03_01:33209009 +xref: UMLS_CUI:C0154756 +is_a: DOID:1389 ! polyneuropathy + +[Term] +id: DOID:10594 +name: idiopathic neuropathy +synonym: "Unspecified idiopathic peripheral neuropathy" EXACT [ICD9CM_2006:356.9] +is_obsolete: true + +[Term] +id: DOID:10595 +name: Charcot-Marie-Tooth disease +def: "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." [url:https\://www.genome.gov/11009201] +synonym: "Charcot Marie Tooth muscular atrophy" EXACT [CSP2005:2042-7637] +synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [SNOMEDCT_2005_07_31:193158000] +synonym: "Peroneal muscular atrophy" EXACT [ICD9CM_2006:356.1] +xref: ICD10CM:G60.0 +xref: ICD9CM:356.1 +xref: MSH:D002607 +xref: NCI:C75467 +xref: SNOMEDCT_US_2015_03_01:128202008 +xref: SNOMEDCT_US_2015_03_01:193158000 +xref: SNOMEDCT_US_2015_03_01:193162006 +xref: SNOMEDCT_US_2015_03_01:50548001 +xref: UMLS_CUI:C0007959 +is_a: DOID:440 ! neuromuscular disease + +[Term] +id: DOID:10597 +name: gonococcal meningitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:151004] +is_obsolete: true + +[Term] +id: DOID:106 +name: pleural tuberculosis +alt_id: DOID:12624 +def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17426219] +subset: gram-positive_bacterial_infectious_disease +synonym: "Pearly disease (disorder)" EXACT [SNOMEDCT_2005_07_31:170713008] +synonym: "Tuberculosis of Pleura" EXACT [NCI2004_11_17:C26898] +synonym: "Tuberculosis of pleura" EXACT [SNOMEDCT_2005_07_31:186183008] +synonym: "Tuberculosis of pleura" EXACT [MTHICD9_2006:012.0] +synonym: "Tuberculosis of pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:186182003] +synonym: "Tuberculosis of pleura (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:68706009] +synonym: "Tuberculous pleurisy" EXACT [ICD9CM_2006:012.0] +synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [] +synonym: "Tuberculous pleurisy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186186000] +synonym: "Tuberculous pleurisy, unspecified examination" EXACT [ICD9CM_2006:012.00] +synonym: "Tuberculous pleuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:171699006] +xref: ICD10CM:A15.6 +xref: ICD9CM:010.1 +xref: ICD9CM:012.0 +xref: ICD9CM:012.00 +xref: MSH:D014396 +xref: NCI:C26898 +xref: SNOMEDCT_US_2015_03_01:171699006 +xref: SNOMEDCT_US_2015_03_01:186172004 +xref: SNOMEDCT_US_2015_03_01:186182003 +xref: SNOMEDCT_US_2015_03_01:186183008 +xref: SNOMEDCT_US_2015_03_01:186186000 +xref: SNOMEDCT_US_2015_03_01:36379004 +xref: SNOMEDCT_US_2015_03_01:68706009 +xref: UMLS_CUI:C0041326 +xref: UMLS_CUI:C0152531 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:1060 +name: Hartnup disease +def: "An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000] +synonym: "Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009] +synonym: "neutral amino acid transport defect" EXACT [CSP2005:1849-4235] +xref: ICD10CM:E72.02 +xref: MSH:D006250 +xref: NCI:C84748 +xref: OMIM:234500 +xref: SNOMEDCT_US_2015_03_01:124208000 +xref: SNOMEDCT_US_2015_03_01:80902009 +xref: UMLS_CUI:C0018609 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:10600 +name: chronic tic disorder +def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year." [url:http\://en.wikipedia.org/wiki/Tic_disorder] +synonym: "chronic motor or vocal tic disorder" EXACT [ICD9CM_2006:307.22] +xref: ICD10CM:F95.1 +xref: ICD9CM:307.22 +xref: MSH:D013981 +xref: SNOMEDCT_US_2015_03_01:192623005 +xref: UMLS_CUI:C0008701 +is_a: DOID:2769 ! tic disorder + +[Term] +id: DOID:10602 +name: steatorrhea +synonym: "Fatty stool (finding)" EXACT [SNOMEDCT_2005_07_31:66187002] +xref: MSH:D045602 +xref: NCI:C86917 +xref: SNOMEDCT_US_2015_03_01:197489007 +xref: SNOMEDCT_US_2015_03_01:266481005 +xref: SNOMEDCT_US_2015_03_01:27868004 +xref: SNOMEDCT_US_2015_03_01:66187002 +xref: UMLS_CUI:C0038238 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10603 +name: glucose intolerance +synonym: "Glucose: [intolerance] or [malabsorption]" EXACT [SNOMEDCT_2005_07_31:190752008] +synonym: "Malabsorption of glucose (disorder)" EXACT [SNOMEDCT_2005_07_31:267426009] +xref: ICD10CM:R73.09 +xref: MSH:D018149 +xref: NCI:C34646 +xref: SNOMEDCT_US_2015_03_01:154720005 +xref: SNOMEDCT_US_2015_03_01:190752008 +xref: SNOMEDCT_US_2015_03_01:267426009 +xref: SNOMEDCT_US_2015_03_01:9414007 +xref: UMLS_CUI:C0271650 +is_a: DOID:4195 ! hyperglycemia + +[Term] +id: DOID:10604 +name: lactose intolerance +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "LM - Lactose malabsorption" EXACT [SNOMEDCT_2005_07_31:190757002] +xref: ICD10CM:E73 +xref: ICD10CM:E73.9 +xref: MSH:D007787 +xref: NCI:C3154 +xref: OMIM:223100 +xref: SNOMEDCT_US_2015_03_01:154736007 +xref: SNOMEDCT_US_2015_03_01:190750000 +xref: SNOMEDCT_US_2015_03_01:190757002 +xref: SNOMEDCT_US_2015_03_01:267425008 +xref: SNOMEDCT_US_2015_03_01:267497007 +xref: SNOMEDCT_US_2015_03_01:700094005 +xref: UMLS_CUI:C0022951 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:10605 +name: short bowel syndrome +synonym: "acquired short bowel syndrome" EXACT [SNOMEDCT_2005_07_31:235724004] +synonym: "short gut syndrome" EXACT [CSP2005:0724-8009] +xref: MSH:D012778 +xref: NCI:C99059 +xref: SNOMEDCT_US_2015_03_01:204768009 +xref: SNOMEDCT_US_2015_03_01:235724004 +xref: SNOMEDCT_US_2015_03_01:26629001 +xref: UMLS_CUI:C0036992 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10606 +name: blind loop syndrome +def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." [PMID:20572300, url:https\://en.wikipedia.org/wiki/Blind_loop_syndrome] +synonym: "Bacterial overgrowth syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:66379009] +synonym: "Blind loop syndrome" EXACT [ICD9CM_2006:579.2] +synonym: "Blind loop syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:77225009] +xref: ICD10CM:K90.2 +xref: ICD9CM:579.2 +xref: MSH:D001765 +xref: NCI:C34431 +xref: SNOMEDCT_US_2015_03_01:66379009 +xref: SNOMEDCT_US_2015_03_01:77225009 +xref: UMLS_CUI:C0005750 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10607 +name: tropical sprue +synonym: "Sprue - tropical" EXACT [SNOMEDCT_2005_07_31:266547002] +synonym: "Tropical steatorrhea" EXACT [MTHICD9_2006:579.1] +xref: ICD10CM:K90.1 +xref: ICD9CM:579.1 +xref: MSH:D013182 +xref: NCI:C45428 +xref: SNOMEDCT_US_2015_03_01:155846005 +xref: SNOMEDCT_US_2015_03_01:266547002 +xref: SNOMEDCT_US_2015_03_01:47384003 +xref: UMLS_CUI:C0038054 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10608 +name: celiac disease +def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/celiac/, url:http\://en.wikipedia.org/wiki/Coeliac_disease, url:http\://www.celiac.org/, url:http\://www.mayoclinic.com/health/celiac-disease/DS00319, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000233.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "celiac sprue" EXACT [CSP2005:1248-3893] +synonym: "coeliac disease" EXACT [SNOMEDCT_2005_07_31:155842007] +synonym: "idiopathic steatorrhea" EXACT [MTHICD9_2006:579.0] +xref: EFO:0001060 +xref: ICD10CM:K90.0 +xref: ICD9CM:579.0 +xref: MSH:D002446 +xref: NCI:C26714 +xref: OMIM:212750 +xref: OMIM:607202 +xref: OMIM:609753 +xref: OMIM:609754 +xref: OMIM:609755 +xref: OMIM:611598 +xref: OMIM:612005 +xref: OMIM:612006 +xref: OMIM:612007 +xref: OMIM:612008 +xref: OMIM:612009 +xref: OMIM:612011 +xref: OMIM:612110 +xref: ORDO:555 +xref: SNOMEDCT_US_2015_03_01:155842007 +xref: SNOMEDCT_US_2015_03_01:197477005 +xref: SNOMEDCT_US_2015_03_01:197481005 +xref: SNOMEDCT_US_2015_03_01:23829007 +xref: SNOMEDCT_US_2015_03_01:266478000 +xref: SNOMEDCT_US_2015_03_01:396331005 +xref: UMLS_CUI:C0007570 +is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract + +[Term] +id: DOID:10609 +name: rickets +alt_id: DOID:11672 +def: "A bone remodeling disease that has_material_basis_in \nimpaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone." [url:http\://emedicine.medscape.com/article/985510-overview, url:http\://en.wikipedia.org/wiki/Rickets, url:http\://www.mayoclinic.com/health/rickets/DS00813, url:http\://www.ncbi.nlm.nih.gov/pubmed/26365554, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000344.htm, url:http\://www.umm.edu/ency/article/000344.htm, url:https\://en.wikipedia.org/wiki/Rickets#Types] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "active rickets" EXACT [SNOMEDCT_2005_07_31:190640006] +synonym: "vitamin D hydroxylation-deficient rickets" EXACT [] +synonym: "vitamin D-dependent rickets" EXACT [] +xref: ICD10CM:E55.0 +xref: ICD9CM:268.0 +xref: MSH:D012279 +xref: NCI:C26878 +xref: OMIM:264700 +xref: OMIM:277440 +xref: OMIM:600081 +xref: OMIM:600785 +xref: ORDO:289157 +xref: SNOMEDCT_US_2015_03_01:154728003 +xref: SNOMEDCT_US_2015_03_01:190639009 +xref: SNOMEDCT_US_2015_03_01:190640006 +xref: SNOMEDCT_US_2015_03_01:41345002 +xref: SNOMEDCT_US_2015_03_01:68295002 +xref: UMLS_CUI:C0035579 +xref: UMLS_CUI:C0221468 +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:1061 +name: renal aminoaciduria +synonym: "inborn renal aminoaciduria" EXACT [CSP2005:1849-1462] +is_obsolete: true + +[Term] +id: DOID:10610 +name: pancreatic steatorrhea +synonym: "pancreatic steatorrhea (disorder)" EXACT [SNOMEDCT_2005_07_31:54576000] +synonym: "pancreatic steatorrhea [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:197487009] +synonym: "pancreatic steatorrhoea" EXACT [SNOMEDCT_2005_07_31:155845009] +xref: ICD10CM:K90.3 +xref: ICD9CM:579.4 +xref: SNOMEDCT_US_2015_03_01:155845009 +xref: SNOMEDCT_US_2015_03_01:197487009 +xref: SNOMEDCT_US_2015_03_01:54576000 +xref: UMLS_CUI:C0152166 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:10611 +name: protein-losing enteropathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Enteropathy, exudative" EXACT [MTHICD9_2006:579.8] +synonym: "Exudative enteropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:22542007] +synonym: "Protein-losing enteropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:66972006] +xref: MSH:D011504 +xref: OMIM:226300 +xref: SNOMEDCT_US_2015_03_01:22542007 +xref: SNOMEDCT_US_2015_03_01:66972006 +xref: UMLS_CUI:C0033680 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10612 +name: allergic urticaria +synonym: "Allergic urticaria (disorder)" EXACT [SNOMEDCT_2005_07_31:40178009] +xref: ICD10CM:L50.0 +xref: ICD9CM:708.0 +xref: SNOMEDCT_US_2015_03_01:156428000 +xref: SNOMEDCT_US_2015_03_01:201260002 +xref: SNOMEDCT_US_2015_03_01:40178009 +xref: UMLS_CUI:C0149526 +is_a: DOID:1555 ! urticaria + +[Term] +id: DOID:10615 +name: acute gonococcal cervicitis +synonym: "acute gonococcal cervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:20943002] +synonym: "acute gonorrhea of cervix" EXACT [MTHICD9_2006:098.15] +synonym: "Gonococcal cervicitis (acute)" EXACT [ICD9CM_2006:098.15] +xref: ICD9CM:098.15 +xref: SNOMEDCT_US_2015_03_01:20943002 +xref: UMLS_CUI:C0153195 +is_a: DOID:10616 ! acute cervicitis + +[Term] +id: DOID:10616 +name: acute cervicitis +synonym: "acute cervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:19272000] +xref: NCI:C27056 +xref: SNOMEDCT_US_2015_03_01:19272000 +xref: UMLS_CUI:C0269061 +is_a: DOID:2568 ! cervicitis + +[Term] +id: DOID:10619 +name: lymph node cancer +alt_id: DOID:10438 +def: "A lymphatic system cancer that is located_in the lymph node." [url:http\://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer] +subset: TopNodes_DOcancerslim +synonym: "lymph node neoplasm" EXACT [NCI2004_11_17:C35497] +xref: NCI:C35497 +xref: SNOMEDCT_US_2015_03_01:127232002 +xref: UMLS_CUI:C0596869 +is_a: DOID:0060073 ! lymphatic system cancer + +[Term] +id: DOID:1062 +name: Fanconi syndrome +alt_id: DOID:5956 +def: "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting." [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "adult Fanconi Anemia" EXACT [NCI2004_11_17:C4377] +synonym: "adult Fanconi syndrome" EXACT [] +synonym: "Congenital Fanconi syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:236466005] +synonym: "De Toni-Fanconi syndrome" EXACT [SNOMEDCT_2005_07_31:111398009] +synonym: "deToni Fanconi syndrome" EXACT [CSP2005:1849-2203] +synonym: "Fanconi-de Toni syndrome" EXACT [MTHICD9_2006:270.0] +synonym: "Fanconi-de-Toni syndrome" EXACT [SNOMEDCT_2005_07_31:190683000] +synonym: "Infantile nephropathic cystinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:62332007] +synonym: "Lignac-Fanconi syndrome" EXACT [SNOMEDCT_2005_07_31:367374009] +xref: MSH:D005198 +xref: NCI:C3034 +xref: NCI:C4377 +xref: OMIM:134600 +xref: OMIM:613388 +xref: OMIM:615605 +xref: ORDO:3337 +xref: SNOMEDCT_US_2015_03_01:236468006 +xref: SNOMEDCT_US_2015_03_01:40488004 +xref: SNOMEDCT_US_2015_03_01:44673006 +xref: UMLS_CUI:C0015624 +xref: UMLS_CUI:C0341703 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:10621 +name: Fissure of nipple associated with childbirth +is_obsolete: true + +[Term] +id: DOID:10626 +name: insulin dependent type diabetes mellitus uncontrolled with ketoacidosis +synonym: "Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis" EXACT [MTHICD9_2006:250.13] +synonym: "type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis" EXACT [ICD9CM_2006:250.13] +is_obsolete: true + +[Term] +id: DOID:10627 +name: primary optic atrophy +synonym: "primary optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:21098003] +xref: ICD10CM:H47.21 +xref: ICD9CM:377.11 +xref: SNOMEDCT_US_2015_03_01:21098003 +xref: UMLS_CUI:C0155291 +is_a: DOID:5723 ! optic atrophy + +[Term] +id: DOID:10629 +name: microphthalmia +alt_id: DOID:10650 +def: "An eye disease where one or both eyeballs are abnormally small." [url:http\://en.wikipedia.org/wiki/Microphthalmia, url:http\://ghr.nlm.nih.gov/condition/microphthalmia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "microphthalmos" EXACT [] +synonym: "nanophthalmia" EXACT [] +synonym: "nanophthalmos" EXACT [] +synonym: "simple microphthalmos" EXACT [] +xref: ICD10CM:Q11.2 +xref: ICD9CM:743.1 +xref: ICD9CM:743.10 +xref: ICD9CM:743.11 +xref: MSH:D008850 +xref: NCI:C98989 +xref: OMIM:206900 +xref: OMIM:300166 +xref: OMIM:309801 +xref: OMIM:600165 +xref: OMIM:601186 +xref: OMIM:607932 +xref: OMIM:609549 +xref: OMIM:610093 +xref: OMIM:610125 +xref: OMIM:611038 +xref: OMIM:611040 +xref: OMIM:611897 +xref: OMIM:613094 +xref: OMIM:613704 +xref: OMIM:615972 +xref: ORDO:35612 +xref: SNOMEDCT_US_2015_03_01:156902006 +xref: SNOMEDCT_US_2015_03_01:204104003 +xref: SNOMEDCT_US_2015_03_01:204107005 +xref: SNOMEDCT_US_2015_03_01:204108000 +xref: SNOMEDCT_US_2015_03_01:204110003 +xref: SNOMEDCT_US_2015_03_01:268310007 +xref: SNOMEDCT_US_2015_03_01:61142002 +xref: UMLS_CUI:C0026010 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:1063 +name: interstitial nephritis +synonym: "renal tubulo-interstitial disease" EXACT [SNOMEDCT_2005_07_31:198506002] +xref: ICD10CM:N10-N16 +xref: ICD10CM:N12 +xref: ICD10CM:N15.9 +xref: MSH:D009395 +xref: NCI:C26834 +xref: SNOMEDCT_US_2015_03_01:198506002 +xref: SNOMEDCT_US_2015_03_01:264536006 +xref: SNOMEDCT_US_2015_03_01:28689008 +xref: UMLS_CUI:C0027707 +is_a: DOID:10952 ! nephritis + +[Term] +id: DOID:10630 +name: optic atrophy associated with retinal dystrophy +synonym: "optic atrophy associated with retinal dystrophies" EXACT [ICD9CM_2006:377.13] +synonym: "optic atrophy associated with retinal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:19448008] +is_obsolete: true + +[Term] +id: DOID:10631 +name: partial optic atrophy +synonym: "Partial optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:111527005] +xref: ICD9CM:377.15 +xref: SNOMEDCT_US_2015_03_01:111527005 +xref: SNOMEDCT_US_2015_03_01:194044005 +xref: UMLS_CUI:C0155295 +is_a: DOID:5723 ! optic atrophy + +[Term] +id: DOID:10632 +name: Wolfram syndrome +def: "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1)." [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome, url:http\://omim.org/entry/222300] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)" EXACT [SNOMEDCT_2005_07_31:70694009] +synonym: "DIDMOAD" EXACT [] +xref: MSH:D014929 +xref: NCI:C35133 +xref: OMIM:222300 +xref: OMIM:604928 +xref: SNOMEDCT_US_2015_03_01:70694009 +xref: UMLS_CUI:C0043207 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:1064 +name: cystinosis +def: "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17." [PMID:12110740, url:http\://ghr.nlm.nih.gov/condition/cystinosis, url:https\://en.wikipedia.org/wiki/Cystinosis] +synonym: "Cystine storage disease" EXACT [SNOMEDCT_2005_07_31:190683000] +synonym: "cystine storage disease" EXACT [CSP2005:1849-0607] +synonym: "Cystinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:190681003] +synonym: "Cystinosis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:111398009] +synonym: "Cystinosis [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:367374009] +xref: ICD10CM:E72.04 +xref: MSH:D003554 +xref: NCI:C2976 +xref: OMIM:219750 +xref: OMIM:219800 +xref: OMIM:219990 +xref: ORDO:213 +xref: SNOMEDCT_US_2015_03_01:111398009 +xref: SNOMEDCT_US_2015_03_01:190681003 +xref: SNOMEDCT_US_2015_03_01:190683000 +xref: SNOMEDCT_US_2015_03_01:367374009 +xref: SNOMEDCT_US_2015_03_01:62332007 +xref: UMLS_CUI:C2931187 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:10645 +name: chronic state latent schizophrenia with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:10646 +name: schizotypal personality disorder +def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs." [url:http\://en.wikipedia.org/wiki/Schizotypal_personality_disorder] +xref: ICD10CM:F21 +xref: ICD9CM:301.22 +xref: MSH:D012569 +xref: NCI:C92632 +xref: SNOMEDCT_US_2015_03_01:231486008 +xref: SNOMEDCT_US_2015_03_01:31027006 +xref: UMLS_CUI:C0036363 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10648 +name: acute inferoposterior infarction +xref: ICD9CM:410.30 +xref: UMLS_CUI:C0155640 +is_a: DOID:9408 ! acute myocardial infarction + +[Term] +id: DOID:10649 +name: acute inferolateral myocardial infarction +xref: ICD9CM:410.20 +xref: UMLS_CUI:C0155636 +is_a: DOID:9408 ! acute myocardial infarction + +[Term] +id: DOID:10651 +name: acute anterolateral myocardial infarction +xref: ICD9CM:410.0 +xref: SNOMEDCT_US_2015_03_01:70211005 +xref: UMLS_CUI:C0155627 +is_a: DOID:9408 ! acute myocardial infarction + +[Term] +id: DOID:10652 +name: Alzheimer's disease +def: "A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Alzheimer%27s_disease, url:http\://www.merriam-webster.com/medical/alzheimer%27s%20disease, url:http\://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "AD" EXACT [CSP2005:0485-6737] +synonym: "Alzheimer disease" EXACT [] +synonym: "Alzheimer disease, familial" RELATED [MSH:C536597] +synonym: "Alzheimers dementia" EXACT [NCI2004_11_17:C2866] +xref: EFO:0000249 +xref: ICD10CM:G30 +xref: ICD10CM:G30.9 +xref: ICD9CM:331.0 +xref: KEGG:05010 +xref: MSH:D000544 +xref: NCI:C2866 +xref: OMIM:104300 +xref: OMIM:104310 +xref: OMIM:300756 +xref: OMIM:502500 +xref: OMIM:602096 +xref: OMIM:604154 +xref: OMIM:605526 +xref: OMIM:606187 +xref: OMIM:606889 +xref: OMIM:607116 +xref: OMIM:607822 +xref: OMIM:608907 +xref: OMIM:609636 +xref: OMIM:609790 +xref: OMIM:611073 +xref: OMIM:611152 +xref: OMIM:611154 +xref: OMIM:611155 +xref: OMIM:615080 +xref: OMIM:615590 +xref: OMIM:615711 +xref: SNOMEDCT_US_2015_03_01:154998003 +xref: SNOMEDCT_US_2015_03_01:267688001 +xref: SNOMEDCT_US_2015_03_01:26929004 +xref: SNOMEDCT_US_2015_03_01:73768007 +xref: UMLS_CUI:C0002395 +is_a: DOID:680 ! tauopathy + +[Term] +id: DOID:10655 +name: lipoma of colon +synonym: "Colonic Lipoma" EXACT [NCI2004_11_17:C5493] +xref: NCI:C5493 +xref: UMLS_CUI:C0940607 +is_a: DOID:6460 ! large intestine lipoma + +[Term] +id: DOID:10656 +name: colon leiomyoma +synonym: "Colonic leiomyoma" EXACT [NCI2004_11_17:C5492] +xref: NCI:C5492 +xref: UMLS_CUI:C1333092 +is_a: DOID:5143 ! large bowel leiomyoma + +[Term] +id: DOID:10657 +name: colonic lymphangioma +synonym: "Colonic Lymphangioma" EXACT [NCI2004_11_17:C5500] +synonym: "Lymphangioma of colon" EXACT [] +xref: NCI:C5500 +xref: UMLS_CUI:C1333094 +is_a: DOID:235 ! colonic benign neoplasm + +[Term] +id: DOID:10659 +name: colonic ganglioneuroma +is_obsolete: true + +[Term] +id: DOID:1066 +name: residual stage of open angle glaucoma +synonym: "Open-angle glaucoma residual stage (disorder)" EXACT [SNOMEDCT_2005_07_31:193542007] +synonym: "Residual stage of open angle glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:66990007] +xref: ICD10CM:H40.15 +xref: ICD9CM:365.15 +xref: SNOMEDCT_US_2015_03_01:193542007 +xref: SNOMEDCT_US_2015_03_01:66990007 +xref: UMLS_CUI:C0154944 +is_a: DOID:1067 ! open-angle glaucoma + +[Term] +id: DOID:10660 +name: mediastinum neuroblastoma +def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells." [url:http\://www.cancer.gov/dictionary?CdrID=45418] +subset: DO_cancer_slim +synonym: "neuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6628] +xref: NCI:C6628 +xref: UMLS_CUI:C1334673 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm + +[Term] +id: DOID:10661 +name: mediastinum ganglioneuroblastoma +synonym: "Ganglioneuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6627] +xref: NCI:C6627 +xref: UMLS_CUI:C1334653 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm + +[Term] +id: DOID:1067 +name: open-angle glaucoma +def: "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage." [url:http\://en.wikipedia.org/wiki/Glaucoma, url:http\://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "glaucoma simplex" EXACT [SNOMEDCT_2005_07_31:111513000] +synonym: "open angle glaucoma" EXACT [NCI2004_11_17:C34641] +synonym: "pigmentary glaucoma" EXACT [ICD9CM_2006:365.13, SNOMEDCT_2005_07_31:193539001] +synonym: "Wide-angle glaucoma NOS" EXACT [MTHICD9_2006:365.10] +xref: EFO:0004190 +xref: ICD10CM:H40.1 +xref: ICD10CM:H40.10 +xref: ICD10CM:H40.13 +xref: ICD9CM:365.1 +xref: ICD9CM:365.10 +xref: ICD9CM:365.13 +xref: MSH:D005902 +xref: NCI:C34641 +xref: OMIM:137750 +xref: OMIM:177700 +xref: OMIM:601682 +xref: OMIM:602429 +xref: OMIM:603383 +xref: OMIM:606689 +xref: OMIM:608695 +xref: OMIM:608696 +xref: OMIM:609745 +xref: OMIM:609887 +xref: OMIM:610535 +xref: OMIM:611274 +xref: OMIM:611276 +xref: OMIM:613100 +xref: SNOMEDCT_US_2015_03_01:111513000 +xref: SNOMEDCT_US_2015_03_01:193538009 +xref: SNOMEDCT_US_2015_03_01:193539001 +xref: SNOMEDCT_US_2015_03_01:193543002 +xref: SNOMEDCT_US_2015_03_01:46168003 +xref: SNOMEDCT_US_2015_03_01:84494001 +xref: UMLS_CUI:C0017612 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:1068 +name: juvenile glaucoma +synonym: "Glaucoma of childhood" EXACT [ICD9CM_2006:365.14] +synonym: "Glaucoma of childhood" EXACT [SNOMEDCT_2005_07_31:193541000] +synonym: "Glaucoma of childhood (disorder)" EXACT [SNOMEDCT_2005_07_31:71111008] +is_a: DOID:1067 ! open-angle glaucoma + +[Term] +id: DOID:10685 +name: separation anxiety disorder +def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place." [url:http\://en.wikipedia.org/wiki/Separation_anxiety_disorder] +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:10686 +name: lactocele +synonym: "Galactocele" EXACT [NCI2004_11_17:C3515] +synonym: "Galactocele" EXACT [ICD9CM_2006:611.5] +synonym: "Lactocele (disorder)" EXACT [SNOMEDCT_2005_07_31:42385006] +xref: ICD10CM:N64.89 +xref: ICD9CM:611.5 +xref: MSH:C535998 +xref: NCI:C3515 +xref: SNOMEDCT_US_2015_03_01:155966000 +xref: SNOMEDCT_US_2015_03_01:266647006 +xref: SNOMEDCT_US_2015_03_01:42385006 +xref: UMLS_CUI:C0152243 +is_a: DOID:10350 ! breast cyst + +[Term] +id: DOID:10688 +name: hypertrophy of breast +synonym: "breasts enlarged" EXACT [SNOMEDCT_2005_07_31:43336006] +synonym: "large breast" EXACT [SNOMEDCT_2005_07_31:248809000] +xref: ICD10CM:N62 +xref: ICD9CM:611.1 +xref: NCI:C3125 +xref: SNOMEDCT_US_2015_03_01:155963008 +xref: SNOMEDCT_US_2015_03_01:198114003 +xref: SNOMEDCT_US_2015_03_01:266646002 +xref: SNOMEDCT_US_2015_03_01:372281005 +xref: SNOMEDCT_US_2015_03_01:43336006 +xref: UMLS_CUI:C0020565 +is_a: DOID:3463 ! breast disease + +[Term] +id: DOID:10689 +name: galactorrhea not associated with childbirth +synonym: "GALACTORRHEA" EXACT [MTH:NOCODE] +synonym: "Galactorrhea due to non-obstetric cause (disorder)" EXACT [SNOMEDCT_2005_07_31:198115002] +synonym: "Galactorrhea not associated with childbirth (disorder)" EXACT [SNOMEDCT_2005_07_31:78622004] +synonym: "Galactorrhoea" EXACT [SNOMEDCT_2005_07_31:155965001] +is_obsolete: true + +[Term] +id: DOID:10690 +name: mastitis +synonym: "breast inflammation NOS" EXACT [SNOMEDCT_2005_07_31:155955007] +synonym: "breast inflammation NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266644004] +synonym: "Inflammatory breast disease" EXACT [SNOMEDCT_2005_07_31:198099006] +synonym: "Inflammatory disease of breast" EXACT [ICD9CM_2006:611.0] +synonym: "Inflammatory disorder of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:266579006] +xref: MSH:D008413 +xref: SNOMEDCT_US_2015_03_01:155952005 +xref: SNOMEDCT_US_2015_03_01:155955007 +xref: SNOMEDCT_US_2015_03_01:198099006 +xref: SNOMEDCT_US_2015_03_01:266641007 +xref: SNOMEDCT_US_2015_03_01:266644004 +xref: SNOMEDCT_US_2015_03_01:45198002 +xref: UMLS_CUI:C0024894 +is_a: DOID:3463 ! breast disease + +[Term] +id: DOID:10691 +name: fat necrosis of breast +synonym: "breast Fat necrosis" EXACT [NCI2004_11_17:C3661] +synonym: "Fat necrosis of breast" EXACT [ICD9CM_2006:611.3] +synonym: "Fat necrosis of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:21381006] +xref: ICD10CM:N64.1 +xref: ICD9CM:611.3 +xref: NCI:C3661 +xref: SNOMEDCT_US_2015_03_01:21381006 +xref: UMLS_CUI:C0156321 +is_a: DOID:3463 ! breast disease + +[Term] +id: DOID:10697 +name: chronic endophthalmitis +synonym: "chronic endophthalmitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13978000] +xref: ICD9CM:360.03 +xref: SNOMEDCT_US_2015_03_01:13978000 +xref: SNOMEDCT_US_2015_03_01:193269007 +xref: UMLS_CUI:C0154774 +is_a: DOID:9724 ! purulent endophthalmitis + +[Term] +id: DOID:10699 +name: paragonimiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm] +synonym: "Infection by Paragonimus (disorder)" EXACT [SNOMEDCT_2005_07_31:30369007] +synonym: "lung fluke disease" EXACT [MTHICD9_2006:121.2] +synonym: "lung fluke infection" EXACT [SNOMEDCT_2005_07_31:240807004] +synonym: "pulmonary paragonimiasis" EXACT [SNOMEDCT_2005_07_31:240808009] +xref: ICD10CM:B66.4 +xref: ICD9CM:121.2 +xref: MSH:D010237 +xref: NCI:C84995 +xref: SNOMEDCT_US_2015_03_01:240807004 +xref: SNOMEDCT_US_2015_03_01:240808009 +xref: SNOMEDCT_US_2015_03_01:30369007 +xref: UMLS_CUI:C0030424 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:1070 +name: primary open angle glaucoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "chronic simple glaucoma" EXACT [] +xref: ICD10CM:H40.11 +xref: ICD9CM:365.11 +xref: MSH:C562750 +xref: NCI:C35394 +xref: OMIM:137760 +xref: SNOMEDCT_US_2015_03_01:155122001 +xref: SNOMEDCT_US_2015_03_01:77075001 +xref: UMLS_CUI:C0339573 +is_a: DOID:1067 ! open-angle glaucoma + +[Term] +id: DOID:10708 +name: passive-aggressive personality disorder +synonym: "Passive-aggressive personality" EXACT [ICD9CM_2006:301.84] +synonym: "passive-aggressive personality disorder" RELATED [] +is_obsolete: true + +[Term] +id: DOID:10717 +name: meningococcal septicemia +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal septicaemia" EXACT [SNOMEDCT_2005_07_31:154308000] +synonym: "Meningococcemia" EXACT [ICD9CM_2006:036.2] +synonym: "Meningococcemia (disorder)" EXACT [SNOMEDCT_2005_07_31:4089001] +synonym: "Meningococcemia, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187326004] +is_obsolete: true + +[Term] +id: DOID:10718 +name: giardiasis +def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." [url:http\://en.wikipedia.org/wiki/Giardiasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm] +synonym: "beaver feaver" EXACT [] +synonym: "Infection by Giardia lamblia" EXACT [MTHICD9_2006:007.1] +xref: ICD10CM:A07.1 +xref: ICD9CM:007.1 +xref: MSH:D005873 +xref: SNOMEDCT_US_2015_03_01:10679007 +xref: SNOMEDCT_US_2015_03_01:154275004 +xref: SNOMEDCT_US_2015_03_01:186124000 +xref: SNOMEDCT_US_2015_03_01:266075009 +xref: SNOMEDCT_US_2015_03_01:266176008 +xref: SNOMEDCT_US_2015_03_01:58265007 +xref: UMLS_CUI:C0017536 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:10719 +name: toxic diffuse goiter +xref: ICD9CM:242.00 +xref: UMLS_CUI:C0154138 +is_a: DOID:7998 ! hyperthyroidism + +[Term] +id: DOID:1073 +name: renal hypertension +xref: MSH:D006977 +xref: NCI:C3121 +xref: SNOMEDCT_US_2015_03_01:194775007 +xref: SNOMEDCT_US_2015_03_01:28119000 +xref: UMLS_CUI:C0020544 +is_a: DOID:11130 ! secondary hypertension + +[Term] +id: DOID:10731 +name: nodular lung tuberculosis +def: "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:1074 +name: kidney failure +def: "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood." [url:http\://en.wikipedia.org/wiki/Renal_failure, url:http\://www.nlm.nih.gov/medlineplus/kidneyfailure.html] +comment: PRISM. +synonym: "renal failure" EXACT [SNOMEDCT_2005_07_31:198524000] +xref: ICD10CM:N19 +xref: ICD9CM:586 +xref: MSH:D051437 +xref: NCI:C4376 +xref: SNOMEDCT_US_2015_03_01:156092003 +xref: SNOMEDCT_US_2015_03_01:197656003 +xref: SNOMEDCT_US_2015_03_01:198524000 +xref: SNOMEDCT_US_2015_03_01:266553002 +xref: SNOMEDCT_US_2015_03_01:266616000 +xref: SNOMEDCT_US_2015_03_01:42399005 +xref: UMLS_CUI:C0035078 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:10742 +name: cerebral lipidosis +synonym: "Cerebral lipidoses NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192789001] +synonym: "Cerebral lipidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:16517004] +xref: ICD9CM:330.1 +xref: SNOMEDCT_US_2015_03_01:16517004 +xref: SNOMEDCT_US_2015_03_01:192786008 +xref: SNOMEDCT_US_2015_03_01:192789001 +xref: UMLS_CUI:C0007788 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:10744 +name: broad ligament malignant neoplasm +synonym: "malignant neoplasm of broad ligament of uterus" EXACT [ICD9CM_2006:183.3] +xref: ICD10CM:C57.1 +xref: ICD9CM:183.3 +xref: SNOMEDCT_US_2015_03_01:188202001 +xref: SNOMEDCT_US_2015_03_01:449259009 +xref: SNOMEDCT_US_2015_03_01:93728003 +xref: UMLS_CUI:C0346866 +is_a: DOID:11747 ! uterine adnexa cancer + +[Term] +id: DOID:10747 +name: lymphoid leukemia +synonym: "subacute lymphoid leukemia" EXACT [] +xref: ICD9CM:204.2 +xref: SNOMEDCT_US_2015_03_01:154590001 +xref: SNOMEDCT_US_2015_03_01:188726003 +xref: SNOMEDCT_US_2015_03_01:190035004 +xref: SNOMEDCT_US_2015_03_01:33560006 +xref: SNOMEDCT_US_2015_03_01:95274002 +xref: UMLS_CUI:C0152271 +is_a: DOID:1037 ! lymphoblastic leukemia + +[Term] +id: DOID:1075 +name: chronic pyelonephritis with lesion of renal medullary necrosis +is_obsolete: true + +[Term] +id: DOID:10754 +name: otitis media +def: "A otitis which involves inflammation of the middle ear." [url:http\://en.wikipedia.org/wiki/Otitis_media] +xref: ICD10CM:H66.9 +xref: ICD10CM:H66.90 +xref: ICD9CM:382.9 +xref: MSH:D010033 +xref: NCI:C34885 +xref: SNOMEDCT_US_2015_03_01:155222006 +xref: SNOMEDCT_US_2015_03_01:194291009 +xref: SNOMEDCT_US_2015_03_01:267669008 +xref: SNOMEDCT_US_2015_03_01:65363002 +xref: UMLS_CUI:C0029882 +is_a: DOID:5100 ! middle ear disease + +[Term] +id: DOID:10755 +name: petrositis +alt_id: DOID:14013 +alt_id: DOID:14014 +def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone." [url:http\://medical-dictionary.thefreedictionary.com/petrositis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001254.htm] +synonym: "acute petrositis" EXACT [] +synonym: "chronic petrositis" EXACT [] +synonym: "inflammation of petrous bone" RELATED [] +xref: ICD10CM:H70.2 +xref: ICD10CM:H70.20 +xref: ICD10CM:H70.209 +xref: ICD10CM:H70.21 +xref: ICD10CM:H70.219 +xref: ICD10CM:H70.22 +xref: ICD10CM:H70.229 +xref: ICD9CM:383.2 +xref: ICD9CM:383.20 +xref: ICD9CM:383.21 +xref: ICD9CM:383.22 +xref: MSH:D059270 +xref: SNOMEDCT_US_2015_03_01:155233009 +xref: SNOMEDCT_US_2015_03_01:194300003 +xref: SNOMEDCT_US_2015_03_01:194301004 +xref: SNOMEDCT_US_2015_03_01:267760001 +xref: SNOMEDCT_US_2015_03_01:28593007 +xref: SNOMEDCT_US_2015_03_01:34997001 +xref: SNOMEDCT_US_2015_03_01:51211002 +xref: UMLS_CUI:C0155448 +xref: UMLS_CUI:C0155449 +xref: UMLS_CUI:C0155450 +is_a: DOID:1019 ! osteomyelitis + +[Term] +id: DOID:1076 +name: chronic pyelonephritis +xref: ICD10CM:N11 +xref: ICD10CM:N11.9 +xref: ICD9CM:590.0 +xref: SNOMEDCT_US_2015_03_01:123293005 +xref: SNOMEDCT_US_2015_03_01:155861006 +xref: SNOMEDCT_US_2015_03_01:197767009 +xref: SNOMEDCT_US_2015_03_01:266619007 +xref: SNOMEDCT_US_2015_03_01:63302006 +xref: UMLS_CUI:C0085697 +is_a: DOID:11400 ! pyelonephritis + +[Term] +id: DOID:10760 +name: choroidal rupture +synonym: "Choroidal rupture (disorder)" EXACT [SNOMEDCT_2005_07_31:2532009] +is_obsolete: true + +[Term] +id: DOID:10762 +name: portal hypertension +xref: ICD10CM:K76.6 +xref: ICD9CM:572.3 +xref: MSH:D006975 +xref: NCI:C3119 +xref: SNOMEDCT_US_2015_03_01:155821005 +xref: SNOMEDCT_US_2015_03_01:34742003 +xref: UMLS_CUI:C0020541 +is_a: DOID:272 ! hepatic vascular disease + +[Term] +id: DOID:10763 +name: hypertension +def: "An artery disease characterized by chronic elevated blood pressure in the arteries." [PMID:24352797, url:https\://en.wikipedia.org/wiki/Hypertension] +synonym: "High blood pressure (& [essential hypertension])" EXACT [SNOMEDCT_2005_07_31:194757006] +synonym: "HTN" EXACT [CSP2005:0571-5243] +synonym: "hyperpiesia" EXACT [CSP2005:4003-0017] +synonym: "hypertensive disease" RELATED [MTH:NOCODE] +synonym: "vascular hypertensive disorder" EXACT [NCI2004_11_17:C3117] +xref: EFO:0000537 +xref: ICD10CM:I10 +xref: ICD10CM:I10-I15 +xref: ICD9CM:401-405.99 +xref: ICD9CM:997.91 +xref: MSH:D006973 +xref: NCI:C3117 +xref: SNOMEDCT_US_2015_03_01:155295004 +xref: SNOMEDCT_US_2015_03_01:155302005 +xref: SNOMEDCT_US_2015_03_01:194756002 +xref: SNOMEDCT_US_2015_03_01:194757006 +xref: SNOMEDCT_US_2015_03_01:194760004 +xref: SNOMEDCT_US_2015_03_01:194794002 +xref: SNOMEDCT_US_2015_03_01:195537001 +xref: SNOMEDCT_US_2015_03_01:266287006 +xref: SNOMEDCT_US_2015_03_01:38341003 +xref: UMLS_CUI:C0020538 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:10764 +name: liver abscess and sequelae of chronic liver disease +is_obsolete: true + +[Term] +id: DOID:1077 +name: Spirurida infectious disease +alt_id: DOID:11679 +def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida." [url:http\://en.wikipedia.org/wiki/Spirurida] +synonym: "filarial infectious disease and dracontiasis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10772 +name: thrombotic thrombocytopenic purpura +synonym: "Moschcowitz's syndrome" EXACT [MTHICD9_2006:446.6] +xref: ICD10CM:M31.1 +xref: MSH:D011697 +xref: NCI:C78797 +xref: SNOMEDCT_US_2015_03_01:155443009 +xref: SNOMEDCT_US_2015_03_01:195358008 +xref: SNOMEDCT_US_2015_03_01:195359000 +xref: SNOMEDCT_US_2015_03_01:360402008 +xref: SNOMEDCT_US_2015_03_01:78129009 +xref: UMLS_CUI:C0034155 +is_a: DOID:2452 ! thrombophilia + +[Term] +id: DOID:10773 +name: bubonic plague +def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration." [url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Black death" EXACT [SNOMEDCT_2005_07_31:58750007] +synonym: "black death" EXACT [CSP2005:0368-3331] +synonym: "Bubonic plague" EXACT [ICD9CM_2006:020.0] +synonym: "Bubonic plague (disorder)" EXACT [SNOMEDCT_2005_07_31:50797007] +xref: ICD10CM:A20.0 +xref: ICD9CM:020.0 +xref: MSH:D010930 +xref: SNOMEDCT_US_2015_03_01:50797007 +xref: SNOMEDCT_US_2015_03_01:58750007 +xref: UMLS_CUI:C0282312 +is_a: DOID:3482 ! plague + +[Term] +id: DOID:10774 +name: cutaneous plague +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "cellulocutaneous plague" EXACT [ICD9CM_2006:020.1] +synonym: "cellulocutaneous plague (disorder)" EXACT [SNOMEDCT_2005_07_31:43484003] +is_obsolete: true + +[Term] +id: DOID:10778 +name: fiedler's myocarditis +synonym: "fiedler myocarditis" EXACT [] +synonym: "Idiopathic myocarditis" EXACT [ICD9CM_2006:422.91] +synonym: "Isolated (Fiedler's) myocarditis" EXACT [SNOMEDCT_2005_07_31:194954007] +xref: ICD10CM:I40.1 +xref: ICD9CM:422.91 +xref: SNOMEDCT_US_2015_03_01:194954007 +xref: SNOMEDCT_US_2015_03_01:194955008 +xref: SNOMEDCT_US_2015_03_01:266238009 +xref: SNOMEDCT_US_2015_03_01:91025000 +xref: UMLS_CUI:C0155689 +is_a: DOID:3951 ! acute myocarditis + +[Term] +id: DOID:10779 +name: septic myocarditis +synonym: "Septic myocarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194959002] +synonym: "Septic myocarditis, NOS" EXACT [SNOMEDCT_2005_07_31:64043005] +xref: ICD10CM:I40.0 +xref: ICD9CM:422.92 +xref: SNOMEDCT_US_2015_03_01:194959002 +xref: SNOMEDCT_US_2015_03_01:64043005 +xref: UMLS_CUI:C0155690 +is_a: DOID:3951 ! acute myocarditis + +[Term] +id: DOID:1078 +name: Chromadorea infectious disease +alt_id: DOID:4192 +def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands." [url:http\://en.wikipedia.org/wiki/Chromadoria] +synonym: "secernentea infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10780 +name: primary polycythemia +subset: DO_MGI_slim +synonym: "familial erythrocytosis" EXACT [] +synonym: "Familiar Polycythemia" EXACT [NCI2004_11_17:C26955] +xref: ICD10CM:D75.0 +xref: ICD9CM:289.6 +xref: MSH:C536842 +xref: NCI:C26955 +xref: SNOMEDCT_US_2015_03_01:154840005 +xref: SNOMEDCT_US_2015_03_01:17342003 +xref: SNOMEDCT_US_2015_03_01:267571003 +xref: UMLS_CUI:C0152264 +is_a: DOID:8432 ! polycythemia + +[Term] +id: DOID:10782 +name: mesenteric lymphadenitis +synonym: "Mesenteric adenitis" EXACT [SNOMEDCT_2005_07_31:191376006] +synonym: "Mesenteric adenitis" EXACT [SNOMEDCT_2005_07_31:154837005] +synonym: "Mesenteric lymphadenitis" EXACT [MTHICD9_2006:289.2] +synonym: "Mesenteric lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44897000] +xref: ICD10CM:I88.0 +xref: ICD9CM:289.2 +xref: MSH:D008640 +xref: NCI:C26830 +xref: SNOMEDCT_US_2015_03_01:154837005 +xref: SNOMEDCT_US_2015_03_01:191376006 +xref: SNOMEDCT_US_2015_03_01:191378007 +xref: SNOMEDCT_US_2015_03_01:267548000 +xref: SNOMEDCT_US_2015_03_01:44897000 +xref: UMLS_CUI:C0025469 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:10783 +name: methemoglobinemia +xref: ICD10CM:D74 +xref: ICD10CM:D74.9 +xref: ICD9CM:289.7 +xref: MSH:D008708 +xref: NCI:C34817 +xref: SNOMEDCT_US_2015_03_01:124965005 +xref: SNOMEDCT_US_2015_03_01:131171006 +xref: SNOMEDCT_US_2015_03_01:191386007 +xref: SNOMEDCT_US_2015_03_01:191393006 +xref: SNOMEDCT_US_2015_03_01:267549008 +xref: SNOMEDCT_US_2015_03_01:38959009 +xref: UMLS_CUI:C0025637 +is_a: DOID:2860 ! hemoglobinopathy + +[Term] +id: DOID:10784 +name: Queensland tick typhus +alt_id: DOID:0050038 +def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Australian tick typhus " RELATED [] +synonym: "North Queensland tick typhus" RELATED [] +synonym: "Queensland tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:68981009] +synonym: "Rickettsia australis spotted fever" EXACT [] +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:10787 +name: premature menopause +synonym: "Menopause - premature" EXACT [SNOMEDCT_2005_07_31:267486007] +synonym: "Menopause - premature" EXACT [SNOMEDCT_2005_07_31:154713003] +synonym: "Menopause praecox (qualifier value)" EXACT [SNOMEDCT_2005_07_31:74296006] +synonym: "Premature menopause" EXACT [ICD9CM_2006:256.31] +synonym: "Premature menopause (finding)" EXACT [SNOMEDCT_2005_07_31:373717006] +synonym: "Premature menopause NOS" EXACT [MTHICD9_2006:256.3] +synonym: "Premature menopause NOS" EXACT [SNOMEDCT_2005_07_31:190544007] +synonym: "Premature menopause NOS (qualifier value)" EXACT [SNOMEDCT_2005_07_31:237789005] +xref: ICD10CM:E28.31 +xref: ICD10CM:E28.319 +xref: ICD9CM:256.31 +xref: MSH:D008594 +xref: NCI:C80099 +xref: SNOMEDCT_US_2015_03_01:154713003 +xref: SNOMEDCT_US_2015_03_01:190544007 +xref: SNOMEDCT_US_2015_03_01:237789005 +xref: SNOMEDCT_US_2015_03_01:267486007 +xref: SNOMEDCT_US_2015_03_01:373717006 +xref: SNOMEDCT_US_2015_03_01:74296006 +xref: UMLS_CUI:C0025322 +is_a: DOID:1414 ! ovarian dysfunction + +[Term] +id: DOID:10788 +name: osteitis condensans +synonym: "Focal sclerosing osteomyelitis" EXACT [SNOMEDCT_2005_07_31:55413008] +synonym: "Sclerosing osteitis" EXACT [SNOMEDCT_2005_07_31:54691007] +is_obsolete: true + +[Term] +id: DOID:1079 +name: setariasis +def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." [url:http\://www.jstor.org/stable/pdfplus/3277411.pdf] +subset: zoonotic_infectious_disease +synonym: "Infectious Disease by Setaria (disorder)" EXACT [SNOMEDCT_2005_07_31:4414005] +xref: MSH:D012719 +xref: SNOMEDCT_US_2015_03_01:4414005 +xref: UMLS_CUI:C0036850 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:10790 +name: chronic frontal sinusitis +def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +xref: ICD10CM:J32.1 +xref: ICD9CM:473.1 +xref: NCI:C34473 +xref: SNOMEDCT_US_2015_03_01:155527004 +xref: SNOMEDCT_US_2015_03_01:195786002 +xref: SNOMEDCT_US_2015_03_01:60130002 +xref: UMLS_CUI:C0008683 +is_a: DOID:10791 ! frontal sinusitis + +[Term] +id: DOID:10791 +name: frontal sinusitis +def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +synonym: "Frontal sinusitis" EXACT [SNOMEDCT_2005_07_31:275485006] +synonym: "Frontal sinusitis (& chronic)" EXACT [SNOMEDCT_2005_07_31:195786002] +synonym: "Frontal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:78737005] +xref: ICD10CM:J32.1 +xref: MSH:D015522 +xref: NCI:C34626 +xref: SNOMEDCT_US_2015_03_01:195786002 +xref: SNOMEDCT_US_2015_03_01:275485006 +xref: SNOMEDCT_US_2015_03_01:78737005 +xref: UMLS_CUI:C0016735 +is_a: DOID:0050127 ! sinusitis + +[Term] +id: DOID:10792 +name: chronic maxillary sinusitis +def: "A maxillary sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +synonym: "(maxillary sinusitis) or (chronic antritis)" EXACT [SNOMEDCT_2005_07_31:195785003] +synonym: "chronic antritis" EXACT [SNOMEDCT_2005_07_31:8299006] +xref: ICD10CM:J32.0 +xref: ICD9CM:473.0 +xref: NCI:C34477 +xref: SNOMEDCT_US_2015_03_01:155526008 +xref: SNOMEDCT_US_2015_03_01:195785003 +xref: SNOMEDCT_US_2015_03_01:35923002 +xref: SNOMEDCT_US_2015_03_01:8299006 +xref: UMLS_CUI:C0008698 +is_a: DOID:2051 ! maxillary sinusitis + +[Term] +id: DOID:10793 +name: chronic sphenoidal sinusitis +def: "A sphenoid sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis] +synonym: "Sphenoidal sinus-chr." EXACT [SNOMEDCT_2005_07_31:266384001] +xref: ICD10CM:J32.3 +xref: ICD9CM:473.3 +xref: NCI:C34480 +xref: SNOMEDCT_US_2015_03_01:155528009 +xref: SNOMEDCT_US_2015_03_01:266384001 +xref: SNOMEDCT_US_2015_03_01:38961000 +xref: UMLS_CUI:C0008712 +is_a: DOID:10794 ! sphenoid sinusitis + +[Term] +id: DOID:10794 +name: sphenoid sinusitis +def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." [url:http\://en.wikipedia.org/wiki/sinusitis] +synonym: "Sphenoidal sinusitis" EXACT [NCI2004_11_17:C35031] +synonym: "Sphenoidal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13266007] +xref: ICD10CM:J32.3 +xref: MSH:D015524 +xref: NCI:C35031 +xref: SNOMEDCT_US_2015_03_01:13266007 +xref: UMLS_CUI:C0037886 +is_a: DOID:0050127 ! sinusitis + +[Term] +id: DOID:10795 +name: congenital syphilitic encephalitis +subset: gram-negative_bacterial_infectious_disease +synonym: "Congenital syphilitic encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32735002] +synonym: "Encephalitis due to congenital syphilis" EXACT [SNOMEDCT_2005_07_31:192699001] +is_obsolete: true + +[Term] +id: DOID:1080 +name: filariasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea." [url:http\://en.wikipedia.org/wiki/Filariasis] +synonym: "disease due to superfamily Filarioidea (disorder)" EXACT [SNOMEDCT_2005_07_31:105706003] +xref: ICD10CM:B74 +xref: ICD10CM:B74.9 +xref: ICD9CM:125.9 +xref: MSH:D005368 +xref: NCI:C34611 +xref: SNOMEDCT_US_2015_03_01:105706003 +xref: SNOMEDCT_US_2015_03_01:187161002 +xref: SNOMEDCT_US_2015_03_01:187532008 +xref: SNOMEDCT_US_2015_03_01:50342004 +xref: UMLS_CUI:C0016085 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:10802 +name: acute gonococcal epididymo-orchitis +synonym: "acute gonococcal epididymo-orchitis (disorder)" EXACT [SNOMEDCT_2005_07_31:30168008] +synonym: "Gonococcal epididymo-orchitis (acute)" EXACT [ICD9CM_2006:098.13] +xref: ICD9CM:098.13 +xref: SNOMEDCT_US_2015_03_01:186912008 +xref: SNOMEDCT_US_2015_03_01:30168008 +xref: UMLS_CUI:C0153193 +is_a: DOID:9401 ! epididymo-orchitis + +[Term] +id: DOID:10803 +name: Haemophilus influenzae meningitis +subset: gram-negative_bacterial_infectious_disease +synonym: "Haemophilus meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192643004] +synonym: "Hemophilus meningitis" EXACT [ICD9CM_2006:320.0] +is_obsolete: true + +[Term] +id: DOID:10808 +name: gastric ulcer +alt_id: DOID:10807 +alt_id: DOID:10809 +alt_id: DOID:12047 +alt_id: DOID:12057 +alt_id: DOID:12068 +alt_id: DOID:12069 +alt_id: DOID:12806 +alt_id: DOID:13124 +alt_id: DOID:13125 +alt_id: DOID:241 +alt_id: DOID:242 +synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT [SNOMEDCT_2005_07_31:155684001] +synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT [] +synonym: "acute gastric ulcer with hemorrhage AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:46708007] +synonym: "acute gastric ulcer with hemorrhage AND perforation" EXACT [] +synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT [ICD9CM_2006:531.2] +synonym: "acute gastric ulcer with hemorrhage AND perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:48974009] +synonym: "acute gastric ulcer with hemorrhage AND perforation [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:196631003] +synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT [] +synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT [ICD9CM_2006:531.20] +synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT [] +synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:17067009] +synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT [ICD9CM_2006:531.01] +synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:53337006] +synonym: "acute gastric ulcer with perforation" EXACT [] +synonym: "acute gastric ulcer with perforation AND obstruction" EXACT [] +synonym: "acute gastric ulcer with perforation AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:43694004] +synonym: "acute gastric ulcer with perforation, with obstruction" EXACT [ICD9CM_2006:531.11] +synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT [] +synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] +synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:54053008] +synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:531.30] +synonym: "bleeding acute gastric ulcer" EXACT [] +synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT [] +synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT [] +synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:60531007] +synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT [ICD9CM_2006:531.71] +xref: ICD10CM:K25 +xref: ICD9CM:531 +xref: MSH:D013276 +xref: NCI:C3388 +xref: SNOMEDCT_US_2015_03_01:155681009 +xref: SNOMEDCT_US_2015_03_01:155690002 +xref: SNOMEDCT_US_2015_03_01:196627009 +xref: SNOMEDCT_US_2015_03_01:196642007 +xref: SNOMEDCT_US_2015_03_01:196649003 +xref: SNOMEDCT_US_2015_03_01:196650003 +xref: SNOMEDCT_US_2015_03_01:266436006 +xref: SNOMEDCT_US_2015_03_01:397825006 +xref: SNOMEDCT_US_2015_03_01:6034002 +xref: UMLS_CUI:C0038358 +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:1081 +name: mansonelliasis +def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." [url:http\://en.wikipedia.org/wiki/Mansonelliasis] +synonym: "Mansonelliasis (disorder)" EXACT [SNOMEDCT_2005_07_31:240849009] +xref: ICD10CM:B74.4 +xref: MSH:D008368 +xref: NCI:C84882 +xref: SNOMEDCT_US_2015_03_01:240849009 +xref: UMLS_CUI:C0024759 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:10810 +name: tibialis tendinitis +synonym: "Tibialis tendinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:50127006] +xref: ICD9CM:726.72 +xref: SNOMEDCT_US_2015_03_01:50127006 +xref: UMLS_CUI:C0158321 +is_a: DOID:971 ! tendinitis + +[Term] +id: DOID:10811 +name: nasal cavity cancer +def: "A respiratory system cancer that is located_in the nasal cavity." [url:http\://en.wikipedia.org/wiki/Nasal_cavity] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of nasal cavities" EXACT [ICD9CM_2006:160.0] +synonym: "malignant tumor of the nasal cavity" EXACT [NCI2004_11_17:C4918] +xref: ICD10CM:C30.0 +xref: ICD9CM:160.0 +xref: NCI:C4918 +xref: SNOMEDCT_US_2015_03_01:187832001 +xref: SNOMEDCT_US_2015_03_01:363422006 +xref: SNOMEDCT_US_2015_03_01:93917007 +xref: UMLS_CUI:C0728864 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:10812 +name: nasal cavity olfactory neuroblastoma +synonym: "Olfactory neuroblastoma of the nasal cavity" EXACT [NCI2004_11_17:C7604] +xref: NCI:C7604 +xref: UMLS_CUI:C1334923 +is_a: DOID:10811 ! nasal cavity cancer + +[Term] +id: DOID:10813 +name: nasal cavity lymphoma +synonym: "lymphoma of nasal cavity" EXACT [] +synonym: "Lymphoma of the nasal cavity" EXACT [NCI2004_11_17:C6074] +xref: NCI:C6074 +xref: UMLS_CUI:C1334921 +is_a: DOID:10811 ! nasal cavity cancer + +[Term] +id: DOID:10815 +name: recurrent duodenal cancer +synonym: "recurrent malignant Duodenal neoplasm" EXACT [NCI2004_11_17:C9263] +is_obsolete: true + +[Term] +id: DOID:10816 +name: duodenum adenocarcinoma +def: "A duodenum cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of duodenum" RELATED [] +synonym: "adenocarcinoma of duodenum (disorder)" EXACT [SNOMEDCT_2005_07_31:408644002] +synonym: "Duodenal adenocarcinoma" EXACT [NCI2004_11_17:C7889] +xref: NCI:C7889 +xref: SNOMEDCT_US_2015_03_01:408644002 +xref: UMLS_CUI:C0278804 +is_a: DOID:10021 ! duodenum cancer + +[Term] +id: DOID:10817 +name: sexual sadism +xref: ICD10CM:F65.52 +xref: ICD9CM:302.84 +xref: MSH:D012448 +xref: NCI:C94358 +xref: SNOMEDCT_US_2015_03_01:59394009 +xref: UMLS_CUI:C0036913 +is_a: DOID:0060043 ! sexual disorder + +[Term] +id: DOID:10818 +name: leptospiral meningitis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Aseptic leptospiral meningitis" EXACT [MTHICD9_2006:100.81] +synonym: "Aseptic leptospiral meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25957002] +synonym: "Leptospiral meningitis (aseptic)" EXACT [ICD9CM_2006:100.81] +synonym: "Leptospiral meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186956008] +is_obsolete: true + +[Term] +id: DOID:1082 +name: dirofilariasis +def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." [url:http\://emedicine.medscape.com/article/236698-overview] +subset: zoonotic_infectious_disease +synonym: "Dirofilaria infectious disease" EXACT [MTHICD9_2006:125.6] +synonym: "Infection by Dirofilaria (disorder)" EXACT [SNOMEDCT_2005_07_31:73328005] +xref: ICD10CM:B74.8 +xref: MSH:D004184 +xref: SNOMEDCT_US_2015_03_01:73328005 +xref: UMLS_CUI:C0012602 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:10823 +name: malignant essential hypertension +synonym: "Accelerated essential hypertension" EXACT [SNOMEDCT_2005_07_31:1218009] +synonym: "malignant Essential hypertension" EXACT [NCI2004_11_17:C34802] +synonym: "malignant essential hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:78975002] +xref: ICD9CM:401.0 +xref: NCI:C34802 +xref: SNOMEDCT_US_2015_03_01:1218009 +xref: SNOMEDCT_US_2015_03_01:78975002 +xref: UMLS_CUI:C0024588 +is_a: DOID:10824 ! malignant hypertension +is_a: DOID:10825 ! essential hypertension + +[Term] +id: DOID:10824 +name: malignant hypertension +xref: MSH:D006974 +xref: NCI:C3118 +xref: SNOMEDCT_US_2015_03_01:155301003 +xref: SNOMEDCT_US_2015_03_01:286951002 +xref: SNOMEDCT_US_2015_03_01:70272006 +xref: UMLS_CUI:C0020540 +is_a: DOID:10763 ! hypertension + +[Term] +id: DOID:10825 +name: essential hypertension +def: "A hypertension with no known cause. It is the most common type of hypertension." [url:http\://en.wikipedia.org/wiki/Essential_hypertension, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "idiopathic hypertension" EXACT [CSP2005:4003-0017] +synonym: "primary hypertension" EXACT [NCI2004_11_17:C3478] +xref: ICD10:10 +xref: ICD10CM:I10 +xref: ICD9CM:401 +xref: ICD9CM:401.9 +xref: MSH:C562386 +xref: NCI:C3478 +xref: OMIM:145500 +xref: OMIM:603918 +xref: OMIM:604329 +xref: OMIM:607329 +xref: OMIM:608742 +xref: OMIM:610261 +xref: OMIM:610262 +xref: OMIM:610948 +xref: OMIM:611014 +xref: ORDO:243761 +xref: SNOMEDCT_US_2015_03_01:155296003 +xref: SNOMEDCT_US_2015_03_01:194757006 +xref: SNOMEDCT_US_2015_03_01:194760004 +xref: SNOMEDCT_US_2015_03_01:266228004 +xref: SNOMEDCT_US_2015_03_01:59621000 +xref: UMLS_CUI:C0085580 +is_a: DOID:10763 ! hypertension + +[Term] +id: DOID:10827 +name: gender identity disorder in adolescent or adult +is_obsolete: true + +[Term] +id: DOID:10834 +name: voyeurism +xref: ICD10CM:F65.3 +xref: ICD9CM:302.82 +xref: MSH:D014843 +xref: NCI:C94360 +xref: SNOMEDCT_US_2015_03_01:192515002 +xref: SNOMEDCT_US_2015_03_01:63835008 +xref: UMLS_CUI:C0042979 +is_a: DOID:0060044 ! paraphilia disorder + +[Term] +id: DOID:10835 +name: chylocele of tunica vaginalis +synonym: "Chylocele of tunica vaginalis (disorder)" EXACT [SNOMEDCT_2005_07_31:7864001] +xref: ICD9CM:608.84 +xref: SNOMEDCT_US_2015_03_01:7864001 +xref: UMLS_CUI:C0156315 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:10836 +name: diabetes mellitus with hyperosmolarity +is_obsolete: true + +[Term] +id: DOID:10837 +name: diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled +synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled" EXACT [MTHICD9_2006:250.21] +synonym: "Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled" EXACT [ICD9CM_2006:250.21] +is_obsolete: true + +[Term] +id: DOID:10838 +name: diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled +synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled" EXACT [MTHICD9_2006:250.23] +synonym: "Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled" EXACT [ICD9CM_2006:250.23] +is_obsolete: true + +[Term] +id: DOID:10841 +name: Eastern equine encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma." [url:http\://www.cdc.gov/EasternEquineEncephalitis/index.html, url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.ncagr.gov/vet/FactSheets/EEE.htm] +subset: zoonotic_infectious_disease +synonym: "EEE" RELATED [] +synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417496004] +xref: ICD10CM:A83.2 +xref: ICD9CM:062.2 +xref: MSH:D020242 +xref: SNOMEDCT_US_2015_03_01:40177004 +xref: SNOMEDCT_US_2015_03_01:416925005 +xref: SNOMEDCT_US_2015_03_01:417496004 +xref: UMLS_CUI:C0153065 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10842 +name: Murray Valley encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness." [url:http\://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/13007862] +synonym: "Australian encephalitis" EXACT [ICD9CM_2006:062.4] +synonym: "Australian X disease" EXACT [MTHICD9_2006:062.4] +xref: ICD10CM:A83.4 +xref: ICD9CM:062.4 +xref: SNOMEDCT_US_2015_03_01:66454007 +xref: UMLS_CUI:C0153066 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10843 +name: Western equine encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] +subset: zoonotic_infectious_disease +synonym: "WEE" RELATED [] +xref: ICD10CM:A83.1 +xref: ICD9CM:062.1 +xref: MSH:D020241 +xref: NCI:C85227 +xref: SNOMEDCT_US_2015_03_01:47523006 +xref: UMLS_CUI:C0153064 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10844 +name: Japanese encephalitis +def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm] +synonym: "Japanese B encephalitis" EXACT [MTHICD9_2006:062.0] +xref: ICD10CM:A83.0 +xref: ICD9CM:062.0 +xref: MSH:D004672 +xref: NCI:C34577 +xref: SNOMEDCT_US_2015_03_01:154345006 +xref: SNOMEDCT_US_2015_03_01:266194002 +xref: SNOMEDCT_US_2015_03_01:52947006 +xref: UMLS_CUI:C0014057 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10845 +name: St. Louis encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html] +synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [SNOMEDCT_2005_07_31:417607009] +xref: ICD10CM:A83.3 +xref: ICD9CM:062.3 +xref: MSH:D004674 +xref: SNOMEDCT_US_2015_03_01:10429004 +xref: SNOMEDCT_US_2015_03_01:417192005 +xref: SNOMEDCT_US_2015_03_01:417607009 +xref: UMLS_CUI:C0014060 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10846 +name: angiodysplasia of intestine +xref: ICD9CM:569.84 +xref: SNOMEDCT_US_2015_03_01:235853006 +xref: SNOMEDCT_US_2015_03_01:32868004 +xref: UMLS_CUI:C0267367 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:10848 +name: intrauterine hypoxia and birth asphyxia +is_obsolete: true + +[Term] +id: DOID:10849 +name: sexual masochism +xref: ICD10CM:F65.51 +xref: ICD9CM:302.83 +xref: MSH:D008398 +xref: NCI:C94356 +xref: SNOMEDCT_US_2015_03_01:248104007 +xref: SNOMEDCT_US_2015_03_01:51239001 +xref: UMLS_CUI:C0036908 +is_a: DOID:0060043 ! sexual disorder + +[Term] +id: DOID:1085 +name: Edwards syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Complete trisomy 18 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:51500006] +synonym: "E3 Trisomy" EXACT [NCI2004_11_17:C36626] +synonym: "trisomy 18" EXACT [] +xref: ICD10CM:Q91.3 +xref: ICD9CM:758.2 +xref: MSH:C580500 +xref: NCI:C101362 +xref: SNOMEDCT_US_2015_03_01:157022000 +xref: SNOMEDCT_US_2015_03_01:205626006 +xref: SNOMEDCT_US_2015_03_01:254265001 +xref: SNOMEDCT_US_2015_03_01:51500006 +xref: UMLS_CUI:C0152096 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:10852 +name: middle ear cholesterol granuloma +def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum." [url:http\://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16354369] +synonym: "Cholesterin granuloma" EXACT [SNOMEDCT_2005_07_31:28371001] +synonym: "Cholesterin Granuloma of middle ear" EXACT [NCI2004_11_17:C3655] +synonym: "Cholesterin granuloma of middle ear" EXACT [ICD9CM_2006:385.82] +xref: ICD9CM:385.82 +xref: NCI:C3655 +xref: SNOMEDCT_US_2015_03_01:28371001 +xref: UMLS_CUI:C0155492 +is_a: DOID:10754 ! otitis media + +[Term] +id: DOID:10854 +name: salivary gland disease +alt_id: DOID:12898 +synonym: "Non-neoplastic Salivary gland disease" EXACT [NCI2004_11_17:C27662] +synonym: "Salivary gland disease" EXACT [] +xref: ICD9CM:527.8 +xref: UMLS_CUI:C0029773 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:1086 +name: congenital chromosomal disease +is_obsolete: true + +[Term] +id: DOID:10863 +name: paralytic squint +synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:155195008] +synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:246745004] +synonym: "Incomitant dissociation (disorder)" EXACT [SNOMEDCT_2005_07_31:12942001] +synonym: "Paralytic squint NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194120005] +synonym: "Paralytic strabismus" EXACT [ICD9CM_2006:378.5] +synonym: "Paralytic strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:400942002] +synonym: "Paralytic strabismus, unspecified" EXACT [ICD9CM_2006:378.50] +synonym: "Unspecified paralytic strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:194117002] +xref: ICD10CM:H49 +xref: ICD10CM:H49.9 +xref: ICD9CM:378.5 +xref: ICD9CM:378.50 +xref: SNOMEDCT_US_2015_03_01:12942001 +xref: SNOMEDCT_US_2015_03_01:194117002 +xref: SNOMEDCT_US_2015_03_01:194120005 +xref: SNOMEDCT_US_2015_03_01:400942002 +xref: UMLS_CUI:C0152221 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:10864 +name: partial third-nerve palsy +synonym: "Partial third nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:3171005] +synonym: "Third nerve palsy with pupil sparing" EXACT [SNOMEDCT_2005_07_31:194118007] +synonym: "Third or oculomotor nerve palsy, partial" EXACT [ICD9CM_2006:378.51] +xref: ICD9CM:378.51 +xref: MSH:D015840 +xref: SNOMEDCT_US_2015_03_01:194118007 +xref: SNOMEDCT_US_2015_03_01:3171005 +xref: SNOMEDCT_US_2015_03_01:420289002 +xref: UMLS_CUI:C0271370 +is_a: DOID:10863 ! paralytic squint + +[Term] +id: DOID:10865 +name: abducens nerve disease +synonym: "Abducens nerve disorder" EXACT [SNOMEDCT_2005_07_31:398925009] +synonym: "Abducens nerve weakness" EXACT [SNOMEDCT_2005_07_31:398963001] +synonym: "disorder of abducent nerve" EXACT [SNOMEDCT_2005_07_31:230533001] +synonym: "Lateral rectus muscle denervation paresis" EXACT [SNOMEDCT_2005_07_31:46587002] +synonym: "Lateral rectus muscle denervation paresis" EXACT [SNOMEDCT_2005_07_31:398760006] +synonym: "Lateral rectus muscle innervation disorder" EXACT [SNOMEDCT_2005_07_31:4892003] +synonym: "Sixth cranial nerve disorder, NOS" EXACT [SNOMEDCT_2005_07_31:82373004] +synonym: "Sixth nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:14720007] +synonym: "Sixth or abducens nerve palsy" EXACT [ICD9CM_2006:378.54] +synonym: "VIth nerve disorder" EXACT [NCI2004_11_17:C27593] +synonym: "VIth nerve Paralysis" EXACT [NCI2004_11_17:C27592] +xref: ICD10CM:H49.2 +xref: ICD9CM:378.54 +xref: MSH:D020434 +xref: NCI:C27592 +xref: NCI:C27593 +xref: OMIM:100200 +xref: SNOMEDCT_US_2015_03_01:14720007 +xref: SNOMEDCT_US_2015_03_01:230533001 +xref: SNOMEDCT_US_2015_03_01:398760006 +xref: SNOMEDCT_US_2015_03_01:398925009 +xref: SNOMEDCT_US_2015_03_01:398963001 +xref: SNOMEDCT_US_2015_03_01:46587002 +xref: SNOMEDCT_US_2015_03_01:4892003 +xref: SNOMEDCT_US_2015_03_01:82373004 +xref: UMLS_CUI:C0271355 +is_a: DOID:3817 ! cranial nerve palsy + +[Term] +id: DOID:10866 +name: total third-nerve palsy +synonym: "Third nerve palsy with pupil involved" EXACT [SNOMEDCT_2005_07_31:194119004] +synonym: "Third or oculomotor nerve palsy, total" EXACT [ICD9CM_2006:378.52] +synonym: "Total third nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:85522003] +xref: ICD9CM:378.52 +xref: MSH:D015840 +xref: SNOMEDCT_US_2015_03_01:194119004 +xref: SNOMEDCT_US_2015_03_01:85522003 +xref: UMLS_CUI:C0271371 +is_a: DOID:10863 ! paralytic squint + +[Term] +id: DOID:10869 +name: fourth cranial nerve palsy +synonym: "Fourth nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:20610004] +synonym: "Fourth or trochlear nerve palsy" EXACT [ICD9CM_2006:378.53] +is_a: DOID:10863 ! paralytic squint + +[Term] +id: DOID:10871 +name: age related macular degeneration +def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision." [url:http\://en.wikipedia.org/wiki/Macular_degeneration, url:http\://www.nei.nih.gov/health/maculardegen/armd_facts.asp] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "age-related macular degeneration" EXACT [] +synonym: "Senile macular degeneration" EXACT [SNOMEDCT_2005_07_31:193384000] +synonym: "Senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:302891003] +xref: EFO:0001365 +xref: ICD10CM:H35.30 +xref: ICD9CM:362.50 +xref: MSH:D008268 +xref: NCI:C84391 +xref: OMIM:153800 +xref: OMIM:603075 +xref: OMIM:608895 +xref: OMIM:610149 +xref: OMIM:610698 +xref: OMIM:611378 +xref: OMIM:611488 +xref: OMIM:611953 +xref: OMIM:613757 +xref: OMIM:613761 +xref: OMIM:613778 +xref: OMIM:613784 +xref: OMIM:615439 +xref: OMIM:615489 +xref: OMIM:615591 +xref: SNOMEDCT_US_2015_03_01:155112007 +xref: SNOMEDCT_US_2015_03_01:18222007 +xref: SNOMEDCT_US_2015_03_01:193384000 +xref: SNOMEDCT_US_2015_03_01:193385004 +xref: SNOMEDCT_US_2015_03_01:267718000 +xref: SNOMEDCT_US_2015_03_01:302891003 +xref: UMLS_CUI:C0242383 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:10873 +name: Kuhnt-Junius degeneration +synonym: "Exudative senile macular degeneration of retina" EXACT [ICD9CM_2006:362.52] +synonym: "Kuhnt-Junius degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:11290001] +synonym: "Neovascular age-related macular degeneration" EXACT [SNOMEDCT_2005_07_31:414173003] +synonym: "Senile macular degeneration, wet" EXACT [MTHICD9_2006:362.52] +synonym: "Wet senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:16018000] +xref: ICD10CM:H35.32 +xref: ICD9CM:362.52 +xref: SNOMEDCT_US_2015_03_01:11290001 +xref: SNOMEDCT_US_2015_03_01:16018000 +xref: SNOMEDCT_US_2015_03_01:414173003 +xref: UMLS_CUI:C0271084 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:10875 +name: premature labor +synonym: "LABOR PREMATURE" EXACT [MTH:NOCODE] +synonym: "Labour - premature" EXACT [SNOMEDCT_2005_07_31:156118001] +synonym: "Labour - premature" EXACT [SNOMEDCT_2005_07_31:267310009] +synonym: "premature labor" EXACT [CSP2005:2401-7840] +synonym: "Premature labor (finding)" EXACT [SNOMEDCT_2005_07_31:6383007] +synonym: "Premature labour" EXACT [SNOMEDCT_2005_07_31:156120003] +synonym: "Premature labour" EXACT [SNOMEDCT_2005_07_31:199046005] +is_obsolete: true + +[Term] +id: DOID:10877 +name: disorganized type schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:1088 +name: meningocele +synonym: "Meningocele (disorder)" EXACT [SNOMEDCT_2005_07_31:171131006] +synonym: "Meningocele [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:253121009] +synonym: "Meningocele, NOS" EXACT [SNOMEDCT_2005_07_31:32941003] +xref: MSH:D008588 +xref: SNOMEDCT_US_2015_03_01:156890007 +xref: SNOMEDCT_US_2015_03_01:171131006 +xref: SNOMEDCT_US_2015_03_01:253121009 +xref: SNOMEDCT_US_2015_03_01:268308005 +xref: SNOMEDCT_US_2015_03_01:32941003 +xref: UMLS_CUI:C0025299 +is_a: DOID:0080016 ! spina bifida + +[Term] +id: DOID:10880 +name: iliac vein thrombophlebitis +synonym: "Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195429006] +xref: ICD10CM:I80.21 +xref: ICD9CM:451.81 +xref: SNOMEDCT_US_2015_03_01:195429006 +xref: UMLS_CUI:C0155772 +is_a: DOID:3875 ! thrombophlebitis + +[Term] +id: DOID:10881 +name: hand, foot and mouth disease +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." [url:http\://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm] +synonym: "Vesicular stomatitis and exanthem" EXACT [MTHICD9_2006:074.3] +xref: ICD10CM:B08.4 +xref: ICD9CM:074.3 +xref: MSH:D006232 +xref: SNOMEDCT_US_2015_03_01:154357002 +xref: SNOMEDCT_US_2015_03_01:175497008 +xref: SNOMEDCT_US_2015_03_01:186664000 +xref: SNOMEDCT_US_2015_03_01:266108008 +xref: SNOMEDCT_US_2015_03_01:67171006 +xref: UMLS_CUI:C0018572 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10882 +name: epidemic pleurodynia +def: "A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache." [url:http\://emedicine.medscape.com/article/300049-overview] +synonym: "Bamble disease" EXACT [] +synonym: "Bornholm disease" EXACT [] +synonym: "devil's grip" EXACT [] +synonym: "epidemic myalgia" EXACT [] +synonym: "Epidemic pleurisy" EXACT [SNOMEDCT_2005_07_31:154356006] +synonym: "Epidemic, myositis" EXACT [MTHICD9_2006:074.1] +xref: ICD10CM:B33.0 +xref: ICD9CM:074.1 +xref: MSH:D011000 +xref: SNOMEDCT_US_2015_03_01:154356006 +xref: SNOMEDCT_US_2015_03_01:83264000 +xref: UMLS_CUI:C0032238 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10883 +name: herpangina +def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [url:http\://emedicine.medscape.com/article/218502-overview, url:http\://en.wikipedia.org/wiki/Herpangina, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000969.htm] +synonym: "Vesicular pharyngitis" EXACT [MTHICD9_2006:074.0] +xref: ICD10CM:B08.5 +xref: ICD9CM:074.0 +xref: MSH:D006557 +xref: SNOMEDCT_US_2015_03_01:154358007 +xref: SNOMEDCT_US_2015_03_01:186659004 +xref: SNOMEDCT_US_2015_03_01:266197009 +xref: SNOMEDCT_US_2015_03_01:274102007 +xref: SNOMEDCT_US_2015_03_01:37428001 +xref: UMLS_CUI:C0019338 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:10887 +name: lepromatous leprosy +def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217] +subset: gram-positive_bacterial_infectious_disease +synonym: "Lepromatous leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:21560005] +synonym: "Lepromatous leprosy [type L]" EXACT [ICD9CM_2006:030.0] +synonym: "type L leprosy" EXACT [MTHICD9_2006:030.0] +xref: ICD10CM:A30.5 +xref: ICD9CM:030.0 +xref: MSH:D015440 +xref: SNOMEDCT_US_2015_03_01:21560005 +xref: UMLS_CUI:C0023348 +is_a: DOID:1024 ! leprosy + +[Term] +id: DOID:1089 +name: tethered spinal cord syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "spinal dysraphism" EXACT [] +xref: ICD10CM:Q05 +xref: ICD10CM:Q05.9 +xref: ICD9CM:741 +xref: MSH:D016135 +xref: NCI:C101214 +xref: SNOMEDCT_US_2015_03_01:156888006 +xref: SNOMEDCT_US_2015_03_01:204017003 +xref: SNOMEDCT_US_2015_03_01:67531005 +xref: UMLS_CUI:C0080178 +is_a: DOID:319 ! spinal cord disease + +[Term] +id: DOID:10892 +name: hypospadias +def: "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." [url:http\://en.wikipedia.org/wiki/Hypospadias, url:http\://ghr.nlm.nih.gov/glossary=hypospadias] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "familial hypospadias" EXACT [] +xref: EFOpat_id:3299 +xref: ICD10CM:Q54 +xref: ICD10CM:Q54.9 +xref: MSH:D007021 +xref: NCI:C40341 +xref: OMIM:146450 +xref: OMIM:300633 +xref: OMIM:300758 +xref: OMIM:300856 +xref: ORDO:440 +xref: SNOMEDCT_US_2015_03_01:416010008 +xref: UMLS_CUI:C0848558 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:10901 +name: leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb +synonym: "Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb" EXACT [ICD9CM_2006:202.44] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188648000] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93147005] +is_obsolete: true + +[Term] +id: DOID:10902 +name: pulmonary actinomycosis +def: "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000074.htm] +subset: gram-positive_bacterial_infectious_disease +synonym: "pulmonary actinomycotic infection" EXACT [ICD9CM_2006:039.1] +synonym: "thoracic actinomycosis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10907 +name: microcephaly +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Microcephalus" EXACT [ICD9CM_2006:742.1] +synonym: "microencephaly" EXACT [CSP2005:0723-5649] +xref: ICD10CM:Q02 +xref: ICD9CM:742.1 +xref: MSH:D008831 +xref: NCI:C85874 +xref: OMIM:251200 +xref: OMIM:604321 +xref: OMIM:604804 +xref: OMIM:608393 +xref: OMIM:608716 +xref: OMIM:612703 +xref: SNOMEDCT_US_2015_03_01:156893009 +xref: SNOMEDCT_US_2015_03_01:1829003 +xref: SNOMEDCT_US_2015_03_01:204030002 +xref: SNOMEDCT_US_2015_03_01:204031003 +xref: UMLS_CUI:C0025958 +is_a: DOID:2490 ! congenital nervous system abnormality + +[Term] +id: DOID:10908 +name: hydrocephalus +def: "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head." [url:http\://en.wikipedia.org/wiki/Hydrocephalus, url:http\://ghr.nlm.nih.gov/glossary=hydrocephalus, url:http\://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "hydrocephalus, nonsyndromic, autosomal recessive" EXACT [OMIM:236600] +synonym: "hydrocephalus, X-linked" EXACT [MSH:C536078] +xref: ICD10CM:G91 +xref: ICD10CM:G91.9 +xref: MSH:D006849 +xref: NCI:C3111 +xref: OMIM:123155 +xref: OMIM:236600 +xref: OMIM:236635 +xref: OMIM:307000 +xref: OMIM:615219 +xref: ORDO:2182 +xref: ORDO:2185 +xref: SNOMEDCT_US_2015_03_01:154995000 +xref: SNOMEDCT_US_2015_03_01:154997008 +xref: SNOMEDCT_US_2015_03_01:192807008 +xref: SNOMEDCT_US_2015_03_01:230745008 +xref: SNOMEDCT_US_2015_03_01:267687006 +xref: UMLS_CUI:C0020255 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:1091 +name: tooth disease +synonym: "dental disorder" EXACT [CSP2005:0828-0533] +xref: MSH:D014076 +xref: NCI:C35077 +xref: SNOMEDCT_US_2015_03_01:155631000 +xref: SNOMEDCT_US_2015_03_01:234947003 +xref: SNOMEDCT_US_2015_03_01:266485001 +xref: SNOMEDCT_US_2015_03_01:367503003 +xref: SNOMEDCT_US_2015_03_01:72722003 +xref: UMLS_CUI:C0040435 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:10910 +name: echovirus meningitis +def: "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf] +is_obsolete: true + +[Term] +id: DOID:10911 +name: echovirus infectious disease +def: "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." [url:http\://en.wikipedia.org/wiki/Echovirus] +synonym: "Enteric cytopathic human orphan virus infection" RELATED [] +is_obsolete: true + +[Term] +id: DOID:10913 +name: benign essential hypertension +synonym: "benign Essential hypertension" EXACT [NCI2004_11_17:C3656] +synonym: "benign essential hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:1201005] +xref: ICD9CM:401.1 +xref: NCI:C3656 +xref: SNOMEDCT_US_2015_03_01:1201005 +xref: SNOMEDCT_US_2015_03_01:194758001 +xref: UMLS_CUI:C0155583 +is_a: DOID:10825 ! essential hypertension + +[Term] +id: DOID:10914 +name: amnestic disorder +alt_id: DOID:4544 +def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information." [url:http\://en.wikipedia.org/wiki/Amnesia, url:http\://www.minddisorders.com/A-Br/Amnestic-disorders.html] +synonym: "amnesia" EXACT [] +synonym: "Amnestic syndrome" EXACT [NCI2004_11_17:C35764] +synonym: "Korsakoff's psychosis or syndrome" EXACT [MTHICD9_2006:294.0] +xref: ICD10CM:R41.3 +xref: ICD9CM:294.0 +xref: MSH:D000647 +xref: NCI:C2867 +xref: SNOMEDCT_US_2015_03_01:162199006 +xref: SNOMEDCT_US_2015_03_01:247606008 +xref: SNOMEDCT_US_2015_03_01:3298001 +xref: SNOMEDCT_US_2015_03_01:386807006 +xref: SNOMEDCT_US_2015_03_01:48167000 +xref: SNOMEDCT_US_2015_03_01:78461004 +xref: UMLS_CUI:C0002622 +xref: UMLS_CUI:C0002625 +is_a: DOID:1561 ! cognitive disorder + +[Term] +id: DOID:10915 +name: Wernicke-Korsakoff syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Korsakoff Syndrome" EXACT [] +synonym: "Korsakoff's psychosis (disorder)" EXACT [SNOMEDCT_2005_07_31:69482004] +synonym: "Korsakoff's syndrome" EXACT [CSP2005:2042-6017] +synonym: "Korsakov psychosis" EXACT [SNOMEDCT_2005_07_31:191470004] +synonym: "Korsakov's psychosis" EXACT [SNOMEDCT_2005_07_31:268745002] +xref: MSH:D020915 +xref: NCI:C35764 +xref: NCI:C84803 +xref: OMIM:277730 +xref: SNOMEDCT_US_2015_03_01:154854002 +xref: SNOMEDCT_US_2015_03_01:191470004 +xref: SNOMEDCT_US_2015_03_01:191472007 +xref: SNOMEDCT_US_2015_03_01:268745002 +xref: SNOMEDCT_US_2015_03_01:69482004 +xref: UMLS_CUI:C0349464 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:10918 +name: transsexuality with asexual history +synonym: "Trans-sexualism with asexual history" EXACT [ICD9CM_2006:302.51] +synonym: "Transsexuality with asexual history (disorder)" EXACT [SNOMEDCT_2005_07_31:191783002] +is_obsolete: true + +[Term] +id: DOID:10919 +name: transsexualism +def: "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex." [url:http\://en.wikipedia.org/wiki/Transsexualism] +xref: ICD9CM:302.50 +xref: SNOMEDCT_US_2015_03_01:191782007 +xref: UMLS_CUI:C0040630 +is_a: DOID:1234 ! gender identity disorder + +[Term] +id: DOID:10921 +name: Siberian tick typhus +alt_id: DOID:0050054 +alt_id: DOID:0050055 +def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "manchurian typhus" EXACT [] +synonym: "North Asian tick fever" EXACT [ICD9CM_2006:082.2] +synonym: "North Asian tick fever (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:7692008] +synonym: "North Asian tick fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186783000] +synonym: "North Asian tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:186781003] +synonym: "Rickettsia sibirica spotted fever" EXACT [] +synonym: "Siberian tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:186782005] +xref: ICD10CM:A77.2 +xref: ICD9CM:082.2 +xref: SNOMEDCT_US_2015_03_01:186781003 +xref: SNOMEDCT_US_2015_03_01:186782005 +xref: SNOMEDCT_US_2015_03_01:186783000 +xref: SNOMEDCT_US_2015_03_01:7692008 +xref: UMLS_CUI:C0549160 +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:10922 +name: sickle-cell crisis +synonym: "Hb-S disease with mention of crisis" EXACT [ICD9CM_2006:282.62] +synonym: "Hemoglobin S disease with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:72279006] +synonym: "Hemoglobin SS disease with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:417425009] +synonym: "Sickle cell anemia with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:191197002] +synonym: "sickle cell crisis" EXACT [CSP2005:1418-5715] +is_obsolete: true + +[Term] +id: DOID:10923 +name: sickle cell anemia +alt_id: DOID:12924 +alt_id: DOID:13024 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "drepanocytosis" EXACT [] +synonym: "Hb SC disease" EXACT [SNOMEDCT_2005_07_31:35434009] +synonym: "Hb-S/Hb-C disease" EXACT [MTHICD9_2006:282.63] +synonym: "Hb-SS disease without crisis" EXACT [] +synonym: "Hemoglobin S disease without crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:21976009] +synonym: "hemoglobin SC disease" EXACT [] +synonym: "Sickle-cell/Hb-C disease without crisis" EXACT [ICD9CM_2006:282.63] +xref: EFOpat_id:125 +xref: ICD10CM:D57 +xref: ICD10CM:D57.1 +xref: ICD10CM:D57.2 +xref: ICD10CM:D57.20 +xref: ICD9CM:282.6 +xref: ICD9CM:282.60 +xref: ICD9CM:282.63 +xref: MSH:D000755 +xref: MSH:D006450 +xref: NCI:C34383 +xref: NCI:C34676 +xref: OMIM:603903 +xref: SNOMEDCT_US_2015_03_01:127040003 +xref: SNOMEDCT_US_2015_03_01:154798006 +xref: SNOMEDCT_US_2015_03_01:191194009 +xref: SNOMEDCT_US_2015_03_01:191195005 +xref: SNOMEDCT_US_2015_03_01:191199004 +xref: SNOMEDCT_US_2015_03_01:276267006 +xref: SNOMEDCT_US_2015_03_01:35434009 +xref: SNOMEDCT_US_2015_03_01:417357006 +xref: SNOMEDCT_US_2015_03_01:80046004 +xref: UMLS_CUI:C0002895 +xref: UMLS_CUI:C0019034 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:10924 +name: catatonic type schizophrenia chronic state +is_obsolete: true + +[Term] +id: DOID:10925 +name: catatonic schizophrenia +is_obsolete: true + +[Term] +id: DOID:10927 +name: gastrojejunal ulcer +alt_id: DOID:10926 +alt_id: DOID:10928 +alt_id: DOID:10929 +alt_id: DOID:12230 +alt_id: DOID:12232 +alt_id: DOID:14085 +alt_id: DOID:14137 +alt_id: DOID:9522 +alt_id: DOID:9523 +alt_id: DOID:9524 +synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [] +synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT [] +synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:72408002] +synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT [] +synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [] +synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:58711008] +synonym: "acute gastrojejunal ulcer with perforation" EXACT [] +synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT [] +synonym: "acute gastrojejunal ulcer with perforation AND obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:72219001] +synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [ICD9CM_2006:534.11] +synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] +synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] +synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:77987006] +synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:534.30] +synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [ICD9CM_2006:534.01] +synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] +synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] +synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:41626001] +synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [ICD9CM_2006:534.70] +xref: ICD10CM:K28.0 +xref: ICD9CM:534.0 +xref: SNOMEDCT_US_2015_03_01:196709002 +xref: SNOMEDCT_US_2015_03_01:63954007 +xref: UMLS_CUI:C0156042 +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:10930 +name: borderline personality disorder +def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods." [url:http\://en.wikipedia.org/wiki/Borderline_personality_disorder] +xref: ICD10CM:F60.3 +xref: ICD9CM:301.83 +xref: MSH:D001883 +xref: NCI:C92633 +xref: SNOMEDCT_US_2015_03_01:192488005 +xref: SNOMEDCT_US_2015_03_01:20010003 +xref: UMLS_CUI:C0006012 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10931 +name: dependent personality disorder +def: "A personality disorder that is characterized by a pervasive psychological dependence on other people." [url:http\://en.wikipedia.org/wiki/Dependent_personality_disorder] +xref: ICD10CM:F60.7 +xref: ICD9CM:301.6 +xref: MSH:D003859 +xref: NCI:C92637 +xref: SNOMEDCT_US_2015_03_01:191768007 +xref: SNOMEDCT_US_2015_03_01:192492003 +xref: SNOMEDCT_US_2015_03_01:84466009 +xref: UMLS_CUI:C0011548 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10932 +name: obsessive-compulsive personality disorder +def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency." [url:http\://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder] +synonym: "Anankastic personality disorder" RELATED [SNOMEDCT_2005_07_31:191762008] +synonym: "Obsessional personality" RELATED [MTHICD9_2006:301.4] +synonym: "OCPD" EXACT [] +xref: ICD10CM:F60.5 +xref: ICD9CM:301.4 +xref: MSH:D003193 +xref: NCI:C92638 +xref: SNOMEDCT_US_2015_03_01:112091009 +xref: SNOMEDCT_US_2015_03_01:1376001 +xref: SNOMEDCT_US_2015_03_01:154899005 +xref: SNOMEDCT_US_2015_03_01:191760000 +xref: SNOMEDCT_US_2015_03_01:191761001 +xref: SNOMEDCT_US_2015_03_01:191762008 +xref: SNOMEDCT_US_2015_03_01:192490006 +xref: SNOMEDCT_US_2015_03_01:271200007 +xref: UMLS_CUI:C0009595 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10933 +name: obsessive-compulsive disorder +def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/] +synonym: "Anancastic neurosis" EXACT [MTHICD9_2006:300.3] +synonym: "obsessive compulsive disorder" EXACT [] +xref: ICD10CM:F42 +xref: ICD9CM:300.3 +xref: MSH:D009771 +xref: NCI:C88411 +xref: SNOMEDCT_US_2015_03_01:191736004 +xref: SNOMEDCT_US_2015_03_01:191739006 +xref: SNOMEDCT_US_2015_03_01:192406007 +xref: SNOMEDCT_US_2015_03_01:192411009 +xref: SNOMEDCT_US_2015_03_01:71478004 +xref: UMLS_CUI:C0028768 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:10934 +name: multiple personality disorder +def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities." [url:http\://en.wikipedia.org/wiki/Dissociative_identity_disorder] +synonym: "Dissociative identity disorder" EXACT [ICD9CM_2006:300.14] +xref: ICD10CM:F44.81 +xref: ICD9CM:300.14 +xref: MSH:D009105 +xref: NCI:C94330 +xref: SNOMEDCT_US_2015_03_01:192428007 +xref: SNOMEDCT_US_2015_03_01:31611000 +xref: UMLS_CUI:C0026773 +is_a: DOID:10935 ! dissociative disorder + +[Term] +id: DOID:10935 +name: dissociative disorder +alt_id: DOID:4963 +def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)." [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html] +synonym: "dissociative disease" EXACT [] +synonym: "dissociative reaction" EXACT [CSP2005:2483-7018] +xref: ICD10CM:F44.9 +xref: ICD10CM:F48.9 +xref: ICD9CM:300.15 +xref: ICD9CM:300.9 +xref: MSH:D004213 +xref: NCI:C92197 +xref: SNOMEDCT_US_2015_03_01:154883004 +xref: SNOMEDCT_US_2015_03_01:44376007 +xref: UMLS_CUI:C0012746 +xref: UMLS_CUI:C0041857 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:10936 +name: schizoid personality disorder +def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world." [url:http\://en.wikipedia.org/wiki/Schizoid_personality_disorder] +xref: ICD10CM:F60.1 +xref: ICD9CM:301.2 +xref: ICD9CM:301.20 +xref: MSH:D012557 +xref: NCI:C92631 +xref: SNOMEDCT_US_2015_03_01:191756003 +xref: SNOMEDCT_US_2015_03_01:191758002 +xref: SNOMEDCT_US_2015_03_01:192486009 +xref: SNOMEDCT_US_2015_03_01:52954000 +xref: UMLS_CUI:C0036339 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10937 +name: impulse control disorder +def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others." [url:http\://www.forensicpsychiatry.ca/impulse/overview.htm] +xref: ICD10CM:F63.9 +xref: ICD9CM:312.30 +xref: MSH:D007174 +xref: NCI:C34723 +xref: SNOMEDCT_US_2015_03_01:192095006 +xref: SNOMEDCT_US_2015_03_01:192098008 +xref: SNOMEDCT_US_2015_03_01:66347000 +xref: UMLS_CUI:C0021122 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:10938 +name: paranoid personality disorder +def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others." [url:http\://en.wikipedia.org/wiki/Paranoid_personality_disorder] +xref: ICD10CM:F60.0 +xref: ICD9CM:301.0 +xref: MSH:D010260 +xref: NCI:C92630 +xref: SNOMEDCT_US_2015_03_01:13601005 +xref: SNOMEDCT_US_2015_03_01:154896003 +xref: SNOMEDCT_US_2015_03_01:191750009 +xref: SNOMEDCT_US_2015_03_01:192485008 +xref: SNOMEDCT_US_2015_03_01:270529002 +xref: UMLS_CUI:C0030477 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:10939 +name: antisocial personality disorder +def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood." [url:http\://en.wikipedia.org/wiki/Antisocial_personality_disorder] +synonym: "Asocial personality" EXACT [MTHICD9_2006:301.7] +synonym: "Dissocial personality disorder" EXACT [SNOMEDCT_2005_07_31:192487000] +synonym: "Psychopath.personality" EXACT [SNOMEDCT_2005_07_31:268759009] +synonym: "Psychopathic personality" EXACT [SNOMEDCT_2005_07_31:191777000] +synonym: "Psychopathic personality disorder" EXACT [MTHICD9_2006:301.9] +synonym: "sociopathic personality" EXACT [CSP2005:2483-7185] +xref: ICD10CM:F60.2 +xref: ICD9CM:301.7 +xref: MSH:D000987 +xref: NCI:C88413 +xref: SNOMEDCT_US_2015_03_01:191769004 +xref: SNOMEDCT_US_2015_03_01:191777000 +xref: SNOMEDCT_US_2015_03_01:192487000 +xref: SNOMEDCT_US_2015_03_01:26665006 +xref: SNOMEDCT_US_2015_03_01:268759009 +xref: UMLS_CUI:C0003431 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:1094 +name: attention deficit hyperactivity disorder +alt_id: DOID:1093 +def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone\" and symptoms starting before seven years of age." [url:http\://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "ADHD" EXACT [] +synonym: "attention deficit disorder" EXACT [] +synonym: "hyperkinetic disorder" EXACT [] +xref: EFO:0003888 +xref: ICD9CM:314.8 +xref: MSH:D001289 +xref: NCI:C35092 +xref: OMIM:143465 +xref: OMIM:608903 +xref: OMIM:608904 +xref: OMIM:608905 +xref: OMIM:608906 +xref: OMIM:612311 +xref: OMIM:612312 +xref: OMIM:613003 +xref: UMLS_CUI:C0041671 +xref: UMLS_CUI:C0154629 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:10941 +name: intracranial aneurysm +synonym: "brain aneurysm" EXACT [] +xref: EFO:0003870 +xref: MSH:D002532 +xref: NCI:C34458 +xref: SNOMEDCT_US_2015_03_01:128609009 +xref: SNOMEDCT_US_2015_03_01:42994005 +xref: UMLS_CUI:C0007766 +is_a: DOID:3527 ! cerebral arterial disease + +[Term] +id: DOID:10944 +name: tongue disease +xref: ICD10CM:K14 +xref: ICD10CM:K14.9 +xref: ICD9CM:529.9 +xref: MSH:D014060 +xref: SNOMEDCT_US_2015_03_01:155533008 +xref: SNOMEDCT_US_2015_03_01:155665004 +xref: SNOMEDCT_US_2015_03_01:155667007 +xref: SNOMEDCT_US_2015_03_01:196595001 +xref: SNOMEDCT_US_2015_03_01:266496009 +xref: SNOMEDCT_US_2015_03_01:69244009 +xref: UMLS_CUI:C0040409 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:10952 +name: nephritis +xref: ICD10CM:N05 +xref: ICD10CM:N08 +xref: MSH:D009393 +xref: NCI:C26833 +xref: SNOMEDCT_US_2015_03_01:155853001 +xref: SNOMEDCT_US_2015_03_01:266615001 +xref: SNOMEDCT_US_2015_03_01:274107001 +xref: SNOMEDCT_US_2015_03_01:52845002 +xref: UMLS_CUI:C0027697 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:10955 +name: strongyloidiasis +alt_id: DOID:0050008 +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." [url:http\://en.wikipedia.org/wiki/Strongyloidiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm] +synonym: "disseminated strongyloidiasis" EXACT [] +synonym: "Infection by Strongyloides (disorder)" EXACT [SNOMEDCT_2005_07_31:1214006] +xref: ICD10CM:B78 +xref: ICD10CM:B78.9 +xref: ICD9CM:127.2 +xref: MSH:D013322 +xref: SNOMEDCT_US_2015_03_01:1214006 +xref: SNOMEDCT_US_2015_03_01:187177001 +xref: SNOMEDCT_US_2015_03_01:187537002 +xref: UMLS_CUI:C0038463 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:10957 +name: Enterobacter aerogenes intestinal infectious disease +def: "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers." [url:http\://emedicine.medscape.com/article/216845-overview] +synonym: "intestinal infection due to aerobacter aerogenes" EXACT [ICD9CM_2006:008.2] +is_obsolete: true + +[Term] +id: DOID:10958 +name: Salmonella arizonae intestinal infectious disease +def: "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14662995] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "intestinal infectious disease due to arizona group of paracolon bacilli" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10959 +name: Escherichia coli intestinal infectious disease +def: "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html, url:http\://www.who.int/mediacentre/factsheets/fs125/en/] +subset: gram-negative_bacterial_infectious_disease +synonym: "intestinal infectious disease due to Escherichia coli" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10963 +name: cholesteatoma of attic +xref: ICD10CM:H71.0 +xref: ICD10CM:H71.00 +xref: ICD9CM:385.31 +xref: SNOMEDCT_US_2015_03_01:38708003 +xref: UMLS_CUI:C0155489 +is_a: DOID:10964 ! cholesteatoma of middle ear + +[Term] +id: DOID:10964 +name: cholesteatoma of middle ear +alt_id: DOID:11433 +synonym: "Cholesteatoma of middle ear" EXACT [ICD9CM_2006:385.32] +synonym: "Cholesteatoma of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:87688009] +synonym: "Cholesteatoma of middle ear and mastoid" EXACT [ICD9CM_2006:385.33] +synonym: "Cholesteatoma of middle ear and/or mastoid" EXACT [SNOMEDCT_2005_07_31:39911004] +synonym: "Cholesteatoma of the middle ear" EXACT [NCI2004_11_17:C3654] +synonym: "Epidermosis of ear" EXACT [MTHICD9_2006:385.3] +synonym: "Epidermosis of middle ear" EXACT [SNOMEDCT_2005_07_31:39911004] +synonym: "middle ear cholesteatoma" EXACT [] +synonym: "Unspecified cholesteatoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:194338004] +xref: ICD10CM:H71 +xref: ICD9CM:385.32 +xref: ICD9CM:385.33 +xref: MSH:D018424 +xref: NCI:C3654 +xref: SNOMEDCT_US_2015_03_01:194339007 +xref: SNOMEDCT_US_2015_03_01:194340009 +xref: SNOMEDCT_US_2015_03_01:360584008 +xref: SNOMEDCT_US_2015_03_01:39911004 +xref: SNOMEDCT_US_2015_03_01:87688009 +xref: UMLS_CUI:C0008374 +xref: UMLS_CUI:C0155490 +is_a: DOID:869 ! cholesteatoma + +[Term] +id: DOID:10965 +name: spastic diplegia +alt_id: DOID:3778 +def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] +synonym: "cerebral spastic infantile paralysis" EXACT [CSP2005:0723-4729] +synonym: "Diplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.0] +synonym: "infantile diplegic cerebral palsy" EXACT [] +synonym: "Infantile spastic cerebral palsy" EXACT [SNOMEDCT_2005_07_31:1178005] +synonym: "Little's disease" EXACT [] +synonym: "Littles disease" EXACT [SNOMEDCT_2005_07_31:192947000] +synonym: "Spastic Diplegia" EXACT [NCI2004_11_17:C34781] +synonym: "Spastic diplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:281411007] +xref: ICD10CM:G80.1 +xref: ICD9CM:343.0 +xref: MSH:D002547 +xref: NCI:C34781 +xref: SNOMEDCT_US_2015_03_01:1178005 +xref: SNOMEDCT_US_2015_03_01:192947000 +xref: SNOMEDCT_US_2015_03_01:275469001 +xref: SNOMEDCT_US_2015_03_01:281411007 +xref: UMLS_CUI:C0023882 +xref: UMLS_CUI:C0154695 +is_a: DOID:0050669 ! spastic cerebral palsy + +[Term] +id: DOID:10966 +name: lipoid nephrosis +synonym: "Minimal change disease (disorder)" EXACT [SNOMEDCT_2005_07_31:44785005] +synonym: "Minimal Change Glomerulonephritis" EXACT [NCI2004_11_17:C34844] +synonym: "Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis" EXACT [NCI2004_11_17:C35540] +synonym: "Nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [ICD9CM_2006:581.3] +synonym: "Nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [MTHICD9_2006:581.3] +xref: ICD10CM:N04 +xref: MSH:D009402 +xref: SNOMEDCT_US_2015_03_01:197592009 +xref: SNOMEDCT_US_2015_03_01:44785005 +xref: UMLS_CUI:C0027721 +is_a: DOID:1184 ! nephrotic syndrome +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:10967 +name: spastic hemiplegia +def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] +synonym: "Congenital hemiplegia" EXACT [MTHICD9_2006:343.1] +synonym: "hemiplegic cerebral palsy" EXACT [] +synonym: "Hemiplegic cerebral palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:43486001] +synonym: "Hemiplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.1] +synonym: "spastic hemiplegic cerebral palsy" EXACT [] +xref: ICD9CM:343.1 +xref: SNOMEDCT_US_2015_03_01:258714003 +xref: SNOMEDCT_US_2015_03_01:43486001 +xref: UMLS_CUI:C0270805 +is_a: DOID:0050669 ! spastic cerebral palsy + +[Term] +id: DOID:10968 +name: spastic monoplegia +def: "A spastic cerebral palsy that affects only one limb." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] +synonym: "infantile monoplegic cerebral palsy" EXACT [] +synonym: "Monoplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.3] +synonym: "spastic monoplegic cerebral palsy" EXACT [] +xref: ICD9CM:343.3 +xref: MSH:D002547 +xref: UMLS_CUI:C0154698 +is_a: DOID:0050669 ! spastic cerebral palsy + +[Term] +id: DOID:10969 +name: hemiplegia +synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:155024003] +synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:267696006] +synonym: "Infantile hemiplegia" EXACT [SNOMEDCT_2005_07_31:155025002] +synonym: "Infantile hemiplegia" EXACT [ICD9CM_2006:343.4] +synonym: "Infantile hemiplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:1593000] +synonym: "Infantile hemiplegia [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:192952005] +synonym: "Infantile hemiplegia NOS" EXACT [SNOMEDCT_2005_07_31:155026001] +synonym: "Infantile hemiplegia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192955007] +synonym: "Postnatal infantile hemiplegia NOS" EXACT [MTHICD9_2006:343.4] +xref: ICD9CM:343.4 +xref: MSH:D006429 +xref: SNOMEDCT_US_2015_03_01:155024003 +xref: SNOMEDCT_US_2015_03_01:155025002 +xref: SNOMEDCT_US_2015_03_01:155026001 +xref: SNOMEDCT_US_2015_03_01:1593000 +xref: SNOMEDCT_US_2015_03_01:192952005 +xref: SNOMEDCT_US_2015_03_01:192955007 +xref: SNOMEDCT_US_2015_03_01:267696006 +xref: UMLS_CUI:C0392550 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:1097 +name: hydrops fetalis +def: "Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis." [stedman:rlc, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis] +is_obsolete: true + +[Term] +id: DOID:10970 +name: spastic quadriplegia +def: "A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking." [url:http\://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "quadriplegic infantile cerebral palsy" EXACT [ICD9CM_2006:343.2] +synonym: "spastic quadriplegic cerebral palsy" EXACT [] +synonym: "tetraplegic infantile cerebral palsy" EXACT [MTHICD9_2006:343.2] +xref: ICD9CM:343.2 +xref: MSH:D002547 +xref: OMIM:603513 +xref: OMIM:612900 +xref: ORDO:210141 +xref: SNOMEDCT_US_2015_03_01:192953000 +xref: SNOMEDCT_US_2015_03_01:275468009 +xref: UMLS_CUI:C0154697 +is_a: DOID:0050669 ! spastic cerebral palsy + +[Term] +id: DOID:10971 +name: acute salpingo-oophoritis +synonym: "acute salpingitis &/or oophoritis" EXACT [SNOMEDCT_2005_07_31:198132003] +synonym: "acute salpingitis and oophoritis" EXACT [ICD9CM_2006:614.0] +synonym: "acute salpingitis and oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198139007] +synonym: "acute salpingo-oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:266581008] +xref: ICD10CM:N70.0 +xref: ICD10CM:N70.03 +xref: ICD9CM:614.0 +xref: SNOMEDCT_US_2015_03_01:155969007 +xref: SNOMEDCT_US_2015_03_01:198132003 +xref: SNOMEDCT_US_2015_03_01:198134002 +xref: SNOMEDCT_US_2015_03_01:198139007 +xref: SNOMEDCT_US_2015_03_01:266581008 +xref: UMLS_CUI:C0156327 +is_a: DOID:10972 ! salpingo-oophoritis + +[Term] +id: DOID:10972 +name: salpingo-oophoritis +synonym: "Salpingitis and oophoritis not specified as acute, subacute, or chronic" EXACT [ICD9CM_2006:614.2] +synonym: "Salpingitis and oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198147007] +synonym: "Salpingitis/oophoritis NOS" EXACT [SNOMEDCT_2005_07_31:155971007] +synonym: "Salpingitis/oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266650009] +synonym: "Salpingo-oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198150005] +synonym: "Tubo-ovarian inflammatory disease" EXACT [MTHICD9_2006:614.2] +synonym: "Tubo-ovarian inflammatory disease (disorder)" EXACT [SNOMEDCT_2005_07_31:46536000] +synonym: "Unspecified salpingitis and oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198153007] +xref: ICD10CM:N70 +xref: ICD10CM:N70.9 +xref: ICD10CM:N70.93 +xref: ICD9CM:614.2 +xref: SNOMEDCT_US_2015_03_01:155971007 +xref: SNOMEDCT_US_2015_03_01:198147007 +xref: SNOMEDCT_US_2015_03_01:198150005 +xref: SNOMEDCT_US_2015_03_01:198153007 +xref: SNOMEDCT_US_2015_03_01:266650009 +xref: SNOMEDCT_US_2015_03_01:46536000 +xref: UMLS_CUI:C0036133 +is_a: DOID:10974 ! oophoritis +is_a: DOID:5733 ! salpingitis + +[Term] +id: DOID:10973 +name: acute salpingitis +synonym: "acute Salpingitis" EXACT [NCI2004_11_17:C40120] +synonym: "acute salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:8912009] +xref: ICD10CM:N70.01 +xref: NCI:C40120 +xref: SNOMEDCT_US_2015_03_01:8912009 +xref: UMLS_CUI:C0269038 +is_a: DOID:5733 ! salpingitis + +[Term] +id: DOID:10974 +name: oophoritis +synonym: "Oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:76047005] +synonym: "Oophoritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198148002] +xref: ICD10CM:N70.92 +xref: MSH:D009869 +xref: SNOMEDCT_US_2015_03_01:155968004 +xref: SNOMEDCT_US_2015_03_01:198148002 +xref: SNOMEDCT_US_2015_03_01:266648001 +xref: SNOMEDCT_US_2015_03_01:76047005 +xref: UMLS_CUI:C0029051 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:10976 +name: membranous glomerulonephritis +synonym: "Membranous Glomerulonephritis" EXACT [NCI2004_11_17:C34645] +synonym: "Membranous glomerulonephritis" EXACT [SNOMEDCT_2005_07_31:197710000] +synonym: "Membranous glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:77182004] +synonym: "membranous nephropathy" EXACT [CSP2005:4006-0062] +synonym: "Membranous nephropathy NOS" EXACT [MTHICD9_2006:583.1] +xref: EFO:0004254 +xref: ICD10CM:N03.2 +xref: MSH:D015433 +xref: NCI:C34645 +xref: SNOMEDCT_US_2015_03_01:197710000 +xref: SNOMEDCT_US_2015_03_01:77182004 +xref: UMLS_CUI:C0017665 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:10978 +name: poliovirus type III nonparalytic poliomyelitis +def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] +synonym: "acute nonparalytic poliomyelitis poliovirus type III" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10979 +name: poliovirus type I nonparalytic poliomyelitis +def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] +synonym: "acute nonparalytic poliomyelitis poliovirus type I" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1098 +name: fetal erythroblastosis +synonym: "(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)" EXACT [SNOMEDCT_2005_07_31:206430005] +synonym: "EF - Erythroblastosis foetalis" EXACT [SNOMEDCT_2005_07_31:387705004] +synonym: "erythroblastosis fetalis" EXACT [CSP2005:0441-2309] +xref: ICD10CM:P55 +xref: ICD10CM:P55.9 +xref: ICD9CM:773 +xref: ICD9CM:773.2 +xref: MSH:D004899 +xref: NCI:C101304 +xref: SNOMEDCT_US_2015_03_01:111468003 +xref: SNOMEDCT_US_2015_03_01:123307003 +xref: SNOMEDCT_US_2015_03_01:157130001 +xref: SNOMEDCT_US_2015_03_01:206429000 +xref: SNOMEDCT_US_2015_03_01:206430005 +xref: SNOMEDCT_US_2015_03_01:206431009 +xref: SNOMEDCT_US_2015_03_01:206436004 +xref: SNOMEDCT_US_2015_03_01:25121006 +xref: SNOMEDCT_US_2015_03_01:268878003 +xref: SNOMEDCT_US_2015_03_01:276577009 +xref: SNOMEDCT_US_2015_03_01:33130007 +xref: SNOMEDCT_US_2015_03_01:387705004 +xref: UMLS_CUI:C0014761 +is_a: DOID:11252 ! microcytic anemia + +[Term] +id: DOID:10980 +name: poliovirus type II nonparalytic poliomyelitis +def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] +synonym: "acute nonparalytic poliomyelitis poliovirus type II" EXACT [] +is_obsolete: true + +[Term] +id: DOID:10983 +name: Alport syndrome +def: "A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." [url:http\://en.wikipedia.org/wiki/Alport_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Hereditary Nephritis" EXACT [NCI2004_11_17:C34842] +xref: MSH:D009394 +xref: OMIM:104200 +xref: OMIM:203780 +xref: OMIM:301050 +xref: SNOMEDCT_US_2015_03_01:399340005 +xref: SNOMEDCT_US_2015_03_01:57333009 +xref: UMLS_CUI:C0027706 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:10986 +name: discitis +synonym: "discitis (disorder)" EXACT [SNOMEDCT_2005_07_31:2304001] +xref: ICD10CM:M46.4 +xref: MSH:D015299 +xref: SNOMEDCT_US_2015_03_01:2304001 +xref: UMLS_CUI:C0012624 +is_a: DOID:1222 ! cartilage disease + +[Term] +id: DOID:10989 +name: conjunctival vascular disease +synonym: "Conjunctival vascular abnormality NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193900004] +synonym: "vascular abnormalities of conjunctiva" EXACT [ICD9CM_2006:372.74] +synonym: "vascular abnormality of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:74100001] +xref: ICD10CM:H11.41 +xref: ICD9CM:372.74 +xref: NCI:C35116 +xref: SNOMEDCT_US_2015_03_01:193900004 +xref: SNOMEDCT_US_2015_03_01:74100001 +xref: UMLS_CUI:C0042370 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:1099 +name: alpha thalassemia +def: "Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes." [url:http\://en.wikipedia.org/wiki/Alpha_Thalassemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alpha thalassaemia" EXACT [SNOMEDCT_2005_07_31:191186002] +synonym: "alpha-Thalassemia" EXACT [] +synonym: "Hemoglobin H disease" EXACT [NCI2004_11_17:C34368] +xref: ICD10CM:D56.0 +xref: ICD9CM:282.43 +xref: MSH:D017085 +xref: NCI:C34368 +xref: OMIM:141750 +xref: OMIM:141800 +xref: OMIM:301040 +xref: OMIM:604131 +xref: OMIM:613978 +xref: SNOMEDCT_US_2015_03_01:191186002 +xref: SNOMEDCT_US_2015_03_01:68913001 +xref: UMLS_CUI:C0002312 +is_a: DOID:10241 ! thalassemia + +[Term] +id: DOID:10991 +name: basal ganglia cerebrovascular disease +xref: MSH:D020144 +xref: UMLS_CUI:C0751739 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:10992 +name: acute hemorrhagic leukoencephalitis +def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis, url:http\://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [SNOMEDCT_2005_07_31:72986009] +synonym: "acute hemorrhagic encephalomyelitis" EXACT [] +synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [] +synonym: "AHL " EXACT [OMIM:606752] +synonym: "Weston-Hurst syndrome" EXACT [] +xref: MSH:D004684 +xref: NCI:C84535 +xref: OMIM:606752 +xref: SNOMEDCT_US_2015_03_01:72986009 +xref: UMLS_CUI:C0014077 +is_a: DOID:639 ! acute disseminated encephalomyelitis + +[Term] +id: DOID:10993 +name: postinfectious encephalitis +synonym: "Post-infectious encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192727001] +synonym: "Post-infectious encephalitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192729003] +synonym: "Postinfective encephalitis" EXACT [SNOMEDCT_2005_07_31:267683005] +synonym: "Postinfective encephalitis" EXACT [SNOMEDCT_2005_07_31:154989001] +is_obsolete: true + +[Term] +id: DOID:10997 +name: immature cataract +synonym: "Immature cataract NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193585003] +synonym: "Incipient cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:52421005] +synonym: "Incipient cataract NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193584004] +synonym: "Incipient senile cataract" EXACT [ICD9CM_2006:366.12] +synonym: "Water clefts" EXACT [MTHICD9_2006:366.12] +xref: ICD10CM:H25.09 +xref: SNOMEDCT_US_2015_03_01:193584004 +xref: SNOMEDCT_US_2015_03_01:52421005 +xref: UMLS_CUI:C0271163 +is_a: DOID:9669 ! senile cataract + +[Term] +id: DOID:10998 +name: chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis +is_obsolete: true + +[Term] +id: DOID:110 +name: lens disease +synonym: "disorder of lens" EXACT [SNOMEDCT_2005_07_31:194613002] +synonym: "lens disorder" EXACT [CSP2005:1114-9053] +xref: ICD10CM:H25-H28 +xref: ICD10CM:H27.9 +xref: MSH:D007905 +xref: NCI:C26812 +xref: SNOMEDCT_US_2015_03_01:10810001 +xref: SNOMEDCT_US_2015_03_01:194158009 +xref: SNOMEDCT_US_2015_03_01:194613002 +xref: UMLS_CUI:C0023308 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:1100 +name: ovarian disease +synonym: "disorder of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:5552004] +synonym: "Ovarian disorder" EXACT [NCI2004_11_17:C26841] +synonym: "ovary disorder" EXACT [CSP2005:2587-6126] +xref: MSH:D010049 +xref: NCI:C26841 +xref: SNOMEDCT_US_2015_03_01:5552004 +xref: UMLS_CUI:C0029928 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:11000 +name: progressive iris atrophy +synonym: "Essential iris atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:25913001] +synonym: "Essential or progressive iris atrophy" EXACT [ICD9CM_2006:364.51] +is_obsolete: true + +[Term] +id: DOID:11001 +name: Iris and ciliary body degeneration +is_obsolete: true + +[Term] +id: DOID:11002 +name: Iridoschisis +synonym: "Iridoschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:5743005] +is_obsolete: true + +[Term] +id: DOID:11003 +name: pupillary margin miotic cyst +synonym: "Miotic cyst of pupillary margin (disorder)" EXACT [SNOMEDCT_2005_07_31:22681004] +synonym: "Miotic cysts of pupillary margin" EXACT [ICD9CM_2006:364.55] +is_obsolete: true + +[Term] +id: DOID:11005 +name: Atrophy of sphincter of iris +synonym: "degeneration of pupillary margin" EXACT [ICD9CM_2006:364.54] +synonym: "degeneration of pupillary margin (disorder)" EXACT [SNOMEDCT_2005_07_31:25859000] +is_obsolete: true + +[Term] +id: DOID:11014 +name: anorectal stricture +synonym: "Anorectal stricture (disorder)" EXACT [SNOMEDCT_2005_07_31:68627009] +synonym: "Stenosis of rectum and anus" EXACT [SNOMEDCT_2005_07_31:155803007] +synonym: "Stenosis of rectum and anus" EXACT [ICD9CM_2006:569.2] +synonym: "Stenosis of rectum and anus (disorder)" EXACT [SNOMEDCT_2005_07_31:197216007] +synonym: "Stenosis of rectum and anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197218008] +xref: ICD10CM:K62.4 +xref: ICD9CM:569.2 +xref: MSH:C537771 +xref: SNOMEDCT_US_2015_03_01:155803007 +xref: SNOMEDCT_US_2015_03_01:197216007 +xref: SNOMEDCT_US_2015_03_01:197218008 +xref: SNOMEDCT_US_2015_03_01:68627009 +xref: UMLS_CUI:C0156183 +is_a: DOID:3128 ! anus disease + +[Term] +id: DOID:11018 +name: postsurgical testicular hypofunction +synonym: "Post-surgical testicular hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:190553000] +synonym: "Postablative testicular hypofunction" EXACT [ICD9CM_2006:257.1] +synonym: "Postablative testicular hypofunction (disorder)" EXACT [SNOMEDCT_2005_07_31:190552005] +synonym: "Postablative testicular hypofunction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190556008] +synonym: "Postsurgical testicular hypofunction (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:60237007] +is_obsolete: true + +[Term] +id: DOID:11019 +name: testicular dysfunction +is_obsolete: true + +[Term] +id: DOID:11020 +name: chronic glomerulonephritis with lesion of proliferative glomerulonephritis +synonym: "chronic glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [ICD9CM_2006:582.0] +is_obsolete: true + +[Term] +id: DOID:11027 +name: chronic glomerulonephritis with lesion of membranous glomerulonephritis +synonym: "chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis" EXACT [NCI2004_11_17:C34475] +is_obsolete: true + +[Term] +id: DOID:11028 +name: pseudopterygium +xref: ICD9CM:372.52 +xref: SNOMEDCT_US_2015_03_01:66139007 +xref: UMLS_CUI:C0155161 +is_a: DOID:10124 ! corneal disease +is_a: DOID:10139 ! conjunctival degeneration + +[Term] +id: DOID:11029 +name: pinguecula +synonym: "Pinguecula (disorder)" EXACT [SNOMEDCT_2005_07_31:87614000] +xref: ICD10CM:H11.15 +xref: ICD9CM:372.51 +xref: MSH:D059407 +xref: SNOMEDCT_US_2015_03_01:155169006 +xref: SNOMEDCT_US_2015_03_01:267735001 +xref: SNOMEDCT_US_2015_03_01:87614000 +xref: UMLS_CUI:C0152255 +is_a: DOID:10139 ! conjunctival degeneration + +[Term] +id: DOID:1103 +name: malignant esophageal neoplasm by topographic region +is_obsolete: true + +[Term] +id: DOID:11030 +name: corneal edema +synonym: "cornea edema" EXACT [CSP2005:1114-8704] +synonym: "CORNEAL EDEMA" EXACT [MTH:NOCODE] +synonym: "Corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:27194006] +synonym: "Corneal edema NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193817005] +synonym: "Corneal edema, unspecified" EXACT [ICD9CM_2006:371.20] +synonym: "Corneal oedema" EXACT [SNOMEDCT_2005_07_31:155158008] +synonym: "Corneal oedema [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193811006] +synonym: "Unspecified corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:193812004] +xref: ICD10CM:H18.20 +xref: ICD9CM:371.2 +xref: ICD9CM:371.20 +xref: MSH:D015715 +xref: NCI:C50508 +xref: SNOMEDCT_US_2015_03_01:155158008 +xref: SNOMEDCT_US_2015_03_01:193811006 +xref: SNOMEDCT_US_2015_03_01:193812004 +xref: SNOMEDCT_US_2015_03_01:193817005 +xref: SNOMEDCT_US_2015_03_01:27194006 +xref: UMLS_CUI:C0010037 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:11031 +name: bullous keratopathy +synonym: "Bullous Keratopathy" EXACT [NCI2004_11_17:C26970] +synonym: "Bullous keratopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:57207003] +xref: ICD10CM:H18.1 +xref: ICD9CM:371.23 +xref: NCI:C26970 +xref: SNOMEDCT_US_2015_03_01:193815002 +xref: SNOMEDCT_US_2015_03_01:57207003 +xref: UMLS_CUI:C0155111 +is_a: DOID:11030 ! corneal edema + +[Term] +id: DOID:11032 +name: secondary corneal edema +synonym: "secondary corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:27536004] +synonym: "secondary corneal edema [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:193814003] +xref: ICD10CM:H18.23 +xref: ICD9CM:371.22 +xref: SNOMEDCT_US_2015_03_01:193814003 +xref: SNOMEDCT_US_2015_03_01:27536004 +xref: UMLS_CUI:C0155110 +is_a: DOID:11030 ! corneal edema + +[Term] +id: DOID:11033 +name: idiopathic corneal edema +synonym: "Idiopathic corneal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:1794009] +synonym: "Idiopathic corneal edema [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:193813009] +xref: ICD10CM:H18.22 +xref: ICD9CM:371.21 +xref: SNOMEDCT_US_2015_03_01:1794009 +xref: SNOMEDCT_US_2015_03_01:193813009 +xref: UMLS_CUI:C0155109 +is_a: DOID:11030 ! corneal edema + +[Term] +id: DOID:11034 +name: contact lens corneal edema +synonym: "Corneal edema due to wearing of contact lenses" EXACT [ICD9CM_2006:371.24] +xref: ICD9CM:371.24 +xref: SNOMEDCT_US_2015_03_01:193816001 +xref: SNOMEDCT_US_2015_03_01:49362009 +xref: UMLS_CUI:C0474442 +is_a: DOID:11030 ! corneal edema + +[Term] +id: DOID:11036 +name: chronic rapidly progressive glomerulonephritis +synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [ICD9CM_2006:582.4] +synonym: "chronic rapidly progressive glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:197614002] +xref: ICD9CM:582.4 +xref: SNOMEDCT_US_2015_03_01:197614002 +xref: UMLS_CUI:C0341694 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:11037 +name: dissociative amnesia +def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress." [url:http\://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html] +synonym: "psychogenic amnesia" EXACT [CSP2005:2483-7018] +xref: ICD10CM:F44.0 +xref: ICD9CM:300.12 +xref: MSH:D000647 +xref: NCI:C94328 +xref: SNOMEDCT_US_2015_03_01:191716000 +xref: SNOMEDCT_US_2015_03_01:192420000 +xref: SNOMEDCT_US_2015_03_01:84209002 +xref: UMLS_CUI:C0236795 +is_a: DOID:10935 ! dissociative disorder + +[Term] +id: DOID:11038 +name: depersonalization disorder +def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization." [url:http\://en.wikipedia.org/wiki/Depersonalization_disorder] +synonym: "Neurotic derealization" EXACT [MTHICD9_2006:300.6] +xref: ICD9CM:300.6 +xref: MSH:D003861 +xref: NCI:C94331 +xref: SNOMEDCT_US_2015_03_01:70764005 +xref: UMLS_CUI:C0683416 +is_a: DOID:10935 ! dissociative disorder + +[Term] +id: DOID:11042 +name: Felty's syndrome +def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." [url:http\://emedicine.medscape.com/article/329734-overview, url:http\://en.wikipedia.org/wiki/Felty%27s_syndrome, url:http\://www.medicinenet.com/feltys_syndrome/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000445.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Felty syndrome" EXACT [] +synonym: "Rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [MTHICD9_2006:714.1] +xref: ICD10CM:M05.0 +xref: ICD10CM:M05.00 +xref: ICD9CM:714.1 +xref: MSH:D005258 +xref: NCI:C84712 +xref: OMIM:134750 +xref: SNOMEDCT_US_2015_03_01:156482001 +xref: SNOMEDCT_US_2015_03_01:57160007 +xref: UMLS_CUI:C0015773 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:11044 +name: gastroschisis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Gastroschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:72951007] +xref: ICD10CM:Q79.3 +xref: ICD9CM:756.73 +xref: MSH:D020139 +xref: NCI:C84725 +xref: OMIM:230750 +xref: SNOMEDCT_US_2015_03_01:72951007 +xref: UMLS_CUI:C0265706 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:11049 +name: meconium aspiration syndrome +synonym: "meconium aspiration" EXACT [] +synonym: "Neonatal aspiration of meconium (disorder)" EXACT [SNOMEDCT_2005_07_31:278927005] +xref: ICD10CM:P24.0 +xref: ICD10CM:P24.00 +xref: ICD10CM:P24.01 +xref: MSH:D008471 +xref: NCI:C87093 +xref: SNOMEDCT_US_2015_03_01:14608006 +xref: SNOMEDCT_US_2015_03_01:157110000 +xref: SNOMEDCT_US_2015_03_01:206292002 +xref: SNOMEDCT_US_2015_03_01:278927005 +xref: SNOMEDCT_US_2015_03_01:85779008 +xref: UMLS_CUI:C0025048 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:1105 +name: esophageal metastasis +synonym: "metastatic tumor to the esophagus" EXACT [NCI2004_11_17:C7479] +is_obsolete: true + +[Term] +id: DOID:11054 +name: urinary bladder cancer +alt_id: DOID:5428 +def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder." [url:http\://en.wikipedia.org/wiki/Bladder_cancer] +comment: OMIM mapping confirmed by DO. [SN]. +subset: TopNodes_DOcancerslim +synonym: "bladder cancer" EXACT [] +synonym: "tumor of the bladder" EXACT [NCI2004_11_17:C2901] +xref: ICD10CM:C67 +xref: ICD10CM:C67.9 +xref: ICD9CM:188 +xref: ICD9CM:188.9 +xref: KEGG:05219 +xref: MSH:D001749 +xref: NCI:C2901 +xref: NCI:C9334 +xref: OMIM:109800 +xref: SNOMEDCT_US_2015_03_01:126885006 +xref: SNOMEDCT_US_2015_03_01:154540000 +xref: SNOMEDCT_US_2015_03_01:188248005 +xref: SNOMEDCT_US_2015_03_01:269607003 +xref: SNOMEDCT_US_2015_03_01:363455001 +xref: SNOMEDCT_US_2015_03_01:399326009 +xref: SNOMEDCT_US_2015_03_01:93689003 +xref: UMLS_CUI:C0005684 +xref: UMLS_CUI:C0005695 +is_a: DOID:3996 ! urinary system cancer + +[Term] +id: DOID:11055 +name: pasteurellosis +def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." [url:http\://emedicine.medscape.com/article/224920-clinical#a0217, url:http\://en.wikipedia.org/wiki/Pasteurellosis] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Pasteurella infection" EXACT [SNOMEDCT_2005_07_31:276199008] +synonym: "Pasteurella infectious disease" EXACT [] +xref: ICD10CM:A28.0 +xref: ICD9CM:027.2 +xref: MSH:D010326 +xref: SNOMEDCT_US_2015_03_01:186328008 +xref: SNOMEDCT_US_2015_03_01:266086006 +xref: SNOMEDCT_US_2015_03_01:276199008 +xref: SNOMEDCT_US_2015_03_01:83172007 +xref: UMLS_CUI:C0030636 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11056 +name: Pasteurella hemorrhagic septicemia +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "hemorrhagic septicemia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1106 +name: esophagus lymphoma +synonym: "Lymphoma of esophagus" EXACT [NCI2004_11_17:C5687] +xref: NCI:C5687 +xref: UMLS_CUI:C1333459 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:11060 +name: placenta praevia +def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." [url:http\://en.wikipedia.org/wiki/Placenta_previa] +xref: ICD10CM:O44 +xref: MSH:D010923 +xref: NCI:C26858 +xref: SNOMEDCT_US_2015_03_01:157059004 +xref: SNOMEDCT_US_2015_03_01:198930005 +xref: SNOMEDCT_US_2015_03_01:36813001 +xref: UMLS_CUI:C0032046 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:1107 +name: esophageal carcinoma +def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Esophageal_cancer] +subset: DO_cancer_slim +synonym: "cancer of esophagus" EXACT [NCI2004_11_17:C3513] +synonym: "cancer of oesophagus" EXACT [SNOMEDCT_2005_07_31:93785002] +synonym: "carcinoma OF ESOPHAGUS" EXACT [MTH:NOCODE] +synonym: "carcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:255079005] +synonym: "carcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:372138000] +synonym: "carcinoma of oesophagus" EXACT [SNOMEDCT_2005_07_31:154441003] +xref: EFO:0002916 +xref: NCI:C3513 +xref: SNOMEDCT_US_2015_03_01:154441003 +xref: SNOMEDCT_US_2015_03_01:255079005 +xref: SNOMEDCT_US_2015_03_01:372138000 +xref: SNOMEDCT_US_2015_03_01:93785002 +xref: UMLS_CUI:C0152018 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:11074 +name: cyst of thyroid +synonym: "Cyst of the Thyroid gland" EXACT [NCI2004_11_17:C3667] +synonym: "Cyst of thyroid" EXACT [ICD9CM_2006:246.2] +synonym: "Cyst of thyroid (disorder)" EXACT [SNOMEDCT_2005_07_31:72325004] +synonym: "Thyroid cyst" EXACT [SNOMEDCT_2005_07_31:154669004] +is_obsolete: true + +[Term] +id: DOID:11076 +name: Brucella suis brucellosis +def: "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_a: DOID:11077 ! brucellosis + +[Term] +id: DOID:11077 +name: brucellosis +alt_id: DOID:0050060 +def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Bang's disease" RELATED [] +synonym: "Gibraltar fever" RELATED [] +synonym: "Malta fever" RELATED [] +synonym: "Maltese fever" EXACT [] +synonym: "Mediterranean fever" RELATED [] +synonym: "undulant fever" EXACT [] +xref: ICD10CM:A23 +xref: ICD10CM:A23.9 +xref: ICD9CM:023 +xref: ICD9CM:023.9 +xref: MSH:D002006 +xref: NCI:C84602 +xref: SNOMEDCT_US_2015_03_01:111804008 +xref: SNOMEDCT_US_2015_03_01:154296006 +xref: SNOMEDCT_US_2015_03_01:186310006 +xref: SNOMEDCT_US_2015_03_01:187304000 +xref: SNOMEDCT_US_2015_03_01:75702008 +xref: UMLS_CUI:C0006309 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11079 +name: leech infestation +def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream." [url:http\://en.wikipedia.org/wiki/Leech, url:http\://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057] +synonym: "Hirudiniasis" EXACT [ICD9CM_2006:134.2] +synonym: "Leech infestation (disorder)" EXACT [SNOMEDCT_2005_07_31:64351000] +synonym: "Leeches" EXACT [MTHICD9_2006:134.2] +xref: ICD10CM:B88.3 +xref: ICD9CM:134.2 +xref: SNOMEDCT_US_2015_03_01:154423006 +xref: SNOMEDCT_US_2015_03_01:266225001 +xref: SNOMEDCT_US_2015_03_01:64351000 +xref: UMLS_CUI:C0019575 +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:1108 +name: esophagus melanoma +synonym: "melanoma of esophagus" EXACT [NCI2004_11_17:C5707] +xref: NCI:C5707 +xref: UMLS_CUI:C1333460 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:11080 +name: myiasis +def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] +synonym: "Infestation by fly larvae (disorder)" EXACT [SNOMEDCT_2005_07_31:60412004] +synonym: "Infestation by maggots" EXACT [MTHICD9_2006:134.0] +synonym: "Maggot infestation" EXACT [SNOMEDCT_2005_07_31:266225001] +synonym: "Myiasis, unspecified" EXACT [SNOMEDCT_2005_07_31:187224004] +synonym: "Myiasis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187547004] +xref: ICD10CM:B87 +xref: ICD10CM:B87.9 +xref: ICD9CM:134.0 +xref: MSH:D009198 +xref: SNOMEDCT_US_2015_03_01:154423006 +xref: SNOMEDCT_US_2015_03_01:187224004 +xref: SNOMEDCT_US_2015_03_01:187547004 +xref: SNOMEDCT_US_2015_03_01:266225001 +xref: SNOMEDCT_US_2015_03_01:60412004 +xref: UMLS_CUI:C0027030 +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:11086 +name: chorioretinal scar +xref: ICD10CM:H31.0 +xref: ICD10CM:H31.00 +xref: ICD9CM:363.3 +xref: ICD9CM:363.30 +xref: SNOMEDCT_US_2015_03_01:193455005 +xref: SNOMEDCT_US_2015_03_01:193460009 +xref: SNOMEDCT_US_2015_03_01:53854005 +xref: UMLS_CUI:C0008512 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:11088 +name: asphyxia neonatorum +synonym: "Asphyxia - birth" EXACT [SNOMEDCT_2005_07_31:268873007] +synonym: "Asphyxia - birth" EXACT [SNOMEDCT_2005_07_31:157098009] +synonym: "Asphyxia NOS in liveborn infant" EXACT [MTHICD9_2006:768.9] +synonym: "Asphyxia, in liveborn infant (disorder)" EXACT [SNOMEDCT_2005_07_31:28314004] +synonym: "Birth asphyxia (disorder)" EXACT [SNOMEDCT_2005_07_31:413654009] +synonym: "Liveborn with birth asphyxia NOS" EXACT [SNOMEDCT_2005_07_31:206278008] +synonym: "Liveborn with birth asphyxia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268831004] +synonym: "postnatal asphyxia" EXACT [CSP2005:0726-3340] +synonym: "Unspecified severity of birth asphyxia in liveborn infant" EXACT [ICD9CM_2006:768.9] +xref: ICD10CM:P84 +xref: ICD9CM:768.9 +xref: MSH:D001238 +xref: SNOMEDCT_US_2015_03_01:157098009 +xref: SNOMEDCT_US_2015_03_01:206278008 +xref: SNOMEDCT_US_2015_03_01:268831004 +xref: SNOMEDCT_US_2015_03_01:268873007 +xref: SNOMEDCT_US_2015_03_01:28314004 +xref: SNOMEDCT_US_2015_03_01:413654009 +xref: UMLS_CUI:C0004045 +is_a: DOID:1579 ! respiratory system disease + +[Term] +id: DOID:1109 +name: extracutaneous melanoma +is_obsolete: true + +[Term] +id: DOID:11091 +name: perinatal respiratory disorder +synonym: "Perinatal respiratory problems NOS" EXACT [SNOMEDCT_2005_07_31:157115005] +synonym: "Perinatal respiratory problems NOS" EXACT [SNOMEDCT_2005_07_31:157108002] +synonym: "Perinatal respiratory problems NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206327004] +synonym: "respiratory condition of fetus OR newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:17849001] +synonym: "Unspecified respiratory condition of fetus and newborn" EXACT [ICD9CM_2006:770.9] +is_obsolete: true + +[Term] +id: DOID:11092 +name: Salmonella gastroenteritis +def: "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/12631900] +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Enteric paratyphosis" EXACT [SNOMEDCT_2005_07_31:170879007] +synonym: "Salmonella food poisoning" EXACT [] +synonym: "Salmonella food poisoning (disorder)" EXACT [SNOMEDCT_2005_07_31:302229004] +synonym: "Salmonella gastroenteritis" EXACT [SNOMEDCT_2005_07_31:154271008] +synonym: "Salmonella gastroenteritis" EXACT [ICD9CM_2006:003.0] +synonym: "Salmonella gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:42338000] +synonym: "Salmonella gastroenteritis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:266072007] +synonym: "Salmonellosis" EXACT [MTHICD9_2006:003.0] +synonym: "Salmonellosis (& [gastroenteritis] or [food poisoning])" EXACT [SNOMEDCT_2005_07_31:186094005] +is_obsolete: true + +[Term] +id: DOID:11093 +name: bacterial gastroenteritis +alt_id: DOID:0050128 +def: "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000254.htm] +synonym: "bacterial diarrhea" EXACT [] +synonym: "Bacterial gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:274080003] +synonym: "Gastroenteritis - bact." EXACT [SNOMEDCT_2005_07_31:154268000] +synonym: "Gastroenteritis - bact." EXACT [SNOMEDCT_2005_07_31:266173000] +is_obsolete: true + +[Term] +id: DOID:11096 +name: renal syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilis of kidney" EXACT [ICD9CM_2006:095.4] +synonym: "Syphilis of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:59530001] +is_obsolete: true + +[Term] +id: DOID:11097 +name: pulmonary syphilis +def: "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever." [url:http\://sti.bmj.com/cgi/reprint/4/4/290.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilis of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:8555001] +is_obsolete: true + +[Term] +id: DOID:11099 +name: primary Rickettsiaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:1110 +name: gastrointestinal melanoma +is_obsolete: true + +[Term] +id: DOID:11100 +name: Q fever +def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia." [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.cdc.gov/qfever/symptoms/index.html, url:http\://www.ncbi.nlm.nih.gov/pubmed/15021054] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Infection due to Coxiella burnetii (disorder)" EXACT [SNOMEDCT_2005_07_31:260588007] +xref: ICD10CM:A78 +xref: ICD9CM:083.0 +xref: MSH:D011778 +xref: NCI:C34970 +xref: SNOMEDCT_US_2015_03_01:154375001 +xref: SNOMEDCT_US_2015_03_01:186788009 +xref: SNOMEDCT_US_2015_03_01:260588007 +xref: SNOMEDCT_US_2015_03_01:266205000 +xref: SNOMEDCT_US_2015_03_01:86012006 +xref: UMLS_CUI:C0034362 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11101 +name: trench fever +def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back." [url:http\://emedicine.medscape.com/article/230294-clinical, url:http\://en.wikipedia.org/wiki/Trench_fever] +subset: gram-negative_bacterial_infectious_disease +synonym: "His-Werner disease" EXACT [] +synonym: "Quintan fever" EXACT [] +synonym: "shin bone fever" EXACT [] +synonym: "tibialgic fever" EXACT [] +synonym: "Trench fever" EXACT [ICD9CM_2006:083.1] +synonym: "Trench fever (disorder)" EXACT [SNOMEDCT_2005_07_31:82214002] +synonym: "Wolhynian fever" EXACT [MTHICD9_2006:083.1] +xref: ICD10CM:A79.0 +xref: ICD9CM:083.1 +xref: MSH:D014205 +xref: SNOMEDCT_US_2015_03_01:82214002 +xref: UMLS_CUI:C0040830 +is_a: DOID:11102 ! bartonellosis + +[Term] +id: DOID:11102 +name: bartonellosis +def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." [url:http\://en.wikipedia/org/wiki/Bartonellosis] +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +synonym: "Bartonella infectious disease" EXACT [] +synonym: "bartonelliasis" EXACT [CSP2005:2623-6984] +synonym: "Rochalimaea infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240623002] +xref: ICD10CM:A44 +xref: ICD10CM:A44.9 +xref: ICD9CM:088.0 +xref: MSH:D001474 +xref: NCI:C84586 +xref: SNOMEDCT_US_2015_03_01:17116008 +xref: SNOMEDCT_US_2015_03_01:186824002 +xref: SNOMEDCT_US_2015_03_01:187340003 +xref: SNOMEDCT_US_2015_03_01:240454008 +xref: SNOMEDCT_US_2015_03_01:240623002 +xref: SNOMEDCT_US_2015_03_01:266123003 +xref: UMLS_CUI:C0004771 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11103 +name: rickettsialpox +alt_id: DOID:0050037 +def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash." [url:http\://emedicine.medscape.com/article/227956-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Rickettsia akari spotted fever" EXACT [] +synonym: "Vesicular rickettsiosis" EXACT [MTHICD9_2006:083.2] +xref: ICD10CM:A79.1 +xref: ICD9CM:083.2 +xref: MSH:D012288 +xref: SNOMEDCT_US_2015_03_01:75096007 +xref: UMLS_CUI:C0035597 +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:11104 +name: spotted fever +def: "A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite." [url:http\://emedicine.medscape.com/article/785659-overview#a0104, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Spotted fever group rickettsial disease (disorder)" EXACT [SNOMEDCT_2005_07_31:186771002] +xref: ICD10CM:A77 +xref: ICD10CM:A77.9 +xref: ICD9CM:082.0 +xref: SNOMEDCT_US_2015_03_01:186771002 +xref: SNOMEDCT_US_2015_03_01:186773004 +xref: SNOMEDCT_US_2015_03_01:187385002 +xref: UMLS_CUI:C0038041 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11105 +name: fundus albipunctatus +def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." [url:http\://www.omim.org/entry/136880] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pigmentary retinal dystrophy" EXACT [ICD9CM_2006:362.74] +synonym: "retinitis punctata albescens " EXACT [] +xref: ICD10CM:H35.52 +xref: ICD9CM:362.74 +xref: MSH:C562733 +xref: OMIM:136880 +xref: SNOMEDCT_US_2015_03_01:68222009 +xref: UMLS_CUI:C0311338 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:11106 +name: glaucoma associated with anterior segment anomaly +synonym: "Glaucoma associated with anterior segment anomaly (disorder)" EXACT [SNOMEDCT_2005_07_31:45623002] +synonym: "Glaucoma associated with other anterior segment anomalies" EXACT [ICD9CM_2006:365.43] +is_obsolete: true + +[Term] +id: DOID:11107 +name: glaucoma associated with ocular disorder +is_obsolete: true + +[Term] +id: DOID:1111 +name: malignant neoplasm of cervical part of esophagus +synonym: "malignant neoplasm of cervical esophagus" EXACT [ICD9CM_2006:150.0] +synonym: "malignant neoplasm of cervical oesophagus" EXACT [SNOMEDCT_2005_07_31:93750002] +synonym: "malignant neoplasm of the cervical esophagus" EXACT [NCI2004_11_17:C4763] +synonym: "malignant tumor of cervical part of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:187722004] +is_obsolete: true + +[Term] +id: DOID:11110 +name: psychosexual dysfunction with female orgasmic disease +is_obsolete: true + +[Term] +id: DOID:11111 +name: hydronephrosis +xref: ICD10CM:N13.30 +xref: ICD9CM:591 +xref: MSH:D006869 +xref: NCI:C26796 +xref: SNOMEDCT_US_2015_03_01:155866001 +xref: SNOMEDCT_US_2015_03_01:197791000 +xref: SNOMEDCT_US_2015_03_01:43064006 +xref: UMLS_CUI:C0020295 +is_a: DOID:5200 ! urinary tract obstruction + +[Term] +id: DOID:11118 +name: syphilitic retrobulbar neuritis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic retrobulbar neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:36276008] +is_obsolete: true + +[Term] +id: DOID:11119 +name: Gilles de la Tourette syndrome +def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year." [url:http\://emedicine.medscape.com/article/1182258-overview, url:http\://en.wikipedia.org/wiki/Tic_disorder, url:http\://en.wikipedia.org/wiki/Tourette%27s_disorder] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Guinon's disease" EXACT [CSP2005:2042-5068] +synonym: "motor-verbal tic disorder" EXACT [MTHICD9_2006:307.23] +synonym: "Psychogenic tics" EXACT [SNOMEDCT_2005_07_31:268778009] +synonym: "Tourette syndrome" EXACT [] +xref: EFO:0004895 +xref: ICD10CM:F95.2 +xref: ICD9CM:307.23 +xref: MSH:D005879 +xref: NCI:C35078 +xref: OMIM:137580 +xref: SNOMEDCT_US_2015_03_01:154936002 +xref: SNOMEDCT_US_2015_03_01:192624004 +xref: SNOMEDCT_US_2015_03_01:268778009 +xref: SNOMEDCT_US_2015_03_01:39098006 +xref: SNOMEDCT_US_2015_03_01:5158005 +xref: UMLS_CUI:C0040517 +is_a: DOID:2769 ! tic disorder + +[Term] +id: DOID:1112 +name: neck cancer +synonym: "cancer of neck" RELATED [] +synonym: "malignant neoplasm of neck" EXACT [SNOMEDCT_2005_07_31:93922007] +synonym: "malignant neoplasm of neck NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188358006] +synonym: "malignant tumor of neck (disorder)" EXACT [SNOMEDCT_2005_07_31:363489000] +synonym: "malignant tumor of the neck" EXACT [NCI2004_11_17:C4940] +synonym: "neck cancer" EXACT [CSP2005:2005-4325] +is_obsolete: true + +[Term] +id: DOID:11120 +name: psychologic dyspareunia +synonym: "Dyspareunia, psychogenic" EXACT [ICD9CM_2006:302.76] +synonym: "Non-organic dyspareunia" EXACT [SNOMEDCT_2005_07_31:192470002] +synonym: "Psychologic dyspareunia (disorder)" EXACT [SNOMEDCT_2005_07_31:41021005] +xref: ICD10CM:F52.6 +xref: ICD9CM:302.76 +xref: SNOMEDCT_US_2015_03_01:154905005 +xref: SNOMEDCT_US_2015_03_01:192470002 +xref: SNOMEDCT_US_2015_03_01:268762007 +xref: SNOMEDCT_US_2015_03_01:41021005 +xref: UMLS_CUI:C0154466 +is_a: DOID:10132 ! psychosexual disorder + +[Term] +id: DOID:11121 +name: pulpitis +synonym: "pulpitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32620007] +synonym: "pulpitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196331007] +xref: ICD10CM:K04.0 +xref: ICD9CM:522.0 +xref: MSH:D011671 +xref: NCI:C52595 +xref: SNOMEDCT_US_2015_03_01:155638006 +xref: SNOMEDCT_US_2015_03_01:196331007 +xref: SNOMEDCT_US_2015_03_01:32620007 +xref: UMLS_CUI:C0034103 +is_a: DOID:5330 ! dental pulp disease + +[Term] +id: DOID:11123 +name: Henoch-Schoenlein purpura +synonym: "Allergic purpura" EXACT [SNOMEDCT_2005_07_31:191305009] +synonym: "Allergic purpura" EXACT [ICD9CM_2006:287.0] +synonym: "Allergic purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:21148002] +synonym: "Allergic purpura NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191308006] +synonym: "Autoimmune purpura (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:31912009] +synonym: "Henoch-Sch?nlein purpura" EXACT [SNOMEDCT_2005_07_31:246074004] +synonym: "Henoch-Sch@nlein purpura" EXACT [SNOMEDCT_2005_07_31:367437009] +synonym: "Henoch-Scholein purpura" EXACT [CSP2005:4006-0049] +synonym: "Henoch-Schonlein Purpura" EXACT [NCI2004_11_17:C34963] +synonym: "Henoch-Schonlein purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:191306005] +synonym: "Purpura, autoimmune" EXACT [MTHICD9_2006:287.0] +synonym: "Purpura: [allergic] or [Henoch-Schonlein allergy]" EXACT [SNOMEDCT_2005_07_31:154823001] +synonym: "Purpura: [allergic] or [Henoch-Schonlein allergy]" EXACT [SNOMEDCT_2005_07_31:267565009] +xref: ICD10CM:D69.0 +xref: ICD9CM:287.0 +xref: MSH:D011695 +xref: NCI:C34963 +xref: SNOMEDCT_US_2015_03_01:154823001 +xref: SNOMEDCT_US_2015_03_01:191305009 +xref: SNOMEDCT_US_2015_03_01:191306005 +xref: SNOMEDCT_US_2015_03_01:191308006 +xref: SNOMEDCT_US_2015_03_01:21148002 +xref: SNOMEDCT_US_2015_03_01:246074004 +xref: SNOMEDCT_US_2015_03_01:267565009 +xref: SNOMEDCT_US_2015_03_01:31912009 +xref: SNOMEDCT_US_2015_03_01:367437009 +xref: UMLS_CUI:C0034152 +is_a: DOID:9809 ! hypersensitivity vasculitis + +[Term] +id: DOID:11125 +name: qualitative platelet defect +synonym: "Qualitative platelet deficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191311007] +xref: ICD10CM:D69.1 +xref: ICD9CM:287.1 +xref: SNOMEDCT_US_2015_03_01:191309003 +xref: SNOMEDCT_US_2015_03_01:191311007 +xref: SNOMEDCT_US_2015_03_01:267532001 +xref: UMLS_CUI:C0235604 +is_a: DOID:2218 ! blood platelet disease + +[Term] +id: DOID:11126 +name: acquired thrombocytopenia +synonym: "acquired thrombocytopenia (disorder)" EXACT [SNOMEDCT_2005_07_31:74576004] +synonym: "secondary thrombocytopenia" EXACT [ICD9CM_2006:287.4] +synonym: "secondary thrombocytopenia" EXACT [SNOMEDCT_2005_07_31:154826009] +synonym: "secondary thrombocytopenia NOS" EXACT [SNOMEDCT_2005_07_31:191325008] +synonym: "secondary thrombocytopenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267537007] +xref: ICD10CM:D69.5 +xref: ICD9CM:287.4 +xref: SNOMEDCT_US_2015_03_01:154826009 +xref: SNOMEDCT_US_2015_03_01:191325008 +xref: SNOMEDCT_US_2015_03_01:267537007 +xref: SNOMEDCT_US_2015_03_01:74576004 +xref: UMLS_CUI:C0154301 +is_a: DOID:1588 ! thrombocytopenia + +[Term] +id: DOID:11129 +name: dislocation of ear ossicle +xref: ICD9CM:385.23 +xref: UMLS_CUI:C0155487 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:1113 +name: malignant esophageal neoplasm by anatomic region +is_obsolete: true + +[Term] +id: DOID:11130 +name: secondary hypertension +xref: ICD10CM:I15 +xref: ICD10CM:I15.9 +xref: ICD9CM:405 +xref: ICD9CM:405.9 +xref: NCI:C3657 +xref: SNOMEDCT_US_2015_03_01:155300002 +xref: SNOMEDCT_US_2015_03_01:194789002 +xref: SNOMEDCT_US_2015_03_01:194792003 +xref: SNOMEDCT_US_2015_03_01:31992008 +xref: UMLS_CUI:C0155616 +is_a: DOID:10763 ! hypertension + +[Term] +id: DOID:11132 +name: prostatic hypertrophy +is_a: DOID:47 ! prostate disease + +[Term] +id: DOID:11133 +name: prostatic cyst +synonym: "Cyst of prostate" EXACT [ICD9CM_2006:600.3] +synonym: "Prostatic cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:409658007] +xref: ICD10CM:N42.83 +xref: ICD9CM:600.3 +xref: SNOMEDCT_US_2015_03_01:409658007 +xref: UMLS_CUI:C1443972 +is_a: DOID:11132 ! prostatic hypertrophy + +[Term] +id: DOID:11134 +name: prolapse of lacrimal gland +synonym: "Dislocation of lacrimal gland" EXACT [ICD9CM_2006:375.16] +synonym: "Dislocation of lacrimal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:84777002] +xref: ICD10CM:H04.16 +xref: ICD9CM:375.16 +xref: SNOMEDCT_US_2015_03_01:84777002 +xref: UMLS_CUI:C0155231 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:1114 +name: esophagus sarcoma +def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus." [url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.google.com/search?hl=en&client=firefox-a&hs=X3f&rls=org.mozilla\:en-US\:official&ei=wxHfS4jAC4a8NualnMwH&sa=X&oi=spell&resnum=0&ct=result&cd=1&ved=0CA0QBSgA&q=esophageal+sarcoma&spell=1] +synonym: "esophageal sarcoma" RELATED [] +xref: NCI:C5341 +xref: UMLS_CUI:C1333466 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:11144 +name: anthrax septicemia +subset: GOLD +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Anthrax septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:14972006] +is_obsolete: true + +[Term] +id: DOID:11145 +name: Pars plana primary cyst +synonym: "primary cyst of pars plana" EXACT [ICD9CM_2006:364.63] +synonym: "primary cyst of pars plana (disorder)" EXACT [SNOMEDCT_2005_07_31:47269005] +is_obsolete: true + +[Term] +id: DOID:11147 +name: vascular lesions of cord complicating labor and delivery +alt_id: DOID:11146 +alt_id: DOID:14083 +synonym: "antepartum vascular lesions of cord complicating labor and delivery" EXACT [] +synonym: "vascular lesions of cord complicating labor and delivery, delivered" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11148 +name: hypersecretion glaucoma +synonym: "hypersecretion glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:29369005] +xref: ICD10CM:H40.82 +xref: ICD9CM:365.81 +xref: SNOMEDCT_US_2015_03_01:29369005 +xref: UMLS_CUI:C0154968 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:11149 +name: aqueous misdirection +xref: ICD10CM:H40.83 +xref: ICD9CM:365.83 +xref: UMLS_CUI:C1135189 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:1115 +name: sarcoma +alt_id: DOID:3936 +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm." [url:http\://cancergenome.nih.gov/cancersselected/Sarcoma, url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.cancer.gov/dictionary?CdrID=45562] +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +synonym: "connective and soft tissue neoplasm" EXACT [] +synonym: "tumor of soft tissue and skeleton" EXACT [NCI2004_11_17:C3810] +xref: ICD10CM:C49 +xref: ICD9CM:171 +xref: ICD9CM:171.9 +xref: SNOMEDCT_US_2015_03_01:187985009 +xref: SNOMEDCT_US_2015_03_01:93765001 +xref: UMLS_CUI:C0153519 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:11150 +name: glaucoma due to raised episcleral venous pressure +synonym: "Glaucoma with increased episcleral venous pressure" EXACT [ICD9CM_2006:365.82] +synonym: "Glaucoma with increased episcleral venous pressure (disorder)" EXACT [SNOMEDCT_2005_07_31:34623005] +is_obsolete: true + +[Term] +id: DOID:11151 +name: cholecystolithiasis +xref: MSH:D041761 +xref: NCI:C34443 +xref: SNOMEDCT_US_2015_03_01:197376000 +xref: SNOMEDCT_US_2015_03_01:235919008 +xref: SNOMEDCT_US_2015_03_01:266541001 +xref: SNOMEDCT_US_2015_03_01:44900007 +xref: UMLS_CUI:C0947622 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:11153 +name: miliaria rubra +synonym: "Miliaria crystallina (disorder)" EXACT [SNOMEDCT_2005_07_31:44279002] +synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:156415007] +synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:201194007] +synonym: "Miliaria rubra" EXACT [SNOMEDCT_2005_07_31:267813002] +synonym: "Prickly heat" EXACT [ICD9CM_2006:705.1] +synonym: "Prickly heat (disorder)" EXACT [SNOMEDCT_2005_07_31:72658003] +synonym: "Prickly heat - miliaria" EXACT [SNOMEDCT_2005_07_31:201190003] +synonym: "Prickly heat NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201197000] +synonym: "Sudamina" EXACT [MTHICD9_2006:705.1] +xref: ICD10CM:L74.0 +xref: ICD10CM:L74.2 +xref: ICD9CM:705.1 +xref: MSH:D008883 +xref: SNOMEDCT_US_2015_03_01:156415007 +xref: SNOMEDCT_US_2015_03_01:201190003 +xref: SNOMEDCT_US_2015_03_01:201194007 +xref: SNOMEDCT_US_2015_03_01:201197000 +xref: SNOMEDCT_US_2015_03_01:267813002 +xref: SNOMEDCT_US_2015_03_01:44279002 +xref: SNOMEDCT_US_2015_03_01:72658003 +xref: UMLS_CUI:C0162423 +is_a: DOID:1382 ! miliaria + +[Term] +id: DOID:11155 +name: hypohidrosis +synonym: "Hypohidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:45004005] +synonym: "Oligohidrosis" EXACT [MTHICD9_2006:705.0] +synonym: "Oligohidrosis" EXACT [SNOMEDCT_2005_07_31:201189007] +xref: ICD10CM:L74.4 +xref: MSH:D007007 +xref: NCI:C34718 +xref: SNOMEDCT_US_2015_03_01:201189007 +xref: SNOMEDCT_US_2015_03_01:45004005 +xref: UMLS_CUI:C0020620 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:11156 +name: anhidrosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "absence of sweating (finding)" EXACT [SNOMEDCT_2005_07_31:14662005] +synonym: "Adiaphoresis" EXACT [NCI2004_11_17:C34385] +synonym: "Anhidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:39659002] +xref: ICD10CM:L74.4 +xref: ICD9CM:705.0 +xref: MSH:D007007 +xref: NCI:C34385 +xref: OMIM:206600 +xref: SNOMEDCT_US_2015_03_01:14662005 +xref: SNOMEDCT_US_2015_03_01:156414006 +xref: SNOMEDCT_US_2015_03_01:201189007 +xref: SNOMEDCT_US_2015_03_01:39659002 +xref: UMLS_CUI:C0003028 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:11158 +name: disorder of optic chiasm associated with non-pituitary neoplasm +synonym: "disorder of optic chiasm associated with non-pituitary neoplasm (disorder)" EXACT [SNOMEDCT_2005_07_31:64246009] +synonym: "disorder of optic chiasm associated with other neoplasm" EXACT [ICD9CM_2006:377.52] +is_obsolete: true + +[Term] +id: DOID:1116 +name: pertussis +alt_id: DOID:11333 +alt_id: DOID:11751 +def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)." [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800] +subset: gram-negative_bacterial_infectious_disease +synonym: "bordetella infection" EXACT [] +synonym: "WC - Whooping cough" EXACT [SNOMEDCT_2005_07_31:27836007] +synonym: "whooping cough" EXACT [CSP2005:0368-3326] +xref: KEGG:05133 +xref: MSH:D001885 +xref: SNOMEDCT_US_2015_03_01:26484003 +xref: UMLS_CUI:C0006015 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:11161 +name: neonatal respiratory failure +synonym: "Neonatal respiratory failure (disorder)" EXACT [SNOMEDCT_2005_07_31:95619009] +synonym: "respiratory failure of newborn" EXACT [SNOMEDCT_2005_07_31:206317005] +synonym: "respiratory failure of newborn" EXACT [ICD9CM_2006:770.84] +xref: ICD10CM:P28.5 +xref: ICD9CM:770.84 +xref: SNOMEDCT_US_2015_03_01:206317005 +xref: SNOMEDCT_US_2015_03_01:95619009 +xref: UMLS_CUI:C0521648 +is_a: DOID:11162 ! respiratory failure + +[Term] +id: DOID:11162 +name: respiratory failure +alt_id: DOID:11391 +alt_id: DOID:11392 +alt_id: DOID:11393 +def: "A lung disease characterized by inadequate gas exchange by the respiratory system." [url:http\://en.wikipedia.org/wiki/Respiratory_failure] +synonym: "acute and chronic respiratory failure" EXACT [ICD9CM_2006:518.84] +synonym: "acute respiratory Failure" EXACT [NCI2004_11_17:C27043] +synonym: "acute-on-chronic respiratory failure (disorder)" EXACT [SNOMEDCT_2005_07_31:67905004] +synonym: "chronic respiratory failure" EXACT [] +synonym: "respiratory insufficiency/failure" EXACT [CSP2005:2596-8662] +xref: ICD10CM:J96.0 +xref: ICD9CM:518.81 +xref: NCI:C27043 +xref: SNOMEDCT_US_2015_03_01:65710008 +xref: UMLS_CUI:C0264490 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:11163 +name: apnea of prematurity +synonym: "primary apnea of newborn" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11164 +name: band keratopathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Band-shaped keratopathy" EXACT [ICD9CM_2006:371.43] +synonym: "Band-shaped keratopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:35055000] +xref: ICD10CM:H18.42 +xref: ICD9CM:371.43 +xref: MSH:C562399 +xref: OMIM:217500 +xref: SNOMEDCT_US_2015_03_01:35055000 +xref: UMLS_CUI:C0155120 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:11165 +name: common wart +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Wart] +xref: ICD10CM:B07 +xref: ICD10CM:B07.8 +xref: ICD9CM:078.1 +xref: MSH:D014860 +xref: NCI:C27087 +xref: NCI:C5028 +xref: SNOMEDCT_US_2015_03_01:123201004 +xref: SNOMEDCT_US_2015_03_01:154361008 +xref: SNOMEDCT_US_2015_03_01:186685000 +xref: SNOMEDCT_US_2015_03_01:186686004 +xref: SNOMEDCT_US_2015_03_01:266198004 +xref: SNOMEDCT_US_2015_03_01:30285000 +xref: SNOMEDCT_US_2015_03_01:367507002 +xref: SNOMEDCT_US_2015_03_01:57019003 +xref: SNOMEDCT_US_2015_03_01:75003008 +xref: UMLS_CUI:C0043037 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11166 +name: papillomavirus infectious disease +alt_id: DOID:4146 +def: "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." [url:http\://emedicine.medscape.com/article/219110-overview] +synonym: "Human papilloma Virus Infection" EXACT [NCI2004_11_17:C27851] +synonym: "Human papilloma virus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240532009] +synonym: "Human papilloma virus infection, NOS" EXACT [SNOMEDCT_2005_07_31:367507002, SNOMEDCT_2005_07_31:75003008] +synonym: "human papilloma virus infectious disease" EXACT [] +synonym: "Tumor Virus Infections" RELATED [] +is_obsolete: true + +[Term] +id: DOID:11167 +name: uterine cervix condylomata acuminata +def: "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts." [url:http\://emedicine.medscape.com/article/781735-overview] +subset: sexually_transmitted_infectious_disease +synonym: "Condyloma of the Cervix Uteri" EXACT [NCI2004_11_17:C8421] +is_obsolete: true + +[Term] +id: DOID:11168 +name: anogenital venereal wart +alt_id: DOID:7877 +def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194d.html] +subset: sexually_transmitted_infectious_disease +synonym: "Anogenital Human papilloma Virus Infectious Disease" EXACT [NCI2004_11_17:C4820] +synonym: "Anogenital warts (disorder)" EXACT [SNOMEDCT_2005_07_31:240542006] +synonym: "Condyloma acuminatum" RELATED [ICD9CM_2006:078.11] +synonym: "genital wart virus infectious disease" EXACT [] +synonym: "Genital warts" EXACT [SNOMEDCT_2005_07_31:154365004] +synonym: "venereal wart" EXACT [CSP2005:2020-4312] +xref: ICD10CM:A63.0 +xref: ICD9CM:078.11 +xref: MSH:D003218 +xref: NCI:C2960 +xref: NCI:C4820 +xref: SNOMEDCT_US_2015_03_01:123157002 +xref: SNOMEDCT_US_2015_03_01:154361008 +xref: SNOMEDCT_US_2015_03_01:154365004 +xref: SNOMEDCT_US_2015_03_01:186688003 +xref: SNOMEDCT_US_2015_03_01:22020001 +xref: SNOMEDCT_US_2015_03_01:240542006 +xref: SNOMEDCT_US_2015_03_01:266113007 +xref: SNOMEDCT_US_2015_03_01:266198004 +xref: SNOMEDCT_US_2015_03_01:302812006 +xref: UMLS_CUI:C0009663 +xref: UMLS_CUI:C0554632 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11169 +name: vaginal condylomata acuminata +def: "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts." [url:http\://emedicine.medscape.com/article/781735-overview] +subset: sexually_transmitted_infectious_disease +synonym: "vaginal Condyloma Acuminatum" EXACT [NCI2004_11_17:C4947] +is_obsolete: true + +[Term] +id: DOID:11170 +name: vulvar condylomata acuminata +def: "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts." [url:http\://emedicine.medscape.com/article/781735-overview] +subset: sexually_transmitted_infectious_disease +synonym: "Condyloma acuminata of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:237110007] +synonym: "Vulvar Condyloma" EXACT [NCI2004_11_17:C4382] +is_obsolete: true + +[Term] +id: DOID:11171 +name: urethral condylomata acuminata +def: "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts." [url:http\://emedicine.medscape.com/article/781735-overview] +subset: sexually_transmitted_infectious_disease +synonym: "urethral Condylomata" EXACT [NCI2004_11_17:C6169] +is_obsolete: true + +[Term] +id: DOID:11172 +name: anal condylomata acuminata +def: "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts." [url:http\://emedicine.medscape.com/article/781735-overview] +subset: sexually_transmitted_infectious_disease +synonym: "Condylomata of anus" EXACT [NCI2004_11_17:C4054] +is_obsolete: true + +[Term] +id: DOID:11175 +name: enophthalmos +synonym: "Enophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:80093006] +synonym: "Enophthalmos NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194031000] +synonym: "Enophthalmos, unspecified as to cause" EXACT [ICD9CM_2006:376.50] +xref: ICD10CM:H05.4 +xref: ICD10CM:H05.40 +xref: ICD9CM:376.5 +xref: ICD9CM:376.50 +xref: MSH:D015841 +xref: NCI:C79552 +xref: SNOMEDCT_US_2015_03_01:155200004 +xref: SNOMEDCT_US_2015_03_01:194031000 +xref: SNOMEDCT_US_2015_03_01:267746003 +xref: SNOMEDCT_US_2015_03_01:80093006 +xref: UMLS_CUI:C0014306 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:11177 +name: total internal ophthalmoplegia +synonym: "Total internal ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:86266009] +synonym: "Total or complete internal ophthalmoplegia" EXACT [ICD9CM_2006:367.52] +xref: ICD9CM:367.52 +xref: SNOMEDCT_US_2015_03_01:193630009 +xref: SNOMEDCT_US_2015_03_01:86266009 +xref: UMLS_CUI:C0152197 +is_a: DOID:10034 ! eye accommodation disease +is_a: DOID:238 ! pupil disease + +[Term] +id: DOID:11179 +name: otitis media with effusion +def: "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] +synonym: "Glue ear" EXACT [MTHICD9_2006:381.2] +synonym: "Glue ear" EXACT [SNOMEDCT_2005_07_31:194251006] +synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:62450001] +synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:155220003] +synonym: "Mucoid otitis media" EXACT [SNOMEDCT_2005_07_31:267754001] +synonym: "Mucoid otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194264007] +synonym: "Otitis media with effusion" EXACT [SNOMEDCT_2005_07_31:232255003] +synonym: "Otitis media with effusion - mucoid" EXACT [SNOMEDCT_2005_07_31:78868004] +synonym: "Otitis media, transudative" EXACT [MTHICD9_2006:381.4] +synonym: "Secretory Otitis Media" EXACT [NCI2004_11_17:C34886] +synonym: "Transudative otitis media" EXACT [SNOMEDCT_2005_07_31:43481006] +is_obsolete: true + +[Term] +id: DOID:11180 +name: non-suppurative otitis media +def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] +synonym: "Non supp. otitis media" EXACT [SNOMEDCT_2005_07_31:267753007] +synonym: "Non-suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:275481002] +synonym: "Non-suppurative otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194265008] +synonym: "Nonsuppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:45935001] +synonym: "Nonsuppurative otitis media, not specified as acute or chronic" EXACT [ICD9CM_2006:381.4] +synonym: "Unspecified non-suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:194260003] +xref: ICD10CM:H65 +xref: ICD10CM:H65.9 +xref: ICD10CM:H65.90 +xref: ICD9CM:381.4 +xref: SNOMEDCT_US_2015_03_01:194260003 +xref: SNOMEDCT_US_2015_03_01:194265008 +xref: SNOMEDCT_US_2015_03_01:267753007 +xref: SNOMEDCT_US_2015_03_01:275481002 +xref: SNOMEDCT_US_2015_03_01:45935001 +xref: UMLS_CUI:C0271446 +is_a: DOID:10754 ! otitis media + +[Term] +id: DOID:11181 +name: serous glue ear +def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] +xref: ICD10CM:H65.2 +xref: ICD10CM:H65.20 +xref: ICD9CM:381.1 +xref: SNOMEDCT_US_2015_03_01:155219009 +xref: SNOMEDCT_US_2015_03_01:194245001 +xref: SNOMEDCT_US_2015_03_01:194250007 +xref: SNOMEDCT_US_2015_03_01:81564005 +xref: UMLS_CUI:C0155421 +is_a: DOID:11180 ! non-suppurative otitis media + +[Term] +id: DOID:11182 +name: chronic otitis media with effusion +def: "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] +is_obsolete: true + +[Term] +id: DOID:11183 +name: Haemophilus influenzae septicemia +subset: gram-negative_bacterial_infectious_disease +synonym: "Hemophilus influenzae septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:23863009] +synonym: "Septicemia due to H. influenzae" EXACT [MTHICD9_2006:038.41] +synonym: "Septicemia due to hemophilus influenzae [H. influenzae]" EXACT [ICD9CM_2006:038.41] +is_obsolete: true + +[Term] +id: DOID:11184 +name: acute conjunctivitis +xref: ICD10CM:H10.02 +xref: ICD9CM:372.03 +xref: UMLS_CUI:C0029668 +is_a: DOID:6195 ! conjunctivitis + +[Term] +id: DOID:11186 +name: allescheriosis +def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses." [url:http\://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/934264] +synonym: "Allescheriosis (disorder)" EXACT [SNOMEDCT_2005_07_31:80936003] +synonym: "Allescheriosis [Petriellidosis]" EXACT [ICD9CM_2006:117.6] +synonym: "Petriellidosis" EXACT [MTHICD9_2006:117.6] +xref: ICD10CM:B48.2 +xref: ICD9CM:117.6 +xref: SNOMEDCT_US_2015_03_01:80936003 +xref: UMLS_CUI:C0153285 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:11189 +name: pulp degeneration +xref: ICD10CM:K04.2 +xref: ICD9CM:522.2 +xref: NCI:C34962 +xref: SNOMEDCT_US_2015_03_01:196335003 +xref: SNOMEDCT_US_2015_03_01:22361007 +xref: UMLS_CUI:C0034100 +is_a: DOID:5330 ! dental pulp disease + +[Term] +id: DOID:1119 +name: large for dates affecting management of mother +alt_id: DOID:10214 +alt_id: DOID:1118 +synonym: "antepartum excessive fetal growth affecting management of mother" EXACT [] +synonym: "Excessive fetal growth affecting management of mother, delivered" EXACT [] +synonym: "Excessive fetal growth, affecting management of mother, antepartum" EXACT [ICD9CM_2006:656.63] +synonym: "Excessive fetal growth, affecting management of mother, delivered" EXACT [ICD9CM_2006:656.61] +is_obsolete: true + +[Term] +id: DOID:11190 +name: pseudomembranous conjunctivitis +def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid." [url:http\://bjo.bmj.com/content/55/5/312.full.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/9400798] +synonym: "Pseudomembranous Conjunctivitis" EXACT [NCI2004_11_17:C35196] +synonym: "Pseudomembranous conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:72115001] +xref: ICD10CM:H10.22 +xref: ICD9CM:372.04 +xref: NCI:C35196 +xref: SNOMEDCT_US_2015_03_01:193862009 +xref: SNOMEDCT_US_2015_03_01:267643002 +xref: SNOMEDCT_US_2015_03_01:72115001 +xref: UMLS_CUI:C0155144 +is_a: DOID:11184 ! acute conjunctivitis + +[Term] +id: DOID:11193 +name: syndactyly +def: "A synostosis that results_in the fusion of two or more digits." [url:http\://emedicine.medscape.com/article/1244420-overview, url:http\://en.wikipedia.org/wiki/Syndactyly, url:http\://www.hmc.psu.edu/healthinfo/pq/poly.htm, url:http\://www.wheelessonline.com/ortho/syndactyly] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "chromosome 2q35 duplication syndrome" EXACT [OMIM:185900] +synonym: "symphalangism" EXACT [SNOMEDCT_2005_07_31:253975004] +synonym: "symphalangy (disorder)" EXACT [SNOMEDCT_2005_07_31:75352001] +synonym: "webbing of digits" EXACT [MTHICD9_2006:755.1] +xref: ICD10CM:Q70 +xref: ICD10CM:Q70.9 +xref: ICD9CM:755.1 +xref: MSH:D013576 +xref: NCI:C87125 +xref: OMIM:185900 +xref: OMIM:186100 +xref: OMIM:186200 +xref: OMIM:186300 +xref: ORDO:295012 +xref: ORDO:90025 +xref: ORDO:93402 +xref: ORDO:93403 +xref: ORDO:93404 +xref: ORDO:93406 +xref: SNOMEDCT_US_2015_03_01:111313001 +xref: SNOMEDCT_US_2015_03_01:156989004 +xref: SNOMEDCT_US_2015_03_01:205151006 +xref: SNOMEDCT_US_2015_03_01:253975004 +xref: SNOMEDCT_US_2015_03_01:268252004 +xref: SNOMEDCT_US_2015_03_01:373413006 +xref: SNOMEDCT_US_2015_03_01:75352001 +xref: UMLS_CUI:C0039075 +is_a: DOID:11971 ! synostosis + +[Term] +id: DOID:11195 +name: acute laryngopharyngitis +def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis] +synonym: "acute laryngopharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:55355000] +xref: ICD10CM:J06.0 +xref: ICD9CM:465.0 +xref: SNOMEDCT_US_2015_03_01:55355000 +xref: UMLS_CUI:C0155817 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:11197 +name: serous conjunctivitis except viral +synonym: "serous conjunctivitis, except viral (disorder)" EXACT [SNOMEDCT_2005_07_31:9824006] +xref: ICD10CM:H10.23 +xref: ICD9CM:372.01 +xref: SNOMEDCT_US_2015_03_01:9824006 +xref: UMLS_CUI:C0155142 +is_a: DOID:11184 ! acute conjunctivitis + +[Term] +id: DOID:11198 +name: DiGeorge syndrome +def: "A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production." [url:http\://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "DiGeorge sequence (disorder)" EXACT [SNOMEDCT_2005_07_31:77128003] +synonym: "DiGeorge's syndrome" EXACT [NCI2004_11_17:C2989] +synonym: "Pharyngeal pouch syndrome" EXACT [MTHICD9_2006:279.11] +xref: ICD10CM:D82.1 +xref: ICD9CM:279.11 +xref: MSH:D004062 +xref: NCI:C2989 +xref: OMIM:188400 +xref: SNOMEDCT_US_2015_03_01:190991007 +xref: SNOMEDCT_US_2015_03_01:77128003 +xref: UMLS_CUI:C0012236 +is_a: DOID:11200 ! T cell deficiency + +[Term] +id: DOID:11199 +name: hypoparathyroidism +def: "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood." [url:http\://en.wikipedia.org/wiki/Hypoparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hypoparathyroidism, url:http\://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:E20 +xref: ICD10CM:E20.9 +xref: ICD9CM:252.1 +xref: MSH:D007011 +xref: NCI:C78350 +xref: OMIM:146200 +xref: OMIM:307700 +xref: ORDO:2238 +xref: SNOMEDCT_US_2015_03_01:154697005 +xref: SNOMEDCT_US_2015_03_01:190457001 +xref: SNOMEDCT_US_2015_03_01:267479004 +xref: SNOMEDCT_US_2015_03_01:36976004 +xref: UMLS_CUI:C0020626 +is_a: DOID:11201 ! parathyroid gland disease + +[Term] +id: DOID:112 +name: esophageal varix +alt_id: DOID:111 +alt_id: DOID:13536 +alt_id: DOID:14031 +synonym: "Bleeding esophageal varices" EXACT [] +synonym: "Bleeding esophageal varices (disorder)" EXACT [SNOMEDCT_2005_07_31:17709002] +synonym: "Bleeding oesophageal varices" EXACT [SNOMEDCT_2005_07_31:236067006] +synonym: "esophageal varices" EXACT [] +synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [ICD9CM_2006:456.20] +synonym: "esophageal varices with bleeding" EXACT [ICD9CM_2006:456.0] +synonym: "esophageal varices with bleeding in disease EC (disorder)" EXACT [SNOMEDCT_2005_07_31:195475003] +synonym: "esophageal varices without bleeding" EXACT [] +synonym: "esophageal varices without bleeding (disorder)" EXACT [SNOMEDCT_2005_07_31:14223005] +synonym: "esophageal varices without mention of bleeding" EXACT [ICD9CM_2006:456.1] +xref: ICD10CM:I85.01 +xref: ICD9CM:456.0 +xref: ICD9CM:456.2 +xref: ICD9CM:456.20 +xref: NCI:C78282 +xref: SNOMEDCT_US_2015_03_01:17709002 +xref: SNOMEDCT_US_2015_03_01:195474004 +xref: SNOMEDCT_US_2015_03_01:195475003 +xref: SNOMEDCT_US_2015_03_01:195479009 +xref: SNOMEDCT_US_2015_03_01:195643006 +xref: SNOMEDCT_US_2015_03_01:236067006 +xref: UMLS_CUI:C0155789 +xref: UMLS_CUI:C0155791 +xref: UMLS_CUI:C0155792 +is_a: DOID:866 ! vein disease + +[Term] +id: DOID:11200 +name: T cell deficiency +xref: NCI:C27872 +xref: UMLS_CUI:C1333147 +is_a: DOID:612 ! primary immunodeficiency disease + +[Term] +id: DOID:11201 +name: parathyroid gland disease +def: "An endocrine system disease that is located_in the parathyroid gland." [url:http\://en.wikipedia.org/wiki/Parathyroid_disease] +synonym: "disease of parathyroid glands" EXACT [] +xref: ICD10CM:E21.5 +xref: ICD9CM:252 +xref: ICD9CM:252.9 +xref: MSH:D010279 +xref: NCI:C26844 +xref: SNOMEDCT_US_2015_03_01:190462000 +xref: SNOMEDCT_US_2015_03_01:267478007 +xref: SNOMEDCT_US_2015_03_01:73132005 +xref: UMLS_CUI:C0030517 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:11202 +name: primary hyperparathyroidism +alt_id: DOID:14790 +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial benign hypercalcemia (disorder)" EXACT [SNOMEDCT_2005_07_31:190868007] +synonym: "familial primary hyperparathyroidism" EXACT [] +synonym: "primary hyperparathyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:36348003] +xref: ICD10CM:E21.0 +xref: ICD9CM:252.01 +xref: MSH:D049950 +xref: NCI:C48280 +xref: OMIM:600166 +xref: ORDO:99878 +xref: SNOMEDCT_US_2015_03_01:190452007 +xref: SNOMEDCT_US_2015_03_01:237653008 +xref: SNOMEDCT_US_2015_03_01:36348003 +xref: SNOMEDCT_US_2015_03_01:54920000 +xref: UMLS_CUI:C0221002 +xref: UMLS_CUI:C0271846 +is_a: DOID:13543 ! hyperparathyroidism + +[Term] +id: DOID:11203 +name: Angelucci's syndrome +synonym: "acute Atopic Conjunctivitis" EXACT [NCI2004_11_17:C34353] +synonym: "acute atopic conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193863004] +synonym: "acute atopic conjunctivitis" EXACT [ICD9CM_2006:372.05] +synonym: "acute atopic conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:67678004] +synonym: "Angelucci syndrome" EXACT [] +xref: ICD10CM:H10.1 +xref: ICD9CM:372.05 +xref: NCI:C34353 +xref: SNOMEDCT_US_2015_03_01:193863004 +xref: SNOMEDCT_US_2015_03_01:67678004 +xref: UMLS_CUI:C0001309 +is_a: DOID:11204 ! allergic conjunctivitis + +[Term] +id: DOID:11204 +name: allergic conjunctivitis +def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_conjunctivitis] +xref: MSH:D003233 +xref: NCI:C34506 +xref: SNOMEDCT_US_2015_03_01:155168003 +xref: SNOMEDCT_US_2015_03_01:193868008 +xref: SNOMEDCT_US_2015_03_01:20212001 +xref: SNOMEDCT_US_2015_03_01:231854006 +xref: SNOMEDCT_US_2015_03_01:473460002 +xref: UMLS_CUI:C0009766 +is_a: DOID:2475 ! chronic conjunctivitis + +[Term] +id: DOID:11206 +name: opioid abuse +def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Opioid] +xref: ICD10CM:F11.1 +xref: ICD9CM:305.5 +xref: SNOMEDCT_US_2015_03_01:5602001 +xref: UMLS_CUI:C0029095 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:11211 +name: buphthalmos +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "simple buphthalmos" EXACT [SNOMEDCT_2005_07_31:268157004] +xref: ICD9CM:743.21 +xref: OMIM:231300 +xref: SNOMEDCT_US_2015_03_01:13832009 +xref: SNOMEDCT_US_2015_03_01:204116009 +xref: SNOMEDCT_US_2015_03_01:268157004 +xref: UMLS_CUI:C0311251 +is_a: DOID:11212 ! hydrophthalmos + +[Term] +id: DOID:11212 +name: hydrophthalmos +xref: ICD10CM:Q15.0 +xref: ICD9CM:743.2 +xref: ICD9CM:743.20 +xref: MSH:D006871 +xref: NCI:C50648 +xref: SNOMEDCT_US_2015_03_01:13832009 +xref: SNOMEDCT_US_2015_03_01:156898000 +xref: SNOMEDCT_US_2015_03_01:204111004 +xref: SNOMEDCT_US_2015_03_01:204112006 +xref: SNOMEDCT_US_2015_03_01:204113001 +xref: SNOMEDCT_US_2015_03_01:204114007 +xref: SNOMEDCT_US_2015_03_01:204115008 +xref: SNOMEDCT_US_2015_03_01:204121007 +xref: SNOMEDCT_US_2015_03_01:392368005 +xref: SNOMEDCT_US_2015_03_01:392371002 +xref: SNOMEDCT_US_2015_03_01:413728006 +xref: UMLS_CUI:C0020302 +is_a: DOID:0050593 ! primary congenital glaucoma + +[Term] +id: DOID:11213 +name: acute contagious conjunctivitis +synonym: "acute contagious conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:240066005] +synonym: "Contagious opthalmia" EXACT [SNOMEDCT_2005_07_31:399047004] +synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:267734002] +synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:155162002] +synonym: "Pinkeye" EXACT [SNOMEDCT_2005_07_31:399219006] +synonym: "Pinkeye" EXACT [NCI2004_11_17:C35704] +xref: NCI:C35704 +xref: SNOMEDCT_US_2015_03_01:155162002 +xref: SNOMEDCT_US_2015_03_01:17482009 +xref: SNOMEDCT_US_2015_03_01:240066005 +xref: SNOMEDCT_US_2015_03_01:267734002 +xref: SNOMEDCT_US_2015_03_01:399047004 +xref: SNOMEDCT_US_2015_03_01:399219006 +xref: UMLS_CUI:C1313983 +is_a: DOID:11184 ! acute conjunctivitis + +[Term] +id: DOID:11215 +name: premature rupture of the fetal membranes +alt_id: DOID:12565 +alt_id: DOID:14540 +synonym: "antepartum premature rupture of membranes" EXACT [] +synonym: "delivered premature rupture of membranes" EXACT [] +synonym: "Premature rupture of membranes - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199658006] +is_obsolete: true + +[Term] +id: DOID:11217 +name: chronic tympanitis +synonym: "chronic myringitis without mention of otitis media" EXACT [ICD9CM_2006:384.1] +synonym: "chronic tympanitis (disorder)" EXACT [SNOMEDCT_2005_07_31:89723004] +xref: ICD10CM:H73.1 +xref: ICD10CM:H73.10 +xref: ICD9CM:384.1 +xref: SNOMEDCT_US_2015_03_01:89723004 +xref: UMLS_CUI:C0395849 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:11219 +name: conjunctival folliculosis +synonym: "acute follicular conjunctivitis" EXACT [ICD9CM_2006:372.02] +synonym: "acute follicular conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:41308008] +xref: ICD10CM:H10.01 +xref: ICD9CM:372.02 +xref: SNOMEDCT_US_2015_03_01:41308008 +xref: UMLS_CUI:C0155143 +is_a: DOID:11184 ! acute conjunctivitis + +[Term] +id: DOID:1122 +name: spinal enthesopathy +synonym: "Spinal enthesopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:10317009] +is_obsolete: true + +[Term] +id: DOID:11223 +name: small intestine diverticulitis +alt_id: DOID:11224 +synonym: "Diverticulosis of small intestine with hemorrhage" EXACT [] +xref: ICD9CM:562.02 +xref: SNOMEDCT_US_2015_03_01:435061000124102 +xref: UMLS_CUI:C0156164 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:11227 +name: acute hemorrhagic conjunctivitis +def: "A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm, url:http\://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm, url:http\://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf] +synonym: "Apollo disease" EXACT [MTHICD9_2006:077.4] +synonym: "Epidemic hemorrhagic conjunctivitis" EXACT [ICD9CM_2006:077.4] +synonym: "viral conjunctivitis" RELATED [] +xref: ICD9CM:077.4 +xref: MSH:D003232 +xref: NCI:C34505 +xref: SNOMEDCT_US_2015_03_01:186677009 +xref: SNOMEDCT_US_2015_03_01:31502007 +xref: SNOMEDCT_US_2015_03_01:398264003 +xref: SNOMEDCT_US_2015_03_01:398273006 +xref: UMLS_CUI:C0009765 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:1123 +name: spondyloarthropathy +synonym: "spondarthropathy" EXACT [SNOMEDCT_2005_07_31:359173000] +synonym: "spondylarthrosis" EXACT [] +xref: MSH:D025242 +xref: OMIM:106300 +xref: SNOMEDCT_US_2015_03_01:357182002 +xref: SNOMEDCT_US_2015_03_01:359173000 +xref: SNOMEDCT_US_2015_03_01:372109003 +xref: SNOMEDCT_US_2015_03_01:8847002 +xref: UMLS_CUI:C0949691 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:11230 +name: acute orbital inflammation +synonym: "acute inflammation of orbit" EXACT [ICD9CM_2006:376.0] +synonym: "acute inflammation of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:20551005] +synonym: "acute inflammation of orbit NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194006001] +synonym: "acute inflammation of orbit, unspecified" EXACT [ICD9CM_2006:376.00] +synonym: "Unspecified acute orbit inflammation (disorder)" EXACT [SNOMEDCT_2005_07_31:194004003] +xref: ICD10CM:H05.0 +xref: ICD10CM:H05.00 +xref: ICD9CM:376.0 +xref: ICD9CM:376.00 +xref: SNOMEDCT_US_2015_03_01:194004003 +xref: SNOMEDCT_US_2015_03_01:194006001 +xref: SNOMEDCT_US_2015_03_01:20551005 +xref: UMLS_CUI:C0155256 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:11231 +name: orbital periostitis +synonym: "orbital periostitis (disorder)" EXACT [SNOMEDCT_2005_07_31:65974003] +xref: ICD10CM:H05.03 +xref: ICD9CM:376.02 +xref: SNOMEDCT_US_2015_03_01:65974003 +xref: UMLS_CUI:C0155257 +is_a: DOID:11230 ! acute orbital inflammation +is_a: DOID:9957 ! periostitis + +[Term] +id: DOID:11232 +name: orbital osteomyelitis +synonym: "orbital osteomyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:65875003] +xref: ICD10CM:H05.02 +xref: ICD9CM:376.03 +xref: SNOMEDCT_US_2015_03_01:65875003 +xref: UMLS_CUI:C0155258 +is_a: DOID:11230 ! acute orbital inflammation + +[Term] +id: DOID:11233 +name: orbital tenonitis +synonym: "Tenonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:8976003] +xref: ICD9CM:376.04 +xref: SNOMEDCT_US_2015_03_01:8976003 +xref: UMLS_CUI:C0155259 +is_a: DOID:11230 ! acute orbital inflammation + +[Term] +id: DOID:11234 +name: orbital cellulitis +synonym: "orbital cellulitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194005002] +xref: ICD10CM:H05.01 +xref: ICD9CM:376.01 +xref: MSH:D054517 +xref: NCI:C99000 +xref: SNOMEDCT_US_2015_03_01:194005002 +xref: UMLS_CUI:C0149507 +is_a: DOID:11230 ! acute orbital inflammation + +[Term] +id: DOID:11235 +name: chronic adhesive otitis media +xref: ICD10CM:H74.1 +xref: ICD9CM:385.1 +xref: ICD9CM:385.10 +xref: SNOMEDCT_US_2015_03_01:194330006 +xref: SNOMEDCT_US_2015_03_01:194331005 +xref: SNOMEDCT_US_2015_03_01:7699004 +xref: UMLS_CUI:C0155478 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:11239 +name: appendix cancer +def: "A intestinal cancer that is located_in the appendix." [url:http\://en.wikipedia.org/wiki/Vermiform_appendix] +subset: TopNodes_DOcancerslim +synonym: "cancer of the appendix" EXACT [NCI2004_11_17:C9330] +synonym: "malignant neoplasm of appendix vermiformis" EXACT [ICD9CM_2006:153.5] +synonym: "malignant tumor of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:363411007] +synonym: "malignant tumor of the appendix" EXACT [NCI2004_11_17:C9333] +xref: ICD10CM:C18.1 +xref: ICD9CM:153.5 +xref: MSH:D001063 +xref: NCI:C9333 +xref: SNOMEDCT_US_2015_03_01:363411007 +xref: SNOMEDCT_US_2015_03_01:93679002 +xref: UMLS_CUI:C0496779 +is_a: DOID:10155 ! intestinal cancer + +[Term] +id: DOID:11240 +name: appendiceal neoplasm +synonym: "appendix neoplasm" EXACT [NCI2004_11_17:C4434] +synonym: "neoplasm of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:126846004] +xref: MSH:D001063 +xref: NCI:C4434 +xref: SNOMEDCT_US_2015_03_01:126846004 +xref: UMLS_CUI:C0003614 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:11241 +name: appendix lymphoma +synonym: "Appendiceal Lymphoma" EXACT [NCI2004_11_17:C5513] +xref: NCI:C5513 +xref: UMLS_CUI:C1332328 +is_a: DOID:11239 ! appendix cancer + +[Term] +id: DOID:11242 +name: plethora of newborn +synonym: "Neonatal polycythemia (disorder)" EXACT [SNOMEDCT_2005_07_31:32984002] +xref: ICD10CM:P61.1 +xref: ICD9CM:776.4 +xref: NCI:C27069 +xref: SNOMEDCT_US_2015_03_01:206518001 +xref: SNOMEDCT_US_2015_03_01:32984002 +xref: SNOMEDCT_US_2015_03_01:9170001 +xref: UMLS_CUI:C0272153 +is_a: DOID:8432 ! polycythemia + +[Term] +id: DOID:11243 +name: anemia of prematurity +synonym: "Anemia of prematurity (disorder)" EXACT [SNOMEDCT_2005_07_31:47100003] +xref: ICD10CM:P61.2 +xref: ICD9CM:776.6 +xref: NCI:C97167 +xref: SNOMEDCT_US_2015_03_01:47100003 +xref: UMLS_CUI:C0158996 +is_a: DOID:11244 ! neonatal anemia + +[Term] +id: DOID:11244 +name: neonatal anemia +synonym: "ANEMIA NEONATAL" EXACT [MTH:NOCODE] +synonym: "Neonatal anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:234350007] +synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:111468003] +synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:276577009] +synonym: "Neonatal anemia, NOS" EXACT [SNOMEDCT_2005_07_31:33130007] +xref: MSH:D000751 +xref: SNOMEDCT_US_2015_03_01:111468003 +xref: SNOMEDCT_US_2015_03_01:234350007 +xref: SNOMEDCT_US_2015_03_01:276577009 +xref: SNOMEDCT_US_2015_03_01:33130007 +xref: UMLS_CUI:C0002891 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:11245 +name: transient neonatal neutropenia +synonym: "Transient neonatal neutropenia (disorder)" EXACT [SNOMEDCT_2005_07_31:55444004] +synonym: "Transient neonatal neutropenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206520003] +xref: ICD10CM:P61.5 +xref: ICD9CM:776.7 +xref: SNOMEDCT_US_2015_03_01:206520003 +xref: SNOMEDCT_US_2015_03_01:55444004 +xref: UMLS_CUI:C0158997 +is_a: DOID:1227 ! neutropenia + +[Term] +id: DOID:11246 +name: DIC in newborn +synonym: "Disseminated intravascular coagulation in newborn" EXACT [ICD9CM_2006:776.2] +synonym: "Disseminated intravascular coagulation in newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:34417008] +xref: ICD10CM:P60 +xref: ICD9CM:776.2 +xref: NCI:C111856 +xref: SNOMEDCT_US_2015_03_01:34417008 +xref: UMLS_CUI:C0158992 +is_a: DOID:11247 ! disseminated intravascular coagulation + +[Term] +id: DOID:11247 +name: disseminated intravascular coagulation +synonym: "Defibrination syndrome" EXACT [ICD9CM_2006:286.6] +synonym: "DIC" EXACT [NCI2004_11_17:C2992] +synonym: "Diffuse or disseminated intravascular coagulation" EXACT [MTHICD9_2006:286.6] +xref: ICD10CM:D65 +xref: ICD9CM:286.6 +xref: MSH:D004211 +xref: NCI:C2992 +xref: SNOMEDCT_US_2015_03_01:267563002 +xref: SNOMEDCT_US_2015_03_01:67406007 +xref: UMLS_CUI:C0012739 +is_a: DOID:2452 ! thrombophilia + +[Term] +id: DOID:11248 +name: hemorrhagic disease of newborn +synonym: "Hemorrhagic diathesis of newborn" EXACT [MTHICD9_2006:776.0] +synonym: "Hemorrhagic disease of newborn" EXACT [ICD9CM_2006:776.0] +synonym: "hemorrhagic disease of newborn" EXACT [CSP2005:0427-5157] +synonym: "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:12546009] +is_obsolete: true + +[Term] +id: DOID:11249 +name: vitamin K deficiency hemorrhagic disease +synonym: "deficiency of vitamin K" EXACT [ICD9CM_2006:269.0] +synonym: "deficiency of vitamin K (disorder)" EXACT [SNOMEDCT_2005_07_31:124892003] +synonym: "vitamin K deficiency" EXACT [CSP2005:2116-7764] +synonym: "vitamin K deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:52675005] +xref: ICD10CM:E56.1 +xref: ICD9CM:269.0 +xref: MSH:D014813 +xref: SNOMEDCT_US_2015_03_01:124892003 +xref: SNOMEDCT_US_2015_03_01:52675005 +xref: UMLS_CUI:C0042880 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:11252 +name: microcytic anemia +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C562385 +xref: NCI:C35141 +xref: OMIM:206200 +xref: SNOMEDCT_US_2015_03_01:154787005 +xref: SNOMEDCT_US_2015_03_01:234349007 +xref: SNOMEDCT_US_2015_03_01:267553005 +xref: UMLS_CUI:C0085576 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:11254 +name: Brill-Zinsser disease +def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Brill Zinsser disease" EXACT [CSP2005:2623-8052] +synonym: "Brill's disease" EXACT [ICD9CM_2006:081.1] +synonym: "Brill-Zinsser disease (disorder)" EXACT [SNOMEDCT_2005_07_31:47761007] +synonym: "Latent typhus" RELATED [] +synonym: "Recrudescent typhus" EXACT [MTHICD9_2006:081.1] +synonym: "Sporadic typhus" RELATED [] +xref: ICD10CM:A75.1 +xref: ICD9CM:081.1 +xref: MSH:D014438 +xref: SNOMEDCT_US_2015_03_01:47761007 +xref: UMLS_CUI:C0006181 +is_a: DOID:0050480 ! epidemic typhus + +[Term] +id: DOID:11256 +name: typhus +alt_id: DOID:11255 +alt_id: DOID:12353 +def: "A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites." [url:http\://emedicine.medscape.com/article/231374-overview#a0104] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Classical typhus (fever)" RELATED [] +synonym: "endemic flea-borne typhus" EXACT [] +synonym: "Endemic Typhus fever" EXACT [MTHICD9_2006:081.0] +synonym: "Epidemic (louse-borne) typhus" RELATED [] +synonym: "epidemic louse-borne typhus" EXACT [] +synonym: "Epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [] +synonym: "European typhus" RELATED [] +synonym: "Exanthematic Typhus fever NOS" EXACT [MTHICD9_2006:080] +synonym: "Exanthematous typhus" RELATED [] +synonym: "Famine fever" RELATED [] +synonym: "Flea typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:414263007] +synonym: "Flea-borne rickettsiosis" RELATED [] +synonym: "Flea-borne typhus" RELATED [] +synonym: "Hospital fever" RELATED [] +synonym: "Jail fever" RELATED [] +synonym: "Louse-borne [epidemic] typhus" EXACT [ICD9CM_2006:080] +synonym: "Louse-borne rickettsiosis" RELATED [] +synonym: "Louse-borne typhus" RELATED [] +synonym: "Mexican typhus" RELATED [] +synonym: "Moscow typhus " RELATED [] +synonym: "Murine [endemic] typhus" EXACT [ICD9CM_2006:081.0] +synonym: "Murine typhus" RELATED [] +synonym: "Petechial fever" RELATED [] +synonym: "Prison fever" RELATED [] +synonym: "Rat flea typhus" RELATED [] +synonym: "Ship fever" RELATED [] +synonym: "Shop typhus" RELATED [] +synonym: "Typhus exanthematique" RELATED [] +synonym: "Typhus fever (disorder)" EXACT [SNOMEDCT_2005_07_31:187383009] +synonym: "Urban typhus" RELATED [] +xref: ICD10CM:A75 +xref: ICD10CM:A75.0 +xref: ICD10CM:A75.2 +xref: ICD10CM:A75.9 +xref: ICD9CM:080 +xref: ICD9CM:081.0 +xref: ICD9CM:081.9 +xref: MSH:D014437 +xref: MSH:D014438 +xref: NCI:C84688 +xref: NCI:C84689 +xref: SNOMEDCT_US_2015_03_01:154375001 +xref: SNOMEDCT_US_2015_03_01:187383009 +xref: SNOMEDCT_US_2015_03_01:25668000 +xref: SNOMEDCT_US_2015_03_01:266205000 +xref: SNOMEDCT_US_2015_03_01:39111003 +xref: SNOMEDCT_US_2015_03_01:414263007 +xref: SNOMEDCT_US_2015_03_01:83838002 +xref: UMLS_CUI:C0041471 +xref: UMLS_CUI:C0041472 +xref: UMLS_CUI:C0041473 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11257 +name: social phobia +def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people." [url:http\://en.wikipedia.org/wiki/Social_phobia] +xref: ICD10CM:F40.1 +xref: ICD10CM:F40.10 +xref: ICD9CM:300.23 +xref: MSH:D010698 +xref: NCI:C34927 +xref: SNOMEDCT_US_2015_03_01:191720001 +xref: SNOMEDCT_US_2015_03_01:192395002 +xref: SNOMEDCT_US_2015_03_01:25501002 +xref: UMLS_CUI:C0031572 +is_a: DOID:591 ! phobic disorder + +[Term] +id: DOID:11258 +name: cat-scratch disease +def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." [url:http\://en.wikipedia.org/wiki/Cat_scratch_disease, url:http\://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "benign lymphoreticulosis" EXACT [MTHICD9_2006:078.3] +synonym: "cat scratch fever" EXACT [] +synonym: "Debre's Syndrome" EXACT [] +synonym: "Debre-Mollaret Syndrome" EXACT [] +synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT [] +xref: ICD10CM:A28.1 +xref: ICD9CM:078.3 +xref: MSH:D002372 +xref: NCI:C84620 +xref: SNOMEDCT_US_2015_03_01:123319006 +xref: SNOMEDCT_US_2015_03_01:154370006 +xref: SNOMEDCT_US_2015_03_01:266202002 +xref: SNOMEDCT_US_2015_03_01:79974007 +xref: UMLS_CUI:C0007361 +is_a: DOID:11102 ! bartonellosis + +[Term] +id: DOID:11259 +name: Cytomegalovirus infectious disease +def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus] +synonym: "Cytomagalovirus infection" EXACT [SNOMEDCT_2005_07_31:266203007] +synonym: "Cytomegaloviral disease" EXACT [ICD9CM_2006:078.5] +synonym: "Cytomegaloviral disease, unspecified" EXACT [SNOMEDCT_2005_07_31:186699001] +synonym: "Cytomegaloviral disease, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187456009] +synonym: "cytomegalovirus infection" EXACT [CSP2005:3099-9294] +synonym: "Cytomegalovirus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:28944009] +synonym: "Salivary gland virus disease" EXACT [MTHICD9_2006:078.5] +synonym: "Salivary gland virus disease" EXACT [SNOMEDCT_2005_07_31:186695007] +is_obsolete: true + +[Term] +id: DOID:11260 +name: rabies +def: "A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis." [url:http\://en.wikipedia.org/wiki/Rabies, url:http\://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx] +subset: zoonotic_infectious_disease +synonym: "Lyssa" EXACT [MTHICD9_2006:071] +xref: ICD10CM:A82 +xref: ICD10CM:A82.9 +xref: ICD9CM:071 +xref: MSH:D011818 +xref: NCI:C28182 +xref: SNOMEDCT_US_2015_03_01:14168008 +xref: SNOMEDCT_US_2015_03_01:186644005 +xref: SNOMEDCT_US_2015_03_01:187393002 +xref: SNOMEDCT_US_2015_03_01:275370001 +xref: UMLS_CUI:C0034494 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11261 +name: foot and mouth disease +def: "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." [url:http\://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf] +synonym: "Epizootic stomatitis" EXACT [MTHICD9_2006:078.4] +is_obsolete: true + +[Term] +id: DOID:11262 +name: ornithosis +def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." [url:http\://en.wikipedia.org/wiki/Psittacosis, url:http\://www.nyc.gov/html/doh/html/cd/cdpsit.shtml] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "psittacosis" EXACT [] +xref: ICD10CM:A70 +xref: ICD9CM:073 +xref: ICD9CM:073.9 +xref: MSH:D009956 +xref: NCI:C34873 +xref: SNOMEDCT_US_2015_03_01:154367007 +xref: SNOMEDCT_US_2015_03_01:154369005 +xref: SNOMEDCT_US_2015_03_01:186653003 +xref: SNOMEDCT_US_2015_03_01:186657002 +xref: SNOMEDCT_US_2015_03_01:266200005 +xref: SNOMEDCT_US_2015_03_01:75116005 +xref: UMLS_CUI:C0029291 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11263 +name: Chlamydia trachomatis infectious disease +def: "A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis." [url:http\://en.wikipedia.org/wiki/Chlamydia_infection] +subset: gram-negative_bacterial_infectious_disease +synonym: "chlamydial disease" EXACT [CSP2005:0638-2797] +synonym: "Chlamydial Infection" EXACT [NCI2004_11_17:C34463] +is_obsolete: true + +[Term] +id: DOID:11264 +name: Chlamydophila infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:11265 +name: trachoma +alt_id: DOID:13013 +alt_id: DOID:13264 +def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea." [url:http\://en.wikipedia.org/wiki/Trachoma, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm, url:http\://www.who.int/blindness/causes/priority/en/index2.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "active stage trachoma" EXACT [] +synonym: "trachoma dubium" EXACT [] +xref: ICD10CM:A71 +xref: ICD10CM:A71.0 +xref: ICD10CM:A71.1 +xref: ICD10CM:A71.9 +xref: ICD9CM:076 +xref: ICD9CM:076.0 +xref: ICD9CM:076.1 +xref: ICD9CM:076.9 +xref: MSH:D014141 +xref: SNOMEDCT_US_2015_03_01:154367007 +xref: SNOMEDCT_US_2015_03_01:186671005 +xref: SNOMEDCT_US_2015_03_01:186672003 +xref: SNOMEDCT_US_2015_03_01:187379009 +xref: SNOMEDCT_US_2015_03_01:2576002 +xref: SNOMEDCT_US_2015_03_01:266200005 +xref: SNOMEDCT_US_2015_03_01:29976007 +xref: SNOMEDCT_US_2015_03_01:52812002 +xref: UMLS_CUI:C0040592 +xref: UMLS_CUI:C0153107 +xref: UMLS_CUI:C0153108 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:11266 +name: hemorrhagic fever with renal syndrome +def: "A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure." [url:http\://emedicine.medscape.com/article/982142-overview, url:http\://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm] +subset: zoonotic_infectious_disease +synonym: "Hemorrhagic fever, Russian" EXACT [MTHICD9_2006:078.6] +synonym: "Hemorrhagic nephrosonephritis" EXACT [ICD9CM_2006:078.6] +synonym: "HFRS" EXACT [] +synonym: "Puumala virus nephropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:364756009] +xref: ICD10CM:A98.5 +xref: ICD9CM:078.6 +xref: MSH:D006480 +xref: NCI:C84753 +xref: SNOMEDCT_US_2015_03_01:102455002 +xref: SNOMEDCT_US_2015_03_01:186701001 +xref: SNOMEDCT_US_2015_03_01:364756009 +xref: SNOMEDCT_US_2015_03_01:70826003 +xref: UMLS_CUI:C0019101 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11267 +name: keratomalacia +xref: ICD10CM:H18.44 +xref: ICD9CM:371.45 +xref: MSH:C536156 +xref: SNOMEDCT_US_2015_03_01:193827004 +xref: SNOMEDCT_US_2015_03_01:85149007 +xref: UMLS_CUI:C0152455 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:11268 +name: vitamin A deficiency with keratomalacia +synonym: "vitamin A deficiency with keratomalacia (disorder)" EXACT [SNOMEDCT_2005_07_31:42639000] +is_obsolete: true + +[Term] +id: DOID:11269 +name: chronic apical periodontitis +synonym: "chronic apical periodontitis (disorder)" EXACT [SNOMEDCT_2005_07_31:87782002] +synonym: "chronic apical periodontitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196345001] +xref: ICD10CM:K04.5 +xref: ICD9CM:522.6 +xref: SNOMEDCT_US_2015_03_01:196343008 +xref: SNOMEDCT_US_2015_03_01:196345001 +xref: SNOMEDCT_US_2015_03_01:87782002 +xref: UMLS_CUI:C0392492 +is_a: DOID:823 ! periapical periodontitis + +[Term] +id: DOID:11271 +name: hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium +alt_id: DOID:11270 +alt_id: DOID:14011 +alt_id: DOID:14012 +synonym: "hypertension secondary to renal disease, antepartum" EXACT [] +synonym: "hypertension secondary to renal disease, postpartum" EXACT [] +synonym: "hypertension secondary to renal disease, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11275 +name: muscle syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilis of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:88943008] +is_obsolete: true + +[Term] +id: DOID:11277 +name: Plummer's disease +synonym: "Plummer disease" EXACT [] +synonym: "Toxic nodular Goiter" EXACT [NCI2004_11_17:C35171] +synonym: "Toxic nodular goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:57777000] +synonym: "Toxic nodular goiter NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190254005] +synonym: "Toxic nodular goiter unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190250001] +xref: ICD10CM:E05.2 +xref: ICD9CM:242.3 +xref: NCI:C35171 +xref: SNOMEDCT_US_2015_03_01:190250001 +xref: SNOMEDCT_US_2015_03_01:190254005 +xref: SNOMEDCT_US_2015_03_01:57777000 +xref: UMLS_CUI:C0342127 +is_a: DOID:7998 ! hyperthyroidism + +[Term] +id: DOID:11282 +name: solar retinopathy +synonym: "Solar retinitis" EXACT [SNOMEDCT_2005_07_31:1135000] +xref: ICD10CM:H31.02 +xref: ICD9CM:363.31 +xref: SNOMEDCT_US_2015_03_01:1135000 +xref: UMLS_CUI:C0152131 +is_a: DOID:11086 ! chorioretinal scar + +[Term] +id: DOID:11283 +name: peripheral scars of retina +xref: ICD9CM:363.34 +xref: UMLS_CUI:C0154888 +is_a: DOID:11086 ! chorioretinal scar + +[Term] +id: DOID:11284 +name: disseminated scars of retina +is_obsolete: true + +[Term] +id: DOID:11285 +name: tick paralysis +def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm, url:http\://www.journals.uchicago.edu/doi/pdf/10.1086/313502, url:http\://www.ncbi.nlm.nih.gov/pubmed/10428629] +synonym: "Tick paralysis" EXACT [MTHICD9_2006:989.5] +synonym: "Tick paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:74225001] +xref: MSH:D013985 +xref: SNOMEDCT_US_2015_03_01:74225001 +xref: UMLS_CUI:C0040197 +is_a: DOID:4109 ! tick infestation + +[Term] +id: DOID:11286 +name: neuromuscular junction toxic disorder +synonym: "Toxic myoneural disorder" EXACT [ICD9CM_2006:358.2] +synonym: "Toxic myoneural junction disorder" EXACT [SNOMEDCT_2005_07_31:17940001] +is_obsolete: true + +[Term] +id: DOID:11287 +name: conditions involving the integument and temperature regulation of fetus and newborn +is_obsolete: true + +[Term] +id: DOID:11289 +name: ventilation pneumonitis +def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf] +synonym: "Air-conditioner and humidifier lung (disorder)" EXACT [SNOMEDCT_2005_07_31:195990006] +synonym: "Humidifier lung (disorder)" EXACT [SNOMEDCT_2005_07_31:48347002] +xref: ICD10CM:J67.7 +xref: ICD9CM:495.7 +xref: SNOMEDCT_US_2015_03_01:195990006 +xref: SNOMEDCT_US_2015_03_01:48347002 +xref: UMLS_CUI:C0155891 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:1129 +name: pituitary apoplexy +synonym: "Pituitary apoplexy (disorder)" EXACT [SNOMEDCT_2005_07_31:237701005] +xref: MSH:D010899 +xref: NCI:C26853 +xref: SNOMEDCT_US_2015_03_01:237701005 +xref: UMLS_CUI:C0032001 +is_a: DOID:1130 ! pituitary infarct + +[Term] +id: DOID:11294 +name: arteriovenous malformation +def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system." [HP:0100026, url:http\://en.wikipedia.org/wiki/Arteriovenous_malformation] +synonym: "Arteriovenous hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:403966009] +synonym: "Cirsoid aneurysm" EXACT [SNOMEDCT_2005_07_31:204480002] +synonym: "Racemose aneurysm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:14156004] +synonym: "Racemose Angioma" EXACT [NCI2004_11_17:C4297] +synonym: "Racemose hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:11071001] +xref: CSP:0571-2717 +xref: HP:0100026 +xref: ICD10CM:I77.0 +xref: NCI:C4297 +xref: SNOMEDCT_US_2015_03_01:11071001 +xref: SNOMEDCT_US_2015_03_01:14156004 +xref: SNOMEDCT_US_2015_03_01:204480002 +xref: SNOMEDCT_US_2015_03_01:233982006 +xref: SNOMEDCT_US_2015_03_01:403966009 +xref: UMLS_CUI:C0334533 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:11295 +name: retinal microaneurysm +synonym: "Retinal microaneurysm (disorder)" EXACT [SNOMEDCT_2005_07_31:34037000] +synonym: "Retinal microaneurysms NOS" EXACT [ICD9CM_2006:362.14] +synonym: "Retinal microaneurysms NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193363005] +xref: ICD9CM:362.14 +xref: SNOMEDCT_US_2015_03_01:193363005 +xref: SNOMEDCT_US_2015_03_01:34037000 +xref: UMLS_CUI:C0154834 +is_a: DOID:2462 ! retinal vascular disease + +[Term] +id: DOID:11299 +name: vertebral artery occlusion +synonym: "Occlusion and stenosis of vertebral artery" EXACT [] +xref: ICD10CM:I65.0 +xref: ICD9CM:433.2 +xref: UMLS_CUI:C0155724 +is_a: DOID:5976 ! occlusion precerebral artery + +[Term] +id: DOID:113 +name: pneumopericardium +is_obsolete: true + +[Term] +id: DOID:1130 +name: pituitary infarct +synonym: "Pituitary infarction" EXACT [NCI2004_11_17:C27117] +synonym: "Pituitary infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:95830009] +xref: NCI:C27117 +xref: SNOMEDCT_US_2015_03_01:95830009 +xref: UMLS_CUI:C0342405 +is_a: DOID:3646 ! necrosis of pituitary + +[Term] +id: DOID:11302 +name: cercarial dermatitis +def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection." [url:http\://www.cdc.gov/parasites/swimmersitch/, url:http\://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm] +synonym: "Cutaneous schistosomiasis" EXACT [ICD9CM_2006:120.3] +synonym: "Sea bather's eruption (disorder)" EXACT [SNOMEDCT_2005_07_31:238534006] +xref: ICD10CM:B65.3 +xref: ICD9CM:120.3 +xref: NCI:C34457 +xref: SNOMEDCT_US_2015_03_01:187115002 +xref: SNOMEDCT_US_2015_03_01:238534006 +xref: SNOMEDCT_US_2015_03_01:86711009 +xref: UMLS_CUI:C0546996 +is_a: DOID:1395 ! schistosomiasis + +[Term] +id: DOID:11307 +name: subchronic state latent schizophrenia with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:11308 +name: latent schizophrenia in remission +synonym: "Latent schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191565008] +synonym: "Latent schizophrenia, in remission" EXACT [ICD9CM_2006:295.55] +is_obsolete: true + +[Term] +id: DOID:11309 +name: chronic latent schizophrenia +synonym: "chronic latent schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191562006] +synonym: "Latent chronic Schizophrenia" EXACT [NCI2004_11_17:C35182] +synonym: "Latent schizophrenia, chronic state" EXACT [ICD9CM_2006:295.52] +is_obsolete: true + +[Term] +id: DOID:11312 +name: Mobitz type II atrioventricular block +synonym: "Mobitz (type) II atrioventricular block" EXACT [ICD9CM_2006:426.12] +synonym: "Mobitz II atrioventricular block" EXACT [MTHICD9_2006:426.12] +synonym: "Mobitz type II atrioventricular block (disorder)" EXACT [SNOMEDCT_2005_07_31:28189009] +xref: ICD9CM:426.12 +xref: NCI:C62018 +xref: SNOMEDCT_US_2015_03_01:28189009 +xref: UMLS_CUI:C0155700 +is_a: DOID:0050822 ! second-degree atrioventricular block + +[Term] +id: DOID:11314 +name: Histoplasma duboisii retinitis +def: "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308] +synonym: "Histoplasma duboisii with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187049007] +is_obsolete: true + +[Term] +id: DOID:11315 +name: African histoplasmosis +def: "A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions." [url:http\://www.cdc.gov/eid/content/13/11/1647.htm] +xref: ICD9CM:115.10 +xref: UMLS_CUI:C0153270 +is_a: DOID:1731 ! histoplasmosis + +[Term] +id: DOID:11316 +name: histoplasmosis retinitis +synonym: "Histoplasmosis with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187058000] +xref: ICD9CM:115.92 +xref: SNOMEDCT_US_2015_03_01:187058000 +xref: UMLS_CUI:C0153278 +is_a: DOID:3612 ! retinitis + +[Term] +id: DOID:11320 +name: Kyasanur forest disease +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm] +subset: tick-borne_infectious_disease +xref: ICD10CM:A98.2 +xref: ICD9CM:065.2 +xref: MSH:D007733 +xref: SNOMEDCT_US_2015_03_01:23097003 +xref: UMLS_CUI:C0022810 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11327 +name: acute schizophrenic episode subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:11328 +name: schizophreniform disorder +def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month." [url:http\://en.wikipedia.org/wiki/Schizophreniform_disorder] +xref: ICD10CM:F20.81 +xref: ICD9CM:295.4 +xref: MSH:D011618 +xref: NCI:C94376 +xref: SNOMEDCT_US_2015_03_01:88975006 +xref: UMLS_CUI:C0036358 +is_a: DOID:2468 ! psychotic disorder + +[Term] +id: DOID:11329 +name: ainhum +def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later." [url:http\://en.wikipedia.org/wiki/Ainhum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Ainhum (disorder)" EXACT [SNOMEDCT_2005_07_31:38528001] +synonym: "Dactylolysis spontanea" EXACT [MTHICD9_2006:136.0] +xref: ICD10CM:L94.6 +xref: ICD9CM:136.0 +xref: MSH:D000387 +xref: NCI:C84544 +xref: OMIM:103400 +xref: SNOMEDCT_US_2015_03_01:38528001 +xref: SNOMEDCT_US_2015_03_01:51404004 +xref: UMLS_CUI:C0001860 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:11330 +name: erysipelas +subset: gram-positive_bacterial_infectious_disease +synonym: "Erysipelas (disorder)" EXACT [SNOMEDCT_2005_07_31:44653001] +synonym: "Erysipelas (disorder)" EXACT [SNOMEDCT_2005_07_31:266005008] +xref: ICD10CM:A46 +xref: ICD9CM:035 +xref: MSH:D004886 +xref: SNOMEDCT_US_2015_03_01:154305002 +xref: SNOMEDCT_US_2015_03_01:266005008 +xref: SNOMEDCT_US_2015_03_01:44653001 +xref: UMLS_CUI:C0014733 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:11335 +name: sarcoidosis +def: "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." [url:http\://en.wikipedia.org/wiki/Sarcoidosis, url:http\://ghr.nlm.nih.gov/glossary=sarcoidosis, url:http\://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Boeck sarcoid" EXACT [] +synonym: "lymphogranulomatosis" EXACT [CSP2005:2024-3715] +xref: ICD10CM:D80-D89 +xref: ICD10CM:D86 +xref: ICD10CM:D86.9 +xref: ICD9CM:135 +xref: MSH:D012507 +xref: NCI:C34995 +xref: OMIM:181000 +xref: OMIM:609464 +xref: OMIM:612387 +xref: OMIM:612388 +xref: ORDO:797 +xref: SNOMEDCT_US_2015_03_01:154425004 +xref: SNOMEDCT_US_2015_03_01:31541009 +xref: UMLS_CUI:C0036202 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:11336 +name: rhinoscleroma +def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." [url:http\://en.wikipedia.org/wiki/Rhinoscleroma, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma] +subset: gram-negative_bacterial_infectious_disease +synonym: "Rhinoscleroma (disorder)" EXACT [SNOMEDCT_2005_07_31:72409005] +xref: ICD9CM:040.1 +xref: MSH:D012226 +xref: SNOMEDCT_US_2015_03_01:72409005 +xref: UMLS_CUI:C0035468 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11337 +name: Lemierre's syndrome +def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling." [url:http\://en.wikipedia.org/wiki/Fusobacterium_necrophorum, url:http\://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis] +subset: gram-negative_bacterial_infectious_disease +synonym: "acute sore throat" RELATED [] +synonym: "human necrobacillosis" EXACT [] +synonym: "Lemierre syndrome" EXACT [] +synonym: "postanginal sepsis" EXACT [] +xref: ICD9CM:040.3 +xref: MSH:D005674 +xref: SNOMEDCT_US_2015_03_01:52542005 +xref: UMLS_CUI:C0027537 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:11338 +name: tetanus +def: "A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." [url:http\://emedicine.medscape.com/article/786414-overview#a0104, url:http\://en.wikipedia.org/wiki/Tetanus] +subset: gram-positive_bacterial_infectious_disease +synonym: "clostridial tetanus" EXACT [CSP2005:0368-2622] +synonym: "Infection due to Clostridium tetani (disorder)" EXACT [SNOMEDCT_2005_07_31:276202003] +synonym: "Tetanus (disorder)" EXACT [SNOMEDCT_2005_07_31:76902006] +xref: ICD10CM:A35 +xref: ICD9CM:037 +xref: MSH:D013742 +xref: NCI:C85185 +xref: SNOMEDCT_US_2015_03_01:154312006 +xref: SNOMEDCT_US_2015_03_01:276202003 +xref: SNOMEDCT_US_2015_03_01:76902006 +xref: UMLS_CUI:C0039614 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11339 +name: pneumocystosis +def: "An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia] +synonym: "Pneumocystis carinii pneumonia" EXACT [SNOMEDCT_2005_07_31:155557008] +synonym: "Pneumocystis jirovecii pneumonia" EXACT [] +synonym: "Pneumocystis pneumonia" EXACT [CSP2005:2596-6076] +synonym: "Pneumocystosis" EXACT [ICD9CM_2006:136.3] +synonym: "Pneumocystosis pneumonia" EXACT [SNOMEDCT_2005_07_31:415125002] +synonym: "pulmonary pneumocystosis (disorder)" EXACT [SNOMEDCT_2005_07_31:57541005] +xref: ICD10CM:B59 +xref: ICD9CM:136.3 +xref: MSH:D011020 +xref: NCI:C3334 +xref: SNOMEDCT_US_2015_03_01:155557008 +xref: SNOMEDCT_US_2015_03_01:415125002 +xref: SNOMEDCT_US_2015_03_01:57541005 +xref: SNOMEDCT_US_2015_03_01:88860002 +xref: UMLS_CUI:C1535939 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:1134 +name: gingival recession +alt_id: DOID:1133 +alt_id: DOID:13280 +alt_id: DOID:13901 +alt_id: DOID:2405 +synonym: "Gingival recession" EXACT [SNOMEDCT_2005_07_31:155645006] +synonym: "Gingival recession" EXACT [ICD9CM_2006:523.2] +synonym: "Gingival recession (disorder)" EXACT [SNOMEDCT_2005_07_31:4356008] +synonym: "Gingival recession NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196360003] +synonym: "Gingival recession, localized" EXACT [ICD9CM_2006:523.24] +synonym: "Gingival recession, unspecified" EXACT [ICD9CM_2006:523.20] +synonym: "localized gingival recession" EXACT [] +synonym: "localized gingival recession (disorder)" EXACT [SNOMEDCT_2005_07_31:59898000] +synonym: "minimal gingival recession" EXACT [] +synonym: "moderate gingival recession" EXACT [] +synonym: "severe gingival recession" EXACT [] +xref: ICD10CM:K06.0 +xref: ICD9CM:523.2 +xref: ICD9CM:523.20 +xref: ICD9CM:523.21 +xref: ICD9CM:523.22 +xref: ICD9CM:523.23 +xref: ICD9CM:523.24 +xref: MSH:D005889 +xref: NCI:C82068 +xref: SNOMEDCT_US_2015_03_01:155645006 +xref: SNOMEDCT_US_2015_03_01:196360003 +xref: SNOMEDCT_US_2015_03_01:4356008 +xref: SNOMEDCT_US_2015_03_01:59898000 +xref: UMLS_CUI:C0017572 +xref: UMLS_CUI:C0266916 +xref: UMLS_CUI:C1456171 +xref: UMLS_CUI:C1456172 +xref: UMLS_CUI:C1456173 +is_a: DOID:1483 ! gingival disease + +[Term] +id: DOID:11340 +name: Pneumocystis infectious disease +def: "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." [url:http\://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm] +synonym: "Infection by Pneumocystis carinii (disorder)" EXACT [SNOMEDCT_2005_07_31:111918002] +is_obsolete: true + +[Term] +id: DOID:11341 +name: fungal lung infectious disease +def: "A lung disease that is a mycosis caused by fungal growth in the lungs." [url:http\://en.wikipedia.org/wiki/Fungal_infection] +is_obsolete: true + +[Term] +id: DOID:11342 +name: arcus senilis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Arcus of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:231924000] +synonym: "corneal arcus" EXACT [] +xref: ICD10CM:H18.41 +xref: MSH:D001112 +xref: OMIM:107800 +xref: SNOMEDCT_US_2015_03_01:111522004 +xref: SNOMEDCT_US_2015_03_01:155159000 +xref: SNOMEDCT_US_2015_03_01:231924000 +xref: UMLS_CUI:C0003742 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:11343 +name: scleral disease +synonym: "disorder of sclera (disorder)" EXACT [SNOMEDCT_2005_07_31:33064008] +xref: ICD10CM:H15 +xref: ICD10CM:H15.9 +xref: MSH:D015422 +xref: NCI:C79717 +xref: SNOMEDCT_US_2015_03_01:33064008 +xref: UMLS_CUI:C0036412 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:11346 +name: congenital osteodystrophy +is_obsolete: true + +[Term] +id: DOID:11347 +name: Meniere's disease in remission +synonym: "Inactive Meniere's disease" EXACT [ICD9CM_2006:386.04] +synonym: "Mnire's disease in remission" EXACT [SNOMEDCT_2005_07_31:194351009] +is_obsolete: true + +[Term] +id: DOID:11349 +name: epilepsia partialis continua +is_obsolete: true + +[Term] +id: DOID:11350 +name: grand mal status epilepticus +synonym: "Grand mal status" EXACT [SNOMEDCT_2005_07_31:192998006] +synonym: "Grand mal status (disorder)" EXACT [SNOMEDCT_2005_07_31:13973009] +synonym: "Grand mal status, epileptic" EXACT [ICD9CM_2006:345.3] +is_obsolete: true + +[Term] +id: DOID:11352 +name: epilepsia partialis continua with intractable epilepsy +is_obsolete: true + +[Term] +id: DOID:11353 +name: bladder diverticulum +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Diverticulum - bladder" EXACT [SNOMEDCT_2005_07_31:268335001] +synonym: "Diverticulum - bladder" EXACT [SNOMEDCT_2005_07_31:156977001] +synonym: "Diverticulum of bladder" EXACT [ICD9CM_2006:596.3] +synonym: "Diverticulum of bladder" EXACT [SNOMEDCT_2005_07_31:155888001] +synonym: "Diverticulum of bladder" EXACT [SNOMEDCT_2005_07_31:252004007] +synonym: "Diverticulum of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:197866008] +synonym: "Diverticulum of bladder (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:21853005] +synonym: "Diverticulum of bladder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197869001] +xref: ICD10CM:N32.3 +xref: ICD9CM:596.3 +xref: MSH:C562406 +xref: OMIM:109820 +xref: SNOMEDCT_US_2015_03_01:155888001 +xref: SNOMEDCT_US_2015_03_01:156977001 +xref: SNOMEDCT_US_2015_03_01:197866008 +xref: SNOMEDCT_US_2015_03_01:197869001 +xref: SNOMEDCT_US_2015_03_01:21853005 +xref: SNOMEDCT_US_2015_03_01:252004007 +xref: SNOMEDCT_US_2015_03_01:268335001 +xref: UMLS_CUI:C0156273 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:11354 +name: stone in bladder diverticulum +synonym: "calculus in diverticulum of bladder" EXACT [ICD9CM_2006:594.0] +synonym: "calculus in diverticulum of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:18109005] +xref: ICD10CM:N21.0 +xref: ICD9CM:594.0 +xref: SNOMEDCT_US_2015_03_01:18109005 +xref: UMLS_CUI:C0156265 +is_a: DOID:11353 ! bladder diverticulum +is_a: DOID:11355 ! bladder calculus + +[Term] +id: DOID:11355 +name: bladder calculus +xref: ICD10CM:N21.0 +xref: MSH:D001744 +xref: NCI:C26707 +xref: SNOMEDCT_US_2015_03_01:155879005 +xref: SNOMEDCT_US_2015_03_01:197830007 +xref: SNOMEDCT_US_2015_03_01:70650003 +xref: UMLS_CUI:C0005683 +is_a: DOID:9590 ! lower urinary tract calculus + +[Term] +id: DOID:11360 +name: Phlebotomus fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia." [url:http\://en.wikipedia.org/wiki/Pappataci_fever, url:http\://www.bjbms.org/archives/2009-1/current%20issue6.pdf] +subset: zoonotic_infectious_disease +synonym: "pappataci fever" EXACT [] +synonym: "Sandfly fever" EXACT [SNOMEDCT_2005_07_31:186605002] +synonym: "Sandfly-borne arboviral fever" EXACT [SNOMEDCT_2005_07_31:240517002] +synonym: "Sandfly-borne bunyavirus fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240518007] +synonym: "Sandfly-borne phleboviral disease" EXACT [SNOMEDCT_2005_07_31:407476002] +xref: ICD10CM:A93.1 +xref: ICD9CM:066.0 +xref: MSH:D010217 +xref: SNOMEDCT_US_2015_03_01:186605002 +xref: SNOMEDCT_US_2015_03_01:186606001 +xref: SNOMEDCT_US_2015_03_01:240517002 +xref: SNOMEDCT_US_2015_03_01:240518007 +xref: SNOMEDCT_US_2015_03_01:33670001 +xref: SNOMEDCT_US_2015_03_01:407476002 +xref: UMLS_CUI:C0030372 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:11361 +name: tickborne fever +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "pasture fever" EXACT [] +synonym: "tick-borne fever" EXACT [] +synonym: "Tick-borne fever (disorder)" EXACT [SNOMEDCT_2005_07_31:25495004] +synonym: "Tick-borne fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186608000] +is_obsolete: true + +[Term] +id: DOID:11364 +name: lens subluxation +synonym: "Lens subluxation" EXACT [SNOMEDCT_2005_07_31:267748002] +synonym: "Lens subluxation" EXACT [SNOMEDCT_2005_07_31:155203002] +synonym: "Subluxation of lens" EXACT [ICD9CM_2006:379.32] +synonym: "Subluxation of lens (disorder)" EXACT [SNOMEDCT_2005_07_31:65814009] +xref: ICD10CM:H27.11 +xref: ICD9CM:379.32 +xref: MSH:D007906 +xref: NCI:C34772 +xref: SNOMEDCT_US_2015_03_01:155203002 +xref: SNOMEDCT_US_2015_03_01:267748002 +xref: SNOMEDCT_US_2015_03_01:65814009 +xref: UMLS_CUI:C0023316 +is_a: DOID:110 ! lens disease + +[Term] +id: DOID:11367 +name: congenital aphakia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "APHAKIA, CONGENITAL PRIMARY" EXACT [] +synonym: "Congenital absence of lens" EXACT [] +synonym: "Congenital Aphakia" EXACT [NCI2004_11_17:C35172] +synonym: "Congenital aphakia" EXACT [ICD9CM_2006:743.35] +synonym: "Congenital aphakia (disorder)" EXACT [SNOMEDCT_2005_07_31:35387008] +xref: ICD10CM:Q12.3 +xref: ICD9CM:743.35 +xref: NCI:C35172 +xref: OMIM:610256 +xref: SNOMEDCT_US_2015_03_01:35387008 +xref: UMLS_CUI:C0152422 +is_a: DOID:110 ! lens disease + +[Term] +id: DOID:11371 +name: functional diarrhea +synonym: "Functional diarrhea (disorder)" EXACT [SNOMEDCT_2005_07_31:47812002] +xref: ICD10CM:K59.1 +xref: ICD9CM:564.5 +xref: SNOMEDCT_US_2015_03_01:47812002 +xref: UMLS_CUI:C0156173 +is_a: DOID:5353 ! colonic disease + +[Term] +id: DOID:11372 +name: megacolon +alt_id: DOID:1771 +def: "A colonic disease that is characterized by an abnormal dilation of the colon." [url:http\://en.wikipedia.org/wiki/Megacolon] +synonym: "Dilatation of colon" EXACT [MTHICD9_2006:564.7, SNOMEDCT_2005_07_31:197138002, SNOMEDCT_2005_07_31:33995003] +synonym: "Megacolon" EXACT [] +synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:155789001] +synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:266528000] +synonym: "Megacolon excluding Hirschsprung's disease" EXACT [SNOMEDCT_2005_07_31:197138002] +synonym: "Megacolon excluding Hirschsprung's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:266459000] +synonym: "Megacolon NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197144003] +synonym: "Megacolon, not Hirschsprung's (disorder)" EXACT [SNOMEDCT_2005_07_31:33995003] +synonym: "Megacolon, other than Hirschsprung's" EXACT [ICD9CM_2006:564.7] +xref: ICD10CM:K59.3 +xref: MSH:D008531 +xref: NCI:C34810 +xref: SNOMEDCT_US_2015_03_01:197144003 +xref: UMLS_CUI:C0025160 +is_a: DOID:5353 ! colonic disease + +[Term] +id: DOID:11374 +name: anal spasm +synonym: "anal spasm (disorder)" EXACT [SNOMEDCT_2005_07_31:17440005] +synonym: "anal spasm NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197137007] +xref: ICD10CM:K59.4 +xref: ICD9CM:564.6 +xref: SNOMEDCT_US_2015_03_01:17440005 +xref: SNOMEDCT_US_2015_03_01:197136003 +xref: SNOMEDCT_US_2015_03_01:197137007 +xref: UMLS_CUI:C0152167 +is_a: DOID:3128 ! anus disease + +[Term] +id: DOID:11377 +name: calculus of gallbladder and bile duct with acute cholecystitis +alt_id: DOID:11376 +synonym: "calculus of gallbladder and bile duct with acute cholecystitis, with obstruction" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11379 +name: gnathomiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm] +synonym: "Gnathostomiasis" EXACT [ICD9CM_2006:128.1] +synonym: "Infectious Disease by Gnathostoma (disorder)" EXACT [SNOMEDCT_2005_07_31:44086001] +xref: ICD10CM:B83.1 +xref: ICD9CM:128.1 +xref: MSH:D058429 +xref: SNOMEDCT_US_2015_03_01:44086001 +xref: UMLS_CUI:C0018013 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:1138 +name: spinal meningioma +synonym: "Spinal Cord meningioma" EXACT [NCI2004_11_17:C6935] +synonym: "Spinal meningioma (disorder)" EXACT [SNOMEDCT_2005_07_31:189167009] +xref: MSH:D008579 +xref: NCI:C6935 +xref: SNOMEDCT_US_2015_03_01:189167009 +xref: UMLS_CUI:C0347515 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:11382 +name: corneal neovascularization +synonym: "Corneal neovascularization" EXACT [ICD9CM_2006:370.6] +synonym: "Corneal neovascularization (disorder)" EXACT [SNOMEDCT_2005_07_31:19161004] +synonym: "Corneal neovascularization NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193791004] +synonym: "Corneal neovascularization, unspecified" EXACT [ICD9CM_2006:370.60] +synonym: "Unspecified corneal neovascularization (disorder)" EXACT [SNOMEDCT_2005_07_31:193789007] +xref: ICD10CM:H16.4 +xref: ICD10CM:H16.40 +xref: ICD9CM:370.6 +xref: ICD9CM:370.60 +xref: MSH:D016510 +xref: SNOMEDCT_US_2015_03_01:19161004 +xref: SNOMEDCT_US_2015_03_01:193789007 +xref: SNOMEDCT_US_2015_03_01:193791004 +xref: UMLS_CUI:C0085109 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:11383 +name: cryptorchidism +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cryptorchism" EXACT [MTHICD9_2006:752.51] +synonym: "Undescended testicle" EXACT [SNOMEDCT_2005_07_31:156967003] +synonym: "undescended testicles" EXACT [NCI2004_11_17:C12326] +synonym: "Undescended testis" EXACT [ICD9CM_2006:752.51] +xref: ICD10CM:Q53.9 +xref: ICD9CM:752.51 +xref: MSH:D003456 +xref: NCI:C12326 +xref: OMIM:219050 +xref: SNOMEDCT_US_2015_03_01:156967003 +xref: SNOMEDCT_US_2015_03_01:204878001 +xref: SNOMEDCT_US_2015_03_01:204879009 +xref: SNOMEDCT_US_2015_03_01:204882004 +xref: SNOMEDCT_US_2015_03_01:268226005 +xref: SNOMEDCT_US_2015_03_01:367721002 +xref: SNOMEDCT_US_2015_03_01:37501009 +xref: UMLS_CUI:C0010417 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:11385 +name: expressive language disorder +def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits." [url:http\://en.wikipedia.org/wiki/Expressive_language_disorder] +synonym: "Developmental expressive language disorder" EXACT [SNOMEDCT_2005_07_31:268734000] +xref: ICD10CM:F80.1 +xref: ICD9CM:315.31 +xref: NCI:C92562 +xref: SNOMEDCT_US_2015_03_01:192565006 +xref: SNOMEDCT_US_2015_03_01:229733002 +xref: SNOMEDCT_US_2015_03_01:268734000 +xref: SNOMEDCT_US_2015_03_01:80360005 +xref: UMLS_CUI:C0236826 +is_a: DOID:93 ! language disorder + +[Term] +id: DOID:11387 +name: epidural abscess +def: "Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm] +synonym: "abscess epidural" EXACT [SNOMEDCT_2005_07_31:192752004] +synonym: "Epidural abscess" EXACT [SNOMEDCT_2005_07_31:310671007] +synonym: "Epidural abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:61974008] +xref: MSH:D020802 +xref: SNOMEDCT_US_2015_03_01:192752004 +xref: SNOMEDCT_US_2015_03_01:310671007 +xref: SNOMEDCT_US_2015_03_01:61974008 +xref: UMLS_CUI:C0270629 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:11389 +name: subdural empyema +synonym: "Subdural abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:37660004] +xref: MSH:D013354 +xref: SNOMEDCT_US_2015_03_01:37660004 +xref: UMLS_CUI:C0038539 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:11390 +name: cerebral arteritis +synonym: "Cerebral arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:28366008] +xref: ICD9CM:437.4 +xref: SNOMEDCT_US_2015_03_01:28366008 +xref: UMLS_CUI:C0007773 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:11394 +name: adult respiratory distress syndrome +def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome] +comment: PRISM. +synonym: "adult RDS" EXACT [NCI2004_11_17:C3353] +synonym: "ARDS" EXACT [CSP2005:2596-8861] +synonym: "Non-cardiogenic pulmonary edema (disorder)" EXACT [SNOMEDCT_2005_07_31:95437004] +synonym: "Shock lung" EXACT [MTHICD9_2006:518.5] +xref: ICD10CM:J80 +xref: MSH:D012128 +xref: NCI:C27561 +xref: NCI:C3353 +xref: SNOMEDCT_US_2015_03_01:155627006 +xref: SNOMEDCT_US_2015_03_01:196150004 +xref: SNOMEDCT_US_2015_03_01:196154008 +xref: SNOMEDCT_US_2015_03_01:206281003 +xref: SNOMEDCT_US_2015_03_01:266411000 +xref: SNOMEDCT_US_2015_03_01:67782005 +xref: UMLS_CUI:C0035222 +is_a: DOID:11162 ! respiratory failure + +[Term] +id: DOID:11396 +name: pulmonary edema +alt_id: DOID:13472 +xref: ICD10CM:J81 +xref: ICD10CM:J81.1 +xref: MSH:D011654 +xref: NCI:C26868 +xref: SNOMEDCT_US_2015_03_01:19242006 +xref: SNOMEDCT_US_2015_03_01:196119001 +xref: SNOMEDCT_US_2015_03_01:266408001 +xref: UMLS_CUI:C0034063 +is_a: DOID:11162 ! respiratory failure + +[Term] +id: DOID:114 +name: heart disease +def: "A cardiovascular system disease that involves the heart." [url:http\://en.wikipedia.org/wiki/Heart_disease] +xref: ICD10CM:I51.9 +xref: ICD9CM:429.9 +xref: MSH:D006331 +xref: NCI:C3079 +xref: SNOMEDCT_US_2015_03_01:155263000 +xref: SNOMEDCT_US_2015_03_01:194707003 +xref: SNOMEDCT_US_2015_03_01:195152001 +xref: SNOMEDCT_US_2015_03_01:266275004 +xref: SNOMEDCT_US_2015_03_01:266311004 +xref: SNOMEDCT_US_2015_03_01:56265001 +xref: UMLS_CUI:C0018799 +is_a: DOID:1287 ! cardiovascular system disease + +[Term] +id: DOID:1140 +name: spinal canal and spinal cord meningioma +xref: NCI:C5134 +xref: UMLS_CUI:C1334264 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:11400 +name: pyelonephritis +xref: ICD10CM:N10-N16 +xref: ICD10CM:N12 +xref: ICD10CM:N16 +xref: ICD9CM:590.80 +xref: MSH:D011704 +xref: NCI:C34965 +xref: SNOMEDCT_US_2015_03_01:197779009 +xref: SNOMEDCT_US_2015_03_01:197784003 +xref: SNOMEDCT_US_2015_03_01:45816000 +xref: UMLS_CUI:C0034186 +is_a: DOID:2744 ! pyelitis + +[Term] +id: DOID:11401 +name: xanthogranulomatous pyelonephritis +synonym: "Xanthogranulomatous pyelonephritis" EXACT [SNOMEDCT_2005_07_31:197777006] +synonym: "Xanthogranulomatous pyelonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:38898003] +xref: MSH:D011705 +xref: SNOMEDCT_US_2015_03_01:197777006 +xref: SNOMEDCT_US_2015_03_01:38898003 +xref: UMLS_CUI:C0034188 +is_a: DOID:1076 ! chronic pyelonephritis + +[Term] +id: DOID:11403 +name: depressive state induced by drug +synonym: "Drug-induced depressive state (disorder)" EXACT [SNOMEDCT_2005_07_31:191495003] +synonym: "Drug-induced mood disorder" EXACT [ICD9CM_2006:292.84] +is_obsolete: true + +[Term] +id: DOID:11404 +name: diphtheritic laryngotracheitis +def: "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf, url:http\://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "laryngeal Diphtheria" EXACT [NCI2004_11_17:C34546] +synonym: "laryngeal diphtheria" EXACT [ICD9CM_2006:032.3] +synonym: "laryngeal diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:50215002] +is_obsolete: true + +[Term] +id: DOID:11405 +name: diphtheria +alt_id: DOID:4132 +def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." [url:http\://en.wikipedia.org/wiki/Diphtheria] +subset: gram-positive_bacterial_infectious_disease +synonym: "corynebacterium infection" EXACT [] +xref: MSH:D003354 +xref: SNOMEDCT_US_2015_03_01:397434007 +xref: UMLS_CUI:C0010153 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11406 +name: choroiditis +xref: ICD10CM:H30.9 +xref: MSH:D002833 +xref: NCI:C35111 +xref: SNOMEDCT_US_2015_03_01:16553002 +xref: SNOMEDCT_US_2015_03_01:193449000 +xref: UMLS_CUI:C0008526 +is_a: DOID:1417 ! choroid disease + +[Term] +id: DOID:11409 +name: syphilitic disseminated chorioretinitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic disseminated retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:77939001] +is_obsolete: true + +[Term] +id: DOID:1141 +name: alternating exotropia with V pattern +synonym: "Alternating exotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:57805002] +is_obsolete: true + +[Term] +id: DOID:11418 +name: Trichomonas urethritis +def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] +synonym: "trichomonal urethritis" EXACT [] +synonym: "Trichomonal urethritis (disorder)" EXACT [SNOMEDCT_2005_07_31:30116001] +is_obsolete: true + +[Term] +id: DOID:1142 +name: alternating exotropia +xref: ICD10CM:H50.15 +xref: ICD9CM:378.15 +xref: MSH:D005099 +xref: SNOMEDCT_US_2015_03_01:194093000 +xref: SNOMEDCT_US_2015_03_01:37214009 +xref: UMLS_CUI:C0152207 +is_a: DOID:1143 ! exotropia + +[Term] +id: DOID:11421 +name: acquired cavovarus foot deformity +synonym: "acquired cavovarus deformity of foot (disorder)" EXACT [SNOMEDCT_2005_07_31:65362007] +synonym: "Cavovarus deformity of foot, acquired" EXACT [ICD9CM_2006:736.75] +is_obsolete: true + +[Term] +id: DOID:11424 +name: fallopian tube endometriosis +synonym: "Endometriosis of fallopian tube" EXACT [ICD9CM_2006:617.2] +synonym: "Endometriosis of fallopian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:22611009] +xref: ICD10CM:N80.2 +xref: ICD9CM:617.2 +xref: NCI:C26763 +xref: SNOMEDCT_US_2015_03_01:22611009 +xref: UMLS_CUI:C0014177 +is_a: DOID:1962 ! fallopian tube disease +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:11427 +name: endosalpingiosis +synonym: "Endosalpingiosis (disorder)" EXACT [SNOMEDCT_2005_07_31:55850004] +xref: NCI:C40121 +xref: SNOMEDCT_US_2015_03_01:55850004 +xref: UMLS_CUI:C0269106 +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:11428 +name: endometriosis of intestine +xref: ICD10CM:N80.5 +xref: ICD9CM:617.5 +xref: SNOMEDCT_US_2015_03_01:198255005 +xref: SNOMEDCT_US_2015_03_01:5562006 +xref: UMLS_CUI:C0156347 +is_a: DOID:289 ! endometriosis +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:11429 +name: endometriosis of pelvic peritoneum +synonym: "Endometriosis of pelvic peritoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:198251001] +synonym: "Endometriosis of the pelvic peritoneum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198252008] +xref: ICD10CM:N80.3 +xref: ICD9CM:617.3 +xref: SNOMEDCT_US_2015_03_01:198251001 +xref: SNOMEDCT_US_2015_03_01:198252008 +xref: UMLS_CUI:C0156345 +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:1143 +name: exotropia +synonym: "Divergent concomitant strabismus" EXACT [MTHICD9_2006:378.1] +synonym: "Divergent concomitant strabismus (disorder)" EXACT [SNOMEDCT_2005_07_31:399252000] +synonym: "Divergent Strabismus" EXACT [NCI2004_11_17:C34601] +synonym: "Exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:399054005] +synonym: "Exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:75400001] +synonym: "Exotropia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194098009] +synonym: "Exotropia, unspecified" EXACT [ICD9CM_2006:378.10] +synonym: "Unspecified exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194086004] +xref: ICD10CM:H50.1 +xref: ICD10CM:H50.10 +xref: ICD9CM:378.1 +xref: ICD9CM:378.10 +xref: MSH:D005099 +xref: NCI:C34601 +xref: SNOMEDCT_US_2015_03_01:155194007 +xref: SNOMEDCT_US_2015_03_01:194086004 +xref: SNOMEDCT_US_2015_03_01:194098009 +xref: SNOMEDCT_US_2015_03_01:399054005 +xref: SNOMEDCT_US_2015_03_01:399252000 +xref: SNOMEDCT_US_2015_03_01:75400001 +xref: UMLS_CUI:C0015310 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:11430 +name: endometriosis in scar of skin +synonym: "Endometriosis in scar of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:53913001] +xref: ICD10CM:N80.6 +xref: ICD9CM:617.6 +xref: SNOMEDCT_US_2015_03_01:53913001 +xref: UMLS_CUI:C0156348 +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:11431 +name: endometriosis of rectovaginal septum and vagina +synonym: "Endometriosis of rectovaginal septum and vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:198253003] +synonym: "Endometriosis of the rectovaginal septum and vagina NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198254009] +xref: ICD10CM:N80.4 +xref: ICD9CM:617.4 +xref: SNOMEDCT_US_2015_03_01:198253003 +xref: SNOMEDCT_US_2015_03_01:198254009 +xref: UMLS_CUI:C0156346 +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:11432 +name: endometriosis of ovary +alt_id: DOID:11426 +synonym: "ovarian endometriosis" EXACT [] +xref: ICD10CM:N80.1 +xref: ICD9CM:617.1 +xref: NCI:C27628 +xref: SNOMEDCT_US_2015_03_01:198250000 +xref: SNOMEDCT_US_2015_03_01:266589005 +xref: SNOMEDCT_US_2015_03_01:31007005 +xref: UMLS_CUI:C0156344 +is_a: DOID:289 ! endometriosis + +[Term] +id: DOID:11436 +name: recurrent cholesteatoma post-mastoidectomy +synonym: "recurrent cholesteatoma of postmastoidectomy cavity" EXACT [ICD9CM_2006:383.32] +synonym: "recurrent cholesteatoma of postmastoidectomy cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:55417009] +is_obsolete: true + +[Term] +id: DOID:11441 +name: macrodactylia of toes +synonym: "Macrodactylia of toes (disorder)" EXACT [SNOMEDCT_2005_07_31:4136000] +is_obsolete: true + +[Term] +id: DOID:11442 +name: malignant mast cell tumors involving lymph node of head +synonym: "malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93204001] +synonym: "malignant mast cell tumors involving lymph nodes of head, face, and neck" EXACT [ICD9CM_2006:202.61] +synonym: "Mast cell malignancy of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188662007] +is_obsolete: true + +[Term] +id: DOID:11446 +name: sciatic neuropathy +comment: PRISM. +xref: MSH:D020426 +xref: SNOMEDCT_US_2015_03_01:52585001 +xref: UMLS_CUI:C0149940 +is_a: DOID:12528 ! lesion of sciatic nerve + +[Term] +id: DOID:11450 +name: allergic cutaneous vasculitis +def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin." [sn:IEDB] +synonym: "Allergic Cutaneous Angiitis" EXACT [NCI2004_11_17:C35119] +synonym: "Autoimmune Hypersensitivity angiitis" EXACT [] +is_a: DOID:9809 ! hypersensitivity vasculitis + +[Term] +id: DOID:11451 +name: secondary syphilitic meningitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "acute secondary syphilitic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186863009] +synonym: "acute syphilitic meningitis (secondary)" EXACT [ICD9CM_2006:091.81] +synonym: "secondary acute syphilitic meningitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11452 +name: perinatal jaundice due to hepatocellular damage +synonym: "Perinatal jaundice due to hepatocellular damage (disorder)" EXACT [SNOMEDCT_2005_07_31:10877007] +synonym: "Perinatal jaundice due to hepatocellular damage NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206467002] +xref: ICD9CM:774.4 +xref: SNOMEDCT_US_2015_03_01:10877007 +xref: SNOMEDCT_US_2015_03_01:206463003 +xref: SNOMEDCT_US_2015_03_01:206467002 +xref: UMLS_CUI:C0158976 +is_a: DOID:2383 ! neonatal jaundice + +[Term] +id: DOID:11457 +name: brain compression +synonym: "Compression of brain" EXACT [ICD9CM_2006:348.4] +synonym: "Compression of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:46963008] +synonym: "Compression of brain NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193053006] +xref: ICD10CM:G93.5 +xref: ICD9CM:348.4 +xref: SNOMEDCT_US_2015_03_01:193053006 +xref: SNOMEDCT_US_2015_03_01:46963008 +xref: UMLS_CUI:C0009592 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:11459 +name: pseudotumor cerebri +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign intracran. hypt." EXACT [SNOMEDCT_2005_07_31:267701004] +synonym: "benign intracran. hypt." EXACT [SNOMEDCT_2005_07_31:155052007] +synonym: "benign intracranial hypertension" EXACT [ICD9CM_2006:348.2] +synonym: "benign intracranial hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:68267002] +synonym: "idiopathic intracranial hypertension" EXACT [] +synonym: "Pseudotumor cerebri" EXACT [MTHICD9_2006:348.2] +xref: ICD10CM:G93.2 +xref: ICD9CM:348.2 +xref: MSH:D011559 +xref: NCI:C85035 +xref: OMIM:243200 +xref: SNOMEDCT_US_2015_03_01:155052007 +xref: SNOMEDCT_US_2015_03_01:267701004 +xref: SNOMEDCT_US_2015_03_01:68267002 +xref: UMLS_CUI:C0033845 +is_a: DOID:6713 ! cerebrovascular disease +is_a: DOID:9428 ! intracranial hypertension + +[Term] +id: DOID:11465 +name: autonomic nervous system disease +synonym: "autonomic nervous system disorder" EXACT [] +xref: ICD9CM:337.1 +xref: UMLS_CUI:C0154691 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:11472 +name: subglottis cancer +synonym: "Ca larynx - subglottis" EXACT [SNOMEDCT_2005_07_31:154483008] +synonym: "Ca larynx - subglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:269559002] +synonym: "malignant Subglottic tumor" EXACT [NCI2004_11_17:C3546] +synonym: "malignant tumor of subglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:363430007] +xref: ICD10CM:C32.2 +xref: ICD9CM:161.2 +xref: NCI:C3546 +xref: SNOMEDCT_US_2015_03_01:154483008 +xref: SNOMEDCT_US_2015_03_01:269559002 +xref: SNOMEDCT_US_2015_03_01:363430007 +xref: SNOMEDCT_US_2015_03_01:94075002 +xref: UMLS_CUI:C0153485 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:11476 +name: osteoporosis +def: "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." [url:http\://en.wikipedia.org/wiki/Osteoporosis, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00232, url:http\://www.emedicinehealth.com/osteoporosis/article_em.htm, url:http\://www.mayoclinic.com/health/osteoporosis/DS00128, url:http\://www.medicinenet.com/osteoporosis/article.htm, url:http\://www.niams.nih.gov/Health_Info/Bone/default.asp, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000360.htm, url:http\://www.nof.org/] +comment: Xref MGI. +subset: DO_MGI_slim +xref: EFO:0003882 +xref: ICD10CM:M81.0 +xref: ICD9CM:733.0 +xref: ICD9CM:733.00 +xref: MSH:D010024 +xref: NCI:C3298 +xref: OMIM:166710 +xref: SNOMEDCT_US_2015_03_01:156825006 +xref: SNOMEDCT_US_2015_03_01:203428004 +xref: SNOMEDCT_US_2015_03_01:203440004 +xref: SNOMEDCT_US_2015_03_01:64859006 +xref: UMLS_CUI:C0029456 +is_a: DOID:0080011 ! bone resorption disease + +[Term] +id: DOID:1148 +name: polydactyly +alt_id: DOID:14779 +synonym: "postaxial polydactyly" EXACT [] +synonym: "Supernumerary digit" RELATED [SNOMEDCT_2005_07_31:205119005] +xref: ICD10CM:Q69 +xref: ICD10CM:Q69.9 +xref: ICD9CM:755.0 +xref: ICD9CM:755.00 +xref: MSH:C562429 +xref: MSH:D017689 +xref: NCI:C87110 +xref: OMIM:174200 +xref: OMIM:174500 +xref: OMIM:174700 +xref: OMIM:603596 +xref: SNOMEDCT_US_2015_03_01:156988007 +xref: SNOMEDCT_US_2015_03_01:205119005 +xref: SNOMEDCT_US_2015_03_01:205120004 +xref: SNOMEDCT_US_2015_03_01:205136002 +xref: SNOMEDCT_US_2015_03_01:367506006 +xref: SNOMEDCT_US_2015_03_01:403562000 +xref: SNOMEDCT_US_2015_03_01:74537000 +xref: UMLS_CUI:C0152427 +xref: UMLS_CUI:C0220697 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:11481 +name: constrictive pericarditis +synonym: "Constrictive pericarditis" EXACT [SNOMEDCT_2005_07_31:155340008] +synonym: "Constrictive pericarditis" EXACT [ICD9CM_2006:423.2] +synonym: "Constrictive pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:85598007] +synonym: "Constrictive pericarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194969008] +xref: ICD9CM:423.2 +xref: MSH:D010494 +xref: NCI:C78246 +xref: SNOMEDCT_US_2015_03_01:155340008 +xref: SNOMEDCT_US_2015_03_01:194969008 +xref: SNOMEDCT_US_2015_03_01:85598007 +xref: UMLS_CUI:C0031048 +is_a: DOID:1787 ! pericarditis + +[Term] +id: DOID:11482 +name: hemopericardium +def: "A pericardial effusion that results from blood in the pericardial sac." [url:http\://en.wikipedia.org/wiki/Hemopericardium] +synonym: "Haemopericardium" EXACT [SNOMEDCT_2005_07_31:155339006] +xref: ICD9CM:423.0 +xref: MSH:D010490 +xref: NCI:C111644 +xref: SNOMEDCT_US_2015_03_01:155339006 +xref: SNOMEDCT_US_2015_03_01:23412002 +xref: UMLS_CUI:C0019064 +is_a: DOID:118 ! pericardial effusion + +[Term] +id: DOID:11486 +name: Horner's syndrome +synonym: "Bernard Horner syndrome" EXACT [CSP2005:1114-9021] +synonym: "cervical sympathetic paralysis" EXACT [SNOMEDCT_2005_07_31:12731000] +synonym: "Horner syndrome" EXACT [] +xref: ICD10CM:G90.2 +xref: MSH:D006732 +xref: NCI:C28155 +xref: SNOMEDCT_US_2015_03_01:12731000 +xref: SNOMEDCT_US_2015_03_01:192922002 +xref: UMLS_CUI:C0019937 +is_a: DOID:11504 ! autonomic neuropathy + +[Term] +id: DOID:11488 +name: idiopathic peripheral autonomic neuropathy +synonym: "Idiopathic peripheral autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:86489003] +synonym: "Idiopathic peripheral autonomic neuropathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192916006] +xref: ICD10CM:G90.0 +xref: ICD10CM:G90.09 +xref: ICD9CM:337.0 +xref: SNOMEDCT_US_2015_03_01:192914009 +xref: SNOMEDCT_US_2015_03_01:192916006 +xref: SNOMEDCT_US_2015_03_01:86489003 +xref: UMLS_CUI:C0154690 +is_a: DOID:11465 ! autonomic nervous system disease + +[Term] +id: DOID:11489 +name: vitamin A deficiency with conjunctival xerosis and Bitot's spot +synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:49340009] +synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:190610009] +is_obsolete: true + +[Term] +id: DOID:11490 +name: vitamin A deficiency with night blindness +synonym: "vitamin A deficiency with night blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:15509004] +is_obsolete: true + +[Term] +id: DOID:11491 +name: acquired night blindness +synonym: "acquired night blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:53808001] +xref: ICD10CM:H53.62 +xref: ICD9CM:368.62 +xref: SNOMEDCT_US_2015_03_01:53808001 +xref: UMLS_CUI:C0152202 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:115 +name: cardiac tamponade +def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch." [url:http\://en.wikipedia.org/wiki/Cardiac_tamponade, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000194.htm] +synonym: "pericardial tamponade" EXACT [] +synonym: "Rose's tamponade" EXACT [CSP2005:1393-3373] +xref: ICD10CM:I31.4 +xref: ICD9CM:423.3 +xref: MSH:D002305 +xref: NCI:C50481 +xref: SNOMEDCT_US_2015_03_01:155341007 +xref: SNOMEDCT_US_2015_03_01:194975004 +xref: SNOMEDCT_US_2015_03_01:266295005 +xref: SNOMEDCT_US_2015_03_01:35304003 +xref: UMLS_CUI:C0007177 +is_a: DOID:118 ! pericardial effusion + +[Term] +id: DOID:1150 +name: bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:11173 +alt_id: DOID:1149 +alt_id: DOID:1292 +synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, antepartum" EXACT [] +synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, postpartum" EXACT [] +synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, with delivery" EXACT [] +synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum" EXACT [ICD9CM_2006:648.73] +synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum" EXACT [ICD9CM_2006:648.74] +synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery" EXACT [ICD9CM_2006:648.71] +is_obsolete: true + +[Term] +id: DOID:11502 +name: mitral valve insufficiency +alt_id: DOID:11737 +alt_id: DOID:13947 +synonym: "Congenital insufficiency of mitral valve (disorder)" EXACT [SNOMEDCT_2005_07_31:29928006] +synonym: "congenital mitral insufficiency" EXACT [SNOMEDCT_2005_07_31:233857005] +synonym: "congenital mitral regurgitation" EXACT [] +synonym: "mitral regurgitation" EXACT [CSP2005:1393-3923] +synonym: "Mitral valve incompetence" EXACT [SNOMEDCT_2005_07_31:194977007] +xref: ICD10CM:Q23.3 +xref: ICD9CM:396.3 +xref: ICD9CM:746.6 +xref: MSH:D008944 +xref: NCI:C50852 +xref: NCI:C50888 +xref: SNOMEDCT_US_2015_03_01:194736003 +xref: SNOMEDCT_US_2015_03_01:194977007 +xref: SNOMEDCT_US_2015_03_01:233857005 +xref: SNOMEDCT_US_2015_03_01:29928006 +xref: SNOMEDCT_US_2015_03_01:48724000 +xref: UMLS_CUI:C0026266 +xref: UMLS_CUI:C0158619 +xref: UMLS_CUI:C0264774 +is_a: DOID:61 ! mitral valve disease + +[Term] +id: DOID:11503 +name: diabetic autonomic neuropathy +synonym: "Diabetic autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:50620007] +xref: MSH:D003929 +xref: NCI:C27068 +xref: SNOMEDCT_US_2015_03_01:50620007 +xref: UMLS_CUI:C0271686 +is_a: DOID:11504 ! autonomic neuropathy +is_a: DOID:9743 ! diabetic neuropathy + +[Term] +id: DOID:11504 +name: autonomic neuropathy +xref: CSP:2042-2001 +xref: CSP:2049-9000 +xref: NCI:C27033 +xref: SNOMEDCT_US_2015_03_01:277879009 +xref: UMLS_CUI:C0259749 +is_a: DOID:11465 ! autonomic nervous system disease + +[Term] +id: DOID:11506 +name: suppurative otitis media +def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false] +synonym: "Otitis media with effusion - purulent" EXACT [SNOMEDCT_2005_07_31:38394007] +synonym: "Otitis media with effusion - purulent" EXACT [SNOMEDCT_2005_07_31:194258000] +synonym: "Purulent otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:39288006] +synonym: "Purulent otitis media NOS" EXACT [MTHICD9_2006:382.4] +synonym: "Purulent otitis media NOS" EXACT [SNOMEDCT_2005_07_31:155229002] +synonym: "Purulent otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194285007] +synonym: "Suppurative and unspecified otitis media" EXACT [ICD9CM_2006:382] +synonym: "Suppurative and unspecified otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:194280002] +synonym: "Suppurative otitis med." EXACT [SNOMEDCT_2005_07_31:267758003] +synonym: "Suppurative otitis media" EXACT [MTH:NOCODE] +synonym: "Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media" EXACT [SNOMEDCT_2005_07_31:155225008] +synonym: "Unspecified suppurative otitis media" EXACT [ICD9CM_2006:382.4] +xref: ICD10CM:H66 +xref: ICD10CM:H66.4 +xref: ICD10CM:H66.40 +xref: ICD9CM:382 +xref: ICD9CM:382.4 +xref: MSH:D010035 +xref: SNOMEDCT_US_2015_03_01:155229002 +xref: SNOMEDCT_US_2015_03_01:194258000 +xref: SNOMEDCT_US_2015_03_01:194280002 +xref: SNOMEDCT_US_2015_03_01:194285007 +xref: SNOMEDCT_US_2015_03_01:267758003 +xref: SNOMEDCT_US_2015_03_01:38394007 +xref: SNOMEDCT_US_2015_03_01:39288006 +xref: UMLS_CUI:C0029888 +is_a: DOID:10754 ! otitis media + +[Term] +id: DOID:11507 +name: rumination disorder +def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption." [url:http\://en.wikipedia.org/wiki/Rumination_syndrome] +synonym: "Psychogenic rumination (disorder)" EXACT [SNOMEDCT_2005_07_31:192014006] +xref: ICD9CM:307.53 +xref: MSH:D019959 +xref: NCI:C92567 +xref: SNOMEDCT_US_2015_03_01:37941009 +xref: UMLS_CUI:C0154575 +is_a: DOID:8670 ! eating disorder + +[Term] +id: DOID:11512 +name: hepatic vein thrombosis +synonym: "Budd-Chiari syndrome" EXACT [ICD9CM_2006:453.0] +xref: ICD10CM:I82.0 +xref: MSH:D006502 +xref: SNOMEDCT_US_2015_03_01:195436007 +xref: SNOMEDCT_US_2015_03_01:38739001 +xref: UMLS_CUI:C0019154 +is_a: DOID:272 ! hepatic vascular disease + +[Term] +id: DOID:11514 +name: fissured tongue +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital fissure of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:3803006] +synonym: "Congenital plicated tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:204631004] +synonym: "Fissure of tongue" EXACT [SNOMEDCT_2005_07_31:204627005] +synonym: "Fissure of tongue, congenital" EXACT [ICD9CM_2006:750.13] +synonym: "Furrowed tongue" EXACT [MTHICD9_2006:529.5] +synonym: "GEOGRAPHIC TONGUE AND FISSURED TONGUE" EXACT [] +synonym: "lingua plicata" EXACT [] +synonym: "Plicated tongue" EXACT [ICD9CM_2006:529.5] +synonym: "Plicated tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:52368004] +synonym: "scrotal tongue" EXACT [] +synonym: "Tongue, Fissured" EXACT [] +xref: ICD10CM:K14.5 +xref: ICD9CM:529.5 +xref: MSH:D014063 +xref: OMIM:137400 +xref: SNOMEDCT_US_2015_03_01:204627005 +xref: SNOMEDCT_US_2015_03_01:52368004 +xref: UMLS_CUI:C0040412 +is_a: DOID:10944 ! tongue disease + +[Term] +id: DOID:11516 +name: hypertensive heart disease +def: "A heart disease that is caused by high blood pressure." [url:http\://en.wikipedia.org/wiki/Heart_disease, url:http\://en.wikipedia.org/wiki/Hypertensive_heart_disease] +xref: ICD10CM:I11 +xref: ICD10CM:I11.9 +xref: ICD9CM:402 +xref: ICD9CM:402.9 +xref: SNOMEDCT_US_2015_03_01:155297007 +xref: SNOMEDCT_US_2015_03_01:194769003 +xref: SNOMEDCT_US_2015_03_01:194772005 +xref: SNOMEDCT_US_2015_03_01:64715009 +xref: UMLS_CUI:C0152105 +is_a: DOID:114 ! heart disease + +[Term] +id: DOID:11518 +name: abnormal pupillary function +xref: ICD10CM:H57.09 +xref: ICD9CM:379.49 +xref: UMLS_CUI:C0155376 +is_a: DOID:238 ! pupil disease + +[Term] +id: DOID:11520 +name: benign hypertensive renal disease +synonym: "benign hypertensive renal disease (disorder)" EXACT [SNOMEDCT_2005_07_31:193003] +synonym: "hypertensive renal disease, benign" EXACT [ICD9CM_2006:403.1] +synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [ICD9CM_2006:403.10] +xref: ICD9CM:403.1 +xref: ICD9CM:403.10 +xref: SNOMEDCT_US_2015_03_01:193003 +xref: UMLS_CUI:C0155596 +is_a: DOID:1073 ! renal hypertension + +[Term] +id: DOID:11523 +name: Clostridium perfringens gastroenteritis +def: "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm, url:http\://www.merck.com/mmpe/sec14/ch178/ch178g.html] +subset: gram-positive_bacterial_infectious_disease +synonym: "Clostridium perfringens food poisoning" EXACT [SNOMEDCT_2005_07_31:186111000] +synonym: "Food poisoning due to C. welchii" EXACT [MTHICD9_2006:005.2] +synonym: "food poisoning due to clostridium perfringens" EXACT [] +synonym: "Food poisoning due to Clostridium perfringens (disorder)" EXACT [SNOMEDCT_2005_07_31:70014009] +synonym: "Food poisoning due to Clostridium perfringens [C. welchii]" EXACT [ICD9CM_2006:005.2] +is_obsolete: true + +[Term] +id: DOID:11524 +name: Hyphema of iris and ciliary body +is_obsolete: true + +[Term] +id: DOID:11525 +name: Iris and ciliary body vascular disorder +synonym: "vascular disorder of iris and ciliary body" EXACT [ICD9CM_2006:364.4] +is_obsolete: true + +[Term] +id: DOID:11527 +name: laryngostenosis +synonym: "Stenosis of larynx" EXACT [SNOMEDCT_2005_07_31:195864007] +synonym: "Stenosis of larynx" EXACT [ICD9CM_2006:478.74] +synonym: "Stenosis of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:75547007] +xref: ICD10CM:J38.6 +xref: ICD9CM:478.74 +xref: MSH:D007829 +xref: NCI:C79608 +xref: SNOMEDCT_US_2015_03_01:195864007 +xref: SNOMEDCT_US_2015_03_01:75547007 +xref: UMLS_CUI:C0023075 +is_a: DOID:786 ! laryngeal disease + +[Term] +id: DOID:11533 +name: hereditary sensory and autonomic neuropathy +synonym: "Hereditary sensory and autonomic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128205005] +is_obsolete: true + +[Term] +id: DOID:11535 +name: dysplasia of prostate +is_obsolete: true + +[Term] +id: DOID:11541 +name: recurrent corneal erosion +synonym: "recurrent erosion of cornea" EXACT [ICD9CM_2006:371.42] +synonym: "recurrent erosion syndrome" EXACT [SNOMEDCT_2005_07_31:2055003] +xref: ICD10CM:H18.83 +xref: ICD9CM:371.42 +xref: SNOMEDCT_US_2015_03_01:155157003 +xref: SNOMEDCT_US_2015_03_01:2055003 +xref: SNOMEDCT_US_2015_03_01:267732003 +xref: UMLS_CUI:C0155119 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:11543 +name: corneal abscess +synonym: "Corneal abscess" EXACT [NCI2004_11_17:C26969] +synonym: "Corneal abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:64366002] +xref: ICD10CM:H16.31 +xref: ICD9CM:370.55 +xref: NCI:C26969 +xref: SNOMEDCT_US_2015_03_01:64366002 +xref: UMLS_CUI:C0155091 +is_a: DOID:9858 ! deep keratitis + +[Term] +id: DOID:11547 +name: corneal deposit +synonym: "Corneal deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:74460005] +synonym: "Corneal deposit, unspecified" EXACT [ICD9CM_2006:371.10] +synonym: "Deposits - cornea" EXACT [SNOMEDCT_2005_07_31:193803001] +synonym: "Unspecified corneal deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:193804007] +xref: ICD10CM:H18.00 +xref: ICD9CM:371.10 +xref: SNOMEDCT_US_2015_03_01:193803001 +xref: SNOMEDCT_US_2015_03_01:193804007 +xref: SNOMEDCT_US_2015_03_01:74460005 +xref: UMLS_CUI:C0162281 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:11549 +name: Adie syndrome +def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." [url:http\://en.wikipedia.org/wiki/Adie_syndrome, url:http\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Adie's pupil or syndrome" EXACT [MTHICD9_2006:379.46] +synonym: "Adie's pupil syndrome" EXACT [SNOMEDCT_2005_07_31:24225004] +synonym: "Adie's syndrome" EXACT [] +synonym: "Holmes-Adie syndrome" EXACT [NCI2004_11_17:C34357] +xref: MSH:D000270 +xref: NCI:C34357 +xref: OMIM:103100 +xref: SNOMEDCT_US_2015_03_01:123051004 +xref: SNOMEDCT_US_2015_03_01:24225004 +xref: UMLS_CUI:C0001519 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:11550 +name: oculomotor nerve paralysis +synonym: "III nerve palsy" EXACT [SNOMEDCT_2005_07_31:12900003] +synonym: "III nerve palsy" EXACT [SNOMEDCT_2005_07_31:388980004] +synonym: "IIIrd nerve Paralysis" EXACT [NCI2004_11_17:C27597] +synonym: "Third cranial nerve paralysis, NOS" EXACT [SNOMEDCT_2005_07_31:30764004] +xref: ICD10CM:H49.0 +xref: MSH:D015840 +xref: NCI:C27597 +xref: SNOMEDCT_US_2015_03_01:12900003 +xref: SNOMEDCT_US_2015_03_01:30764004 +xref: SNOMEDCT_US_2015_03_01:388980004 +xref: UMLS_CUI:C0028866 +is_a: DOID:562 ! third cranial nerve disease + +[Term] +id: DOID:11552 +name: Bowman's membrane folds or rupture +synonym: "Bowman membrane folds or rupture" EXACT [] +xref: ICD10CM:H18.31 +xref: ICD9CM:371.31 +xref: SNOMEDCT_US_2015_03_01:193820002 +xref: SNOMEDCT_US_2015_03_01:45382000 +xref: UMLS_CUI:C0155115 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:11554 +name: Chandler syndrome +synonym: "Chandler syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:392481002] +synonym: "Chandler's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:404632009] +synonym: "Dystrophy of corneal endothelium" EXACT [SNOMEDCT_2005_07_31:416960004] +synonym: "Endothelial corneal dystrophy" EXACT [ICD9CM_2006:371.57] +synonym: "Endothelial corneal dystrophy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:16949007] +synonym: "Posterior membrane corneal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:231935005] +xref: ICD10CM:H18.51 +xref: ICD9CM:371.57 +xref: MSH:D057129 +xref: SNOMEDCT_US_2015_03_01:16949007 +xref: SNOMEDCT_US_2015_03_01:231935005 +xref: SNOMEDCT_US_2015_03_01:392481002 +xref: SNOMEDCT_US_2015_03_01:404632009 +xref: SNOMEDCT_US_2015_03_01:416960004 +xref: UMLS_CUI:C0544008 +is_a: DOID:2566 ! corneal dystrophy + +[Term] +id: DOID:11555 +name: Fuchs' endothelial dystrophy +def: "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision." [url:http\://en.wikipedia.org/wiki/Fuchs%27_dystrophy, url:http\://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy, url:http\://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1, url:http\://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "FCED" EXACT [] +synonym: "Fuchs' corneal dystrophy" EXACT [SNOMEDCT_2005_07_31:393581005] +synonym: "Fuchs' endothelial corneal dystrophy" EXACT [SNOMEDCT_2005_07_31:193839007] +xref: EFO:0003946 +xref: ICD10CM:H18.51 +xref: MSH:D005642 +xref: NCI:C84721 +xref: OMIM:136800 +xref: OMIM:610158 +xref: OMIM:613267 +xref: OMIM:613268 +xref: OMIM:613269 +xref: OMIM:613270 +xref: OMIM:613271 +xref: OMIM:615523 +xref: ORDO:98974 +xref: SNOMEDCT_US_2015_03_01:16949007 +xref: SNOMEDCT_US_2015_03_01:193839007 +xref: SNOMEDCT_US_2015_03_01:393581005 +xref: UMLS_CUI:C0016781 +is_a: DOID:0060443 ! endothelial dystrophy + +[Term] +id: DOID:11557 +name: acute serous otitis media +def: "A acute transudative otitis media with thin, watery and sterile effusion." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] +synonym: "acute non-suppurative otitis media - serous (disorder)" EXACT [SNOMEDCT_2005_07_31:194240006] +synonym: "acute serous otitis media (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:11957006] +xref: ICD10CM:H65.0 +xref: ICD10CM:H65.00 +xref: ICD9CM:381.01 +xref: SNOMEDCT_US_2015_03_01:11957006 +xref: SNOMEDCT_US_2015_03_01:194240006 +xref: UMLS_CUI:C0155415 +is_a: DOID:3697 ! acute transudative otitis media + +[Term] +id: DOID:11558 +name: acute allergic serous otitis media +def: "A acute serous otitis media caused by an allergen." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] +synonym: "acute allergic serous otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:59275002] +xref: ICD9CM:381.04 +xref: SNOMEDCT_US_2015_03_01:194241005 +xref: SNOMEDCT_US_2015_03_01:59275002 +xref: UMLS_CUI:C0155418 +is_a: DOID:11557 ! acute serous otitis media + +[Term] +id: DOID:1156 +name: chondrocalcinosis +alt_id: DOID:11303 +alt_id: DOID:1155 +alt_id: DOID:12090 +alt_id: DOID:12102 +alt_id: DOID:12945 +alt_id: DOID:13298 +alt_id: DOID:13299 +alt_id: DOID:13301 +alt_id: DOID:13302 +alt_id: DOID:13303 +alt_id: DOID:13304 +alt_id: DOID:14143 +alt_id: DOID:14220 +alt_id: DOID:14513 +alt_id: DOID:1834 +alt_id: DOID:1945 +alt_id: DOID:2486 +def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint." [url:http\://en.wikipedia.org/wiki/Chondrocalcinosis, url:http\://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx, url:http\://www.mayoclinic.com/health/pseudogout/DS00717, url:http\://www.merckmanuals.com/professional/sec04/ch035/ch035c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000421.htm, url:http\://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "calcium pyrophosphate deposition disease" EXACT [] +synonym: "pseudogout" EXACT [] +xref: HP:0000934 +xref: ICD9CM:712.1 +xref: MSH:D002805 +xref: NCI:C34955 +xref: OMIM:118600 +xref: OMIM:118610 +xref: OMIM:600668 +xref: ORDO:1416 +xref: SNOMEDCT_US_2015_03_01:156881000 +xref: SNOMEDCT_US_2015_03_01:201624004 +xref: SNOMEDCT_US_2015_03_01:201625003 +xref: SNOMEDCT_US_2015_03_01:201636005 +xref: SNOMEDCT_US_2015_03_01:239834007 +xref: SNOMEDCT_US_2015_03_01:268142006 +xref: SNOMEDCT_US_2015_03_01:60782007 +xref: UMLS_CUI:C0033802 +xref: UMLS_CUI:C0157852 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:11561 +name: hypertensive retinopathy +xref: ICD10CM:H35.03 +xref: ICD9CM:362.11 +xref: MSH:D058437 +xref: NCI:C3514 +xref: SNOMEDCT_US_2015_03_01:155108001 +xref: SNOMEDCT_US_2015_03_01:193356005 +xref: SNOMEDCT_US_2015_03_01:193358006 +xref: SNOMEDCT_US_2015_03_01:421731000 +xref: SNOMEDCT_US_2015_03_01:422001004 +xref: SNOMEDCT_US_2015_03_01:6962006 +xref: UMLS_CUI:C0152132 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:11563 +name: retinal vasculitis +synonym: "Retinal vasculitis" EXACT [ICD9CM_2006:362.18] +synonym: "Retinal vasculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:77628002] +synonym: "Retinal vasculitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193367006] +xref: ICD10CM:H35.06 +xref: ICD9CM:362.18 +xref: MSH:D031300 +xref: SNOMEDCT_US_2015_03_01:193367006 +xref: SNOMEDCT_US_2015_03_01:77628002 +xref: UMLS_CUI:C0152026 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:11569 +name: neurocirculatory asthenia +def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities." [url:http\://en.wikipedia.org/wiki/Da_Costa%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/] +synonym: "Cardiovascular malfunction arising from mental factors" EXACT [ICD9CM_2006:306.2] +synonym: "Cardiovascular neurosis" EXACT [MTHICD9_2006:306.2] +synonym: "Da Costa's syndrome" EXACT [SNOMEDCT_2005_07_31:46219009] +synonym: "Krishaber's disease" EXACT [SNOMEDCT_2005_07_31:72994002] +xref: ICD9CM:306.2 +xref: MSH:D009449 +xref: SNOMEDCT_US_2015_03_01:154922007 +xref: SNOMEDCT_US_2015_03_01:191960008 +xref: SNOMEDCT_US_2015_03_01:191961007 +xref: SNOMEDCT_US_2015_03_01:191962000 +xref: SNOMEDCT_US_2015_03_01:191963005 +xref: SNOMEDCT_US_2015_03_01:192434000 +xref: SNOMEDCT_US_2015_03_01:46219009 +xref: SNOMEDCT_US_2015_03_01:72994002 +xref: UMLS_CUI:C0027821 +is_a: DOID:4737 ! somatoform disorder + +[Term] +id: DOID:11572 +name: Listeria meningitis +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: MSH:D008584 +xref: SNOMEDCT_US_2015_03_01:230151007 +xref: SNOMEDCT_US_2015_03_01:31568009 +xref: UMLS_CUI:C0025293 +is_a: DOID:9470 ! bacterial meningitis + +[Term] +id: DOID:11573 +name: listeriosis +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." [url:http\://emedicine.medscape.com/article/965841-overview#a0104, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001380.htm] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Infection by Listeria monocytogenes" EXACT [MTHICD9_2006:027.0] +synonym: "Infection due to Listeria monocytogenes (disorder)" EXACT [SNOMEDCT_2005_07_31:406591006] +synonym: "Listeria infection" EXACT [CSP2005:0368-3200] +synonym: "Listeriosis (disorder)" EXACT [SNOMEDCT_2005_07_31:4241002] +synonym: "Listeriosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186320001] +synonym: "Listeriosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187320005] +xref: ICD10CM:A32 +xref: ICD10CM:A32.9 +xref: ICD9CM:027.0 +xref: MSH:D008088 +xref: NCI:C82994 +xref: SNOMEDCT_US_2015_03_01:186315001 +xref: SNOMEDCT_US_2015_03_01:186320001 +xref: SNOMEDCT_US_2015_03_01:187320005 +xref: SNOMEDCT_US_2015_03_01:406591006 +xref: SNOMEDCT_US_2015_03_01:4241002 +xref: UMLS_CUI:C0023860 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11574 +name: streptococcal meningitis +synonym: "Streptococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:4510004] +xref: ICD10CM:G00.2 +xref: ICD9CM:320.2 +xref: SNOMEDCT_US_2015_03_01:4510004 +xref: UMLS_CUI:C0154639 +is_a: DOID:9470 ! bacterial meningitis + +[Term] +id: DOID:11575 +name: pneumococcal meningitis +subset: gram-positive_bacterial_infectious_disease +synonym: "Pneumococcal meningitis" EXACT [ICD9CM_2006:320.1] +synonym: "Pneumococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:51169003] +is_obsolete: true + +[Term] +id: DOID:11577 +name: Cauda equina syndrome +def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." [url:http\://en.wikipedia.org/wiki/Cauda_equina_syndrome] +xref: ICD10CM:G83.4 +xref: ICD9CM:344.6 +xref: MSH:D011128 +xref: NCI:C35436 +xref: SNOMEDCT_US_2015_03_01:155032006 +xref: SNOMEDCT_US_2015_03_01:192970008 +xref: SNOMEDCT_US_2015_03_01:192972000 +xref: SNOMEDCT_US_2015_03_01:192973005 +xref: SNOMEDCT_US_2015_03_01:89356000 +xref: UMLS_CUI:C0392548 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:11578 +name: Escherichia coli meningitis +subset: gram-negative_bacterial_infectious_disease +synonym: "Escherichia coli meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192655005] +synonym: "Meningitis due to E. coli" EXACT [MTHICD9_2006:320.82] +is_obsolete: true + +[Term] +id: DOID:11581 +name: phlyctenulosis +synonym: "Phlyctenular keratoconjunctivitis" EXACT [ICD9CM_2006:370.31] +synonym: "Phlyctenular keratoconjunctivitis" EXACT [SNOMEDCT_2005_07_31:193773009] +synonym: "Strumous ophthalmia" EXACT [SNOMEDCT_2005_07_31:67895005] +xref: ICD10CM:H16.25 +xref: ICD9CM:370.31 +xref: SNOMEDCT_US_2015_03_01:193773009 +xref: SNOMEDCT_US_2015_03_01:67895005 +xref: UMLS_CUI:C0155080 +is_a: DOID:9368 ! keratoconjunctivitis + +[Term] +id: DOID:11582 +name: syphilitic aortitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic aortitis" EXACT [SNOMEDCT_2005_07_31:186872001] +synonym: "Syphilitic aortitis" EXACT [ICD9CM_2006:093.1] +synonym: "Syphilitic aortitis (disorder)" EXACT [SNOMEDCT_2005_07_31:20735004] +is_obsolete: true + +[Term] +id: DOID:11584 +name: acute schizophrenic episode in remission +is_obsolete: true + +[Term] +id: DOID:11589 +name: Riley-Day syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial autonomic nervous dysfunction" EXACT [CSP2005:0725-5371] +synonym: "familial dysautonomia" EXACT [SNOMEDCT_2005_07_31:204087006] +synonym: "HSAN III" EXACT [SNOMEDCT_2005_07_31:29159009] +xref: ICD10CM:G90.1 +xref: MSH:D004402 +xref: NCI:C84706 +xref: OMIM:223900 +xref: SNOMEDCT_US_2015_03_01:204087006 +xref: SNOMEDCT_US_2015_03_01:29159009 +xref: UMLS_CUI:C0013364 +is_a: DOID:0050548 ! hereditary sensory neuropathy + +[Term] +id: DOID:1159 +name: functional gastric disease +xref: ICD9CM:536.8 +xref: UMLS_CUI:C0013396 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:11593 +name: bladder lateral wall cancer +synonym: "Lateral Wall of bladder" EXACT [NCI2004_11_17:C12333] +synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [SNOMEDCT_2005_07_31:93863000] +synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [ICD9CM_2006:188.2] +synonym: "malignant neoplasm of lateral wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188241004] +xref: ICD10CM:C67.2 +xref: ICD9CM:188.2 +xref: NCI:C12333 +xref: SNOMEDCT_US_2015_03_01:188241004 +xref: SNOMEDCT_US_2015_03_01:93863000 +xref: UMLS_CUI:C0496828 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11594 +name: ring staphyloma +synonym: "Ring staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:5299007] +xref: ICD10CM:H15.85 +xref: ICD9CM:379.15 +xref: SNOMEDCT_US_2015_03_01:5299007 +xref: UMLS_CUI:C0155363 +is_a: DOID:11595 ! scleral staphyloma + +[Term] +id: DOID:11595 +name: scleral staphyloma +synonym: "Scleral ectasia" EXACT [ICD9CM_2006:379.11] +synonym: "Scleral staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:111534007] +xref: ICD10CM:H15.84 +xref: ICD9CM:379.11 +xref: SNOMEDCT_US_2015_03_01:111534007 +xref: UMLS_CUI:C0155359 +is_a: DOID:11343 ! scleral disease + +[Term] +id: DOID:11597 +name: cold injury syndrome of newborn +synonym: "Cold injury syndrome of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:26746005] +is_obsolete: true + +[Term] +id: DOID:11599 +name: Frey Syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Baillarger Syndrome" EXACT [] +synonym: "Gustatory hyperhidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238758008] +synonym: "gustatory sweating" EXACT [] +synonym: "Gustatory sweating (finding)" EXACT [SNOMEDCT_2005_07_31:56046002] +xref: MSH:D013547 +xref: OMIM:144100 +xref: SNOMEDCT_US_2015_03_01:238758008 +xref: SNOMEDCT_US_2015_03_01:56046002 +xref: UMLS_CUI:C0038994 +is_a: DOID:11465 ! autonomic nervous system disease + +[Term] +id: DOID:116 +name: pericardium cancer +alt_id: DOID:5780 +synonym: "malignant neoplasm of pericardium" EXACT [] +synonym: "malignant tumor of Pericardium" EXACT [NCI2004_11_17:C4567] +synonym: "Pericardial tumor" EXACT [NCI2004_11_17:C4651] +xref: ICD10CM:C38.0 +xref: NCI:C4567 +xref: NCI:C4651 +xref: SNOMEDCT_US_2015_03_01:126734005 +xref: SNOMEDCT_US_2015_03_01:187884007 +xref: SNOMEDCT_US_2015_03_01:93957005 +xref: SNOMEDCT_US_2015_03_01:94997003 +xref: UMLS_CUI:C0346609 +xref: UMLS_CUI:C0349574 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:11600 +name: secondary malignant neoplasm of lymph nodes of multiple site +synonym: "secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)" EXACT [SNOMEDCT_2005_07_31:190144001] +synonym: "secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188430004] +synonym: "secondary and unspecified malignant neoplasm of lymph nodes of multiple sites" EXACT [ICD9CM_2006:196.8] +synonym: "secondary malignant neoplasm of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:94396003] +is_obsolete: true + +[Term] +id: DOID:11603 +name: infant gynecomastia +synonym: "breast engorgement in newborn" EXACT [ICD9CM_2006:778.7] +synonym: "breast engorgement in newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:34831003] +synonym: "Neonatal gynaecomastia" EXACT [SNOMEDCT_2005_07_31:157159001] +xref: ICD10CM:P83.4 +xref: ICD9CM:778.7 +xref: MSH:D006177 +xref: SNOMEDCT_US_2015_03_01:157159001 +xref: SNOMEDCT_US_2015_03_01:34831003 +xref: UMLS_CUI:C1449721 +is_a: DOID:3463 ! breast disease + +[Term] +id: DOID:11604 +name: idiopathic hydrops fetalis +synonym: "Hydrops fetalis not due to isoimmunization" EXACT [ICD9CM_2006:778.0] +synonym: "Idiopathic hydrops fetalis (disorder)" EXACT [SNOMEDCT_2005_07_31:206538000] +synonym: "Idiopathic hydrops fetalis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:59928009] +synonym: "Non-immune hydrops fetalis" EXACT [SNOMEDCT_2005_07_31:206551005] +synonym: "Non-immune hydrops fetalis (disorder)" EXACT [SNOMEDCT_2005_07_31:276509008] +synonym: "Perinatal skin prob. NOS" EXACT [SNOMEDCT_2005_07_31:268886003] +synonym: "Perinatal skin prob. NOS" EXACT [SNOMEDCT_2005_07_31:157160006] +is_obsolete: true + +[Term] +id: DOID:11606 +name: ileal disease +is_obsolete: true + +[Term] +id: DOID:11607 +name: candidal meningitis +def: "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf] +synonym: "Candida meningitis" EXACT [] +synonym: "Candidal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:45021001] +is_obsolete: true + +[Term] +id: DOID:11608 +name: fungal meningitis +synonym: "Fungal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:24321005] +xref: MSH:D016921 +xref: SNOMEDCT_US_2015_03_01:24321005 +xref: UMLS_CUI:C0085438 +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:11612 +name: polycystic ovary syndrome +def: "A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight." [PMID:20591140, url:http\://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome, url:https\://en.wikipedia.org/wiki/Polycystic_ovary_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Multicystic ovaries" EXACT [SNOMEDCT_2005_07_31:190549002] +synonym: "Multicystic ovaries" EXACT [SNOMEDCT_2005_07_31:237792009] +synonym: "PCOS" EXACT [CSP2005:2587-6155] +synonym: "Polycystic Ovarian disease" EXACT [NCI2004_11_17:C27086] +synonym: "Polycystic ovaries" EXACT [ICD9CM_2006:256.4] +synonym: "Polycystic ovaries (disorder)" EXACT [SNOMEDCT_2005_07_31:69878008] +synonym: "polycystic ovary" EXACT [CSP2005:2587-6111] +synonym: "Polycystic ovary syndrome" EXACT [SNOMEDCT_2005_07_31:237055002] +synonym: "Stein-Leventhal synd." EXACT [SNOMEDCT_2005_07_31:271199009] +synonym: "Stein-Leventhal synd." EXACT [SNOMEDCT_2005_07_31:154714009] +synonym: "Stein-Leventhal syndrome" EXACT [MTHICD9_2006:256.4] +synonym: "Stein-Leventhal syndrome" EXACT [NCI2004_11_17:C26862] +xref: EFO:0000660 +xref: ICD10CM:E28.2 +xref: ICD9CM:256.4 +xref: MSH:D011085 +xref: NCI:C26862 +xref: NCI:C92847 +xref: OMIM:184700 +xref: SNOMEDCT_US_2015_03_01:154714009 +xref: SNOMEDCT_US_2015_03_01:190549002 +xref: SNOMEDCT_US_2015_03_01:237055002 +xref: SNOMEDCT_US_2015_03_01:237792009 +xref: SNOMEDCT_US_2015_03_01:271199009 +xref: SNOMEDCT_US_2015_03_01:69878008 +xref: UMLS_CUI:C0032460 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:11613 +name: hyperandrogenism +synonym: "hyperandrogenization syndrome" EXACT [SNOMEDCT_2005_07_31:237793004] +xref: MSH:D017588 +xref: SNOMEDCT_US_2015_03_01:237793004 +xref: UMLS_CUI:C0206081 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:11615 +name: penile cancer +alt_id: DOID:11614 +subset: TopNodes_DOcancerslim +synonym: "Ca penis" EXACT [SNOMEDCT_2005_07_31:154536009] +synonym: "Ca penis (disorder)" EXACT [SNOMEDCT_2005_07_31:269605006] +synonym: "malignant neoplasm of body of penis" EXACT [] +synonym: "malignant neoplasm of penis, part unspecified" EXACT [ICD9CM_2006:187.4] +synonym: "malignant neoplasm of penis, part unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:188231002] +synonym: "malignant Penile tumor" EXACT [NCI2004_11_17:C7547] +synonym: "malignant tumor of body of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:188230001] +synonym: "malignant tumor of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:363516004] +synonym: "Penile Ca" EXACT [SNOMEDCT_2005_07_31:93954003] +synonym: "penile neoplasm" EXACT [] +xref: ICD10CM:C60 +xref: ICD10CM:C60.2 +xref: ICD10CM:C60.9 +xref: ICD9CM:187.3 +xref: ICD9CM:187.4 +xref: MSH:D010412 +xref: NCI:C7547 +xref: SNOMEDCT_US_2015_03_01:154536009 +xref: SNOMEDCT_US_2015_03_01:188230001 +xref: SNOMEDCT_US_2015_03_01:188231002 +xref: SNOMEDCT_US_2015_03_01:269605006 +xref: SNOMEDCT_US_2015_03_01:363516004 +xref: SNOMEDCT_US_2015_03_01:93716006 +xref: SNOMEDCT_US_2015_03_01:93954003 +xref: UMLS_CUI:C0153600 +xref: UMLS_CUI:C0153601 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:11623 +name: dental pulp necrosis +synonym: "necrosis of the pulp" EXACT [ICD9CM_2006:522.1] +synonym: "necrosis of the pulp NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196334004] +synonym: "necrotic pulp" EXACT [SNOMEDCT_2005_07_31:42711005] +synonym: "pulp necrosis" EXACT [SNOMEDCT_2005_07_31:196332000] +xref: ICD10CM:K04.1 +xref: ICD9CM:522.1 +xref: MSH:D003790 +xref: SNOMEDCT_US_2015_03_01:196332000 +xref: SNOMEDCT_US_2015_03_01:196334004 +xref: SNOMEDCT_US_2015_03_01:42711005 +xref: UMLS_CUI:C0011407 +is_a: DOID:5330 ! dental pulp disease + +[Term] +id: DOID:11624 +name: penile neoplasm +synonym: "neoplasm of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:126896003] +synonym: "Penile tumor" EXACT [NCI2004_11_17:C3317] +xref: MSH:D010412 +xref: NCI:C3317 +xref: SNOMEDCT_US_2015_03_01:126896003 +xref: UMLS_CUI:C0030849 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:11629 +name: pelvic muscle wasting +xref: ICD10CM:N81.84 +xref: ICD9CM:618.83 +xref: UMLS_CUI:C1456255 +is_a: DOID:1284 ! prolapse of female genital organ + +[Term] +id: DOID:11633 +name: thyroid hormone resistance syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Generalized thyroid hormone resistance (disorder)" EXACT [SNOMEDCT_2005_07_31:237560005] +synonym: "Refetoff syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:111567006] +synonym: "thyroid hormone resistance" EXACT [CSP2005:2928-9974] +synonym: "thyroid hormone resistance" EXACT [CSP2005:4008-0047] +synonym: "Thyroid hormone resistance syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:237559000] +synonym: "Thyroid hormone responsiveness defect (disorder)" EXACT [SNOMEDCT_2005_07_31:50375007] +xref: MSH:D018382 +xref: NCI:C85191 +xref: OMIM:188570 +xref: OMIM:274300 +xref: SNOMEDCT_US_2015_03_01:111567006 +xref: SNOMEDCT_US_2015_03_01:237559000 +xref: SNOMEDCT_US_2015_03_01:237560005 +xref: SNOMEDCT_US_2015_03_01:50375007 +xref: UMLS_CUI:C2940786 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:11634 +name: myxedema +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MYXEDEMA" EXACT [MTH:NOCODE] +synonym: "Myxedema (disorder)" EXACT [SNOMEDCT_2005_07_31:43153006] +synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:267465007] +synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:154660000] +synonym: "Myxoedema" EXACT [SNOMEDCT_2005_07_31:190274003] +synonym: "myxoedema" EXACT [CSP2005:2928-6930] +xref: ICD10CM:E03.9 +xref: MSH:D009230 +xref: NCI:C34834 +xref: OMIM:255900 +xref: SNOMEDCT_US_2015_03_01:154660000 +xref: SNOMEDCT_US_2015_03_01:190274003 +xref: SNOMEDCT_US_2015_03_01:267465007 +xref: SNOMEDCT_US_2015_03_01:43153006 +xref: UMLS_CUI:C0027145 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:11637 +name: accommodative spasm +synonym: "Spasm of accommodation" EXACT [ICD9CM_2006:367.53] +synonym: "Spasm of accommodation (disorder)" EXACT [SNOMEDCT_2005_07_31:30069002] +xref: ICD10CM:H52.53 +xref: ICD9CM:367.53 +xref: SNOMEDCT_US_2015_03_01:30069002 +xref: UMLS_CUI:C0152196 +is_a: DOID:10034 ! eye accommodation disease + +[Term] +id: DOID:11638 +name: presbyopia +synonym: "Presbyopia (disorder)" EXACT [SNOMEDCT_2005_07_31:41256004] +xref: ICD10CM:H52.4 +xref: ICD9CM:367.4 +xref: MSH:D011305 +xref: SNOMEDCT_US_2015_03_01:155135005 +xref: SNOMEDCT_US_2015_03_01:41256004 +xref: UMLS_CUI:C0033075 +is_a: DOID:10034 ! eye accommodation disease +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:11649 +name: transitory tachypnea of newborn +synonym: "Idiopathic tachypnea of newborn" EXACT [MTHICD9_2006:770.6] +synonym: "Transitory tachypnea of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:7550008] +is_obsolete: true + +[Term] +id: DOID:11650 +name: bronchopulmonary dysplasia +alt_id: DOID:11651 +synonym: "Bronchopulmonary dysplasia of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:67569000] +synonym: "neonatal chronic respiratory disease" EXACT [] +synonym: "Perinatal bronchopulmonary dysplasia" EXACT [MTHICD9_2006:770.7] +is_obsolete: true + +[Term] +id: DOID:11653 +name: conjunctival deposit +synonym: "Conjunctival deposit (disorder)" EXACT [SNOMEDCT_2005_07_31:62660000] +synonym: "Conjunctival deposits" EXACT [ICD9CM_2006:372.56] +xref: ICD10CM:H11.11 +xref: ICD9CM:372.56 +xref: SNOMEDCT_US_2015_03_01:62660000 +xref: UMLS_CUI:C0162280 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:11654 +name: nevus of ota +synonym: "Naevus fuscocerulophthalmomaxillaris" EXACT [SNOMEDCT_2005_07_31:414929001] +synonym: "Naevus fusoceruleus ophthalmomaxillaris" EXACT [SNOMEDCT_2005_07_31:254817005] +synonym: "nevus of Ota (disorder)" EXACT [SNOMEDCT_2005_07_31:254212008] +synonym: "Oculocutaneous melanocytic nevus" EXACT [NCI2004_11_17:C7583] +synonym: "Oculodermal malanocytosis" EXACT [SNOMEDCT_2005_07_31:27486008] +synonym: "primary acquired melanosis" EXACT [SNOMEDCT_2005_07_31:415172002] +synonym: "primary acquired melanosis of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:415173007] +is_obsolete: true + +[Term] +id: DOID:11656 +name: cicatricial pemphigoid +alt_id: DOID:11655 +def: "A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." [url:http\://en.wikipedia.org/wiki/Cicatricial_pemphigoid, url:http\://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html] +synonym: "benign mucous membrane pemphigoid" EXACT [] +synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT [ICD9CM_2006:694.61] +synonym: "Cicatricial pemphigoid with ocular involvement" EXACT [SNOMEDCT_2005_07_31:76092003] +synonym: "Ocular pemphigoid" EXACT [SNOMEDCT_2005_07_31:193905009, SNOMEDCT_2005_07_31:194590009, SNOMEDCT_2005_07_31:200914001, SNOMEDCT_2005_07_31:34250006] +synonym: "ocular pemphigus" EXACT [] +xref: ICD10CM:L12.1 +xref: ICD9CM:694.6 +xref: ICD9CM:694.61 +xref: MSH:D010390 +xref: NCI:C34907 +xref: SNOMEDCT_US_2015_03_01:193905009 +xref: SNOMEDCT_US_2015_03_01:194590009 +xref: SNOMEDCT_US_2015_03_01:200913007 +xref: SNOMEDCT_US_2015_03_01:200914001 +xref: SNOMEDCT_US_2015_03_01:200915000 +xref: SNOMEDCT_US_2015_03_01:34250006 +xref: SNOMEDCT_US_2015_03_01:76092003 +xref: UMLS_CUI:C0030804 +xref: UMLS_CUI:C0157721 +is_a: DOID:8502 ! bullous skin disease + +[Term] +id: DOID:1166 +name: palindromic rheumatism +alt_id: DOID:1165 +alt_id: DOID:1177 +alt_id: DOID:1178 +alt_id: DOID:1179 +alt_id: DOID:12951 +alt_id: DOID:13354 +alt_id: DOID:13355 +alt_id: DOID:13771 +def: "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms." [url:http\://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, url:http\://en.wikipedia.org/wiki/Palindromic_rheumatism, url:http\://www.palindromicrheumatism.org/] +synonym: "Hench's syndrome" EXACT [] +synonym: "Hench-Rosenberg syndrome" EXACT [] +xref: ICD10CM:M12.3 +xref: ICD10CM:M12.30 +xref: ICD9CM:719.3 +xref: ICD9CM:719.30 +xref: ICD9CM:719.31 +xref: MSH:C538103 +xref: SNOMEDCT_US_2015_03_01:202455001 +xref: SNOMEDCT_US_2015_03_01:202456000 +xref: SNOMEDCT_US_2015_03_01:202457009 +xref: SNOMEDCT_US_2015_03_01:202466008 +xref: SNOMEDCT_US_2015_03_01:50442003 +xref: UMLS_CUI:C0085574 +xref: UMLS_CUI:C0158178 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:11661 +name: blue color blindness +def: "A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function." [url:http\://www.ncbi.nlm.nih.gov/pubmed/2788922, url:http\://www.omim.org/entry/190900, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Tritan defect" EXACT [ICD9CM_2006:368.53] +synonym: "Tritanopia" EXACT [MTHICD9_2006:368.53] +xref: ICD10CM:H53.55 +xref: ICD9CM:368.53 +xref: MSH:D003117 +xref: OMIM:190900 +xref: SNOMEDCT_US_2015_03_01:51886007 +xref: SNOMEDCT_US_2015_03_01:85049009 +xref: UMLS_CUI:C0155017 +is_a: DOID:13399 ! color blindness + +[Term] +id: DOID:11662 +name: color vision defect +is_obsolete: true + +[Term] +id: DOID:11664 +name: nephrosclerosis +synonym: "renal sclerosis" EXACT [CSP2005:4003-0020] +xref: ICD10CM:I12 +xref: ICD10CM:N26.9 +xref: ICD9CM:587 +xref: MSH:D009400 +xref: SNOMEDCT_US_2015_03_01:194773000 +xref: SNOMEDCT_US_2015_03_01:197658002 +xref: SNOMEDCT_US_2015_03_01:197662008 +xref: SNOMEDCT_US_2015_03_01:32916005 +xref: UMLS_CUI:C0027719 +is_a: DOID:1073 ! renal hypertension + +[Term] +id: DOID:11665 +name: Patau syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "D1 Trisomy " EXACT [NCI2004_11_17:C36529] +synonym: "Patau's syndrome" RELATED [ICD9CM_2006:758.1] +synonym: "trisomy 13" EXACT [] +xref: ICD10CM:Q91.7 +xref: ICD9CM:758.1 +xref: MSH:C536305 +xref: NCI:C101223 +xref: SNOMEDCT_US_2015_03_01:156995003 +xref: SNOMEDCT_US_2015_03_01:157021007 +xref: SNOMEDCT_US_2015_03_01:205622008 +xref: SNOMEDCT_US_2015_03_01:21111006 +xref: SNOMEDCT_US_2015_03_01:254267009 +xref: SNOMEDCT_US_2015_03_01:268344000 +xref: SNOMEDCT_US_2015_03_01:268357008 +xref: UMLS_CUI:C0152095 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:11668 +name: hypopigmentation of eyelid +synonym: "Hypopigmentation of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:68210006] +synonym: "Hypopigmentation of eyelid [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193958004] +xref: ICD10CM:H02.73 +xref: ICD9CM:374.53 +xref: SNOMEDCT_US_2015_03_01:193958004 +xref: SNOMEDCT_US_2015_03_01:68210006 +xref: UMLS_CUI:C0155212 +is_a: DOID:10120 ! eyelid degenerative disease +is_a: DOID:10123 ! pigmentation disease + +[Term] +id: DOID:11669 +name: hypertrichosis of eyelid +synonym: "hypertrichosis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:79830009] +xref: ICD10CM:H02.86 +xref: ICD9CM:374.54 +xref: SNOMEDCT_US_2015_03_01:79830009 +xref: UMLS_CUI:C0155213 +is_a: DOID:10120 ! eyelid degenerative disease +is_a: DOID:420 ! hypertrichosis + +[Term] +id: DOID:11671 +name: hypotrichosis of eyelid +synonym: "Hypotrichosis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:70738004] +synonym: "Hypotrichosis of eyelid [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193959007] +xref: ICD10CM:H02.72 +xref: ICD9CM:374.55 +xref: SNOMEDCT_US_2015_03_01:193959007 +xref: SNOMEDCT_US_2015_03_01:70738004 +xref: UMLS_CUI:C0155214 +is_a: DOID:10120 ! eyelid degenerative disease +is_a: DOID:4535 ! hypotrichosis + +[Term] +id: DOID:11678 +name: onchocerciasis +def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] +synonym: "Infection by Onchocerca volvulus (disorder)" EXACT [SNOMEDCT_2005_07_31:38539003] +synonym: "Onchocerca volvulus infection" EXACT [MTHICD9_2006:125.3] +synonym: "volvulosis" EXACT [CSP2005:2214-3590] +xref: ICD10CM:B73 +xref: ICD9CM:125.3 +xref: MSH:D009855 +xref: NCI:C34861 +xref: SNOMEDCT_US_2015_03_01:38539003 +xref: UMLS_CUI:C0029001 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:1168 +name: familial hyperlipidemia +alt_id: DOID:3147 +synonym: "familial hyperlipoproteinemia" EXACT [] +synonym: "hyperlipemia" EXACT [CSP2005:1744-2444] +synonym: "hyperlipidaemia" RELATED [SNOMEDCT_2005_07_31:154739000] +xref: ICD10CM:E78.5 +xref: MSH:D006949 +xref: MSH:D006951 +xref: NCI:C34707 +xref: NCI:C34709 +xref: SNOMEDCT_US_2015_03_01:154739000 +xref: SNOMEDCT_US_2015_03_01:154743001 +xref: SNOMEDCT_US_2015_03_01:190782002 +xref: SNOMEDCT_US_2015_03_01:267499005 +xref: SNOMEDCT_US_2015_03_01:3744001 +xref: SNOMEDCT_US_2015_03_01:55822004 +xref: UMLS_CUI:C0020473 +xref: UMLS_CUI:C0020476 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:11680 +name: ocular onchocerciasis +def: "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." [url:http\://en.wikipedia.org/wiki/Onchocerciasis] +synonym: "Ocular Onchocerciasis" EXACT [NCI2004_11_17:C34862] +synonym: "Ocular onchocerciasis (disorder)" EXACT [SNOMEDCT_2005_07_31:240842000] +synonym: "river blindness" EXACT [CSP2005:2214-3590] +is_obsolete: true + +[Term] +id: DOID:11683 +name: glaucoma associated with systemic syndromes +synonym: "Glaucoma associated with systemic syndromes (disorder)" EXACT [SNOMEDCT_2005_07_31:53667005] +is_obsolete: true + +[Term] +id: DOID:11684 +name: melanoacanthoma +synonym: "Melanoacanthoma (disorder)" EXACT [SNOMEDCT_2005_07_31:394727000] +xref: NCI:C27548 +xref: SNOMEDCT_US_2015_03_01:201096007 +xref: SNOMEDCT_US_2015_03_01:394727000 +xref: UMLS_CUI:C1321683 +is_a: DOID:6498 ! seborrheic keratosis + +[Term] +id: DOID:11685 +name: inflamed seborrheic keratosis +xref: ICD10CM:L82.0 +xref: ICD9CM:702.11 +xref: SNOMEDCT_US_2015_03_01:442348004 +xref: UMLS_CUI:C0376117 +is_a: DOID:6498 ! seborrheic keratosis + +[Term] +id: DOID:11693 +name: acute apical periodontitis +synonym: "acute apical periodontitis of pulpal origin" EXACT [ICD9CM_2006:522.4] +synonym: "acute apical periodontitis of pulpal origin (disorder)" EXACT [SNOMEDCT_2005_07_31:88071000] +xref: ICD10CM:K04.4 +xref: ICD9CM:522.4 +xref: SNOMEDCT_US_2015_03_01:109605000 +xref: SNOMEDCT_US_2015_03_01:196338001 +xref: SNOMEDCT_US_2015_03_01:88071000 +xref: UMLS_CUI:C0155934 +is_a: DOID:823 ! periapical periodontitis + +[Term] +id: DOID:11695 +name: portal vein thrombosis +def: "A vein disease that is characterized by a blood clot that forms within the hepatic portal vein." [url:http\://en.wikipedia.org/wiki/Portal_vein_thrombosis] +xref: ICD10CM:I81 +xref: ICD9CM:452 +xref: NCI:C78565 +xref: SNOMEDCT_US_2015_03_01:155455003 +xref: SNOMEDCT_US_2015_03_01:17920008 +xref: UMLS_CUI:C0155773 +is_a: DOID:272 ! hepatic vascular disease +is_a: DOID:866 ! vein disease + +[Term] +id: DOID:11696 +name: chronic hypomanic disorder +synonym: "chronic hypomanic personality disorder" EXACT [ICD9CM_2006:301.11] +is_obsolete: true + +[Term] +id: DOID:11699 +name: intrathoracic lymph node tuberculosis +def: "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe." [url:http\://ep.bmjjournals.com/cgi/reprint/91/1/ep1] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:78436002] +synonym: "Tuberculosis of intrathoracic lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186187009] +synonym: "Tuberculosis of intrathoracic lymph nodes, unspecified examination" EXACT [ICD9CM_2006:012.10] +is_obsolete: true + +[Term] +id: DOID:117 +name: heart cancer +alt_id: DOID:9918 +def: "A cardiovascular cancer located_in the heart." [url:http\://en.wikipedia.org/wiki/Heart_cancer] +synonym: "Cardiac tumor" EXACT [NCI2004_11_17:C3081] +synonym: "malignant Cardiac tumor" EXACT [NCI2004_11_17:C3548] +synonym: "malignant neoplasm of heart" EXACT [] +synonym: "Tumour of heart" EXACT [SNOMEDCT_2005_07_31:126730001] +xref: ICD10CM:C38.0 +xref: ICD9CM:164.1 +xref: MSH:D006338 +xref: NCI:C3081 +xref: NCI:C3548 +xref: SNOMEDCT_US_2015_03_01:126730001 +xref: SNOMEDCT_US_2015_03_01:154555009 +xref: SNOMEDCT_US_2015_03_01:187886009 +xref: SNOMEDCT_US_2015_03_01:269615000 +xref: SNOMEDCT_US_2015_03_01:363435002 +xref: SNOMEDCT_US_2015_03_01:387842002 +xref: SNOMEDCT_US_2015_03_01:93825008 +xref: UMLS_CUI:C0018809 +xref: UMLS_CUI:C0153500 +is_a: DOID:176 ! cardiovascular cancer + +[Term] +id: DOID:11701 +name: selective IgA deficiency disease +def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency] +synonym: "Immunoglobulin A deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:29260007] +synonym: "Selective IgA Immunodeficiency" EXACT [NCI2004_11_17:C26964] +synonym: "Selective IgA immunodeficiency" EXACT [ICD9CM_2006:279.01] +synonym: "Selective immunoglobulin A deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:190979003] +xref: MSH:D017098 +xref: SNOMEDCT_US_2015_03_01:29260007 +xref: UMLS_CUI:C0162538 +is_a: DOID:11702 ! dysgammaglobulinemia + +[Term] +id: DOID:11702 +name: dysgammaglobulinemia +def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins." [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] +synonym: "Dysgammaglobulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:123782009] +synonym: "Dysgammaglobulinemia (finding)" EXACT [SNOMEDCT_2005_07_31:127389001] +xref: MSH:D004406 +xref: SNOMEDCT_US_2015_03_01:123782009 +xref: SNOMEDCT_US_2015_03_01:127389001 +xref: UMLS_CUI:C0013374 +is_a: DOID:6025 ! selective immunoglobulin deficiency disease + +[Term] +id: DOID:11705 +name: impaired renal function disease +xref: ICD9CM:588.8 +xref: ICD9CM:588.89 +xref: UMLS_CUI:C0029791 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:1171 +name: hyperlipoproteinemia type V +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hyperlipoproteinemia type V" EXACT [CSP2005:1849-4520] +synonym: "familial type 5 hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:34349009] +synonym: "Fredrickson type V lipaemia" EXACT [SNOMEDCT_2005_07_31:190781009] +xref: MSH:D006954 +xref: NCI:C35645 +xref: OMIM:144650 +xref: SNOMEDCT_US_2015_03_01:190781009 +xref: SNOMEDCT_US_2015_03_01:34349009 +xref: UMLS_CUI:C0020481 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:11711 +name: Pregnancy in Diabetics +synonym: "Diabetes in Pregnancy" EXACT [NCI2004_11_17:C34942] +synonym: "Diabetes mellitus, antepartum" EXACT [ICD9CM_2006:648.03] +synonym: "pregnancy diabetes" EXACT [CSP2005:0862-6650] +is_obsolete: true + +[Term] +id: DOID:11712 +name: lipoatrophic diabetes +def: "A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes." [url:http\://en.wikipedia.org/wiki/Lipoatrophic_diabetes] +xref: MSH:D003923 +xref: NCI:C34537 +xref: SNOMEDCT_US_2015_03_01:127012008 +xref: SNOMEDCT_US_2015_03_01:408543001 +xref: SNOMEDCT_US_2015_03_01:71325002 +xref: UMLS_CUI:C0011859 +is_a: DOID:9352 ! type 2 diabetes mellitus + +[Term] +id: DOID:11713 +name: diabetic angiopathy +synonym: "Diabetic vascular disorder" EXACT [NCI2004_11_17:C35610] +xref: MSH:D003925 +xref: NCI:C35610 +xref: UMLS_CUI:C0011875 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:11714 +name: gestational diabetes +synonym: "GDM" EXACT [CSP2005:0862-6650] +synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:237629002] +synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:199232003] +synonym: "Gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:393568003] +synonym: "Maternal gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:359964007] +synonym: "Maternal gestational diabetes mellitus" EXACT [SNOMEDCT_2005_07_31:11687002] +xref: EFO:0004593 +xref: ICD10CM:O24.4 +xref: MSH:D016640 +xref: NCI:C34942 +xref: SNOMEDCT_US_2015_03_01:11687002 +xref: SNOMEDCT_US_2015_03_01:199232003 +xref: SNOMEDCT_US_2015_03_01:237629002 +xref: SNOMEDCT_US_2015_03_01:359964007 +xref: SNOMEDCT_US_2015_03_01:393568003 +xref: UMLS_CUI:C0085207 +is_a: DOID:9351 ! diabetes mellitus + +[Term] +id: DOID:11716 +name: prediabetes syndrome +synonym: "Prediabetes" EXACT [SNOMEDCT_2005_07_31:15777000] +synonym: "Prediabetes" EXACT [SNOMEDCT_2005_07_31:9414007] +synonym: "prediabetic state" EXACT [CSP2005:0862-7400] +xref: ICD10CM:R73.09 +xref: MSH:D011236 +xref: SNOMEDCT_US_2015_03_01:15777000 +xref: SNOMEDCT_US_2015_03_01:9414007 +xref: UMLS_CUI:C0362046 +is_a: DOID:9351 ! diabetes mellitus + +[Term] +id: DOID:11717 +name: neonatal diabetes mellitus +synonym: "diabetes mellitus syndrome in newborn infant" EXACT [] +xref: ICD10CM:P70.2 +xref: ICD9CM:775.1 +xref: NCI:C99248 +xref: SNOMEDCT_US_2015_03_01:49817004 +xref: UMLS_CUI:C0158981 +is_a: DOID:9351 ! diabetes mellitus + +[Term] +id: DOID:11718 +name: antidepressant type abuse +def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Antidepressant] +xref: ICD9CM:305.8 +xref: UMLS_CUI:C0154540 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:11719 +name: oculopharyngeal muscular dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Muscular dystrophy, oculopharyngeal" EXACT [MTHICD9_2006:359.1] +synonym: "Oculopharyngeal muscular dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:77097004] +xref: ICD10CM:G71.0 +xref: MSH:D039141 +xref: NCI:C84942 +xref: OMIM:164300 +xref: SNOMEDCT_US_2015_03_01:77097004 +xref: UMLS_CUI:C0270952 +is_a: DOID:929 ! myopathy of extraocular muscle +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:1172 +name: hyperlipoproteinemia type IV +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Endogenous hyperlipidaemia" EXACT [SNOMEDCT_2005_07_31:129589009] +synonym: "Fredrickson type IV hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:238085009] +synonym: "Fredrickson type IV lipidaemia" EXACT [SNOMEDCT_2005_07_31:190779007] +synonym: "Fredrickson type IV Lipidemia" EXACT [NCI2004_11_17:C34711] +synonym: "VLDL hyperlipoproteinemia" EXACT [MTHICD9_2006:272.1] +xref: ICD10CM:E78.1 +xref: ICD9CM:272.1 +xref: MSH:D006953 +xref: NCI:C34711 +xref: OMIM:144600 +xref: SNOMEDCT_US_2015_03_01:129589009 +xref: SNOMEDCT_US_2015_03_01:154741004 +xref: SNOMEDCT_US_2015_03_01:190779007 +xref: SNOMEDCT_US_2015_03_01:238085009 +xref: SNOMEDCT_US_2015_03_01:267433009 +xref: SNOMEDCT_US_2015_03_01:34528009 +xref: UMLS_CUI:C0020480 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:11720 +name: distal muscular dystrophy +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "distal myopathy" EXACT [] +synonym: "Miyoshi muscular dystrophy" EXACT [] +xref: ICD10CM:G71.0 +xref: MSH:D049310 +xref: NCI:C84675 +xref: OMIM:160300 +xref: OMIM:160500 +xref: OMIM:254130 +xref: OMIM:606768 +xref: OMIM:607569 +xref: OMIM:610099 +xref: OMIM:613318 +xref: OMIM:613319 +xref: OMIM:614065 +xref: OMIM:614321 +xref: ORDO:399086 +xref: ORDO:399096 +xref: ORDO:5448 +xref: ORDO:59135 +xref: ORDO:63273 +xref: SNOMEDCT_US_2015_03_01:58795000 +xref: UMLS_CUI:C0751336 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:11721 +name: glycogen storage disease VII +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "glycogen storage disease type VII" EXACT [] +synonym: "Glycogen storage disease, type VII (disorder)" EXACT [SNOMEDCT_2005_07_31:89597008] +synonym: "Muscle phosphofructokinase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234406005] +synonym: "phosphofructokinase myopathy" EXACT [CSP2005:1849-4121] +xref: ICD10CM:E74.09 +xref: MSH:D006014 +xref: OMIM:232800 +xref: SNOMEDCT_US_2015_03_01:234406005 +xref: SNOMEDCT_US_2015_03_01:89597008 +xref: UMLS_CUI:C0017926 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:11722 +name: myotonic dystrophy type 1 +def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region." [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/160900, url:http\://www.genome.gov/25521207, url:http\://www.ncbi.nlm.nih.gov/books/NBK1165/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "congenital myotonic dystrophy" EXACT [] +synonym: "Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:267713009] +synonym: "myotonic dystrophy of Steinert" EXACT [] +synonym: "Steinert disease" EXACT [] +xref: ICD10CM:G71.11 +xref: MSH:D009223 +xref: OMIM:160900 +xref: SNOMEDCT_US_2015_03_01:155096007 +xref: SNOMEDCT_US_2015_03_01:267713009 +xref: SNOMEDCT_US_2015_03_01:77956009 +xref: UMLS_CUI:C0027126 +is_a: DOID:450 ! myotonic disease + +[Term] +id: DOID:11723 +name: Duchenne muscular dystrophy +def: "A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy." [url:http\://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, url:http\://omim.org/entry/300377, url:http\://www.genome.gov/19518854] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Muscular dystrophy, Duchenne" EXACT [MTHICD9_2006:359.1] +xref: MSH:D020388 +xref: NCI:C75482 +xref: OMIM:310200 +xref: SNOMEDCT_US_2015_03_01:129619006 +xref: SNOMEDCT_US_2015_03_01:155095006 +xref: SNOMEDCT_US_2015_03_01:267712004 +xref: SNOMEDCT_US_2015_03_01:387732009 +xref: SNOMEDCT_US_2015_03_01:76670001 +xref: UMLS_CUI:C0013264 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:11724 +name: limb-girdle muscular dystrophy +def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles." [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Erb's muscular dystrophy" EXACT [] +synonym: "Leyden-Mbius muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:93153005] +synonym: "limb girdle muscular dystrophy" EXACT [CSP2005:1849-6662] +xref: ICD10CM:G71.0 +xref: MSH:D049288 +xref: NCI:C84828 +xref: OMIM:159000 +xref: OMIM:159001 +xref: OMIM:253600 +xref: OMIM:253601 +xref: OMIM:253700 +xref: OMIM:254110 +xref: OMIM:601287 +xref: OMIM:601954 +xref: OMIM:603511 +xref: OMIM:604286 +xref: OMIM:607155 +xref: OMIM:607801 +xref: OMIM:608099 +xref: OMIM:608423 +xref: OMIM:608807 +xref: OMIM:609115 +xref: OMIM:609308 +xref: OMIM:611307 +xref: OMIM:611588 +xref: OMIM:613157 +xref: OMIM:613158 +xref: OMIM:613530 +xref: OMIM:613723 +xref: OMIM:613818 +xref: OMIM:615325 +xref: OMIM:615352 +xref: OMIM:615356 +xref: ORDO:263 +xref: SNOMEDCT_US_2015_03_01:56096001 +xref: SNOMEDCT_US_2015_03_01:93153005 +xref: UMLS_CUI:C0686353 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:11725 +name: Cornelia de Lange syndrome +def: "A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features." [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Brachmann de Lange syndrome" EXACT [CSP2005:2403-8925] +synonym: "De Lange syndrome" EXACT [] +xref: ICD10CM:Q87.1 +xref: MSH:D003635 +xref: NCI:C75016 +xref: OMIM:122470 +xref: OMIM:300590 +xref: OMIM:300882 +xref: OMIM:610759 +xref: OMIM:614701 +xref: ORDO:199 +xref: SNOMEDCT_US_2015_03_01:40354009 +xref: UMLS_CUI:C0270972 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:11726 +name: Emery-Dreifuss muscular dystrophy +def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle." [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "EDMD" EXACT [] +xref: MSH:D020389 +xref: NCI:C84685 +xref: OMIM:181350 +xref: OMIM:300696 +xref: OMIM:310300 +xref: OMIM:612998 +xref: OMIM:612999 +xref: OMIM:614302 +xref: ORDO:261 +xref: ORDO:98853 +xref: ORDO:98855 +xref: ORDO:98863 +xref: SNOMEDCT_US_2015_03_01:111508004 +xref: SNOMEDCT_US_2015_03_01:129620000 +xref: SNOMEDCT_US_2015_03_01:193233004 +xref: UMLS_CUI:C0410189 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:11727 +name: facioscapulohumeral muscular dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Landouzy Dejerine muscular dystrophy" EXACT [CSP2005:1849-6662] +synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:56096001] +synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [SNOMEDCT_2005_07_31:399091004] +synonym: "Muscular dystrophy, Landouzy-Dejerine" EXACT [MTHICD9_2006:359.1] +xref: ICD10CM:G71.0 +xref: MSH:D020391 +xref: NCI:C84704 +xref: OMIM:158900 +xref: OMIM:158901 +xref: SNOMEDCT_US_2015_03_01:399091004 +xref: SNOMEDCT_US_2015_03_01:56096001 +xref: UMLS_CUI:C0238288 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:11729 +name: Lyme disease +alt_id: DOID:12233 +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system." [url:http\://www.cdc.gov/lyme/transmission/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Bannwarth syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:48982009] +synonym: "Bannworth's syndrome" EXACT [SNOMEDCT_2005_07_31:23502006] +synonym: "Lyme borreliosis" EXACT [CSP2005:0368-3340] +synonym: "lyme neuroborreliosis" EXACT [] +synonym: "neuroborreliosis" EXACT [] +synonym: "Neurological Lyme disease" EXACT [SNOMEDCT_2005_07_31:240672009] +xref: ICD10CM:A69.2 +xref: ICD10CM:A69.20 +xref: ICD9CM:088.81 +xref: MSH:D008193 +xref: MSH:D020852 +xref: NCI:C45161 +xref: SNOMEDCT_US_2015_03_01:154376000 +xref: SNOMEDCT_US_2015_03_01:23502006 +xref: SNOMEDCT_US_2015_03_01:240672009 +xref: SNOMEDCT_US_2015_03_01:48982009 +xref: UMLS_CUI:C0024198 +xref: UMLS_CUI:C0752235 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:1173 +name: polycystic liver disease +synonym: "(Congenital cystic liver disease) or (congenital hepatic cyst)" EXACT [SNOMEDCT_2005_07_31:204784005] +synonym: "Congenital cystic disease of liver" EXACT [ICD9CM_2006:751.62] +synonym: "Congenital cystic disease of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:72925005] +synonym: "Congenital cystic liver disease (disorder)" EXACT [SNOMEDCT_2005_07_31:268214000] +synonym: "Congenital cystic liver disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204786007] +synonym: "Fibrocystic disease of liver" EXACT [MTHICD9_2006:751.62] +synonym: "Fibrocystic liver disease" EXACT [SNOMEDCT_2005_07_31:204785006] +is_obsolete: true + +[Term] +id: DOID:11730 +name: Borrelia infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "borreliosis" EXACT [CSP2005:0368-3338] +synonym: "Borreliosis (disorder)" EXACT [SNOMEDCT_2005_07_31:240668005] +synonym: "Borreliosis, NOS" EXACT [SNOMEDCT_2005_07_31:46107006] +is_obsolete: true + +[Term] +id: DOID:11732 +name: syphilitic myocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:4082005] +is_obsolete: true + +[Term] +id: DOID:11733 +name: syphilitic aortic aneurysm +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Aneurysm of aorta, specified as syphilitic" EXACT [ICD9CM_2006:093.0] +synonym: "Syphilitic aneurysm of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:12232008] +is_obsolete: true + +[Term] +id: DOID:11734 +name: syphilitic pericarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:3589003] +is_obsolete: true + +[Term] +id: DOID:11735 +name: single manic episode in full remission +synonym: "Manic disorder, single episode, in full remission" EXACT [ICD9CM_2006:296.06] +synonym: "Single manic episode in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191588009] +is_obsolete: true + +[Term] +id: DOID:11736 +name: odontoclasia +synonym: "Odontoclasia (disorder)" EXACT [SNOMEDCT_2005_07_31:196305005] +xref: ICD9CM:521.05 +xref: SNOMEDCT_US_2015_03_01:196305005 +xref: UMLS_CUI:C0341004 +is_a: DOID:216 ! dental caries + +[Term] +id: DOID:11741 +name: Chlamydophila pneumoniae pneumonia +def: "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress." [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm, url:http\://www.merck.com/mmpe/sec19/ch279/ch279l.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Chlamydial pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:233609002] +synonym: "Pneumonia due to Chlamydia" EXACT [ICD9CM_2006:483.1] +is_obsolete: true + +[Term] +id: DOID:11746 +name: parametrium malignant neoplasm +xref: ICD10CM:C57.3 +xref: ICD9CM:183.4 +xref: SNOMEDCT_US_2015_03_01:188203006 +xref: SNOMEDCT_US_2015_03_01:448674007 +xref: SNOMEDCT_US_2015_03_01:93942003 +xref: UMLS_CUI:C0153581 +is_a: DOID:11747 ! uterine adnexa cancer + +[Term] +id: DOID:11747 +name: uterine adnexa cancer +alt_id: DOID:9596 +xref: ICD10CM:C57.4 +xref: ICD9CM:183 +xref: ICD9CM:183.9 +xref: SNOMEDCT_US_2015_03_01:154527005 +xref: SNOMEDCT_US_2015_03_01:188201008 +xref: SNOMEDCT_US_2015_03_01:188206003 +xref: SNOMEDCT_US_2015_03_01:190123001 +xref: SNOMEDCT_US_2015_03_01:269601002 +xref: SNOMEDCT_US_2015_03_01:428322007 +xref: SNOMEDCT_US_2015_03_01:94126000 +xref: UMLS_CUI:C0153577 +xref: UMLS_CUI:C0153584 +is_a: DOID:363 ! uterine cancer + +[Term] +id: DOID:11748 +name: round ligament malignant neoplasm +synonym: "malignant neoplasm of round ligament (disorder)" EXACT [SNOMEDCT_2005_07_31:188204000] +synonym: "malignant neoplasm of round ligament of uterus" EXACT [SNOMEDCT_2005_07_31:93994001] +synonym: "malignant neoplasm of round ligament of uterus" EXACT [ICD9CM_2006:183.5] +xref: ICD10CM:C57.2 +xref: ICD9CM:183.5 +xref: SNOMEDCT_US_2015_03_01:188204000 +xref: SNOMEDCT_US_2015_03_01:93994001 +xref: UMLS_CUI:C0346867 +is_a: DOID:11747 ! uterine adnexa cancer +is_a: DOID:1725 ! peritoneum cancer + +[Term] +id: DOID:11750 +name: Bordetella parapertussis whooping cough +def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ." [url:http\://en.wikipedia.org/wiki/Pertussis] +subset: gram-negative_bacterial_infectious_disease +xref: ICD10CM:A37.1 +xref: ICD9CM:033.1 +xref: SNOMEDCT_US_2015_03_01:77116006 +xref: UMLS_CUI:C0275742 +is_a: DOID:1116 ! pertussis + +[Term] +id: DOID:11752 +name: acute endophthalmitis +synonym: "acute endophthalmitis (disorder)" EXACT [SNOMEDCT_2005_07_31:1493002] +xref: ICD9CM:360.01 +xref: SNOMEDCT_US_2015_03_01:1493002 +xref: SNOMEDCT_US_2015_03_01:193268004 +xref: UMLS_CUI:C0154773 +is_a: DOID:9724 ! purulent endophthalmitis + +[Term] +id: DOID:11753 +name: biliary calculus with acute cholecystitis +is_obsolete: true + +[Term] +id: DOID:11754 +name: siderosis of eye +synonym: "Siderosis of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:25277000] +synonym: "Siderosis of globe" EXACT [ICD9CM_2006:360.23] +xref: ICD10CM:H44.32 +xref: ICD9CM:360.23 +xref: SNOMEDCT_US_2015_03_01:25277000 +xref: UMLS_CUI:C0271001 +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:11755 +name: choledocholithiasis +xref: MSH:D042883 +xref: SNOMEDCT_US_2015_03_01:197376000 +xref: SNOMEDCT_US_2015_03_01:197397004 +xref: SNOMEDCT_US_2015_03_01:49910001 +xref: UMLS_CUI:C0701818 +is_a: DOID:0060262 ! gallbladder disease +is_a: DOID:4137 ! common bile duct disease + +[Term] +id: DOID:11756 +name: calculus of bile duct with acute cholecystitis +alt_id: DOID:13666 +synonym: "bile duct calculus with acute cholecystitis and obstruction" EXACT [] +synonym: "bile duct calculus with acute cholecystitis and obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:197391003] +synonym: "bile duct calculus with acute cholecystitis and obstruction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197392005] +synonym: "calculus of bile duct with acute cholecystitis with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:43479009] +synonym: "calculus of bile duct with acute cholecystitis, with obstruction" EXACT [ICD9CM_2006:574.31] +is_obsolete: true + +[Term] +id: DOID:11758 +name: iron deficiency anemia +xref: ICD9CM:280.8 +xref: SNOMEDCT_US_2015_03_01:191129007 +xref: SNOMEDCT_US_2015_03_01:191131003 +xref: SNOMEDCT_US_2015_03_01:267514001 +xref: UMLS_CUI:C0029810 +is_a: DOID:11252 ! microcytic anemia +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:11759 +name: hypochromic anemia +synonym: "ANEMIA HYPOCHROMIC" EXACT [MTH:NOCODE] +xref: ICD10CM:D50 +xref: MSH:D000747 +xref: NCI:C34380 +xref: SNOMEDCT_US_2015_03_01:44452003 +xref: UMLS_CUI:C0002884 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:1176 +name: bronchial disease +alt_id: DOID:1175 +alt_id: DOID:12322 +def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11685087] +synonym: "bronchial disorder" EXACT [CSP2005:2596-0903] +synonym: "Bronchospasm" EXACT [NCI2004_11_17:C34439, SNOMEDCT_2005_07_31:140179000, SNOMEDCT_2005_07_31:196175000, SNOMEDCT_2005_07_31:269012003] +xref: MSH:D001982 +xref: SNOMEDCT_US_2015_03_01:41427001 +xref: UMLS_CUI:C0006261 +is_a: DOID:0050161 ! lower respiratory tract disease + +[Term] +id: DOID:11760 +name: Kohler's disease +def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot." [url:http\://en.wikipedia.org/wiki/K%C3%B6hler_disease, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/k/kohlers_disease.aspx] +synonym: "Juvenile osteochondrosis of foot" EXACT [ICD9CM_2006:732.5] +synonym: "Kohler disease" EXACT [] +xref: ICD9CM:732.5 +xref: SNOMEDCT_US_2015_03_01:203392007 +xref: SNOMEDCT_US_2015_03_01:203393002 +xref: SNOMEDCT_US_2015_03_01:203397001 +xref: SNOMEDCT_US_2015_03_01:32491009 +xref: UMLS_CUI:C0158444 +is_a: DOID:8125 ! osteochondrosis + +[Term] +id: DOID:11766 +name: blind hypotensive eye +xref: ICD9CM:360.41 +xref: SNOMEDCT_US_2015_03_01:193291000 +xref: SNOMEDCT_US_2015_03_01:23360000 +xref: SNOMEDCT_US_2015_03_01:4229009 +xref: UMLS_CUI:C0154788 +is_a: DOID:790 ! ocular hypotension + +[Term] +id: DOID:11770 +name: hypersecretion of testicular hormones +synonym: "testicular hyperfunction" EXACT [ICD9CM_2006:257.0] +synonym: "testicular hyperfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:29206004] +is_obsolete: true + +[Term] +id: DOID:11771 +name: spontaneous ocular nystagmus +synonym: "Ocular nystagmus" EXACT [SNOMEDCT_2005_07_31:39771000] +synonym: "Searching eye movements" EXACT [SNOMEDCT_2005_07_31:246784009] +synonym: "visual deprivation nystagmus" EXACT [ICD9CM_2006:379.53] +synonym: "visual deprivation nystagmus (disorder)" EXACT [SNOMEDCT_2005_07_31:45339001] +xref: ICD10CM:H55.03 +xref: ICD9CM:379.53 +xref: MSH:D009759 +xref: SNOMEDCT_US_2015_03_01:246784009 +xref: SNOMEDCT_US_2015_03_01:39771000 +xref: SNOMEDCT_US_2015_03_01:45339001 +xref: UMLS_CUI:C0271384 +is_a: DOID:9650 ! pathologic nystagmus + +[Term] +id: DOID:11772 +name: leukocoria +synonym: "Leucocoria" EXACT [ICD9CM_2006:360.44] +synonym: "Leukocoria (disorder)" EXACT [SNOMEDCT_2005_07_31:1361009] +xref: ICD10CM:H44.53 +xref: ICD9CM:360.44 +xref: SNOMEDCT_US_2015_03_01:1361009 +xref: SNOMEDCT_US_2015_03_01:193288000 +xref: UMLS_CUI:C0152458 +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:11775 +name: hereditary trophedema +synonym: "Hereditary edema of legs" EXACT [ICD9CM_2006:757.0] +synonym: "Hereditary edema of legs [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205542007] +synonym: "Hereditary edema of legs NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:205546005] +synonym: "Hereditary trophedema (disorder)" EXACT [SNOMEDCT_2005_07_31:205543002] +synonym: "Hereditary trophoedeme" EXACT [SNOMEDCT_2005_07_31:75127007] +is_obsolete: true + +[Term] +id: DOID:11776 +name: blind hypertensive eye +synonym: "Blind hypertensive eye (disorder)" EXACT [SNOMEDCT_2005_07_31:264008] +xref: ICD9CM:360.42 +xref: SNOMEDCT_US_2015_03_01:193286001 +xref: SNOMEDCT_US_2015_03_01:264008 +xref: UMLS_CUI:C0154789 +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:11781 +name: regular astigmatism +synonym: "Regular astigmatism (disorder)" EXACT [SNOMEDCT_2005_07_31:68905002] +xref: ICD10CM:H52.22 +xref: ICD9CM:367.21 +xref: SNOMEDCT_US_2015_03_01:68905002 +xref: UMLS_CUI:C0152193 +is_a: DOID:11782 ! astigmatism + +[Term] +id: DOID:11782 +name: astigmatism +def: "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision." [url:http\://en.wikipedia.org/wiki/Astigmatism_%28eye%29] +comment: OMIM mapping confirmed by DO. [SN]. +xref: CSP:1116-1831 +xref: EFO:0004222 +xref: HP:0000483 +xref: ICD10CM:H52.2 +xref: ICD10CM:H52.20 +xref: ICD9CM:367.2 +xref: ICD9CM:367.20 +xref: MSH:D001251 +xref: OMIM:603047 +xref: SNOMEDCT_US_2015_03_01:155134009 +xref: SNOMEDCT_US_2015_03_01:193626006 +xref: SNOMEDCT_US_2015_03_01:193627002 +xref: SNOMEDCT_US_2015_03_01:82649003 +xref: UMLS_CUI:C0004106 +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:11783 +name: necrosis of ear ossicle +synonym: "partial loss or necrosis of ear ossicles" EXACT [] +xref: ICD9CM:385.24 +xref: UMLS_CUI:C0155488 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:11786 +name: splenic sequestration +xref: ICD9CM:289.52 +xref: UMLS_CUI:C1260402 +is_a: DOID:2529 ! splenic disease + +[Term] +id: DOID:11787 +name: chronic congestive splenomegaly +synonym: "chronic congestive splenomegaly (disorder)" EXACT [SNOMEDCT_2005_07_31:191382009] +xref: ICD10CM:D73.2 +xref: ICD9CM:289.51 +xref: SNOMEDCT_US_2015_03_01:191382009 +xref: UMLS_CUI:C0398661 +is_a: DOID:2529 ! splenic disease + +[Term] +id: DOID:11793 +name: phthisical cornea +synonym: "Phthisical cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:28143002] +xref: ICD9CM:371.05 +xref: SNOMEDCT_US_2015_03_01:193801004 +xref: SNOMEDCT_US_2015_03_01:28143002 +xref: UMLS_CUI:C0155102 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:11797 +name: chronic laryngitis +def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease." [url:http\://en.wikipedia.org/wiki/Laryngitis, url:http\://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263] +xref: ICD10CM:J37.0 +xref: ICD9CM:476.0 +xref: NCI:C26975 +xref: SNOMEDCT_US_2015_03_01:155535001 +xref: SNOMEDCT_US_2015_03_01:195815004 +xref: SNOMEDCT_US_2015_03_01:195816003 +xref: SNOMEDCT_US_2015_03_01:29951006 +xref: UMLS_CUI:C0155836 +is_a: DOID:3437 ! laryngitis + +[Term] +id: DOID:118 +name: pericardial effusion +def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity." [url:http\://en.wikipedia.org/wiki/Pericardial_effusion] +xref: MSH:D010490 +xref: NCI:C3319 +xref: SNOMEDCT_US_2015_03_01:373945007 +xref: SNOMEDCT_US_2015_03_01:70370001 +xref: UMLS_CUI:C0031039 +is_a: DOID:0050829 ! pericardium disease + +[Term] +id: DOID:11801 +name: protein-energy malnutrition +xref: ICD10CM:E46 +xref: ICD9CM:263.9 +xref: MSH:D011502 +xref: NCI:C34952 +xref: SNOMEDCT_US_2015_03_01:190608007 +xref: SNOMEDCT_US_2015_03_01:238107002 +xref: SNOMEDCT_US_2015_03_01:267411007 +xref: SNOMEDCT_US_2015_03_01:72608005 +xref: UMLS_CUI:C0033677 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:11802 +name: protein deficiency +synonym: "protein deficiency" EXACT [CSP2005:2116-8149] +is_obsolete: true + +[Term] +id: DOID:11806 +name: macrodactylia of fingers +synonym: "Macrodactylia" EXACT [MTHICD9_2006:755.57] +synonym: "Macrodactylia (fingers)" EXACT [ICD9CM_2006:755.57] +synonym: "Macrodactylia of fingers (disorder)" EXACT [SNOMEDCT_2005_07_31:69381005] +is_obsolete: true + +[Term] +id: DOID:11809 +name: bladder neck cancer +synonym: "malignant neoplasm of urinary bladder neck" EXACT [SNOMEDCT_2005_07_31:94124002] +synonym: "malignant tumor of bladder neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188244007] +xref: ICD10CM:C67.5 +xref: ICD9CM:188.5 +xref: SNOMEDCT_US_2015_03_01:188244007 +xref: SNOMEDCT_US_2015_03_01:94124002 +xref: UMLS_CUI:C0153613 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11810 +name: metastatic neoplasm to the bladder +synonym: "metastatic tumor to the urinary bladder" EXACT [NCI2004_11_17:C7650] +synonym: "secondary malignant neoplasm of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:94186002] +is_obsolete: true + +[Term] +id: DOID:11811 +name: urinary bladder posterior wall cancer +synonym: "malignant neoplasm of posterior wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188243001] +xref: ICD10CM:C67.4 +xref: ICD9CM:188.4 +xref: SNOMEDCT_US_2015_03_01:188243001 +xref: SNOMEDCT_US_2015_03_01:93972009 +xref: UMLS_CUI:C0153612 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11812 +name: bladder sarcoma +def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder." [url:http\://emedicine.medscape.com/article/438262-overview] +synonym: "sarcoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:278046008] +synonym: "sarcoma of the urinary bladder" EXACT [NCI2004_11_17:C4669] +xref: NCI:C4669 +xref: SNOMEDCT_US_2015_03_01:278046008 +xref: UMLS_CUI:C0349666 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11813 +name: bladder trigone cancer +synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [SNOMEDCT_2005_07_31:94109006] +synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [ICD9CM_2006:188.0] +synonym: "malignant tumor of trigone of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:254931006] +synonym: "malignant tumor of trigone of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188239000] +xref: ICD10CM:C67.0 +xref: ICD9CM:188.0 +xref: SNOMEDCT_US_2015_03_01:188239000 +xref: SNOMEDCT_US_2015_03_01:254931006 +xref: SNOMEDCT_US_2015_03_01:94109006 +xref: UMLS_CUI:C0496826 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11814 +name: urinary bladder anterior wall cancer +synonym: "malignant neoplasm of anterior wall of urinary bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188242006] +xref: ICD10CM:C67.3 +xref: ICD9CM:188.3 +xref: SNOMEDCT_US_2015_03_01:188242006 +xref: SNOMEDCT_US_2015_03_01:93675008 +xref: UMLS_CUI:C0153611 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11815 +name: recurrent malignant bladder neoplasm +is_obsolete: true + +[Term] +id: DOID:11816 +name: vitreous syneresis +synonym: "Vitreous degeneration" EXACT [ICD9CM_2006:379.21] +synonym: "Vitreous degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:60189009] +synonym: "Vitreous syneresis (finding)" EXACT [SNOMEDCT_2005_07_31:247090008] +xref: ICD10CM:H43.81 +xref: ICD9CM:379.21 +xref: SNOMEDCT_US_2015_03_01:247090008 +xref: SNOMEDCT_US_2015_03_01:60189009 +xref: UMLS_CUI:C0155366 +is_a: DOID:9720 ! vitreous disease +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:11817 +name: urachus cancer +synonym: "malignant tumor of urachus (disorder)" EXACT [SNOMEDCT_2005_07_31:363456000] +xref: ICD10CM:C67.7 +xref: ICD9CM:188.7 +xref: SNOMEDCT_US_2015_03_01:363456000 +xref: SNOMEDCT_US_2015_03_01:94120006 +xref: UMLS_CUI:C0153615 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11818 +name: ureteric orifice cancer +synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [SNOMEDCT_2005_07_31:94122003] +synonym: "malignant tumor of ureteric orifice (disorder)" EXACT [SNOMEDCT_2005_07_31:188245008] +synonym: "Orifice of the Ureter" EXACT [NCI2004_11_17:C12337] +xref: ICD10CM:C67.6 +xref: ICD9CM:188.6 +xref: NCI:C12337 +xref: SNOMEDCT_US_2015_03_01:188245008 +xref: SNOMEDCT_US_2015_03_01:94122003 +xref: UMLS_CUI:C0153614 +is_a: DOID:11054 ! urinary bladder cancer +is_a: DOID:11819 ! ureter cancer + +[Term] +id: DOID:11819 +name: ureter cancer +def: "A urinary system cancer that is located_in the ureter." [url:http\://en.wikipedia.org/wiki/Ureter_cancer] +comment: OMIM mapping confirmed by DO. [SN]. +subset: TopNodes_DOcancerslim +synonym: "malignant tumour of ureter" EXACT [SNOMEDCT_2005_07_31:154543003] +synonym: "malignant ureteral tumor" EXACT [NCI2004_11_17:C7543] +xref: ICD10CM:C66 +xref: ICD9CM:189.2 +xref: MSH:D014516 +xref: NCI:C7543 +xref: OMIM:191600 +xref: SNOMEDCT_US_2015_03_01:154543003 +xref: SNOMEDCT_US_2015_03_01:363458004 +xref: SNOMEDCT_US_2015_03_01:94121005 +xref: UMLS_CUI:C0153619 +is_a: DOID:3996 ! urinary system cancer + +[Term] +id: DOID:11820 +name: bladder dome cancer +synonym: "malignant neoplasm of apex of urinary bladder" EXACT [SNOMEDCT_2005_07_31:93678005] +synonym: "malignant neoplasm of dome of urinary bladder" EXACT [ICD9CM_2006:188.1] +synonym: "malignant tumor of vault of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:188240003] +synonym: "Superior Surface of bladder" EXACT [NCI2004_11_17:C12332] +xref: ICD10CM:C67.1 +xref: ICD9CM:188.1 +xref: NCI:C12332 +xref: SNOMEDCT_US_2015_03_01:188240003 +xref: SNOMEDCT_US_2015_03_01:93678005 +xref: UMLS_CUI:C0496827 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11821 +name: bladder lymphoma +synonym: "Lymphoma of the urinary bladder" EXACT [NCI2004_11_17:C6164] +xref: NCI:C6164 +xref: UMLS_CUI:C1332561 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:11823 +name: hepatorenal syndrome +synonym: "Hepatorenal syndrome" EXACT [ICD9CM_2006:572.4] +synonym: "Hepatorenal syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:51292008] +xref: ICD10CM:K76.7 +xref: ICD9CM:572.4 +xref: MSH:D006530 +xref: NCI:C113400 +xref: SNOMEDCT_US_2015_03_01:51292008 +xref: UMLS_CUI:C0019212 +is_a: DOID:3021 ! acute kidney failure +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:11824 +name: multicentric reticulohistiocytosis +def: "A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis." [url:http\://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis, url:http\://www.ncbi.nlm.nih.gov/pubmed/23130232] +synonym: "Lipoid dermatoarthritis (disorder)" EXACT [SNOMEDCT_2005_07_31:84241008] +synonym: "Multicentric reticulohistiocytosis" EXACT [SNOMEDCT_2005_07_31:190801003] +xref: ICD10CM:E78.81 +xref: NCI:C27896 +xref: ORDO:139436 +xref: SNOMEDCT_US_2015_03_01:190801003 +xref: SNOMEDCT_US_2015_03_01:84241008 +xref: UMLS_CUI:C0311284 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:11828 +name: visual cortex disorder due to vascular disorder +is_obsolete: true + +[Term] +id: DOID:11829 +name: degenerative myopia +synonym: "degenerative progressive high myopia (disorder)" EXACT [SNOMEDCT_2005_07_31:32022003] +synonym: "malignant myopia (disorder)" EXACT [SNOMEDCT_2005_07_31:193276002] +synonym: "Pathological myopia" EXACT [SNOMEDCT_2005_07_31:193625005] +synonym: "pathological myopia" EXACT [] +synonym: "progressive high (degenerative) myopia" EXACT [ICD9CM_2006:360.21] +synonym: "progressive high myopia" EXACT [MTHICD9_2006:360.21] +xref: EFO:0004207 +xref: ICD10CM:H44.2 +xref: ICD9CM:360.21 +xref: MSH:D047728 +xref: SNOMEDCT_US_2015_03_01:193276002 +xref: SNOMEDCT_US_2015_03_01:193278001 +xref: SNOMEDCT_US_2015_03_01:193625005 +xref: SNOMEDCT_US_2015_03_01:32022003 +xref: UMLS_CUI:C0154778 +is_a: DOID:11830 ! myopia +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:1183 +name: nephrotic syndrome with lesion of membranoproliferative glomerulonephritis +synonym: "Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis" EXACT [ICD9CM_2006:581.2] +is_obsolete: true + +[Term] +id: DOID:11830 +name: myopia +def: "A refractive error characterized by the inability to see farther objects clearly." [url:http\://en.wikipedia.org/wiki/Myopia, url:http\://ghr.nlm.nih.gov/glossary=myopia, url:http\://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "near vision" EXACT [CSP2005:1116-2455] +synonym: "near-sightedness" EXACT [MTHICD9_2006:367.1] +synonym: "short-sightedness" EXACT [] +xref: EFO:0003927 +xref: ICD10CM:H52.1 +xref: ICD9CM:367.1 +xref: MSH:D009216 +xref: NCI:C102533 +xref: OMIM:160700 +xref: OMIM:255500 +xref: OMIM:300613 +xref: OMIM:310460 +xref: OMIM:603221 +xref: OMIM:608367 +xref: OMIM:608474 +xref: OMIM:608908 +xref: OMIM:609256 +xref: OMIM:609257 +xref: OMIM:609258 +xref: OMIM:609259 +xref: OMIM:609994 +xref: OMIM:609995 +xref: OMIM:610320 +xref: OMIM:612554 +xref: OMIM:612717 +xref: OMIM:613959 +xref: OMIM:613969 +xref: OMIM:614166 +xref: OMIM:614167 +xref: OMIM:615420 +xref: OMIM:615431 +xref: OMIM:615946 +xref: SNOMEDCT_US_2015_03_01:155133003 +xref: SNOMEDCT_US_2015_03_01:57190000 +xref: UMLS_CUI:C0027092 +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:11831 +name: cortical blindness +synonym: "Cortical blindness" EXACT [ICD9CM_2006:377.75] +synonym: "Cortical blindness (disorder)" EXACT [SNOMEDCT_2005_07_31:68574006] +xref: ICD10CM:H47.61 +xref: ICD9CM:377.75 +xref: MSH:D019575 +xref: SNOMEDCT_US_2015_03_01:68574006 +xref: UMLS_CUI:C0155320 +is_a: DOID:5691 ! visual cortex disease + +[Term] +id: DOID:11832 +name: visual epilepsy +synonym: "epilepsy, visual" EXACT [MTHICD9_2006:345.5] +xref: MSH:D012640 +xref: NCI:C3980 +xref: SNOMEDCT_US_2015_03_01:39194005 +xref: UMLS_CUI:C0270824 +is_a: DOID:1826 ! epilepsy syndrome +is_a: DOID:5691 ! visual cortex disease + +[Term] +id: DOID:11836 +name: clubfoot +alt_id: DOID:0001874 +def: "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities." [PMID:17610748, url:http\://en.wikipedia.org/wiki/Club_foot] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "congenital clubfoot" EXACT [] +synonym: "Congenital equinovarus" EXACT [MTHICD9_2006:754.51] +synonym: "congenital talipes equinovarus" EXACT [] +synonym: "Equinovarus deformity of foot (finding)" EXACT [SNOMEDCT_2005_07_31:249808002] +xref: ICD10CM:Q66.0 +xref: ICD10CM:Q66.89 +xref: ICD9CM:754.51 +xref: MSH:D003025 +xref: NCI:C84641 +xref: OMIM:119800 +xref: SNOMEDCT_US_2015_03_01:15169008 +xref: SNOMEDCT_US_2015_03_01:156985005 +xref: SNOMEDCT_US_2015_03_01:156987002 +xref: SNOMEDCT_US_2015_03_01:205089003 +xref: SNOMEDCT_US_2015_03_01:249808002 +xref: SNOMEDCT_US_2015_03_01:253957000 +xref: SNOMEDCT_US_2015_03_01:268340009 +xref: SNOMEDCT_US_2015_03_01:268341008 +xref: SNOMEDCT_US_2015_03_01:33163000 +xref: SNOMEDCT_US_2015_03_01:397932003 +xref: UMLS_CUI:C0009081 +is_a: DOID:0080006 ! bone development disease + +[Term] +id: DOID:11837 +name: malignant neoplasm of scapula and long bones of upper limb +is_obsolete: true + +[Term] +id: DOID:11838 +name: penis sarcoma +def: "A sarcoma and malignant neoplasm of penis that is located_in the penis." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20penis&c=pc&ss=] +synonym: "sarcoma of penis" EXACT [NCI2004_11_17:C7730] +xref: NCI:C7730 +xref: UMLS_CUI:C0238352 +is_a: DOID:11615 ! penile cancer + +[Term] +id: DOID:11839 +name: glans penis cancer +synonym: "malignant neoplasm of glans penis" EXACT [ICD9CM_2006:187.2] +synonym: "malignant tumor of glans penis (disorder)" EXACT [SNOMEDCT_2005_07_31:363451005] +synonym: "malignant tumour of glans penis" EXACT [SNOMEDCT_2005_07_31:93813005] +xref: ICD10CM:C60.1 +xref: ICD9CM:187.2 +xref: SNOMEDCT_US_2015_03_01:363451005 +xref: SNOMEDCT_US_2015_03_01:93813005 +xref: UMLS_CUI:C0153599 +is_a: DOID:11615 ! penile cancer + +[Term] +id: DOID:1184 +name: nephrotic syndrome +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "finnish congenital nephrosis" EXACT [] +xref: ICD10CM:N04 +xref: ICD9CM:581 +xref: MSH:D009404 +xref: NCI:C34845 +xref: OMIM:256300 +xref: OMIM:256370 +xref: OMIM:600995 +xref: OMIM:610725 +xref: OMIM:614196 +xref: OMIM:614199 +xref: OMIM:615008 +xref: OMIM:615244 +xref: OMIM:615573 +xref: OMIM:615861 +xref: SNOMEDCT_US_2015_03_01:155851004 +xref: SNOMEDCT_US_2015_03_01:197611005 +xref: SNOMEDCT_US_2015_03_01:52254009 +xref: UMLS_CUI:C0027726 +is_a: DOID:2527 ! nephrosis + +[Term] +id: DOID:11840 +name: coronary artery vasospasm +synonym: "Coronary artery spasm (disorder)" EXACT [SNOMEDCT_2005_07_31:23687008] +synonym: "Coronary Vasospasm" EXACT [NCI2004_11_17:C34515] +xref: MSH:D003329 +xref: NCI:C34515 +xref: SNOMEDCT_US_2015_03_01:23687008 +xref: UMLS_CUI:C0010073 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:11843 +name: coronary artery anomaly +synonym: "Congenital anomaly of coronary artery (disorder)" EXACT [SNOMEDCT_2005_07_31:28574005] +synonym: "Coronary artery abnormality (disorder)" EXACT [SNOMEDCT_2005_07_31:361215006] +synonym: "Coronary artery abnormality [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:204373000] +synonym: "Coronary artery anomaly NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204380003] +synonym: "Coronary artery anomaly, congenital" EXACT [ICD9CM_2006:746.85] +xref: ICD9CM:746.85 +xref: SNOMEDCT_US_2015_03_01:204373000 +xref: SNOMEDCT_US_2015_03_01:204380003 +xref: SNOMEDCT_US_2015_03_01:28574005 +xref: SNOMEDCT_US_2015_03_01:361215006 +xref: UMLS_CUI:C0158623 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:11847 +name: coronary thrombosis +synonym: "Coronary artery thrombosis (disorder)" EXACT [SNOMEDCT_2005_07_31:66514008] +xref: ICD10CM:I21 +xref: ICD10CM:I22 +xref: MSH:D003328 +xref: SNOMEDCT_US_2015_03_01:155304006 +xref: SNOMEDCT_US_2015_03_01:194796000 +xref: SNOMEDCT_US_2015_03_01:266288001 +xref: SNOMEDCT_US_2015_03_01:398274000 +xref: SNOMEDCT_US_2015_03_01:66514008 +xref: UMLS_CUI:C0010072 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:11849 +name: degenerative changes of ciliary body +synonym: "Ciliary body degenerative changes (disorder)" EXACT [SNOMEDCT_2005_07_31:193508003] +synonym: "degenerative changes of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:40153005] +is_obsolete: true + +[Term] +id: DOID:11850 +name: transient refractive change +synonym: "Transient refractive change (disorder)" EXACT [SNOMEDCT_2005_07_31:81519008] +xref: ICD9CM:367.81 +xref: SNOMEDCT_US_2015_03_01:81519008 +xref: UMLS_CUI:C0155000 +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:11851 +name: indeterminate leprosy +def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [url:http\://emedicine.medscape.com/article/1104977-clinical#a0217] +subset: gram-positive_bacterial_infectious_disease +synonym: "Indeterminate leprosy (disorder)" EXACT [SNOMEDCT_2005_07_31:14386001] +synonym: "Indeterminate leprosy [group I]" EXACT [ICD9CM_2006:030.2] +synonym: "Uncharacteristic leprosy" EXACT [MTHICD9_2006:030.2] +xref: ICD10CM:A30.0 +xref: ICD9CM:030.2 +xref: SNOMEDCT_US_2015_03_01:14386001 +xref: UMLS_CUI:C0021192 +is_a: DOID:1024 ! leprosy + +[Term] +id: DOID:11852 +name: aortic valve syphilitic endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic endocarditis of aortic valve (disorder)" EXACT [SNOMEDCT_2005_07_31:278480000] +is_obsolete: true + +[Term] +id: DOID:11853 +name: monocular exotropia +xref: ICD10CM:H50.11 +xref: ICD9CM:378.11 +xref: MSH:D005099 +xref: SNOMEDCT_US_2015_03_01:194087008 +xref: SNOMEDCT_US_2015_03_01:5725006 +xref: UMLS_CUI:C0152206 +is_a: DOID:1143 ! exotropia + +[Term] +id: DOID:11854 +name: monocular exotropia with A pattern +synonym: "Monocular exotropia with A pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:45062007] +is_obsolete: true + +[Term] +id: DOID:11855 +name: intermittent monocular exotropia +synonym: "Intermittent exotropia, monocular" EXACT [ICD9CM_2006:378.23] +synonym: "Intermittent monocular exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194103006] +synonym: "Monocular intermittent exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:67028000] +is_obsolete: true + +[Term] +id: DOID:11856 +name: monocular exotropia with V pattern +synonym: "Monocular exotropia with V pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:111529008] +is_obsolete: true + +[Term] +id: DOID:11861 +name: prolonged pregnancy +is_obsolete: true + +[Term] +id: DOID:11862 +name: late pregnancy +is_obsolete: true + +[Term] +id: DOID:11864 +name: peripheral focal chorioretinitis +synonym: "Focal choroiditis and chorioretinitis, peripheral" EXACT [ICD9CM_2006:363.04] +synonym: "peripheral focal choroiditis AND chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:56787009] +xref: ICD9CM:363.04 +xref: SNOMEDCT_US_2015_03_01:56787009 +xref: UMLS_CUI:C0339394 +is_a: DOID:1979 ! focal chorioretinitis + +[Term] +id: DOID:11868 +name: chronic erythremia +xref: ICD9CM:207.1 +xref: SNOMEDCT_US_2015_03_01:188753004 +xref: SNOMEDCT_US_2015_03_01:190042004 +xref: SNOMEDCT_US_2015_03_01:269478004 +xref: SNOMEDCT_US_2015_03_01:48292007 +xref: SNOMEDCT_US_2015_03_01:92810002 +xref: UMLS_CUI:C0152272 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:1187 +name: tibial neuropathy +synonym: "Posterior tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:399364006] +synonym: "Tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:399076001] +synonym: "Tibial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:359842002] +synonym: "Tibial neuropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:35062009] +xref: MSH:D020429 +xref: SNOMEDCT_US_2015_03_01:35062009 +xref: SNOMEDCT_US_2015_03_01:359842002 +xref: SNOMEDCT_US_2015_03_01:399076001 +xref: SNOMEDCT_US_2015_03_01:399364006 +xref: UMLS_CUI:C0751932 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:11870 +name: Pick's disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dementia in Pick's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:192174003] +synonym: "LOBAR ATROPHY OF BRAIN" EXACT [] +synonym: "Pick disease" EXACT [] +synonym: "PICK DISEASE OF BRAIN" EXACT [] +xref: ICD10CM:G31.01 +xref: ICD9CM:331.11 +xref: MSH:D020774 +xref: NCI:C85008 +xref: OMIM:172700 +xref: SNOMEDCT_US_2015_03_01:13092008 +xref: SNOMEDCT_US_2015_03_01:154998003 +xref: SNOMEDCT_US_2015_03_01:267688001 +xref: UMLS_CUI:C0236642 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:11871 +name: macular keratitis +synonym: "Macular keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:2853006] +synonym: "Macular keratitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193769006] +xref: ICD10CM:H16.11 +xref: ICD9CM:370.22 +xref: SNOMEDCT_US_2015_03_01:193769006 +xref: SNOMEDCT_US_2015_03_01:2853006 +xref: UMLS_CUI:C0155076 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:11872 +name: Staphylococcus aureus septicemia +subset: gram-positive_bacterial_infectious_disease +synonym: "Septicemia due to Staphylococcus aureus (disorder)" EXACT [SNOMEDCT_2005_07_31:186385009] +is_obsolete: true + +[Term] +id: DOID:11873 +name: staphylococcal septicemia +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:11874 +name: abnormal threshold of rods +synonym: "abnormal dark adaptation curve" EXACT [ICD9CM_2006:368.63] +synonym: "abnormal dark adaptation curve (disorder)" EXACT [SNOMEDCT_2005_07_31:50455002] +synonym: "abnormal dark adaptive curve NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193692003] +xref: ICD10CM:H53.61 +xref: ICD9CM:368.63 +xref: SNOMEDCT_US_2015_03_01:193692003 +xref: SNOMEDCT_US_2015_03_01:50455002 +xref: UMLS_CUI:C0155019 +is_a: DOID:8499 ! night blindness + +[Term] +id: DOID:11875 +name: denture stomatitis +synonym: "Denture sore mouth" EXACT [MTHICD9_2006:528.9] +synonym: "Denture stomatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69254008] +synonym: "Denture stomatitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:196576008] +xref: ICD10CM:K12.1 +xref: MSH:D013282 +xref: SNOMEDCT_US_2015_03_01:196576008 +xref: SNOMEDCT_US_2015_03_01:69254008 +xref: UMLS_CUI:C0038364 +is_a: DOID:9637 ! stomatitis + +[Term] +id: DOID:1188 +name: mononeuropathy +synonym: "Mononeuropathy" EXACT [SNOMEDCT_2005_07_31:304595001] +synonym: "Mononeuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128189008] +xref: ICD10CM:G58.9 +xref: MSH:D020422 +xref: SNOMEDCT_US_2015_03_01:128189008 +xref: SNOMEDCT_US_2015_03_01:304595001 +xref: UMLS_CUI:C0494491 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:11885 +name: ureteral benign neoplasm +synonym: "neoplasm of ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:126882009] +synonym: "ureteral tumor" EXACT [NCI2004_11_17:C3427] +xref: MSH:D014516 +xref: NCI:C3427 +xref: SNOMEDCT_US_2015_03_01:126882009 +xref: UMLS_CUI:C0041955 +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:11887 +name: ureter leiomyoma +synonym: "ureteral leiomyoma" EXACT [NCI2004_11_17:C6161] +xref: NCI:C6161 +xref: UMLS_CUI:C1336875 +is_a: DOID:11885 ! ureteral benign neoplasm + +[Term] +id: DOID:11888 +name: Schwannoma of ureter +synonym: "ureteral Schwannoma" EXACT [NCI2004_11_17:C6162] +xref: NCI:C6162 +xref: UMLS_CUI:C1336877 +is_a: DOID:956 ! peripheral nerve schwannoma + +[Term] +id: DOID:11889 +name: female breast nipple and areola cancer +synonym: "malignant neoplasm of nipple and areola of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188147009] +synonym: "malignant neoplasm of nipple or areola of female breast NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188150007] +xref: ICD9CM:174.0 +xref: SNOMEDCT_US_2015_03_01:188147009 +xref: SNOMEDCT_US_2015_03_01:188150007 +xref: UMLS_CUI:C0024621 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:11892 +name: Amoebozoa infectious disease +def: "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa." [url:http\://en.wikipedia.org/wiki/Amoebozoa] +synonym: "sarcodina" RELATED [] +is_obsolete: true + +[Term] +id: DOID:11893 +name: cutaneous amebiasis +def: "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16780468] +synonym: "Amebic skin ulceration" EXACT [ICD9CM_2006:006.6] +synonym: "amebic ulcer of skin" EXACT [] +synonym: "Amebic ulcer of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:400086005] +synonym: "Amoebic skin ulceration" EXACT [SNOMEDCT_2005_07_31:54065007] +is_obsolete: true + +[Term] +id: DOID:11896 +name: Acanthamoeba keratitis +def: "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." [url:http\://www.cdc.gov/acanthamoeba/disease.html] +synonym: "Acanthameba keratitis" EXACT [SNOMEDCT_2005_07_31:187243004] +synonym: "Acanthamoeba keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:231896005] +is_obsolete: true + +[Term] +id: DOID:11897 +name: Blastocystis hominis infectious disease +alt_id: DOID:0050248 +def: "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Blastocystis.htm] +is_obsolete: true + +[Term] +id: DOID:119 +name: vaginal cancer +alt_id: DOID:1902 +def: "A female reproductive system cancer that is located_in the vagina." [url:http\://www.cancer.gov/dictionary?CdrID=523460] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of vagina" EXACT [ICD9CM_2006:184.0] +synonym: "malignant tumor of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:363445000] +synonym: "malignant vaginal tumor" EXACT [NCI2004_11_17:C7410] +synonym: "neoplasm of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:126921000] +synonym: "vagina neoplasm" EXACT [CSP2005:2016-2004] +synonym: "vaginal tumor" EXACT [NCI2004_11_17:C3437] +xref: ICD10CM:C52 +xref: ICD9CM:184.0 +xref: MSH:D014625 +xref: NCI:C3437 +xref: NCI:C7410 +xref: SNOMEDCT_US_2015_03_01:126921000 +xref: SNOMEDCT_US_2015_03_01:154534007 +xref: SNOMEDCT_US_2015_03_01:188210000 +xref: SNOMEDCT_US_2015_03_01:363445000 +xref: UMLS_CUI:C0042237 +xref: UMLS_CUI:C0042258 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:11902 +name: cerebral amebiasis +def: "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses." [url:http\://emedicine.medscape.com/article/996092-overview, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8126521] +synonym: "amebic abscess of brain" EXACT [] +synonym: "Amebic brain abscess" EXACT [ICD9CM_2006:006.5] +synonym: "Amebic brain abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:27908001] +is_obsolete: true + +[Term] +id: DOID:11905 +name: labium majus cancer +synonym: "malignant neoplasm of labia majora" EXACT [SNOMEDCT_2005_07_31:93850006] +synonym: "malignant neoplasm of labia majora" EXACT [ICD9CM_2006:184.1] +synonym: "malignant neoplasm of labia majora (disorder)" EXACT [SNOMEDCT_2005_07_31:363446004] +synonym: "malignant neoplasm of labia majora NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188212008] +synonym: "malignant tumor of Labia Majora" EXACT [NCI2004_11_17:C7638] +xref: ICD10CM:C51.0 +xref: ICD9CM:184.1 +xref: NCI:C7638 +xref: SNOMEDCT_US_2015_03_01:188212008 +xref: SNOMEDCT_US_2015_03_01:363446004 +xref: SNOMEDCT_US_2015_03_01:93850006 +xref: UMLS_CUI:C0496814 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:11907 +name: ecthyma +subset: gram-positive_bacterial_infectious_disease +synonym: "Ecthyma (disorder)" EXACT [SNOMEDCT_2005_07_31:85791004] +xref: ICD10CM:L01.09 +xref: MSH:D004473 +xref: SNOMEDCT_US_2015_03_01:85791004 +xref: UMLS_CUI:C0013568 +is_a: DOID:8504 ! impetigo + +[Term] +id: DOID:11914 +name: gastroparesis +synonym: "gastric atonia (disorder)" EXACT [SNOMEDCT_2005_07_31:196753007] +synonym: "Gastroparalysis" EXACT [MTHICD9_2006:536.3] +synonym: "Gastroparesis syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:77164002] +xref: ICD10CM:K31.84 +xref: ICD9CM:536.3 +xref: MSH:D018589 +xref: NCI:C80512 +xref: SNOMEDCT_US_2015_03_01:196753007 +xref: SNOMEDCT_US_2015_03_01:235675006 +xref: SNOMEDCT_US_2015_03_01:77164002 +xref: UMLS_CUI:C0152020 +is_a: DOID:1159 ! functional gastric disease + +[Term] +id: DOID:11917 +name: tinea cruris +def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze." [url:http\://en.wikipedia.org/wiki/Tinea_cruris] +synonym: "(Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris)" EXACT [SNOMEDCT_2005_07_31:186989008] +synonym: "Dermatophytosis of Groin and Perianal Area" EXACT [NCI2004_11_17:C34535] +synonym: "Dermatophytosis of groin and perianal area (disorder)" EXACT [SNOMEDCT_2005_07_31:266150008] +synonym: "Dermatophytosis of groin and perianal area NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186992007] +xref: ICD9CM:110.3 +xref: NCI:C34535 +xref: SNOMEDCT_US_2015_03_01:186989008 +xref: SNOMEDCT_US_2015_03_01:186992007 +xref: SNOMEDCT_US_2015_03_01:266150008 +xref: SNOMEDCT_US_2015_03_01:59089002 +xref: UMLS_CUI:C0011638 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:1192 +name: peripheral nervous system neoplasm +alt_id: DOID:3194 +def: "A nervous system cancer that is located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Peripheral_nervous_system] +subset: TopNodes_DOcancerslim +synonym: "neoplasm of peripheral nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126980002] +synonym: "nerve sheath neoplasm" EXACT [CSP2005:2012-6947] +synonym: "nerve sheath tumors" EXACT [] +synonym: "tumor of PNS" EXACT [NCI2004_11_17:C3321] +xref: MSH:D010524 +xref: MSH:D018317 +xref: NCI:C3321 +xref: NCI:C4972 +xref: SNOMEDCT_US_2015_03_01:115242003 +xref: SNOMEDCT_US_2015_03_01:126980002 +xref: SNOMEDCT_US_2015_03_01:134214003 +xref: SNOMEDCT_US_2015_03_01:189946005 +xref: SNOMEDCT_US_2015_03_01:189953001 +xref: UMLS_CUI:C0031118 +xref: UMLS_CUI:C0206727 +is_a: DOID:3093 ! nervous system cancer + +[Term] +id: DOID:11920 +name: tracheal cancer +def: "A respiratory system cancer that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer] +subset: TopNodes_DOcancerslim +synonym: "Ca trachea" EXACT [SNOMEDCT_2005_07_31:269562004] +synonym: "malignant neoplasm of trachea" EXACT [MTH:NOCODE] +synonym: "malignant Tracheal tumor" EXACT [NCI2004_11_17:C9346] +synonym: "malignant tumor of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:363432004] +synonym: "tracheal neoplasm" EXACT [] +xref: ICD10CM:C33 +xref: ICD9CM:162.0 +xref: NCI:C9346 +xref: SNOMEDCT_US_2015_03_01:187855003 +xref: SNOMEDCT_US_2015_03_01:269562004 +xref: SNOMEDCT_US_2015_03_01:363432004 +xref: UMLS_CUI:C0153489 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:11934 +name: head and neck cancer +def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." [url:http\://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=257519, url:http\://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php] +subset: TopNodes_DOcancerslim +synonym: "head and neck neoplasm" EXACT [MTH:NOCODE] +synonym: "head and neck tumours" EXACT [] +synonym: "head/neck neoplasm" EXACT [CSP2005:2005-4325] +synonym: "tumor of head and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:255055008] +xref: MSH:D006258 +xref: NCI:C3077 +xref: SNOMEDCT_US_2015_03_01:255055008 +xref: UMLS_CUI:C0018671 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:11939 +name: schizo-affective type schizophrenia subchronic state +is_obsolete: true + +[Term] +id: DOID:11943 +name: Trichomonas vaginitis +def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] +synonym: "Leukorrhoea vaginalis - trichomonal" EXACT [SNOMEDCT_2005_07_31:187201006] +synonym: "Trichomonal leukorrhoea" EXACT [SNOMEDCT_2005_07_31:266165009] +synonym: "Trichomonal vaginitis &/or vulvovaginitis" EXACT [SNOMEDCT_2005_07_31:187202004] +synonym: "Trichomonal vaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:276877003] +synonym: "Trichomonal vulvovaginitis" EXACT [ICD9CM_2006:131.01] +synonym: "Trichomonal vulvovaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:81598001] +synonym: "vaginal trichomoniasis (disorder)" EXACT [SNOMEDCT_2005_07_31:500000] +is_obsolete: true + +[Term] +id: DOID:11944 +name: Trichomonas prostatitis +def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] +synonym: "Trichomonal prostatitis" EXACT [ICD9CM_2006:131.03] +synonym: "Trichomonal prostatitis" EXACT [SNOMEDCT_2005_07_31:187203009] +synonym: "Trichomonal prostatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:71590000] +is_obsolete: true + +[Term] +id: DOID:11945 +name: Trichomonas cystitis +def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color." [url:http\://www.merck.com/mmpe/sec14/ch194/ch194j.html] +synonym: "Trichomonal cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:197850006] +is_obsolete: true + +[Term] +id: DOID:11946 +name: habitual abortion +synonym: "Aborter - recurrent" EXACT [SNOMEDCT_2005_07_31:146811001] +synonym: "Aborter - recurrent" EXACT [SNOMEDCT_2005_07_31:268574009] +synonym: "chronic spontaneous abortion" EXACT [CSP2005:2404-4533] +synonym: "Habitual aborter" EXACT [SNOMEDCT_2005_07_31:54726000] +synonym: "Habitual aborter - unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:199086002] +synonym: "Habitual aborter NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:199090000] +synonym: "recurrent abortion (disorder)" EXACT [SNOMEDCT_2005_07_31:102878001] +synonym: "recurrent miscarriage" EXACT [SNOMEDCT_2005_07_31:156126009] +is_obsolete: true + +[Term] +id: DOID:11947 +name: recurrent major depression in complete remission +synonym: "Major depressive disorder, recurrent episode, in full remission" EXACT [ICD9CM_2006:296.36] +synonym: "recurrent major depression in complete remission (disorder)" EXACT [SNOMEDCT_2005_07_31:46244001] +synonym: "recurrent major depressive episodes, in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191615005] +is_obsolete: true + +[Term] +id: DOID:11949 +name: Creutzfeldt-Jakob disease +comment: OMIM mapping confirmed by DO. [SN]. +subset: zoonotic_infectious_disease +synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [CSP2005:2042-5006] +synonym: "Creutzfeldt Jacob syndrome" EXACT [] +synonym: "Creutzfeldt Jakob disease" EXACT [] +synonym: "Creutzfeldt-Jacob disease" EXACT [NCI2004_11_17:C26802] +synonym: "Jakob-Creutzfeldt disease" EXACT [ICD9CM_2006:046.1] +synonym: "Subacute spongiform encephalopathy" EXACT [MTHICD9_2006:046.1] +synonym: "Transmissible virus dementia (disorder)" EXACT [SNOMEDCT_2005_07_31:79358009] +xref: EFO:0004226 +xref: ICD10CM:A81.0 +xref: ICD10CM:A81.00 +xref: ICD9CM:046.1 +xref: MSH:D007562 +xref: NCI:C26802 +xref: OMIM:123400 +xref: SNOMEDCT_US_2015_03_01:155061007 +xref: SNOMEDCT_US_2015_03_01:792004 +xref: SNOMEDCT_US_2015_03_01:79358009 +xref: UMLS_CUI:C0022336 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:1195 +name: ischemic neuropathy +synonym: "Ischemic Neuropathy" EXACT [NCI2004_11_17:C27025] +synonym: "Ischemic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:230599000] +synonym: "Ischemic peripheral neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:129611009] +xref: NCI:C27025 +xref: SNOMEDCT_US_2015_03_01:129611009 +xref: SNOMEDCT_US_2015_03_01:230599000 +xref: UMLS_CUI:C0238309 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:11950 +name: Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:11951 +alt_id: DOID:11953 +synonym: "antepartum congenital cardiovascular disorder of mother" EXACT [] +synonym: "postpartum congenital cardiovascular disorder of mother" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11952 +name: Congenital cardiovascular disorder of mother, with delivery +is_obsolete: true + +[Term] +id: DOID:11954 +name: psychosexual dysfunction with inhibited sexual excitement +synonym: "Psychosexual Dysfunction with Inhibited Sexual Excitement" EXACT [NCI2004_11_17:C34960] +is_obsolete: true + +[Term] +id: DOID:11955 +name: malnutrition of moderate degree +is_obsolete: true + +[Term] +id: DOID:11963 +name: esophagitis +alt_id: DOID:11962 +synonym: "acute esophagitis" EXACT [] +synonym: "acute esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:409656006] +xref: ICD10CM:K20 +xref: ICD10CM:K20.9 +xref: ICD9CM:530.1 +xref: ICD9CM:530.10 +xref: MSH:D004941 +xref: NCI:C9224 +xref: SNOMEDCT_US_2015_03_01:155673008 +xref: SNOMEDCT_US_2015_03_01:16761005 +xref: SNOMEDCT_US_2015_03_01:196605000 +xref: SNOMEDCT_US_2015_03_01:266498005 +xref: UMLS_CUI:C0014868 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:11964 +name: Histoplasma capsulatum retinitis +def: "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1945308] +synonym: "Histoplasma capsulatum with retinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187039009] +is_obsolete: true + +[Term] +id: DOID:11968 +name: postmenopausal atrophic vaginitis +synonym: "atrophic vaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:52441000] +synonym: "Senile vaginitis" EXACT [MTHICD9_2006:627.3] +xref: ICD10CM:N95.2 +xref: ICD9CM:627.3 +xref: SNOMEDCT_US_2015_03_01:156054004 +xref: SNOMEDCT_US_2015_03_01:52441000 +xref: UMLS_CUI:C0156409 +is_a: DOID:2170 ! vaginitis + +[Term] +id: DOID:11970 +name: symptomatic menopausal or female climacteric state +is_obsolete: true + +[Term] +id: DOID:11971 +name: synostosis +def: "A dysostosis that results_in abnormal fusing of adjacent bones." [url:http\://en.wikipedia.org/wiki/Synostosis, url:http\://medical-dictionary.thefreedictionary.com/synostosis] +xref: MSH:D013580 +xref: UMLS_CUI:C0039093 +is_a: DOID:1934 ! dysostosis + +[Term] +id: DOID:11975 +name: coloboma of optic nerve +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Coloboma of optic disc (disorder)" EXACT [SNOMEDCT_2005_07_31:17541006] +xref: ICD10CM:H47.31 +xref: ICD10CM:H47.319 +xref: ICD10CM:Q14.2 +xref: ICD9CM:377.23 +xref: MSH:C535970 +xref: OMIM:120430 +xref: SNOMEDCT_US_2015_03_01:155191004 +xref: SNOMEDCT_US_2015_03_01:17541006 +xref: SNOMEDCT_US_2015_03_01:194049000 +xref: SNOMEDCT_US_2015_03_01:204184001 +xref: SNOMEDCT_US_2015_03_01:267744000 +xref: SNOMEDCT_US_2015_03_01:44295002 +xref: UMLS_CUI:C0155299 +is_a: DOID:1393 ! visual pathway disease + +[Term] +id: DOID:11976 +name: botulism +def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." [url:http\://emedicine.medscape.com/article/325451-overview, url:http\://en.wikipedia.org/wiki/Botulism, url:http\://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html, url:http\://pathema.jcvi.org/pathema/botulinum_resources.shtml, url:http\://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf, url:http\://www.who.int/mediacentre/factsheets/fs270/en/] +subset: gram-positive_bacterial_infectious_disease +synonym: "Botulism poisoning" EXACT [] +synonym: "Food poisoning due to Clostridium botulinum" EXACT [MTHICD9_2006:005.1] +synonym: "Foodborne botulism" EXACT [SNOMEDCT_2005_07_31:398523009] +synonym: "Infection due to clostridium botulinum" EXACT [SNOMEDCT_2005_07_31:398565003] +synonym: "Intoxication with Clostridium botulinum toxin" EXACT [SNOMEDCT_2005_07_31:414531002] +xref: CSP:5000-0060 +xref: ICD10CM:A05.1 +xref: MSH:D001906 +xref: NCI:C84599 +xref: SNOMEDCT_US_2015_03_01:154276003 +xref: SNOMEDCT_US_2015_03_01:186110004 +xref: SNOMEDCT_US_2015_03_01:266177004 +xref: SNOMEDCT_US_2015_03_01:398523009 +xref: SNOMEDCT_US_2015_03_01:398530003 +xref: SNOMEDCT_US_2015_03_01:398565003 +xref: SNOMEDCT_US_2015_03_01:414531002 +xref: SNOMEDCT_US_2015_03_01:49248004 +xref: UMLS_CUI:C0006057 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:11977 +name: disorder of magnesium metabolism +synonym: "disorder of magnesium metabolism" EXACT [ICD9CM_2006:275.2] +synonym: "disorder of magnesium metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:60853003] +synonym: "disorder of magnesium metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190857007] +synonym: "Magnesium disorder" EXACT [SNOMEDCT_2005_07_31:154751003] +synonym: "Magnesium disorder" EXACT [SNOMEDCT_2005_07_31:267504005] +is_obsolete: true + +[Term] +id: DOID:11978 +name: chronic pyelonephritis without lesion of renal medullary necrosis +is_obsolete: true + +[Term] +id: DOID:11981 +name: morbid obesity +synonym: "Morbid Obesity" EXACT [NCI2004_11_17:C34858] +synonym: "Morbid obesity" EXACT [ICD9CM_2006:278.01] +synonym: "Morbid obesity" EXACT [SNOMEDCT_2005_07_31:389986000] +synonym: "Morbid obesity" EXACT [SNOMEDCT_2005_07_31:190967003] +synonym: "Morbid obesity (disorder)" EXACT [SNOMEDCT_2005_07_31:238136002] +synonym: "Severe obesity" EXACT [MTHICD9_2006:278.01] +xref: ICD9CM:278.01 +xref: MSH:D009767 +xref: NCI:C34858 +xref: SNOMEDCT_US_2015_03_01:190967003 +xref: SNOMEDCT_US_2015_03_01:238136002 +xref: SNOMEDCT_US_2015_03_01:389986000 +xref: UMLS_CUI:C0028756 +is_a: DOID:9970 ! obesity + +[Term] +id: DOID:11983 +name: Prader-Willi syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Prader Willi syndrome" EXACT [CSP2005:1849-7731] +xref: ICD10CM:Q87.1 +xref: ICD9CM:759.81 +xref: MSH:D011218 +xref: NCI:C75463 +xref: OMIM:176270 +xref: SNOMEDCT_US_2015_03_01:205794007 +xref: SNOMEDCT_US_2015_03_01:89392001 +xref: UMLS_CUI:C0032897 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:11984 +name: hypertrophic cardiomyopathy +alt_id: DOID:11986 +def: "An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." [url:http\://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, url:http\://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy, url:http\://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "familial hypertrophic cardiomyopathy" EXACT [] +synonym: "hypertrophic obstructive cardiomyopathy" EXACT [SNOMEDCT_2005_07_31:389999002] +xref: ICD10CM:I42.1 +xref: ICD9CM:425.1 +xref: ICD9CM:425.11 +xref: KEGG:05410 +xref: MSH:D002312 +xref: MSH:D024741 +xref: NCI:C34449 +xref: NCI:C84773 +xref: OMIM:115195 +xref: OMIM:115196 +xref: OMIM:115197 +xref: OMIM:192600 +xref: OMIM:600858 +xref: OMIM:608751 +xref: OMIM:608758 +xref: OMIM:612098 +xref: OMIM:612124 +xref: OMIM:613243 +xref: OMIM:613251 +xref: OMIM:613255 +xref: OMIM:613690 +xref: OMIM:613765 +xref: OMIM:613838 +xref: OMIM:613873 +xref: OMIM:613874 +xref: OMIM:613875 +xref: OMIM:613876 +xref: OMIM:614676 +xref: ORDO:155 +xref: SNOMEDCT_US_2015_03_01:15471000 +xref: SNOMEDCT_US_2015_03_01:155351008 +xref: SNOMEDCT_US_2015_03_01:233873004 +xref: SNOMEDCT_US_2015_03_01:266301006 +xref: SNOMEDCT_US_2015_03_01:389998005 +xref: SNOMEDCT_US_2015_03_01:389999002 +xref: SNOMEDCT_US_2015_03_01:45227007 +xref: SNOMEDCT_US_2015_03_01:83978005 +xref: UMLS_CUI:C0007194 +xref: UMLS_CUI:C0949658 +is_a: DOID:0060036 ! intrinsic cardiomyopathy + +[Term] +id: DOID:11987 +name: anorectal gonorrhea +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "gonococcal infectious disease of anus and rectum" EXACT [] +synonym: "gonococcal proctitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:11988 +name: conjunctival concretion +synonym: "Conjunctival concretion (disorder)" EXACT [SNOMEDCT_2005_07_31:13706005] +synonym: "Conjunctival concretions" EXACT [ICD9CM_2006:372.54] +xref: ICD10CM:H11.12 +xref: ICD9CM:372.54 +xref: SNOMEDCT_US_2015_03_01:13706005 +xref: UMLS_CUI:C0155162 +is_a: DOID:11653 ! conjunctival deposit + +[Term] +id: DOID:11990 +name: ulceroglandular tularemia +def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion." [url:http\://emedicine.medscape.com/article/230923-clinical, url:http\://www.cdc.gov/tularemia/signssymptoms/] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Ulceroglandular tularemia (disorder)" EXACT [SNOMEDCT_2005_07_31:37722001] +xref: ICD10CM:A21.0 +xref: ICD9CM:021.0 +xref: SNOMEDCT_US_2015_03_01:37722001 +xref: UMLS_CUI:C0152941 +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:11991 +name: osteopoikilosis +def: "An osteosclerosis that results_in numerous bone islands located_in skeleton." [url:http\://en.wikipedia.org/wiki/Osteopoikilosis, url:http\://www.bonetumor.org/unknown-tumor-type-bone/osteopoikilosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteopoikilosis.aspx] +xref: ICD10CM:Q78.8 +xref: ICD9CM:756.53 +xref: MSH:D010023 +xref: NCI:C84985 +xref: SNOMEDCT_US_2015_03_01:9147009 +xref: UMLS_CUI:C0029455 +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:11994 +name: atrophy of testis +synonym: "Atrophy of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:17585008] +xref: ICD10CM:N50.0 +xref: ICD9CM:608.3 +xref: SNOMEDCT_US_2015_03_01:155938008 +xref: SNOMEDCT_US_2015_03_01:17585008 +xref: SNOMEDCT_US_2015_03_01:249242001 +xref: UMLS_CUI:C0156312 +is_a: DOID:2519 ! testicular disease + +[Term] +id: DOID:11996 +name: spermatic cord torsion +synonym: "testicular Torsion" EXACT [NCI2004_11_17:C26885] +synonym: "Torsion of spermatic cord" EXACT [SNOMEDCT_2005_07_31:198046000] +synonym: "Torsion of spermatic cord (disorder)" EXACT [SNOMEDCT_2005_07_31:49198006] +synonym: "Torsion of testicle" EXACT [MTHICD9_2006:608.2] +synonym: "Torsion of testis" EXACT [SNOMEDCT_2005_07_31:155937003] +synonym: "Torsion of testis" EXACT [ICD9CM_2006:608.2] +synonym: "Torsion of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:81996005] +synonym: "Torsion of testis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198048004] +synonym: "Torsion of testis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198045001] +xref: ICD10CM:N44.0 +xref: ICD10CM:N44.00 +xref: ICD10CM:N44.02 +xref: ICD9CM:608.2 +xref: ICD9CM:608.20 +xref: MSH:D013086 +xref: NCI:C26885 +xref: OMIM:187400 +xref: SNOMEDCT_US_2015_03_01:155937003 +xref: SNOMEDCT_US_2015_03_01:198045001 +xref: SNOMEDCT_US_2015_03_01:198046000 +xref: SNOMEDCT_US_2015_03_01:198048004 +xref: SNOMEDCT_US_2015_03_01:49198006 +xref: SNOMEDCT_US_2015_03_01:81996005 +xref: UMLS_CUI:C0037856 +is_a: DOID:2519 ! testicular disease + +[Term] +id: DOID:11997 +name: spermatocele +synonym: "Spermatocele (disorder)" EXACT [SNOMEDCT_2005_07_31:49263001] +xref: ICD10CM:N43.4 +xref: ICD10CM:N43.40 +xref: ICD10CM:N50.3 +xref: ICD9CM:608.1 +xref: MSH:D013088 +xref: NCI:C3865 +xref: SNOMEDCT_US_2015_03_01:155936007 +xref: SNOMEDCT_US_2015_03_01:155941004 +xref: SNOMEDCT_US_2015_03_01:43077002 +xref: SNOMEDCT_US_2015_03_01:49263001 +xref: UMLS_CUI:C0037859 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:120 +name: female reproductive organ cancer +alt_id: DOID:1244 +alt_id: DOID:1281 +def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva." [url:http\://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] +synonym: "female reproductive cancer" EXACT [] +synonym: "malignant Gynecologic tumor" EXACT [NCI2004_11_17:C4913] +synonym: "malignant neoplasm of female genital organ" EXACT [] +xref: ICD10CM:C57 +xref: ICD9CM:184 +xref: MSH:D005833 +xref: NCI:C3053 +xref: NCI:C4913 +xref: SNOMEDCT_US_2015_03_01:126907002 +xref: SNOMEDCT_US_2015_03_01:188207007 +xref: UMLS_CUI:C0017416 +xref: UMLS_CUI:C0153585 +xref: UMLS_CUI:C0699889 +is_a: DOID:193 ! reproductive organ cancer + +[Term] +id: DOID:12000 +name: secondary malignant neoplasm of trachea +synonym: "metastatic tumor to the Trachea" EXACT [NCI2004_11_17:C4887] +synonym: "secondary malignant neoplasm of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:94641004] +is_obsolete: true + +[Term] +id: DOID:12001 +name: tracheal lymphoma +synonym: "lymphoma of the trachea" EXACT [] +synonym: "Lymphoma of Trachea" EXACT [NCI2004_11_17:C6248] +xref: NCI:C6248 +xref: UMLS_CUI:C1336773 +is_a: DOID:11920 ! tracheal cancer + +[Term] +id: DOID:12002 +name: trachea sarcoma +def: "A sarcoma and malignant tumor of trachea that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer] +synonym: "sarcoma of the trachea" EXACT [NCI2004_11_17:C6050] +xref: NCI:C6050 +xref: UMLS_CUI:C1336774 +is_a: DOID:11920 ! tracheal cancer + +[Term] +id: DOID:12003 +name: trachea squamous cell carcinoma +synonym: "squamous cell carcinoma of trachea" RELATED [] +synonym: "squamous cell carcinoma of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:254620000] +synonym: "Tracheal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4448] +xref: NCI:C4448 +xref: SNOMEDCT_US_2015_03_01:254620000 +xref: UMLS_CUI:C0345946 +is_a: DOID:4876 ! trachea carcinoma + +[Term] +id: DOID:1201 +name: trigeminal nerve neoplasm +synonym: "neoplasm of trigeminal nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126971002] +synonym: "tumor of Trigeminal nerve" EXACT [NCI2004_11_17:C5122] +xref: NCI:C5122 +xref: SNOMEDCT_US_2015_03_01:126971002 +xref: UMLS_CUI:C1263897 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:12010 +name: anterior ischemic optic neuropathy +synonym: "Ischemic optic neuropathy" EXACT [ICD9CM_2006:377.41] +xref: ICD10CM:H47.01 +xref: ICD9CM:377.41 +xref: MSH:D018917 +xref: SNOMEDCT_US_2015_03_01:14357004 +xref: UMLS_CUI:C0155305 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:12016 +name: frontal lobe neoplasm +alt_id: DOID:12015 +synonym: "malignant neoplasm of frontal lobe" EXACT [ICD9CM_2006:191.1, SNOMEDCT_2005_07_31:93807001] +synonym: "malignant neoplasm of frontal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:363467004] +synonym: "neoplasm of frontal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:126954003] +synonym: "tumor of Frontal Lobe" EXACT [NCI2004_11_17:C5572] +xref: ICD10CM:C71.1 +xref: ICD9CM:191.1 +xref: NCI:C5572 +xref: SNOMEDCT_US_2015_03_01:126954003 +xref: SNOMEDCT_US_2015_03_01:363467004 +xref: SNOMEDCT_US_2015_03_01:93807001 +xref: UMLS_CUI:C0153635 +xref: UMLS_CUI:C1263886 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:12017 +name: group B streptococcal pneumonia +def: "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly." [url:http\://en.wikipedia.org/wiki/Streptococcus#Group_B, url:http\://www.ncbi.nlm.nih.gov/pubmed/11462195] +subset: gram-positive_bacterial_infectious_disease +synonym: "Group B" EXACT [ICD9CM_2006:482.32] +synonym: "Group B streptococcal pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:195886008] +synonym: "Pneumonia due to Streptococcus Group B" EXACT [MTHICD9_2006:482.32] +is_obsolete: true + +[Term] +id: DOID:12019 +name: group A streptococcal pneumonia +def: "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false] +subset: gram-positive_bacterial_infectious_disease +synonym: "pneumonia due to streptococcus group A" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12020 +name: malignant neoplasm of corpus uteri, except isthmus +synonym: "malignant neoplasm of corpus uteri, excluding isthmus (disorder)" EXACT [SNOMEDCT_2005_07_31:188189001] +is_obsolete: true + +[Term] +id: DOID:12021 +name: leukemic reticuloendotheliosis of intrathoracic lymph nodes +synonym: "Leukemic reticuloendotheliosis involving intrathoracic lymph nodes" EXACT [ICD9CM_2006:202.42] +synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93146001] +synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188646001] +is_obsolete: true + +[Term] +id: DOID:12022 +name: spontaneous abortion complicated by genital tract and pelvic infectious disease +synonym: "spontaneous abortion, unspecified, complicated by genital tract and pelvic infection" EXACT [ICD9CM_2006:634.00] +is_obsolete: true + +[Term] +id: DOID:12028 +name: Conn's syndrome +def: "An adrenal admenoma characterized by over production of aldosterone." [url:http\://en.wikipedia.org/wiki/Conn%27s_syndrome] +synonym: "Conn syndrome" EXACT [] +synonym: "primary aldosteronism" EXACT [ICD9CM_2006:255.10] +synonym: "primary hyperaldosteronism" EXACT [NCI2004_11_17:C34510] +xref: ICD10CM:E26.0 +xref: ICD10CM:E26.01 +xref: ICD9CM:255.12 +xref: MSH:D006929 +xref: NCI:C34510 +xref: SNOMEDCT_US_2015_03_01:13536004 +xref: SNOMEDCT_US_2015_03_01:154709005 +xref: SNOMEDCT_US_2015_03_01:190506003 +xref: SNOMEDCT_US_2015_03_01:190507007 +xref: SNOMEDCT_US_2015_03_01:258117004 +xref: SNOMEDCT_US_2015_03_01:267484005 +xref: UMLS_CUI:C1384514 +is_a: DOID:656 ! adrenal adenoma + +[Term] +id: DOID:12029 +name: sympathetic ophthalmia +synonym: "Sympathetic uveitis" EXACT [ICD9CM_2006:360.11] +synonym: "Sympathetic uveitis (disorder)" EXACT [SNOMEDCT_2005_07_31:75315001] +xref: ICD10CM:H44.13 +xref: ICD9CM:360.11 +xref: MSH:D009879 +xref: SNOMEDCT_US_2015_03_01:75315001 +xref: UMLS_CUI:C0029077 +is_a: DOID:12030 ! panuveitis +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:1203 +name: drug-induced mental disorder +xref: ICD9CM:292.8 +xref: ICD9CM:292.89 +xref: UMLS_CUI:C0154325 +is_a: DOID:8646 ! substance-induced psychosis + +[Term] +id: DOID:12030 +name: panuveitis +synonym: "Diffuse uveitis" EXACT [SNOMEDCT_2005_07_31:75614007] +xref: ICD10CM:H44.11 +xref: ICD9CM:360.12 +xref: MSH:D015864 +xref: NCI:C84989 +xref: SNOMEDCT_US_2015_03_01:75614007 +xref: UMLS_CUI:C0030343 +is_a: DOID:13141 ! uveitis + +[Term] +id: DOID:1204 +name: arthropathy due to hypersensitivity reaction +synonym: "Arthropathy associated with a hypersensitivity reaction (disorder)" EXACT [SNOMEDCT_2005_07_31:53338001] +synonym: "Arthropathy associated with hypersensitivity reaction" EXACT [ICD9CM_2006:713.6] +is_obsolete: true + +[Term] +id: DOID:12040 +name: immune hydrops fetalis +synonym: "Hydrops fetalis - due to isoim" EXACT [SNOMEDCT_2005_07_31:157134005] +synonym: "Hydrops fetalis - due to isoim" EXACT [SNOMEDCT_2005_07_31:268879006] +synonym: "Hydrops fetalis due to isoimmunization" EXACT [ICD9CM_2006:773.3] +synonym: "Hydrops fetalis due to isoimmunization (disorder)" EXACT [SNOMEDCT_2005_07_31:15539009] +synonym: "Hydrops fetalis due to isoimmunization [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:206432002] +is_obsolete: true + +[Term] +id: DOID:12043 +name: kernicterus due to isoimmunization +synonym: "Kernicterus - due to isoimm." EXACT [SNOMEDCT_2005_07_31:157135006] +synonym: "Kernicterus - due to isoimm." EXACT [SNOMEDCT_2005_07_31:268880009] +synonym: "Kernicterus due to isoimmunization (disorder)" EXACT [SNOMEDCT_2005_07_31:359007] +synonym: "Kernicterus due to isoimmunization [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:206433007] +synonym: "Kernicterus due to isoimmunization of fetus or newborn" EXACT [ICD9CM_2006:773.4] +xref: ICD10CM:P57.0 +xref: ICD9CM:773.4 +xref: NCI:C101270 +xref: SNOMEDCT_US_2015_03_01:157135006 +xref: SNOMEDCT_US_2015_03_01:206433007 +xref: SNOMEDCT_US_2015_03_01:268880009 +xref: SNOMEDCT_US_2015_03_01:359007 +xref: UMLS_CUI:C0270204 +is_a: DOID:11244 ! neonatal anemia +is_a: DOID:2383 ! neonatal jaundice + +[Term] +id: DOID:1205 +name: hypersensitivity reaction type I disease +def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy] +synonym: "allergy" EXACT [] +synonym: "hypersensitivity" EXACT [] +xref: ICD10CM:T78.40 +xref: MSH:D006967 +xref: NCI:C3114 +xref: SNOMEDCT_US_2015_03_01:106190000 +xref: SNOMEDCT_US_2015_03_01:127072000 +xref: SNOMEDCT_US_2015_03_01:157754004 +xref: SNOMEDCT_US_2015_03_01:157758001 +xref: SNOMEDCT_US_2015_03_01:212998004 +xref: SNOMEDCT_US_2015_03_01:212999007 +xref: SNOMEDCT_US_2015_03_01:21957007 +xref: SNOMEDCT_US_2015_03_01:257550005 +xref: SNOMEDCT_US_2015_03_01:269284003 +xref: SNOMEDCT_US_2015_03_01:269432007 +xref: SNOMEDCT_US_2015_03_01:274211000 +xref: SNOMEDCT_US_2015_03_01:282092005 +xref: SNOMEDCT_US_2015_03_01:418168000 +xref: SNOMEDCT_US_2015_03_01:418634005 +xref: SNOMEDCT_US_2015_03_01:418925002 +xref: SNOMEDCT_US_2015_03_01:421668005 +xref: SNOMEDCT_US_2015_03_01:421961002 +xref: SNOMEDCT_US_2015_03_01:91232002 +xref: UMLS_CUI:C0020517 +is_a: DOID:0060056 ! hypersensitivity reaction disease + +[Term] +id: DOID:12052 +name: cryptococcal meningitis +def: "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +synonym: "Cryptococcal meningitis" EXACT [ICD9CM_2006:321.0] +synonym: "Cryptococcal meningitis" EXACT [SNOMEDCT_2005_07_31:187092002] +synonym: "Cryptococcal meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:14232007] +is_obsolete: true + +[Term] +id: DOID:12053 +name: cryptococcosis +def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." [url:http\://en.wikipedia.org/wiki/Cryptococcosis] +synonym: "Busse-Buschke's disease" EXACT [SNOMEDCT_2005_07_31:20850004] +synonym: "cryptococcal infection" EXACT [] +synonym: "cryptococcus neoformans infection" RELATED [] +synonym: "European cryptococcosis" EXACT [MTHICD9_2006:117.5] +synonym: "torula" EXACT [CSP2005:1198-5059] +synonym: "torulosis" EXACT [CSP2005:1988-4587] +xref: ICD10CM:B45 +xref: ICD10CM:B45.9 +xref: ICD9CM:117.5 +xref: MSH:D003453 +xref: NCI:C2967 +xref: SNOMEDCT_US_2015_03_01:187090005 +xref: SNOMEDCT_US_2015_03_01:187097008 +xref: SNOMEDCT_US_2015_03_01:187494009 +xref: SNOMEDCT_US_2015_03_01:20850004 +xref: SNOMEDCT_US_2015_03_01:42386007 +xref: UMLS_CUI:C0010414 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:12054 +name: Trypanosoma meningitis +def: "A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species." [url:http\://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract] +subset: zoonotic_infectious_disease +synonym: "Meningitis due to trypanosomiasis" EXACT [ICD9CM_2006:321.3] +synonym: "trypanosomiasis with meningitis" EXACT [] +synonym: "Trypanosomiasis with meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:5566009] +is_obsolete: true + +[Term] +id: DOID:12055 +name: sarcoid meningitis +synonym: "Meningitis in sarcoidosis" EXACT [ICD9CM_2006:321.4] +synonym: "Sarcoid meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192673008] +xref: ICD10CM:D86.81 +xref: ICD9CM:321.4 +xref: SNOMEDCT_US_2015_03_01:192673008 +xref: UMLS_CUI:C0154648 +is_a: DOID:11335 ! sarcoidosis +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:12056 +name: meningitis with clear cerebrospinal fluid +synonym: "Non-pyogenic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192679007] +synonym: "Nonpyogenic meningitis" EXACT [ICD9CM_2006:322.0] +synonym: "Nonpyogenic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:21468000] +is_obsolete: true + +[Term] +id: DOID:12058 +name: Fetal-maternal hemorrhage affecting management of mother +alt_id: DOID:12059 +synonym: "Fetal-maternal hemorrhage, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1206 +name: Rett syndrome +def: "A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." [url:http\://www.nichd.nih.gov/health/topics/rett_syndrome.cfm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cerebroatrophic hyperammonemia" EXACT [CSP2005:4001-0114] +synonym: "Rett's disorder" EXACT [SNOMEDCT_2005_07_31:68618008] +xref: ICD10CM:F84.2 +xref: MSH:D015518 +xref: NCI:C75488 +xref: OMIM:312750 +xref: OMIM:613454 +xref: SNOMEDCT_US_2015_03_01:192583003 +xref: SNOMEDCT_US_2015_03_01:68618008 +xref: UMLS_CUI:C0035372 +is_a: DOID:0060040 ! pervasive developmental disorder + +[Term] +id: DOID:12061 +name: fetal blood loss +synonym: "Fetal blood loss (disorder)" EXACT [SNOMEDCT_2005_07_31:206390008] +synonym: "Fetal blood loss NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206394004] +synonym: "Fetal blood loss, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:206391007] +synonym: "Fetal haemorrhage" EXACT [SNOMEDCT_2005_07_31:268877008] +synonym: "Fetal haemorrhage" EXACT [SNOMEDCT_2005_07_31:157124001] +is_obsolete: true + +[Term] +id: DOID:12064 +name: mediastinum neurofibroma +synonym: "Neurofibroma of mediastinum" EXACT [NCI2004_11_17:C6631] +xref: NCI:C6631 +xref: UMLS_CUI:C1334674 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm + +[Term] +id: DOID:12065 +name: ganglioneuroma of the mediastinum +synonym: "Ganglioneuroma of mediastinum" EXACT [NCI2004_11_17:C6632] +is_obsolete: true + +[Term] +id: DOID:12070 +name: Dieulafoy lesion +alt_id: DOID:11791 +synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [] +synonym: "dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [] +xref: ICD10CM:K31.82 +xref: ICD9CM:537.84 +xref: UMLS_CUI:C1135229 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:12072 +name: pylorospasm +synonym: "Pylorospasm (disorder)" EXACT [SNOMEDCT_2005_07_31:335002] +xref: ICD9CM:537.81 +xref: SNOMEDCT_US_2015_03_01:335002 +xref: UMLS_CUI:C0152163 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:12076 +name: interstitial emphysema and related conditions of newborn +is_obsolete: true + +[Term] +id: DOID:12084 +name: transient arthropathy +alt_id: DOID:10502 +alt_id: DOID:11494 +alt_id: DOID:12080 +alt_id: DOID:12081 +alt_id: DOID:12083 +alt_id: DOID:2091 +alt_id: DOID:9424 +synonym: "Transient arthropathy involving forearm" EXACT [] +synonym: "Transient arthropathy involving hand" EXACT [] +synonym: "Transient arthropathy involving lower leg" EXACT [] +synonym: "Transient arthropathy involving multiple sites" EXACT [] +synonym: "Transient arthropathy involving pelvic region and thigh" EXACT [] +synonym: "Transient arthropathy involving shoulder region" EXACT [] +synonym: "Transient arthropathy involving upper arm" EXACT [] +xref: ICD9CM:716.41 +xref: UMLS_CUI:C0158007 +is_a: DOID:2092 ! transient arthritis + +[Term] +id: DOID:12087 +name: deep corneal vascularisation +synonym: "Deep vascularization of cornea" EXACT [ICD9CM_2006:370.63] +synonym: "Deep vascularization of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:2102007] +xref: ICD10CM:H16.44 +xref: ICD9CM:370.63 +xref: SNOMEDCT_US_2015_03_01:2102007 +xref: UMLS_CUI:C0155095 +is_a: DOID:11382 ! corneal neovascularization + +[Term] +id: DOID:1209 +name: nutritional optic neuropathy +synonym: "Nutritional optic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:82108004] +xref: ICD10CM:H46.2 +xref: ICD9CM:377.33 +xref: SNOMEDCT_US_2015_03_01:82108004 +xref: UMLS_CUI:C0155302 +is_a: DOID:1210 ! optic neuritis + +[Term] +id: DOID:12091 +name: vitamin A deficiency with corneal xerosis +synonym: "vitamin A deficiency with corneal xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:35516008] +is_obsolete: true + +[Term] +id: DOID:12092 +name: Galactorrhea associated with childbirth +is_obsolete: true + +[Term] +id: DOID:12096 +name: sodoku disease +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain." [url:http\://en.wikipedia.org/wiki/Rat_bite_fever, url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Spirillary fever" EXACT [ICD9CM_2006:026.0] +synonym: "Spirillosis" RELATED [] +xref: ICD10CM:A25.0 +xref: ICD9CM:026.0 +xref: MSH:D011906 +xref: SNOMEDCT_US_2015_03_01:19044004 +xref: UMLS_CUI:C0152062 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:12097 +name: rat-bite fever +subset: zoonotic_infectious_disease +synonym: "Rat bite fever (disorder)" EXACT [SNOMEDCT_2005_07_31:1685005] +synonym: "Rat-bite fever" EXACT [ICD9CM_2006:026] +synonym: "Rat-bite fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186313008] +synonym: "Rat-bite fever, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187307007] +synonym: "Unspecified rat-bite fever" EXACT [ICD9CM_2006:026.9] +is_obsolete: true + +[Term] +id: DOID:12098 +name: trigeminal neuralgia +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Trifacial neuralgia" EXACT [MTHICD9_2006:350.1] +synonym: "trifocal neuralgia" EXACT [CSP2005:2042-6701] +synonym: "Trigeminal neuralgia" EXACT [ICD9CM_2006:350.1] +synonym: "Trigeminal neuralgia" EXACT [SNOMEDCT_2005_07_31:155066002] +synonym: "Trigeminal neuralgia (disorder)" EXACT [SNOMEDCT_2005_07_31:31681005] +synonym: "Trigeminal neuralgia [no drugs here] (disorder)" EXACT [SNOMEDCT_2005_07_31:322769008] +synonym: "Trigeminal neuralgia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193090007] +xref: ICD10CM:G50.0 +xref: ICD9CM:350.1 +xref: MSH:D014277 +xref: OMIM:190400 +xref: SNOMEDCT_US_2015_03_01:155066002 +xref: SNOMEDCT_US_2015_03_01:193090007 +xref: SNOMEDCT_US_2015_03_01:31681005 +xref: SNOMEDCT_US_2015_03_01:322769008 +xref: UMLS_CUI:C0040997 +is_a: DOID:561 ! trigeminal nerve disease + +[Term] +id: DOID:121 +name: vaginal disease +synonym: "disorder of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:25658005] +synonym: "vagina disorder" EXACT [CSP2005:2587-6329] +synonym: "vaginal disorder" EXACT [NCI2004_11_17:C26910] +synonym: "vaginal disorder NOS" EXACT [SNOMEDCT_2005_07_31:156015000] +synonym: "vaginal disorder NOS" EXACT [SNOMEDCT_2005_07_31:156018003] +synonym: "vaginal disorder NOS" EXACT [SNOMEDCT_2005_07_31:266665005] +synonym: "vaginal disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:286989007] +xref: MSH:D014623 +xref: NCI:C26910 +xref: SNOMEDCT_US_2015_03_01:156015000 +xref: SNOMEDCT_US_2015_03_01:156018003 +xref: SNOMEDCT_US_2015_03_01:25658005 +xref: SNOMEDCT_US_2015_03_01:266665005 +xref: SNOMEDCT_US_2015_03_01:286989007 +xref: UMLS_CUI:C0042251 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:1210 +name: optic neuritis +def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." [sn:IEDB] +xref: ICD10CM:H46 +xref: ICD10CM:H46.9 +xref: ICD9CM:377.3 +xref: ICD9CM:377.30 +xref: MSH:D009902 +xref: NCI:C84950 +xref: SNOMEDCT_US_2015_03_01:155189007 +xref: SNOMEDCT_US_2015_03_01:194051001 +xref: SNOMEDCT_US_2015_03_01:194052008 +xref: SNOMEDCT_US_2015_03_01:194054009 +xref: SNOMEDCT_US_2015_03_01:267743006 +xref: SNOMEDCT_US_2015_03_01:66760008 +xref: UMLS_CUI:C0029134 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:12104 +name: vitamin A deficiency with corneal xerosis and ulcer +synonym: "vitamin A deficiency with corneal ulceration and xerosis" EXACT [ICD9CM_2006:264.3] +synonym: "vitamin A deficiency with corneal ulceration AND xerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:90653005] +synonym: "vitamin A deficiency with corneal xerosis and ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:190612001] +is_obsolete: true + +[Term] +id: DOID:12105 +name: inflammatory spondylopathy +synonym: "Inflammatory spondylopathies in disease classified elsewhere" EXACT [ICD9CM_2006:720.81] +synonym: "Inflammatory spondylopathies in disease EC (disorder)" EXACT [SNOMEDCT_2005_07_31:202652006] +synonym: "Inflammatory spondylopathy in disease classified elsewhere" EXACT [SNOMEDCT_2005_07_31:6963001] +xref: ICD9CM:720.81 +xref: SNOMEDCT_US_2015_03_01:202652006 +xref: SNOMEDCT_US_2015_03_01:6963001 +xref: UMLS_CUI:C0021396 +is_a: DOID:6590 ! spondylitis + +[Term] +id: DOID:12106 +name: tricuspid valve syphilitic endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic endocarditis of tricuspid valve (disorder)" EXACT [SNOMEDCT_2005_07_31:186877007] +is_obsolete: true + +[Term] +id: DOID:12107 +name: primary retinal cyst +synonym: "primary retinal cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:28157000] +synonym: "primary retinal cysts" EXACT [ICD9CM_2006:361.13] +is_obsolete: true + +[Term] +id: DOID:12108 +name: bullous retinoschisis +synonym: "Bullous retinoschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:65545003] +xref: ICD9CM:361.12 +xref: SNOMEDCT_US_2015_03_01:65545003 +xref: UMLS_CUI:C0344289 +is_a: DOID:8465 ! retinoschisis + +[Term] +id: DOID:12111 +name: vitamin A deficiency with xerophthalmic corneal scar +synonym: "vitamin A deficiency with xerophthalmic corneal scars (disorder)" EXACT [SNOMEDCT_2005_07_31:190615004] +synonym: "vitamin A deficiency with xerophthalmic scars of cornea" EXACT [ICD9CM_2006:264.6] +synonym: "vitamin A deficiency with xerophthalmic scars of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:4715007] +is_obsolete: true + +[Term] +id: DOID:12113 +name: nerve deafness +synonym: "nerve conduction deafness" EXACT [SNOMEDCT_2005_07_31:80695003] +synonym: "neural hearing loss" EXACT [MTH:NOCODE] +synonym: "neural hearing loss" EXACT [ICD9CM_2006:389.12] +synonym: "neural hearing loss (finding)" EXACT [SNOMEDCT_2005_07_31:73371001] +is_obsolete: true + +[Term] +id: DOID:12115 +name: streptococcal pharyngitis +def: "A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000639.htm] +subset: gram-positive_bacterial_infectious_disease +synonym: "Septic sore throat due to streptococcal infection" EXACT [MTHICD9_2006:034.0] +synonym: "Strept throat" EXACT [SNOMEDCT_2005_07_31:43878008] +synonym: "Streptococcal angina" EXACT [SNOMEDCT_2005_07_31:186358002] +synonym: "Streptococcal sore throat" EXACT [ICD9CM_2006:034.0] +synonym: "Streptococcal sore throat" EXACT [SNOMEDCT_2005_07_31:154302004] +synonym: "Streptococcal sore throat NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186361001] +is_obsolete: true + +[Term] +id: DOID:12117 +name: pulmonary alveolar microlithiasis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "pulmonary alveolar microlithiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:87153008] +xref: ICD10CM:J84.02 +xref: ICD9CM:516.2 +xref: MSH:C562405 +xref: OMIM:265100 +xref: SNOMEDCT_US_2015_03_01:196160008 +xref: SNOMEDCT_US_2015_03_01:87153008 +xref: UMLS_CUI:C0155912 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:12118 +name: pulmonary hemosiderosis +alt_id: DOID:0050330 +def: "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h." [url:http\://en.wikipedia.org/wiki/Brown_induration, url:http\://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis, url:http\://www.erj.ersjournals.com/cgi/content/full/24/1/162] +synonym: "brown induration" EXACT [] +synonym: "brown lung" EXACT [CSP2005:2596-2097] +synonym: "Idiopathic pulmonary hemosiderosis" EXACT [ICD9CM_2006:516.1] +xref: ICD10CM:J84.03 +xref: ICD9CM:516.1 +xref: MSH:C536281 +xref: OMIM:178550 +xref: OMIM:235500 +xref: ORDO:99931 +xref: SNOMEDCT_US_2015_03_01:190848001 +xref: SNOMEDCT_US_2015_03_01:40527005 +xref: UMLS_CUI:C0020807 +is_a: DOID:12119 ! hemosiderosis + +[Term] +id: DOID:12119 +name: hemosiderosis +def: "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload." [url:http\://en.wikipedia.org/wiki/Hemosiderosis] +synonym: "haemosiderosis " EXACT [] +xref: MSH:D006486 +xref: NCI:C82892 +xref: SNOMEDCT_US_2015_03_01:190849009 +xref: SNOMEDCT_US_2015_03_01:39011001 +xref: UMLS_CUI:C0019114 +is_a: DOID:2351 ! iron metabolism disease + +[Term] +id: DOID:12120 +name: pulmonary alveolar proteinosis +def: "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange." [url:http\://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:J84.01 +xref: ICD9CM:516.0 +xref: MSH:D011649 +xref: NCI:C85037 +xref: OMIM:265120 +xref: OMIM:300770 +xref: OMIM:610913 +xref: OMIM:610921 +xref: OMIM:614370 +xref: ORDO:264675 +xref: SNOMEDCT_US_2015_03_01:10501004 +xref: UMLS_CUI:C0034050 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:12121 +name: secondary syphilitic periostitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilitic periostitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69595007] +is_obsolete: true + +[Term] +id: DOID:12123 +name: postinflammatory pulmonary fibrosis +synonym: "Post-inflammatory pulmonary fibrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:266368002] +synonym: "Postinflammatory pulmonary fibrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:57124002] +xref: ICD10CM:J84.10 +xref: ICD9CM:515 +xref: SNOMEDCT_US_2015_03_01:196121006 +xref: SNOMEDCT_US_2015_03_01:266368002 +xref: SNOMEDCT_US_2015_03_01:57124002 +xref: UMLS_CUI:C0175999 +is_a: DOID:3770 ! pulmonary fibrosis + +[Term] +id: DOID:12124 +name: episcleritis periodica fugax +synonym: "Episcleritis periodica fugax (disorder)" EXACT [SNOMEDCT_2005_07_31:31166000] +xref: ICD10CM:H15.11 +xref: ICD9CM:379.01 +xref: SNOMEDCT_US_2015_03_01:194141004 +xref: SNOMEDCT_US_2015_03_01:31166000 +xref: UMLS_CUI:C0155351 +is_a: DOID:11343 ! scleral disease + +[Term] +id: DOID:12125 +name: neurotrophic keratoconjunctivitis +synonym: "Neurotrophic keratoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:77080005] +xref: ICD10CM:H16.23 +xref: ICD9CM:370.35 +xref: SNOMEDCT_US_2015_03_01:193777005 +xref: SNOMEDCT_US_2015_03_01:77080005 +xref: UMLS_CUI:C0155084 +is_a: DOID:9368 ! keratoconjunctivitis + +[Term] +id: DOID:12128 +name: pica disease +def: "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients." [url:http\://en.wikipedia.org/wiki/Pica_%28disorder%29] +xref: ICD9CM:307.52 +xref: MSH:D010842 +xref: NCI:C92566 +xref: SNOMEDCT_US_2015_03_01:14077003 +xref: SNOMEDCT_US_2015_03_01:154938001 +xref: SNOMEDCT_US_2015_03_01:268779001 +xref: UMLS_CUI:C0031873 +is_a: DOID:8670 ! eating disorder + +[Term] +id: DOID:12129 +name: bulimia nervosa +def: "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem." [url:http\://en.wikipedia.org/wiki/Bulimia_nervosa] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "hyperorexia nervosa" EXACT [SNOMEDCT_2005_07_31:192447005] +xref: ICD10CM:F50.2 +xref: MSH:D002032 +xref: NCI:C34440 +xref: OMIM:607499 +xref: OMIM:610269 +xref: SNOMEDCT_US_2015_03_01:192013000 +xref: SNOMEDCT_US_2015_03_01:192447005 +xref: SNOMEDCT_US_2015_03_01:206939001 +xref: SNOMEDCT_US_2015_03_01:78004001 +xref: UMLS_CUI:C0006370 +is_a: DOID:8670 ! eating disorder + +[Term] +id: DOID:1213 +name: Tympanosclerosis of tympanic membrane and ossicles +synonym: "Tympanosclerosis involving tympanic membrane and ear ossicles" EXACT [ICD9CM_2006:385.02] +synonym: "Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)" EXACT [SNOMEDCT_2005_07_31:35100001] +is_obsolete: true + +[Term] +id: DOID:12132 +name: Wegener's granulomatosis +def: "An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels." [url:http\://en.wikipedia.org/wiki/Wegener%27s_granulomatosis] +synonym: "Granulomatosis - Wegener's" EXACT [SNOMEDCT_2005_07_31:266323005] +synonym: "Necrotizing respiratory granulomatosis" EXACT [MTHICD9_2006:446.4] +synonym: "Wegener granulomatosis" EXACT [] +synonym: "Wegener's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:239934006] +xref: ICD10CM:M31.3 +xref: ICD10CM:M31.30 +xref: ICD9CM:446.4 +xref: MSH:D014890 +xref: NCI:C3444 +xref: OMIM:608710 +xref: SNOMEDCT_US_2015_03_01:155445002 +xref: SNOMEDCT_US_2015_03_01:195353004 +xref: SNOMEDCT_US_2015_03_01:23782005 +xref: SNOMEDCT_US_2015_03_01:239934006 +xref: SNOMEDCT_US_2015_03_01:266323005 +xref: SNOMEDCT_US_2015_03_01:390001000 +xref: UMLS_CUI:C0043092 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:12133 +name: Yersinia enterocolitica intestinal infectious disease +def: "A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children)." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Infection by Yersinia enterocolitica (disorder)" EXACT [SNOMEDCT_2005_07_31:80960004] +synonym: "infectious disease by Yersinia enterocolitica" EXACT [] +synonym: "intestinal infection due to yersinia enterocolitica" EXACT [ICD9CM_2006:008.44] +synonym: "Yersinia enterocolitis" EXACT [SNOMEDCT_2005_07_31:186144006] +is_obsolete: true + +[Term] +id: DOID:12134 +name: factor VIII deficiency +def: "An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Hemophilia_A] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital factor VIII disorder" EXACT [ICD9CM_2006:286.0] +synonym: "Hemophilia A (disorder)" EXACT [SNOMEDCT_2005_07_31:28293008] +synonym: "Subhemophilia" EXACT [MTHICD9_2006:286.0] +xref: ICD10CM:D66 +xref: ICD9CM:286.0 +xref: MSH:D006467 +xref: NCI:C27146 +xref: OMIM:134500 +xref: SNOMEDCT_US_2015_03_01:234440005 +xref: SNOMEDCT_US_2015_03_01:28293008 +xref: UMLS_CUI:C0019069 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:12135 +name: acquired factor VIII deficiency +synonym: "acquired factor VIII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:14230004] +is_obsolete: true + +[Term] +id: DOID:12136 +name: acquired coagulation factor deficiency +synonym: "acquired coagulation factor deficiency" EXACT [ICD9CM_2006:286.7] +synonym: "acquired coagulation factor deficiency" EXACT [SNOMEDCT_2005_07_31:191295001] +synonym: "acquired coagulation factor deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:25904003] +synonym: "acquired coagulation factor deficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191300004] +is_obsolete: true + +[Term] +id: DOID:12139 +name: dysthymic disorder +def: "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years." [url:http\://en.wikipedia.org/wiki/Mood_disorder] +synonym: "dysthymia" EXACT [CSP2005:2483-6681] +xref: ICD10CM:F34.1 +xref: ICD9CM:300.4 +xref: MSH:D019263 +xref: NCI:C34562 +xref: SNOMEDCT_US_2015_03_01:192384008 +xref: SNOMEDCT_US_2015_03_01:78667006 +xref: UMLS_CUI:C0013415 +is_a: DOID:3324 ! mood disorder + +[Term] +id: DOID:1214 +name: tympanosclerosis +xref: ICD9CM:385.09 +xref: SNOMEDCT_US_2015_03_01:111540000 +xref: UMLS_CUI:C0155477 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:12140 +name: Chagas disease +alt_id: DOID:0050016 +alt_id: DOID:0050019 +alt_id: DOID:0050020 +def: "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis." [url:http\://en.wikipedia.org/wiki/Chagas_disease] +subset: zoonotic_infectious_disease +synonym: "American trypanosomiasis" RELATED [] +synonym: "Chagas' disease" EXACT [] +synonym: "chagas' disease with digestive system involvement" EXACT [] +synonym: "chagas' disease with nervous system involvement" EXACT [] +synonym: "chagas' disease with other organ involvement" EXACT [] +xref: ICD9CM:086.2 +xref: KEGG:05142 +xref: SNOMEDCT_US_2015_03_01:186817003 +xref: SNOMEDCT_US_2015_03_01:54570006 +xref: SNOMEDCT_US_2015_03_01:94371000119107 +xref: UMLS_CUI:C0007932 +is_a: DOID:10113 ! trypanosomiasis + +[Term] +id: DOID:12141 +name: adenovirus meningitis +def: "An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion." [url:http\://emedicine.medscape.com/article/1168529-overview, url:http\://virology-online.com/viruses/Adenoviruses3.htm, url:http\://www.cdc.gov/meningitis/about/faq.html] +synonym: "non-arthropod-borne meningitis due to adenovirus" RELATED [] +is_obsolete: true + +[Term] +id: DOID:12143 +name: neurogenic bladder +synonym: "neurogenic bladder (finding)" EXACT [SNOMEDCT_2005_07_31:398064005] +synonym: "neurogenic bladder NOS" EXACT [ICD9CM_2006:596.54] +synonym: "neurogenic dysfunction of the urinary bladder (finding)" EXACT [SNOMEDCT_2005_07_31:23201000] +synonym: "neurogenic dysfunction of the urinary bladder (finding)" EXACT [SNOMEDCT_2005_07_31:397732007] +synonym: "neurogenic urinary bladder disorder" EXACT [CSP2005:3045-9211] +synonym: "Neuropathic bladder" EXACT [SNOMEDCT_2005_07_31:155032006] +synonym: "Neuropathic bladder" EXACT [SNOMEDCT_2005_07_31:192972000] +synonym: "Neuropathic bladder" EXACT [SNOMEDCT_2005_07_31:197883004] +xref: ICD9CM:596.54 +xref: MSH:D001750 +xref: NCI:C79696 +xref: SNOMEDCT_US_2015_03_01:155032006 +xref: SNOMEDCT_US_2015_03_01:192972000 +xref: SNOMEDCT_US_2015_03_01:197883004 +xref: SNOMEDCT_US_2015_03_01:23201000 +xref: SNOMEDCT_US_2015_03_01:397732007 +xref: SNOMEDCT_US_2015_03_01:398064005 +xref: UMLS_CUI:C0005697 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:12144 +name: low compliance bladder +synonym: "hyperactivity of bladder" EXACT [MTHICD9_2006:596.51] +synonym: "hypertonic bladder" EXACT [SNOMEDCT_2005_07_31:314717001] +synonym: "hypertonicity of bladder" EXACT [ICD9CM_2006:596.51] +synonym: "Low bladder compliance" EXACT [ICD9CM_2006:596.52] +synonym: "Low compliance bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:9009001] +xref: ICD9CM:596.52 +xref: SNOMEDCT_US_2015_03_01:9009001 +xref: UMLS_CUI:C0489967 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:12145 +name: detrusor sphincter dyssynergia +synonym: "Detrusor and sphincter dyssynergia (disorder)" EXACT [SNOMEDCT_2005_07_31:236655005] +xref: ICD9CM:596.55 +xref: SNOMEDCT_US_2015_03_01:236655005 +xref: UMLS_CUI:C0341747 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:12148 +name: alveolar echinococcosis +alt_id: DOID:12147 +alt_id: DOID:2774 +def: "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] +synonym: "alveolococcosis" EXACT [] +synonym: "echinococcus multilocularis infection" RELATED [] +synonym: "Multilocular hydatid" EXACT [SNOMEDCT_2005_07_31:240816000] +synonym: "small fox tapeworm" EXACT [] +xref: ICD10CM:B67.6 +xref: ICD10CM:B67.7 +xref: ICD9CM:122.7 +xref: SNOMEDCT_US_2015_03_01:21009004 +xref: SNOMEDCT_US_2015_03_01:240816000 +xref: UMLS_CUI:C0152069 +is_a: DOID:1496 ! echinococcosis + +[Term] +id: DOID:1215 +name: Tympanosclerosis of tympanic membrane only +synonym: "Tympanosclerosis involving tympanic membrane only" EXACT [ICD9CM_2006:385.01] +synonym: "Tympanosclerosis involving tympanic membrane only (disorder)" EXACT [SNOMEDCT_2005_07_31:35522004] +is_obsolete: true + +[Term] +id: DOID:12150 +name: calculus of gallbladder with acute cholecystitis, with obstruction +synonym: "Cholelithiasis AND acute cholecystitis with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:1123004] +synonym: "gallbladder calculus with acute cholecystitis and obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:197378004] +synonym: "gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197379007] +is_obsolete: true + +[Term] +id: DOID:12151 +name: currently pregnant habitual aborter +is_obsolete: true + +[Term] +id: DOID:12155 +name: lymphocytic choriomeningitis +alt_id: DOID:10662 +def: "A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting." [url:http\://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis] +subset: zoonotic_infectious_disease +synonym: "LCM" EXACT [CSP2005:2042-5332] +synonym: "Lymphocytic choriomeningitis virus encephalomyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:397961002] +synonym: "Lymphocytic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:276064006] +synonym: "Lymphocytic meningoencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:276817007] +xref: ICD10CM:A87.2 +xref: ICD9CM:049.0 +xref: MSH:D008216 +xref: SNOMEDCT_US_2015_03_01:186495001 +xref: SNOMEDCT_US_2015_03_01:192668002 +xref: SNOMEDCT_US_2015_03_01:276064006 +xref: SNOMEDCT_US_2015_03_01:276817007 +xref: SNOMEDCT_US_2015_03_01:38666007 +xref: SNOMEDCT_US_2015_03_01:397961002 +xref: SNOMEDCT_US_2015_03_01:398136003 +xref: UMLS_CUI:C0024266 +xref: UMLS_CUI:C0153014 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:12156 +name: arachnoiditis +synonym: "Arachnoiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:8217007] +synonym: "Other meningitis NOS" EXACT [SNOMEDCT_2005_07_31:267681007] +synonym: "Other meningitis NOS" EXACT [SNOMEDCT_2005_07_31:154986008] +xref: ICD10CM:G03 +xref: MSH:D001100 +xref: NCI:C37913 +xref: SNOMEDCT_US_2015_03_01:154986008 +xref: SNOMEDCT_US_2015_03_01:267681007 +xref: SNOMEDCT_US_2015_03_01:8217007 +xref: UMLS_CUI:C0003708 +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:12157 +name: aseptic meningitis +synonym: "acute aseptic meningitis" EXACT [SNOMEDCT_2005_07_31:192672003] +synonym: "Aseptic meningitis" EXACT [SNOMEDCT_2005_07_31:186490006] +synonym: "Aseptic meningitis" EXACT [SNOMEDCT_2005_07_31:58170007] +synonym: "Aseptic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:301770000] +xref: ICD10CM:G03.0 +xref: MSH:D008582 +xref: SNOMEDCT_US_2015_03_01:186490006 +xref: SNOMEDCT_US_2015_03_01:301770000 +xref: SNOMEDCT_US_2015_03_01:58170007 +xref: UMLS_CUI:C0025290 +is_a: DOID:10310 ! viral meningitis + +[Term] +id: DOID:12161 +name: peripheral retinal degeneration +synonym: "peripheral degeneration of retina (disorder)" EXACT [SNOMEDCT_2005_07_31:405721006] +xref: ICD10CM:H35.4 +xref: ICD10CM:H35.40 +xref: ICD9CM:362.6 +xref: ICD9CM:362.60 +xref: NCI:C34919 +xref: SNOMEDCT_US_2015_03_01:193393004 +xref: SNOMEDCT_US_2015_03_01:193394005 +xref: SNOMEDCT_US_2015_03_01:193398008 +xref: SNOMEDCT_US_2015_03_01:405721006 +xref: SNOMEDCT_US_2015_03_01:61536007 +xref: SNOMEDCT_US_2015_03_01:95704002 +xref: UMLS_CUI:C1320640 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:12162 +name: pseudoretinitis pigmentosa +synonym: "Pseudoretinitis pigmentosa (disorder)" EXACT [SNOMEDCT_2005_07_31:193396007] +synonym: "secondary pigmentary degeneration of retina" EXACT [ICD9CM_2006:362.65] +synonym: "secondary pigmentary retinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:35545005] +xref: ICD10CM:H35.45 +xref: ICD9CM:362.65 +xref: SNOMEDCT_US_2015_03_01:35545005 +xref: UMLS_CUI:C0154858 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12163 +name: senile reticular retinal degeneration +synonym: "Senile reticular degeneration of retina" EXACT [ICD9CM_2006:362.64] +synonym: "Senile reticular retinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:54184008] +xref: ICD9CM:362.64 +xref: SNOMEDCT_US_2015_03_01:193395006 +xref: SNOMEDCT_US_2015_03_01:54184008 +xref: UMLS_CUI:C0154857 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12164 +name: Blessig's cysts +synonym: "Blessig cysts" EXACT [] +synonym: "Iwanoff's cysts" EXACT [MTHICD9_2006:362.62] +synonym: "Microcystoid degeneration of retina" EXACT [ICD9CM_2006:362.62] +synonym: "Microcystoid retinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:37075008] +xref: ICD10CM:H35.42 +xref: ICD9CM:362.62 +xref: SNOMEDCT_US_2015_03_01:37075008 +xref: UMLS_CUI:C0154855 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12165 +name: retinal lattice degeneration +synonym: "Palisade degeneration of retina" EXACT [ICD9CM_2006:362.63] +synonym: "Retinal lattice degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:3577000] +xref: ICD10CM:H35.41 +xref: ICD9CM:362.63 +xref: SNOMEDCT_US_2015_03_01:3577000 +xref: UMLS_CUI:C0154856 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12166 +name: cobblestone retinal degeneration +synonym: "Paving stone degeneration of retina" EXACT [ICD9CM_2006:362.61] +synonym: "Paving stone retinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:69134001] +xref: ICD10CM:H35.43 +xref: ICD9CM:362.61 +xref: SNOMEDCT_US_2015_03_01:69134001 +xref: UMLS_CUI:C0154854 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12167 +name: secondary vitreoretinal degeneration +synonym: "secondary vitreoretinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:60676002] +synonym: "secondary vitreoretinal degenerations" EXACT [ICD9CM_2006:362.66] +xref: ICD10CM:H35.46 +xref: ICD9CM:362.66 +xref: SNOMEDCT_US_2015_03_01:193397003 +xref: SNOMEDCT_US_2015_03_01:60676002 +xref: UMLS_CUI:C0154859 +is_a: DOID:12161 ! peripheral retinal degeneration + +[Term] +id: DOID:12168 +name: ulnar nerve lesion +synonym: "Lesion of ulnar nerve" EXACT [ICD9CM_2006:354.2] +synonym: "Lesion of ulnar nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:367475009] +synonym: "Lesion of ulnar nerve, NOS" EXACT [SNOMEDCT_2005_07_31:55802003] +synonym: "Ulnar nerve lesion (disorder)" EXACT [SNOMEDCT_2005_07_31:359834003] +synonym: "Ulnar nerve lesion [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:298121002] +synonym: "Ulnar nerve lesion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193136002] +synonym: "Ulnar nerve lesions (disorder)" EXACT [SNOMEDCT_2005_07_31:267599007] +xref: ICD10CM:G56.2 +xref: ICD10CM:G56.20 +xref: ICD9CM:354.2 +xref: SNOMEDCT_US_2015_03_01:193132000 +xref: SNOMEDCT_US_2015_03_01:193136002 +xref: SNOMEDCT_US_2015_03_01:267599007 +xref: SNOMEDCT_US_2015_03_01:298121002 +xref: SNOMEDCT_US_2015_03_01:359834003 +xref: SNOMEDCT_US_2015_03_01:367475009 +xref: SNOMEDCT_US_2015_03_01:55802003 +xref: UMLS_CUI:C1288279 +is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex + +[Term] +id: DOID:12169 +name: carpal tunnel syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "carpal tunnel median neuropathy" EXACT [CSP2005:2042-6577] +synonym: "Carpal tunnel syndrome" EXACT [ICD9CM_2006:354.0] +synonym: "Carpal tunnel syndrome" EXACT [SNOMEDCT_2005_07_31:155073007] +synonym: "Carpal tunnel syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:57406009] +synonym: "CTS - Carpal tunnel syndrome" EXACT [SNOMEDCT_2005_07_31:193126005] +synonym: "Median nerve entrapment" EXACT [MTHICD9_2006:354.0] +synonym: "Median nerve entrapment (disorder)" EXACT [SNOMEDCT_2005_07_31:246611002] +xref: ICD10CM:G56.0 +xref: ICD10CM:G56.00 +xref: ICD9CM:354.0 +xref: MSH:D002349 +xref: NCI:C34450 +xref: OMIM:115430 +xref: SNOMEDCT_US_2015_03_01:155073007 +xref: SNOMEDCT_US_2015_03_01:193126005 +xref: SNOMEDCT_US_2015_03_01:246611002 +xref: SNOMEDCT_US_2015_03_01:57406009 +xref: UMLS_CUI:C0007286 +is_a: DOID:573 ! nerve compression syndrome + +[Term] +id: DOID:1217 +name: fascioloidiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." [url:http\://en.wikipedia.org/wiki/Fascioloides_magna, url:http\://www.michigan.gov/dnr/1\,1607\,7-153-10370_12150_12220-26639--\,00.html] +xref: MSH:D005213 +xref: SNOMEDCT_US_2015_03_01:69550000 +xref: UMLS_CUI:C0015655 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12170 +name: radial nerve lesion +synonym: "Lesion of radial nerve" EXACT [ICD9CM_2006:354.3] +synonym: "Lesion of radial nerve, NOS" EXACT [SNOMEDCT_2005_07_31:16644004] +synonym: "Radial nerve lesion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193140006] +synonym: "Radial nerve lesions (disorder)" EXACT [SNOMEDCT_2005_07_31:193137006] +xref: ICD10CM:G56.3 +xref: ICD10CM:G56.30 +xref: ICD9CM:354.3 +xref: MSH:D020425 +xref: SNOMEDCT_US_2015_03_01:16644004 +xref: SNOMEDCT_US_2015_03_01:193137006 +xref: SNOMEDCT_US_2015_03_01:193140006 +xref: UMLS_CUI:C0154744 +is_a: DOID:12171 ! radial neuropathy +is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex + +[Term] +id: DOID:12171 +name: radial neuropathy +synonym: "Radial neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:16644004] +xref: MSH:D020425 +xref: SNOMEDCT_US_2015_03_01:16644004 +xref: UMLS_CUI:C0748226 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:12175 +name: dyshormonogenic goiter +synonym: "Dyshormonogenic goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:190304001] +xref: ICD10CM:E07.1 +xref: ICD9CM:246.1 +xref: SNOMEDCT_US_2015_03_01:190304001 +xref: UMLS_CUI:C0152077 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:12176 +name: goiter +def: "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland." [url:http\://www.thyroid.org/patients/patient_brochures/goiter.html] +synonym: "goitre" EXACT [] +xref: ICD10CM:E04.9 +xref: ICD9CM:240.9 +xref: MSH:D006042 +xref: NCI:C26785 +xref: SNOMEDCT_US_2015_03_01:190232008 +xref: SNOMEDCT_US_2015_03_01:190235005 +xref: SNOMEDCT_US_2015_03_01:237568003 +xref: SNOMEDCT_US_2015_03_01:267370001 +xref: SNOMEDCT_US_2015_03_01:3716002 +xref: UMLS_CUI:C0018021 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:12177 +name: common variable immunodeficiency +def: "A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM)." [url:http\://emedicine.medscape.com/article/885935-overview, url:http\://en.wikipedia.org/wiki/Common_variable_immunodeficiency, url:http\://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/common-variable-immunodeficiency-cvid.html, url:http\://www.merck.com/mmpe/sec13/ch164/ch164g.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "acquired agammaglobulinemia" EXACT [NCI2004_11_17:C26725] +synonym: "acquired hypogammaglobulinemia" EXACT [] +synonym: "common variable agammaglobulinemia" EXACT [] +synonym: "CVID" EXACT [] +synonym: "sporadic hypogammaglobulinemia" EXACT [MTHICD9_2006:279.06] +xref: ICD10CM:D83 +xref: ICD10CM:D83.9 +xref: ICD9CM:279.06 +xref: MSH:D017074 +xref: NCI:C26725 +xref: OMIM:240500 +xref: OMIM:607594 +xref: OMIM:613493 +xref: OMIM:613494 +xref: OMIM:613495 +xref: OMIM:613496 +xref: OMIM:614699 +xref: OMIM:614700 +xref: OMIM:615559 +xref: OMIM:615577 +xref: OMIM:615767 +xref: ORDO:1572 +xref: SNOMEDCT_US_2015_03_01:191010004 +xref: SNOMEDCT_US_2015_03_01:23238000 +xref: UMLS_CUI:C0009447 +is_a: DOID:2583 ! agammaglobulinemia + +[Term] +id: DOID:12179 +name: tinea corporis +def: "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly." [url:http\://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaPedis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000877.htm] +synonym: "dermatophytosis of the body" EXACT [] +synonym: "Dermatophytosis of the body (disorder)" EXACT [SNOMEDCT_2005_07_31:266151007] +synonym: "Dermatophytosis of the trunk" EXACT [SNOMEDCT_2005_07_31:84849002] +xref: ICD9CM:110.5 +xref: SNOMEDCT_US_2015_03_01:186994008 +xref: SNOMEDCT_US_2015_03_01:266151007 +xref: SNOMEDCT_US_2015_03_01:84849002 +xref: UMLS_CUI:C0546826 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:1218 +name: echinostomiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm] +synonym: "Echinostomiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:36607007] +synonym: "Infection by Echinochasmus (disorder)" EXACT [SNOMEDCT_2005_07_31:52918004] +xref: ICD10CM:B66.8 +xref: MSH:D004451 +xref: SNOMEDCT_US_2015_03_01:36607007 +xref: SNOMEDCT_US_2015_03_01:52918004 +xref: UMLS_CUI:C0013514 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12180 +name: Fetal Macrosomia +synonym: "fetal macrosomia" EXACT [CSP2005:2403-8925] +is_obsolete: true + +[Term] +id: DOID:12185 +name: otosclerosis +def: "A labyrinthine disease characterized by an abnormal bone growth in the middle ear." [url:http\://en.wikipedia.org/wiki/Otosclerosis, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh] +comment: Xref MGI. +subset: DO_MGI_slim +xref: EFO:0004213 +xref: ICD10CM:H80.8 +xref: ICD10CM:H80.80 +xref: ICD9CM:387.8 +xref: OMIM:166800 +xref: OMIM:605727 +xref: OMIM:608244 +xref: OMIM:608484 +xref: OMIM:611571 +xref: OMIM:611572 +xref: OMIM:612096 +xref: OMIM:615589 +xref: ORDO:2794 +xref: SNOMEDCT_US_2015_03_01:194382008 +xref: SNOMEDCT_US_2015_03_01:194691004 +xref: UMLS_CUI:C0029696 +is_a: DOID:4539 ! labyrinthine disease + +[Term] +id: DOID:12189 +name: metastatic tumor to the colon +is_obsolete: true + +[Term] +id: DOID:1219 +name: dicrocoeliasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm] +synonym: "Dicrocoeliasis (disorder)" EXACT [SNOMEDCT_2005_07_31:8410006] +synonym: "disease due to Dicrocoeliidae (disorder)" EXACT [SNOMEDCT_2005_07_31:105668007] +xref: ICD10CM:B66.2 +xref: MSH:D004011 +xref: SNOMEDCT_US_2015_03_01:8410006 +xref: UMLS_CUI:C0012102 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12190 +name: descending colon cancer +synonym: "Ca descending colon" EXACT [SNOMEDCT_2005_07_31:154457003] +synonym: "Ca descending colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269536008] +synonym: "malignant neoplasm of left colon" EXACT [MTHICD9_2006:153.2] +synonym: "malignant tumor of descending colon (disorder)" EXACT [SNOMEDCT_2005_07_31:363409003] +xref: ICD10CM:C18.6 +xref: ICD9CM:153.2 +xref: SNOMEDCT_US_2015_03_01:154457003 +xref: SNOMEDCT_US_2015_03_01:269536008 +xref: SNOMEDCT_US_2015_03_01:363409003 +xref: SNOMEDCT_US_2015_03_01:93771007 +xref: UMLS_CUI:C0153435 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:12191 +name: splenic flexure cancer +synonym: "Ca splenic flexure - colon" EXACT [SNOMEDCT_2005_07_31:154461009] +synonym: "Ca splenic flexure - colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269540004] +synonym: "malignant neoplasm of splenic flexure" EXACT [ICD9CM_2006:153.7] +synonym: "malignant tumor of splenic flexure (disorder)" EXACT [SNOMEDCT_2005_07_31:363413005] +xref: ICD10CM:C18.5 +xref: ICD9CM:153.7 +xref: SNOMEDCT_US_2015_03_01:154461009 +xref: SNOMEDCT_US_2015_03_01:269540004 +xref: SNOMEDCT_US_2015_03_01:363413005 +xref: SNOMEDCT_US_2015_03_01:94072004 +xref: UMLS_CUI:C0153440 +is_a: DOID:12190 ! descending colon cancer + +[Term] +id: DOID:12192 +name: sigmoid colon cancer +synonym: "Ca sigmoid colon" EXACT [SNOMEDCT_2005_07_31:154458008] +synonym: "Ca sigmoid colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269537004] +synonym: "malignant tumor of sigmoid colon (disorder)" EXACT [SNOMEDCT_2005_07_31:363410008] +xref: ICD10CM:C18.7 +xref: ICD9CM:153.3 +xref: SNOMEDCT_US_2015_03_01:154458008 +xref: SNOMEDCT_US_2015_03_01:269537004 +xref: SNOMEDCT_US_2015_03_01:363410008 +xref: SNOMEDCT_US_2015_03_01:94006002 +xref: UMLS_CUI:C0153436 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:12196 +name: superficial keratitis +synonym: "Superficial keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:27019000] +synonym: "Superficial keratitis, unspecified" EXACT [ICD9CM_2006:370.20] +synonym: "Unspecified superficial keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:193766004] +xref: ICD10CM:H16.10 +xref: ICD9CM:370.20 +xref: SNOMEDCT_US_2015_03_01:193766004 +xref: SNOMEDCT_US_2015_03_01:27019000 +xref: UMLS_CUI:C0155074 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:12197 +name: punctate epithelial keratoconjunctivitis +synonym: "Punctate keratitis" EXACT [ICD9CM_2006:370.21] +synonym: "Punctate keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:42513006] +synonym: "Thygeson superficial punctate keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:416069001] +synonym: "Thygeson's superficial punctate keratitis" EXACT [SNOMEDCT_2005_07_31:193767008] +synonym: "Thygeson's superficial punctate keratitis" EXACT [MTHICD9_2006:370.21] +xref: ICD10CM:H16.14 +xref: ICD9CM:370.21 +xref: SNOMEDCT_US_2015_03_01:193767008 +xref: SNOMEDCT_US_2015_03_01:267634006 +xref: SNOMEDCT_US_2015_03_01:416069001 +xref: SNOMEDCT_US_2015_03_01:42513006 +xref: UMLS_CUI:C0259799 +is_a: DOID:12196 ! superficial keratitis +is_a: DOID:9368 ! keratoconjunctivitis + +[Term] +id: DOID:122 +name: abdominal cancer +def: "A cancer by anatomical entitiy that affects the organs in the abdominal cavity." [url:http\://www.wrongdiagnosis.com/a/abdominal_cancer/intro.htm] +synonym: "abdomen neoplasm" EXACT [CSP2005:2005-4146] +synonym: "abdominal neoplasm" EXACT [MTH:003] +synonym: "neoplasm of abdomen (disorder)" EXACT [SNOMEDCT_2005_07_31:128050000] +synonym: "tumor of abdomen (disorder)" EXACT [SNOMEDCT_2005_07_31:255060007] +is_obsolete: true + +[Term] +id: DOID:12204 +name: catatonic schizophrenia in remission +synonym: "Catatonic schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:111483008] +synonym: "Catatonic type schizophrenia, in remission" EXACT [ICD9CM_2006:295.25] +is_obsolete: true + +[Term] +id: DOID:12205 +name: dengue disease +alt_id: DOID:0050142 +def: "A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding." [url:http\://www.cdc.gov/dengue/fAQFacts/index.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue] +subset: zoonotic_infectious_disease +synonym: "breakbone fever" EXACT [CSP2005:3100-2165] +synonym: "classic dengue" EXACT [] +synonym: "classical dengue" RELATED [] +synonym: "Dengue Fever" EXACT [NCI2004_11_17:C34528] +xref: ICD10CM:A90 +xref: ICD9CM:061 +xref: MSH:D003715 +xref: NCI:C34528 +xref: SNOMEDCT_US_2015_03_01:154345006 +xref: SNOMEDCT_US_2015_03_01:266194002 +xref: SNOMEDCT_US_2015_03_01:38362002 +xref: UMLS_CUI:C0011311 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:12206 +name: dengue hemorrhagic fever +def: "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf, url:http\://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm, url:http\://www.who.int/mediacentre/factsheets/fs117/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever] +subset: zoonotic_infectious_disease +synonym: "Dengue haemorrhagic fever" RELATED [SNOMEDCT_2005_07_31:186598001] +synonym: "DHF" EXACT [] +xref: ICD10CM:A91 +xref: MSH:D019595 +xref: NCI:C34683 +xref: SNOMEDCT_US_2015_03_01:186598001 +xref: SNOMEDCT_US_2015_03_01:186599009 +xref: SNOMEDCT_US_2015_03_01:20927009 +xref: UMLS_CUI:C0019100 +is_a: DOID:12205 ! dengue disease + +[Term] +id: DOID:1221 +name: infiltrative lung tuberculosis +def: "A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung." [url:http\://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:12210 +name: Wuchereria bancrofti filariasis +def: "A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis." [url:http\://en.wikipedia.org/wiki/Wuchereria_bancrofti] +synonym: "Bancroftian filariasis" EXACT [ICD9CM_2006:125.0] +synonym: "Infection by Wuchereria bancrofti (disorder)" EXACT [SNOMEDCT_2005_07_31:77947001] +synonym: "Infection due to Wuchereria bancrofti" EXACT [MTHICD9_2006:125.0] +synonym: "Wuchereria bancrofti infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12211 +name: filarial elephantiasis +alt_id: DOID:13433 +def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." [url:http\://www.who.int/mediacentre/factsheets/fs102/en/] +synonym: "Bancroftian elephantiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:91586009] +synonym: "Bancroftian filarial chyluria" EXACT [SNOMEDCT_2005_07_31:240825006] +synonym: "elephantiasis of eyelid" EXACT [] +synonym: "Elephantiasis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:14100003] +synonym: "Lymphatic filariasis (disorder)" EXACT [SNOMEDCT_2005_07_31:240820001] +xref: ICD10CM:B74.0 +xref: MSH:D004605 +xref: SNOMEDCT_US_2015_03_01:240820001 +xref: SNOMEDCT_US_2015_03_01:240825006 +xref: SNOMEDCT_US_2015_03_01:91586009 +xref: UMLS_CUI:C0013884 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:12215 +name: oligohydramnios +alt_id: DOID:12595 +alt_id: DOID:12596 +def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." [url:http\://www.merriam-webster.com/medlineplus/oligohydramnios] +synonym: "antepartum oligohydramnios" EXACT [] +synonym: "delivered oligohydramnios" EXACT [] +synonym: "Oligohydramnios - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199653002] +xref: ICD10CM:O41.0 +xref: ICD10CM:O41.00 +xref: ICD9CM:658.0 +xref: MSH:D016104 +xref: NCI:C92839 +xref: SNOMEDCT_US_2015_03_01:156190009 +xref: SNOMEDCT_US_2015_03_01:157051001 +xref: SNOMEDCT_US_2015_03_01:199652007 +xref: SNOMEDCT_US_2015_03_01:199656005 +xref: SNOMEDCT_US_2015_03_01:59566000 +xref: UMLS_CUI:C0079924 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:12217 +name: Lewy body dementia +def: "A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities." [url:http\://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies, url:http\://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dementia with Lewy bodies" EXACT [ICD9CM_2006:331.82] +synonym: "Diffuse Lewy body disease (disorder)" EXACT [SNOMEDCT_2005_07_31:80098002] +synonym: "Lewy body disease" EXACT [SNOMEDCT_2005_07_31:230277007] +synonym: "Senile dementia of the Lewy body type (disorder)" EXACT [SNOMEDCT_2005_07_31:312991009] +xref: ICD10CM:G31.83 +xref: ICD9CM:331.82 +xref: MSH:D020961 +xref: NCI:C84826 +xref: OMIM:127750 +xref: SNOMEDCT_US_2015_03_01:192808003 +xref: SNOMEDCT_US_2015_03_01:230275004 +xref: SNOMEDCT_US_2015_03_01:230276003 +xref: SNOMEDCT_US_2015_03_01:230277007 +xref: SNOMEDCT_US_2015_03_01:312991009 +xref: SNOMEDCT_US_2015_03_01:80098002 +xref: UMLS_CUI:C0752347 +is_a: DOID:0050890 ! synucleinopathy +is_a: DOID:1307 ! dementia + +[Term] +id: DOID:1222 +name: cartilage disease +synonym: "Cartilage disorder" EXACT [SNOMEDCT_2005_07_31:268062001] +synonym: "Chondropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:367355001] +xref: ICD10CM:M91-M94 +xref: ICD10CM:M94.9 +xref: MSH:D002357 +xref: SNOMEDCT_US_2015_03_01:203526003 +xref: SNOMEDCT_US_2015_03_01:203908009 +xref: SNOMEDCT_US_2015_03_01:203914002 +xref: SNOMEDCT_US_2015_03_01:268062001 +xref: SNOMEDCT_US_2015_03_01:268126004 +xref: SNOMEDCT_US_2015_03_01:308148004 +xref: SNOMEDCT_US_2015_03_01:367355001 +xref: SNOMEDCT_US_2015_03_01:50927007 +xref: UMLS_CUI:C0007302 +is_a: DOID:6227 ! articular cartilage disease + +[Term] +id: DOID:12221 +name: Synovial, tendon or bursa disorder +synonym: "Synovial, tendon or bursa disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:203006006] +synonym: "Unspecified disorder of synovium, tendon, and bursa" EXACT [ICD9CM_2006:727.9] +is_obsolete: true + +[Term] +id: DOID:12223 +name: specific bursitis often of occupational origin +synonym: "Specific bursitides often of occupational origin" EXACT [ICD9CM_2006:727.2] +synonym: "Specific bursitis often of occupational origin (disorder)" EXACT [SNOMEDCT_2005_07_31:42812006] +xref: ICD9CM:727.2 +xref: SNOMEDCT_US_2015_03_01:42812006 +xref: UMLS_CUI:C0158332 +is_a: DOID:2965 ! bursitis + +[Term] +id: DOID:12224 +name: calcium deposits in tendon and bursa +is_obsolete: true + +[Term] +id: DOID:12225 +name: Plica syndrome +xref: ICD10CM:M67.5 +xref: ICD9CM:727.83 +xref: UMLS_CUI:C0878705 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:12226 +name: hearing disease +synonym: "Auditory dysfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:362989003] +synonym: "disorder of auditory system (disorder)" EXACT [SNOMEDCT_2005_07_31:362966006] +synonym: "Hearing disorder" EXACT [NCI2004_11_17:C3078] +synonym: "hearing disorder" EXACT [CSP2005:0977-5687] +synonym: "Hearing disorder (finding)" EXACT [SNOMEDCT_2005_07_31:128540005] +synonym: "Hearing problem (finding)" EXACT [SNOMEDCT_2005_07_31:300228004] +is_obsolete: true + +[Term] +id: DOID:12228 +name: secondary malignant neoplasm of large intestine and rectum +synonym: "secondary malignant neoplasm of large intestine and rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:188440001] +synonym: "secondary malignant neoplasm of large intestine or rectum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188444005] +is_obsolete: true + +[Term] +id: DOID:12234 +name: cascade stomach +synonym: "Cascade stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:54051005] +synonym: "Hourglass stricture or stenosis of stomach" EXACT [ICD9CM_2006:537.6] +xref: ICD10CM:K31.2 +xref: ICD9CM:537.6 +xref: SNOMEDCT_US_2015_03_01:54051005 +xref: UMLS_CUI:C0267183 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:12236 +name: primary biliary cirrhosis +alt_id: DOID:1851 +def: "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." [url:http\://en.wikipedia.org/wiki/Primary_biliary_cirrhosis, url:http\://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "biliary liver cirrhosis" EXACT [] +synonym: "cholestatic cirrhosis" EXACT [] +synonym: "chronic nonsuppurative destructive cholangitis" EXACT [SNOMEDCT_2005_07_31:1761006] +xref: EFO:0004267 +xref: ICD10CM:K74.3 +xref: ICD10CM:K74.5 +xref: ICD9CM:571.6 +xref: MSH:D008105 +xref: NCI:C27167 +xref: NCI:C51225 +xref: OMIM:109720 +xref: OMIM:613007 +xref: OMIM:613008 +xref: OMIM:614220 +xref: OMIM:614221 +xref: ORDO:186 +xref: SNOMEDCT_US_2015_03_01:155815006 +xref: SNOMEDCT_US_2015_03_01:1761006 +xref: SNOMEDCT_US_2015_03_01:197311004 +xref: SNOMEDCT_US_2015_03_01:266540000 +xref: SNOMEDCT_US_2015_03_01:31712002 +xref: UMLS_CUI:C0008312 +xref: UMLS_CUI:C0023892 +is_a: DOID:0060049 ! autoimmune disease of urogenital tract +is_a: DOID:5082 ! liver cirrhosis + +[Term] +id: DOID:12237 +name: bile reflux +xref: MSH:D001655 +xref: UMLS_CUI:C0005403 +is_a: DOID:9741 ! biliary tract disease + +[Term] +id: DOID:12239 +name: anal margin squamous cell carcinoma +synonym: "Perianal skin squamous cell carcinoma" EXACT [NCI2004_11_17:C6925] +synonym: "squamous cell carcinoma of anal margin" RELATED [] +synonym: "squamous cell carcinoma of anal margin (disorder)" EXACT [SNOMEDCT_2005_07_31:255084004] +xref: ICD10CM:C44.520 +xref: NCI:C6925 +xref: SNOMEDCT_US_2015_03_01:255084004 +xref: UMLS_CUI:C1412037 +is_a: DOID:4284 ! anal margin carcinoma + +[Term] +id: DOID:12241 +name: beta thalassemia +def: "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." [url:http\://en.wikipedia.org/wiki/Beta_thalassemia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:D56.1 +xref: ICD9CM:282.44 +xref: MSH:D017086 +xref: NCI:C34375 +xref: OMIM:187550 +xref: OMIM:603902 +xref: OMIM:613985 +xref: ORDO:848 +xref: SNOMEDCT_US_2015_03_01:191190000 +xref: SNOMEDCT_US_2015_03_01:65959000 +xref: SNOMEDCT_US_2015_03_01:79592006 +xref: UMLS_CUI:C0005283 +is_a: DOID:10241 ! thalassemia + +[Term] +id: DOID:12245 +name: histoplasmosis endocarditis +def: "A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions." [url:http\://emedicine.medscape.com/article/299054-overview] +synonym: "Histoplasma capsulatum endocarditis" EXACT [ICD9CM_2006:115.04] +synonym: "Histoplasma capsulatum with endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187041005] +synonym: "Histoplasmosis with endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187060003] +is_obsolete: true + +[Term] +id: DOID:12246 +name: histoplasmosis meningitis +synonym: "Histoplasmosis with meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187057005] +xref: ICD9CM:115.91 +xref: SNOMEDCT_US_2015_03_01:187057005 +xref: UMLS_CUI:C0153277 +is_a: DOID:11608 ! fungal meningitis + +[Term] +id: DOID:12251 +name: hypoaldosteronism +synonym: "Aldosterone deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:60086000] +synonym: "hypoaldosteronism" EXACT [CSP2005:0060-4670] +is_obsolete: true + +[Term] +id: DOID:12252 +name: Cushing's syndrome +def: "An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." [URL:http\://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome] +synonym: "Cushing syndrome" EXACT [] +synonym: "pituitary basophilism" EXACT [CSP2005:0060-4199] +synonym: "Suprarenogenic syndrome" EXACT [SNOMEDCT_2005_07_31:47270006] +xref: ICD10CM:E24 +xref: ICD10CM:E24.9 +xref: ICD9CM:255.0 +xref: MSH:D003480 +xref: NCI:C2969 +xref: SNOMEDCT_US_2015_03_01:154705004 +xref: SNOMEDCT_US_2015_03_01:190505004 +xref: SNOMEDCT_US_2015_03_01:47270006 +xref: UMLS_CUI:C0010481 +is_a: DOID:3947 ! adrenal gland hyperfunction + +[Term] +id: DOID:12253 +name: testicular lymphoma +synonym: "lymphoma of the testis" EXACT [] +synonym: "malignant lymphoma of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:277664004] +synonym: "testicular Lymphoma" EXACT [NCI2004_11_17:C6810] +xref: NCI:C6810 +xref: SNOMEDCT_US_2015_03_01:277664004 +xref: UMLS_CUI:C0349644 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:12254 +name: metastatic tumor to the testis +synonym: "metastatic neoplasm to the testis" EXACT [NCI2004_11_17:C4584] +synonym: "secondary malignant neoplasm of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:94623007] +is_obsolete: true + +[Term] +id: DOID:12255 +name: congenital adrenal hyperplasia +synonym: "Congenital Adrenal hyperplasia" EXACT [NCI2004_11_17:C34360] +synonym: "congenital adrenal hyperplasia" EXACT [CSP2005:0060-3730] +synonym: "Congenital adrenal hyperplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:237751000] +synonym: "Congenital adrenal hyperplasia, NOS" EXACT [SNOMEDCT_2005_07_31:27037004] +is_obsolete: true + +[Term] +id: DOID:12256 +name: adrenogenital disease +is_obsolete: true + +[Term] +id: DOID:12257 +name: medulloadrenal hyperfunction +synonym: "Medulloadrenal hyperfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:111565003] +xref: ICD10CM:E27.5 +xref: ICD9CM:255.6 +xref: SNOMEDCT_US_2015_03_01:111565003 +xref: UMLS_CUI:C0154206 +is_a: DOID:9553 ! adrenal gland disease + +[Term] +id: DOID:12258 +name: acquired factor IX deficiency +synonym: "acquired factor IX deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:12153008] +is_obsolete: true + +[Term] +id: DOID:12259 +name: hemophilia B +def: "An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000539.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital factor IX deficiency" EXACT [SNOMEDCT_2005_07_31:154817006] +synonym: "Congenital factor IX disorder" EXACT [ICD9CM_2006:286.1] +synonym: "deficiency, functional factor IX" EXACT [MTHICD9_2006:286.1] +synonym: "Factor IX deficiency" EXACT [SNOMEDCT_2005_07_31:234443007] +synonym: "Factor IX deficiency" EXACT [NCI2004_11_17:C26721] +synonym: "factor IX deficiency" EXACT [CSP2005:0438-3499] +synonym: "Hemophilia B (disorder)" EXACT [SNOMEDCT_2005_07_31:41788008] +xref: ICD10CM:D67 +xref: ICD9CM:286.1 +xref: MSH:D002836 +xref: NCI:C26721 +xref: OMIM:306900 +xref: SNOMEDCT_US_2015_03_01:154817006 +xref: SNOMEDCT_US_2015_03_01:234443007 +xref: SNOMEDCT_US_2015_03_01:41788008 +xref: UMLS_CUI:C0008533 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:12265 +name: chronic salpingo-oophoritis +synonym: "chronic salpingitis and oophoritis" EXACT [ICD9CM_2006:614.1] +synonym: "chronic salpingitis and oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:198140009] +synonym: "chronic salpingitis and oophoritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198146003] +synonym: "chronic salpingitis/oophoritis" EXACT [SNOMEDCT_2005_07_31:155970008] +synonym: "chronic salpingitis/oophoritis" EXACT [SNOMEDCT_2005_07_31:266649009] +synonym: "chronic salpingo-oophoritis (disorder)" EXACT [SNOMEDCT_2005_07_31:198142001] +xref: ICD10CM:N70.1 +xref: ICD10CM:N70.13 +xref: ICD9CM:614.1 +xref: SNOMEDCT_US_2015_03_01:155970008 +xref: SNOMEDCT_US_2015_03_01:198140009 +xref: SNOMEDCT_US_2015_03_01:198142001 +xref: SNOMEDCT_US_2015_03_01:198146003 +xref: SNOMEDCT_US_2015_03_01:266649009 +xref: UMLS_CUI:C0156328 +is_a: DOID:10972 ! salpingo-oophoritis +is_a: DOID:5731 ! chronic salpingitis + +[Term] +id: DOID:12268 +name: eclampsia with delivery +is_obsolete: true + +[Term] +id: DOID:12269 +name: Toxemia with convulsions complicating pregnancy, childbirth or the puerperium +is_obsolete: true + +[Term] +id: DOID:1227 +name: neutropenia +xref: ICD10CM:D70 +xref: ICD10CM:D70.9 +xref: ICD9CM:288.0 +xref: ICD9CM:288.00 +xref: MSH:D009503 +xref: SNOMEDCT_US_2015_03_01:142928004 +xref: SNOMEDCT_US_2015_03_01:191336001 +xref: SNOMEDCT_US_2015_03_01:303011007 +xref: SNOMEDCT_US_2015_03_01:72885007 +xref: UMLS_CUI:C0027947 +is_a: DOID:12987 ! agranulocytosis + +[Term] +id: DOID:12270 +name: coloboma +def: "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc." [url:http\://en.wikipedia.org/wiki/Coloboma, url:http\://ghr.nlm.nih.gov/condition/coloboma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "coloboma of eye" EXACT [] +synonym: "coloboma of macula" EXACT [] +synonym: "congenital ocular coloboma" EXACT [] +xref: ICD10CM:Q13.0 +xref: MSH:D003103 +xref: NCI:C98877 +xref: OMIM:120200 +xref: OMIM:120300 +xref: OMIM:216820 +xref: ORDO:194 +xref: ORDO:98945 +xref: SNOMEDCT_US_2015_03_01:92828000 +xref: SNOMEDCT_US_2015_03_01:93390002 +xref: UMLS_CUI:C0009363 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:12271 +name: aniridia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Aniridia (disorder)" EXACT [SNOMEDCT_2005_07_31:69278003] +synonym: "Aplasia of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:204161008] +xref: ICD10CM:Q13.1 +xref: ICD9CM:743.45 +xref: MSH:D015783 +xref: NCI:C84563 +xref: OMIM:106210 +xref: SNOMEDCT_US_2015_03_01:204161008 +xref: SNOMEDCT_US_2015_03_01:69278003 +xref: UMLS_CUI:C0003076 +is_a: DOID:240 ! iris disease + +[Term] +id: DOID:12273 +name: anisometropia +xref: CSP:1116-1678 +xref: ICD10CM:H52.31 +xref: ICD9CM:367.31 +xref: MSH:D015858 +xref: SNOMEDCT_US_2015_03_01:3289004 +xref: UMLS_CUI:C0003081 +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:12274 +name: anisometropia and aniseikonia +synonym: "Anisometropia and aniseikonia (disorder)" EXACT [SNOMEDCT_2005_07_31:193628007] +synonym: "Anisometropia or aniseikonia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193629004] +is_obsolete: true + +[Term] +id: DOID:12275 +name: cutaneous diphtheria +def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." [url:http\://en.wikipedia.org/wiki/Diphtheria, url:http\://www.merck.com/mmpe/sec14/ch172/ch172c.html, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746] +synonym: "Cutaneous Diphtheria" EXACT [NCI2004_11_17:C34544] +synonym: "Cutaneous diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:18901009] +xref: ICD10CM:A36.3 +xref: ICD9CM:032.85 +xref: NCI:C34544 +xref: SNOMEDCT_US_2015_03_01:18901009 +xref: UMLS_CUI:C0012555 +is_a: DOID:4223 ! pyoderma + +[Term] +id: DOID:12276 +name: malignant tumor of undescended testis +synonym: "malignant neoplasm of retained testis" EXACT [MTHICD9_2006:186.0] +synonym: "malignant neoplasm of undescended testis" EXACT [ICD9CM_2006:186.0] +synonym: "malignant neoplasm of undescended testis" EXACT [SNOMEDCT_2005_07_31:94113004] +synonym: "malignant neoplasm of undescended testis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188224001] +synonym: "malignant tumor of retained testis (disorder)" EXACT [SNOMEDCT_2005_07_31:188221009] +synonym: "malignant tumor of undescended testis (disorder)" EXACT [SNOMEDCT_2005_07_31:188219004] +xref: ICD10CM:C62.0 +xref: ICD9CM:186.0 +xref: SNOMEDCT_US_2015_03_01:188219004 +xref: SNOMEDCT_US_2015_03_01:188221009 +xref: SNOMEDCT_US_2015_03_01:188224001 +xref: SNOMEDCT_US_2015_03_01:94113004 +xref: UMLS_CUI:C0153595 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:1228 +name: paranoid type schizophrenia in remission +is_obsolete: true + +[Term] +id: DOID:12282 +name: femoral vein thrombophlebitis +synonym: "Phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [ICD9CM_2006:451.11] +synonym: "Thrombophlebitis of deep femoral vein (disorder)" EXACT [SNOMEDCT_2005_07_31:1748006] +synonym: "Thrombophlebitis of the femoral vein (disorder)" EXACT [SNOMEDCT_2005_07_31:195410000] +xref: ICD10CM:I80.1 +xref: ICD9CM:451.11 +xref: SNOMEDCT_US_2015_03_01:1748006 +xref: SNOMEDCT_US_2015_03_01:195410000 +xref: UMLS_CUI:C0265066 +is_a: DOID:3875 ! thrombophlebitis + +[Term] +id: DOID:12284 +name: maternal pyrexia in labor +is_obsolete: true + +[Term] +id: DOID:12286 +name: testicular leukemia +xref: NCI:C9277 +xref: UMLS_CUI:C1336711 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:12287 +name: Crimean-Congo hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm, url:http\://www.who.int/mediacentre/factsheets/fs208/en/] +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "CHF Congo virus" EXACT [MTHICD9_2006:065.0] +synonym: "Congo-Crimean Hemorrhagic Fever" EXACT [NCI2004_11_17:C34682] +synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [ICD9CM_2006:065.0] +xref: ICD10CM:A98.0 +xref: ICD9CM:065.0 +xref: MSH:D006479 +xref: NCI:C34682 +xref: SNOMEDCT_US_2015_03_01:43489008 +xref: UMLS_CUI:C0019099 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:1229 +name: paranoid schizophrenia +alt_id: DOID:11238 +alt_id: DOID:1230 +def: "A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening." [url:http\://en.wikipedia.org/wiki/Paranoid_schizophrenia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000936.htm] +synonym: "chronic paranoid schizophrenia" EXACT [] +synonym: "Paranoid type schizophrenia" EXACT [ICD9CM_2006:295.3] +synonym: "paranoid type schizophrenia subchronic state" EXACT [] +synonym: "Paraphrenia - late" EXACT [SNOMEDCT_2005_07_31:192330005] +synonym: "Paraphrenic schizophrenia" EXACT [MTHICD9_2006:295.3] +xref: ICD10CM:F20.0 +xref: ICD9CM:295.3 +xref: ICD9CM:295.30 +xref: ICD9CM:295.31 +xref: ICD9CM:295.32 +xref: MSH:D012563 +xref: NCI:C35006 +xref: SNOMEDCT_US_2015_03_01:154865007 +xref: SNOMEDCT_US_2015_03_01:154869001 +xref: SNOMEDCT_US_2015_03_01:191551006 +xref: SNOMEDCT_US_2015_03_01:191553009 +xref: SNOMEDCT_US_2015_03_01:191557005 +xref: SNOMEDCT_US_2015_03_01:192319007 +xref: SNOMEDCT_US_2015_03_01:192330005 +xref: SNOMEDCT_US_2015_03_01:268747005 +xref: SNOMEDCT_US_2015_03_01:268748000 +xref: SNOMEDCT_US_2015_03_01:31658008 +xref: SNOMEDCT_US_2015_03_01:64905009 +xref: UMLS_CUI:C0036349 +xref: UMLS_CUI:C0154354 +xref: UMLS_CUI:C0270398 +is_a: DOID:5419 ! schizophrenia + +[Term] +id: DOID:12292 +name: recurrent malignant endocervical neoplasm +is_obsolete: true + +[Term] +id: DOID:12294 +name: atypical depressive disorder +def: "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." [url:http\://en.wikipedia.org/wiki/Mood_disorder] +synonym: "Atypical depression" EXACT [SNOMEDCT_2005_07_31:192371004] +xref: ICD10CM:F32.8 +xref: ICD9CM:296.82 +xref: SNOMEDCT_US_2015_03_01:191659001 +xref: SNOMEDCT_US_2015_03_01:192371004 +xref: SNOMEDCT_US_2015_03_01:277538003 +xref: UMLS_CUI:C0154437 +is_a: DOID:3324 ! mood disorder + +[Term] +id: DOID:12297 +name: Vogt-Koyanagi-Harada disease +def: "A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome] +synonym: "Harada's disease" EXACT [ICD9CM_2006:363.22] +synonym: "uveomeningoencephalitic syndrome" EXACT [] +synonym: "Vogt-Koyanagi syndrome" EXACT [ICD9CM_2006:364.24] +synonym: "Vogt-Koyanagi-Harada disease (disorder)" EXACT [SNOMEDCT_2005_07_31:193497004] +xref: ICD10CM:H20.82 +xref: ICD10CM:H30.81 +xref: ICD9CM:363.22 +xref: ICD9CM:364.24 +xref: MSH:D014607 +xref: NCI:C85218 +xref: SNOMEDCT_US_2015_03_01:193453003 +xref: SNOMEDCT_US_2015_03_01:193497004 +xref: SNOMEDCT_US_2015_03_01:44923005 +xref: SNOMEDCT_US_2015_03_01:47230004 +xref: UMLS_CUI:C0042170 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:12298 +name: intrahepatic gall duct cancer +synonym: "Ca intrahepatic bile ducts" EXACT [SNOMEDCT_2005_07_31:154471006] +synonym: "Ca intrahepatic bile ducts (disorder)" EXACT [SNOMEDCT_2005_07_31:269549003] +synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [SNOMEDCT_2005_07_31:93840005] +synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [ICD9CM_2006:155.1] +synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [SNOMEDCT_2005_07_31:187772002] +synonym: "malignant neoplasm of intrahepatic bile ducts NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187778003] +synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [MTHICD9_2006:155.1] +synonym: "malignant neoplasm of intrahepatic biliary passages (disorder)" EXACT [SNOMEDCT_2005_07_31:187775000] +synonym: "malignant neoplasm of intrahepatic gall duct (disorder)" EXACT [SNOMEDCT_2005_07_31:187777008] +xref: ICD9CM:155.1 +xref: SNOMEDCT_US_2015_03_01:154471006 +xref: SNOMEDCT_US_2015_03_01:187772002 +xref: SNOMEDCT_US_2015_03_01:187775000 +xref: SNOMEDCT_US_2015_03_01:187777008 +xref: SNOMEDCT_US_2015_03_01:187778003 +xref: SNOMEDCT_US_2015_03_01:269549003 +xref: SNOMEDCT_US_2015_03_01:93840005 +xref: UMLS_CUI:C0546835 +is_a: DOID:3121 ! gallbladder cancer + +[Term] +id: DOID:12301 +name: speckled lentiginous nevus +synonym: "Naevus spilus" EXACT [SNOMEDCT_2005_07_31:254814003] +synonym: "nevus spilus (disorder)" EXACT [SNOMEDCT_2005_07_31:398660000] +synonym: "Speckled lentiginous naevus" EXACT [SNOMEDCT_2005_07_31:75534002] +is_obsolete: true + +[Term] +id: DOID:12302 +name: diphtheritic membranous angina +def: "A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils." [url:http\://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Faucial Diphtheria" EXACT [NCI2004_11_17:C34545] +synonym: "Faucial diphtheria" EXACT [ICD9CM_2006:032.0] +synonym: "Faucial diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:3419005] +is_obsolete: true + +[Term] +id: DOID:12304 +name: conjunctival pigmentation +synonym: "Conjunctival pigmentation (disorder)" EXACT [SNOMEDCT_2005_07_31:66081003] +synonym: "Conjunctival pigmentations" EXACT [ICD9CM_2006:372.55] +synonym: "Conjunctival pigmentations" EXACT [SNOMEDCT_2005_07_31:193888007] +xref: ICD10CM:H11.13 +xref: ICD9CM:372.55 +xref: SNOMEDCT_US_2015_03_01:193888007 +xref: SNOMEDCT_US_2015_03_01:267645009 +xref: SNOMEDCT_US_2015_03_01:66081003 +xref: UMLS_CUI:C0155163 +is_a: DOID:10123 ! pigmentation disease +is_a: DOID:11653 ! conjunctival deposit + +[Term] +id: DOID:12305 +name: Bloch-Sulzberger syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Incontinentia pigmenti (disorder)" EXACT [SNOMEDCT_2005_07_31:205567005] +synonym: "Incontinentia pigmenti syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:367520004] +xref: ICD10CM:Q82.3 +xref: MSH:D007184 +xref: NCI:C84787 +xref: OMIM:308300 +xref: SNOMEDCT_US_2015_03_01:205567005 +xref: SNOMEDCT_US_2015_03_01:367520004 +xref: SNOMEDCT_US_2015_03_01:806001 +xref: UMLS_CUI:C0021171 +is_a: DOID:10123 ! pigmentation disease + +[Term] +id: DOID:12306 +name: vitiligo +def: "A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Vitiligo] +comment: OMIM mapping confirmed by DO. [LS]. +xref: EFO:0004208 +xref: ICD10CM:L80 +xref: ICD9CM:709.01 +xref: MSH:D014820 +xref: NCI:C26915 +xref: OMIM:193200 +xref: SNOMEDCT_US_2015_03_01:156437000 +xref: SNOMEDCT_US_2015_03_01:56727007 +xref: UMLS_CUI:C0042900 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:12307 +name: anterior corneal pigmentation +synonym: "Anterior corneal pigmentation (disorder)" EXACT [SNOMEDCT_2005_07_31:18377001] +synonym: "Anterior corneal pigmentations" EXACT [ICD9CM_2006:371.11] +synonym: "Anterior corneal pigmentations" EXACT [SNOMEDCT_2005_07_31:193805008] +synonym: "Anterior corneal pigmentations (disorder)" EXACT [SNOMEDCT_2005_07_31:270489003] +xref: ICD10CM:H18.01 +xref: ICD9CM:371.11 +xref: SNOMEDCT_US_2015_03_01:18377001 +xref: SNOMEDCT_US_2015_03_01:193805008 +xref: SNOMEDCT_US_2015_03_01:270489003 +xref: UMLS_CUI:C0155104 +is_a: DOID:11547 ! corneal deposit + +[Term] +id: DOID:12308 +name: Dubin-Johnson syndrome +def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile." [url:http\://en.wikipedia.org/wiki/Dubin-Johnson_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "chronic idiopathic jaundice" EXACT [] +synonym: "Dubin Johnson syndrome" EXACT [CSP2005:1654-1020] +xref: ICD10CM:E80.6 +xref: MSH:D007566 +xref: NCI:C34741 +xref: OMIM:237500 +xref: SNOMEDCT_US_2015_03_01:44553005 +xref: UMLS_CUI:C0022350 +is_a: DOID:2741 ! bilirubin metabolic disorder + +[Term] +id: DOID:12309 +name: urticaria pigmentosa +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "UP/MPCM" EXACT [NCI2004_11_17:C3433] +xref: ICD10CM:Q82.2 +xref: MSH:D014582 +xref: NCI:C3433 +xref: OMIM:154800 +xref: SNOMEDCT_US_2015_03_01:205566001 +xref: SNOMEDCT_US_2015_03_01:703828003 +xref: SNOMEDCT_US_2015_03_01:78745000 +xref: UMLS_CUI:C0042111 +is_a: DOID:3663 ! cutaneous mastocytosis + +[Term] +id: DOID:1231 +name: chronic schizophrenia +synonym: "chronic Schizophrenia" EXACT [NCI2004_11_17:C35270] +synonym: "chronic schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:83746006] +is_obsolete: true + +[Term] +id: DOID:12311 +name: stromal corneal pigmentation +synonym: "Stromal corneal pigmentation (disorder)" EXACT [SNOMEDCT_2005_07_31:55031000] +synonym: "Stromal corneal pigmentations" EXACT [ICD9CM_2006:371.12] +xref: ICD10CM:H18.06 +xref: ICD9CM:371.12 +xref: SNOMEDCT_US_2015_03_01:55031000 +xref: UMLS_CUI:C0155105 +is_a: DOID:10123 ! pigmentation disease +is_a: DOID:11547 ! corneal deposit + +[Term] +id: DOID:12318 +name: corneal granular dystrophy +synonym: "granular Corneal Dystrophy" EXACT [NCI2004_11_17:C34651] +synonym: "granular corneal dystrophy" EXACT [ICD9CM_2006:371.53] +synonym: "granular corneal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:45283008] +xref: ICD10CM:H18.53 +xref: ICD9CM:371.53 +xref: MSH:D003317 +xref: NCI:C34651 +xref: SNOMEDCT_US_2015_03_01:45283008 +xref: UMLS_CUI:C0018179 +is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy + +[Term] +id: DOID:1232 +name: paranoid type schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:12323 +name: cough variant asthma +def: "An asthma that is characterized by chronic nonproductive cough without shortness of breath." [url:http\://www.aaaai.org/patients/topicofthemonth/0107/, url:http\://www.ncbi.nlm.nih.gov/pubmed/19272144] +synonym: "Cough variant asthma (disorder)" EXACT [SNOMEDCT_2005_07_31:409663006] +xref: ICD10CM:J45.991 +xref: ICD9CM:493.82 +xref: SNOMEDCT_US_2015_03_01:409663006 +xref: UMLS_CUI:C0694548 +is_a: DOID:2841 ! asthma + +[Term] +id: DOID:12324 +name: transsexuality with homosexual history +synonym: "Trans-sexualism with homosexual history" EXACT [ICD9CM_2006:302.52] +synonym: "Transsexuality with homosexual history (disorder)" EXACT [SNOMEDCT_2005_07_31:191784008] +is_obsolete: true + +[Term] +id: DOID:12325 +name: kyphoscoliotic heart disease +synonym: "Kyphoscoliotic heart disease (disorder)" EXACT [SNOMEDCT_2005_07_31:45650007] +xref: ICD10CM:I27.1 +xref: ICD9CM:416.1 +xref: SNOMEDCT_US_2015_03_01:194886003 +xref: SNOMEDCT_US_2015_03_01:45650007 +xref: UMLS_CUI:C0152102 +is_a: DOID:12326 ! chronic pulmonary heart disease + +[Term] +id: DOID:12326 +name: chronic pulmonary heart disease +xref: ICD9CM:416.8 +xref: SNOMEDCT_US_2015_03_01:194887007 +xref: SNOMEDCT_US_2015_03_01:194889005 +xref: UMLS_CUI:C0155673 +is_a: DOID:8515 ! Cor pulmonale + +[Term] +id: DOID:12328 +name: marasmus +synonym: "Nutritional atrophy" EXACT [MTHICD9_2006:261] +synonym: "Nutritional marasmus" EXACT [SNOMEDCT_2005_07_31:190599003] +synonym: "Nutritional marasmus" EXACT [ICD9CM_2006:261] +synonym: "Nutritional marasmus (disorder)" EXACT [SNOMEDCT_2005_07_31:29740003] +xref: ICD10CM:E41 +xref: ICD9CM:261 +xref: MSH:D011502 +xref: SNOMEDCT_US_2015_03_01:154730001 +xref: SNOMEDCT_US_2015_03_01:190599003 +xref: SNOMEDCT_US_2015_03_01:267495004 +xref: SNOMEDCT_US_2015_03_01:29740003 +xref: UMLS_CUI:C0086588 +is_a: DOID:11801 ! protein-energy malnutrition + +[Term] +id: DOID:1233 +name: transvestism +synonym: "cross dresser" EXACT [CSP2005:4008-0087] +synonym: "Dual-role transvestism" EXACT [SNOMEDCT_2005_07_31:248108005] +synonym: "Fetishistic transvestism (disorder)" EXACT [SNOMEDCT_2005_07_31:63495002] +synonym: "Transvestic fetishism" EXACT [ICD9CM_2006:302.3] +xref: ICD10CM:F64.1 +xref: ICD10CM:F65.1 +xref: ICD9CM:302.3 +xref: MSH:D014190 +xref: NCI:C94359 +xref: SNOMEDCT_US_2015_03_01:154907002 +xref: SNOMEDCT_US_2015_03_01:191780004 +xref: SNOMEDCT_US_2015_03_01:192509002 +xref: SNOMEDCT_US_2015_03_01:248108005 +xref: SNOMEDCT_US_2015_03_01:268763002 +xref: SNOMEDCT_US_2015_03_01:472948001 +xref: SNOMEDCT_US_2015_03_01:472981000 +xref: SNOMEDCT_US_2015_03_01:472989003 +xref: SNOMEDCT_US_2015_03_01:63495002 +xref: UMLS_CUI:C0040774 +is_a: DOID:1235 ! fetishism + +[Term] +id: DOID:12332 +name: hematocele of tunica vaginalis testis +synonym: "Hematocele NOS, male" EXACT [MTHICD9_2006:608.83] +synonym: "male hematocele (disorder)" EXACT [SNOMEDCT_2005_07_31:66259004] +xref: MSH:D006398 +xref: SNOMEDCT_US_2015_03_01:66259004 +xref: UMLS_CUI:C0018931 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:12333 +name: male genital organ stricture +synonym: "male genital organ stricture (disorder)" EXACT [SNOMEDCT_2005_07_31:198064007] +synonym: "male genital organ stricture NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198067000] +synonym: "Stricture of male genital organs" EXACT [ICD9CM_2006:608.85] +xref: ICD9CM:608.85 +xref: SNOMEDCT_US_2015_03_01:198064007 +xref: SNOMEDCT_US_2015_03_01:198067000 +xref: UMLS_CUI:C0156316 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:12335 +name: male genital organ vascular disease +synonym: "male genital organ vascular disease (disorder)" EXACT [SNOMEDCT_2005_07_31:198057005] +synonym: "vascular disorder of male genital organs" EXACT [ICD9CM_2006:608.83] +xref: ICD10CM:N50.1 +xref: ICD9CM:608.83 +xref: SNOMEDCT_US_2015_03_01:198057005 +xref: UMLS_CUI:C0042374 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:12336 +name: male infertility +xref: ICD10CM:N46 +xref: ICD10CM:N46.9 +xref: ICD9CM:606 +xref: ICD9CM:606.9 +xref: MSH:D007248 +xref: SNOMEDCT_US_2015_03_01:155924001 +xref: SNOMEDCT_US_2015_03_01:198018002 +xref: SNOMEDCT_US_2015_03_01:2904007 +xref: UMLS_CUI:C0021364 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:12337 +name: varicocele +synonym: "Scrotal varices" EXACT [ICD9CM_2006:456.4] +xref: ICD10CM:I86.1 +xref: ICD9CM:456.4 +xref: MSH:D014646 +xref: SNOMEDCT_US_2015_03_01:155480003 +xref: SNOMEDCT_US_2015_03_01:195480007 +xref: SNOMEDCT_US_2015_03_01:46871008 +xref: SNOMEDCT_US_2015_03_01:51070004 +xref: UMLS_CUI:C0042341 +is_a: DOID:9742 ! pelvic varices + +[Term] +id: DOID:12338 +name: redundant prepuce and phimosis +is_obsolete: true + +[Term] +id: DOID:12339 +name: retroperitoneal lymphoma +xref: NCI:C7353 +xref: UMLS_CUI:C1335779 +is_a: DOID:5875 ! retroperitoneal cancer + +[Term] +id: DOID:1234 +name: gender identity disorder +alt_id: DOID:10827 +alt_id: DOID:13350 +def: "A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001527.htm] +xref: ICD10CM:F64.2 +xref: ICD9CM:302.6 +xref: ICD9CM:302.8 +xref: ICD9CM:302.85 +xref: ICD9CM:302.89 +xref: SNOMEDCT_US_2015_03_01:5095008 +xref: UMLS_CUI:C0029825 +xref: UMLS_CUI:C0154467 +xref: UMLS_CUI:C0236802 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:12341 +name: retroperitoneal sarcoma +def: "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space." [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/] +synonym: "retroperitoneal sarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:307219002] +xref: NCI:C4832 +xref: SNOMEDCT_US_2015_03_01:307219002 +xref: UMLS_CUI:C0585129 +is_a: DOID:5875 ! retroperitoneal cancer + +[Term] +id: DOID:12342 +name: retroperitoneum carcinoma +synonym: "carcinoma of Retroperitoneum" EXACT [NCI2004_11_17:C7352] +synonym: "carcinoma of the retroperitoneum" RELATED [] +xref: NCI:C7352 +xref: UMLS_CUI:C0948749 +is_a: DOID:5875 ! retroperitoneal cancer + +[Term] +id: DOID:12346 +name: hyperkinetic heart syndrome +synonym: "hyperkinetic heart disease" RELATED [ICD9CM_2006:429.82] +is_obsolete: true + +[Term] +id: DOID:12347 +name: osteogenesis imperfecta +alt_id: DOID:14708 +def: "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." [url:http\://emedicine.medscape.com/article/947588-overview, url:http\://en.wikipedia.org/wiki/Osteogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00051, url:http\://osteogenesisimperfecta.org/, url:http\://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001573.htm, url:http\://www.oif.org/site/PageServer] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "brittle bone disease" EXACT [CSP2005:1849-7175] +synonym: "Fragilitas ossium" RELATED [SNOMEDCT_2005_07_31:157008000] +synonym: "Lobstein's syndrome" EXACT [SNOMEDCT_2005_07_31:205492005] +synonym: "Osteopsathyrosis" EXACT [MTHICD9_2006:756.51] +synonym: "Vrolik's disease" EXACT [SNOMEDCT_2005_07_31:205492005] +xref: ICD10CM:Q78.0 +xref: ICD9CM:756.51 +xref: MSH:D010013 +xref: NCI:C26837 +xref: NCI:C99003 +xref: OMIM:166200 +xref: OMIM:166210 +xref: OMIM:166220 +xref: OMIM:166240 +xref: OMIM:259420 +xref: OMIM:259440 +xref: OMIM:610682 +xref: OMIM:610854 +xref: OMIM:610915 +xref: OMIM:610967 +xref: OMIM:610968 +xref: OMIM:613848 +xref: OMIM:613849 +xref: OMIM:613982 +xref: OMIM:614856 +xref: OMIM:615066 +xref: OMIM:615220 +xref: ORDO:666 +xref: SNOMEDCT_US_2015_03_01:157008000 +xref: SNOMEDCT_US_2015_03_01:205492005 +xref: SNOMEDCT_US_2015_03_01:205493000 +xref: SNOMEDCT_US_2015_03_01:205494006 +xref: SNOMEDCT_US_2015_03_01:205498009 +xref: SNOMEDCT_US_2015_03_01:254105005 +xref: SNOMEDCT_US_2015_03_01:254106006 +xref: SNOMEDCT_US_2015_03_01:254107002 +xref: SNOMEDCT_US_2015_03_01:254108007 +xref: SNOMEDCT_US_2015_03_01:254109004 +xref: SNOMEDCT_US_2015_03_01:268352002 +xref: SNOMEDCT_US_2015_03_01:3508009 +xref: SNOMEDCT_US_2015_03_01:385482004 +xref: SNOMEDCT_US_2015_03_01:78314001 +xref: UMLS_CUI:C0023931 +xref: UMLS_CUI:C0029434 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:12349 +name: primary eye hypotony +synonym: "primary hypotony of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:2251002] +xref: ICD10CM:H44.44 +xref: ICD9CM:360.31 +xref: SNOMEDCT_US_2015_03_01:2251002 +xref: UMLS_CUI:C0154782 +is_a: DOID:790 ! ocular hypotension + +[Term] +id: DOID:1235 +name: fetishism +xref: ICD10CM:F65.0 +xref: ICD9CM:302.81 +xref: MSH:D005329 +xref: NCI:C94353 +xref: SNOMEDCT_US_2015_03_01:192513009 +xref: SNOMEDCT_US_2015_03_01:59174009 +xref: UMLS_CUI:C0015957 +is_a: DOID:0060044 ! paraphilia disorder + +[Term] +id: DOID:12351 +name: alcoholic hepatitis +alt_id: DOID:12350 +synonym: "acute Alcoholic Hepatitis" EXACT [NCI2004_11_17:C34352] +synonym: "acute alcoholic hepatitis" EXACT [ICD9CM_2006:571.1, SNOMEDCT_2005_07_31:155810001] +synonym: "acute alcoholic liver disease" EXACT [] +synonym: "acute alcoholic liver disease (disorder)" EXACT [SNOMEDCT_2005_07_31:9953008] +synonym: "Alcoholic Hepatitis" EXACT [NCI2004_11_17:C34684] +synonym: "Alcoholic hepatitis" EXACT [SNOMEDCT_2005_07_31:197312006] +synonym: "Alcoholic hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235875008] +xref: CSP:1754-6978 +xref: ICD9CM:571.1 +xref: NCI:C34352 +xref: SNOMEDCT_US_2015_03_01:155810001 +xref: SNOMEDCT_US_2015_03_01:9953008 +xref: UMLS_CUI:C0001306 +is_a: DOID:2237 ! hepatitis + +[Term] +id: DOID:12355 +name: prostatocystitis +synonym: "Prostatocystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:67685000] +xref: ICD10CM:N41.3 +xref: ICD9CM:601.3 +xref: SNOMEDCT_US_2015_03_01:67685000 +xref: UMLS_CUI:C0156291 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:12356 +name: bacterial prostatitis +is_obsolete: true + +[Term] +id: DOID:12357 +name: viral labyrinthitis +def: "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur." [url:http\://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false] +synonym: "Epidemic vertigo" EXACT [ICD9CM_2006:078.81] +synonym: "Epidemic vertigo (disorder)" EXACT [SNOMEDCT_2005_07_31:186738001] +synonym: "Epidemic vertigo (finding)" EXACT [SNOMEDCT_2005_07_31:43680000] +synonym: "Viral labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:409711008] +synonym: "Viral labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:34243007] +xref: ICD9CM:386.35 +xref: SNOMEDCT_US_2015_03_01:34243007 +xref: SNOMEDCT_US_2015_03_01:409711008 +xref: UMLS_CUI:C0155508 +is_a: DOID:1468 ! labyrinthitis + +[Term] +id: DOID:12358 +name: patulous eustachian tube +def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false] +synonym: "Patulous Eustachian tube" EXACT [ICD9CM_2006:381.7] +synonym: "Patulous eustachian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:30280005] +xref: ICD10CM:H69.0 +xref: ICD10CM:H69.00 +xref: ICD9CM:381.7 +xref: SNOMEDCT_US_2015_03_01:30280005 +xref: UMLS_CUI:C0155434 +is_a: DOID:9739 ! eustachian tube disease + +[Term] +id: DOID:12359 +name: endocrine exophthalmos +synonym: "Thyroid eye disease with exophthalmos" EXACT [SNOMEDCT_2005_07_31:415717005] +xref: ICD9CM:376.2 +xref: SNOMEDCT_US_2015_03_01:194012006 +xref: SNOMEDCT_US_2015_03_01:276177000 +xref: SNOMEDCT_US_2015_03_01:415717005 +xref: SNOMEDCT_US_2015_03_01:53061005 +xref: UMLS_CUI:C0155264 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:12360 +name: lateral displacement of eye +synonym: "Exophthalmos due to lateral displacement of globe (disorder)" EXACT [SNOMEDCT_2005_07_31:194018005] +synonym: "Lateral displacement of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:48747004] +synonym: "Lateral displacement of globe" EXACT [ICD9CM_2006:376.36] +xref: ICD10CM:H05.21 +xref: ICD9CM:376.36 +xref: SNOMEDCT_US_2015_03_01:48747004 +xref: UMLS_CUI:C0155272 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:12361 +name: Graves' disease +def: "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." [url:http\://en.wikipedia.org/wiki/Graves_disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Basedow's disease" RELATED [SNOMEDCT_2005_07_31:237510004] +synonym: "exophthalmic goiter" EXACT [CSP2005:2928-6602] +synonym: "Grave's disease" EXACT [] +synonym: "Graves disease" EXACT [] +xref: EFO:0004237 +xref: ICD10CM:E05.0 +xref: MSH:D006111 +xref: NCI:C3071 +xref: OMIM:275000 +xref: OMIM:300351 +xref: OMIM:603388 +xref: SNOMEDCT_US_2015_03_01:154655004 +xref: SNOMEDCT_US_2015_03_01:190240002 +xref: SNOMEDCT_US_2015_03_01:237510004 +xref: SNOMEDCT_US_2015_03_01:237823003 +xref: SNOMEDCT_US_2015_03_01:267464006 +xref: SNOMEDCT_US_2015_03_01:353295004 +xref: SNOMEDCT_US_2015_03_01:367367004 +xref: SNOMEDCT_US_2015_03_01:367449005 +xref: SNOMEDCT_US_2015_03_01:38591003 +xref: SNOMEDCT_US_2015_03_01:55807009 +xref: UMLS_CUI:C0018213 +is_a: DOID:0060005 ! autoimmune disease of endocrine system + +[Term] +id: DOID:12362 +name: thyrotoxic exophthalmos +synonym: "Thyrotoxic exophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:19885005] +xref: ICD9CM:376.21 +xref: SNOMEDCT_US_2015_03_01:19885005 +xref: UMLS_CUI:C0155265 +is_a: DOID:12359 ! endocrine exophthalmos + +[Term] +id: DOID:12363 +name: intermittent proptosis +synonym: "Intermittent exophthalmos" EXACT [ICD9CM_2006:376.34] +synonym: "Intermittent exophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:49774006] +xref: ICD10CM:H05.25 +xref: ICD9CM:376.34 +xref: SNOMEDCT_US_2015_03_01:49774006 +xref: UMLS_CUI:C0155270 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:12364 +name: pulsating exophthalmos +synonym: "Pulsating exophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:2284002] +xref: ICD10CM:H05.26 +xref: ICD9CM:376.35 +xref: SNOMEDCT_US_2015_03_01:2284002 +xref: UMLS_CUI:C0155271 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:12365 +name: malaria +alt_id: DOID:12552 +def: "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." [url:http\://en.wikipedia.org/wiki/Malaria, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "induced malaria" EXACT [] +xref: EFO:0001068 +xref: ICD10CM:B54 +xref: ICD9CM:084 +xref: ICD9CM:084.6 +xref: MSH:D008288 +xref: NCI:C34797 +xref: OMIM:609148 +xref: OMIM:611162 +xref: ORDO:673 +xref: SNOMEDCT_US_2015_03_01:105649009 +xref: SNOMEDCT_US_2015_03_01:154374002 +xref: SNOMEDCT_US_2015_03_01:186797008 +xref: SNOMEDCT_US_2015_03_01:187510004 +xref: SNOMEDCT_US_2015_03_01:248437004 +xref: SNOMEDCT_US_2015_03_01:61462000 +xref: UMLS_CUI:C0024530 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:12369 +name: prolapse of urethra +synonym: "Prolapse of urethra (disorder)" EXACT [SNOMEDCT_2005_07_31:12068006] +synonym: "Urethrocele" EXACT [MTHICD9_2006:599.5] +synonym: "Urethrocele" EXACT [ICD9CM_2006:618.03] +synonym: "Urethrocele" EXACT [SNOMEDCT_2005_07_31:197935003] +xref: ICD10CM:N81.0 +xref: ICD9CM:618.03 +xref: SNOMEDCT_US_2015_03_01:12068006 +xref: SNOMEDCT_US_2015_03_01:197935003 +xref: UMLS_CUI:C0238502 +is_a: DOID:1284 ! prolapse of female genital organ +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:1237 +name: corneal degeneration +xref: ICD10CM:H18.4 +xref: ICD10CM:H18.40 +xref: ICD9CM:371.4 +xref: ICD9CM:371.40 +xref: SNOMEDCT_US_2015_03_01:111521006 +xref: SNOMEDCT_US_2015_03_01:193824006 +xref: SNOMEDCT_US_2015_03_01:193830006 +xref: UMLS_CUI:C0155118 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:12375 +name: bronchopneumonia +def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." [url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/two/000014753.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia] +synonym: "bronchial pneumonia" EXACT [] +synonym: "Chest infection - unspecified bronchopneumonia" EXACT [SNOMEDCT_2005_07_31:195914001] +synonym: "lobular pneumonia" EXACT [] +xref: ICD10CM:J18.0 +xref: ICD9CM:485 +xref: MSH:D001996 +xref: NCI:C26710 +xref: SNOMEDCT_US_2015_03_01:155551009 +xref: SNOMEDCT_US_2015_03_01:195914001 +xref: SNOMEDCT_US_2015_03_01:266352008 +xref: SNOMEDCT_US_2015_03_01:396285007 +xref: SNOMEDCT_US_2015_03_01:67814005 +xref: UMLS_CUI:C0006285 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:12376 +name: juvenile spinal muscular atrophy +alt_id: DOID:13161 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Kugelberg-Welander disease" EXACT [ICD9CM_2006:335.11] +synonym: "SMA3" EXACT [SNOMEDCT_2005_07_31:54280009] +synonym: "spinal muscular atrophy of childhood" EXACT [] +synonym: "Spinal muscular atrophy, familial" EXACT [MTHICD9_2006:335.11] +synonym: "Type III Spinal Muscular Atrophy" EXACT [] +xref: ICD9CM:335.11 +xref: MSH:D014897 +xref: NCI:C85076 +xref: OMIM:253400 +xref: SNOMEDCT_US_2015_03_01:54280009 +xref: UMLS_CUI:C0152109 +xref: UMLS_CUI:C0700595 +is_a: DOID:0060160 ! survival motor neuron spinal muscular atrophy + +[Term] +id: DOID:12377 +name: spinal muscular atrophy +def: "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy." [url:http\://en.wikipedia.org/wiki/Spinal_muscular_atrophy, url:http\://www.ncbi.nlm.nih.gov/pubmed/26022173] +xref: ICD10CM:G12.9 +xref: ICD9CM:335.1 +xref: ICD9CM:335.10 +xref: MSH:D009134 +xref: NCI:C85075 +xref: SNOMEDCT_US_2015_03_01:192885003 +xref: SNOMEDCT_US_2015_03_01:192887006 +xref: SNOMEDCT_US_2015_03_01:5262007 +xref: UMLS_CUI:C0026847 +is_a: DOID:231 ! motor neuron disease + +[Term] +id: DOID:12378 +name: predominant psychomotor disturbance +is_obsolete: true + +[Term] +id: DOID:12379 +name: mixed disorder as reaction to stress +is_obsolete: true + +[Term] +id: DOID:1238 +name: acute erythremia and erythroleukemia in remission +is_obsolete: true + +[Term] +id: DOID:12380 +name: predominant disturbance of consciousness +is_obsolete: true + +[Term] +id: DOID:12382 +name: complex partial epilepsy +synonym: "Complex partial epileptic seizure" EXACT [SNOMEDCT_2005_07_31:407675009] +synonym: "epilepsy, psychomotor" EXACT [MTHICD9_2006:345.4] +synonym: "Psychomotor epilepsy" EXACT [SNOMEDCT_2005_07_31:193001003] +synonym: "Psychomotor epilepsy" EXACT [SNOMEDCT_2005_07_31:84340007] +synonym: "Psychomotor epilepsy" EXACT [SNOMEDCT_2005_07_31:307358009] +synonym: "psychomotor epilepsy" EXACT [CSP2005:0485-7151] +synonym: "Psychomotor epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:361123003] +xref: MSH:D017029 +xref: SNOMEDCT_US_2015_03_01:193001003 +xref: SNOMEDCT_US_2015_03_01:307358009 +xref: SNOMEDCT_US_2015_03_01:361123003 +xref: SNOMEDCT_US_2015_03_01:407675009 +xref: SNOMEDCT_US_2015_03_01:84340007 +xref: UMLS_CUI:C0085417 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:12384 +name: dysentery +def: "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea, url:http\://en.wikipedia.org/wiki/Dysentery, url:http\://www.who.int/topics/dysentery/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery] +synonym: "Infectious diarrhea" EXACT [ICD9CM_2006:009.2] +xref: ICD9CM:009.2 +xref: MSH:D004403 +xref: SNOMEDCT_US_2015_03_01:111939009 +xref: SNOMEDCT_US_2015_03_01:154268000 +xref: SNOMEDCT_US_2015_03_01:154279005 +xref: SNOMEDCT_US_2015_03_01:186165000 +xref: SNOMEDCT_US_2015_03_01:186167008 +xref: SNOMEDCT_US_2015_03_01:19213003 +xref: SNOMEDCT_US_2015_03_01:236076004 +xref: SNOMEDCT_US_2015_03_01:266173000 +xref: SNOMEDCT_US_2015_03_01:266180003 +xref: UMLS_CUI:C0013369 +is_a: DOID:100 ! intestinal infectious disease + +[Term] +id: DOID:12385 +name: shigellosis +alt_id: DOID:11378 +alt_id: DOID:12950 +alt_id: DOID:2041 +alt_id: DOID:924 +alt_id: DOID:925 +def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." [url:http\://emedicine.medscape.com/article/182767-overview#a0104, url:http\://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh] +synonym: "bacillary dysentery" EXACT [CSP2005:1248-4621] +synonym: "Shigella boydii infectious disease" EXACT [] +synonym: "Shigella flexneri infectious disease" EXACT [] +synonym: "Shigella gastroenteritis" EXACT [SNOMEDCT_2005_07_31:36188001] +synonym: "Shigella sonnei infectious disease" EXACT [] +xref: ICD10CM:A03 +xref: ICD10CM:A03.0 +xref: ICD10CM:A03.1 +xref: ICD10CM:A03.2 +xref: ICD10CM:A03.9 +xref: ICD9CM:004 +xref: ICD9CM:004.0 +xref: ICD9CM:004.1 +xref: ICD9CM:004.2 +xref: ICD9CM:004.3 +xref: ICD9CM:004.9 +xref: KEGG:05131 +xref: MSH:D004405 +xref: SNOMEDCT_US_2015_03_01:111817006 +xref: SNOMEDCT_US_2015_03_01:154272001 +xref: SNOMEDCT_US_2015_03_01:186104004 +xref: SNOMEDCT_US_2015_03_01:186105003 +xref: SNOMEDCT_US_2015_03_01:186108001 +xref: SNOMEDCT_US_2015_03_01:187272003 +xref: SNOMEDCT_US_2015_03_01:266175007 +xref: SNOMEDCT_US_2015_03_01:34335000 +xref: SNOMEDCT_US_2015_03_01:36188001 +xref: SNOMEDCT_US_2015_03_01:55760004 +xref: SNOMEDCT_US_2015_03_01:66301008 +xref: UMLS_CUI:C0013371 +xref: UMLS_CUI:C0302358 +xref: UMLS_CUI:C0302359 +xref: UMLS_CUI:C0302360 +xref: UMLS_CUI:C0302361 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:12386 +name: balantidiasis +def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." [url:http\://www.ncbi.nlm.nih.gov/pubmed/14760781] +synonym: "Balantidiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:57725006] +synonym: "disease due to Balantidiidae (disorder)" EXACT [SNOMEDCT_2005_07_31:105638003] +xref: ICD10CM:A07.0 +xref: ICD9CM:007.0 +xref: MSH:D001447 +xref: NCI:C84583 +xref: SNOMEDCT_US_2015_03_01:105638003 +xref: SNOMEDCT_US_2015_03_01:57725006 +xref: UMLS_CUI:C0004692 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:12387 +name: nephrogenic diabetes insipidus +def: "An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)." [url:http\://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus, url:http\://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus, url:http\://rarediseases.info.nih.gov/gard/7178/nephrogenic-diabetes-insipidus/resources/1, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/nephrogenic_diabetes_insipidus.html] +comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "vasopressin-resistant diabetes insipidus" RELATED [] +xref: ICD10CM:N25.1 +xref: ICD9CM:588.1 +xref: MSH:D018500 +xref: NCI:C84919 +xref: OMIM:125800 +xref: OMIM:304800 +xref: ORDO:223 +xref: SNOMEDCT_US_2015_03_01:111395007 +xref: SNOMEDCT_US_2015_03_01:123294004 +xref: UMLS_CUI:C0162283 +is_a: DOID:11705 ! impaired renal function disease + +[Term] +id: DOID:12388 +name: neurohypophyseal diabetes insipidus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "central diabetes insipidus" EXACT [SNOMEDCT_2005_07_31:154699008] +synonym: "Pituitary diabetes insipidus" EXACT [SNOMEDCT_2005_07_31:15771004] +synonym: "vasopressin defective diabetes insipidus" EXACT [CSP2005:1849-2602] +synonym: "Vasopressin deficiency" EXACT [SNOMEDCT_2005_07_31:190484000] +xref: MSH:D020790 +xref: NCI:C84933 +xref: OMIM:125700 +xref: OMIM:304900 +xref: SNOMEDCT_US_2015_03_01:154699008 +xref: SNOMEDCT_US_2015_03_01:15771004 +xref: SNOMEDCT_US_2015_03_01:190484000 +xref: SNOMEDCT_US_2015_03_01:267393007 +xref: SNOMEDCT_US_2015_03_01:45369008 +xref: SNOMEDCT_US_2015_03_01:64410003 +xref: UMLS_CUI:C0687720 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:1239 +name: acute erythremia and erythroleukemia +is_obsolete: true + +[Term] +id: DOID:12392 +name: leukemic reticuloendotheliosis involving lymph nodes of head, face and neck +synonym: "Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck" EXACT [ICD9CM_2006:202.41] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188645002] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93148000] +is_obsolete: true + +[Term] +id: DOID:12395 +name: spastic entropion +synonym: "Spastic entropion (disorder)" EXACT [SNOMEDCT_2005_07_31:20828000] +xref: ICD9CM:374.03 +xref: SNOMEDCT_US_2015_03_01:20828000 +xref: UMLS_CUI:C0155190 +is_a: DOID:12397 ! entropion + +[Term] +id: DOID:12396 +name: entropion and trichiasis of eyelid +synonym: "Entropion and trichiasis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:267649003] +synonym: "Entropion or trichiasis of eyelid NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193933009] +is_obsolete: true + +[Term] +id: DOID:12397 +name: entropion +alt_id: DOID:14446 +synonym: "Trichiasis of eyelid without entropion" EXACT [] +xref: ICD9CM:374.00 +xref: MSH:D004774 +xref: SNOMEDCT_US_2015_03_01:155177005 +xref: SNOMEDCT_US_2015_03_01:193928005 +xref: SNOMEDCT_US_2015_03_01:246821008 +xref: SNOMEDCT_US_2015_03_01:33168009 +xref: UMLS_CUI:C0014390 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:12399 +name: pathological gambling +def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life." [url:http\://www.forensicpsychiatry.ca/impulse/gambling.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Compulsive gambling" EXACT [SNOMEDCT_2005_07_31:284524008] +synonym: "Pathological gambling" EXACT [SNOMEDCT_2005_07_31:192501004] +xref: ICD10CM:F63.0 +xref: ICD9CM:312.31 +xref: MSH:D005715 +xref: NCI:C94335 +xref: OMIM:606349 +xref: SNOMEDCT_US_2015_03_01:18085000 +xref: SNOMEDCT_US_2015_03_01:192501004 +xref: SNOMEDCT_US_2015_03_01:284524008 +xref: UMLS_CUI:C0030662 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:1240 +name: leukemia +alt_id: DOID:9145 +def: "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." [url:http\://en.wikipedia.org/wiki/Leukemia, url:http\://www.cancer.gov/dictionary?CdrID=45343] +subset: DO_cancer_slim +xref: ICD10CM:C95 +xref: ICD10CM:C95.9 +xref: ICD10CM:C95.90 +xref: ICD9CM:208 +xref: ICD9CM:208.9 +xref: MSH:D007938 +xref: NCI:C3161 +xref: SNOMEDCT_US_2015_03_01:154598008 +xref: SNOMEDCT_US_2015_03_01:188762002 +xref: SNOMEDCT_US_2015_03_01:188767008 +xref: SNOMEDCT_US_2015_03_01:190024009 +xref: SNOMEDCT_US_2015_03_01:190025005 +xref: SNOMEDCT_US_2015_03_01:190029004 +xref: SNOMEDCT_US_2015_03_01:190071003 +xref: SNOMEDCT_US_2015_03_01:255049003 +xref: SNOMEDCT_US_2015_03_01:87163000 +xref: SNOMEDCT_US_2015_03_01:93143009 +xref: UMLS_CUI:C0023418 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:12400 +name: kleptomania +def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen." [url:http\://www.forensicpsychiatry.ca/impulse/kleptomania.htm] +synonym: "Pathological stealing" EXACT [SNOMEDCT_2005_07_31:192503001] +xref: ICD10CM:F63.2 +xref: ICD9CM:312.32 +xref: MSH:D007174 +xref: NCI:C94333 +xref: SNOMEDCT_US_2015_03_01:154947009 +xref: SNOMEDCT_US_2015_03_01:192503001 +xref: SNOMEDCT_US_2015_03_01:69361009 +xref: UMLS_CUI:C0022734 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:12401 +name: intermittent explosive disorder +alt_id: DOID:9404 +def: "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness." [url:http\://www.forensicpsychiatry.ca/impulse/explosive.htm] +synonym: "explosive personality disorder" EXACT [] +xref: ICD10CM:F60.3 +xref: ICD10CM:F63.81 +xref: ICD9CM:301.3 +xref: ICD9CM:312.34 +xref: MSH:D007174 +xref: NCI:C94332 +xref: SNOMEDCT_US_2015_03_01:191759005 +xref: SNOMEDCT_US_2015_03_01:192096007 +xref: SNOMEDCT_US_2015_03_01:192488005 +xref: SNOMEDCT_US_2015_03_01:231527003 +xref: SNOMEDCT_US_2015_03_01:268757006 +xref: SNOMEDCT_US_2015_03_01:40987004 +xref: UMLS_CUI:C0021776 +xref: UMLS_CUI:C0152183 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:12402 +name: pyromania +def: "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive." [url:http\://www.forensicpsychiatry.ca/impulse/pryromania.htm] +synonym: "firesetting behavior" EXACT [] +synonym: "Pathological firesetting" EXACT [SNOMEDCT_2005_07_31:192502006] +xref: ICD10CM:F63.1 +xref: ICD9CM:312.33 +xref: MSH:D005391 +xref: NCI:C94334 +xref: SNOMEDCT_US_2015_03_01:192502006 +xref: SNOMEDCT_US_2015_03_01:248015004 +xref: SNOMEDCT_US_2015_03_01:600009 +xref: UMLS_CUI:C0016142 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:12403 +name: tinea pedis +def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." [stedman:rlc, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot] +synonym: "Athlete's foot" EXACT [MTHICD9_2006:110.4] +synonym: "Dermatophytosis of foot" EXACT [ICD9CM_2006:110.4] +synonym: "Dermatophytosis of foot (& tinea pedis)" EXACT [SNOMEDCT_2005_07_31:186993002] +synonym: "Dermatophytosis of foot (disorder)" EXACT [SNOMEDCT_2005_07_31:271427009] +synonym: "ringworm of foot" RELATED [] +synonym: "Tinea pedis" EXACT [SNOMEDCT_2005_07_31:154399001] +synonym: "Tinea pedis (disorder)" EXACT [SNOMEDCT_2005_07_31:6020002] +xref: ICD10CM:B35.3 +xref: ICD9CM:110.4 +xref: MSH:D014008 +xref: SNOMEDCT_US_2015_03_01:154399001 +xref: SNOMEDCT_US_2015_03_01:186993002 +xref: SNOMEDCT_US_2015_03_01:271427009 +xref: SNOMEDCT_US_2015_03_01:6020002 +xref: UMLS_CUI:C0040259 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:12404 +name: tinea +def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." [url:http\://emedicine.medscape.com/article/787217-overview] +synonym: "Dermatophytosis-tinea/ringworm" EXACT [SNOMEDCT_2005_07_31:266214005] +synonym: "Microsporic tinea, NOS" EXACT [SNOMEDCT_2005_07_31:47382004] +synonym: "ringworm" EXACT [CSP2005:1988-5318] +is_obsolete: true + +[Term] +id: DOID:1241 +name: luxation of globe +synonym: "Luxation of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:20842008] +xref: ICD10CM:H44.82 +xref: ICD9CM:360.81 +xref: SNOMEDCT_US_2015_03_01:20842008 +xref: UMLS_CUI:C0154806 +is_a: DOID:1242 ! globe disease + +[Term] +id: DOID:12417 +name: psychogenic dysmenorrhea +synonym: "Psychogenic dysmenorrhea" EXACT [SNOMEDCT_2005_07_31:192436003] +synonym: "Psychogenic dysmenorrhea (finding)" EXACT [SNOMEDCT_2005_07_31:191977008] +synonym: "Psychogenic dysmenorrhoea" EXACT [SNOMEDCT_2005_07_31:154924008] +synonym: "Psychogenic dysmenorrhoea" EXACT [SNOMEDCT_2005_07_31:268773000] +is_obsolete: true + +[Term] +id: DOID:1242 +name: globe disease +xref: ICD10CM:H44.39 +xref: ICD9CM:360.29 +xref: SNOMEDCT_US_2015_03_01:194638007 +xref: UMLS_CUI:C0154780 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:12424 +name: thyrocalcitonin secretion disease +synonym: "disorder of thyrocalcitonin secretion" EXACT [ICD9CM_2006:246.0] +synonym: "disorder of thyrocalcitonin secretion (disorder)" EXACT [SNOMEDCT_2005_07_31:190303007] +xref: ICD9CM:246.0 +xref: SNOMEDCT_US_2015_03_01:190303007 +xref: UMLS_CUI:C0701822 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:1243 +name: labia minora cancer +synonym: "malignant neoplasm of labia minora" EXACT [ICD9CM_2006:184.2] +synonym: "malignant neoplasm of labia minora" EXACT [SNOMEDCT_2005_07_31:93851005] +synonym: "malignant neoplasm of labia minora (disorder)" EXACT [SNOMEDCT_2005_07_31:363447008] +synonym: "malignant neoplasm of labium minus" EXACT [MTH:U001388] +synonym: "malignant tumor of Labia Minora" EXACT [NCI2004_11_17:C7637] +xref: ICD10CM:C51.1 +xref: ICD9CM:184.2 +xref: NCI:C7637 +xref: SNOMEDCT_US_2015_03_01:363447008 +xref: SNOMEDCT_US_2015_03_01:93851005 +xref: UMLS_CUI:C0496815 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:12445 +name: conjugate gaze palsy +synonym: "Conjugate gaze palsy [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:194130001] +synonym: "Palsy of conjugate gaze" EXACT [ICD9CM_2006:378.81] +synonym: "Palsy of conjugate gaze (disorder)" EXACT [SNOMEDCT_2005_07_31:1534008] +xref: ICD9CM:378.81 +xref: SNOMEDCT_US_2015_03_01:1534008 +xref: SNOMEDCT_US_2015_03_01:193169002 +xref: SNOMEDCT_US_2015_03_01:194130001 +xref: UMLS_CUI:C0702143 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:12448 +name: hematologic pregnancy complication +is_obsolete: true + +[Term] +id: DOID:12449 +name: aplastic anemia +def: "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." [url:http\://en.wikipedia.org/wiki/Aplastic_anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:D61.9 +xref: ICD9CM:284.9 +xref: MSH:D000741 +xref: NCI:C2870 +xref: OMIM:609135 +xref: SNOMEDCT_US_2015_03_01:154807001 +xref: SNOMEDCT_US_2015_03_01:191233006 +xref: SNOMEDCT_US_2015_03_01:191258001 +xref: SNOMEDCT_US_2015_03_01:267560004 +xref: SNOMEDCT_US_2015_03_01:304132006 +xref: SNOMEDCT_US_2015_03_01:305047005 +xref: SNOMEDCT_US_2015_03_01:306058006 +xref: SNOMEDCT_US_2015_03_01:79000000 +xref: UMLS_CUI:C0002874 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:1245 +name: vulva cancer +alt_id: DOID:1282 +subset: TopNodes_DOcancerslim +synonym: "Ca vulva" EXACT [SNOMEDCT_2005_07_31:269604005] +synonym: "Ca vulva" EXACT [SNOMEDCT_2005_07_31:154535008] +synonym: "malignant neoplasm of vulva unspecified" EXACT [SNOMEDCT_2005_07_31:188214009] +synonym: "malignant neoplasm of vulva unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:269471005] +synonym: "malignant neoplasm of vulva, NOS" EXACT [SNOMEDCT_2005_07_31:94143002] +synonym: "malignant neoplasm of vulva, unspecified" EXACT [ICD9CM_2006:184.4] +synonym: "malignant tumor of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:363367000] +synonym: "malignant Vulvar tumor" EXACT [NCI2004_11_17:C7502] +synonym: "neoplasm of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:126922007] +synonym: "vulval cancer" EXACT [CSP2005:2016-2183] +synonym: "vulval neoplasm" EXACT [CSP2005:2016-2183] +synonym: "vulvar neoplasm" EXACT [] +synonym: "Vulvar tumor" EXACT [NCI2004_11_17:C3443] +xref: ICD10CM:C51 +xref: ICD10CM:C51.9 +xref: ICD9CM:184.4 +xref: MSH:D014846 +xref: NCI:C3443 +xref: NCI:C7502 +xref: SNOMEDCT_US_2015_03_01:126922007 +xref: SNOMEDCT_US_2015_03_01:154535008 +xref: SNOMEDCT_US_2015_03_01:188214009 +xref: SNOMEDCT_US_2015_03_01:269471005 +xref: SNOMEDCT_US_2015_03_01:269604005 +xref: SNOMEDCT_US_2015_03_01:363367000 +xref: SNOMEDCT_US_2015_03_01:94143002 +xref: UMLS_CUI:C0042995 +xref: UMLS_CUI:C0375071 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:12450 +name: pancytopenia +synonym: "Pancytopenia (disorder)" EXACT [SNOMEDCT_2005_07_31:127034005] +synonym: "Pancytopenia NOS" EXACT [SNOMEDCT_2005_07_31:191250008] +synonym: "Pancytopenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267528007] +xref: ICD10CM:D61.81 +xref: ICD9CM:284.1 +xref: MSH:D010198 +xref: NCI:C34889 +xref: NCI:C80693 +xref: SNOMEDCT_US_2015_03_01:127034005 +xref: SNOMEDCT_US_2015_03_01:191250008 +xref: SNOMEDCT_US_2015_03_01:267528007 +xref: UMLS_CUI:C0030312 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:12451 +name: sulfhemoglobinemia +synonym: "Sulfemoglobinemia" EXACT [SNOMEDCT_2005_07_31:191386007] +synonym: "Sulfemoglobinemia" EXACT [SNOMEDCT_2005_07_31:191391008] +synonym: "Sulfhemoglobinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:32117000] +xref: MSH:D013436 +xref: SNOMEDCT_US_2015_03_01:191386007 +xref: SNOMEDCT_US_2015_03_01:191391008 +xref: SNOMEDCT_US_2015_03_01:32117000 +xref: UMLS_CUI:C0038732 +is_a: DOID:620 ! blood protein disease + +[Term] +id: DOID:12465 +name: secondary hyperparathyroidism of renal origin +synonym: "hyperparathyroidism due to renal insufficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:19034001] +synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [ICD9CM_2006:588.81] +synonym: "secondary hyperparathyroidism of renal origin (disorder)" EXACT [SNOMEDCT_2005_07_31:31298003] +xref: ICD10CM:N25.81 +xref: ICD9CM:588.81 +xref: SNOMEDCT_US_2015_03_01:19034001 +xref: SNOMEDCT_US_2015_03_01:31298003 +xref: UMLS_CUI:C0271847 +is_a: DOID:11705 ! impaired renal function disease +is_a: DOID:12466 ! secondary hyperparathyroidism + +[Term] +id: DOID:12466 +name: secondary hyperparathyroidism +synonym: "secondary hyperparathyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:91478007] +synonym: "secondary hyperparathyroidism NOS" EXACT [MTHICD9_2006:588.81] +xref: MSH:D006962 +xref: NCI:C113335 +xref: SNOMEDCT_US_2015_03_01:91478007 +xref: UMLS_CUI:C0020503 +is_a: DOID:13543 ! hyperparathyroidism + +[Term] +id: DOID:1247 +name: blood coagulation disease +alt_id: DOID:13997 +alt_id: DOID:9474 +synonym: "postpartum coagulation defect" EXACT [] +synonym: "postpartum coagulation defect with delivery" EXACT [] +xref: ICD10CM:D68.9 +xref: ICD9CM:286 +xref: MSH:D001778 +xref: NCI:C2902 +xref: SNOMEDCT_US_2015_03_01:127073005 +xref: SNOMEDCT_US_2015_03_01:154815003 +xref: SNOMEDCT_US_2015_03_01:191303002 +xref: SNOMEDCT_US_2015_03_01:267562007 +xref: SNOMEDCT_US_2015_03_01:362970003 +xref: SNOMEDCT_US_2015_03_01:64779008 +xref: UMLS_CUI:C0005779 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:12474 +name: capillariasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] +synonym: "Capillaria infection (disorder)" EXACT [SNOMEDCT_2005_07_31:52979002] +xref: ICD10CM:B81.1 +xref: ICD9CM:127.5 +xref: SNOMEDCT_US_2015_03_01:52979002 +xref: UMLS_CUI:C0006897 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12475 +name: pes anserinus tendinitis or bursitis +xref: ICD9CM:726.61 +xref: UMLS_CUI:C0158314 +is_a: DOID:204 ! enthesopathy + +[Term] +id: DOID:1248 +name: ocular hyperemia +synonym: "Conjunctival hyperemia (finding)" EXACT [SNOMEDCT_2005_07_31:193894004] +synonym: "hyperEMIA eye" EXACT [MTH:NOCODE] +synonym: "hyperemia of conjunctiva" EXACT [ICD9CM_2006:372.71] +synonym: "hyperemia of conjunctiva (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:76849009] +synonym: "Ocular hyperemia (disorder)" EXACT [SNOMEDCT_2005_07_31:359610006] +xref: SNOMEDCT_US_2015_03_01:359610006 +xref: SNOMEDCT_US_2015_03_01:76849009 +xref: UMLS_CUI:C0155169 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:1249 +name: Conjunctival vascular disorder and cysts +synonym: "Conjunctival vascular disorder and cysts (disorder)" EXACT [SNOMEDCT_2005_07_31:193893005] +is_obsolete: true + +[Term] +id: DOID:12491 +name: Vagus nerve disease +synonym: "disorder of pneumogastric [10th] nerve" EXACT [ICD9CM_2006:352.3] +synonym: "disorder of vagal nerve" EXACT [MTHICD9_2006:352.3] +synonym: "disorder of vagus nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:73765005] +synonym: "Vagus nerve disorder" EXACT [NCI2004_11_17:C27591] +xref: ICD10CM:G52.2 +xref: ICD9CM:352.3 +xref: MSH:D020421 +xref: NCI:C27591 +xref: SNOMEDCT_US_2015_03_01:73765005 +xref: UMLS_CUI:C0152179 +is_a: DOID:3418 ! glossopharyngeal nerve disease + +[Term] +id: DOID:125 +name: vagina leiomyoma +synonym: "leiomyoma of vagina" EXACT [NCI2004_11_17:C6373] +xref: NCI:C6373 +xref: UMLS_CUI:C1336939 +is_a: DOID:0060114 ! vaginal benign neoplasm + +[Term] +id: DOID:12506 +name: Bell's palsy +def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." [url:http\://en.wikipedia.org/wiki/Bell%27s_palsy] +synonym: "Bell palsy" EXACT [] +synonym: "Bell's (facial) palsy" EXACT [SNOMEDCT_2005_07_31:267703001] +xref: ICD10CM:G51.0 +xref: ICD9CM:351.0 +xref: MSH:D020330 +xref: SNOMEDCT_US_2015_03_01:155070005 +xref: SNOMEDCT_US_2015_03_01:193093009 +xref: SNOMEDCT_US_2015_03_01:267703001 +xref: SNOMEDCT_US_2015_03_01:79359001 +xref: UMLS_CUI:C0376175 +is_a: DOID:13934 ! facial paralysis + +[Term] +id: DOID:12508 +name: simple type schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:1251 +name: tuberculous epididymitis +def: "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling." [url:http\://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html] +subset: gram-positive_bacterial_infectious_disease +xref: ICD9CM:016.4 +xref: SNOMEDCT_US_2015_03_01:83652003 +xref: UMLS_CUI:C0152814 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:12510 +name: retinal ischemia +synonym: "Retinal ischaemia" EXACT [SNOMEDCT_2005_07_31:193427006] +synonym: "Retinal ischemia (disorder)" EXACT [SNOMEDCT_2005_07_31:26468004] +xref: ICD10CM:H35.82 +xref: ICD9CM:362.84 +xref: SNOMEDCT_US_2015_03_01:193427006 +xref: SNOMEDCT_US_2015_03_01:26468004 +xref: UMLS_CUI:C0162291 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:12514 +name: retinal perforation +synonym: "Retinal break" EXACT [SNOMEDCT_2005_07_31:193343003] +synonym: "Retinal break" EXACT [SNOMEDCT_2005_07_31:155104004] +synonym: "Retinal breaks NOS" EXACT [MTHICD9_2006:361.30] +synonym: "Retinal dialysis (disorder)" EXACT [SNOMEDCT_2005_07_31:232003005] +synonym: "Retinal tear" EXACT [SNOMEDCT_2005_07_31:40024006] +synonym: "Retinal tear (disorder)" EXACT [SNOMEDCT_2005_07_31:95690009] +synonym: "Retinal tears" EXACT [SNOMEDCT_2005_07_31:193317004] +xref: MSH:D012167 +xref: NCI:C50732 +xref: SNOMEDCT_US_2015_03_01:155104004 +xref: SNOMEDCT_US_2015_03_01:193317004 +xref: SNOMEDCT_US_2015_03_01:193343003 +xref: SNOMEDCT_US_2015_03_01:232003005 +xref: SNOMEDCT_US_2015_03_01:302888003 +xref: SNOMEDCT_US_2015_03_01:40024006 +xref: SNOMEDCT_US_2015_03_01:95690009 +xref: UMLS_CUI:C0035321 +is_a: DOID:5327 ! retinal detachment + +[Term] +id: DOID:1252 +name: trichuriasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." [url:http\://en.wikipedia.org/wiki/Trichuriasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm] +synonym: "Infection by Trichuris trichura" EXACT [SNOMEDCT_2005_07_31:60570001] +synonym: "Trichuriasis" EXACT [SNOMEDCT_2005_07_31:154413002] +synonym: "Trichuriasis (disorder)" EXACT [SNOMEDCT_2005_07_31:3752003] +synonym: "Trichuriasis infection" EXACT [ICD9CM_2006:127.3] +synonym: "trichuris trichiura infection" EXACT [] +synonym: "Whipworm disease" EXACT [MTHICD9_2006:127.3] +xref: ICD10CM:B79 +xref: ICD9CM:127.3 +xref: MSH:D014257 +xref: SNOMEDCT_US_2015_03_01:154413002 +xref: SNOMEDCT_US_2015_03_01:3752003 +xref: SNOMEDCT_US_2015_03_01:60570001 +xref: UMLS_CUI:C0040954 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12522 +name: bagassosis +def: "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/medical/bagassosis] +synonym: "Bagassosis (disorder)" EXACT [SNOMEDCT_2005_07_31:67242002] +synonym: "sugar cane worker pneumonitis" EXACT [CSP2005:2596-6673] +xref: ICD10CM:J67.1 +xref: ICD9CM:495.1 +xref: MSH:D011009 +xref: NCI:C34409 +xref: SNOMEDCT_US_2015_03_01:67242002 +xref: UMLS_CUI:C0004681 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:12524 +name: plantar nerve lesion +synonym: "Lesion of plantar nerve" EXACT [ICD9CM_2006:355.6] +synonym: "Lesion of plantar nerve, NOS" EXACT [SNOMEDCT_2005_07_31:60525009] +synonym: "Plantar nerve lesion (disorder)" EXACT [SNOMEDCT_2005_07_31:193148004] +synonym: "Plantar nerve lesion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193151006] +xref: ICD10CM:G57.6 +xref: ICD10CM:G57.60 +xref: ICD9CM:355.6 +xref: SNOMEDCT_US_2015_03_01:193148004 +xref: SNOMEDCT_US_2015_03_01:193151006 +xref: SNOMEDCT_US_2015_03_01:60525009 +xref: UMLS_CUI:C0154752 +is_a: DOID:9473 ! mononeuritis of lower limb + +[Term] +id: DOID:12525 +name: Lateral cutaneous femoral nerve of thigh compression or syndrome +synonym: "Meralgia paraesthetica" EXACT [SNOMEDCT_2005_07_31:155076004] +synonym: "Meralgia paresthetica" EXACT [ICD9CM_2006:355.1] +synonym: "Meralgia paresthetica (disorder)" EXACT [SNOMEDCT_2005_07_31:85007004] +is_obsolete: true + +[Term] +id: DOID:12526 +name: tarsal tunnel syndrome +xref: ICD10CM:G57.5 +xref: ICD10CM:G57.50 +xref: ICD9CM:355.5 +xref: MSH:D013641 +xref: NCI:C85183 +xref: SNOMEDCT_US_2015_03_01:155077008 +xref: SNOMEDCT_US_2015_03_01:47374004 +xref: UMLS_CUI:C0039319 +is_a: DOID:1187 ! tibial neuropathy + +[Term] +id: DOID:12527 +name: common peroneal nerve lesion +synonym: "Lesion of common peroneal nerve" EXACT [SNOMEDCT_2005_07_31:399107008] +synonym: "Lesion of common peroneal nerve" EXACT [SNOMEDCT_2005_07_31:55740007] +synonym: "Lesion of common peroneal nerve" EXACT [MTHICD9_2006:355.3] +synonym: "Lesion of common peroneal nerve, NOS" EXACT [SNOMEDCT_2005_07_31:16006009] +synonym: "Lesion of lateral popliteal nerve" EXACT [ICD9CM_2006:355.3] +xref: ICD10CM:G57.3 +xref: ICD10CM:G57.30 +xref: ICD9CM:355.3 +xref: SNOMEDCT_US_2015_03_01:16006009 +xref: SNOMEDCT_US_2015_03_01:399107008 +xref: SNOMEDCT_US_2015_03_01:55740007 +xref: UMLS_CUI:C0270909 +is_a: DOID:9473 ! mononeuritis of lower limb + +[Term] +id: DOID:12528 +name: lesion of sciatic nerve +synonym: "Lesion of sciatic nerve" EXACT [ICD9CM_2006:355.0] +synonym: "Lesion of sciatic nerve, NOS" EXACT [SNOMEDCT_2005_07_31:52585001] +synonym: "Sciatic nerve lesion (disorder)" EXACT [SNOMEDCT_2005_07_31:367137004] +synonym: "Sciatic nerve lesion [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193144002] +xref: ICD10CM:G57.0 +xref: ICD10CM:G57.00 +xref: ICD9CM:355.0 +xref: MSH:D020426 +xref: SNOMEDCT_US_2015_03_01:193144002 +xref: SNOMEDCT_US_2015_03_01:367137004 +xref: SNOMEDCT_US_2015_03_01:52585001 +xref: UMLS_CUI:C0154748 +is_a: DOID:9473 ! mononeuritis of lower limb + +[Term] +id: DOID:12529 +name: tibial nerve palsy +synonym: "Tibial nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:365258000] +xref: SNOMEDCT_US_2015_03_01:359842002 +xref: SNOMEDCT_US_2015_03_01:365258000 +xref: UMLS_CUI:C0154751 +is_a: DOID:9473 ! mononeuritis of lower limb + +[Term] +id: DOID:1253 +name: Enoplea infectious disease +def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." [url:http\://en.wikipedia.org/wiki/Enoplia, url:http\://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm] +synonym: "enoplida infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12531 +name: von Willebrand's disease +def: "A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion." [url:http\://en.wikipedia.org/wiki/Von_Willebrand_disease, url:http\://ghr.nlm.nih.gov/condition/von-willebrand-disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "vascular hemophilia" EXACT [CSP2005:0438-9190] +synonym: "vascular pseudohemophilia" EXACT [MTHICD9_2006:287.8] +synonym: "von Willebrand disease" EXACT [] +synonym: "von Willebrand disorder" EXACT [SNOMEDCT_2005_07_31:128105004] +synonym: "von Willebrand's-Jurgens' disease" EXACT [MTHICD9_2006:286.4] +synonym: "von Willebrand-Jrgens disease" EXACT [SNOMEDCT_2005_07_31:11093006] +xref: ICD10CM:D68.0 +xref: ICD10CM:D69.8 +xref: ICD9CM:286.4 +xref: MSH:D014842 +xref: NCI:C68677 +xref: OMIM:193400 +xref: OMIM:277480 +xref: OMIM:613554 +xref: SNOMEDCT_US_2015_03_01:11093006 +xref: SNOMEDCT_US_2015_03_01:128105004 +xref: SNOMEDCT_US_2015_03_01:154819009 +xref: UMLS_CUI:C0042974 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:12537 +name: hypermobility of coccyx +synonym: "Coccygeal hypermobility syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:247367007] +synonym: "hypermobility of coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:22903002] +synonym: "hypermobility of the coccyx (disorder)" EXACT [SNOMEDCT_2005_07_31:202809009] +xref: ICD9CM:724.71 +xref: SNOMEDCT_US_2015_03_01:202809009 +xref: SNOMEDCT_US_2015_03_01:22903002 +xref: SNOMEDCT_US_2015_03_01:247367007 +xref: UMLS_CUI:C0158295 +is_a: DOID:1123 ! spondyloarthropathy + +[Term] +id: DOID:12538 +name: Chlamydia trachomatis pharyngitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "venereal disease of pharynx due to Chlamydia trachomatis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12539 +name: Chlamydia trachomatis proctitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Chlamydial infection of anus and rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:186731007] +synonym: "Venereal disease of the anus and rectum due to Chlamydia trachomatis" EXACT [ICD9CM_2006:099.52] +is_obsolete: true + +[Term] +id: DOID:1254 +name: trichostrongylosis +def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm] +synonym: "Infection by Trichostrongylus" EXACT [SNOMEDCT_2005_07_31:33710003] +synonym: "Infection by Trichostrongylus species" EXACT [MTHICD9_2006:127.6] +synonym: "Trichostrongyliasis" EXACT [ICD9CM_2006:127.6] +xref: ICD10CM:B81.2 +xref: ICD9CM:127.6 +xref: MSH:D014253 +xref: SNOMEDCT_US_2015_03_01:33710003 +xref: UMLS_CUI:C0040948 +is_a: DOID:1255 ! trichostrongyloidiasis + +[Term] +id: DOID:12541 +name: catatonic type schizophrenia subchronic state +is_obsolete: true + +[Term] +id: DOID:12542 +name: catatonic type schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:12543 +name: catatonic type schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:12546 +name: atrophic nonflaccid tympanic membrane +synonym: "atrophic nonflaccid tympanic membrane (disorder)" EXACT [SNOMEDCT_2005_07_31:72052003] +xref: ICD10CM:H73.82 +xref: ICD9CM:384.82 +xref: SNOMEDCT_US_2015_03_01:194323000 +xref: SNOMEDCT_US_2015_03_01:72052003 +xref: UMLS_CUI:C0155471 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:12549 +name: hepatitis A +alt_id: DOID:12547 +def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HAV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] +synonym: "Viral hepatitis A" RELATED [] +synonym: "Viral hepatitis, type A (disorder)" EXACT [SNOMEDCT_2005_07_31:40468003] +xref: MSH:D006506 +xref: NCI:C3096 +xref: SNOMEDCT_US_2015_03_01:154347003 +xref: SNOMEDCT_US_2015_03_01:40468003 +xref: UMLS_CUI:C0019159 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:1255 +name: trichostrongyloidiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." [url:http\://en.wikipedia.org/wiki/Strongylida] +xref: MSH:D014252 +xref: UMLS_CUI:C0040947 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12550 +name: hepatic coma +synonym: "Hepatocerebral intoxication" EXACT [MTHICD9_2006:572.2] +xref: ICD10CM:K72.91 +xref: MSH:D006501 +xref: SNOMEDCT_US_2015_03_01:155820006 +xref: SNOMEDCT_US_2015_03_01:197332007 +xref: SNOMEDCT_US_2015_03_01:72836002 +xref: UMLS_CUI:C0019147 +is_a: DOID:13413 ! hepatic encephalopathy + +[Term] +id: DOID:12551 +name: Escherichia coli septicemia +subset: gram-negative_bacterial_infectious_disease +synonym: "Septicemia due to E. Coli (disorder)" EXACT [SNOMEDCT_2005_07_31:9323009] +synonym: "Septicemia due to escherichia coli" EXACT [MTHICD9_2006:038.42] +synonym: "Septicemia due to escherichia coli [E. coli]" EXACT [ICD9CM_2006:038.42] +is_obsolete: true + +[Term] +id: DOID:12554 +name: hemolytic-uremic syndrome +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "haemolytic-uraemic syndrome" EXACT [] +synonym: "hemolytic uremic syndrome" EXACT [CSP2005:0427-1005] +xref: ICD10CM:D59.3 +xref: ICD9CM:283.11 +xref: MSH:D006463 +xref: NCI:C75545 +xref: OMIM:235400 +xref: OMIM:612922 +xref: OMIM:612923 +xref: OMIM:612924 +xref: OMIM:612925 +xref: OMIM:612926 +xref: ORDO:2134 +xref: SNOMEDCT_US_2015_03_01:111407006 +xref: SNOMEDCT_US_2015_03_01:123308008 +xref: UMLS_CUI:C0019061 +is_a: DOID:583 ! hemolytic anemia + +[Term] +id: DOID:12555 +name: acute renal failure with lesion of renal cortical necrosis +is_obsolete: true + +[Term] +id: DOID:12556 +name: acute kidney tubular necrosis +synonym: "acute renal failure with lesion of tubular necrosis" EXACT [ICD9CM_2006:584.5] +synonym: "acute renal Failure with tubular necrosis" EXACT [NCI2004_11_17:C34749] +synonym: "acute renal failure with tubular necrosis" EXACT [MTHICD9_2006:584.5] +synonym: "acute tubular necrosis" EXACT [CSP2005:1682-2833] +synonym: "acute tubular necrosis" EXACT [SNOMEDCT_2005_07_31:197649009] +synonym: "acute tubule necrosis" EXACT [SNOMEDCT_2005_07_31:35455006] +synonym: "ATN - acute tubular necrosis" EXACT [SNOMEDCT_2005_07_31:23697004] +xref: ICD10CM:N17.0 +xref: MSH:D007683 +xref: NCI:C34749 +xref: SNOMEDCT_US_2015_03_01:197649009 +xref: SNOMEDCT_US_2015_03_01:23697004 +xref: SNOMEDCT_US_2015_03_01:35455006 +xref: UMLS_CUI:C0022672 +is_a: DOID:3021 ! acute kidney failure + +[Term] +id: DOID:12557 +name: Duane retraction syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Duane's syndrome" EXACT [ICD9CM_2006:378.71] +synonym: "Stilling-Turk-Duane syndrome" EXACT [SNOMEDCT_2005_07_31:60318001] +xref: ICD10CM:H50.81 +xref: ICD9CM:378.71 +xref: MSH:D004370 +xref: NCI:C84678 +xref: OMIM:126800 +xref: OMIM:604356 +xref: SNOMEDCT_US_2015_03_01:60318001 +xref: UMLS_CUI:C0013261 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:12558 +name: chronic progressive external ophthalmoplegia +synonym: "chronic progressive external ophthalmoplegia [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:194034008] +synonym: "progressive external ophthalmoplegia" EXACT [ICD9CM_2006:378.72] +synonym: "progressive external ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:46252003] +xref: ICD10CM:H49.4 +xref: ICD9CM:378.72 +xref: MSH:D017246 +xref: SNOMEDCT_US_2015_03_01:194034008 +xref: SNOMEDCT_US_2015_03_01:194126004 +xref: SNOMEDCT_US_2015_03_01:46252003 +xref: UMLS_CUI:C0162674 +is_a: DOID:699 ! mitochondrial myopathy + +[Term] +id: DOID:12559 +name: idiopathic juvenile osteoporosis +def: "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." [url:http\://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193] +synonym: "Idiopathic osteoporosis (disorder)" EXACT [SNOMEDCT_2005_07_31:3345002] +synonym: "juvenile osteoporosis" EXACT [] +xref: ICD9CM:733.02 +xref: OMIM:259750 +xref: SNOMEDCT_US_2015_03_01:3345002 +xref: UMLS_CUI:C0158447 +is_a: DOID:11476 ! osteoporosis + +[Term] +id: DOID:12566 +name: ulceration of vulva +synonym: "Ulceration of vulva associated with another disease (disorder)" EXACT [SNOMEDCT_2005_07_31:86533009] +synonym: "Ulceration of vulva in disease classified elsewhere" EXACT [ICD9CM_2006:616.51] +synonym: "Ulceration of vulva in disease EC (disorder)" EXACT [SNOMEDCT_2005_07_31:198230004] +xref: ICD10CM:N77.0 +xref: ICD9CM:616.51 +xref: SNOMEDCT_US_2015_03_01:198230004 +xref: SNOMEDCT_US_2015_03_01:86533009 +xref: UMLS_CUI:C0156340 +is_a: DOID:2059 ! vulvar disease + +[Term] +id: DOID:12568 +name: dyscalculia +def: "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page." [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] +synonym: "disorder of arithmetical skills" EXACT [SNOMEDCT_2005_07_31:47916000] +synonym: "Mathematics disorder" EXACT [ICD9CM_2006:315.1] +is_a: DOID:8927 ! learning disability + +[Term] +id: DOID:12569 +name: Chagas cardiomyopathy +alt_id: DOID:0050017 +alt_id: DOID:0050018 +def: "A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death." [url:http\://en.wikipedia.org/wiki/Chagas_disease] +subset: zoonotic_infectious_disease +synonym: "acute chagas' disease with heart involvement" EXACT [] +synonym: "Cardiovascular Trypanosomiasis" EXACT [NCI2004_11_17:C34462] +synonym: "Chagas' cardiomyopathy" EXACT [] +synonym: "Chagas' disease cardiomyopathy" EXACT [SNOMEDCT_2005_07_31:186812009] +synonym: "Chagas' disease with heart involvement" EXACT [ICD9CM_2006:086.0] +synonym: "Chagas' disease with heart involvement (disorder)" EXACT [SNOMEDCT_2005_07_31:998008] +synonym: "chronic chagas' disease with heart involvement" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1257 +name: Transient hypertension of pregnancy +alt_id: DOID:1256 +alt_id: DOID:12946 +alt_id: DOID:2259 +synonym: "antepartum transient hypertension of pregnancy" EXACT [] +synonym: "postpartum transient hypertension of pregnancy" EXACT [] +synonym: "Transient hypertension of pregnancy, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12570 +name: phacolytic glaucoma +synonym: "Phacolytic glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:32893002] +xref: ICD9CM:365.51 +xref: SNOMEDCT_US_2015_03_01:32893002 +xref: UMLS_CUI:C0152137 +is_a: DOID:12571 ! phacogenic glaucoma + +[Term] +id: DOID:12571 +name: phacogenic glaucoma +xref: ICD9CM:365.59 +xref: SNOMEDCT_US_2015_03_01:84333006 +xref: UMLS_CUI:C0154959 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:12573 +name: neonatal thyrotoxicosis +synonym: "Neonatal thyrotoxicosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13795004] +xref: ICD10CM:P72.1 +xref: ICD9CM:775.3 +xref: SNOMEDCT_US_2015_03_01:13795004 +xref: UMLS_CUI:C0158983 +is_a: DOID:7997 ! thyrotoxicosis + +[Term] +id: DOID:12574 +name: posterior uveitis +synonym: "Posterior Uveitis" EXACT [NCI2004_11_17:C35111] +synonym: "Posterior uveitis" EXACT [SNOMEDCT_2005_07_31:46627006] +synonym: "Posterior uveitis (disorder)" EXACT [SNOMEDCT_2005_07_31:43363007] +synonym: "Posterior uveitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193451001] +synonym: "Uveitis, posterior NOS" EXACT [MTHICD9_2006:363.20] +xref: MSH:D015866 +xref: NCI:C35111 +xref: SNOMEDCT_US_2015_03_01:193451001 +xref: SNOMEDCT_US_2015_03_01:43363007 +xref: SNOMEDCT_US_2015_03_01:46627006 +xref: UMLS_CUI:C0042167 +is_a: DOID:12030 ! panuveitis + +[Term] +id: DOID:12577 +name: urethral obstruction +synonym: "Obstruction of urethra (disorder)" EXACT [SNOMEDCT_2005_07_31:95588004] +xref: MSH:D014524 +xref: NCI:C79804 +xref: SNOMEDCT_US_2015_03_01:95588004 +xref: UMLS_CUI:C0041972 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:12580 +name: Cri-Du-Chat syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "5p deletion syndrome" EXACT [NCI2004_11_17:C34518] +synonym: "5p partial monosomy syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:70173007] +synonym: "chromosome 5 short arm deletion syndrome" EXACT [CSP2005:1254-8011] +synonym: "chromosome 5p deletion syndrome" EXACT [MTHICD9_2006:758.31] +synonym: "Cri-du-chat syndrome" EXACT [ICD9CM_2006:758.31] +xref: ICD10CM:Q93.4 +xref: ICD9CM:758.31 +xref: MSH:D003410 +xref: NCI:C34518 +xref: OMIM:123450 +xref: SNOMEDCT_US_2015_03_01:70173007 +xref: UMLS_CUI:C0010314 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:12581 +name: olecranon bursitis +synonym: "Bursitis of elbow" EXACT [MTHICD9_2006:726.33] +synonym: "Bursitis of elbow region" EXACT [SNOMEDCT_2005_07_31:239968000] +synonym: "Capped elbow (disorder)" EXACT [SNOMEDCT_2005_07_31:74859007] +synonym: "Elbow bursitis (& olecranon)" EXACT [SNOMEDCT_2005_07_31:270542002] +synonym: "Elbow bursitis (& olecranon)" EXACT [SNOMEDCT_2005_07_31:156680002] +synonym: "Miner's elbow (disorder)" EXACT [SNOMEDCT_2005_07_31:63517006] +synonym: "Miners' elbow" EXACT [MTHICD9_2006:727.2] +synonym: "Shoe boil" EXACT [SNOMEDCT_2005_07_31:77299006] +xref: ICD10CM:M70.2 +xref: ICD9CM:726.33 +xref: SNOMEDCT_US_2015_03_01:156680002 +xref: SNOMEDCT_US_2015_03_01:202930004 +xref: SNOMEDCT_US_2015_03_01:239968000 +xref: SNOMEDCT_US_2015_03_01:270542002 +xref: SNOMEDCT_US_2015_03_01:424548006 +xref: SNOMEDCT_US_2015_03_01:425940002 +xref: SNOMEDCT_US_2015_03_01:63517006 +xref: SNOMEDCT_US_2015_03_01:74859007 +xref: SNOMEDCT_US_2015_03_01:77299006 +xref: UMLS_CUI:C0263962 +is_a: DOID:12223 ! specific bursitis often of occupational origin +is_a: DOID:204 ! enthesopathy + +[Term] +id: DOID:12582 +name: enthesopathy of elbow +is_obsolete: true + +[Term] +id: DOID:12583 +name: velocardiofacial syndrome +def: "A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=PMID%3A+19243607] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "22q11 Deletion Syndrome" EXACT [] +synonym: "deletion 22q11.2 syndrome" EXACT [MTHICD9_2006:758.32] +synonym: "Shprintzen syndrome" EXACT [ICD9CM_2006:758.32] +synonym: "VCF-Velocardiofacial syndrome" EXACT [SNOMEDCT_2005_07_31:83092002] +xref: ICD10CM:Q93.81 +xref: ICD9CM:758.32 +xref: MSH:D004062 +xref: OMIM:192430 +xref: SNOMEDCT_US_2015_03_01:205642004 +xref: SNOMEDCT_US_2015_03_01:83092002 +xref: UMLS_CUI:C0220704 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:12584 +name: Diabetes mellitus of mother, with delivery +synonym: "Diabetes mellitus during pregnancy - baby delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199225007] +is_obsolete: true + +[Term] +id: DOID:12594 +name: Potter's syndrome +def: "An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus." [url:http\://en.wikipedia.org/wiki/Potter_Syndrome] +synonym: "Oligohydramnios sequence (disorder)" EXACT [SNOMEDCT_2005_07_31:41962002] +synonym: "Potter syndrome" EXACT [] +xref: SNOMEDCT_US_2015_03_01:41962002 +xref: UMLS_CUI:C0178426 +is_a: DOID:12215 ! oligohydramnios + +[Term] +id: DOID:1260 +name: parametritis +synonym: "pelvic cellulitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198165006] +xref: MSH:D010249 +xref: SNOMEDCT_US_2015_03_01:198164005 +xref: SNOMEDCT_US_2015_03_01:198165006 +xref: SNOMEDCT_US_2015_03_01:280483007 +xref: SNOMEDCT_US_2015_03_01:37518008 +xref: UMLS_CUI:C0030455 +is_a: DOID:1003 ! pelvic inflammatory disease + +[Term] +id: DOID:12603 +name: acute leukemia +alt_id: DOID:12621 +def: "A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia." [url:http\://en.wikipedia.org/wiki/Acute_leukemia, url:http\://www.merck.com/mmpe/sec11/ch142/ch142b.html] +synonym: "Stem cell leukaemia" EXACT [SNOMEDCT_2005_07_31:24072005] +synonym: "Stem cell Leukemia" EXACT [NCI2004_11_17:C9298] +xref: ICD10CM:C95.0 +xref: ICD10CM:C95.00 +xref: ICD9CM:208.0 +xref: NCI2009_04D:C9298 +xref: NCI:C9300 +xref: OMIM:308960 +xref: SNOMEDCT_US_2015_03_01:154599000 +xref: SNOMEDCT_US_2015_03_01:188763007 +xref: SNOMEDCT_US_2015_03_01:24072005 +xref: SNOMEDCT_US_2015_03_01:91855006 +xref: UMLS_CUI:C0085669 +xref: UMLS_CUI:C1378511 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:12604 +name: secondary malignant neoplasm of suprarenal gland +synonym: "secondary malignant neoplasm of adrenal gland" EXACT [ICD9CM_2006:198.7] +synonym: "secondary malignant neoplasm of adrenal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:94161006] +is_obsolete: true + +[Term] +id: DOID:12605 +name: metastasis to adrenals +synonym: "metastatic tumor to the Adrenals" EXACT [NCI2004_11_17:C8610] +is_obsolete: true + +[Term] +id: DOID:12608 +name: staphylococcal pneumonia +alt_id: DOID:12607 +def: "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13542104] +subset: gram-positive_bacterial_infectious_disease +synonym: "pneumonia due to staphylococcus aureus" EXACT [] +synonym: "Staphylococcus aureus pneumonia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1261 +name: AIDS-related pelvic inflammatory disease +is_obsolete: true + +[Term] +id: DOID:12610 +name: adrenal hemorrhage of fetus or newborn +is_obsolete: true + +[Term] +id: DOID:12612 +name: gastrointestinal hemorrhage of fetus or newborn +is_obsolete: true + +[Term] +id: DOID:12633 +name: cervicofacial actinomycosis +def: "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." [url:http\://emedicine.medscape.com/article/211587-overview, url:http\://www.scipub.org/fulltext/ajid/ajid43204-208.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Cervicofacial actinomycotic infection" EXACT [ICD9CM_2006:039.3] +synonym: "Lumpy jaw" EXACT [SNOMEDCT_2005_07_31:398697005] +is_obsolete: true + +[Term] +id: DOID:12634 +name: cerebral actinomycosis +def: "An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess." [url:http\://journals.lww.com/smajournalonline/Citation/1965/02000/Cerebral_Abscess_due_to_Actinomyces_Israeli.18.aspx, url:http\://www.ncbi.nlm.nih.gov/pubmed/18603353] +subset: gram-positive_bacterial_infectious_disease +synonym: "Actinomycotic brain abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:230209006] +synonym: "Actinomycotic Cerebral abscess" EXACT [NCI2004_11_17:C27100] +synonym: "cerebral actinomycoma" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12637 +name: perineocele +xref: ICD10CM:N81.81 +xref: ICD9CM:618.05 +xref: UMLS_CUI:C1456251 +is_a: DOID:1284 ! prolapse of female genital organ + +[Term] +id: DOID:12638 +name: hypertrophic pyloric stenosis +def: "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting." [url:http\://en.wikipedia.org/wiki/Pyloric_stenosis] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "congenital hypertrophic pyloric stenosis" EXACT [] +synonym: "congenital or infantile stricture of pylorus" EXACT [MTHICD9_2006:750.5] +xref: ICD10CM:Q40.0 +xref: ICD9CM:750.5 +xref: MSH:D046248 +xref: NCI:C98952 +xref: OMIM:179010 +xref: OMIM:300711 +xref: OMIM:610260 +xref: OMIM:612017 +xref: OMIM:612525 +xref: SNOMEDCT_US_2015_03_01:48644003 +xref: UMLS_CUI:C0700639 +is_a: DOID:12639 ! pyloric stenosis + +[Term] +id: DOID:12639 +name: pyloric stenosis +xref: ICD10CM:K31.1 +xref: MSH:D011707 +xref: NCI:C34966 +xref: SNOMEDCT_US_2015_03_01:367403001 +xref: UMLS_CUI:C0034194 +is_a: DOID:3122 ! gastric outlet obstruction + +[Term] +id: DOID:12641 +name: displacement of cardia through esophageal hiatus +synonym: "Congenital hiatus hernia" EXACT [ICD9CM_2006:750.6] +synonym: "Congenital hiatus hernia (disorder)" EXACT [SNOMEDCT_2005_07_31:47028006] +xref: ICD10CM:Q40.1 +xref: ICD9CM:750.6 +xref: SNOMEDCT_US_2015_03_01:47028006 +xref: UMLS_CUI:C0158674 +is_a: DOID:12642 ! hiatus hernia + +[Term] +id: DOID:12642 +name: hiatus hernia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Diaphragmatic - hiatus -hernia" EXACT [SNOMEDCT_2005_07_31:155748004] +synonym: "Diaphragmatic - hiatus -hernia" EXACT [SNOMEDCT_2005_07_31:266511003] +synonym: "hiatal hernia" EXACT [CSP2005:0944-5779] +synonym: "hiatal hernia" EXACT [CSP2005:1250-7954] +synonym: "hiatal hernia" EXACT [CSP2005:1248-5846] +synonym: "Hiatal hernia (disorder)" EXACT [SNOMEDCT_2005_07_31:84089009] +synonym: "Hiatus hernia" EXACT [SNOMEDCT_2005_07_31:196901006] +xref: ICD10CM:K44 +xref: MSH:D006551 +xref: NCI:C98945 +xref: OMIM:142400 +xref: SNOMEDCT_US_2015_03_01:155748004 +xref: SNOMEDCT_US_2015_03_01:196901006 +xref: SNOMEDCT_US_2015_03_01:196910003 +xref: SNOMEDCT_US_2015_03_01:196914007 +xref: SNOMEDCT_US_2015_03_01:236053002 +xref: SNOMEDCT_US_2015_03_01:266511003 +xref: SNOMEDCT_US_2015_03_01:309811003 +xref: SNOMEDCT_US_2015_03_01:3662000 +xref: SNOMEDCT_US_2015_03_01:84089009 +xref: UMLS_CUI:C0267725 +xref: UMLS_CUI:C0376710 +xref: UMLS_CUI:C3489393 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:12647 +name: Congenital or acquired abnormality of vulva, with delivery +is_obsolete: true + +[Term] +id: DOID:1265 +name: genitourinary cancer +def: "An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs." [url:http\://en.wikipedia.org/wiki/Genitourinary_system, url:http\://en.wikipedia.org/wiki/Urogenital_neoplasm] +is_obsolete: true + +[Term] +id: DOID:12651 +name: disorder of optic chiasm associated with inflammatory disorder +is_obsolete: true + +[Term] +id: DOID:12657 +name: vestibulocochlear nerve disease +synonym: "Acoustic nerve disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194402005] +synonym: "disorder of acoustic nerve" EXACT [ICD9CM_2006:388.5] +synonym: "disorder of acoustic nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:77949003] +synonym: "disorder of acoustic or eighth nerve" EXACT [MTHICD9_2006:388.5] +synonym: "Vestibulocochlear nerve disorder" EXACT [NCI2004_11_17:C27207] +xref: ICD10CM:H93.3 +xref: ICD10CM:H93.3X +xref: ICD9CM:388.5 +xref: MSH:D000160 +xref: NCI:C27207 +xref: SNOMEDCT_US_2015_03_01:194402005 +xref: SNOMEDCT_US_2015_03_01:77949003 +xref: UMLS_CUI:C0001163 +is_a: DOID:2889 ! retrocochlear disease +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:12661 +name: tooth ankylosis +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Ankylosis of teeth" EXACT [ICD9CM_2006:521.6] +synonym: "Ankylosis of tooth (disorder)" EXACT [SNOMEDCT_2005_07_31:14901003] +xref: ICD10CM:K03.5 +xref: ICD9CM:521.6 +xref: MSH:D020254 +xref: OMIM:157950 +xref: SNOMEDCT_US_2015_03_01:14901003 +xref: UMLS_CUI:C0155930 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:12662 +name: paracoccidioidomycosis +def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] +synonym: "Mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [MTHICD9_2006:116.1] +synonym: "Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:36866003] +synonym: "paracoccidioidal mycosis" EXACT [CSP2005:1988-4119] +synonym: "Paracoccidioidomycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:59925007] +synonym: "Paracoccidioidomycosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187074005] +synonym: "Paracoccidioidomycosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187486002] +xref: ICD10CM:B41 +xref: ICD10CM:B41.9 +xref: ICD9CM:116.1 +xref: MSH:D010229 +xref: NCI:C34891 +xref: SNOMEDCT_US_2015_03_01:187074005 +xref: SNOMEDCT_US_2015_03_01:187486002 +xref: SNOMEDCT_US_2015_03_01:36866003 +xref: SNOMEDCT_US_2015_03_01:59925007 +xref: UMLS_CUI:C0030409 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:12663 +name: blastomycosis +alt_id: DOID:13067 +def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." [url:http\://en.wikipedia.org/wiki/Blastomycosis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +synonym: "Blastomyces Dermatitidis Infection" EXACT [NCI2004_11_17:C34429] +synonym: "Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American])" EXACT [SNOMEDCT_2005_07_31:187064007] +synonym: "Blastomycosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187071002] +synonym: "Blastomycosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187484004] +synonym: "Blastomycotic infection" EXACT [ICD9CM_2006:116] +synonym: "Chicago disease" EXACT [MTHICD9_2006:116.0] +synonym: "Chicago disease (disorder)" EXACT [SNOMEDCT_2005_07_31:190196003] +synonym: "Gilchrist's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:189622001] +synonym: "Infection by Blastomyces dermatitidis (disorder)" EXACT [SNOMEDCT_2005_07_31:191950004] +synonym: "North American blastomycosis" EXACT [MTH:NOCODE] +xref: CSP:1988-4119 +xref: ICD10CM:B40 +xref: ICD10CM:B40.9 +xref: ICD9CM:116 +xref: ICD9CM:116.0 +xref: MSH:D001759 +xref: NCI:C34428 +xref: NCI:C34429 +xref: SNOMEDCT_US_2015_03_01:10673008 +xref: SNOMEDCT_US_2015_03_01:154402000 +xref: SNOMEDCT_US_2015_03_01:187064007 +xref: SNOMEDCT_US_2015_03_01:187071002 +xref: SNOMEDCT_US_2015_03_01:187075006 +xref: SNOMEDCT_US_2015_03_01:187484004 +xref: SNOMEDCT_US_2015_03_01:191950004 +xref: SNOMEDCT_US_2015_03_01:266217003 +xref: SNOMEDCT_US_2015_03_01:69996000 +xref: UMLS_CUI:C0005716 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:12667 +name: binocular vision disease +alt_id: DOID:12671 +synonym: "simultaneous visual perception without fusion" EXACT [] +xref: ICD10CM:H53.30 +xref: ICD9CM:368.30 +xref: NCI:C34422 +xref: SNOMEDCT_US_2015_03_01:193658001 +xref: SNOMEDCT_US_2015_03_01:83275001 +xref: UMLS_CUI:C0005461 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:12668 +name: abnormal retinal correspondence +synonym: "abnormal retinal correspondence (disorder)" EXACT [SNOMEDCT_2005_07_31:79195003] +xref: ICD10CM:H53.31 +xref: ICD9CM:368.34 +xref: SNOMEDCT_US_2015_03_01:79195003 +xref: UMLS_CUI:C0155010 +is_a: DOID:12667 ! binocular vision disease + +[Term] +id: DOID:12670 +name: fusion with defective stereopsis +synonym: "Fusion with defective stereopsis (disorder)" EXACT [SNOMEDCT_2005_07_31:32919003] +is_obsolete: true + +[Term] +id: DOID:12678 +name: hypercalcemia +xref: ICD10CM:E83.52 +xref: ICD9CM:275.42 +xref: MSH:D006934 +xref: NCI:C3112 +xref: SNOMEDCT_US_2015_03_01:154752005 +xref: SNOMEDCT_US_2015_03_01:166702002 +xref: SNOMEDCT_US_2015_03_01:267505006 +xref: SNOMEDCT_US_2015_03_01:66931009 +xref: UMLS_CUI:C0020437 +is_a: DOID:10575 ! calcium metabolism disease + +[Term] +id: DOID:12679 +name: nephrocalcinosis +xref: MSH:D009397 +xref: NCI:C84918 +xref: SNOMEDCT_US_2015_03_01:154752005 +xref: SNOMEDCT_US_2015_03_01:190863003 +xref: SNOMEDCT_US_2015_03_01:267505006 +xref: SNOMEDCT_US_2015_03_01:48638002 +xref: UMLS_CUI:C0027709 +is_a: DOID:182 ! calcinosis +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:12680 +name: pseudobulbar palsy +synonym: "Pseudobulbar palsy" EXACT [ICD9CM_2006:335.23] +synonym: "Pseudobulbar palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:7379000] +synonym: "pseudobulbar paralysis" EXACT [CSP2005:4000-0300] +xref: ICD9CM:335.23 +xref: MSH:D020828 +xref: SNOMEDCT_US_2015_03_01:7379000 +xref: UMLS_CUI:C0033790 +is_a: DOID:231 ! motor neuron disease +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:12683 +name: vestibular neuronitis +def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." [url:http\://en.wikipedia.org/wiki/Vestibular_neuritis, url:http\://www.ncbi.nlm.nih.gov/pubmed/16448876] +synonym: "Epidemic neurolabyrinthitis" EXACT [SNOMEDCT_2005_07_31:43680000] +synonym: "Vestibular neuritis" EXACT [SNOMEDCT_2005_07_31:186738001] +xref: ICD10CM:A88.1 +xref: ICD10CM:H81.2 +xref: ICD10CM:H81.20 +xref: ICD9CM:078.81 +xref: ICD9CM:386.12 +xref: MSH:D020338 +xref: SNOMEDCT_US_2015_03_01:123053001 +xref: SNOMEDCT_US_2015_03_01:155236001 +xref: SNOMEDCT_US_2015_03_01:186738001 +xref: SNOMEDCT_US_2015_03_01:194356004 +xref: SNOMEDCT_US_2015_03_01:232293008 +xref: SNOMEDCT_US_2015_03_01:34243007 +xref: SNOMEDCT_US_2015_03_01:43680000 +xref: UMLS_CUI:C0751908 +is_a: DOID:12657 ! vestibulocochlear nerve disease + +[Term] +id: DOID:12685 +name: mixed receptive-expressive language disorder +def: "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe." [url:http\://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder] +xref: ICD10CM:F80.2 +xref: ICD9CM:315.32 +xref: NCI:C92563 +xref: SNOMEDCT_US_2015_03_01:25766007 +xref: UMLS_CUI:C0236827 +is_a: DOID:2033 ! communication disorder + +[Term] +id: DOID:12689 +name: acoustic neuroma +synonym: "Vestibular Neurilemmoma" EXACT [NCI2004_11_17:C3276] +synonym: "Vestibular schwannoma" EXACT [SNOMEDCT_2005_07_31:389982003] +xref: CSP:2012-6947 +xref: MSH:D009464 +xref: NCI:C3276 +xref: SNOMEDCT_US_2015_03_01:126949007 +xref: SNOMEDCT_US_2015_03_01:154621002 +xref: SNOMEDCT_US_2015_03_01:269643009 +xref: SNOMEDCT_US_2015_03_01:389982003 +xref: SNOMEDCT_US_2015_03_01:985004 +xref: UMLS_CUI:C0027859 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:1269 +name: thyroid gland tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of thyroid gland" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12694 +name: hyperemesis gravidarum with metabolic disturbance +alt_id: DOID:12695 +alt_id: DOID:12696 +synonym: "hyperemesis gravidarum with metabolic disturbance - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199027009] +synonym: "hyperemesis gravidarum with metabolic disturbance, antepartum" EXACT [] +synonym: "hyperemesis gravidarum with metabolic disturbance, delivered" EXACT [] +is_obsolete: true + +[Term] +id: DOID:12697 +name: locked-in syndrome +synonym: "Locked in syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:38023001] +synonym: "Locked-in state" EXACT [ICD9CM_2006:344.81] +xref: ICD10CM:G83.5 +xref: ICD9CM:344.81 +xref: MSH:D011782 +xref: SNOMEDCT_US_2015_03_01:38023001 +xref: UMLS_CUI:C0023944 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:12698 +name: gynecomastia +xref: ICD10CM:N62 +xref: MSH:D006177 +xref: NCI:C3073 +xref: SNOMEDCT_US_2015_03_01:155963008 +xref: SNOMEDCT_US_2015_03_01:198112004 +xref: SNOMEDCT_US_2015_03_01:266646002 +xref: SNOMEDCT_US_2015_03_01:4754008 +xref: UMLS_CUI:C0018418 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:127 +name: leiomyoma +def: "A cell type benign neoplasm that is a benign tumor of smooth muscle cells." [url:http\://en.wikipedia.org/wiki/Cancer, url:http\://en.wikipedia.org/wiki/Leiomyoma] +synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189787000] +synonym: "leiomyomatous tumor" EXACT [NCI2004_11_17:C3157] +xref: MSH:D007889 +xref: NCI:C3157 +xref: SNOMEDCT_US_2015_03_01:189787000 +xref: SNOMEDCT_US_2015_03_01:189788005 +xref: SNOMEDCT_US_2015_03_01:189793008 +xref: SNOMEDCT_US_2015_03_01:702978006 +xref: UMLS_CUI:C0023267 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:1270 +name: hereditary hemorrhagic telangiectasia +def: "An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins." [url:http\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1351/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [] +synonym: "Osler-Weber-Rendu disease" EXACT [NCI2004_11_17:C35064] +synonym: "Rendu-Osler-Weber disease" EXACT [MTHICD9_2006:448.0] +xref: ICD10CM:I78.0 +xref: ICD9CM:448.0 +xref: MSH:D013683 +xref: NCI:C35064 +xref: OMIM:187300 +xref: OMIM:600376 +xref: OMIM:600655 +xref: OMIM:601101 +xref: OMIM:615506 +xref: ORDO:774 +xref: SNOMEDCT_US_2015_03_01:155449008 +xref: SNOMEDCT_US_2015_03_01:21877004 +xref: SNOMEDCT_US_2015_03_01:266324004 +xref: UMLS_CUI:C0039445 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:12700 +name: hyperprolactinemia +alt_id: DOID:12699 +def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." [url:http\://en.wikipedia.org/wiki/Hyperprolactinemia] +synonym: "Chiari-Frommel syndrome" EXACT [] +synonym: "hyperprolactinaemia" EXACT [SNOMEDCT_2005_07_31:190468001] +synonym: "Pregnancy-related A-G syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:85039006] +xref: ICD10CM:E22.1 +xref: MSH:D002640 +xref: MSH:D006966 +xref: NCI:C113168 +xref: SNOMEDCT_US_2015_03_01:190468001 +xref: SNOMEDCT_US_2015_03_01:21170004 +xref: SNOMEDCT_US_2015_03_01:237662005 +xref: SNOMEDCT_US_2015_03_01:367422005 +xref: SNOMEDCT_US_2015_03_01:85039006 +xref: UMLS_CUI:C0008043 +xref: UMLS_CUI:C0020514 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:12702 +name: Rotator cuff shoulder syndrome and allied disorder +is_obsolete: true + +[Term] +id: DOID:12704 +name: ataxia telangiectasia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Boder-Sedgwick syndrome" EXACT [] +synonym: "Louis Bar syndrome" EXACT [CSP2005:0485-2495] +xref: MSH:D001260 +xref: NCI:C2887 +xref: OMIM:208900 +xref: SNOMEDCT_US_2015_03_01:68504005 +xref: UMLS_CUI:C0004135 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia + +[Term] +id: DOID:12705 +name: Friedreich ataxia +alt_id: DOID:0050555 +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Friedreich ataxia 1" EXACT [] +synonym: "Friedreich's ataxia" EXACT [ICD9CM_2006:334.0] +synonym: "Friedreich's tabes" EXACT [CSP2005:0485-3493] +xref: ICD9CM:334.0 +xref: MSH:D005621 +xref: NCI:C84718 +xref: OMIM:229300 +xref: OMIM:601992 +xref: SNOMEDCT_US_2015_03_01:10394003 +xref: SNOMEDCT_US_2015_03_01:155011003 +xref: UMLS_CUI:C0016719 +is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia + +[Term] +id: DOID:12707 +name: myoclonic cerebellar dyssynergia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dyssynergia cerebellaris myoclonica" EXACT [MTHICD9_2006:334.2] +synonym: "progressive cerebellar tremor" EXACT [SNOMEDCT_2005_07_31:41009006] +xref: ICD10CM:G11.1 +xref: MSH:D002527 +xref: OMIM:213400 +xref: SNOMEDCT_US_2015_03_01:192871008 +xref: SNOMEDCT_US_2015_03_01:41009006 +xref: SNOMEDCT_US_2015_03_01:73495003 +xref: UMLS_CUI:C0007761 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:1271 +name: capillary disease +def: "A vascular disease that is located_in the capillaries." [url:http\://en.wikipedia.org/wiki/Capillary#Pathophysiology] +synonym: "disease of capillaries" EXACT [] +xref: ICD10CM:I78 +xref: ICD10CM:I78.9 +xref: ICD9CM:448 +xref: SNOMEDCT_US_2015_03_01:155446001 +xref: SNOMEDCT_US_2015_03_01:155449008 +xref: SNOMEDCT_US_2015_03_01:195250004 +xref: SNOMEDCT_US_2015_03_01:195380006 +xref: SNOMEDCT_US_2015_03_01:195390003 +xref: SNOMEDCT_US_2015_03_01:266324004 +xref: SNOMEDCT_US_2015_03_01:57223003 +xref: SNOMEDCT_US_2015_03_01:58729003 +xref: UMLS_CUI:C0155765 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:12710 +name: Histoplasma duboisii pneumonia +def: "An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] +synonym: "pulmonary African histoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:187052004] +is_obsolete: true + +[Term] +id: DOID:12711 +name: black piedra +def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." [url:http\://en.wikipedia.org/wiki/Black_piedra, url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/] +comment: Adding additional UMLS CUI.\nUMLS has piedra, black piedra and white piedra combined.\nDO has these as distinct diseases. +xref: ICD10CM:B36.3 +xref: ICD9CM:111.3 +xref: MSH:D010854 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:33666009 +xref: SNOMEDCT_US_2015_03_01:402135006 +xref: UMLS_CUI:C0031898 +xref: UMLS_CUI:C0153249 +is_a: DOID:0050133 ! superficial mycosis + +[Term] +id: DOID:12712 +name: nephronophthisis +def: "An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "medullary cystic disease" EXACT [] +synonym: "medullary cystic kidney" EXACT [ICD9CM_2006:753.16] +xref: ICD10CM:Q61.5 +xref: OMIM:256100 +xref: OMIM:602088 +xref: OMIM:604387 +xref: OMIM:606966 +xref: OMIM:611498 +xref: OMIM:613159 +xref: OMIM:613550 +xref: OMIM:613820 +xref: OMIM:613824 +xref: OMIM:614377 +xref: OMIM:614844 +xref: OMIM:614845 +xref: OMIM:615382 +xref: OMIM:615862 +xref: OMIM:616217 +xref: ORDO:655 +xref: SNOMEDCT_US_2015_03_01:204958008 +xref: SNOMEDCT_US_2015_03_01:204961009 +xref: UMLS_CUI:C0687120 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:12713 +name: medullary sponge kidney +synonym: "Medullary Sponge kidney" EXACT [NCI2004_11_17:C34751] +synonym: "Medullary sponge kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:236443009] +synonym: "Sponge kidney" EXACT [SNOMEDCT_2005_07_31:82525005] +synonym: "Sponge kidney" EXACT [SNOMEDCT_2005_07_31:204954005] +is_obsolete: true + +[Term] +id: DOID:12714 +name: Ellis-Van Creveld syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Chondroectodermal dysplasia" EXACT [ICD9CM_2006:756.55] +synonym: "Chondroectodermal dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:62501005] +synonym: "Ellis-van Creveld syndrome" EXACT [MTHICD9_2006:756.55] +xref: ICD10CM:Q77.6 +xref: ICD9CM:756.55 +xref: MSH:D004613 +xref: NCI:C84684 +xref: OMIM:225500 +xref: SNOMEDCT_US_2015_03_01:62501005 +xref: UMLS_CUI:C0013903 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:12715 +name: infectious myositis +synonym: "Infective Myositis" EXACT [NCI2004_11_17:C26984] +synonym: "Infective myositis" EXACT [SNOMEDCT_2005_07_31:203008007] +synonym: "Infective myositis" EXACT [SNOMEDCT_2005_07_31:156719002] +synonym: "Infective myositis" EXACT [ICD9CM_2006:728.0] +synonym: "Infective myositis (disorder)" EXACT [SNOMEDCT_2005_07_31:29689003] +is_obsolete: true + +[Term] +id: DOID:12716 +name: newborn respiratory distress syndrome +alt_id: DOID:11395 +alt_id: DOID:13859 +def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome] +synonym: "HMD - Hyaline membrane disease" EXACT [SNOMEDCT_2005_07_31:46775006] +synonym: "hyaline membrane disease" EXACT [CSP2005:0726-3340] +synonym: "Neonatal respiratory Distress syndrome" EXACT [NCI2004_11_17:C27560] +synonym: "pulmonary hyaline membrane disease" EXACT [MTHICD9_2006:769] +synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [SNOMEDCT_2005_07_31:206281003] +synonym: "respiratory distress syndrome of newborn" EXACT [SNOMEDCT_2005_07_31:157107007] +xref: ICD10CM:P22.0 +xref: MSH:D006819 +xref: OMIM:267450 +xref: SNOMEDCT_US_2015_03_01:206281003 +xref: SNOMEDCT_US_2015_03_01:26168007 +xref: SNOMEDCT_US_2015_03_01:46775006 +xref: UMLS_CUI:C0020192 +is_a: DOID:11162 ! respiratory failure + +[Term] +id: DOID:12718 +name: chronic gonococcal salpingitis +synonym: "chronic gonococcal salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:53529004] +synonym: "Gonococcal salpingitis" EXACT [MTHICD9_2006:098.37] +synonym: "Gonococcal salpingitis (chronic)" EXACT [ICD9CM_2006:098.37] +xref: ICD9CM:098.37 +xref: SNOMEDCT_US_2015_03_01:53529004 +xref: UMLS_CUI:C0153208 +is_a: DOID:5731 ! chronic salpingitis + +[Term] +id: DOID:1272 +name: telangiectasis +synonym: "telangiectasia" EXACT [NCI2004_11_17:C28194] +xref: MSH:D013684 +xref: NCI:C28194 +xref: SNOMEDCT_US_2015_03_01:112641009 +xref: SNOMEDCT_US_2015_03_01:155449008 +xref: SNOMEDCT_US_2015_03_01:247479008 +xref: SNOMEDCT_US_2015_03_01:266324004 +xref: SNOMEDCT_US_2015_03_01:276328002 +xref: UMLS_CUI:C0039446 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:12720 +name: cerebral atherosclerosis +synonym: "Cerebral atherosclerosis" EXACT [SNOMEDCT_2005_07_31:266258005] +synonym: "Cerebral atherosclerosis" EXACT [ICD9CM_2006:437.0] +synonym: "Cerebral atherosclerosis" EXACT [SNOMEDCT_2005_07_31:195220007] +synonym: "Cerebral atherosclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:55382008] +xref: ICD10CM:I67.2 +xref: ICD9CM:437.0 +xref: MSH:D002537 +xref: NCI:C34459 +xref: SNOMEDCT_US_2015_03_01:195220007 +xref: SNOMEDCT_US_2015_03_01:266258005 +xref: SNOMEDCT_US_2015_03_01:55382008 +xref: UMLS_CUI:C0007775 +is_a: DOID:1936 ! atherosclerosis + +[Term] +id: DOID:12721 +name: multiple epiphyseal dysplasia +def: "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain." [url:http\://emedicine.medscape.com/article/1259038-overview, url:http\://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia, url:http\://www.healthline.com/galecontent/multiple-epiphyseal-dysplasia, url:http\://www.wheelessonline.com/ortho/multiple_epiphyseal_dysplasia] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "polyepiphyseal dysplasia" EXACT [] +xref: ICD9CM:756.56 +xref: MSH:D010009 +xref: OMIM:132400 +xref: OMIM:226900 +xref: OMIM:600204 +xref: OMIM:600959 +xref: OMIM:607078 +xref: OMIM:614135 +xref: ORDO:251 +xref: SNOMEDCT_US_2015_03_01:205504001 +xref: SNOMEDCT_US_2015_03_01:59708000 +xref: UMLS_CUI:C0026760 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:12722 +name: liver metastasis +synonym: "malignant neoplasm of liver, specified as secondary" EXACT [ICD9CM_2006:197.7] +synonym: "metastasis to liver" EXACT [SNOMEDCT_2005_07_31:154568001] +synonym: "metastasis to liver" EXACT [SNOMEDCT_2005_07_31:187780009] +synonym: "metastatic tumor to the Liver" EXACT [NCI2004_11_17:C4758] +synonym: "secondary malignant neoplasm of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:94381002] +is_obsolete: true + +[Term] +id: DOID:12723 +name: lung carcinoma metastatic to the liver +is_obsolete: true + +[Term] +id: DOID:12724 +name: breast arcinoma metastatic to the liver +is_obsolete: true + +[Term] +id: DOID:12727 +name: retroverted incarcerated gravid uterus +alt_id: DOID:12728 +alt_id: DOID:12729 +alt_id: DOID:12730 +synonym: "antepartum retroverted and incarcerated gravid uterus" EXACT [] +synonym: "postpartum retroverted and incarcerated gravid uterus" EXACT [] +synonym: "Retroverted and incarcerated gravid uterus, delivered" EXACT [ICD9CM_2006:654.31] +synonym: "Retroverted incarcerated gravid uterus - delivered" EXACT [] +synonym: "Retroverted incarcerated gravid uterus - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199468005] +is_obsolete: true + +[Term] +id: DOID:1273 +name: respiratory syncytial virus infectious disease +def: "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." [url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g] +xref: MSH:D018357 +xref: NCI:C3354 +xref: SNOMEDCT_US_2015_03_01:186750007 +xref: SNOMEDCT_US_2015_03_01:55735004 +xref: UMLS_CUI:C0035235 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:12731 +name: pars planitis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Posterior cyclitis" EXACT [SNOMEDCT_2005_07_31:193452008] +xref: ICD10CM:H30.2 +xref: ICD9CM:363.21 +xref: MSH:D015868 +xref: NCI:C34903 +xref: OMIM:606177 +xref: SNOMEDCT_US_2015_03_01:193452008 +xref: SNOMEDCT_US_2015_03_01:314428001 +xref: SNOMEDCT_US_2015_03_01:45688009 +xref: UMLS_CUI:C0030593 +is_a: DOID:12732 ! intermediate uveitis +is_a: DOID:8886 ! chorioretinitis + +[Term] +id: DOID:12732 +name: intermediate uveitis +synonym: "chronic cyclitis" EXACT [SNOMEDCT_2005_07_31:308126005] +synonym: "peripheral uveoretinitis" EXACT [SNOMEDCT_2005_07_31:314429009] +xref: MSH:D015867 +xref: NCI:C35110 +xref: SNOMEDCT_US_2015_03_01:155118006 +xref: SNOMEDCT_US_2015_03_01:193491003 +xref: SNOMEDCT_US_2015_03_01:308126005 +xref: SNOMEDCT_US_2015_03_01:314429009 +xref: SNOMEDCT_US_2015_03_01:398322000 +xref: UMLS_CUI:C0042166 +is_a: DOID:13141 ! uveitis + +[Term] +id: DOID:12733 +name: hypercementosis +synonym: "Cementation hyperplasia" EXACT [MTHICD9_2006:521.5] +synonym: "hypercementosis (disorder)" EXACT [SNOMEDCT_2005_07_31:78537008] +xref: ICD10CM:K03.4 +xref: ICD9CM:521.5 +xref: MSH:D006936 +xref: SNOMEDCT_US_2015_03_01:78537008 +xref: UMLS_CUI:C0020441 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:12735 +name: hernia of ovary and fallopian tube +xref: ICD10CM:N83.4 +xref: ICD9CM:620.4 +xref: UMLS_CUI:C0495094 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:12739 +name: bronchial tuberculosis +def: "A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways." [url:http\://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:1275 +name: Pneumovirus infectious disease +def: "A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions." [url:http\://expasy.org/viralzone/all_by_species/90.html] +is_obsolete: true + +[Term] +id: DOID:12750 +name: cyclosporiasis +def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cyclosporiasis.htm] +xref: ICD10CM:A07.4 +xref: ICD9CM:007.5 +xref: MSH:D021866 +xref: SNOMEDCT_US_2015_03_01:240372001 +xref: UMLS_CUI:C0343398 +is_a: DOID:2113 ! coccidiosis + +[Term] +id: DOID:12753 +name: corneal staphyloma +synonym: "Corneal staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:52476003] +xref: ICD10CM:H18.72 +xref: ICD9CM:371.73 +xref: SNOMEDCT_US_2015_03_01:193849005 +xref: SNOMEDCT_US_2015_03_01:52476003 +xref: UMLS_CUI:C0152440 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:12756 +name: lacrimal duct cancer +synonym: "malignant neoplasm of lacrimal duct" EXACT [ICD9CM_2006:190.7] +synonym: "malignant neoplasm of lacrimal duct" EXACT [SNOMEDCT_2005_07_31:93852003] +synonym: "malignant neoplasm of lacrimal duct NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188275003] +synonym: "malignant tumor of lacrimal duct" EXACT [NCI2004_11_17:C3567] +xref: ICD9CM:190.7 +xref: NCI:C3567 +xref: SNOMEDCT_US_2015_03_01:188274004 +xref: SNOMEDCT_US_2015_03_01:188275003 +xref: SNOMEDCT_US_2015_03_01:93852003 +xref: UMLS_CUI:C0153631 +is_a: DOID:292 ! lacrimal system cancer + +[Term] +id: DOID:12758 +name: malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid +synonym: "malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)" EXACT [SNOMEDCT_2005_07_31:188261005] +synonym: "malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid" EXACT [ICD9CM_2006:190.0] +is_obsolete: true + +[Term] +id: DOID:12759 +name: choroid cancer +alt_id: DOID:12760 +synonym: "choroid neoplasm" EXACT [] +synonym: "Choroidal tumor" EXACT [NCI2004_11_17:C2949] +synonym: "malignant tumor of choroid (disorder)" EXACT [SNOMEDCT_2005_07_31:363466008] +synonym: "malignant tumor of the Choroid" EXACT [NCI2004_11_17:C3566] +synonym: "neoplasm of choroid (disorder)" EXACT [SNOMEDCT_2005_07_31:127001008] +xref: ICD10CM:C69.3 +xref: ICD9CM:190.6 +xref: MSH:D002830 +xref: NCI:C2949 +xref: NCI:C3566 +xref: SNOMEDCT_US_2015_03_01:127001008 +xref: SNOMEDCT_US_2015_03_01:363466008 +xref: SNOMEDCT_US_2015_03_01:93755007 +xref: UMLS_CUI:C0008523 +xref: UMLS_CUI:C0153630 +is_a: DOID:3479 ! uveal cancer + +[Term] +id: DOID:12763 +name: classic Kaposi's sarcoma +def: "A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2] +synonym: "Kaposi's sarcoma Classical type" EXACT [NCI2004_11_17:C9112] +is_obsolete: true + +[Term] +id: DOID:12765 +name: peritonsillar abscess +def: "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \"hot potato voice\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common." [url:http\://en.wikipedia.org/wiki/Peritonsillar_abscess] +synonym: "Peritonsillar abscess" EXACT [ICD9CM_2006:475] +synonym: "Peritonsillar abscess" EXACT [SNOMEDCT_2005_07_31:155534002] +synonym: "Peritonsillar abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:15033003] +synonym: "Quinsy" EXACT [MTHICD9_2006:475] +is_obsolete: true + +[Term] +id: DOID:12773 +name: endemic African Kaposi's sarcoma +def: "A Kaposi's sarcoma that is located_in black Africans." [url:http\://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009, url:http\://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm] +is_obsolete: true + +[Term] +id: DOID:12779 +name: recurrent Kaposi's sarcoma +def: "A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes." [url:http\://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116] +synonym: "recurrent Multiple Hemorrhagic sarcoma" EXACT [NCI2004_11_17:C7935] +is_obsolete: true + +[Term] +id: DOID:1278 +name: tolosa-hunt syndrome +synonym: "Tolosa-Hunt syndrome" EXACT [SNOMEDCT_2005_07_31:75111000] +synonym: "Tolosa-Hunt syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:95794005] +xref: MSH:D020333 +xref: NCI:C85193 +xref: SNOMEDCT_US_2015_03_01:75111000 +xref: SNOMEDCT_US_2015_03_01:95794005 +xref: UMLS_CUI:C0040381 +is_a: DOID:1279 ! ocular motility disease + +[Term] +id: DOID:12782 +name: cicatricial ectropion +xref: ICD9CM:374.14 +xref: SNOMEDCT_US_2015_03_01:28914006 +xref: UMLS_CUI:C0155196 +is_a: DOID:1570 ! ectropion + +[Term] +id: DOID:12783 +name: migraine without aura +def: "A migraine that is characterized by migraine headaches that are not accompanied by an aura." [url:http\://en.wikipedia.org/wiki/Migraine] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "common migraine" EXACT [] +xref: ICD10CM:G43.0 +xref: ICD10CM:G43.009 +xref: ICD9CM:346.1 +xref: MSH:D020326 +xref: OMIM:607501 +xref: SNOMEDCT_US_2015_03_01:193027003 +xref: SNOMEDCT_US_2015_03_01:193029000 +xref: SNOMEDCT_US_2015_03_01:56097005 +xref: UMLS_CUI:C0338480 +is_a: DOID:6364 ! migraine + +[Term] +id: DOID:12784 +name: diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations +synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations" EXACT [MTHICD9_2006:250.61] +synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations" EXACT [ICD9CM_2006:250.61] +is_obsolete: true + +[Term] +id: DOID:12785 +name: diabetic polyneuropathy +synonym: "Diabetes mellitus with polyneuropathy" EXACT [SNOMEDCT_2005_07_31:190349003] +synonym: "Diabetic polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:49455004] +synonym: "Polyneuropathy in diabetes" EXACT [ICD9CM_2006:357.2] +synonym: "Polyneuropathy in diabetes" EXACT [SNOMEDCT_2005_07_31:193182005] +xref: ICD9CM:357.2 +xref: MSH:D003929 +xref: SNOMEDCT_US_2015_03_01:190349003 +xref: SNOMEDCT_US_2015_03_01:193182005 +xref: SNOMEDCT_US_2015_03_01:49455004 +xref: UMLS_CUI:C0271680 +is_a: DOID:9743 ! diabetic neuropathy + +[Term] +id: DOID:1279 +name: ocular motility disease +synonym: "disorder of eye movements (disorder)" EXACT [SNOMEDCT_2005_07_31:45030009] +synonym: "eye movement disorder" EXACT [CSP2005:1115-2778] +synonym: "Unspecified disorder of eye movements" EXACT [ICD9CM_2006:378.9] +xref: ICD9CM:378.9 +xref: MSH:D015835 +xref: SNOMEDCT_US_2015_03_01:45030009 +xref: UMLS_CUI:C0028850 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:12796 +name: Posterior synechiae +synonym: "Posterior synechiae (disorder)" EXACT [SNOMEDCT_2005_07_31:111512005] +synonym: "Posterior synechiae of iris" EXACT [ICD9CM_2006:364.71] +is_obsolete: true + +[Term] +id: DOID:12797 +name: hallucinogen abuse +def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Hallucinogen] +xref: ICD10CM:F16.1 +xref: ICD9CM:305.3 +xref: SNOMEDCT_US_2015_03_01:74851005 +xref: UMLS_CUI:C0018526 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:12798 +name: mucopolysaccharidosis +alt_id: DOID:14716 +def: "A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis] +comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. +subset: DO_MGI_slim +xref: ICD10CM:E76.3 +xref: ICD9CM:277.5 +xref: MSH:D009083 +xref: NCI:C61259 +xref: OMIM:252700 +xref: OMIM:607014 +xref: ORDO:79213 +xref: SNOMEDCT_US_2015_03_01:11380006 +xref: SNOMEDCT_US_2015_03_01:190936000 +xref: SNOMEDCT_US_2015_03_01:190942001 +xref: SNOMEDCT_US_2015_03_01:267452003 +xref: UMLS_CUI:C0026703 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:12799 +name: mucopolysaccharidosis II +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase." [url:http\://en.wikipedia.org/wiki/Hunter_syndrome] +comment: OMIM mapping submitted by NeuroDevNet. [LS]. +synonym: "deficiency of iduronate-2-sulphatase" EXACT [SNOMEDCT_2005_07_31:61413000] +synonym: "Hunter syndrome" EXACT [] +synonym: "Hunter's syndrome" EXACT [SNOMEDCT_2005_07_31:190936000] +synonym: "MPS II - Hunter syndrome" EXACT [] +synonym: "Mucopolysaccharidosis, MPS-II (disorder)" EXACT [SNOMEDCT_2005_07_31:70737009] +xref: ICD10CM:E76.1 +xref: MSH:D016532 +xref: NCI:C61260 +xref: OMIM:309900 +xref: SNOMEDCT_US_2015_03_01:190936000 +xref: SNOMEDCT_US_2015_03_01:61413000 +xref: SNOMEDCT_US_2015_03_01:70737009 +xref: UMLS_CUI:C0026705 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:128 +name: vaginal soft tissue tumor +is_obsolete: true + +[Term] +id: DOID:12800 +name: mucopolysaccharidosis VI +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase." [url:http\://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "arylsulfatase B deficiency" EXACT [CSP2005:1849-6512] +synonym: "deficiency of N-acetylgalactosamine-4-sulfatase (disorder)" EXACT [SNOMEDCT_2005_07_31:52677002] +synonym: "Maroteaux - Lamy syndrome" EXACT [SNOMEDCT_2005_07_31:190936000] +synonym: "Maroteaux-Lamy syndrome" EXACT [MTHICD9_2006:277.5] +synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [] +xref: MSH:D009087 +xref: NCI:C61264 +xref: OMIM:253200 +xref: SNOMEDCT_US_2015_03_01:190936000 +xref: SNOMEDCT_US_2015_03_01:52677002 +xref: SNOMEDCT_US_2015_03_01:69463008 +xref: UMLS_CUI:C0026709 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:12801 +name: mucopolysaccharidosis III +alt_id: DOID:14729 +alt_id: DOID:14788 +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Sanfilippo_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HEPARAN SULFATE SULFATASE DEFICIENCY" EXACT [] +synonym: "MPS IIIA - Sanfilippo syndrome A" EXACT [] +synonym: "MPS IIIB - Sanfilippo syndrome B" EXACT [] +synonym: "MPS IIIC - Sanfilippo syndrome C" EXACT [] +synonym: "MPS IIID - Sanfilippo syndrome D" EXACT [] +synonym: "mucopolysaccharidosis type IIIA" EXACT [] +synonym: "mucopolysaccharidosis type IIIB" EXACT [] +synonym: "Mucopolysaccharidosis, MPS-III" EXACT [SNOMEDCT_2005_07_31:88393000] +synonym: "Mucopolysaccharidosis, MPS-III-B (disorder)" EXACT [SNOMEDCT_2005_07_31:59990008] +synonym: "N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY" EXACT [] +synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [SNOMEDCT_2005_07_31:41572006] +synonym: "NAGLU DEFICIENCY" EXACT [] +synonym: "SANFILIPPO SYNDROME A" EXACT [] +synonym: "SANFILIPPO SYNDROME B" EXACT [] +synonym: "Sanfilippo's syndrome" EXACT [SNOMEDCT_2005_07_31:190936000] +synonym: "Sanfilippo's syndrome" EXACT [MTHICD9_2006:277.5] +xref: ICD10CM:E76.22 +xref: MSH:D009084 +xref: NCI:C61262 +xref: NCI:C84897 +xref: NCI:C84898 +xref: OMIM:252900 +xref: OMIM:252920 +xref: OMIM:252930 +xref: OMIM:252940 +xref: SNOMEDCT_US_2015_03_01:190936000 +xref: SNOMEDCT_US_2015_03_01:254070003 +xref: SNOMEDCT_US_2015_03_01:254071004 +xref: SNOMEDCT_US_2015_03_01:41572006 +xref: SNOMEDCT_US_2015_03_01:59990008 +xref: SNOMEDCT_US_2015_03_01:88393000 +xref: UMLS_CUI:C0026706 +xref: UMLS_CUI:C0086647 +xref: UMLS_CUI:C0086648 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:12802 +name: mucopolysaccharidosis I +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I] +synonym: "Hurler syndrome" EXACT [] +synonym: "Hurler-Scheie syndrome" EXACT [] +synonym: "iduronidase deficiency disease" EXACT [CSP2005:1849-6334] +synonym: "Lipochondrodystrophy" EXACT [MTHICD9_2006:277.5] +synonym: "MPS I - Hurler syndrome" EXACT [] +synonym: "Mucopolysaccharidosis, MPS-I (disorder)" EXACT [SNOMEDCT_2005_07_31:75610003] +synonym: "Mucopolysaccharidosis, type 1" EXACT [SNOMEDCT_2005_07_31:190938004] +xref: ICD10CM:E76.0 +xref: MSH:D008059 +xref: NCI:C85053 +xref: OMIM:607014 +xref: OMIM:607015 +xref: OMIM:607016 +xref: SNOMEDCT_US_2015_03_01:190938004 +xref: SNOMEDCT_US_2015_03_01:267453008 +xref: SNOMEDCT_US_2015_03_01:75610003 +xref: UMLS_CUI:C0023786 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:12803 +name: Sly syndrome +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII, url:http\://omim.org/entry/253220] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "beta-glucuronidase deficiency" EXACT [] +synonym: "deficiency of beta-glucuronidase" EXACT [SNOMEDCT_2005_07_31:124470009] +synonym: "MPS VII - Sly syndrome" EXACT [] +synonym: "mucopolysaccharidosis VII" EXACT [] +xref: ICD10CM:E76.29 +xref: MSH:D016538 +xref: NCI:C84903 +xref: OMIM:253220 +xref: SNOMEDCT_US_2015_03_01:124470009 +xref: SNOMEDCT_US_2015_03_01:43916004 +xref: UMLS_CUI:C0085132 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:12804 +name: mucopolysaccharidosis IV +alt_id: DOID:14767 +def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Morquio_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002186/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "chondroosteodystrophy" EXACT [CSP2005:1849-6163] +synonym: "deficiency of chondroitinsulphatase" EXACT [SNOMEDCT_2005_07_31:124449003, SNOMEDCT_2005_07_31:130197005] +synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT [SNOMEDCT_2005_07_31:78856008] +synonym: "GALACTOSAMINE-6-SULFATASE DEFICIENCY" EXACT [] +synonym: "MORQUIO A DISEASE" EXACT [] +synonym: "Morquio syndrome A" EXACT [] +synonym: "MPS IV - Morquio syndrome A" EXACT [] +synonym: "MPS IV - Morquio syndrome B" EXACT [] +synonym: "mucopolysaccharidosis type IVA" EXACT [] +synonym: "Mucopolysaccharidosis type IVB" EXACT [] +synonym: "Mucopolysaccharidosis, MPS-IV" EXACT [SNOMEDCT_2005_07_31:378007] +synonym: "Mucopolysaccharidosis, MPS-IV-A (disorder)" EXACT [SNOMEDCT_2005_07_31:7259005] +synonym: "Osteochondrodystrophy" EXACT [SNOMEDCT_2005_07_31:190936000] +xref: ICD10CM:E76.210 +xref: ICD10CM:E76.219 +xref: MSH:D009085 +xref: NCI:C61263 +xref: NCI:C84901 +xref: OMIM:253000 +xref: OMIM:253010 +xref: SNOMEDCT_US_2015_03_01:124449003 +xref: SNOMEDCT_US_2015_03_01:130197005 +xref: SNOMEDCT_US_2015_03_01:190936000 +xref: SNOMEDCT_US_2015_03_01:254074007 +xref: SNOMEDCT_US_2015_03_01:378007 +xref: SNOMEDCT_US_2015_03_01:7259005 +xref: SNOMEDCT_US_2015_03_01:78856008 +xref: UMLS_CUI:C0026707 +xref: UMLS_CUI:C0086651 +is_a: DOID:12798 ! mucopolysaccharidosis + +[Term] +id: DOID:12809 +name: chronic lacrimal gland enlargement +synonym: "chronic enlargement of lacrimal gland" EXACT [ICD9CM_2006:375.03] +synonym: "chronic enlargement of lacrimal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:4839005] +synonym: "chronic lacrimal gland enlargement [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193972008] +xref: ICD10CM:H04.03 +xref: ICD9CM:375.03 +xref: SNOMEDCT_US_2015_03_01:193972008 +xref: SNOMEDCT_US_2015_03_01:393582003 +xref: SNOMEDCT_US_2015_03_01:4839005 +xref: UMLS_CUI:C1300133 +is_a: DOID:950 ! dacryoadenitis + +[Term] +id: DOID:12819 +name: Clostridium difficile intestinal infectious disease +def: "A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain." [url:http\://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "intestinal infectious disease due to clostridium difficile" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1283 +name: enterocele +synonym: "pelvic enterocele (& vaginal)" EXACT [SNOMEDCT_2005_07_31:198272003] +synonym: "vaginal enterocele" EXACT [SNOMEDCT_2005_07_31:270884000] +synonym: "vaginal enterocele (disorder)" EXACT [SNOMEDCT_2005_07_31:47671001] +synonym: "vaginal enterocele (disorder)" EXACT [SNOMEDCT_2005_07_31:398061002] +synonym: "vaginal enterocele NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198275001] +synonym: "vaginal enterocele, congenital or acquired" EXACT [ICD9CM_2006:618.6] +xref: ICD10CM:K46 +xref: ICD10CM:N81.5 +xref: ICD9CM:618.6 +xref: MSH:D006547 +xref: SNOMEDCT_US_2015_03_01:198272003 +xref: SNOMEDCT_US_2015_03_01:198275001 +xref: SNOMEDCT_US_2015_03_01:270884000 +xref: SNOMEDCT_US_2015_03_01:398061002 +xref: SNOMEDCT_US_2015_03_01:47671001 +xref: UMLS_CUI:C0205792 +is_a: DOID:1284 ! prolapse of female genital organ +is_a: DOID:1285 ! rectal disease + +[Term] +id: DOID:12835 +name: quadriplegia +synonym: "Quadriplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:11538006] +synonym: "Quadriplegia, unspecified" EXACT [ICD9CM_2006:344.00] +synonym: "tetraplegia" EXACT [CSP2005:2057-3626] +xref: ICD10CM:G82.5 +xref: ICD10CM:G82.50 +xref: ICD9CM:344.00 +xref: MSH:D011782 +xref: NCI:C50721 +xref: SNOMEDCT_US_2015_03_01:11538006 +xref: SNOMEDCT_US_2015_03_01:155030003 +xref: UMLS_CUI:C0034372 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:12836 +name: senile entropion +synonym: "Involutional entropion" EXACT [SNOMEDCT_2005_07_31:55408009] +xref: ICD9CM:374.01 +xref: SNOMEDCT_US_2015_03_01:55408009 +xref: UMLS_CUI:C0155188 +is_a: DOID:12397 ! entropion + +[Term] +id: DOID:12837 +name: thyroid crisis +synonym: "Thyroid crisis" EXACT [SNOMEDCT_2005_07_31:190262002] +synonym: "Thyrotoxic crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:29028009] +xref: MSH:D013958 +xref: NCI:C112836 +xref: SNOMEDCT_US_2015_03_01:190262002 +xref: SNOMEDCT_US_2015_03_01:29028009 +xref: UMLS_CUI:C0040127 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:12838 +name: secondary thyroid hyperplasia +is_obsolete: true + +[Term] +id: DOID:12839 +name: thyrotoxicosis from ectopic thyroid nodule +alt_id: DOID:12943 +alt_id: DOID:12944 +synonym: "hyperthyroidism due to ectopic thyroid nodule (disorder)" EXACT [SNOMEDCT_2005_07_31:87232008] +synonym: "Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190257003] +synonym: "thyrotoxicosis from ectopic thyroid nodule with crisis" EXACT [] +synonym: "Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:190256007] +synonym: "Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm" EXACT [ICD9CM_2006:242.41] +synonym: "thyrotoxicosis from ectopic thyroid nodule with no crisis" EXACT [] +synonym: "Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:190255006] +synonym: "Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm" EXACT [ICD9CM_2006:242.40] +is_obsolete: true + +[Term] +id: DOID:1284 +name: prolapse of female genital organ +xref: ICD9CM:618.8 +xref: ICD9CM:618.89 +xref: UMLS_CUI:C0029801 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:12840 +name: Ancylostoma ceylanicum ancylostomiasis +def: "An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine." [url:http\://emedicine.medscape.com/article/996361-overview] +synonym: "Ancylostomiasis due to ancylostoma ceylanicum" EXACT [ICD9CM_2006:126.3] +synonym: "Ancylostomiasis due to Ancylostoma ceylonicum (disorder)" EXACT [SNOMEDCT_2005_07_31:38725001] +is_obsolete: true + +[Term] +id: DOID:12841 +name: ancylostomiasis +def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." [url:http\://en.wikipedia.org/wiki/Ancylostomiasis] +synonym: "Ancylostomiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:63479002] +synonym: "Ancylostomosis" EXACT [SNOMEDCT_2005_07_31:85807000] +xref: ICD10CM:B76.0 +xref: MSH:D000724 +xref: NCI:C35805 +xref: SNOMEDCT_US_2015_03_01:63479002 +xref: SNOMEDCT_US_2015_03_01:85807000 +xref: UMLS_CUI:C0002831 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:12842 +name: Guillain-Barre syndrome +def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." [url:http\://www.ninds.nih.gov/disorders/gbs/gbs.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acute inf. polyneuritis" EXACT [SNOMEDCT_2005_07_31:155082001] +synonym: "acute inf. polyneuritis" EXACT [SNOMEDCT_2005_07_31:267707000] +synonym: "acute Infective Polyneuritis" EXACT [NCI2004_11_17:C26790] +synonym: "acute infective polyneuritis" EXACT [ICD9CM_2006:357.0] +synonym: "acute infective polyneuritis" EXACT [SNOMEDCT_2005_07_31:193173004] +synonym: "acute infective polyneuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:129131007] +synonym: "acute infective polyneuritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193176007] +synonym: "acute postinfectious polyneuropathy" EXACT [CSP2005:2042-6653] +synonym: "Guillain-Barre syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:40956001] +synonym: "Infectious neuronitis (disorder)" EXACT [SNOMEDCT_2005_07_31:128085000] +synonym: "Post-infectious polyneuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:193174005] +synonym: "Postinfectious polyneuritis" EXACT [MTHICD9_2006:357.0] +xref: ICD10CM:G61.0 +xref: ICD9CM:357.0 +xref: MSH:D020275 +xref: NCI:C26790 +xref: OMIM:139393 +xref: SNOMEDCT_US_2015_03_01:128085000 +xref: SNOMEDCT_US_2015_03_01:129131007 +xref: SNOMEDCT_US_2015_03_01:155082001 +xref: SNOMEDCT_US_2015_03_01:193173004 +xref: SNOMEDCT_US_2015_03_01:193174005 +xref: SNOMEDCT_US_2015_03_01:193176007 +xref: SNOMEDCT_US_2015_03_01:267707000 +xref: SNOMEDCT_US_2015_03_01:40956001 +xref: UMLS_CUI:C0018378 +is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system + +[Term] +id: DOID:12843 +name: polyneuritis +synonym: "multiple peripheral neuritis" EXACT [CSP2005:2042-6617] +synonym: "polyneuritis" EXACT [NCI2004_11_17:C26864] +synonym: "Polyneuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:76886005] +is_obsolete: true + +[Term] +id: DOID:12849 +name: autistic disorder +def: "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." [url:http\://en.wikipedia.org/wiki/Autism, url:www.neurodevnet.ca] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "autism" EXACT [] +synonym: "autistic disorder of childhood onset" EXACT [] +synonym: "childhood autism" EXACT [SNOMEDCT_2005_07_31:192581001] +synonym: "infantile autism" EXACT [] +synonym: "Kanner's syndrome" EXACT [MTHICD9_2006:299.0] +xref: EFO:0003758 +xref: ICD10CM:F84.0 +xref: ICD9CM:299.0 +xref: MSH:D001321 +xref: NCI:C97161 +xref: OMIM:209850 +xref: OMIM:300425 +xref: OMIM:300495 +xref: OMIM:300496 +xref: OMIM:300830 +xref: OMIM:300847 +xref: OMIM:300872 +xref: OMIM:606059 +xref: OMIM:607373 +xref: OMIM:608049 +xref: OMIM:608636 +xref: OMIM:609378 +xref: OMIM:610676 +xref: OMIM:610836 +xref: OMIM:610908 +xref: OMIM:611015 +xref: OMIM:611016 +xref: OMIM:611913 +xref: OMIM:612100 +xref: OMIM:613410 +xref: OMIM:613436 +xref: OMIM:615032 +xref: OMIM:615091 +xref: ORDO:106 +xref: SNOMEDCT_US_2015_03_01:154878007 +xref: SNOMEDCT_US_2015_03_01:191688000 +xref: SNOMEDCT_US_2015_03_01:191691000 +xref: SNOMEDCT_US_2015_03_01:192581001 +xref: SNOMEDCT_US_2015_03_01:271450003 +xref: SNOMEDCT_US_2015_03_01:34883005 +xref: SNOMEDCT_US_2015_03_01:38763009 +xref: SNOMEDCT_US_2015_03_01:408856003 +xref: SNOMEDCT_US_2015_03_01:408857007 +xref: SNOMEDCT_US_2015_03_01:43614003 +xref: UMLS_CUI:C0004352 +is_a: DOID:0060041 ! autism spectrum disorder + +[Term] +id: DOID:1285 +name: rectal disease +xref: MSH:D012002 +xref: SNOMEDCT_US_2015_03_01:5964004 +xref: UMLS_CUI:C0034882 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:12852 +name: adhesions of drum head to incus +is_obsolete: true + +[Term] +id: DOID:12853 +name: adhesions of drum head to promontorium +is_obsolete: true + +[Term] +id: DOID:12854 +name: adhesions of drum head to stapes +is_obsolete: true + +[Term] +id: DOID:12857 +name: achilles bursitis +synonym: "Achilles bursitis (disorder)" EXACT [SNOMEDCT_2005_07_31:221695002] +synonym: "Achilles bursitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:87494005] +synonym: "Achilles bursitis or tendinitis" EXACT [ICD9CM_2006:726.71] +synonym: "Capped hock" EXACT [SNOMEDCT_2005_07_31:74859007] +synonym: "Haglund's deformity" EXACT [SNOMEDCT_2005_07_31:202879008] +synonym: "Haglund's disease" EXACT [SNOMEDCT_2005_07_31:203394008] +xref: ICD10CM:M76.6 +xref: ICD9CM:726.71 +xref: SNOMEDCT_US_2015_03_01:202879008 +xref: SNOMEDCT_US_2015_03_01:203394008 +xref: SNOMEDCT_US_2015_03_01:221695002 +xref: SNOMEDCT_US_2015_03_01:74859007 +xref: SNOMEDCT_US_2015_03_01:87494005 +xref: UMLS_CUI:C0149846 +is_a: DOID:2965 ! bursitis + +[Term] +id: DOID:12858 +name: Huntington's disease +def: "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." [url:http\://en.wikipedia.org/wiki/Huntington_disease, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple] +synonym: "HD" EXACT [CSP2005:2057-3283] +synonym: "Huntington disease" EXACT [] +synonym: "Huntington's chorea" EXACT [ICD9CM_2006:333.4] +xref: ICD10CM:G10 +xref: ICD9CM:333.4 +xref: KEGG:05016 +xref: MSH:D006816 +xref: NCI:C82342 +xref: OMIM:143100 +xref: SNOMEDCT_US_2015_03_01:155006000 +xref: SNOMEDCT_US_2015_03_01:58756001 +xref: UMLS_CUI:C0020179 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:12859 +name: choreatic disease +def: "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next." [url:http\://en.wikipedia.org/wiki/Chorea, url:http\://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "chorea" EXACT [] +synonym: "hereditary chorea" EXACT [] +xref: ICD10CM:G25.5 +xref: OMIM:118700 +xref: OMIM:215450 +xref: ORDO:1429 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:12860 +name: non-neoplastic nevus of skin +synonym: "nevus, non-neoplastic" EXACT [ICD9CM_2006:448.1] +synonym: "Non-neoplastic nevus" EXACT [NCI2004_11_17:C3937] +synonym: "Non-neoplastic nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:195381005] +synonym: "Non-neoplastic nevus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195384002] +synonym: "Non-neoplastic nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:268462008] +synonym: "Non-neoplastic nevus of skin (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:11790000] +is_obsolete: true + +[Term] +id: DOID:12863 +name: senile nevus +synonym: "Senile naevus" EXACT [SNOMEDCT_2005_07_31:155447005] +synonym: "Senile nevus" EXACT [NCI2004_11_17:C4393] +synonym: "Senile nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:195383008] +is_obsolete: true + +[Term] +id: DOID:12864 +name: acrosyringeal nevus +synonym: "Acrosyringeal nevus" EXACT [NCI2004_11_17:C4739] +synonym: "Acrosyringeal nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:239117002] +is_obsolete: true + +[Term] +id: DOID:1287 +name: cardiovascular system disease +alt_id: DOID:73 +def: "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." [url:http\://en.wikipedia.org/wiki/Circulatory_system] +synonym: "disease of subdivision of hemolymphoid system" EXACT [] +xref: ICD9CM:429.2 +xref: MSH:D002318 +xref: NCI:C2931 +xref: SNOMEDCT_US_2015_03_01:155263000 +xref: SNOMEDCT_US_2015_03_01:194707003 +xref: SNOMEDCT_US_2015_03_01:195139006 +xref: SNOMEDCT_US_2015_03_01:195594006 +xref: SNOMEDCT_US_2015_03_01:266275004 +xref: SNOMEDCT_US_2015_03_01:266336005 +xref: SNOMEDCT_US_2015_03_01:49601007 +xref: UMLS_CUI:C0007222 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:12879 +name: Pars plana exudative cyst +synonym: "Exudative cyst of pars plana" EXACT [ICD9CM_2006:364.64] +synonym: "Exudative cyst of pars plana (disorder)" EXACT [SNOMEDCT_2005_07_31:63317005] +is_obsolete: true + +[Term] +id: DOID:12881 +name: idiopathic urticaria +synonym: "Idiopathic urticaria (disorder)" EXACT [SNOMEDCT_2005_07_31:42265009] +is_obsolete: true + +[Term] +id: DOID:12883 +name: hypochondriasis +def: "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness." [url:http\://en.wikipedia.org/wiki/Hypochondriasis] +synonym: "Hypochondria" EXACT [NCI2004_11_17:C9493] +synonym: "Hypochondriacal disorder" EXACT [SNOMEDCT_2005_07_31:192433006] +synonym: "hypochondriacal neurosis" EXACT [CSP2005:2483-6952] +xref: ICD10CM:F45.2 +xref: ICD10CM:F45.21 +xref: ICD9CM:300.7 +xref: MSH:D006998 +xref: NCI:C9493 +xref: SNOMEDCT_US_2015_03_01:154891008 +xref: SNOMEDCT_US_2015_03_01:18193002 +xref: SNOMEDCT_US_2015_03_01:192433006 +xref: UMLS_CUI:C0020604 +is_a: DOID:4737 ! somatoform disorder + +[Term] +id: DOID:12888 +name: Chlamydophila psittaci pneumonia +def: "An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum." [url:http\://en.wikipedia.org/wiki/Ornithosis, url:http\://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "louisiana pneumonia" EXACT [] +synonym: "Ornithosis with pneumonia" EXACT [SNOMEDCT_2005_07_31:186654009] +synonym: "Ornithosis with pneumonia" EXACT [SNOMEDCT_2005_07_31:195901002] +synonym: "Ornithosis with pneumonia" EXACT [ICD9CM_2006:073.0] +synonym: "Ornithosis with pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:81164001] +is_obsolete: true + +[Term] +id: DOID:12889 +name: Miller Fisher syndrome +def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." [url:http\://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification] +synonym: "Fisher's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:1767005] +synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [SNOMEDCT_2005_07_31:193175006] +synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [SNOMEDCT_2005_07_31:230548007] +xref: ICD10CM:G61.0 +xref: MSH:D019846 +xref: SNOMEDCT_US_2015_03_01:1767005 +xref: SNOMEDCT_US_2015_03_01:193175006 +xref: SNOMEDCT_US_2015_03_01:230548007 +xref: UMLS_CUI:C0393799 +is_a: DOID:12842 ! Guillain-Barre syndrome + +[Term] +id: DOID:1289 +name: neurodegenerative disease +alt_id: DOID:4874 +def: "A central nervous system disease that results_in the progressive deterioration of function or structure of neurons." [url:http\://en.wikipedia.org/wiki/Degenerative_disease, url:http\://en.wikipedia.org/wiki/Neurodegeneration] +synonym: "degenerative disease" EXACT [] +synonym: "Neurodegenerative disease" EXACT [NCI2004_11_17:C4802] +xref: ICD10CM:G31.9 +xref: MSH:D019636 +xref: NCI:C27090 +xref: SNOMEDCT_US_2015_03_01:362975008 +xref: UMLS_CUI:C0524851 +xref: UMLS_CUI:C1285162 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:12894 +name: Sjogren's syndrome +alt_id: DOID:416 +def: "A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Sicca syndrome" EXACT [ICD9CM_2006:710.2, SNOMEDCT_2005_07_31:156455009, SNOMEDCT_2005_07_31:268050000, SNOMEDCT_2005_07_31:83901003] +synonym: "Sjogren syndrome" EXACT [] +synonym: "xerodermosteosis" EXACT [CSP2005:0729-8405] +xref: ICD10CM:M35.0 +xref: ICD10CM:M35.00 +xref: ICD9CM:710.2 +xref: MSH:D012859 +xref: NCI:C26883 +xref: NCI:C70647 +xref: OMIM:270150 +xref: SNOMEDCT_US_2015_03_01:156455009 +xref: SNOMEDCT_US_2015_03_01:201444003 +xref: SNOMEDCT_US_2015_03_01:267875002 +xref: SNOMEDCT_US_2015_03_01:268050000 +xref: SNOMEDCT_US_2015_03_01:83901003 +xref: UMLS_CUI:C0086981 +xref: UMLS_CUI:C1527336 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:12895 +name: keratoconjunctivitis sicca +synonym: "KCS" EXACT [CSP2005:1114-9026] +synonym: "Keraconjunctivitis sicca" EXACT [SNOMEDCT_2005_07_31:268050000] +synonym: "Keraconjunctivitis sicca" EXACT [SNOMEDCT_2005_07_31:156455009] +synonym: "Keratoconjunctivitis sicca" EXACT [SNOMEDCT_2005_07_31:201444003] +synonym: "Keratoconjunctivitis sicca" EXACT [MTHICD9_2006:710.2] +synonym: "Keratoconjunctivitis sicca" EXACT [SNOMEDCT_2005_07_31:78946008] +synonym: "Keratoconjunctivitis sicca (disorder)" EXACT [SNOMEDCT_2005_07_31:302896008] +xref: MSH:D007638 +xref: SNOMEDCT_US_2015_03_01:156455009 +xref: SNOMEDCT_US_2015_03_01:201444003 +xref: SNOMEDCT_US_2015_03_01:268050000 +xref: SNOMEDCT_US_2015_03_01:302896008 +xref: SNOMEDCT_US_2015_03_01:78946008 +xref: UMLS_CUI:C0022575 +is_a: DOID:10140 ! dry eye syndrome + +[Term] +id: DOID:12897 +name: submandibular gland disease +xref: MSH:D013364 +xref: UMLS_CUI:C0038557 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:12899 +name: benign lymphoepithelial lesion of salivary gland +synonym: "benign lymphoepithelial lesion of salivary gland (disorder)" EXACT [SNOMEDCT_2005_07_31:45517002] +synonym: "Godwin tumor" EXACT [NCI2004_11_17:C3949] +xref: ICD10CM:K11.8 +xref: NCI:C3949 +xref: SNOMEDCT_US_2015_03_01:45517002 +xref: UMLS_CUI:C0266995 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:12900 +name: Mikulicz disease +synonym: "Mikulicz's disease" EXACT [SNOMEDCT_2005_07_31:196478007] +xref: ICD10CM:K11.8 +xref: MSH:D008882 +xref: NCI:C34819 +xref: SNOMEDCT_US_2015_03_01:196478007 +xref: SNOMEDCT_US_2015_03_01:7826003 +xref: UMLS_CUI:C0026103 +is_a: DOID:1400 ! lacrimal apparatus disease +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:12901 +name: necrotizing sialometaplasia +synonym: "Necrotizing sialometaplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:109769000] +xref: ICD10CM:K11.8 +xref: MSH:D012797 +xref: SNOMEDCT_US_2015_03_01:109769000 +xref: UMLS_CUI:C0037033 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:12904 +name: mucocele of salivary gland +synonym: "Mucocele of salivary gland (disorder)" EXACT [SNOMEDCT_2005_07_31:69825009] +synonym: "Mucocele of salivary gland unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:196509000] +synonym: "Mucous retention cyst of salivary gland" EXACT [MTHICD9_2006:527.6] +synonym: "Ranula" EXACT [SNOMEDCT_2005_07_31:155657002] +synonym: "Ranula (disorder)" EXACT [SNOMEDCT_2005_07_31:14919007] +synonym: "Salivary Cyst" EXACT [NCI2004_11_17:C27649] +synonym: "Salivary gland mucocele NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196512002] +xref: ICD10CM:K11.6 +xref: ICD9CM:527.6 +xref: NCI:C27649 +xref: SNOMEDCT_US_2015_03_01:196508008 +xref: SNOMEDCT_US_2015_03_01:196509000 +xref: SNOMEDCT_US_2015_03_01:196512002 +xref: SNOMEDCT_US_2015_03_01:69825009 +xref: UMLS_CUI:C0026686 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:12905 +name: sialolithiasis +synonym: "Salivary gland Stone" EXACT [NCI2004_11_17:C34994] +synonym: "Sialolith" EXACT [SNOMEDCT_2005_07_31:109767003] +synonym: "Sialolithiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:28826002] +synonym: "Sialolithiasis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196507003] +synonym: "Stone of salivary gland or duct" EXACT [MTHICD9_2006:527.5] +xref: ICD10CM:K11.5 +xref: ICD9CM:527.5 +xref: MSH:D015494 +xref: NCI:C34994 +xref: SNOMEDCT_US_2015_03_01:109767003 +xref: SNOMEDCT_US_2015_03_01:155656006 +xref: SNOMEDCT_US_2015_03_01:196507003 +xref: SNOMEDCT_US_2015_03_01:28826002 +xref: UMLS_CUI:C0036091 +is_a: DOID:10854 ! salivary gland disease + +[Term] +id: DOID:12910 +name: sickle-cell/Hb-C disease with crisis +synonym: "Sickle cell-hemoglobin C disease with crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:417517009] +is_obsolete: true + +[Term] +id: DOID:12918 +name: thromboangiitis obliterans +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Buerger's disease" EXACT [NCI2004_11_17:C35070] +synonym: "Buerger's disease" EXACT [CSP2005:0571-6915] +synonym: "Presenile gangrene" EXACT [MTHICD9_2006:443.1] +synonym: "Presenile gangrene (disorder)" EXACT [SNOMEDCT_2005_07_31:195299000] +synonym: "Thromboangiitis obliterans" EXACT [SNOMEDCT_2005_07_31:155432001] +synonym: "Thromboangiitis obliterans" EXACT [SNOMEDCT_2005_07_31:195298008] +synonym: "Thromboangiitis obliterans (disorder)" EXACT [SNOMEDCT_2005_07_31:52403007] +synonym: "Thromboangiitis obliterans [Buerger's disease]" EXACT [ICD9CM_2006:443.1] +synonym: "Thromboangiitis obliterans NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195300008] +xref: ICD10CM:I73.1 +xref: ICD9CM:443.1 +xref: MSH:D013919 +xref: NCI:C35070 +xref: OMIM:211480 +xref: SNOMEDCT_US_2015_03_01:155432001 +xref: SNOMEDCT_US_2015_03_01:195298008 +xref: SNOMEDCT_US_2015_03_01:195299000 +xref: SNOMEDCT_US_2015_03_01:195300008 +xref: SNOMEDCT_US_2015_03_01:52403007 +xref: UMLS_CUI:C0040021 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:12919 +name: Plasmodium ovale malaria +def: "A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria] +subset: zoonotic_infectious_disease +synonym: "Malariaby Plasmodium ovale" EXACT [MTHICD9_2006:084.3] +synonym: "Ovale malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:19341001] +xref: ICD10CM:B53.0 +xref: ICD9CM:084.3 +xref: SNOMEDCT_US_2015_03_01:19341001 +xref: UMLS_CUI:C0152072 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:12921 +name: childhood schizophrenia +synonym: "childhood Schizophrenia" EXACT [NCI2004_11_17:C35004] +synonym: "childhood schizophrenia" EXACT [CSP2005:2485-0932] +synonym: "childhood schizophrenia" EXACT [CSP2005:0634-6827] +synonym: "childhood schizophrenia NOS" EXACT [SNOMEDCT_2005_07_31:191699003] +synonym: "childhood schizophrenia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:231484006] +synonym: "Schizophrenic syndrome of childhood NOS" EXACT [MTHICD9_2006:299.9] +is_obsolete: true + +[Term] +id: DOID:12922 +name: acute undifferentiated schizophrenia +synonym: "acute schizophrenic episode" EXACT [SNOMEDCT_2005_07_31:191558000] +synonym: "acute schizophrenic episode (disorder)" EXACT [SNOMEDCT_2005_07_31:268617001] +synonym: "acute schizophrenic episode, unspecified state" EXACT [ICD9CM_2006:295.40] +is_obsolete: true + +[Term] +id: DOID:12923 +name: chronic undifferentiated schizophrenia +synonym: "chronic undifferentiated schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:29599000] +synonym: "Unspecified schizophrenia, chronic state" EXACT [ICD9CM_2006:295.92] +is_obsolete: true + +[Term] +id: DOID:12926 +name: hypodermyiasis +def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." [url:http\://en.wikipedia.org/wiki/Dermatobia_hominis, url:http\://en.wikipedia.org/wiki/Hypodermyiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] +xref: MSH:D007000 +xref: UMLS_CUI:C0020607 +is_a: DOID:11080 ! myiasis + +[Term] +id: DOID:12927 +name: screw worm infectious disease +def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." [url:http\://en.wikipedia.org/wiki/Chrysomya_bezziana, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] +xref: MSH:D012610 +xref: UMLS_CUI:C0036465 +is_a: DOID:11080 ! myiasis + +[Term] +id: DOID:12928 +name: nutritional cardiomyopathy +synonym: "Nutritional and metabolic cardiomyopathies (disorder)" EXACT [SNOMEDCT_2005_07_31:195023001] +synonym: "Nutritional and metabolic cardiomyopathy NOS" EXACT [SNOMEDCT_2005_07_31:195028005] +synonym: "Nutritional and metabolic cardiomyopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266243002] +is_obsolete: true + +[Term] +id: DOID:12929 +name: endocardial fibroelastosis +def: "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." [url:http\://en.wikipedia.org/wiki/Endocardial_fibroelastosis, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Elastomyofibrosis" EXACT [MTHICD9_2006:425.3] +xref: ICD10CM:I42.4 +xref: ICD9CM:425.3 +xref: MSH:D004695 +xref: NCI:C98922 +xref: OMIM:226000 +xref: OMIM:305300 +xref: SNOMEDCT_US_2015_03_01:65457005 +xref: UMLS_CUI:C0014117 +is_a: DOID:0050825 ! endocardium disease + +[Term] +id: DOID:1293 +name: labia minora carcinoma +synonym: "carcinoma of labia minora" RELATED [] +synonym: "Labia Minora cancer" EXACT [NCI2004_11_17:C9364] +xref: NCI:C9364 +xref: UMLS_CUI:C1334357 +is_a: DOID:1243 ! labia minora cancer +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:12930 +name: dilated cardiomyopathy +def: "An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart." [url:http\://en.wikipedia.org/wiki/Dilated_cardiomyopathy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +synonym: "Congestive cardiomyopathy" RELATED [SNOMEDCT_2005_07_31:195018001] +synonym: "Familial dilated cardiomyopathy" RELATED [MSH:C536231] +synonym: "Idiopathic dilation cardiomyopathy" RELATED [MSH:C536277] +synonym: "primary dilated cardiomyopathy" EXACT [] +xref: EFO:0000407 +xref: ICD10CM:I42.0 +xref: KEGG:05414 +xref: MSH:D002311 +xref: NCI:C84673 +xref: OMIM:115200 +xref: OMIM:300069 +xref: OMIM:302045 +xref: OMIM:600884 +xref: OMIM:601154 +xref: OMIM:601493 +xref: OMIM:601494 +xref: OMIM:604145 +xref: OMIM:604288 +xref: OMIM:604765 +xref: OMIM:605362 +xref: OMIM:605582 +xref: OMIM:606685 +xref: OMIM:607482 +xref: OMIM:607487 +xref: OMIM:608569 +xref: OMIM:609909 +xref: OMIM:609915 +xref: OMIM:611407 +xref: OMIM:611615 +xref: OMIM:611878 +xref: OMIM:611879 +xref: OMIM:611880 +xref: OMIM:612158 +xref: OMIM:612877 +xref: OMIM:613122 +xref: OMIM:613172 +xref: OMIM:613252 +xref: OMIM:613286 +xref: OMIM:613424 +xref: OMIM:613426 +xref: OMIM:613642 +xref: OMIM:613694 +xref: OMIM:613697 +xref: OMIM:613740 +xref: OMIM:613881 +xref: OMIM:614672 +xref: OMIM:615184 +xref: OMIM:615235 +xref: OMIM:615916 +xref: ORDO:217604 +xref: SNOMEDCT_US_2015_03_01:195018001 +xref: SNOMEDCT_US_2015_03_01:195021004 +xref: SNOMEDCT_US_2015_03_01:389995008 +xref: SNOMEDCT_US_2015_03_01:399020009 +xref: SNOMEDCT_US_2015_03_01:74368002 +xref: UMLS_CUI:C0007193 +is_a: DOID:0060036 ! intrinsic cardiomyopathy + +[Term] +id: DOID:12932 +name: endomyocardial fibrosis +synonym: "(Becker's disease) or (obscure African cardiomyopathy)" EXACT [SNOMEDCT_2005_07_31:195016002] +synonym: "African endomyocardial fibrosis" EXACT [SNOMEDCT_2005_07_31:398754006] +synonym: "Becker's disease" EXACT [SNOMEDCT_2005_07_31:387732009] +synonym: "Endomyocardial sclerosis" EXACT [SNOMEDCT_2005_07_31:111507009] +synonym: "Obscure African cardiomyopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:266242007] +xref: ICD9CM:425.0 +xref: MSH:D004719 +xref: NCI:C34585 +xref: SNOMEDCT_US_2015_03_01:111507009 +xref: SNOMEDCT_US_2015_03_01:123264005 +xref: SNOMEDCT_US_2015_03_01:155351008 +xref: SNOMEDCT_US_2015_03_01:266301006 +xref: SNOMEDCT_US_2015_03_01:30293000 +xref: SNOMEDCT_US_2015_03_01:398716006 +xref: UMLS_CUI:C0553980 +is_a: DOID:397 ! restrictive cardiomyopathy + +[Term] +id: DOID:12934 +name: Kearns-Sayre syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Kearns-Sayre syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:25792000] +xref: ICD10CM:H49.81 +xref: MSH:D007625 +xref: NCI:C84798 +xref: OMIM:530000 +xref: SNOMEDCT_US_2015_03_01:25792000 +xref: SNOMEDCT_US_2015_03_01:51464001 +xref: SNOMEDCT_US_2015_03_01:77835008 +xref: UMLS_CUI:C0022541 +is_a: DOID:12558 ! chronic progressive external ophthalmoplegia + +[Term] +id: DOID:12935 +name: alcoholic cardiomyopathy +synonym: "Alcohol-induced heart muscle disease" EXACT [SNOMEDCT_2005_07_31:155352001] +synonym: "Alcoholic cardiomyopathy" EXACT [ICD9CM_2006:425.5] +synonym: "Dilated cardiomyopathy secondary to alcohol (disorder)" EXACT [SNOMEDCT_2005_07_31:83521008] +xref: ICD10CM:I42.6 +xref: ICD9CM:425.5 +xref: MSH:D002310 +xref: NCI:C53653 +xref: SNOMEDCT_US_2015_03_01:155352001 +xref: SNOMEDCT_US_2015_03_01:83521008 +xref: UMLS_CUI:C0007192 +is_a: DOID:3978 ! extrinsic cardiomyopathy + +[Term] +id: DOID:12936 +name: secondary cardiomyopathy +synonym: "secondary cardiomyopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:89600009] +synonym: "secondary cardiomyopathy NOS" EXACT [SNOMEDCT_2005_07_31:195035002] +synonym: "secondary cardiomyopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266244008] +synonym: "secondary cardiomyopathy, unspecified" EXACT [ICD9CM_2006:425.9] +is_obsolete: true + +[Term] +id: DOID:1294 +name: vulva carcinoma +def: "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://www.cancer.gov/cancertopics/types/vulvar] +synonym: "carcinoma of vulva" RELATED [] +synonym: "Vulvar carcinoma" EXACT [NCI2004_11_17:C4866] +xref: NCI:C4866 +xref: UMLS_CUI:C0677055 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:12958 +name: paralytic lagophthalmos +synonym: "Paralytic lagophthalmos (finding)" EXACT [SNOMEDCT_2005_07_31:59890007] +xref: ICD10CM:H02.23 +xref: ICD9CM:374.21 +xref: SNOMEDCT_US_2015_03_01:193938000 +xref: SNOMEDCT_US_2015_03_01:59890007 +xref: UMLS_CUI:C0155197 +is_a: DOID:12959 ! lagophthalmos + +[Term] +id: DOID:12959 +name: lagophthalmos +synonym: "Lagophthalmos (finding)" EXACT [SNOMEDCT_2005_07_31:60735000] +synonym: "Lagophthalmos NOS (finding)" EXACT [SNOMEDCT_2005_07_31:193941009] +synonym: "Lagophthalmos, unspecified" EXACT [ICD9CM_2006:374.20] +synonym: "Unspecified lagophthalmos (finding)" EXACT [SNOMEDCT_2005_07_31:193937005] +xref: ICD10CM:H02.2 +xref: ICD10CM:H02.20 +xref: ICD9CM:374.2 +xref: ICD9CM:374.20 +xref: SNOMEDCT_US_2015_03_01:193936001 +xref: SNOMEDCT_US_2015_03_01:193937005 +xref: SNOMEDCT_US_2015_03_01:193941009 +xref: SNOMEDCT_US_2015_03_01:60735000 +xref: UMLS_CUI:C0152226 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:12960 +name: acrocephalosyndactylia +alt_id: DOID:0080004 +def: "A synostosis that results_in craniosynostosis and syndactyly." [url:http\://en.wikipedia.org/wiki/Acrocephalosyndactylia, url:http\://www.netterimages.com/image/acrocephalosyndactylia.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Apert syndrome" EXACT [SNOMEDCT_2005_07_31:205257004] +xref: ICD9CM:755.55 +xref: MSH:D000168 +xref: NCI:C34348 +xref: OMIM:101200 +xref: SNOMEDCT_US_2015_03_01:205257004 +xref: SNOMEDCT_US_2015_03_01:268262006 +xref: SNOMEDCT_US_2015_03_01:63661009 +xref: UMLS_CUI:C1510455 +is_a: DOID:11971 ! synostosis + +[Term] +id: DOID:12961 +name: Poland syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: " Poland sequence" RELATED [] +synonym: "Poland anomaly (disorder)" EXACT [SNOMEDCT_2005_07_31:38371006] +synonym: "Poland's syndactyly" EXACT [] +xref: ICD10CM:Q79.8 +xref: MSH:D011045 +xref: NCI:C85017 +xref: OMIM:173800 +xref: SNOMEDCT_US_2015_03_01:205524002 +xref: SNOMEDCT_US_2015_03_01:38371006 +xref: UMLS_CUI:C0032357 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:12965 +name: subleukemic leukemia +def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal." [url:http\://medical-dictionary.thefreedictionary.com/subleukemic+leukemia] +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:12969 +name: central nervous system leukemia +def: "A hematologic cancer located_in the central nervous system." [url:http\://www.springerlink.com/content/gl61tx644217n938/] +synonym: "Leukemia of the CNS" EXACT [NCI2004_11_17:C5440] +xref: NCI:C5440 +xref: UMLS_CUI:C1332884 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:12971 +name: hereditary spherocytosis +def: "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape." [url:http\://en.wikipedia.org/wiki/Hereditary_spherocytosis] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Congenital spherocytic hemolytic anemia" EXACT [MTHICD9_2006:282.0] +synonym: "Minkowski Chauffard syndrome" EXACT [CSP2005:0427-1870] +synonym: "spherocytic anemia" EXACT [] +xref: ICD10CM:D58.0 +xref: ICD9CM:282.0 +xref: MSH:D013103 +xref: NCI:C97074 +xref: OMIM:182900 +xref: OMIM:270970 +xref: OMIM:612653 +xref: OMIM:612690 +xref: ORDO:822 +xref: SNOMEDCT_US_2015_03_01:154795009 +xref: SNOMEDCT_US_2015_03_01:55995005 +xref: UMLS_CUI:C0037889 +is_a: DOID:589 ! congenital hemolytic anemia + +[Term] +id: DOID:12972 +name: intrapelvic lymph node leukemic reticuloendotheliosis +synonym: "Leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [ICD9CM_2006:202.46] +synonym: "Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93145002] +synonym: "Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188650008] +xref: ICD9CM:202.46 +xref: SNOMEDCT_US_2015_03_01:188650008 +xref: SNOMEDCT_US_2015_03_01:93145002 +xref: UMLS_CUI:C0153831 +is_a: DOID:10619 ! lymph node cancer +is_a: DOID:285 ! hairy cell leukemia + +[Term] +id: DOID:12973 +name: secondary malignant neoplasm of intrapelvic lymph node +synonym: "metastasis to intrapelvic lymph node" EXACT [SNOMEDCT_2005_07_31:154562000] +synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes" EXACT [ICD9CM_2006:196.6] +synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188423005] +synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188429009] +synonym: "secondary malignant neoplasm of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94350006] +is_obsolete: true + +[Term] +id: DOID:12978 +name: Plasmodium vivax malaria +def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria] +synonym: "Malaria by Plasmodium vivax" EXACT [MTHICD9_2006:084.1] +synonym: "Vivax Malaria" EXACT [NCI2004_11_17:C34800] +synonym: "Vivax malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:27052006] +synonym: "Vivax malaria [benign tertian]" EXACT [ICD9CM_2006:084.1] +xref: ICD10CM:B51 +xref: ICD10CM:B51.9 +xref: ICD9CM:084.1 +xref: MSH:D016780 +xref: NCI:C34800 +xref: SNOMEDCT_US_2015_03_01:27052006 +xref: UMLS_CUI:C0024537 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:12983 +name: transient disorder of initiating or maintaining sleep +is_obsolete: true + +[Term] +id: DOID:12984 +name: vagus nerve neoplasm +synonym: "neoplasm of vagus nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126976007] +synonym: "Vagus nerve tumors" EXACT [NCI2004_11_17:C5831] +xref: NCI:C5831 +xref: SNOMEDCT_US_2015_03_01:126976007 +xref: UMLS_CUI:C1263901 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:12985 +name: functional disorder of polymorphonuclear neutrophils +synonym: "Functional disorder of polymorphonuclear neutrophils (disorder)" EXACT [SNOMEDCT_2005_07_31:267543009] +is_obsolete: true + +[Term] +id: DOID:12986 +name: leukostasis +synonym: "Leukostasis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30419000] +xref: MSH:D018921 +xref: NCI:C4062 +xref: SNOMEDCT_US_2015_03_01:30419000 +xref: UMLS_CUI:C0282548 +is_a: DOID:9500 ! leukocyte disease + +[Term] +id: DOID:12987 +name: agranulocytosis +synonym: "Agranulocytosis (disorder)" EXACT [SNOMEDCT_2005_07_31:17182001] +synonym: "Agranulocytosis (finding)" EXACT [SNOMEDCT_2005_07_31:165508008] +synonym: "Agranulocytosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191350006] +synonym: "granulocytopenia" EXACT [CSP2005:0427-6195] +synonym: "granulocytopenia" EXACT [NCI2004_11_17:C2863] +synonym: "Granulocytopenia (disorder)" EXACT [SNOMEDCT_2005_07_31:310589001] +synonym: "Granulocytopenic disorder" EXACT [SNOMEDCT_2005_07_31:417672002] +synonym: "Granulopenia" EXACT [SNOMEDCT_2005_07_31:72885007] +xref: ICD10CM:D70 +xref: MSH:D000380 +xref: NCI:C2863 +xref: SNOMEDCT_US_2015_03_01:142919000 +xref: SNOMEDCT_US_2015_03_01:154830007 +xref: SNOMEDCT_US_2015_03_01:165508008 +xref: SNOMEDCT_US_2015_03_01:17182001 +xref: SNOMEDCT_US_2015_03_01:191336001 +xref: SNOMEDCT_US_2015_03_01:191350006 +xref: SNOMEDCT_US_2015_03_01:310589001 +xref: SNOMEDCT_US_2015_03_01:417672002 +xref: SNOMEDCT_US_2015_03_01:72885007 +xref: UMLS_CUI:C0001824 +is_a: DOID:615 ! leukopenia + +[Term] +id: DOID:12995 +name: conduct disorder +def: "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated." [url:http\://en.wikipedia.org/wiki/Conduct_disorder, url:http\://www.nmha.org/go/conduct-disorder] +xref: EFO:0004216 +xref: ICD10CM:F91 +xref: ICD10CM:F91.9 +xref: ICD9CM:312.9 +xref: MSH:D019955 +xref: NCI:C89329 +xref: SNOMEDCT_US_2015_03_01:154945001 +xref: SNOMEDCT_US_2015_03_01:192104004 +xref: SNOMEDCT_US_2015_03_01:192106002 +xref: SNOMEDCT_US_2015_03_01:192597006 +xref: SNOMEDCT_US_2015_03_01:192603009 +xref: SNOMEDCT_US_2015_03_01:268782006 +xref: SNOMEDCT_US_2015_03_01:268785008 +xref: SNOMEDCT_US_2015_03_01:430909002 +xref: UMLS_CUI:C0149654 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:12996 +name: acute dacryocystitis +synonym: "acute dacryocystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25470000] +synonym: "Dacryocystitis - acute" EXACT [SNOMEDCT_2005_07_31:193986007] +xref: ICD10CM:H04.32 +xref: ICD9CM:375.32 +xref: SNOMEDCT_US_2015_03_01:193986007 +xref: SNOMEDCT_US_2015_03_01:25470000 +xref: UMLS_CUI:C0155237 +is_a: DOID:9938 ! dacryocystitis + +[Term] +id: DOID:12997 +name: Phlegmonous dacryocystitis +synonym: "Phlegmonous dacryocystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:64324003] +xref: ICD10CM:H04.31 +xref: ICD9CM:375.33 +xref: SNOMEDCT_US_2015_03_01:193988008 +xref: SNOMEDCT_US_2015_03_01:64324003 +xref: UMLS_CUI:C0155238 +is_a: DOID:9938 ! dacryocystitis + +[Term] +id: DOID:130 +name: female genitalia nevus +is_obsolete: true + +[Term] +id: DOID:13001 +name: carotid stenosis +synonym: "Carotid artery stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:64586002] +synonym: "Stenosis, carotid artery" EXACT [SNOMEDCT_2005_07_31:195181000] +xref: MSH:D016893 +xref: NCI:C95804 +xref: SNOMEDCT_US_2015_03_01:195181000 +xref: SNOMEDCT_US_2015_03_01:64586002 +xref: UMLS_CUI:C0007282 +is_a: DOID:3407 ! carotid artery disease + +[Term] +id: DOID:13002 +name: subclavian steal syndrome +synonym: "Subclavian artery stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:300921000] +synonym: "subclavian steal phenomenon" EXACT [] +synonym: "subclavian steal steno-occlusive disease" EXACT [] +xref: ICD9CM:435.2 +xref: MSH:D013349 +xref: NCI:C35044 +xref: SNOMEDCT_US_2015_03_01:15258001 +xref: SNOMEDCT_US_2015_03_01:300921000 +xref: UMLS_CUI:C0038531 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:13003 +name: vertebrobasilar insufficiency +synonym: "Vertebro-basilar insufficiency" EXACT [SNOMEDCT_2005_07_31:195196001] +synonym: "Vertebro-basilar insufficiency" EXACT [SNOMEDCT_2005_07_31:266314007] +synonym: "Vertebro-basilar insufficiency" EXACT [SNOMEDCT_2005_07_31:155404005] +synonym: "Vertebrobasilar arterial insufficiency" EXACT [SNOMEDCT_2005_07_31:64009001] +synonym: "Vertebrobasilar artery syndrome" EXACT [ICD9CM_2006:435.3] +synonym: "Vertebrobasilar artery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:195199008] +synonym: "Vertebrobasilar insufficiency" EXACT [SNOMEDCT_2005_07_31:394517009] +xref: ICD10CM:G45.0 +xref: ICD9CM:435.3 +xref: MSH:D014715 +xref: SNOMEDCT_US_2015_03_01:155404005 +xref: SNOMEDCT_US_2015_03_01:195196001 +xref: SNOMEDCT_US_2015_03_01:195199008 +xref: SNOMEDCT_US_2015_03_01:266314007 +xref: SNOMEDCT_US_2015_03_01:394517009 +xref: SNOMEDCT_US_2015_03_01:64009001 +xref: UMLS_CUI:C0042568 +is_a: DOID:224 ! transient cerebral ischemia + +[Term] +id: DOID:13005 +name: intra-abdominal lymph node mast cell malignancy +synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [ICD9CM_2006:202.63] +synonym: "Mast cell malignancy of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188664008] +xref: ICD9CM:202.63 +xref: SNOMEDCT_US_2015_03_01:188664008 +xref: UMLS_CUI:C0153844 +is_a: DOID:10619 ! lymph node cancer + +[Term] +id: DOID:1301 +name: RNA virus infectious disease +alt_id: DOID:1330 +alt_id: DOID:1337 +alt_id: DOID:14084 +alt_id: DOID:1892 +alt_id: DOID:2872 +alt_id: DOID:995 +def: "A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material." [url:http\://en.wikipedia.org/wiki/RNA_viruses] +synonym: "arbovirus hemorrhagic fever" EXACT [] +synonym: "Hemorrhagic Fever" EXACT [NCI2004_11_17:C36169] +synonym: "hemorrhagic fever" EXACT [CSP2005:3100-2478] +synonym: "Mite-Born Hemorrhagic Fever" EXACT [NCI2004_11_17:C35410] +synonym: "mite-borne hemorrhagic fever" EXACT [] +synonym: "Mite-borne hemorrhagic fever (disorder)" EXACT [SNOMEDCT_2005_07_31:186601006] +synonym: "Mosquito-borne haemorrhagic fever" EXACT [SNOMEDCT_2005_07_31:186598001] +synonym: "Mosquito-borne hemorrhagic fever" EXACT [ICD9CM_2006:065.4] +synonym: "mosquito-borne hemorrhagic fever" EXACT [] +synonym: "Mosquito-borne hemorrhagic fever (disorder)" EXACT [SNOMEDCT_2005_07_31:111847008] +synonym: "rodent-borne hemorrhagic fever" EXACT [] +synonym: "Rodent-borne hemorrhagic fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240494005] +synonym: "tick-borne hemorrhagic fever" EXACT [] +synonym: "Unspecified viral haemorrhagic fever" EXACT [SNOMEDCT_2005_07_31:186736002] +synonym: "Unspecified viral hemorrhagic fever (disorder)" EXACT [SNOMEDCT_2005_07_31:187415006] +synonym: "Viral Hemorrhagic Fever" EXACT [NCI2004_11_17:C36170] +synonym: "viral hemorrhagic fever" EXACT [] +synonym: "Viral hemorrhagic fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240523007] +is_obsolete: true + +[Term] +id: DOID:13014 +name: shipyard eye +synonym: "EKC" EXACT [SNOMEDCT_2005_07_31:60548004] +synonym: "Epidemic Keratoconjunctivitis" EXACT [NCI2004_11_17:C34590] +synonym: "Epidemic keratoconjunctivitis" EXACT [ICD9CM_2006:077.1] +xref: ICD10CM:B30.0 +xref: ICD9CM:077.1 +xref: NCI:C34590 +xref: SNOMEDCT_US_2015_03_01:60548004 +xref: UMLS_CUI:C0014493 +is_a: DOID:9368 ! keratoconjunctivitis + +[Term] +id: DOID:13019 +name: cryptococcal gastroenteritis +def: "A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain." [url:http\://smj.sma.org.sg/4911/4911cr4.pdf, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf] +synonym: "Cryptococcal Gastroenteritis" EXACT [NCI2004_11_17:C35590] +synonym: "Cryptococcal gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:35974005] +is_obsolete: true + +[Term] +id: DOID:13020 +name: pulmonary cryptococcosis +def: "A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing." [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/17312037, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis] +synonym: "Cryptococcal Pneumonia" EXACT [NCI2004_11_17:C35361] +is_obsolete: true + +[Term] +id: DOID:13021 +name: AIDS-related cryptococcosis +def: "A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +is_obsolete: true + +[Term] +id: DOID:13023 +name: sickle cell trait +synonym: "Haemoglobin S trait" EXACT [SNOMEDCT_2005_07_31:154797001] +synonym: "Hb-S trait" EXACT [MTHICD9_2006:282.5] +synonym: "Sickle cell trait (disorder)" EXACT [SNOMEDCT_2005_07_31:16402000] +synonym: "Sickle-cell trait" EXACT [ICD9CM_2006:282.5] +is_obsolete: true + +[Term] +id: DOID:13025 +name: retinopathy of prematurity +synonym: "premature retinopathy" EXACT [CSP2005:1114-9578] +synonym: "Retinopathy of prematurity" EXACT [SNOMEDCT_2005_07_31:155110004] +synonym: "Retinopathy of prematurity (disorder)" EXACT [SNOMEDCT_2005_07_31:415297005] +synonym: "Retrolental Fibroplasia" EXACT [NCI2004_11_17:C34982] +synonym: "Retrolental fibroplasia" EXACT [ICD9CM_2006:362.21] +synonym: "Retrolental fibroplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:74277007] +xref: ICD10CM:H35.1 +xref: ICD10CM:H35.10 +xref: ICD10CM:H35.17 +xref: ICD9CM:362.20 +xref: ICD9CM:362.21 +xref: MSH:D012178 +xref: NCI:C34982 +xref: SNOMEDCT_US_2015_03_01:155110004 +xref: SNOMEDCT_US_2015_03_01:415297005 +xref: SNOMEDCT_US_2015_03_01:74277007 +xref: UMLS_CUI:C0035344 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:13026 +name: lobomycosis +def: "A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions." [url:http\://www.cdc.gov/EID/content/15/8/1301.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html] +synonym: "Cutaneous blastomycosis" RELATED [] +synonym: "Cutaneous lobomycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:240749000] +synonym: "infection by Loboa loboi" EXACT [MTHICD9_2006:116.2] +xref: ICD10CM:B48.0 +xref: ICD9CM:116.2 +xref: MSH:D060368 +xref: SNOMEDCT_US_2015_03_01:240749000 +xref: SNOMEDCT_US_2015_03_01:47306003 +xref: UMLS_CUI:C0152066 +is_a: DOID:1563 ! dermatomycosis + +[Term] +id: DOID:13027 +name: transient global amnesia +def: "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories." [url:http\://emedicine.medscape.com/article/1160964-overview, url:http\://en.wikipedia.org/wiki/Transient_global_amnesia] +xref: ICD10CM:G45.4 +xref: ICD9CM:437.7 +xref: MSH:D020236 +xref: NCI:C85198 +xref: SNOMEDCT_US_2015_03_01:195202003 +xref: SNOMEDCT_US_2015_03_01:230736007 +xref: SNOMEDCT_US_2015_03_01:366963000 +xref: SNOMEDCT_US_2015_03_01:367187006 +xref: UMLS_CUI:C0338591 +is_a: DOID:10914 ! amnestic disorder + +[Term] +id: DOID:13031 +name: balanoposthitis +synonym: "Balanoposthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:46090001] +synonym: "Balanoposthitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198024008] +xref: ICD10CM:N47.6 +xref: ICD9CM:607.1 +xref: SNOMEDCT_US_2015_03_01:198020004 +xref: SNOMEDCT_US_2015_03_01:198024008 +xref: SNOMEDCT_US_2015_03_01:46090001 +xref: UMLS_CUI:C0004691 +is_a: DOID:1529 ! penile disease + +[Term] +id: DOID:13032 +name: Trichomonas balanoposthitis +def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin." [url:http\://emedicine.medscape.com/article/230617-overview] +synonym: "trichomonal balanoposthitis" EXACT [] +synonym: "Trichomonal balanoposthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:249414000] +synonym: "Trichomonal balanoposthitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:236747009] +synonym: "Trichomonas Balanoposthitis" EXACT [NCI2004_11_17:C35406] +is_obsolete: true + +[Term] +id: DOID:13033 +name: balanitis +synonym: "Balanitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44882003] +synonym: "Balanitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:266572002] +xref: ICD10CM:N48.1 +xref: MSH:D001446 +xref: NCI:C26705 +xref: SNOMEDCT_US_2015_03_01:155928003 +xref: SNOMEDCT_US_2015_03_01:198020004 +xref: SNOMEDCT_US_2015_03_01:198021000 +xref: SNOMEDCT_US_2015_03_01:266572002 +xref: SNOMEDCT_US_2015_03_01:371163003 +xref: SNOMEDCT_US_2015_03_01:44882003 +xref: UMLS_CUI:C0004690 +is_a: DOID:1529 ! penile disease + +[Term] +id: DOID:13034 +name: relapsing fever +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse." [url:http\://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html] +subset: gram-negative_bacterial_infectious_disease +xref: ICD10CM:A68 +xref: ICD10CM:A68.9 +xref: ICD9CM:087 +xref: ICD9CM:087.9 +xref: MSH:D012061 +xref: SNOMEDCT_US_2015_03_01:186820006 +xref: SNOMEDCT_US_2015_03_01:186822003 +xref: SNOMEDCT_US_2015_03_01:187374004 +xref: SNOMEDCT_US_2015_03_01:420079008 +xref: SNOMEDCT_US_2015_03_01:46107006 +xref: UMLS_CUI:C0035021 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13035 +name: louse-borne relapsing fever +def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." [url:http\://emedicine.medscape.com/article/787000-overview#a0104] +subset: gram-negative_bacterial_infectious_disease +synonym: "Louse-borne relapsing fever (disorder)" EXACT [SNOMEDCT_2005_07_31:14683004] +synonym: "Relapsing fever, louse-borne" EXACT [ICD9CM_2006:087.0] +xref: ICD10CM:A68.0 +xref: ICD9CM:087.0 +xref: SNOMEDCT_US_2015_03_01:14683004 +xref: UMLS_CUI:C0152061 +is_a: DOID:13034 ! relapsing fever + +[Term] +id: DOID:13036 +name: tick-borne relapsing fever +def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." [url:http\://emedicine.medscape.com/article/787000-overview#a0104, url:http\://en.wikipedia.org/wiki/Relapsing_fever] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Relapsing fever, tick-borne" EXACT [ICD9CM_2006:087.1] +synonym: "Tick-borne relapsing fever (disorder)" EXACT [SNOMEDCT_2005_07_31:10301003] +synonym: "Tick-borne relapsing fever NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186821005] +xref: ICD10CM:A68.1 +xref: ICD9CM:087.1 +xref: NCI:C34976 +xref: SNOMEDCT_US_2015_03_01:10301003 +xref: SNOMEDCT_US_2015_03_01:186821005 +xref: UMLS_CUI:C0035022 +is_a: DOID:13034 ! relapsing fever + +[Term] +id: DOID:13037 +name: mechanical lagophthalmos +synonym: "Mechanical lagophthalmos (disorder)" EXACT [SNOMEDCT_2005_07_31:21783006] +xref: ICD10CM:H02.22 +xref: ICD9CM:374.22 +xref: SNOMEDCT_US_2015_03_01:193939008 +xref: SNOMEDCT_US_2015_03_01:21783006 +xref: UMLS_CUI:C0155198 +is_a: DOID:12959 ! lagophthalmos + +[Term] +id: DOID:13038 +name: cicatricial lagophthalmos +synonym: "Cicatricial lagophthalmos (finding)" EXACT [SNOMEDCT_2005_07_31:9042000] +xref: ICD10CM:H02.21 +xref: ICD9CM:374.23 +xref: SNOMEDCT_US_2015_03_01:193940005 +xref: SNOMEDCT_US_2015_03_01:9042000 +xref: UMLS_CUI:C0155199 +is_a: DOID:12959 ! lagophthalmos + +[Term] +id: DOID:13040 +name: syphilitic optic atrophy +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:22386003] +is_obsolete: true + +[Term] +id: DOID:13042 +name: persistent fetal circulation syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] +synonym: "Fetal circulation" EXACT [SNOMEDCT_2005_07_31:204507004] +synonym: "Persistent fetal circulation" EXACT [ICD9CM_2006:747.83] +synonym: "Persistent fetal circulation (disorder)" EXACT [SNOMEDCT_2005_07_31:206597007] +synonym: "Persistent fetal circulation syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:35604006] +synonym: "persistent pulmonary hypertension of the newborn" EXACT [CSP2005:2595-6954] +synonym: "persistent pulmonary hypertension of the newborn" EXACT [CSP2005:0723-5955] +synonym: "Persistent pulmonary hypertension of the newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:233815004] +xref: ICD10CM:P29.3 +xref: ICD9CM:747.83 +xref: MSH:D010547 +xref: NCI:C85006 +xref: OMIM:265380 +xref: SNOMEDCT_US_2015_03_01:204507004 +xref: SNOMEDCT_US_2015_03_01:206597007 +xref: SNOMEDCT_US_2015_03_01:233815004 +xref: SNOMEDCT_US_2015_03_01:35604006 +xref: UMLS_CUI:C0031190 +is_a: DOID:6432 ! pulmonary hypertension + +[Term] +id: DOID:13046 +name: acute sphenoidal sinusitis +def: "A sphenoid sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis] +synonym: "acute sphenoidal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:77919000] +synonym: "Sphenoidal sinus -acute" EXACT [SNOMEDCT_2005_07_31:155501004] +synonym: "Sphenoidal sinus -acute" EXACT [SNOMEDCT_2005_07_31:266378004] +xref: ICD10CM:J01.3 +xref: ICD10CM:J01.30 +xref: ICD9CM:461.3 +xref: SNOMEDCT_US_2015_03_01:155501004 +xref: SNOMEDCT_US_2015_03_01:266378004 +xref: SNOMEDCT_US_2015_03_01:77919000 +xref: UMLS_CUI:C0155807 +is_a: DOID:10794 ! sphenoid sinusitis + +[Term] +id: DOID:13047 +name: Ancylostoma braziliense ancylostomiasis +def: "An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720113/pdf/v090p00998.pdf] +synonym: "Ancylostomiasis due to Ancylostoma Braziliense" EXACT [NCI2004_11_17:C35175] +synonym: "Ancylostomiasis due to ancylostoma braziliense" EXACT [ICD9CM_2006:126.2] +synonym: "Ancylostomiasis due to Ancylostoma braziliense (disorder)" EXACT [SNOMEDCT_2005_07_31:22728002] +is_obsolete: true + +[Term] +id: DOID:13049 +name: Ancylostoma duodenale ancylostomiasis +def: "An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia." [url:http\://en.wikipedia.org/wiki/Ancylostoma_duodenale] +synonym: "Ancylostomiasis due to Ancylostoma Duodenale" EXACT [NCI2004_11_17:C34374] +synonym: "Ancylostomiasis due to Ancylostoma duodenale" EXACT [SNOMEDCT_2005_07_31:85807000] +synonym: "Ancylostomiasis due to Ancylostoma duodenale (disorder)" EXACT [SNOMEDCT_2005_07_31:7386008] +is_obsolete: true + +[Term] +id: DOID:1305 +name: AIDS dementia complex +def: "A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." [url:http\://en.wikipedia.org/wiki/AIDS_dementia_complex] +subset: zoonotic_infectious_disease +synonym: "acquired immune deficiency syndrome dementia complex" EXACT [SNOMEDCT_2005_07_31:192178000] +synonym: "AIDS Dementia" EXACT [NCI2004_11_17:C2864] +synonym: "HIV associated cognitive and motor complex" EXACT [CSP2005:1560-6280] +synonym: "HIV-associated dementia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:13050 +name: corpus luteum cyst +xref: ICD9CM:620.1 +xref: UMLS_CUI:C0156361 +is_a: DOID:5119 ! ovarian cyst + +[Term] +id: DOID:1306 +name: HIV encephalopathy +def: "An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change." [url:http\://emedicine.medscape.com/article/1166894-overview] +subset: zoonotic_infectious_disease +synonym: "AIDS Encephalopathy" EXACT [NCI2004_11_17:C3715] +synonym: "Human immunodefiency virus encephalopathy" EXACT [SNOMEDCT_2005_07_31:31363004] +is_obsolete: true + +[Term] +id: DOID:13060 +name: traumatic glaucoma +synonym: "Glaucoma associated with ocular trauma" EXACT [ICD9CM_2006:365.65] +synonym: "Glaucoma associated with ocular trauma (disorder)" EXACT [SNOMEDCT_2005_07_31:68241007] +xref: ICD9CM:365.65 +xref: SNOMEDCT_US_2015_03_01:68241007 +xref: UMLS_CUI:C0339594 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:13063 +name: moderate recurrent major depression +synonym: "Major depressive disorder, recurrent episode, moderate degree" EXACT [ICD9CM_2006:296.32] +synonym: "Moderate recurrent major depression (disorder)" EXACT [SNOMEDCT_2005_07_31:18818009] +synonym: "recurrent depressive disorder, current episode moderate (disorder)" EXACT [SNOMEDCT_2005_07_31:192376009] +is_obsolete: true + +[Term] +id: DOID:13068 +name: renal osteodystrophy +synonym: "renal rickets" EXACT [SNOMEDCT_2005_07_31:197667002] +xref: ICD10CM:N25.0 +xref: ICD9CM:588.0 +xref: MSH:D012080 +xref: SNOMEDCT_US_2015_03_01:155858005 +xref: SNOMEDCT_US_2015_03_01:16726004 +xref: SNOMEDCT_US_2015_03_01:197668007 +xref: SNOMEDCT_US_2015_03_01:266617009 +xref: UMLS_CUI:C0035086 +is_a: DOID:11705 ! impaired renal function disease + +[Term] +id: DOID:1307 +name: dementia +def: "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] +xref: ICD9CM:290.8 +xref: UMLS_CUI:C0154319 +is_a: DOID:1561 ! cognitive disorder + +[Term] +id: DOID:13072 +name: acquired hyperkeratosis +synonym: "acquired Keratoderma" EXACT [NCI2004_11_17:C34746] +synonym: "acquired keratoderma" EXACT [SNOMEDCT_2005_07_31:20637002] +synonym: "acquired keratoderma (disorder)" EXACT [SNOMEDCT_2005_07_31:400166009] +synonym: "acquired keratoderma NOS" EXACT [SNOMEDCT_2005_07_31:201064004] +synonym: "acquired keratoderma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267805003] +synonym: "Keratoderma - acquired" EXACT [SNOMEDCT_2005_07_31:201053002] +synonym: "Keratoderma, acquired" EXACT [ICD9CM_2006:701.1] +xref: ICD9CM:701.1 +xref: NCI:C34746 +xref: SNOMEDCT_US_2015_03_01:201053002 +xref: SNOMEDCT_US_2015_03_01:201064004 +xref: SNOMEDCT_US_2015_03_01:20637002 +xref: SNOMEDCT_US_2015_03_01:267805003 +xref: SNOMEDCT_US_2015_03_01:400166009 +xref: UMLS_CUI:C0022581 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:13074 +name: tinea unguium +alt_id: DOID:10462 +alt_id: DOID:11399 +alt_id: DOID:11761 +alt_id: DOID:12844 +alt_id: DOID:12845 +alt_id: DOID:12846 +alt_id: DOID:12847 +alt_id: DOID:12848 +alt_id: DOID:13119 +alt_id: DOID:9412 +alt_id: DOID:9690 +alt_id: DOID:9691 +def: "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved." [url:http\://en.wikipedia.org/wiki/Nail_disease, url:http\://en.wikipedia.org/wiki/Onychomycosis] +synonym: "cellulitis and abscess" RELATED [] +synonym: "cellulitis and abscess of buttock" EXACT [ICD9CM_2006:682.5] +synonym: "cellulitis and abscess of face" EXACT [] +synonym: "cellulitis and abscess of finger" EXACT [] +synonym: "cellulitis and abscess of finger and toe" EXACT [] +synonym: "cellulitis and abscess of gluteal region" EXACT [] +synonym: "cellulitis and abscess of trunk" EXACT [] +synonym: "cellulitis and abscess of upper arm and forearm" EXACT [] +synonym: "Dermatophytic onychia" EXACT [MTHICD9_2006:110.1] +synonym: "dermatophytic onychomycosis " EXACT [] +synonym: "Dermatophytosis of nail" EXACT [ICD9CM_2006:110.1] +synonym: "Onychomycosis due to dermatophyte" EXACT [SNOMEDCT_2005_07_31:402134005] +synonym: "Tinea unguium" RELATED [] +xref: ICD9CM:681.9 +xref: UMLS_CUI:C0007644 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:13076 +name: abdominal actinomycosis +def: "An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14616714] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:13077 +name: cutaneous actinomycosis +def: "An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules." [url:http\://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html, url:http\://en.wikipedia.org/wiki/Cutaneous_actinomycosis] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:13078 +name: eumycotic mycetoma +def: "A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules." [url:http\://emedicine.medscape.com/article/1090738-overview, url:http\://en.wikipedia.org/wiki/Maduromycosis, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html] +synonym: "eumycetoma" EXACT [] +synonym: "Madura foot" EXACT [ICD9CM_2006:039.4] +synonym: "maduromycosis" EXACT [] +synonym: "Maduromycosis, mycotic" EXACT [MTHICD9_2006:117.4] +synonym: "Mycotic mycetoma (disorder)" EXACT [SNOMEDCT_2005_07_31:29761005] +xref: ICD10CM:B47 +xref: ICD10CM:B47.9 +xref: MSH:D008271 +xref: NCI:C85505 +xref: SNOMEDCT_US_2015_03_01:187497002 +xref: SNOMEDCT_US_2015_03_01:410039003 +xref: UMLS_CUI:C0024449 +is_a: DOID:1563 ! dermatomycosis + +[Term] +id: DOID:1308 +name: AIDS related complex +def: "A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." [url:http\://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=10924] +subset: zoonotic_infectious_disease +synonym: "acquired immune deficiency syndrome (& [ARC])" EXACT [SNOMEDCT_2005_07_31:154368002] +synonym: "AIDS-like syndrome" EXACT [MTHICD9_2006:042] +is_obsolete: true + +[Term] +id: DOID:13080 +name: Jaccoud's syndrome +synonym: "Jaccoud syndrome" EXACT [] +xref: ICD10CM:M12.0 +xref: ICD10CM:M12.00 +xref: ICD9CM:714.4 +xref: SNOMEDCT_US_2015_03_01:123247007 +xref: SNOMEDCT_US_2015_03_01:84801008 +xref: UMLS_CUI:C0152084 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:13081 +name: hemangioma of subcutaneous tissue +synonym: "Angioma of the Subcutaneous tissue" EXACT [NCI2004_11_17:C8540] +synonym: "hemangioma of subcutaneous tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:93473009] +synonym: "Subcutaneous haemangioma" EXACT [SNOMEDCT_2005_07_31:189195009] +synonym: "Subcutaneous hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:254823000] +xref: NCI:C8540 +xref: SNOMEDCT_US_2015_03_01:189195009 +xref: SNOMEDCT_US_2015_03_01:254823000 +xref: SNOMEDCT_US_2015_03_01:93473009 +xref: UMLS_CUI:C0685200 +is_a: DOID:255 ! hemangioma +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:13087 +name: Lown-Ganong-Levine syndrome +def: "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles." [url:http\://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome] +synonym: "atrial tachyarrhythmia with short PR interval" EXACT [ORDO:844] +synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [MTHICD9_2006:426.81] +xref: ICD10CM:I45.6 +xref: ICD9CM:426.81 +xref: MSH:D008151 +xref: ORDO:844 +xref: SNOMEDCT_US_2015_03_01:55475008 +xref: UMLS_CUI:C0024054 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:13088 +name: periventricular leukomalacia +synonym: "Periventricular leucomalacia (disorder)" EXACT [SNOMEDCT_2005_07_31:230769007] +synonym: "Periventricular leukomalacia" EXACT [ICD9CM_2006:779.7] +xref: ICD10CM:P91.2 +xref: ICD9CM:779.7 +xref: MSH:D007969 +xref: NCI:C99013 +xref: SNOMEDCT_US_2015_03_01:230769007 +xref: UMLS_CUI:C0023529 +is_a: DOID:2034 ! encephalomalacia + +[Term] +id: DOID:13089 +name: intracranial arterial disease +xref: MSH:D020765 +xref: UMLS_CUI:C0752138 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:13094 +name: branch retinal artery occlusion +synonym: "Arterial retinal branch occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:50821009] +synonym: "Retinal Arterial Branch Occlusion" EXACT [NCI2004_11_17:C34436] +synonym: "Retinal arterial branch occlusion" EXACT [ICD9CM_2006:362.32] +xref: ICD10CM:H34.23 +xref: ICD9CM:362.32 +xref: MSH:D015356 +xref: NCI:C34436 +xref: SNOMEDCT_US_2015_03_01:50821009 +xref: UMLS_CUI:C0006123 +is_a: DOID:8483 ! retinal artery occlusion + +[Term] +id: DOID:13095 +name: vertebral artery insufficiency +synonym: "Vertebral artery syndrome" EXACT [ICD9CM_2006:435.1] +synonym: "Vertebral artery syndrome" EXACT [SNOMEDCT_2005_07_31:195198000] +synonym: "Vertebral artery syndrome" EXACT [NCI2004_11_17:C35123] +synonym: "Vertebral artery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:34781003] +xref: MSH:D014715 +xref: UMLS_CUI:C0042560 +is_a: DOID:224 ! transient cerebral ischemia + +[Term] +id: DOID:13096 +name: Sneddon syndrome +synonym: "Idiopathic livedo reticularis with systemic involvement (disorder)" EXACT [SNOMEDCT_2005_07_31:238776001] +xref: MSH:D018860 +xref: OMIM:182410 +xref: SNOMEDCT_US_2015_03_01:238776001 +xref: UMLS_CUI:C0282492 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:13097 +name: intracranial arteriosclerosis +xref: MSH:D002537 +xref: UMLS_CUI:C0007771 +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:13098 +name: central retinal artery occlusion +def: "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery." [url:http\://en.wikipedia.org/wiki/Central_retinal_artery_occlusion] +xref: ICD10CM:H34.1 +xref: ICD9CM:362.31 +xref: MSH:D015356 +xref: NCI:C34456 +xref: SNOMEDCT_US_2015_03_01:38742007 +xref: UMLS_CUI:C0007688 +is_a: DOID:8483 ! retinal artery occlusion + +[Term] +id: DOID:13099 +name: Moyamoya disease +def: "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots." [url:http\://en.wikipedia.org/wiki/Moyamoya_disease, url:http\://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "progressive intracranial arterial occlusion" EXACT [] +xref: EFOpat_id:2373 +xref: ICD10CM:I67.5 +xref: ICD9CM:437.5 +xref: MSH:D009072 +xref: NCI:C84895 +xref: OMIM:252350 +xref: OMIM:300845 +xref: OMIM:607151 +xref: OMIM:608796 +xref: OMIM:614042 +xref: OMIM:615750 +xref: ORDO:2573 +xref: ORDO:280679 +xref: ORDO:401945 +xref: SNOMEDCT_US_2015_03_01:69116000 +xref: SNOMEDCT_US_2015_03_01:89142007 +xref: UMLS_CUI:C0026654 +is_a: DOID:3527 ! cerebral arterial disease + +[Term] +id: DOID:13100 +name: intracranial vasospasm +xref: MSH:D020301 +xref: UMLS_CUI:C0751895 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:13109 +name: bladder leiomyoma +synonym: "leiomyoma of the urinary bladder" EXACT [NCI2004_11_17:C6178] +xref: NCI:C6178 +xref: UMLS_CUI:C1332560 +is_a: DOID:0050623 ! bladder benign neoplasm + +[Term] +id: DOID:1311 +name: HIV-associated nephropathy +def: "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." [url:http\://emedicine.medscape.com/article/246031-overview] +subset: zoonotic_infectious_disease +synonym: "AIDS nephropathy" EXACT [] +synonym: "AIDS-associated nephropathy" EXACT [] +synonym: "AIDS-Related nephropathy" EXACT [NCI2004_11_17:C26918] +is_obsolete: true + +[Term] +id: DOID:13110 +name: bladder squamous papilloma +xref: NCI:C39834 +xref: UMLS_CUI:C1511199 +is_a: DOID:0050623 ! bladder benign neoplasm + +[Term] +id: DOID:13112 +name: mechanical entropion +synonym: "Mechanical entropion (disorder)" EXACT [SNOMEDCT_2005_07_31:38683003] +xref: ICD9CM:374.02 +xref: SNOMEDCT_US_2015_03_01:38683003 +xref: UMLS_CUI:C0155189 +is_a: DOID:12397 ! entropion + +[Term] +id: DOID:13113 +name: cicatricial entropion +synonym: "Cicatricial entropion (disorder)" EXACT [SNOMEDCT_2005_07_31:67383002] +xref: ICD9CM:374.04 +xref: SNOMEDCT_US_2015_03_01:67383002 +xref: UMLS_CUI:C0155191 +is_a: DOID:12397 ! entropion + +[Term] +id: DOID:13117 +name: paronychia +alt_id: DOID:11398 +alt_id: DOID:9689 +def: "Paronychia is a nail infectious disease where there is an often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." [url:http\://en.wikipedia.org/wiki/Paronychia] +synonym: "fungal nail infection" EXACT [] +synonym: "Infected nailfold" EXACT [SNOMEDCT_2005_07_31:200643006] +synonym: "Onychia and paronychia of finger" EXACT [] +synonym: "Onychia and paronychia of toe" EXACT [] +synonym: "paronychia inflammation" RELATED [] +xref: ICD10CM:L03.0 +xref: MSH:D010304 +xref: NCI:C79702 +xref: SNOMEDCT_US_2015_03_01:156305000 +xref: SNOMEDCT_US_2015_03_01:200643006 +xref: SNOMEDCT_US_2015_03_01:267830000 +xref: SNOMEDCT_US_2015_03_01:71906005 +xref: UMLS_CUI:C0030578 +is_a: DOID:4123 ! nail disease + +[Term] +id: DOID:1312 +name: focal segmental glomerulosclerosis +alt_id: DOID:3945 +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "FGS (focal glomerular sclerosis)" EXACT [CSP2005:4003-0020] +synonym: "focal glomerular sclerosis" EXACT [] +synonym: "focal glomerulosclerosis" EXACT [] +synonym: "FSGS" EXACT [SNOMEDCT_2005_07_31:236403004] +xref: EFO:0004236 +xref: MSH:D005923 +xref: NCI:C37308 +xref: OMIM:603278 +xref: OMIM:603965 +xref: OMIM:607832 +xref: OMIM:612551 +xref: OMIM:613237 +xref: OMIM:614131 +xref: OMIM:616002 +xref: OMIM:616032 +xref: SNOMEDCT_US_2015_03_01:236403004 +xref: SNOMEDCT_US_2015_03_01:25821008 +xref: UMLS_CUI:C0017668 +is_a: DOID:0050851 ! glomerulosclerosis + +[Term] +id: DOID:13120 +name: protein-deficiency anemia +synonym: "Anemia due to protein deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:85746008] +synonym: "Protein-deficiency anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:191156009] +synonym: "Protein-deficiency anemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191159002] +xref: ICD10CM:D53.0 +xref: ICD9CM:281.4 +xref: SNOMEDCT_US_2015_03_01:191156009 +xref: SNOMEDCT_US_2015_03_01:191159002 +xref: SNOMEDCT_US_2015_03_01:85746008 +xref: UMLS_CUI:C0154290 +is_a: DOID:13121 ! deficiency anemia + +[Term] +id: DOID:13121 +name: deficiency anemia +synonym: "deficiency anemias (disorder)" EXACT [SNOMEDCT_2005_07_31:267513007] +synonym: "deficiency anemias NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191168000] +synonym: "Unspecified deficiency anemia" EXACT [ICD9CM_2006:281.9] +xref: ICD9CM:281.9 +xref: SNOMEDCT_US_2015_03_01:191125001 +xref: SNOMEDCT_US_2015_03_01:191168000 +xref: SNOMEDCT_US_2015_03_01:267513007 +xref: UMLS_CUI:C0041782 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:13127 +name: gonococcal spondylitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal spondylitis (disorder)" EXACT [SNOMEDCT_2005_07_31:53664003] +xref: ICD9CM:098.53 +xref: SNOMEDCT_US_2015_03_01:186929006 +xref: SNOMEDCT_US_2015_03_01:53664003 +xref: UMLS_CUI:C0153219 +is_a: DOID:6590 ! spondylitis + +[Term] +id: DOID:13129 +name: severe pre-eclampsia +alt_id: DOID:13130 +alt_id: DOID:13131 +alt_id: DOID:13132 +def: "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption." [url:http\://emedicine.medscape.com/article/1476919-overview] +synonym: "antepartum severe pre-eclampsia" EXACT [] +synonym: "postpartum severe pre-eclampsia" EXACT [] +synonym: "Severe pre-eclampsia, with delivery" EXACT [] +synonym: "severe preeclampsia" EXACT [] +xref: ICD9CM:642.50 +xref: UMLS_CUI:C0156669 +is_a: DOID:10591 ! pre-eclampsia + +[Term] +id: DOID:1313 +name: HIV wasting syndrome +def: "An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [url:http\://en.wikipedia.org/wiki/AIDS_wasting_syndrome, url:http\://www.aidsinfonet.org/fact_sheets/view/519] +subset: zoonotic_infectious_disease +synonym: "AIDS wasting syndrome" RELATED [CSP2005:0944-7730] +synonym: "Human immunodeficiency virus infection wasting syndrome" EXACT [SNOMEDCT_2005_07_31:186727001] +is_obsolete: true + +[Term] +id: DOID:13133 +name: HELLP syndrome +def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." [PMID:24400024, PMID:25879992] +synonym: "HELLP syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:95605009] +synonym: "syndrome of haemolysis, elevated liver enzymes and low platelet" EXACT [SNOMEDCT_2005_07_31:199010001] +xref: ICD10CM:O14.2 +xref: MSH:D017359 +xref: NCI:C84750 +xref: SNOMEDCT_US_2015_03_01:199010001 +xref: SNOMEDCT_US_2015_03_01:95605009 +xref: UMLS_CUI:C0162739 +is_a: DOID:13129 ! severe pre-eclampsia + +[Term] +id: DOID:13134 +name: hordeolum externum +def: "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll." [url:http\://en.wikipedia.org/wiki/Stye] +synonym: "external stye" EXACT [] +xref: ICD10CM:H00.01 +xref: ICD10CM:H00.03 +xref: ICD9CM:373.11 +xref: SNOMEDCT_US_2015_03_01:1489008 +xref: SNOMEDCT_US_2015_03_01:193912000 +xref: SNOMEDCT_US_2015_03_01:61523007 +xref: UMLS_CUI:C0019919 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:13135 +name: exophthalmic ophthalmoplegia +synonym: "Exophthalmic ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:69763009] +xref: ICD9CM:376.22 +xref: SNOMEDCT_US_2015_03_01:69763009 +xref: UMLS_CUI:C0152135 +is_a: DOID:12359 ! endocrine exophthalmos +is_a: DOID:539 ! ophthalmoplegia + +[Term] +id: DOID:13137 +name: Werdnig-Hoffmann disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "hereditary motor neuropathy proximal type I" EXACT [] +synonym: "HMN (Hereditary motor Neuropathy) Proximal type I" EXACT [] +synonym: "infantile muscular atrophy" EXACT [CSP2005:2057-3620] +synonym: "progressive muscular atrophy of infancy" EXACT [MTHICD9_2006:335.0] +synonym: "Werdnig-Hoffman disease" RELATED [SNOMEDCT_2005_07_31:155016008] +xref: ICD10CM:G12.0 +xref: ICD9CM:335.0 +xref: MSH:D014897 +xref: NCI:C98670 +xref: OMIM:253300 +xref: SNOMEDCT_US_2015_03_01:155016008 +xref: SNOMEDCT_US_2015_03_01:267694009 +xref: SNOMEDCT_US_2015_03_01:64383006 +xref: UMLS_CUI:C0043116 +is_a: DOID:0060160 ! survival motor neuron spinal muscular atrophy + +[Term] +id: DOID:13138 +name: acute proliferative glomerulonephritis +synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [ICD9CM_2006:580.0] +synonym: "acute proliferative glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:197579006] +xref: ICD9CM:580.0 +xref: SNOMEDCT_US_2015_03_01:197579006 +xref: UMLS_CUI:C0341692 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:13139 +name: crescentic glomerulonephritis +synonym: "Crescentic glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:236398000] +synonym: "Idiopathic crescentic glomerulonephritis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:45406000] +xref: NCI:C35444 +xref: SNOMEDCT_US_2015_03_01:236398000 +xref: SNOMEDCT_US_2015_03_01:45406000 +xref: UMLS_CUI:C0403416 +is_a: DOID:13138 ! acute proliferative glomerulonephritis + +[Term] +id: DOID:1314 +name: wasting syndrome +synonym: "Wasting disease" EXACT [SNOMEDCT_2005_07_31:271878009] +synonym: "Wasting disease" EXACT [MTHICD9_2006:799.4] +synonym: "Wasting disease (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207559001] +synonym: "Wasting disease (disorder)" EXACT [SNOMEDCT_2005_07_31:288517002] +synonym: "Wasting disease, NOS" EXACT [SNOMEDCT_2005_07_31:28928000] +is_obsolete: true + +[Term] +id: DOID:13140 +name: suppurative uveitis +xref: MSH:D015829 +xref: UMLS_CUI:C0042168 +is_a: DOID:13141 ! uveitis + +[Term] +id: DOID:13141 +name: uveitis +xref: ICD10CM:H20.9 +xref: MSH:D014605 +xref: NCI:C26909 +xref: SNOMEDCT_US_2015_03_01:128473001 +xref: SNOMEDCT_US_2015_03_01:155116005 +xref: SNOMEDCT_US_2015_03_01:193499001 +xref: SNOMEDCT_US_2015_03_01:267719008 +xref: SNOMEDCT_US_2015_03_01:75614007 +xref: UMLS_CUI:C0042164 +is_a: DOID:3480 ! uveal disease + +[Term] +id: DOID:13143 +name: benign secondary hypertension +xref: ICD9CM:405.1 +xref: NCI:C3658 +xref: SNOMEDCT_US_2015_03_01:194785008 +xref: SNOMEDCT_US_2015_03_01:194787000 +xref: SNOMEDCT_US_2015_03_01:44111003 +xref: UMLS_CUI:C0155620 +is_a: DOID:11130 ! secondary hypertension + +[Term] +id: DOID:13145 +name: benign renovascular hypertension +xref: ICD9CM:405.11 +xref: UMLS_CUI:C0155621 +is_a: DOID:13143 ! benign secondary hypertension + +[Term] +id: DOID:13146 +name: esophageal candidiasis +def: "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain." [url:http\://en.wikipedia.org/wiki/Esophageal_candidiasis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +synonym: "Candida Esophagitis" EXACT [NCI2004_11_17:C27027] +synonym: "Candidal esophagitis" EXACT [ICD9CM_2006:112.84] +synonym: "Candidiasis of the esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:20639004] +synonym: "esophageal moniliasis" EXACT [SNOMEDCT_2005_07_31:187023002] +synonym: "esophageal thrush" EXACT [] +xref: ICD10CM:B37.81 +xref: ICD9CM:112.84 +xref: NCI:C27027 +xref: SNOMEDCT_US_2015_03_01:187023002 +xref: SNOMEDCT_US_2015_03_01:20639004 +xref: UMLS_CUI:C0239295 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:13147 +name: fungal esophagitis +synonym: "Fungal Esophagitis" EXACT [NCI2004_11_17:C27107] +synonym: "Fungal esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235602008] +xref: NCI:C27107 +xref: SNOMEDCT_US_2015_03_01:235602008 +xref: UMLS_CUI:C0341109 +is_a: DOID:11963 ! esophagitis + +[Term] +id: DOID:13148 +name: acute cystitis +def: "A cystitis characterized by a sudden onset or severe symptoms." [url:http\://en.wikipedia.org/wiki/Urinary_tract_infection] +synonym: "urinary tract infection" EXACT [] +xref: ICD10CM:N30.0 +xref: ICD9CM:595.0 +xref: NCI:C26934 +xref: SNOMEDCT_US_2015_03_01:155883005 +xref: SNOMEDCT_US_2015_03_01:197833009 +xref: SNOMEDCT_US_2015_03_01:266628008 +xref: SNOMEDCT_US_2015_03_01:68226007 +xref: UMLS_CUI:C0149523 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:13149 +name: tuberculous lung fibrosis +def: "A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred)." [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculous Fibrosis of lung" EXACT [NCI2004_11_17:C35088] +synonym: "Tuberculous fibrosis of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:90117007] +synonym: "Tuberculous fibrosis of lung, unspecified examination" EXACT [ICD9CM_2006:011.40] +is_obsolete: true + +[Term] +id: DOID:13157 +name: sensory disorder of eyelid +synonym: "Sensory disorder of eyelid" EXACT [ICD9CM_2006:374.44] +synonym: "Sensory disorder of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:193950006] +synonym: "Sensory disorder of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:38872009] +is_obsolete: true + +[Term] +id: DOID:13159 +name: scrotum squamous cell carcinoma +synonym: "Scrotal squamous cell carcinoma" EXACT [NCI2004_11_17:C4643] +synonym: "squamous cell carcinoma of scrotum" RELATED [] +synonym: "squamous cell carcinoma of scrotum (disorder)" EXACT [SNOMEDCT_2005_07_31:276860003] +xref: NCI:C4643 +xref: SNOMEDCT_US_2015_03_01:276860003 +xref: UMLS_CUI:C0349551 +is_a: DOID:3445 ! scrotal carcinoma + +[Term] +id: DOID:13160 +name: scrotum melanoma +synonym: "melanoma of scrotum" EXACT [NCI2004_11_17:C7361] +xref: NCI:C7361 +xref: UMLS_CUI:C1331544 +is_a: DOID:518 ! scrotum neoplasm + +[Term] +id: DOID:13164 +name: Bordetella pertussis pneumonia +def: "A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing." [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh] +subset: gram-negative_bacterial_infectious_disease +synonym: "Pertussis pneumonia" EXACT [SNOMEDCT_2005_07_31:155556004] +synonym: "Pneumonia in whooping cough" EXACT [ICD9CM_2006:484.3] +is_obsolete: true + +[Term] +id: DOID:13165 +name: Aspergillus pneumonia +def: "An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever." [url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15735246] +synonym: "Pneumonia in aspergillosis" EXACT [ICD9CM_2006:484.6] +is_obsolete: true + +[Term] +id: DOID:13166 +name: allergic bronchopulmonary aspergillosis +def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever." [ls:IEDB, url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000070.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "pulmonary aspergillus disease" EXACT [SNOMEDCT_2005_07_31:187086008] +xref: ICD10CM:B44.81 +xref: ICD9CM:518.6 +xref: MSH:D001229 +xref: NCI:C84547 +xref: OMIM:103920 +xref: SNOMEDCT_US_2015_03_01:37981002 +xref: UMLS_CUI:C0004031 +is_a: DOID:13564 ! aspergillosis + +[Term] +id: DOID:13168 +name: prepuce cancer +synonym: "malignant neoplasm of foreskin" EXACT [SNOMEDCT_2005_07_31:93805009] +synonym: "malignant neoplasm of foreskin" EXACT [MTHICD9_2006:187.1] +synonym: "malignant tumor of foreskin (disorder)" EXACT [SNOMEDCT_2005_07_31:363450006] +xref: ICD10CM:C60.0 +xref: ICD9CM:187.1 +xref: SNOMEDCT_US_2015_03_01:363450006 +xref: SNOMEDCT_US_2015_03_01:93805009 +xref: UMLS_CUI:C0153598 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:13169 +name: spermatic cord cancer +synonym: "malignant tumor of spermatic cord (disorder)" EXACT [SNOMEDCT_2005_07_31:363453008] +synonym: "malignant tumor of the Spermatic Cord" EXACT [NCI2004_11_17:C3559] +synonym: "Spermatic cord Ca" EXACT [SNOMEDCT_2005_07_31:269606007] +synonym: "Spermatic cord Ca" EXACT [SNOMEDCT_2005_07_31:154537000] +synonym: "Spermatic cord Ca" EXACT [SNOMEDCT_2005_07_31:94065000] +xref: ICD10CM:C63.1 +xref: ICD9CM:187.6 +xref: NCI:C3559 +xref: SNOMEDCT_US_2015_03_01:154537000 +xref: SNOMEDCT_US_2015_03_01:269606007 +xref: SNOMEDCT_US_2015_03_01:363453008 +xref: SNOMEDCT_US_2015_03_01:94065000 +xref: UMLS_CUI:C0153603 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:13174 +name: dissociated nystagmus +synonym: "Dissociated nystagmus" EXACT [ICD9CM_2006:379.55] +synonym: "Dissociated nystagmus (disorder)" EXACT [SNOMEDCT_2005_07_31:9520006] +xref: ICD10CM:H55.04 +xref: ICD9CM:379.55 +xref: MSH:D009759 +xref: SNOMEDCT_US_2015_03_01:9520006 +xref: UMLS_CUI:C0155380 +is_a: DOID:9650 ! pathologic nystagmus + +[Term] +id: DOID:13175 +name: female genital tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of female genital organs" RELATED [] +is_obsolete: true + +[Term] +id: DOID:13177 +name: chronic erythremia in remission +is_obsolete: true + +[Term] +id: DOID:13185 +name: esophageal diverticulosis +xref: MSH:D045723 +xref: UMLS_CUI:C0917875 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:13186 +name: megaesophagus +synonym: "Megaesophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:70667005] +xref: MSH:D004931 +xref: NCI:C34811 +xref: SNOMEDCT_US_2015_03_01:70667005 +xref: UMLS_CUI:C0025164 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:13189 +name: gout +alt_id: DOID:14144 +def: "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." [url:http\://en.wikipedia.org/wiki/Gout, url:http\://www.mayoclinic.com/health/gout/DS00090, url:http\://www.medicinenet.com/gout/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000422.htm] +synonym: "Articular gout (disorder)" EXACT [SNOMEDCT_2005_07_31:48440001] +synonym: "gouty arthritis" EXACT [SNOMEDCT_2005_07_31:154745008, SNOMEDCT_2005_07_31:190827003] +synonym: "Gouty arthropathy" EXACT [ICD9CM_2006:274.0, SNOMEDCT_2005_07_31:154746009] +xref: EFO:0004274 +xref: ICD10CM:M10 +xref: ICD10CM:M10.9 +xref: ICD9CM:274 +xref: ICD9CM:274.0 +xref: ICD9CM:274.00 +xref: ICD9CM:274.9 +xref: MSH:D006073 +xref: MSH:D015210 +xref: NCI:C34650 +xref: SNOMEDCT_US_2015_03_01:147966005 +xref: SNOMEDCT_US_2015_03_01:154745008 +xref: SNOMEDCT_US_2015_03_01:154746009 +xref: SNOMEDCT_US_2015_03_01:170733007 +xref: SNOMEDCT_US_2015_03_01:190827003 +xref: SNOMEDCT_US_2015_03_01:190828008 +xref: SNOMEDCT_US_2015_03_01:190844004 +xref: SNOMEDCT_US_2015_03_01:201661008 +xref: SNOMEDCT_US_2015_03_01:201662001 +xref: SNOMEDCT_US_2015_03_01:201672003 +xref: SNOMEDCT_US_2015_03_01:48440001 +xref: SNOMEDCT_US_2015_03_01:90560007 +xref: UMLS_CUI:C0003868 +xref: UMLS_CUI:C0018099 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:1319 +name: brain cancer +alt_id: DOID:2125 +alt_id: DOID:2126 +alt_id: DOID:3543 +alt_id: DOID:6649 +alt_id: DOID:911 +def: "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." [url:http\://www.cancer.gov/dictionary?CdrID=387264] +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +synonym: "adult brain tumor" EXACT [] +synonym: "adult malignant brain neoplasm" EXACT [] +synonym: "brain neoplasm" EXACT [CSP2005:2006-2736] +synonym: "brain neoplasm, adult" EXACT [NCI2004_11_17:C7710] +synonym: "BT - Brain tumour" EXACT [SNOMEDCT_2005_07_31:254935002] +synonym: "malignant brain tumour" EXACT [SNOMEDCT_2005_07_31:363356001] +synonym: "malignant primary brain neoplasm" EXACT [NCI2004_11_17:C4954] +synonym: "malignant primary brain tumor" EXACT [] +synonym: "malignant tumor of adult brain" EXACT [NCI2004_11_17:C5115] +synonym: "malignant tumor of Brain" EXACT [NCI2004_11_17:C3568] +synonym: "neoplasm of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:126952004] +synonym: "neoplasm of unspecified nature of brain" EXACT [ICD9CM_2006:239.6] +synonym: "neoplasm of unspecified nature of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:189537005] +synonym: "primary brain neoplasm" EXACT [NCI2004_11_17:C4952] +synonym: "primary brain tumor" EXACT [] +synonym: "primary malignant neoplasm of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:93727008] +synonym: "tumor of the Brain" EXACT [NCI2004_11_17:C2907] +xref: CSP:2006-2736 +xref: ICD10CM:C71 +xref: ICD10CM:C71.9 +xref: ICD9CM:191 +xref: ICD9CM:191.9 +xref: ICD9CM:239.6 +xref: MSH:D001932 +xref: NCI:C2907 +xref: NCI:C3568 +xref: NCI:C4952 +xref: NCI:C4954 +xref: NCI:C5115 +xref: NCI:C7710 +xref: SNOMEDCT_US_2015_03_01:126952004 +xref: SNOMEDCT_US_2015_03_01:154550004 +xref: SNOMEDCT_US_2015_03_01:188279009 +xref: SNOMEDCT_US_2015_03_01:188305001 +xref: SNOMEDCT_US_2015_03_01:189537005 +xref: SNOMEDCT_US_2015_03_01:254935002 +xref: SNOMEDCT_US_2015_03_01:269610005 +xref: SNOMEDCT_US_2015_03_01:275464006 +xref: SNOMEDCT_US_2015_03_01:363356001 +xref: SNOMEDCT_US_2015_03_01:428061005 +xref: SNOMEDCT_US_2015_03_01:93727008 +xref: UMLS_CUI:C0006118 +xref: UMLS_CUI:C0153633 +xref: UMLS_CUI:C0220624 +xref: UMLS_CUI:C0750974 +xref: UMLS_CUI:C0750979 +xref: UMLS_CUI:C1334557 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:13192 +name: pulmonary congestion and hypostasis +synonym: "pulmonary congestion and hypostasis (disorder)" EXACT [SNOMEDCT_2005_07_31:196115007] +synonym: "pulmonary congestion and hypostasis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196120007] +is_obsolete: true + +[Term] +id: DOID:13194 +name: non-toxic nodular goiter +synonym: "Non-toxic nodular Goiter" EXACT [NCI2004_11_17:C34647] +synonym: "Non-toxic nodular goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:190236006] +synonym: "Non-toxic nodular goiter NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267371002] +synonym: "Non-toxic nodular goitre" EXACT [SNOMEDCT_2005_07_31:60968001] +synonym: "Nontoxic nodular goiter" EXACT [ICD9CM_2006:241] +synonym: "Nontoxic nodular goiter NOS" EXACT [MTHICD9_2006:241.9] +synonym: "Nontoxic nodular goitre NOS" EXACT [SNOMEDCT_2005_07_31:190238007] +synonym: "Unspecified nontoxic nodular goiter" EXACT [ICD9CM_2006:241.9] +is_obsolete: true + +[Term] +id: DOID:13195 +name: nontoxic goiter +synonym: "Goiter, non-toxic NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:286908001] +synonym: "Goitre, non-toxic NOS" EXACT [SNOMEDCT_2005_07_31:154654000] +synonym: "Nodule-thyroid, non tox" EXACT [SNOMEDCT_2005_07_31:267463000] +synonym: "Nodule-thyroid, non tox" EXACT [SNOMEDCT_2005_07_31:154650009] +synonym: "Non-toxic goitre" EXACT [SNOMEDCT_2005_07_31:60968001] +synonym: "Non-toxic simple goitre" EXACT [SNOMEDCT_2005_07_31:267369002] +synonym: "Nontoxic Goiter" EXACT [NCI2004_11_17:C35271] +xref: ICD10CM:E04.0 +xref: ICD10CM:E04.9 +xref: NCI:C35271 +xref: SNOMEDCT_US_2015_03_01:154650009 +xref: SNOMEDCT_US_2015_03_01:154654000 +xref: SNOMEDCT_US_2015_03_01:267369002 +xref: SNOMEDCT_US_2015_03_01:267463000 +xref: SNOMEDCT_US_2015_03_01:286908001 +xref: SNOMEDCT_US_2015_03_01:60968001 +xref: UMLS_CUI:C0221777 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:13196 +name: lingual goiter +synonym: "Lingual goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:75667007] +xref: MSH:D047268 +xref: SNOMEDCT_US_2015_03_01:75667007 +xref: UMLS_CUI:C0271760 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:13197 +name: nodular goiter +synonym: "Goiter, nodular" EXACT [MTH:733] +synonym: "Goiter, nodular" EXACT [MTH:494] +synonym: "nodular goiter NOS" EXACT [MTHICD9_2006:241.9] +synonym: "nodular goitre" EXACT [SNOMEDCT_2005_07_31:190236006] +xref: MSH:D006044 +xref: SNOMEDCT_US_2015_03_01:190236006 +xref: SNOMEDCT_US_2015_03_01:237570007 +xref: SNOMEDCT_US_2015_03_01:419153005 +xref: UMLS_CUI:C0018023 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:13198 +name: endemic goiter +synonym: "Endemic goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:56805008] +synonym: "Goiter, specified as simple" EXACT [ICD9CM_2006:240.0] +synonym: "Iodine-deficiency-related (endemic) goiter, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:191043000] +synonym: "Iodine-deficiency-related (endemic) goitre, unspecified" EXACT [SNOMEDCT_2005_07_31:190319000] +synonym: "Iodine-deficiency-related endemic goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:271949009] +synonym: "Iodine-deficiency-related endemic goitre" EXACT [SNOMEDCT_2005_07_31:190316007] +synonym: "simple Goiter" EXACT [NCI2004_11_17:C35023] +synonym: "simple goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:267369002] +synonym: "simple goitre" EXACT [SNOMEDCT_2005_07_31:190234009] +xref: ICD10CM:E01.0 +xref: ICD10CM:E01.2 +xref: ICD9CM:240.0 +xref: MSH:D006043 +xref: NCI:C35023 +xref: SNOMEDCT_US_2015_03_01:190234009 +xref: SNOMEDCT_US_2015_03_01:190316007 +xref: SNOMEDCT_US_2015_03_01:190319000 +xref: SNOMEDCT_US_2015_03_01:191043000 +xref: SNOMEDCT_US_2015_03_01:267369002 +xref: SNOMEDCT_US_2015_03_01:271949009 +xref: SNOMEDCT_US_2015_03_01:56805008 +xref: UMLS_CUI:C0018022 +is_a: DOID:12176 ! goiter +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:13200 +name: substernal goiter +synonym: "Retrosternal thyroid goiter" EXACT [SNOMEDCT_2005_07_31:190234009] +synonym: "Substernal goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:66392007] +xref: MSH:D006045 +xref: SNOMEDCT_US_2015_03_01:190234009 +xref: SNOMEDCT_US_2015_03_01:66392007 +xref: UMLS_CUI:C0018024 +is_a: DOID:12176 ! goiter + +[Term] +id: DOID:13202 +name: secondary syphilitic iridocyclitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilitic iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:30080002] +synonym: "Syphilitic iridocyclitis (secondary)" EXACT [ICD9CM_2006:091.52] +is_obsolete: true + +[Term] +id: DOID:13206 +name: nodular prostate +alt_id: DOID:13220 +alt_id: DOID:13225 +xref: ICD10CM:N40 +xref: ICD9CM:600.1 +xref: UMLS_CUI:C0748012 +is_a: DOID:11132 ! prostatic hypertrophy + +[Term] +id: DOID:13207 +name: proliferative diabetic retinopathy +synonym: "PDR" EXACT [SNOMEDCT_2005_07_31:59276001] +xref: ICD9CM:362.02 +xref: NCI:C84457 +xref: SNOMEDCT_US_2015_03_01:154679002 +xref: SNOMEDCT_US_2015_03_01:59276001 +xref: UMLS_CUI:C0154830 +is_a: DOID:8947 ! diabetic retinopathy + +[Term] +id: DOID:13208 +name: background diabetic retinopathy +synonym: "Background Diabetic Retinopathy" EXACT [NCI2004_11_17:C34408] +synonym: "Background diabetic retinopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:31411005] +synonym: "Non proliferative diabetic retinopathy" EXACT [SNOMEDCT_2005_07_31:390718008] +synonym: "Non proliferative diabetic retinopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:390834004] +synonym: "Non-Proliferative Diabetic Retinopathy" EXACT [NCI2004_11_17:C35668] +xref: ICD9CM:362.01 +xref: ICD9CM:362.03 +xref: NCI:C34408 +xref: NCI:C35668 +xref: SNOMEDCT_US_2015_03_01:154680004 +xref: SNOMEDCT_US_2015_03_01:31411005 +xref: SNOMEDCT_US_2015_03_01:390718008 +xref: SNOMEDCT_US_2015_03_01:390834004 +xref: UMLS_CUI:C0004606 +is_a: DOID:8947 ! diabetic retinopathy + +[Term] +id: DOID:13209 +name: right bundle branch block +synonym: "Right bundle branch block with left posterior fascicular block (disorder)" EXACT [SNOMEDCT_2005_07_31:46319007] +xref: ICD9CM:426.51 +xref: SNOMEDCT_US_2015_03_01:46319007 +xref: UMLS_CUI:C0155704 +is_a: DOID:10273 ! heart conduction disease + +[Term] +id: DOID:13211 +name: secondary malignant neoplasm of brain and spinal cord +synonym: "secondary malignant neoplasm of brain and spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:188462001] +synonym: "secondary malignant neoplasm of brain or spinal cord NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188465004] +is_obsolete: true + +[Term] +id: DOID:13212 +name: metastasis to skin +synonym: "metastasis to skin" EXACT [SNOMEDCT_2005_07_31:154570005] +synonym: "metastasis to skin" EXACT [SNOMEDCT_2005_07_31:188453003] +synonym: "metastatic skin carcinoma" EXACT [NCI2004_11_17:C5628] +synonym: "metastatic tumor to the skin" EXACT [NCI2004_11_17:C5629] +synonym: "secondary malignant neoplasm of skin" EXACT [ICD9CM_2006:198.2] +synonym: "secondary malignant neoplasm of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:94579000] +synonym: "secondary malignant neoplasm of skin NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188461008] +is_obsolete: true + +[Term] +id: DOID:13213 +name: metastatic cancer to the breast +synonym: "metastatic tumor to the breast" EXACT [NCI2004_11_17:C7511] +synonym: "secondary malignant neoplasm of breast" EXACT [ICD9CM_2006:198.81] +synonym: "secondary malignant neoplasm of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:94297009] +is_obsolete: true + +[Term] +id: DOID:13214 +name: hole retinal cyst +synonym: "degeneration of macula due to cyst, hole or pseudohole (disorder)" EXACT [SNOMEDCT_2005_07_31:267612009] +synonym: "Macular cyst or hole" EXACT [SNOMEDCT_2005_07_31:193388002] +synonym: "Macular cyst, hole, or pseudohole of retina" EXACT [ICD9CM_2006:362.54] +synonym: "Macular pseudohole retinal cyst" EXACT [SNOMEDCT_2005_07_31:1079004] +xref: ICD10CM:H35.34 +xref: ICD9CM:362.54 +xref: SNOMEDCT_US_2015_03_01:1079004 +xref: SNOMEDCT_US_2015_03_01:193388002 +xref: SNOMEDCT_US_2015_03_01:267612009 +xref: UMLS_CUI:C1261331 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:13219 +name: transsexuality with heterosexual history +synonym: "Trans-sexualism with heterosexual history" EXACT [ICD9CM_2006:302.53] +synonym: "Transsexuality with heterosexual history (disorder)" EXACT [SNOMEDCT_2005_07_31:191785009] +is_obsolete: true + +[Term] +id: DOID:13222 +name: submucous uterine fibroid +synonym: "Submucous leiomyoma of uterus" EXACT [ICD9CM_2006:218.0] +synonym: "Submucous leiomyoma of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:95279007] +xref: ICD10CM:D25.0 +xref: ICD9CM:218.0 +xref: SNOMEDCT_US_2015_03_01:95279007 +xref: UMLS_CUI:C0153993 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13223 +name: uterine fibroid +def: "A uterine benign neoplasm derived from the smooth muscle layer of the uterus." [url:http\://en.wikipedia.org/wiki/Uterine_fibroid, url:http\://www.nlm.nih.gov/medlineplus/uterinefibroids.html] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "leiomyoma of Corpus Uteri" EXACT [NCI2004_11_17:C3434] +synonym: "Plexiform leiomyoma" EXACT [SNOMEDCT_2005_07_31:44598004] +synonym: "uterine leiomyoma" EXACT [ICD9CM_2006:218] +synonym: "UTERUS FIBROMA" EXACT [MTH:769] +xref: EFO:0000731 +xref: HP:0000131 +xref: ICD10CM:D25 +xref: ICD10CM:D25.9 +xref: ICD9CM:218 +xref: ICD9CM:218.9 +xref: MSH:D007889 +xref: NCI:C3434 +xref: OMIM:150699 +xref: SNOMEDCT_US_2015_03_01:154616000 +xref: SNOMEDCT_US_2015_03_01:189106003 +xref: SNOMEDCT_US_2015_03_01:44598004 +xref: SNOMEDCT_US_2015_03_01:95315005 +xref: UMLS_CUI:C0042133 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:13224 +name: introverted personality +is_obsolete: true + +[Term] +id: DOID:13226 +name: oculoglandular tularemia +def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear." [url:http\://www.cdc.gov/tularemia/signssymptoms/] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Oculoglandular tularemia (disorder)" EXACT [SNOMEDCT_2005_07_31:73363000] +xref: ICD10CM:A21.1 +xref: ICD9CM:021.3 +xref: SNOMEDCT_US_2015_03_01:73363000 +xref: UMLS_CUI:C0152944 +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:13227 +name: retinal dystrophies primarily involving Bruch's membrane +synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [] +xref: ICD9CM:362.77 +xref: UMLS_CUI:C0154866 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:1323 +name: malignant neoplasm of trachea, bronchus and lung +synonym: "malignant neoplasm of trachea, bronchus and lung (disorder)" EXACT [SNOMEDCT_2005_07_31:187852000] +synonym: "malignant neoplasm of trachea, bronchus, and lung" EXACT [ICD9CM_2006:162] +is_obsolete: true + +[Term] +id: DOID:13232 +name: Diffuse cholesteatosis of middle ear and mastoid +is_obsolete: true + +[Term] +id: DOID:13238 +name: Haverhill fever +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain." [url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002324/] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Streptobacillary fever" EXACT [ICD9CM_2006:026.1] +synonym: "Streptobacillary rat-bite fever" RELATED [] +synonym: "Streptobacillosis" RELATED [] +xref: ICD10CM:A25.1 +xref: ICD9CM:026.1 +xref: SNOMEDCT_US_2015_03_01:52138004 +xref: UMLS_CUI:C0152063 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13239 +name: internal pathological resorption +xref: ICD9CM:521.41 +xref: UMLS_CUI:C1456167 +is_a: DOID:13240 ! tooth resorption + +[Term] +id: DOID:1324 +name: lung cancer +alt_id: DOID:13075 +alt_id: DOID:1322 +alt_id: DOID:9881 +def: "A respiratory system cancer that is located_in the lung." [url:http\://en.wikipedia.org/wiki/Lung_cancer] +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "lung neoplasm" RELATED [] +xref: ICD10CM:C34.1 +xref: ICD10CM:C34.2 +xref: ICD10CM:C34.3 +xref: ICD9CM:162.3 +xref: ICD9CM:162.4 +xref: ICD9CM:162.5 +xref: ICD9CM:162.8 +xref: OMIM:211980 +xref: OMIM:608935 +xref: OMIM:612571 +xref: OMIM:612593 +xref: OMIM:614210 +xref: SNOMEDCT_US_2015_03_01:187860004 +xref: SNOMEDCT_US_2015_03_01:187863002 +xref: SNOMEDCT_US_2015_03_01:187864008 +xref: SNOMEDCT_US_2015_03_01:187867001 +xref: SNOMEDCT_US_2015_03_01:187868006 +xref: SNOMEDCT_US_2015_03_01:187871003 +xref: SNOMEDCT_US_2015_03_01:187874006 +xref: SNOMEDCT_US_2015_03_01:269464000 +xref: UMLS_CUI:C0024624 +xref: UMLS_CUI:C0153491 +xref: UMLS_CUI:C0153492 +xref: UMLS_CUI:C0153493 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:13240 +name: tooth resorption +xref: ICD10CM:K03.3 +xref: ICD9CM:521.4 +xref: MSH:D014091 +xref: SNOMEDCT_US_2015_03_01:196316003 +xref: SNOMEDCT_US_2015_03_01:70931000 +xref: UMLS_CUI:C0040451 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:13241 +name: Behcet's disease +def: "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." [url:http\://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/behcetssyndrome.html] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Adamantiades-Behcet disease" EXACT [SNOMEDCT_2005_07_31:310701003] +synonym: "Behcet syndrome" EXACT [] +synonym: "Behcet's syndrome" RELATED [ICD9CM_2006:136.1] +synonym: "Behet's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:41225007] +synonym: "triple symptom complex" EXACT [CSP2005:0944-7825] +xref: EFO:0003780 +xref: ICD10CM:M35.2 +xref: ICD9CM:136.1 +xref: MSH:D001528 +xref: NCI:C34416 +xref: OMIM:109650 +xref: SNOMEDCT_US_2015_03_01:154424000 +xref: SNOMEDCT_US_2015_03_01:310701003 +xref: SNOMEDCT_US_2015_03_01:41225007 +xref: UMLS_CUI:C0004943 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:13248 +name: mucocele of appendix +synonym: "Appendicele Mucocele" EXACT [NCI2004_11_17:C3241] +synonym: "Mucocele of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:53773002] +xref: NCI:C3241 +xref: SNOMEDCT_US_2015_03_01:53773002 +xref: UMLS_CUI:C0026684 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:13249 +name: pneumatosis cystoides intestinalis +synonym: "Pneumatosis cystoides intestinalis (disorder)" EXACT [SNOMEDCT_2005_07_31:17465007] +xref: MSH:D011006 +xref: SNOMEDCT_US_2015_03_01:117631000119103 +xref: SNOMEDCT_US_2015_03_01:17465007 +xref: UMLS_CUI:C0032266 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:1325 +name: bronchus cancer +def: "A respiratory system cancer that is located_in the bronchus." [url:http\://en.wikipedia.org/wiki/Bronchus] +synonym: "malignant neoplasm of bronchus and lung, unspecified" EXACT [ICD9CM_2006:162.9] +synonym: "malignant neoplasm of bronchus or lung NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:269465004] +synonym: "malignant neoplasm of bronchus or lung, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190092003] +xref: ICD10CM:C34 +xref: ICD10CM:C34.9 +xref: ICD9CM:162.9 +xref: SNOMEDCT_US_2015_03_01:187875007 +xref: SNOMEDCT_US_2015_03_01:190092003 +xref: SNOMEDCT_US_2015_03_01:269465004 +xref: UMLS_CUI:C0348343 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:13250 +name: diarrhea +alt_id: DOID:0050006 +def: "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] +subset: GOLD +synonym: "diarrhea of presumed infectious origin" RELATED [] +synonym: "diarrhoea" RELATED [] +xref: ICD9CM:009.2 +xref: MSH:D004403 +xref: SNOMEDCT_US_2015_03_01:111939009 +xref: SNOMEDCT_US_2015_03_01:154268000 +xref: SNOMEDCT_US_2015_03_01:154279005 +xref: SNOMEDCT_US_2015_03_01:186165000 +xref: SNOMEDCT_US_2015_03_01:186167008 +xref: SNOMEDCT_US_2015_03_01:19213003 +xref: SNOMEDCT_US_2015_03_01:236076004 +xref: SNOMEDCT_US_2015_03_01:266173000 +xref: SNOMEDCT_US_2015_03_01:266180003 +xref: UMLS_CUI:C0013369 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:13251 +name: HIV enteropathy +def: "A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:13252 +name: mesenteric vascular occlusion +xref: MSH:D008641 +xref: UMLS_CUI:C0025472 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:13253 +name: jejunal disease +is_obsolete: true + +[Term] +id: DOID:13254 +name: diverticulitis of colon +alt_id: DOID:10757 +def: "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall." [url:https\://en.wikipedia.org/wiki/Diverticulitis] +synonym: "Diverticulitis of colon with hemorrhage" EXACT [] +synonym: "Diverticulosis of colon with hemorrhage" EXACT [] +xref: ICD9CM:562.12 +xref: UMLS_CUI:C0156168 +is_a: DOID:5353 ! colonic disease + +[Term] +id: DOID:13257 +name: Histoplasma duboisii endocarditis +def: "An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions." [url:http\://emedicine.medscape.com/article/299054-overview] +synonym: "Histoplasma duboisii with endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187051006] +is_obsolete: true + +[Term] +id: DOID:13258 +name: typhoid fever +alt_id: DOID:3054 +def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." [url:http\://www.merriam-webster.com/medlineplus/typhoid%20fever] +subset: gram-negative_bacterial_infectious_disease +synonym: "Fever: [typhoid] or [enteric]" EXACT [SNOMEDCT_2005_07_31:186091002] +synonym: "Typhoid" EXACT [SNOMEDCT_2005_07_31:154270009] +synonym: "Typhoid" EXACT [SNOMEDCT_2005_07_31:266174006] +synonym: "typhoid" EXACT [CSP2005:0368-2741] +synonym: "Typhoid fever" EXACT [ICD9CM_2006:002.0] +synonym: "Typhoid fever (disorder)" EXACT [SNOMEDCT_2005_07_31:4834000] +synonym: "Typhoid infection" EXACT [MTHICD9_2006:002.0] +xref: ICD10CM:A01.0 +xref: ICD10CM:A01.00 +xref: ICD9CM:002.0 +xref: MSH:D014435 +xref: NCI:C35089 +xref: SNOMEDCT_US_2015_03_01:154270009 +xref: SNOMEDCT_US_2015_03_01:186091002 +xref: SNOMEDCT_US_2015_03_01:266174006 +xref: SNOMEDCT_US_2015_03_01:4834000 +xref: UMLS_CUI:C0041466 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13262 +name: hallucinatory state induced by drug +synonym: "Drug-induced hallucinatory state" EXACT [SNOMEDCT_2005_07_31:28368009] +synonym: "Drug-induced hallucinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:191486006] +synonym: "Drug-induced psychotic disorder with hallucinations" EXACT [ICD9CM_2006:292.12] +is_obsolete: true + +[Term] +id: DOID:13268 +name: porphyria +def: "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins." [url:http\://en.wikipedia.org/wiki/Porphyria#Subtypes] +synonym: "disorder of porphyrin and hem metabolism" EXACT [SNOMEDCT_2005_07_31:238052001] +synonym: "disorder of porphyrin metabolism" EXACT [ICD9CM_2006:277.1] +synonym: "Hematoporphyria" EXACT [MTHICD9_2006:277.1] +synonym: "Porphyrinopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:371628009] +xref: ICD10CM:E80.20 +xref: ICD9CM:277.1 +xref: MSH:D011164 +xref: NCI:C97096 +xref: SNOMEDCT_US_2015_03_01:154768004 +xref: SNOMEDCT_US_2015_03_01:190912004 +xref: SNOMEDCT_US_2015_03_01:190916001 +xref: SNOMEDCT_US_2015_03_01:238052001 +xref: SNOMEDCT_US_2015_03_01:274090006 +xref: SNOMEDCT_US_2015_03_01:29094004 +xref: SNOMEDCT_US_2015_03_01:371628009 +xref: SNOMEDCT_US_2015_03_01:418470004 +xref: SNOMEDCT_US_2015_03_01:86292002 +xref: UMLS_CUI:C0032708 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:13269 +name: hereditary coproporphyria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Coproporphyrinogen oxidase deficiency" EXACT [SNOMEDCT_2005_07_31:238055004] +synonym: "Hereditary coproporphyria" EXACT [MTHICD9_2006:277.1] +synonym: "Hereditary coproporphyria (disorder)" EXACT [SNOMEDCT_2005_07_31:7425008] +synonym: "hereditary coproporphyria porphyria" EXACT [CSP2005:1849-7674] +xref: ICD10CM:E80.29 +xref: MSH:D046349 +xref: NCI:C84759 +xref: OMIM:121300 +xref: SNOMEDCT_US_2015_03_01:238055004 +xref: SNOMEDCT_US_2015_03_01:7425008 +xref: UMLS_CUI:C0162531 +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:13270 +name: erythropoietic protoporphyria +def: "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue." [url:http\://en.wikipedia.org/wiki/Erythropoietic_protoporphyria] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [CSP2005:1849-7560] +synonym: "Erythropoietic protoporphyria (disorder)" EXACT [SNOMEDCT_2005_07_31:51022005] +synonym: "Protoporphyria" EXACT [MTHICD9_2006:277.1] +xref: ICD10CM:E80.0 +xref: MSH:D046351 +xref: NCI:C84698 +xref: OMIM:177000 +xref: OMIM:300752 +xref: ORDO:79278 +xref: SNOMEDCT_US_2015_03_01:51022005 +xref: UMLS_CUI:C0162568 +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:13271 +name: cutaneous porphyria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Erythropoietic porphyria (disorder)" EXACT [SNOMEDCT_2005_07_31:67312003] +xref: ICD10CM:E80.0 +xref: MSH:D017092 +xref: NCI:C84697 +xref: OMIM:263700 +xref: SNOMEDCT_US_2015_03_01:190913009 +xref: SNOMEDCT_US_2015_03_01:22935002 +xref: SNOMEDCT_US_2015_03_01:67312003 +xref: UMLS_CUI:C0162530 +is_a: DOID:13268 ! porphyria + +[Term] +id: DOID:13272 +name: Klebsiella pneumonia +def: "A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble \"red-currant jelly\". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis." [url:http\://books.google.com/books?id=Bv68Qo6apvQC&pg=PA639&lpg#v=onepage&q=&f=false, url:http\://en.wikipedia.org/wiki/Klebsiella_pneumonia] +subset: gram-negative_bacterial_infectious_disease +synonym: "Pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM_2006:482.0] +synonym: "Pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:64479007] +is_obsolete: true + +[Term] +id: DOID:13273 +name: Escherichia coli pneumonia +def: "A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages." [url:http\://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false] +subset: gram-negative_bacterial_infectious_disease +synonym: "Pneumonia due to escherichia coli" EXACT [MTHICD9_2006:482.82] +synonym: "pneumonia due to escherichia coli" EXACT [] +synonym: "Pneumonia due to Escherichia coli (disorder)" EXACT [SNOMEDCT_2005_07_31:51530003] +synonym: "Pneumonia due to escherichia coli [E. coli]" EXACT [ICD9CM_2006:482.82] +is_obsolete: true + +[Term] +id: DOID:13274 +name: enzootic pneumonia of calves +def: "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm] +synonym: "Enzootic pneumonia of calves (disorder)" EXACT [SNOMEDCT_2005_07_31:57086000] +is_obsolete: true + +[Term] +id: DOID:13275 +name: rickettsial pneumonia +def: "A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false] +subset: gram-negative_bacterial_infectious_disease +synonym: "Rickettsial pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:233621003] +is_obsolete: true + +[Term] +id: DOID:13276 +name: Mycoplasma pneumoniae pneumonia +def: "A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000082.htm] +subset: gram-negative_bacterial_infectious_disease +synonym: "cold agglutinin positive pneumonia" EXACT [CSP2005:2596-5678] +synonym: "Mycoplasmal pneumonia" EXACT [SNOMEDCT_2005_07_31:195894001] +synonym: "Mycoplasmal pneumonia" EXACT [SNOMEDCT_2005_07_31:195895000] +synonym: "Mycoplasmal pneumonia" EXACT [SNOMEDCT_2005_07_31:155554001] +synonym: "Pneumonia due to Eaton's agent" EXACT [MTHICD9_2006:483.0] +synonym: "Pneumonia due to Mycoplasma pneumoniae" EXACT [ICD9CM_2006:483.0] +synonym: "Pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:46970008] +is_obsolete: true + +[Term] +id: DOID:13277 +name: Mycoplasma hyopneumoniae pneumonia +def: "A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough." [url:http\://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false] +subset: gram-negative_bacterial_infectious_disease +synonym: "mycoplasmal pneumonia of swine" EXACT [] +is_obsolete: true + +[Term] +id: DOID:13278 +name: Salmonella pneumonia +def: "A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Salmonella pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:2523007] +is_obsolete: true + +[Term] +id: DOID:1328 +name: Rift Valley fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites." [url:ftp\://ftp.fao.org/docrep/fao/005/y4140e/y4140e00.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm, url:http\://www.who.int/mediacentre/factsheets/fs207/en/] +subset: zoonotic_infectious_disease +xref: ICD10CM:A92.4 +xref: MSH:D012295 +xref: SNOMEDCT_US_2015_03_01:402917003 +xref: SNOMEDCT_US_2015_03_01:7077006 +xref: UMLS_CUI:C0035613 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:13282 +name: intestinal tuberculosis +def: "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting." [url:http\://smj.sma.org.sg/5006/5006pe1.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of intestine" EXACT [] +xref: ICD9CM:014.8 +xref: UMLS_CUI:C0152724 +is_a: DOID:404 ! gastrointestinal tuberculosis + +[Term] +id: DOID:13285 +name: enteroinvasive Escherichia coli infectious disease +def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Enteroinvasive Escherichia coli gastrointestinal tract infection" EXACT [SNOMEDCT_2005_07_31:186132008] +synonym: "Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240355008] +synonym: "intestinal infectious disease due to enteroinvasive E. coli" EXACT [ICD9CM_2006:008.03] +is_obsolete: true + +[Term] +id: DOID:13295 +name: crater-like holes of optic disc +synonym: "Crater-like holes of optic disc (disorder)" EXACT [SNOMEDCT_2005_07_31:19148004] +synonym: "Crater-like optic disc holes (disorder)" EXACT [SNOMEDCT_2005_07_31:194048008] +xref: ICD9CM:377.22 +xref: SNOMEDCT_US_2015_03_01:19148004 +xref: SNOMEDCT_US_2015_03_01:194048008 +xref: UMLS_CUI:C0155298 +is_a: DOID:1393 ! visual pathway disease + +[Term] +id: DOID:133 +name: vaginal mullerian papilloma +xref: NCI:C40255 +xref: UMLS_CUI:C1519926 +is_a: DOID:134 ! vaginal glandular tumor + +[Term] +id: DOID:13300 +name: Scheuermann's disease +def: "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column." [url:http\://emedicine.medscape.com/article/311959-overview, url:http\://en.wikipedia.org/wiki/Scheuermann%27s_disease, url:http\://www.spineuniverse.com/conditions/kyphosis/scheuermanns-kyphosis-scheuermanns-disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Juvenile osteochondritis of the spine" EXACT [SNOMEDCT_2005_07_31:203415006] +synonym: "Juvenile osteochondrosis of Scheurermann" EXACT [MTHICD9_2006:732.0] +synonym: "Juvenile osteochondrosis of spine" EXACT [ICD9CM_2006:732.0] +synonym: "Scheuermann disease" NARROW [] +synonym: "Scheuermann's kyphosis" EXACT [] +synonym: "Sherman's Disease" EXACT [] +xref: ICD10CM:M42.0 +xref: ICD10CM:M42.00 +xref: ICD9CM:732.0 +xref: MSH:D012544 +xref: NCI:C34999 +xref: OMIM:181440 +xref: SNOMEDCT_US_2015_03_01:156816000 +xref: SNOMEDCT_US_2015_03_01:203361005 +xref: SNOMEDCT_US_2015_03_01:203362003 +xref: SNOMEDCT_US_2015_03_01:203364002 +xref: SNOMEDCT_US_2015_03_01:203415006 +xref: SNOMEDCT_US_2015_03_01:53406005 +xref: UMLS_CUI:C0036310 +is_a: DOID:8125 ! osteochondrosis + +[Term] +id: DOID:13305 +name: anterior nasal diphtheria +def: "A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Anterior nasal diphtheria" EXACT [ICD9CM_2006:032.2] +synonym: "Anterior nasal diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:15682004] +is_obsolete: true + +[Term] +id: DOID:13306 +name: diphtheritic cystitis +def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." [url:http\://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/18889690] +synonym: "Diphtheritic cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:48278001] +xref: ICD10CM:A36.85 +xref: ICD9CM:032.84 +xref: SNOMEDCT_US_2015_03_01:197847008 +xref: SNOMEDCT_US_2015_03_01:48278001 +xref: UMLS_CUI:C0152954 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:13307 +name: pseudomembranous diphtheritic conjunctivitis +def: "A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane." [url:http\://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false] +synonym: "Conjunctival diphtheria" EXACT [ICD9CM_2006:032.81] +synonym: "Conjunctival diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:7773002] +synonym: "Pseudomembranous Diphtheritic Conjunctivitis" EXACT [NCI2004_11_17:C34543] +is_obsolete: true + +[Term] +id: DOID:13308 +name: diphtheritic myocarditis +def: "A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae." [url:http\://www.journals.uchicago.edu/doi/abs/10.1086/344176] +synonym: "Diphtheritic myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:26117009] +is_obsolete: true + +[Term] +id: DOID:13309 +name: nasopharyngeal diphtheria +def: "A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic \"bullneck\" apprearance." [url:http\://www.jstor.org/stable/3417440?seq=2] +subset: gram-positive_bacterial_infectious_disease +synonym: "Nasopharyngeal Diphtheria" EXACT [NCI2004_11_17:C34547] +synonym: "Nasopharyngeal diphtheria (disorder)" EXACT [SNOMEDCT_2005_07_31:75589004] +is_obsolete: true + +[Term] +id: DOID:13310 +name: diphtheritic peritonitis +def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." [url:http\://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false] +xref: ICD10CM:A36.89 +xref: ICD9CM:032.83 +xref: SNOMEDCT_US_2015_03_01:13596001 +xref: UMLS_CUI:C0152953 +is_a: DOID:8283 ! peritonitis + +[Term] +id: DOID:13313 +name: pancreatic mucinous ductal ectasia +xref: NCI:C5717 +xref: UMLS_CUI:C1335310 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:13315 +name: relapsing pancreatitis +is_obsolete: true + +[Term] +id: DOID:13316 +name: exocrine pancreatic insufficiency +synonym: "Exocrine pancreatic insufficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:47367009] +xref: MSH:D010188 +xref: NCI:C84316 +xref: SNOMEDCT_US_2015_03_01:47367009 +xref: UMLS_CUI:C0267963 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:13317 +name: hyperinsulinemic hypoglycemia +alt_id: DOID:9996 +def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." [url:http\://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Islet cell hyperplasia" EXACT [SNOMEDCT_2005_07_31:66149005] +synonym: "nesidioblastosis" EXACT [] +synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [] +xref: ICD10CM:E16.9 +xref: MSH:D046768 +xref: NCI:C4375 +xref: OMIM:256450 +xref: OMIM:601820 +xref: OMIM:602485 +xref: OMIM:606762 +xref: OMIM:609968 +xref: OMIM:609975 +xref: OMIM:610021 +xref: SNOMEDCT_US_2015_03_01:190450004 +xref: SNOMEDCT_US_2015_03_01:42681006 +xref: SNOMEDCT_US_2015_03_01:66149005 +xref: UMLS_CUI:C0027773 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:13319 +name: lower limb lymph node mast cell malignancy +synonym: "malignant mast cell tumors involving lymph nodes of inguinal region and lower limb" EXACT [ICD9CM_2006:202.65] +synonym: "Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188666005] +is_obsolete: true + +[Term] +id: DOID:1332 +name: Bunyaviridae infectious disease +def: "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." [url:http\://en.wikipedia.org/wiki/Bunyaviridae] +is_obsolete: true + +[Term] +id: DOID:13326 +name: chronic follicular conjunctivitis +synonym: "chronic follicular conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:39429002] +xref: ICD10CM:H10.43 +xref: ICD9CM:372.12 +xref: SNOMEDCT_US_2015_03_01:39429002 +xref: UMLS_CUI:C0155147 +is_a: DOID:2475 ! chronic conjunctivitis + +[Term] +id: DOID:13327 +name: anatomical narrow angle borderline glaucoma +xref: ICD9CM:365.02 +xref: UMLS_CUI:C0154941 +is_a: DOID:9283 ! borderline glaucoma + +[Term] +id: DOID:13328 +name: diabetic cataract +synonym: "Cataract - diabetic" EXACT [SNOMEDCT_2005_07_31:154678005] +synonym: "Cataract - diabetic" EXACT [SNOMEDCT_2005_07_31:267471001] +synonym: "Diabetic cataract" EXACT [SNOMEDCT_2005_07_31:155129005] +synonym: "Diabetic cataract" EXACT [SNOMEDCT_2005_07_31:267722005] +synonym: "Diabetic cataract" EXACT [ICD9CM_2006:366.41] +synonym: "Diabetic cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:43959009] +xref: ICD9CM:366.41 +xref: SNOMEDCT_US_2015_03_01:154678005 +xref: SNOMEDCT_US_2015_03_01:155129005 +xref: SNOMEDCT_US_2015_03_01:267471001 +xref: SNOMEDCT_US_2015_03_01:267722005 +xref: SNOMEDCT_US_2015_03_01:43959009 +xref: UMLS_CUI:C0011876 +is_a: DOID:83 ! cataract + +[Term] +id: DOID:13329 +name: toxic optic neuropathy +synonym: "Toxic optic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:26125006] +synonym: "Toxic optic neuropathy [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:194053003] +xref: ICD10CM:H46.3 +xref: ICD9CM:377.34 +xref: SNOMEDCT_US_2015_03_01:194053003 +xref: SNOMEDCT_US_2015_03_01:26125006 +xref: UMLS_CUI:C0155303 +is_a: DOID:1210 ! optic neuritis + +[Term] +id: DOID:1333 +name: african horse sickness +def: "A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf] +subset: tick-borne_infectious_disease +is_obsolete: true + +[Term] +id: DOID:13333 +name: hypertrophy of tongue papillae +synonym: "hypertrophy of tongue papillae (disorder)" EXACT [SNOMEDCT_2005_07_31:6971002] +synonym: "Tongue papillary hypertrophy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196584007] +xref: ICD10CM:K14.3 +xref: ICD9CM:529.3 +xref: SNOMEDCT_US_2015_03_01:196584007 +xref: SNOMEDCT_US_2015_03_01:6971002 +xref: UMLS_CUI:C0392494 +is_a: DOID:10944 ! tongue disease + +[Term] +id: DOID:13335 +name: Toxoplasma hepatitis +def: "A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice." [url:http\://www.ncbi.nlm.nih.gov/pubmed/7111119] +synonym: "Hepatitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.5] +synonym: "Toxoplasma hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187197006] +is_obsolete: true + +[Term] +id: DOID:13336 +name: congenital toxoplasmosis +def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] +synonym: "Congenital toxoplasmosis" EXACT [SNOMEDCT_2005_07_31:206335001] +synonym: "Congenital toxoplasmosis" EXACT [MTHICD9_2006:771.2] +synonym: "Congenital toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:73893000] +synonym: "Toxoplasmosis - congen." EXACT [SNOMEDCT_2005_07_31:157118007] +synonym: "Toxoplasmosis - congen." EXACT [SNOMEDCT_2005_07_31:268875000] +xref: ICD10CM:P37.1 +xref: MSH:D014125 +xref: NCI:C50503 +xref: SNOMEDCT_US_2015_03_01:157118007 +xref: SNOMEDCT_US_2015_03_01:206335001 +xref: SNOMEDCT_US_2015_03_01:268875000 +xref: SNOMEDCT_US_2015_03_01:73893000 +xref: UMLS_CUI:C0040560 +is_a: DOID:9965 ! toxoplasmosis + +[Term] +id: DOID:13338 +name: Toxoplasma myocarditis +def: "A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain." [url:http\://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf] +synonym: "Myocarditis due to acquired toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:76534005] +synonym: "Myocarditis due to toxoplasmosis" EXACT [ICD9CM_2006:130.3] +synonym: "Toxoplasma myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187195003] +is_obsolete: true + +[Term] +id: DOID:1334 +name: Reoviridae infectious disease +def: "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." [url:http\://www.expasy.org/viralzone/all_by_species/104.html] +synonym: "disease due to Orthoreovirus" EXACT [SNOMEDCT_2005_07_31:414016004] +synonym: "disease due to Reoviridae (disorder)" EXACT [SNOMEDCT_2005_07_31:105634001] +synonym: "disease due to Reovirus (disorder)" EXACT [SNOMEDCT_2005_07_31:28556001] +synonym: "Reoviridae disease" EXACT [CSP2005:3100-1539] +is_obsolete: true + +[Term] +id: DOID:13341 +name: parasitic conjunctivitis +synonym: "Parasitic conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13816006] +xref: ICD9CM:372.15 +xref: SNOMEDCT_US_2015_03_01:13816006 +xref: UMLS_CUI:C0155148 +is_a: DOID:2475 ! chronic conjunctivitis + +[Term] +id: DOID:13342 +name: Toxoplasma pneumonia +def: "A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales." [url:http\://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8519364] +synonym: "Pneumonitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.4] +synonym: "Toxoplasma pneumonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187196002] +is_obsolete: true + +[Term] +id: DOID:13343 +name: ocular toxoplasmosis +alt_id: DOID:13337 +alt_id: DOID:13340 +def: "A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] +synonym: "Chorioretinitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.2] +synonym: "Conjunctivitis due to acquired toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:67372006] +synonym: "Conjunctivitis due to toxoplasmosis" EXACT [ICD9CM_2006:130.1] +synonym: "ocular toxoplasmosis" EXACT [CSP2005:2214-6054] +synonym: "Ocular toxoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:416481006] +synonym: "Toxoplasma chorioretinitis" EXACT [] +synonym: "Toxoplasma conjunctivitis" EXACT [] +synonym: "Toxoplasmosis chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187194004] +is_obsolete: true + +[Term] +id: DOID:13348 +name: laryngeal cartilage cancer +synonym: "malignant neoplasm of laryngeal cartilage NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187847005] +synonym: "malignant neoplasm of laryngeal cartilages" EXACT [ICD9CM_2006:161.3] +synonym: "malignant tumor of laryngeal cartilage (disorder)" EXACT [SNOMEDCT_2005_07_31:363431006] +xref: ICD10CM:C32.3 +xref: ICD9CM:161.3 +xref: SNOMEDCT_US_2015_03_01:109370001 +xref: SNOMEDCT_US_2015_03_01:187847005 +xref: SNOMEDCT_US_2015_03_01:363431006 +xref: UMLS_CUI:C0153486 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:1335 +name: bluetongue +def: "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue." [url:http\://en.wikipedia.org/wiki/Bluetongue_disease] +synonym: "Soremuzzle" RELATED [] +is_obsolete: true + +[Term] +id: DOID:13350 +name: gender identity disorder in children +synonym: "Gender identity disorder of childhood (disorder)" EXACT [SNOMEDCT_2005_07_31:5095008] +is_obsolete: true + +[Term] +id: DOID:13351 +name: pedophilia +synonym: "Paedophilia" EXACT [SNOMEDCT_2005_07_31:268763002] +xref: ICD10CM:F65.4 +xref: ICD9CM:302.2 +xref: MSH:D010378 +xref: NCI:C94355 +xref: SNOMEDCT_US_2015_03_01:154907002 +xref: SNOMEDCT_US_2015_03_01:192516001 +xref: SNOMEDCT_US_2015_03_01:268763002 +xref: SNOMEDCT_US_2015_03_01:84002002 +xref: UMLS_CUI:C0030764 +is_a: DOID:0060044 ! paraphilia disorder + +[Term] +id: DOID:13352 +name: ego-dystonic sexual orientation +def: "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." [url:http\://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation] +xref: ICD9CM:302.0 +xref: SNOMEDCT_US_2015_03_01:52813007 +xref: UMLS_CUI:C0233880 +is_a: DOID:1234 ! gender identity disorder + +[Term] +id: DOID:13353 +name: diffuse interstitial keratitis +synonym: "Diffuse interstitial keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:17157001] +xref: ICD10CM:H16.32 +xref: ICD9CM:370.52 +xref: SNOMEDCT_US_2015_03_01:17157001 +xref: SNOMEDCT_US_2015_03_01:193785001 +xref: SNOMEDCT_US_2015_03_01:267635007 +xref: UMLS_CUI:C0155089 +is_a: DOID:9857 ! interstitial keratitis + +[Term] +id: DOID:13356 +name: senile ectropion +synonym: "Involutional ectropion" EXACT [SNOMEDCT_2005_07_31:71659009] +xref: ICD9CM:374.11 +xref: SNOMEDCT_US_2015_03_01:71659009 +xref: UMLS_CUI:C0155193 +is_a: DOID:1570 ! ectropion + +[Term] +id: DOID:13357 +name: chondromalacia patellae +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Chondromalacia of patella" EXACT [ICD9CM_2006:717.7] +synonym: "Chondromalacia of patella (disorder)" EXACT [SNOMEDCT_2005_07_31:36071006] +synonym: "Chondromalacia patellae" EXACT [SNOMEDCT_2005_07_31:156521009] +synonym: "softening of articular cartilage of patella" EXACT [MTHICD9_2006:717.7] +xref: ICD10CM:M22.4 +xref: ICD9CM:717.7 +xref: MSH:D046789 +xref: OMIM:168900 +xref: SNOMEDCT_US_2015_03_01:156521009 +xref: SNOMEDCT_US_2015_03_01:36071006 +xref: UMLS_CUI:C0008475 +is_a: DOID:2557 ! chondromalacia + +[Term] +id: DOID:13359 +name: Ehlers-Danlos syndrome +alt_id: DOID:14696 +def: "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." [url:http\://emedicine.medscape.com/article/1114004-overview, url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.ednf.org/, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.medicinenet.com/ehlers-danlos_syndrome/article.htm, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.ncbi.nlm.nih.gov/pubmed/23711271, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html] +comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping by NeuroDevNet. [LS]. +synonym: "Cutis hyperelastica" EXACT [SNOMEDCT_2005_07_31:238848002] +synonym: "elastic skin" EXACT [CSP2005:1849-3115] +xref: ICD10CM:Q79.6 +xref: ICD9CM:756.83 +xref: MSH:D004535 +xref: NCI:C34568 +xref: OMIM:225400 +xref: SNOMEDCT_US_2015_03_01:157008000 +xref: SNOMEDCT_US_2015_03_01:2300005 +xref: SNOMEDCT_US_2015_03_01:238848002 +xref: SNOMEDCT_US_2015_03_01:268352002 +xref: SNOMEDCT_US_2015_03_01:398114001 +xref: UMLS_CUI:C0013720 +is_a: DOID:854 ! collagen disease + +[Term] +id: DOID:1336 +name: Nairobi sheep disease +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf] +subset: tick-borne_infectious_disease +synonym: "Nairobi sheep virus disease (disorder)" EXACT [SNOMEDCT_2005_07_31:24069003] +synonym: "Nairobi sheep virus gastroenteritis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:13361 +name: nephrotic syndrome with lesion of proliferative glomerulonephritis +synonym: "Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis" EXACT [NCI2004_11_17:C35214] +is_obsolete: true + +[Term] +id: DOID:13364 +name: chronobiology disease +xref: MSH:D021081 +xref: UMLS_CUI:C0236811 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:13365 +name: reading disorder +def: "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process." [url:http\://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29, url:http\://en.wikipedia.org/wiki/Reading_disability] +xref: ICD9CM:315.09 +xref: UMLS_CUI:C0154631 +is_a: DOID:8927 ! learning disability + +[Term] +id: DOID:13366 +name: Stiff-Person syndrome +def: "A movement disease that is of unknown etiology characterized by progressive rigidity." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Stiff_person_syndrome] +synonym: "stiff man syndrome" EXACT [CSP2005:2057-3403] +synonym: "Stiff-man syndrome" EXACT [ICD9CM_2006:333.91] +synonym: "Stiff-man syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:5217008] +xref: ICD10CM:G25.82 +xref: ICD9CM:333.91 +xref: MSH:D016750 +xref: NCI:C85170 +xref: OMIM:184850 +xref: SNOMEDCT_US_2015_03_01:5217008 +xref: UMLS_CUI:C0085292 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:13368 +name: tinea profunda +def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses." [url:http\://www.doctorfungus.org/mycoses/human/other/tineacorporis_cruris_pedis.htm] +synonym: "(Deep seated dermatophytosis) or (granuloma: [trichophyticum] or [Majocchi's])" EXACT [SNOMEDCT_2005_07_31:186995009] +synonym: "Deep Seated Dermatophytosis" EXACT [NCI2004_11_17:C35073] +synonym: "Deep seated dermatophytosis" EXACT [ICD9CM_2006:110.6] +synonym: "Deep seated dermatophytosis (disorder)" EXACT [SNOMEDCT_2005_07_31:266152000] +synonym: "Granuloma trichophyticum" EXACT [MTHICD9_2006:110.6] +synonym: "Majocchi's granuloma" EXACT [SNOMEDCT_2005_07_31:214600002] +synonym: "Tinea profunda (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:58950002] +xref: SNOMEDCT_US_2015_03_01:186995009 +xref: SNOMEDCT_US_2015_03_01:214600002 +xref: SNOMEDCT_US_2015_03_01:58950002 +xref: UMLS_CUI:C1279621 +is_a: DOID:12179 ! tinea corporis + +[Term] +id: DOID:13369 +name: tinea manuum +def: "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling." [url:http\://en.wikipedia.org/wiki/Tinea_manuum] +synonym: "Dermatophytosis of hand" EXACT [ICD9CM_2006:110.2] +synonym: "Tinea manus (disorder)" EXACT [SNOMEDCT_2005_07_31:48971001] +xref: ICD10CM:B35.2 +xref: ICD9CM:110.2 +xref: SNOMEDCT_US_2015_03_01:48971001 +xref: UMLS_CUI:C0153246 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:13371 +name: scrub typhus +def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy." [url:http\://en.wikipedia.org/wiki/Scrub_typhus] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Chigger-borne rickettsiosis" RELATED [] +synonym: "Chigger-borne typhus" RELATED [] +synonym: "Japanese river fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240620004] +synonym: "Kedani fever (disorder)" EXACT [SNOMEDCT_2005_07_31:240621000] +synonym: "Mite-borne rickettsiosis" RELATED [] +synonym: "Mite-borne typhus" RELATED [] +synonym: "Scrub (mite-borne) typhus" RELATED [] +synonym: "Scrub mite-borne typhus (& various types)" EXACT [SNOMEDCT_2005_07_31:186768005] +synonym: "Scrub typhus" EXACT [ICD9CM_2006:081.2] +synonym: "Scrub typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:271425001] +synonym: "Scrub typhus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:73911003] +synonym: "Tropical typhus" RELATED [] +synonym: "Tsutsugamushi" EXACT [MTHICD9_2006:081.2] +synonym: "tsutsugamushi disease" EXACT [CSP2005:2623-8052] +synonym: "Tsutsugamushi disease (disorder)" EXACT [SNOMEDCT_2005_07_31:240622007] +synonym: "Tsutsugamushi fever" RELATED [] +synonym: "Typhus fever due to Rickettsia tsutsugamushi" RELATED [] +xref: ICD10CM:A75.3 +xref: ICD9CM:081.2 +xref: MSH:D012612 +xref: SNOMEDCT_US_2015_03_01:186768005 +xref: SNOMEDCT_US_2015_03_01:240620004 +xref: SNOMEDCT_US_2015_03_01:240621000 +xref: SNOMEDCT_US_2015_03_01:240622007 +xref: SNOMEDCT_US_2015_03_01:271425001 +xref: SNOMEDCT_US_2015_03_01:73911003 +xref: UMLS_CUI:C0036472 +is_a: DOID:11256 ! typhus + +[Term] +id: DOID:13372 +name: alpha 1-antitrypsin deficiency +def: "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." [url:http\://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000120.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "AAT deficiency" EXACT [MTHICD9_2006:273.4] +xref: ICD10CM:E88.01 +xref: ICD9CM:273.4 +xref: MSH:D019896 +xref: NCI:C84397 +xref: OMIM:613490 +xref: SNOMEDCT_US_2015_03_01:154771007 +xref: SNOMEDCT_US_2015_03_01:30188007 +xref: UMLS_CUI:C0221757 +is_a: DOID:2345 ! plasma protein metabolism disease + +[Term] +id: DOID:13374 +name: fibrodysplasia ossificans progressiva +def: ".A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene." [url:http\://emedicine.medscape.com/article/1112501-overview, url:http\://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, url:http\://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, url:http\://omim.org/entry/135100, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, url:http\://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "myositis ossificans progressiva" EXACT [SNOMEDCT_2005_07_31:205527009] +synonym: "progressive myositis ossificans" EXACT [ICD9CM_2006:728.11] +synonym: "progressive ossifying myositis" EXACT [CSP2005:1982-9828] +synonym: "Stone Man Syndrome" EXACT [] +xref: ICD10CM:M61.1 +xref: ICD10CM:M61.10 +xref: ICD9CM:728.11 +xref: MSH:D009221 +xref: NCI:C3040 +xref: OMIM:135100 +xref: SNOMEDCT_US_2015_03_01:205527009 +xref: SNOMEDCT_US_2015_03_01:240121004 +xref: SNOMEDCT_US_2015_03_01:82725007 +xref: UMLS_CUI:C0016037 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:13375 +name: temporal arteritis +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Giant cell Arteritis" EXACT [NCI2004_11_17:C35065] +synonym: "Giant cell arteritis" EXACT [SNOMEDCT_2005_07_31:195354005] +synonym: "Giant cell arteritis" EXACT [SNOMEDCT_2005_07_31:195355006] +synonym: "Giant cell arteritis" EXACT [ICD9CM_2006:446.5] +synonym: "Giant cell arteritis" EXACT [SNOMEDCT_2005_07_31:195356007] +synonym: "giant cell arteritis" EXACT [CSP2005:0617-5624] +synonym: "Giant cell arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:155442004] +synonym: "Giant cell arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:414341000] +synonym: "Giant cell arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:87511001] +synonym: "Giant cell arteritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195357003] +synonym: "Horton's disease" EXACT [MTHICD9_2006:446.5] +synonym: "Temporal arteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:400130008] +xref: ICD9CM:446.5 +xref: MSH:D013700 +xref: NCI:C35065 +xref: OMIM:187360 +xref: SNOMEDCT_US_2015_03_01:155442004 +xref: SNOMEDCT_US_2015_03_01:195354005 +xref: SNOMEDCT_US_2015_03_01:195355006 +xref: SNOMEDCT_US_2015_03_01:195356007 +xref: SNOMEDCT_US_2015_03_01:195357003 +xref: SNOMEDCT_US_2015_03_01:400130008 +xref: SNOMEDCT_US_2015_03_01:414341000 +xref: SNOMEDCT_US_2015_03_01:87511001 +xref: UMLS_CUI:C0039483 +is_a: DOID:525 ! central nervous system vasculitis + +[Term] +id: DOID:13376 +name: congenital aortic insufficiency +synonym: "Congenital aortic valve insufficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:204358001] +synonym: "Congenital aortic valve insufficiency NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204360004] +synonym: "Congenital aortic valve insufficiency, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:204359009] +synonym: "Congenital bicuspid aortic valve insufficiency" EXACT [MTHICD9_2006:746.4] +synonym: "Congenital insufficiency of aortic valve" EXACT [ICD9CM_2006:746.4] +synonym: "Congenital insufficiency of aortic valve (disorder)" EXACT [SNOMEDCT_2005_07_31:28656008] +is_obsolete: true + +[Term] +id: DOID:13378 +name: Kawasaki disease +def: "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities." [url:http\://en.wikipedia.org/wiki/Kawasaki_disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acute febrile MCLS" EXACT [MTHICD9_2006:446.1] +synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [ICD9CM_2006:446.1] +synonym: "Kawasaki's disease" EXACT [SNOMEDCT_2005_07_31:195348009] +synonym: "MLNS" EXACT [CSP2005:0571-6720] +synonym: "mucocutaneous lymph node syndrome" EXACT [] +xref: EFO:0004246 +xref: ICD10CM:M30.3 +xref: ICD9CM:446.1 +xref: MSH:D009080 +xref: NCI:C34825 +xref: OMIM:611775 +xref: SNOMEDCT_US_2015_03_01:155444003 +xref: SNOMEDCT_US_2015_03_01:195348009 +xref: SNOMEDCT_US_2015_03_01:195349001 +xref: SNOMEDCT_US_2015_03_01:75053002 +xref: UMLS_CUI:C0026691 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:1338 +name: congenital dyserythropoietic anemia +def: "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood." [url:http\://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia, url:http\://www.ncbi.nlm.nih.gov/books/NBK5313/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "congenital dyshaematopoietic anaemia" EXACT [SNOMEDCT_2005_07_31:191272005] +xref: ICD10CM:D64.4 +xref: MSH:D000742 +xref: NCI:C84646 +xref: OMIM:105600 +xref: OMIM:224100 +xref: OMIM:224120 +xref: OMIM:613673 +xref: OMIM:615631 +xref: ORDO:85 +xref: SNOMEDCT_US_2015_03_01:191272005 +xref: SNOMEDCT_US_2015_03_01:52951008 +xref: UMLS_CUI:C0002876 +is_a: DOID:589 ! congenital hemolytic anemia + +[Term] +id: DOID:13380 +name: acute pyelonephritis with lesion of renal medullary necrosis +is_obsolete: true + +[Term] +id: DOID:13381 +name: pernicious anemia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Addison's anaemia" EXACT [SNOMEDCT_2005_07_31:191139001] +synonym: "ANEMIA PERNICIOUS" EXACT [MTH:NOCODE] +synonym: "Biermer's anemia" EXACT [MTHICD9_2006:281.0] +xref: ICD10CM:D51.0 +xref: ICD9CM:281.0 +xref: MSH:D000752 +xref: NCI:C2871 +xref: OMIM:170900 +xref: SNOMEDCT_US_2015_03_01:154789008 +xref: SNOMEDCT_US_2015_03_01:191139001 +xref: SNOMEDCT_US_2015_03_01:84027009 +xref: UMLS_CUI:C0002892 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:13382 +name: megaloblastic anemia +def: "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production." [url:http\://en.wikipedia.org/wiki/Megaloblastic_anemia] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Grasbeck-Imerslund syndrome" EXACT [] +synonym: "IGS" RELATED [] +synonym: "Imerslund-Grasbeck syndrome" EXACT [] +synonym: "MGA1 Norwegian type" EXACT [] +synonym: "recessive hereditary megaloblastic anemia 1 " EXACT [] +synonym: "RH-MGA1" EXACT [] +xref: ICD10CM:D53.1 +xref: MSH:D000749 +xref: NCI:C34382 +xref: OMIM:261100 +xref: OMIM:613839 +xref: SNOMEDCT_US_2015_03_01:154788000 +xref: SNOMEDCT_US_2015_03_01:154792007 +xref: SNOMEDCT_US_2015_03_01:191138009 +xref: SNOMEDCT_US_2015_03_01:191165002 +xref: SNOMEDCT_US_2015_03_01:191166001 +xref: SNOMEDCT_US_2015_03_01:234357005 +xref: SNOMEDCT_US_2015_03_01:267554004 +xref: SNOMEDCT_US_2015_03_01:53165003 +xref: UMLS_CUI:C0002888 +is_a: DOID:2361 ! macrocytic anemia + +[Term] +id: DOID:13386 +name: gastrointestinal anthrax +def: "An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite." [url:http\://emedicine.medscape.com/article/212127-overview#a0104, url:http\://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous, url:http\://www.springerlink.com/content/g3575hwr232l4411/] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A22.2 +xref: ICD9CM:022.2 +xref: MSH:C571911 +xref: SNOMEDCT_US_2015_03_01:111798006 +xref: SNOMEDCT_US_2015_03_01:186302005 +xref: UMLS_CUI:C0152945 +is_a: DOID:7427 ! anthrax disease + +[Term] +id: DOID:13387 +name: upper limb cancer +synonym: "malignant neoplasm of upper limb" EXACT [ICD9CM_2006:195.4] +synonym: "malignant neoplasm of upper limb NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188371009] +synonym: "malignant neoplasm of upper limb, NOS" EXACT [SNOMEDCT_2005_07_31:94116007] +synonym: "malignant tumor of upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:363503004] +is_obsolete: true + +[Term] +id: DOID:13389 +name: labia majora carcinoma +synonym: "carcinoma of labia majora" RELATED [] +synonym: "Labia Majora cancer" EXACT [NCI2004_11_17:C9363] +xref: NCI:C9363 +xref: UMLS_CUI:C1334356 +is_a: DOID:11905 ! labium majus cancer +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:1339 +name: Diamond-Blackfan anemia +def: "A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction." [url:http\://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, url:http\://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, url:http\://www.cdc.gov/ncbddd/dba/, url:http\://www.omim.org/entry/105650] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Blackfan - Diamond syndrome" EXACT [SNOMEDCT_2005_07_31:191239005] +synonym: "chronic constitutional pure red cell anaemia" EXACT [SNOMEDCT_2005_07_31:188588001] +xref: ICD10CM:D61.01 +xref: MSH:D029503 +xref: NCI:C61236 +xref: OMIM:105650 +xref: OMIM:606129 +xref: OMIM:610629 +xref: OMIM:612527 +xref: OMIM:612528 +xref: OMIM:612561 +xref: OMIM:612562 +xref: OMIM:612563 +xref: OMIM:613308 +xref: OMIM:613309 +xref: OMIM:614900 +xref: OMIM:615550 +xref: OMIM:615909 +xref: ORDO:124 +xref: SNOMEDCT_US_2015_03_01:188588001 +xref: SNOMEDCT_US_2015_03_01:191235004 +xref: SNOMEDCT_US_2015_03_01:191239005 +xref: SNOMEDCT_US_2015_03_01:234371002 +xref: SNOMEDCT_US_2015_03_01:88854002 +xref: UMLS_CUI:C1260899 +is_a: DOID:1342 ! congenital hypoplastic anemia + +[Term] +id: DOID:13397 +name: atypical manic disorder +is_obsolete: true + +[Term] +id: DOID:13398 +name: open angle with borderline glaucoma findings +is_obsolete: true + +[Term] +id: DOID:13399 +name: color blindness +def: "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions." [url:http\://en.wikipedia.org/wiki/Color_blindness] +synonym: "BLINDNESS COLOR" EXACT [MTH:NOCODE] +synonym: "Colour blindness" EXACT [SNOMEDCT_2005_07_31:155143000] +synonym: "Colour vision deficiency" EXACT [SNOMEDCT_2005_07_31:53481002] +xref: ICD10CM:H53.5 +xref: ICD10CM:H53.50 +xref: ICD9CM:368.5 +xref: MSH:D003117 +xref: NCI:C3891 +xref: SNOMEDCT_US_2015_03_01:155143000 +xref: SNOMEDCT_US_2015_03_01:193683001 +xref: SNOMEDCT_US_2015_03_01:193685008 +xref: SNOMEDCT_US_2015_03_01:53481002 +xref: UMLS_CUI:C0242225 +is_a: DOID:1432 ! blindness + +[Term] +id: DOID:134 +name: vaginal glandular tumor +xref: NCI:C40250 +xref: UMLS_CUI:C1519921 +is_a: DOID:119 ! vaginal cancer + +[Term] +id: DOID:1340 +name: pure red-cell aplasia +synonym: "primary red cell aplasia" EXACT [MTHICD9_2006:284.0] +synonym: "Pure Red cell Aplasia" EXACT [NCI2004_11_17:C34974] +synonym: "Pure red cell aplasia" EXACT [MTHICD9_2006:284.8] +synonym: "Pure red cell aplasia" EXACT [SNOMEDCT_2005_07_31:191252000] +synonym: "Pure red cell aplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:50715003] +synonym: "Red cell hypoplasia" EXACT [SNOMEDCT_2005_07_31:191253005] +xref: MSH:D012010 +xref: NCI:C34974 +xref: SNOMEDCT_US_2015_03_01:191252000 +xref: SNOMEDCT_US_2015_03_01:191253005 +xref: SNOMEDCT_US_2015_03_01:50715003 +xref: UMLS_CUI:C0034902 +is_a: DOID:12449 ! aplastic anemia + +[Term] +id: DOID:13401 +name: angioid streaks +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D000793 +xref: OMIM:607140 +xref: UMLS_CUI:C0002982 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:13402 +name: skin sarcoidosis +synonym: "Cutaneous sarcoid" EXACT [SNOMEDCT_2005_07_31:187234008] +synonym: "Cutaneous Sarcoidosis" EXACT [NCI2004_11_17:C34996] +synonym: "Cutaneous sarcoidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:55941000] +xref: ICD10CM:D86.3 +xref: NCI:C34996 +xref: SNOMEDCT_US_2015_03_01:187234008 +xref: SNOMEDCT_US_2015_03_01:55941000 +xref: UMLS_CUI:C0036203 +is_a: DOID:11335 ! sarcoidosis +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:13403 +name: cerebral sarcoidosis +synonym: "Cerebral Sarcoidosis" EXACT [NCI2004_11_17:C35441] +synonym: "Cerebral sarcoidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:111936002] +xref: NCI:C35441 +xref: SNOMEDCT_US_2015_03_01:111936002 +xref: UMLS_CUI:C0398676 +is_a: DOID:11335 ! sarcoidosis + +[Term] +id: DOID:13404 +name: uveoparotid fever +synonym: "Heerfordt's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:4416007] +synonym: "Uveoparotid fever" EXACT [SNOMEDCT_2005_07_31:31541009] +synonym: "Uveoparotid fever" EXACT [MTHICD9_2006:135] +xref: ICD10CM:D86.89 +xref: MSH:D014608 +xref: SNOMEDCT_US_2015_03_01:31541009 +xref: SNOMEDCT_US_2015_03_01:4416007 +xref: UMLS_CUI:C0042171 +is_a: DOID:11335 ! sarcoidosis + +[Term] +id: DOID:13405 +name: cardiac sarcoidosis +synonym: "Cardiac sarcoidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:75403004] +xref: NCI:C35589 +xref: SNOMEDCT_US_2015_03_01:75403004 +xref: UMLS_CUI:C0392077 +is_a: DOID:11335 ! sarcoidosis + +[Term] +id: DOID:13406 +name: pulmonary sarcoidosis +synonym: "lung Sarcoidosis" EXACT [NCI2004_11_17:C34997] +xref: ICD10CM:D86.0 +xref: MSH:D017565 +xref: NCI:C34997 +xref: SNOMEDCT_US_2015_03_01:187230004 +xref: SNOMEDCT_US_2015_03_01:24369008 +xref: UMLS_CUI:C0036205 +is_a: DOID:11335 ! sarcoidosis +is_a: DOID:3082 ! interstitial lung disease + +[Term] +id: DOID:13407 +name: hypercalcemic sarcoidosis +xref: NCI:C35807 +xref: UMLS_CUI:C1334067 +is_a: DOID:11335 ! sarcoidosis + +[Term] +id: DOID:13408 +name: metastasis to pleura +synonym: "metastatic tumor to the Pleura" EXACT [NCI2004_11_17:C3579] +synonym: "secondary malignant neoplasm of pleura" EXACT [ICD9CM_2006:197.2] +synonym: "secondary malignant neoplasm of pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:94493005] +is_obsolete: true + +[Term] +id: DOID:13409 +name: perforation of bile duct +synonym: "Perforation of bile duct (disorder)" EXACT [SNOMEDCT_2005_07_31:37439003] +xref: ICD10CM:K83.2 +xref: ICD9CM:576.3 +xref: NCI:C78528 +xref: SNOMEDCT_US_2015_03_01:37439003 +xref: UMLS_CUI:C0156218 +is_a: DOID:9741 ! biliary tract disease + +[Term] +id: DOID:1341 +name: congenital anemia +synonym: "Congenital anemia" EXACT [ICD9CM_2006:776.5] +synonym: "Congenital anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:63565007] +is_obsolete: true + +[Term] +id: DOID:13413 +name: hepatic encephalopathy +synonym: "Portal-systemic encephalopathy" EXACT [MTHICD9_2006:572.2] +xref: ICD10CM:K72 +xref: ICD9CM:572.2 +xref: MSH:D006501 +xref: NCI:C79596 +xref: SNOMEDCT_US_2015_03_01:123049003 +xref: SNOMEDCT_US_2015_03_01:13920009 +xref: SNOMEDCT_US_2015_03_01:197332007 +xref: SNOMEDCT_US_2015_03_01:449902003 +xref: UMLS_CUI:C0019151 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:13416 +name: diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder +synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder" EXACT [MTHICD9_2006:250.71] +synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder" EXACT [ICD9CM_2006:250.71] +is_obsolete: true + +[Term] +id: DOID:13417 +name: alexia +alt_id: DOID:4427 +def: "An agnosia that is a loss of the ability to recognize text." [url:http\://en.wikipedia.org/wiki/Agnosia, url:http\://en.wikipedia.org/wiki/Alexia_%28disorder%29] +synonym: "acquired dyslexia" EXACT [] +synonym: "Aphemesthaesia" EXACT [SNOMEDCT_2005_07_31:9236007] +xref: ICD9CM:315.01 +xref: MSH:D004410 +xref: MSH:D004411 +xref: SNOMEDCT_US_2015_03_01:158316004 +xref: SNOMEDCT_US_2015_03_01:206985003 +xref: SNOMEDCT_US_2015_03_01:9236007 +xref: UMLS_CUI:C0002018 +xref: UMLS_CUI:C0013388 +is_a: DOID:4090 ! agnosia + +[Term] +id: DOID:13419 +name: neurogenic bowel +xref: ICD9CM:564.81 +xref: MSH:D055496 +xref: SNOMEDCT_US_2015_03_01:425671009 +xref: UMLS_CUI:C0695242 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:1342 +name: congenital hypoplastic anemia +alt_id: DOID:13639 +synonym: "congenital aplastic anemia" EXACT [CSP2005:0427-0659] +synonym: "Constitutional aplastic anaemia" RELATED [SNOMEDCT_2005_07_31:154808006] +xref: ICD10CM:D61.0 +xref: ICD10CM:D61.01 +xref: ICD9CM:284.0 +xref: MSH:D029502 +xref: SNOMEDCT_US_2015_03_01:154808006 +xref: SNOMEDCT_US_2015_03_01:188588001 +xref: SNOMEDCT_US_2015_03_01:191235004 +xref: SNOMEDCT_US_2015_03_01:191236003 +xref: SNOMEDCT_US_2015_03_01:191242004 +xref: SNOMEDCT_US_2015_03_01:267523003 +xref: SNOMEDCT_US_2015_03_01:28975000 +xref: SNOMEDCT_US_2015_03_01:88854002 +xref: UMLS_CUI:C0702159 +xref: UMLS_CUI:C0949116 +is_a: DOID:12449 ! aplastic anemia + +[Term] +id: DOID:1343 +name: urethritis +alt_id: DOID:2863 +synonym: "Non-Gonococcal Urethritis" EXACT [NCI2004_11_17:C27079] +synonym: "Nongonococcal urethritis (disorder)" EXACT [SNOMEDCT_2005_07_31:84619001] +xref: ICD10CM:N34.2 +xref: ICD9CM:597.80 +xref: MSH:D014526 +xref: NCI:C26904 +xref: SNOMEDCT_US_2015_03_01:154388003 +xref: SNOMEDCT_US_2015_03_01:197905005 +xref: SNOMEDCT_US_2015_03_01:31822004 +xref: UMLS_CUI:C0041976 +xref: UMLS_CUI:C0311389 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:13431 +name: bejel +def: "A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face." [url:http\://en.wikipedia.org/wiki/Bejel, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190d.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Bejel (disorder)" EXACT [SNOMEDCT_2005_07_31:240686008] +synonym: "Njovera" EXACT [MTHICD9_2006:104.0] +synonym: "Njovera (disorder)" EXACT [SNOMEDCT_2005_07_31:240688009] +synonym: "Non-venereal endemic syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:271426000] +synonym: "Non-venereal endemic syphilis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:49487001] +synonym: "Nonvenereal endemic syphilis" EXACT [ICD9CM_2006:104.0] +synonym: "Nonvenereal endemic syphilis (& [Bejel] or [Njovera])" EXACT [SNOMEDCT_2005_07_31:186978001] +xref: MSH:D014211 +xref: SNOMEDCT_US_2015_03_01:186978001 +xref: SNOMEDCT_US_2015_03_01:240686008 +xref: UMLS_CUI:C0004945 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13444 +name: glanders +def: "A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Farcy pipes" EXACT [SNOMEDCT_2005_07_31:35322000] +synonym: "glanders (disorder)" EXACT [SNOMEDCT_2005_07_31:4639008] +synonym: "Infection due to Pseudomonas mallei" EXACT [MTHICD9_2006:024] +xref: ICD10CM:A24.0 +xref: ICD9CM:024 +xref: MSH:D005896 +xref: NCI:C34638 +xref: SNOMEDCT_US_2015_03_01:35322000 +xref: SNOMEDCT_US_2015_03_01:4639008 +xref: UMLS_CUI:C0017589 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13446 +name: basilar artery occlusion +xref: ICD10CM:I65.1 +xref: ICD9CM:433.0 +xref: SNOMEDCT_US_2015_03_01:155396001 +xref: SNOMEDCT_US_2015_03_01:195180004 +xref: SNOMEDCT_US_2015_03_01:78658006 +xref: UMLS_CUI:C0265098 +is_a: DOID:5976 ! occlusion precerebral artery + +[Term] +id: DOID:13447 +name: corneal argyrosis +synonym: "Argentous corneal deposits" EXACT [ICD9CM_2006:371.16] +synonym: "Argyrosis of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:193809002] +xref: ICD10CM:H18.02 +xref: ICD9CM:371.16 +xref: SNOMEDCT_US_2015_03_01:193809002 +xref: SNOMEDCT_US_2015_03_01:21328003 +xref: UMLS_CUI:C0155108 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:13448 +name: posterior corneal pigmentation +synonym: "Posterior corneal pigmentation (disorder)" EXACT [SNOMEDCT_2005_07_31:11293004] +synonym: "Posterior corneal pigmentation (disorder)" EXACT [SNOMEDCT_2005_07_31:267639001] +synonym: "Posterior corneal pigmentations" EXACT [ICD9CM_2006:371.13] +xref: ICD10CM:H18.05 +xref: ICD9CM:371.13 +xref: SNOMEDCT_US_2015_03_01:11293004 +xref: SNOMEDCT_US_2015_03_01:193807000 +xref: SNOMEDCT_US_2015_03_01:267639001 +xref: UMLS_CUI:C0155106 +is_a: DOID:11547 ! corneal deposit + +[Term] +id: DOID:13450 +name: coccidioidomycosis +alt_id: DOID:13981 +def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197e.html] +synonym: "primary extrapulmonary coccidioidomycosis" EXACT [] +synonym: "primary extrapulmonary coccidioidomycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:23247008] +xref: ICD10CM:B38 +xref: ICD10CM:B38.9 +xref: ICD9CM:114 +xref: ICD9CM:114.9 +xref: MSH:D003047 +xref: NCI:C84642 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:187025009 +xref: SNOMEDCT_US_2015_03_01:187035003 +xref: SNOMEDCT_US_2015_03_01:187481007 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:442543009 +xref: SNOMEDCT_US_2015_03_01:60826002 +xref: UMLS_CUI:C0009186 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:13452 +name: scleritis +synonym: "Scleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:78370002] +synonym: "Scleritis, unspecified" EXACT [ICD9CM_2006:379.00] +synonym: "Unspecified scleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:194140003] +xref: ICD10CM:H15.0 +xref: ICD10CM:H15.00 +xref: ICD9CM:379.00 +xref: MSH:D015423 +xref: SNOMEDCT_US_2015_03_01:155201000 +xref: SNOMEDCT_US_2015_03_01:194139000 +xref: SNOMEDCT_US_2015_03_01:194140003 +xref: SNOMEDCT_US_2015_03_01:78370002 +xref: UMLS_CUI:C0036416 +is_a: DOID:11343 ! scleral disease + +[Term] +id: DOID:13453 +name: gonococcal bursitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal bursitis (disorder)" EXACT [SNOMEDCT_2005_07_31:46699001] +xref: ICD10CM:A54.49 +xref: ICD9CM:098.52 +xref: SNOMEDCT_US_2015_03_01:186928003 +xref: SNOMEDCT_US_2015_03_01:46699001 +xref: UMLS_CUI:C0153218 +is_a: DOID:2965 ! bursitis + +[Term] +id: DOID:13454 +name: gonococcal synovitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal synovitis &/or tenosynovitis" EXACT [SNOMEDCT_2005_07_31:186927008] +synonym: "Gonococcal synovitis and tenosynovitis" EXACT [ICD9CM_2006:098.51] +synonym: "Gonococcal synovitis or tenosynovitis (disorder)" EXACT [SNOMEDCT_2005_07_31:266138002] +xref: ICD9CM:098.51 +xref: SNOMEDCT_US_2015_03_01:186927008 +xref: SNOMEDCT_US_2015_03_01:266138002 +xref: UMLS_CUI:C0343714 +is_a: DOID:2703 ! synovitis + +[Term] +id: DOID:13459 +name: secondary syphilitic hepatitis +alt_id: DOID:13458 +def: "A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions." [url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Hepatitis in secondary syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:197348008] +synonym: "secondary syphilis of liver" EXACT [] +synonym: "secondary syphilis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:80770009] +synonym: "secondary syphilitic hepatitis" EXACT [ICD9CM_2006:091.62] +synonym: "Syphilis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:86028001] +is_obsolete: true + +[Term] +id: DOID:13461 +name: urethral intrinsic sphincter deficiency +synonym: "Intrinsic (urethral) sphincter deficiency [ISD]" EXACT [ICD9CM_2006:599.82] +synonym: "Intrinsic sphincter deficiency" EXACT [MTHICD9_2006:599.82] +xref: ICD10CM:N36.42 +xref: ICD9CM:599.82 +xref: SNOMEDCT_US_2015_03_01:16031000119101 +xref: UMLS_CUI:C0375381 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:13468 +name: primary genital syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Genital syphilis" EXACT [MTHICD9_2006:091.0] +synonym: "Genital syphilis (primary)" EXACT [ICD9CM_2006:091.0] +synonym: "primary genital syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:186847001] +synonym: "primary genital syphilis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:58433006] +is_obsolete: true + +[Term] +id: DOID:13469 +name: secondary cutaneous syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilis of skin and mucous membrane (disorder)" EXACT [SNOMEDCT_2005_07_31:186850003] +synonym: "secondary syphilis of skin or mucous membranes" EXACT [ICD9CM_2006:091.3] +synonym: "secondary syphilis of skin or mucus membranes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186852006] +is_obsolete: true + +[Term] +id: DOID:13470 +name: primary anal syphilis +def: "A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum." [url:http\://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm, url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "primary anal syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:31015008] +is_obsolete: true + +[Term] +id: DOID:13471 +name: secondary syphilitic lymphadenitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Adenopathy due to secondary syphilis" EXACT [ICD9CM_2006:091.4] +synonym: "secondary syphilitic adenopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:59934002] +synonym: "secondary syphilitic lymphadenitis" EXACT [MTHICD9_2006:091.4] +is_obsolete: true + +[Term] +id: DOID:13473 +name: central pterygium +synonym: "central pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:43300008] +xref: ICD9CM:372.43 +xref: SNOMEDCT_US_2015_03_01:193882008 +xref: SNOMEDCT_US_2015_03_01:43300008 +xref: UMLS_CUI:C0155156 +is_a: DOID:13474 ! progressive peripheral pterygium + +[Term] +id: DOID:13474 +name: progressive peripheral pterygium +synonym: "peripheral pterygium, progressive (disorder)" EXACT [SNOMEDCT_2005_07_31:193881001] +synonym: "progressive peripheral pterygium (disorder)" EXACT [SNOMEDCT_2005_07_31:48480005] +xref: ICD9CM:372.42 +xref: SNOMEDCT_US_2015_03_01:193881001 +xref: SNOMEDCT_US_2015_03_01:48480005 +xref: UMLS_CUI:C0155155 +is_a: DOID:10526 ! conjunctival pterygium + +[Term] +id: DOID:13476 +name: supraglottis cancer +synonym: "Ca larynx - supraglottis" EXACT [SNOMEDCT_2005_07_31:154482003] +synonym: "Ca larynx - supraglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:269558005] +synonym: "malignant neoplasm of extrinsic larynx" EXACT [MTHICD9_2006:161.1] +synonym: "malignant neoplasm of supraglottis" EXACT [SNOMEDCT_2005_07_31:94080006] +synonym: "malignant neoplasm of supraglottis" EXACT [ICD9CM_2006:161.1] +synonym: "malignant Supraglottic tumor" EXACT [NCI2004_11_17:C3545] +synonym: "malignant tumor of supraglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:187842004] +synonym: "supraglottis" EXACT [NCI2004_11_17:C12279] +xref: ICD10CM:C32.1 +xref: ICD9CM:161.1 +xref: NCI:C3545 +xref: SNOMEDCT_US_2015_03_01:154482003 +xref: SNOMEDCT_US_2015_03_01:187842004 +xref: SNOMEDCT_US_2015_03_01:269558005 +xref: SNOMEDCT_US_2015_03_01:94080006 +xref: UMLS_CUI:C0153484 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:13477 +name: balanitis xerotica obliterans +synonym: "Balanitis xerotica obliterans (disorder)" EXACT [SNOMEDCT_2005_07_31:198033005] +synonym: "Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:43790000] +synonym: "Penile Lichen Sclerosus" EXACT [NCI2004_11_17:C3523] +xref: ICD9CM:607.81 +xref: NCI:C3523 +xref: SNOMEDCT_US_2015_03_01:198028006 +xref: SNOMEDCT_US_2015_03_01:198033005 +xref: SNOMEDCT_US_2015_03_01:367113004 +xref: SNOMEDCT_US_2015_03_01:43790000 +xref: SNOMEDCT_US_2015_03_01:700082001 +xref: UMLS_CUI:C0152460 +is_a: DOID:13033 ! balanitis + +[Term] +id: DOID:13480 +name: paranoid type schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:13481 +name: thanatophoric dysplasia +def: "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." [url:http\://emedicine.medscape.com/article/949591-overview, url:http\://en.wikipedia.org/wiki/Thanatophoric_dysplasia, url:http\://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +xref: ICD10CM:Q77.1 +xref: MSH:D013796 +xref: NCI:C85187 +xref: OMIM:187600 +xref: OMIM:187601 +xref: OMIM:273680 +xref: ORDO:1860 +xref: ORDO:2655 +xref: ORDO:93274 +xref: ORDO:93275 +xref: SNOMEDCT_US_2015_03_01:29352008 +xref: UMLS_CUI:C0039743 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:13482 +name: Proteus syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Wiedemann's syndrome" EXACT [] +xref: MSH:D016715 +xref: NCI:C85032 +xref: OMIM:176920 +xref: SNOMEDCT_US_2015_03_01:23150001 +xref: SNOMEDCT_US_2015_03_01:394527003 +xref: UMLS_CUI:C0085261 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:13484 +name: disorganized type schizophrenia chronic state +is_obsolete: true + +[Term] +id: DOID:13487 +name: childhood disintegrative disease +def: "A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress." [url:http\://en.wikipedia.org/wiki/Heller%27s_syndrome, url:http\://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm] +synonym: "Disintegrative psychosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191694008] +synonym: "Heller's syndrome" EXACT [] +synonym: "Symbiotic psychosis" EXACT [SNOMEDCT_2005_07_31:192584009] +xref: ICD10CM:F84.3 +xref: ICD9CM:299.1 +xref: NCI:C97164 +xref: SNOMEDCT_US_2015_03_01:191694008 +xref: SNOMEDCT_US_2015_03_01:192584009 +xref: SNOMEDCT_US_2015_03_01:71961003 +xref: UMLS_CUI:C0236791 +is_a: DOID:0060040 ! pervasive developmental disorder + +[Term] +id: DOID:13490 +name: active cochleovestibular Meniere's disease +synonym: "active cochleovestibular Meniere disease" EXACT [] +synonym: "active Meniere's disease, cochleovestibular" EXACT [ICD9CM_2006:386.01] +synonym: "Cochleovestibular active Mnire's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:8535002] +xref: ICD9CM:386.01 +xref: SNOMEDCT_US_2015_03_01:194348002 +xref: SNOMEDCT_US_2015_03_01:8535002 +xref: UMLS_CUI:C0155496 +is_a: DOID:9849 ! Meniere's disease + +[Term] +id: DOID:13491 +name: active vestibular Meniere's disease +synonym: "active Meniere's disease, vestibular" EXACT [ICD9CM_2006:386.03] +synonym: "active vestibular Meniere disease" EXACT [] +synonym: "Vestibular active Mnire's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:51003001] +xref: ICD9CM:386.03 +xref: SNOMEDCT_US_2015_03_01:194350005 +xref: SNOMEDCT_US_2015_03_01:51003001 +xref: UMLS_CUI:C0155498 +is_a: DOID:9849 ! Meniere's disease + +[Term] +id: DOID:13492 +name: active cochlear Meniere's disease +synonym: "active cochlear Meniere disease" EXACT [] +synonym: "active Meniere's disease, cochlear" EXACT [ICD9CM_2006:386.02] +synonym: "Cochlear active Mnire's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:21653008] +xref: ICD9CM:386.02 +xref: SNOMEDCT_US_2015_03_01:194349005 +xref: SNOMEDCT_US_2015_03_01:21653008 +xref: UMLS_CUI:C0155497 +is_a: DOID:9849 ! Meniere's disease + +[Term] +id: DOID:13498 +name: urethral syndrome +synonym: "urethral syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:31273004] +synonym: "urethral syndrome NOS" EXACT [SNOMEDCT_2005_07_31:155893003] +synonym: "urethral syndrome NOS" EXACT [ICD9CM_2006:597.81] +synonym: "urethral syndrome NOS" EXACT [SNOMEDCT_2005_07_31:266633007] +synonym: "urethral syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197906006] +xref: ICD10CM:N34.3 +xref: ICD9CM:597.81 +xref: SNOMEDCT_US_2015_03_01:155893003 +xref: SNOMEDCT_US_2015_03_01:197906006 +xref: SNOMEDCT_US_2015_03_01:266633007 +xref: SNOMEDCT_US_2015_03_01:31273004 +xref: UMLS_CUI:C0156279 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:13499 +name: jejunal cancer +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of jejunum" EXACT [ICD9CM_2006:152.1] +synonym: "malignant neoplasm of jejunum" EXACT [MTH:U001249] +synonym: "malignant neoplasm of jejunum" EXACT [SNOMEDCT_2005_07_31:93846004] +synonym: "malignant tumor of jejunum (disorder)" EXACT [SNOMEDCT_2005_07_31:363404008] +xref: ICD10CM:C17.1 +xref: ICD9CM:152.1 +xref: MSH:D007580 +xref: SNOMEDCT_US_2015_03_01:363404008 +xref: SNOMEDCT_US_2015_03_01:93846004 +xref: UMLS_CUI:C0153427 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:135 +name: benign vaginal carcinosarcoma +xref: NCI:C40275 +xref: UMLS_CUI:C1511106 +is_a: DOID:0060114 ! vaginal benign neoplasm + +[Term] +id: DOID:1350 +name: paranasal sinus neoplasm +synonym: "neoplasm of accessory sinus" EXACT [SNOMEDCT_2005_07_31:126675008] +synonym: "tumor of Accessory sinus" EXACT [NCI2004_11_17:C7488] +xref: MSH:D010255 +xref: NCI:C7488 +xref: SNOMEDCT_US_2015_03_01:126675008 +xref: UMLS_CUI:C0030470 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:13500 +name: hairy tongue +synonym: "Hairy Tongue" EXACT [NCI2004_11_17:C35075] +synonym: "Overgrowth of filiform papillae (disorder)" EXACT [SNOMEDCT_2005_07_31:255225007] +xref: MSH:D014064 +xref: NCI:C35075 +xref: SNOMEDCT_US_2015_03_01:255225007 +xref: SNOMEDCT_US_2015_03_01:81934005 +xref: UMLS_CUI:C0040414 +is_a: DOID:10944 ! tongue disease + +[Term] +id: DOID:13501 +name: Mobius syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Moebius congenital oculofacial paralysis" EXACT [SNOMEDCT_2005_07_31:393607001] +synonym: "Oromandibular-limb hypogenesis spectrum (disorder)" EXACT [SNOMEDCT_2005_07_31:89444000] +xref: ICD10CM:Q87.0 +xref: MSH:D020331 +xref: NCI:C84893 +xref: OMIM:157900 +xref: SNOMEDCT_US_2015_03_01:393607001 +xref: SNOMEDCT_US_2015_03_01:89444000 +xref: UMLS_CUI:C0221060 +is_a: DOID:1756 ! facial nerve disease + +[Term] +id: DOID:13507 +name: trigonitis +synonym: "Trigonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:74445007] +synonym: "Trigonitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:266562000] +synonym: "Trigonitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197844001] +xref: ICD10CM:N30.3 +xref: ICD9CM:595.3 +xref: SNOMEDCT_US_2015_03_01:155885003 +xref: SNOMEDCT_US_2015_03_01:197843007 +xref: SNOMEDCT_US_2015_03_01:197844001 +xref: SNOMEDCT_US_2015_03_01:266562000 +xref: SNOMEDCT_US_2015_03_01:266629000 +xref: SNOMEDCT_US_2015_03_01:74445007 +xref: UMLS_CUI:C1261278 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:13514 +name: venous tributary occlusion of retina +synonym: "Venous tributary (branch) occlusion of retina" EXACT [ICD9CM_2006:362.36] +synonym: "Venous tributary branch occlusion of retina" EXACT [MTHICD9_2006:362.36] +xref: ICD9CM:362.36 +xref: UMLS_CUI:C0154842 +is_a: DOID:1729 ! retinal vascular occlusion + +[Term] +id: DOID:13515 +name: tuberous sclerosis +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Bourneville's disease" EXACT [NCI2004_11_17:C3424] +synonym: "cerebral sclerosis" EXACT [CSP2005:0727-2535] +synonym: "Epiloia" EXACT [MTHICD9_2006:759.5] +synonym: "Tuberose sclerosis" EXACT [SNOMEDCT_2005_07_31:157033002] +synonym: "Tuberose sclerosis" EXACT [SNOMEDCT_2005_07_31:268359006] +synonym: "Tuberous sclerosis" EXACT [ICD9CM_2006:759.5] +synonym: "Tuberous sclerosis" EXACT [SNOMEDCT_2005_07_31:157027006] +synonym: "Tuberous sclerosis syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:7199000] +xref: ICD10CM:Q85.1 +xref: ICD9CM:759.5 +xref: MSH:D014402 +xref: NCI:C3424 +xref: OMIM:191100 +xref: OMIM:613254 +xref: SNOMEDCT_US_2015_03_01:157027006 +xref: SNOMEDCT_US_2015_03_01:157033002 +xref: SNOMEDCT_US_2015_03_01:268359006 +xref: SNOMEDCT_US_2015_03_01:7199000 +xref: UMLS_CUI:C0041341 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:13518 +name: stiffness of joint +alt_id: DOID:13885 +alt_id: DOID:14206 +alt_id: DOID:14207 +alt_id: DOID:14208 +alt_id: DOID:14209 +alt_id: DOID:14211 +alt_id: DOID:14212 +synonym: "Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving forearm in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving forearm in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving hand in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving hand in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving lower leg in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving lower leg in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving multiple sites in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving shoulder region in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, NEC, involving upper arm in ICD9CM_2005" EXACT [] +synonym: "Stiffness of joint, NEC, involving upper arm in ICD9CM_2006" EXACT [MTH:NOCODE] +synonym: "Stiffness of joint, not elsewhere classified, involving ankle and foot" EXACT [ICD9CM_2006:719.57] +synonym: "Stiffness of joint, not elsewhere classified, involving forearm" EXACT [ICD9CM_2006:719.53] +synonym: "Stiffness of joint, not elsewhere classified, involving hand" EXACT [ICD9CM_2006:719.54] +synonym: "Stiffness of joint, not elsewhere classified, involving lower leg" EXACT [ICD9CM_2006:719.56] +synonym: "Stiffness of joint, not elsewhere classified, involving multiple sites" EXACT [ICD9CM_2006:719.59] +synonym: "Stiffness of joint, not elsewhere classified, involving pelvic region and thigh" EXACT [ICD9CM_2006:719.55] +synonym: "Stiffness of joint, not elsewhere classified, involving shoulder region" EXACT [ICD9CM_2006:719.51] +synonym: "Stiffness of joint, not elsewhere classified, involving upper arm" EXACT [ICD9CM_2006:719.52] +is_obsolete: true + +[Term] +id: DOID:1352 +name: paranasal sinus disease +synonym: "disorder of nasal sinus" EXACT [SNOMEDCT_2005_07_31:7393007] +synonym: "paranasal sinus disorder" EXACT [NCI2004_11_17:C26843] +xref: MSH:D010254 +xref: NCI:C26843 +xref: SNOMEDCT_US_2015_03_01:195823002 +xref: SNOMEDCT_US_2015_03_01:7393007 +xref: UMLS_CUI:C0030469 +is_a: DOID:2825 ! nose disease + +[Term] +id: DOID:13520 +name: neonatal infective mastitis +synonym: "Neonatal infective mastitis (disorder)" EXACT [SNOMEDCT_2005_07_31:3468005] +xref: ICD10CM:P39.0 +xref: ICD9CM:771.5 +xref: SNOMEDCT_US_2015_03_01:3468005 +xref: UMLS_CUI:C0158948 +is_a: DOID:10690 ! mastitis + +[Term] +id: DOID:13521 +name: tetanus neonatorum +def: "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion." [url:http\://www.doh.gov.za/programmes/polio/nnt.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "neonatal tetanus" EXACT [] +synonym: "Tetanus neonatorum (disorder)" EXACT [SNOMEDCT_2005_07_31:43424001] +xref: ICD10CM:A33 +xref: ICD9CM:771.3 +xref: SNOMEDCT_US_2015_03_01:206338004 +xref: SNOMEDCT_US_2015_03_01:206339007 +xref: SNOMEDCT_US_2015_03_01:43424001 +xref: UMLS_CUI:C0343312 +is_a: DOID:11338 ! tetanus + +[Term] +id: DOID:13523 +name: loiasis +def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." [url:http\://en.wikipedia.org/wiki/Loiasis] +xref: ICD10CM:B74.3 +xref: ICD9CM:125.2 +xref: MSH:D008118 +xref: NCI:C34784 +xref: SNOMEDCT_US_2015_03_01:44250009 +xref: UMLS_CUI:C0023968 +is_a: DOID:1080 ! filariasis +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:13526 +name: candidal endocarditis +def: "A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] +synonym: "Candidal endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:63553008] +is_obsolete: true + +[Term] +id: DOID:13527 +name: candidal otitis externa +def: "A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis." [url:http\://en.wikipedia.org/wiki/Moniliasis, url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www.aafp.org/afp/2001/0301/p927.html, url:http\://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641] +synonym: "Candidal otitis externa (disorder)" EXACT [SNOMEDCT_2005_07_31:16681000] +synonym: "Candidal: [otitis externa] or [otomycosis]" EXACT [SNOMEDCT_2005_07_31:187021000] +synonym: "otomycosis in moniliasis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:13528 +name: candidal enteritis +def: "A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration." [url:http\://emedicine.medscape.com/article/213853-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html] +synonym: "gastrointestinal candidiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:84679006] +synonym: "intestinal moniliasis" EXACT [SNOMEDCT_2005_07_31:187023002] +is_obsolete: true + +[Term] +id: DOID:13533 +name: osteopetrosis +def: "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones." [url:http\://emedicine.medscape.com/article/123968-overview, url:http\://en.wikipedia.org/wiki/Osteopetrosis] +comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "Albers-Schonberg disease" EXACT [] +synonym: "marble bone" EXACT [CSP2005:1849-7232] +xref: ICD10CM:Q78.2 +xref: ICD9CM:756.52 +xref: MSH:D010022 +xref: NCI:C26840 +xref: OMIM:166600 +xref: OMIM:259700 +xref: OMIM:259710 +xref: OMIM:259720 +xref: OMIM:259730 +xref: OMIM:607634 +xref: OMIM:611490 +xref: OMIM:611497 +xref: OMIM:612301 +xref: OMIM:615085 +xref: ORDO:667 +xref: SNOMEDCT_US_2015_03_01:1926006 +xref: SNOMEDCT_US_2015_03_01:205500005 +xref: SNOMEDCT_US_2015_03_01:205502002 +xref: SNOMEDCT_US_2015_03_01:360504006 +xref: SNOMEDCT_US_2015_03_01:367489004 +xref: SNOMEDCT_US_2015_03_01:63941000 +xref: UMLS_CUI:C0029454 +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:13534 +name: purulent labyrinthitis +def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." [url:http\://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh] +synonym: "acute suppurative labyrinthitis" RELATED [] +synonym: "bacterial labyrinthitis" EXACT [] +synonym: "Suppurative labyrinthitis" EXACT [ICD9CM_2006:386.33] +synonym: "Suppurative labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:24817009] +xref: ICD9CM:386.33 +xref: SNOMEDCT_US_2015_03_01:24817009 +xref: UMLS_CUI:C0155506 +is_a: DOID:1468 ! labyrinthitis + +[Term] +id: DOID:13535 +name: intrapelvic lymph node mast cell malignancy +synonym: "malignant mast cell tumors involving intrapelvic lymph nodes" EXACT [ICD9CM_2006:202.66] +synonym: "Mast cell malignancy of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188667001] +is_obsolete: true + +[Term] +id: DOID:13538 +name: cornea squamous cell carcinoma +synonym: "Corneal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4552] +synonym: "squamous cell carcinoma of cornea" RELATED [] +synonym: "squamous cell carcinoma of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:255008003] +xref: NCI:C4552 +xref: SNOMEDCT_US_2015_03_01:255008003 +xref: UMLS_CUI:C0346366 +is_a: DOID:6199 ! cornea cancer + +[Term] +id: DOID:13543 +name: hyperparathyroidism +def: "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body." [url:http\://en.wikipedia.org/wiki/Hyperparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hyperparathyroidism] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:E21.3 +xref: ICD9CM:252.0 +xref: ICD9CM:252.00 +xref: MSH:D006961 +xref: NCI:C48259 +xref: OMIM:145000 +xref: OMIM:145001 +xref: OMIM:610071 +xref: ORDO:99879 +xref: SNOMEDCT_US_2015_03_01:154696001 +xref: SNOMEDCT_US_2015_03_01:190451000 +xref: SNOMEDCT_US_2015_03_01:66999008 +xref: UMLS_CUI:C0020502 +is_a: DOID:11201 ! parathyroid gland disease + +[Term] +id: DOID:13544 +name: low tension glaucoma +synonym: "Normal tension glaucoma" EXACT [SNOMEDCT_2005_07_31:50485007] +xref: ICD10CM:H40.12 +xref: ICD9CM:365.12 +xref: MSH:D057066 +xref: SNOMEDCT_US_2015_03_01:155124000 +xref: SNOMEDCT_US_2015_03_01:193567005 +xref: SNOMEDCT_US_2015_03_01:50485007 +xref: UMLS_CUI:C0152136 +is_a: DOID:1067 ! open-angle glaucoma + +[Term] +id: DOID:13548 +name: secondary Parkinson disease +synonym: "disorder presenting primarily with parkinsonism" EXACT [SNOMEDCT_2005_07_31:32798002] +synonym: "secondary Parkinsonism" EXACT [NCI2004_11_17:C34899] +synonym: "secondary Parkinsonism" EXACT [ICD9CM_2006:332.1] +synonym: "secondary parkinsonism (disorder)" EXACT [SNOMEDCT_2005_07_31:230292008] +synonym: "secondary parkinsonism (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:50364008] +synonym: "secondary parkinsonism, unspecified" EXACT [SNOMEDCT_2005_07_31:192830002] +synonym: "secondary parkinsonism, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:194477000] +synonym: "Symptomatic parkinsonism (disorder)" EXACT [SNOMEDCT_2005_07_31:265377002] +xref: ICD10CM:G21 +xref: ICD10CM:G21.9 +xref: ICD9CM:332.1 +xref: MSH:D010302 +xref: NCI:C34899 +xref: SNOMEDCT_US_2015_03_01:192830002 +xref: SNOMEDCT_US_2015_03_01:194477000 +xref: SNOMEDCT_US_2015_03_01:230292008 +xref: SNOMEDCT_US_2015_03_01:265377002 +xref: SNOMEDCT_US_2015_03_01:32798002 +xref: SNOMEDCT_US_2015_03_01:50364008 +xref: UMLS_CUI:C0030569 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:13549 +name: interval angle-closure glaucoma +synonym: "Angle-closure glaucoma, subacute" EXACT [MTHICD9_2006:365.21] +synonym: "Intermittent angle-closure glaucoma" EXACT [ICD9CM_2006:365.21] +synonym: "Prodromal angle closure glaucoma" EXACT [SNOMEDCT_2005_07_31:65460003] +xref: ICD10CM:H40.23 +xref: ICD9CM:365.21 +xref: SNOMEDCT_US_2015_03_01:65460003 +xref: UMLS_CUI:C0154945 +is_a: DOID:1405 ! primary angle-closure glaucoma + +[Term] +id: DOID:1355 +name: paranasal sinus lymphoma +synonym: "Lymphoma of Accessory sinus" EXACT [NCI2004_11_17:C6068] +synonym: "lymphoma of paranasal sinus" EXACT [] +xref: NCI:C6068 +xref: UMLS_CUI:C1335339 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:13550 +name: angle-closure glaucoma +synonym: "ACG - Angle-closure glaucoma" EXACT [SNOMEDCT_2005_07_31:270882001] +synonym: "Angle Closure Glaucoma" EXACT [MTH:NOCODE] +synonym: "Angle Closure Glaucoma" EXACT [NCI2004_11_17:C34639] +synonym: "Angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:392291006] +synonym: "Closed angle glaucoma" EXACT [SNOMEDCT_2005_07_31:193544008] +synonym: "Narrow cleft glaucoma" EXACT [SNOMEDCT_2005_07_31:33647009] +synonym: "primary open-angle glaucoma with narrow angles" EXACT [SNOMEDCT_2005_07_31:314542007] +xref: MSH:D015812 +xref: NCI:C34639 +xref: SNOMEDCT_US_2015_03_01:193544008 +xref: SNOMEDCT_US_2015_03_01:270882001 +xref: SNOMEDCT_US_2015_03_01:33647009 +xref: SNOMEDCT_US_2015_03_01:392291006 +xref: UMLS_CUI:C0017605 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:13554 +name: gonococcal peritonitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:13555 +name: pharyngeal gonorrhea +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal infection of pharynx" EXACT [ICD9CM_2006:098.6] +synonym: "gonococcal pharyngitis" EXACT [] +synonym: "Gonorrhea of pharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:74372003] +is_obsolete: true + +[Term] +id: DOID:13556 +name: gonococcal keratosis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal blennorrhagica" EXACT [MTHICD9_2006:098.81] +synonym: "Gonococcal keratosis (blennorrhagica)" EXACT [ICD9CM_2006:098.81] +synonym: "Gonococcal keratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:60335002] +is_obsolete: true + +[Term] +id: DOID:13558 +name: gonococcal urethritis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal Urethritis" EXACT [NCI2004_11_17:C26787] +synonym: "Gonococcal urethritis (disorder)" EXACT [SNOMEDCT_2005_07_31:236682002] +is_obsolete: true + +[Term] +id: DOID:1356 +name: lymphoma by site +is_obsolete: true + +[Term] +id: DOID:13560 +name: subserous uterine fibroid +synonym: "Subserous leiomyoma of uterus" EXACT [ICD9CM_2006:218.2] +synonym: "Subserous leiomyoma of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:95280005] +xref: ICD10CM:D25.2 +xref: ICD9CM:218.2 +xref: SNOMEDCT_US_2015_03_01:95280005 +xref: UMLS_CUI:C0153995 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13561 +name: optic disk drusen +synonym: "Drusen of optic disc" EXACT [ICD9CM_2006:377.21] +synonym: "optic nerve head drusen" EXACT [SNOMEDCT_2005_07_31:33629003] +xref: ICD10CM:H47.32 +xref: ICD9CM:377.21 +xref: MSH:D015594 +xref: SNOMEDCT_US_2015_03_01:33629003 +xref: UMLS_CUI:C0029128 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:13562 +name: glaucoma associated with pupillary block +synonym: "Glaucoma associated with pupillary block (disorder)" EXACT [SNOMEDCT_2005_07_31:43445008] +synonym: "secondary angle-closure glaucoma with pupil block" EXACT [SNOMEDCT_2005_07_31:193561006] +is_obsolete: true + +[Term] +id: DOID:13564 +name: aspergillosis +def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." [url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/, url:http\://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all] +synonym: "Infection due to Aspergillus" EXACT [SNOMEDCT_2005_07_31:65553006] +xref: CSP:1988-4002 +xref: ICD10CM:B44 +xref: ICD10CM:B44.9 +xref: ICD9CM:117.3 +xref: MSH:D001228 +xref: NCI:C2886 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:187087004 +xref: SNOMEDCT_US_2015_03_01:187492008 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:65553006 +xref: UMLS_CUI:C0004030 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:13565 +name: neuroaspergillosis +def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17377359, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis] +xref: MSH:D020953 +xref: UMLS_CUI:C0752342 +is_a: DOID:13564 ! aspergillosis + +[Term] +id: DOID:13566 +name: tibial collateral ligament bursitis +synonym: "Tibial collateral ligament bursitis (disorder)" EXACT [SNOMEDCT_2005_07_31:44245003] +xref: ICD9CM:726.62 +xref: SNOMEDCT_US_2015_03_01:202869006 +xref: SNOMEDCT_US_2015_03_01:44245003 +xref: UMLS_CUI:C0158315 +is_a: DOID:204 ! enthesopathy + +[Term] +id: DOID:1357 +name: maxillary sinus cancer +alt_id: DOID:2372 +synonym: "malignant neoplasm of antrum" EXACT [MTHICD9_2006:160.2] +synonym: "malignant tumor of the maxillary sinus" EXACT [NCI2004_11_17:C3540] +xref: ICD10CM:C31.0 +xref: ICD9CM:160.2 +xref: NCI:C3540 +xref: NCI:C9332 +xref: SNOMEDCT_US_2015_03_01:363425008 +xref: SNOMEDCT_US_2015_03_01:93889000 +xref: UMLS_CUI:C0153476 +xref: UMLS_CUI:C0740487 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:13573 +name: schizo-affective type schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:13574 +name: cortical senile cataract +synonym: "Cortical senile cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:78875003] +xref: ICD9CM:366.15 +xref: SNOMEDCT_US_2015_03_01:193588001 +xref: SNOMEDCT_US_2015_03_01:78875003 +xref: UMLS_CUI:C0154980 +is_a: DOID:9669 ! senile cataract + +[Term] +id: DOID:13575 +name: non-renal secondary hyperparathyroidism +xref: ICD9CM:252.02 +xref: UMLS_CUI:C1456268 +is_a: DOID:13543 ! hyperparathyroidism + +[Term] +id: DOID:13576 +name: twin-to-twin transfusion syndrome +synonym: "Fetal blood loss from fetal hemorrhage into co-twin" EXACT [MTHICD9_2006:772.0] +synonym: "Fetal hemorrhage into co-twin (disorder)" EXACT [SNOMEDCT_2005_07_31:56268004] +synonym: "Twin to twin transfusion" EXACT [SNOMEDCT_2005_07_31:237299001] +synonym: "Twin-to-twin blood transfer (disorder)" EXACT [SNOMEDCT_2005_07_31:13404009] +xref: ICD10CM:O43.02 +xref: ICD10CM:O43.029 +xref: MSH:D005330 +xref: NCI:C113824 +xref: SNOMEDCT_US_2015_03_01:13404009 +xref: SNOMEDCT_US_2015_03_01:237299001 +xref: UMLS_CUI:C2909036 +is_a: DOID:11244 ! neonatal anemia + +[Term] +id: DOID:13577 +name: ascorbic acid deficiency +synonym: "Ascorbic acid (vitamin C) deficiency" EXACT [SNOMEDCT_2005_07_31:190638001] +synonym: "Ascorbic acid defic." EXACT [SNOMEDCT_2005_07_31:154727008] +synonym: "Ascorbic acid defic." EXACT [SNOMEDCT_2005_07_31:267493006] +synonym: "Ascorbic acid deficiency" EXACT [ICD9CM_2006:267] +synonym: "Ascorbic acid deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:76169001] +synonym: "deficiency of ascorbic acid (disorder)" EXACT [SNOMEDCT_2005_07_31:124907004] +synonym: "deficiency of vitamin C" EXACT [MTHICD9_2006:267] +synonym: "vitamin C deficiency" EXACT [CSP2005:2116-7533] +is_obsolete: true + +[Term] +id: DOID:13579 +name: kwashiorkor +synonym: "Kwashiokor" EXACT [SNOMEDCT_2005_07_31:267495004] +synonym: "Kwashiokor" EXACT [SNOMEDCT_2005_07_31:154730001] +synonym: "Nutritional edema with dyspigmentation of skin and hair" EXACT [MTHICD9_2006:260] +synonym: "Nutritional oedema with dyspigmentation of skin and/or hair" EXACT [SNOMEDCT_2005_07_31:58262005] +xref: ICD10CM:E40 +xref: ICD9CM:260 +xref: MSH:D007732 +xref: SNOMEDCT_US_2015_03_01:154730001 +xref: SNOMEDCT_US_2015_03_01:267495004 +xref: SNOMEDCT_US_2015_03_01:58262005 +xref: UMLS_CUI:C0022806 +is_a: DOID:11801 ! protein-energy malnutrition + +[Term] +id: DOID:1358 +name: maxillary sinus neoplasm +synonym: "neoplasm of maxillary sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:126676009] +synonym: "tumor of Maxillofacial sinus" EXACT [NCI2004_11_17:C3219] +xref: MSH:D008444 +xref: NCI:C3219 +xref: SNOMEDCT_US_2015_03_01:126676009 +xref: UMLS_CUI:C0024958 +is_a: DOID:1350 ! paranasal sinus neoplasm + +[Term] +id: DOID:13580 +name: cholestasis +synonym: "bile occlusion" EXACT [CSP2005:0413-4023] +synonym: "Obstruction of bile duct" EXACT [ICD9CM_2006:576.2] +xref: ICD10CM:K83.1 +xref: ICD9CM:576.2 +xref: MSH:D002779 +xref: NCI:C83006 +xref: SNOMEDCT_US_2015_03_01:197446008 +xref: SNOMEDCT_US_2015_03_01:197447004 +xref: SNOMEDCT_US_2015_03_01:30144000 +xref: SNOMEDCT_US_2015_03_01:33688009 +xref: UMLS_CUI:C0008370 +is_a: DOID:4138 ! bile duct disease + +[Term] +id: DOID:13581 +name: magnesium deficiency +synonym: "Magnesium deficiency" EXACT [SNOMEDCT_2005_07_31:190664007] +synonym: "magnesium deficiency" EXACT [CSP2005:1851-4452] +synonym: "Magnesium deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:238118002] +is_obsolete: true + +[Term] +id: DOID:13582 +name: potassium deficiency +synonym: "K deficiency" EXACT [MTHICD9_2006:276.8] +synonym: "potassium deficiency" EXACT [CSP2005:1851-4491] +is_obsolete: true + +[Term] +id: DOID:13583 +name: fetal nutrition disorder +synonym: "disorder of fetal nutrition (disorder)" EXACT [SNOMEDCT_2005_07_31:363089008] +is_obsolete: true + +[Term] +id: DOID:13585 +name: alveolar periostitis +synonym: "Alveolar periostitis (disorder)" EXACT [SNOMEDCT_2005_07_31:251331003] +synonym: "Alveolitis of jaw" EXACT [ICD9CM_2006:526.5] +synonym: "Alveolitis of jaw (disorder)" EXACT [SNOMEDCT_2005_07_31:61804006] +synonym: "Alveolitis of jaw NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196467004] +synonym: "Dry socket" EXACT [MTHICD9_2006:526.5] +synonym: "Dry tooth socket" EXACT [SNOMEDCT_2005_07_31:196466008] +synonym: "Dry tooth socket" EXACT [SNOMEDCT_2005_07_31:196465007] +xref: ICD10CM:M27.3 +xref: ICD9CM:526.5 +xref: MSH:D004368 +xref: SNOMEDCT_US_2015_03_01:12033006 +xref: SNOMEDCT_US_2015_03_01:196465007 +xref: SNOMEDCT_US_2015_03_01:196466008 +xref: SNOMEDCT_US_2015_03_01:196467004 +xref: SNOMEDCT_US_2015_03_01:251331003 +xref: SNOMEDCT_US_2015_03_01:61804006 +xref: UMLS_CUI:C0013240 +is_a: DOID:9957 ! periostitis + +[Term] +id: DOID:13589 +name: female infertility of uterine origin +synonym: "female infertility of uterine origin (disorder)" EXACT [SNOMEDCT_2005_07_31:26899006] +synonym: "female infertility of uterine origin NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198458005] +synonym: "Infertility, female, of uterine origin" EXACT [ICD9CM_2006:628.3] +xref: ICD10CM:N97.2 +xref: ICD9CM:628.3 +xref: SNOMEDCT_US_2015_03_01:156063002 +xref: SNOMEDCT_US_2015_03_01:198458005 +xref: SNOMEDCT_US_2015_03_01:26899006 +xref: UMLS_CUI:C0156416 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:13593 +name: eclampsia +alt_id: DOID:13592 +def: "A pre-eclampsia characterized by the presence of seizures." [PMID:24400024, url:http\://ghr.nlm.nih.gov/condition/preeclampsia] +synonym: "Eclampsia in puerperium (disorder)" EXACT [SNOMEDCT_2005_07_31:303063000] +synonym: "Eclampsia, postpartum" EXACT [ICD9CM_2006:642.64] +synonym: "Postpartum eclampsia" EXACT [] +xref: ICD10CM:O15 +xref: ICD10CM:O15.9 +xref: MSH:D004461 +xref: NCI:C87167 +xref: SNOMEDCT_US_2015_03_01:156111007 +xref: SNOMEDCT_US_2015_03_01:15938005 +xref: SNOMEDCT_US_2015_03_01:198988006 +xref: SNOMEDCT_US_2015_03_01:198989003 +xref: SNOMEDCT_US_2015_03_01:198996001 +xref: UMLS_CUI:C0013537 +is_a: DOID:10591 ! pre-eclampsia + +[Term] +id: DOID:136 +name: vaginal carcinosarcoma +alt_id: DOID:1904 +alt_id: DOID:6172 +synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [] +synonym: "vaginal malignant mixed mesodermal (mullerian) tumor" EXACT [] +synonym: "vaginal malignant mixed Mullerian tumor" EXACT [] +synonym: "vaginal mixed epithelial and mesenchymal tumor" EXACT [] +xref: NCI:C40274 +xref: NCI:C40276 +xref: NCI:C40278 +xref: UMLS_CUI:C1512974 +xref: UMLS_CUI:C1519918 +xref: UMLS_CUI:C1519924 +is_a: DOID:0050918 ! vaginal carcinoma + +[Term] +id: DOID:1360 +name: frontal sinus cancer +synonym: "malignant neoplasm of frontal sinus" EXACT [MTH:U001261] +synonym: "malignant neoplasm of frontal sinus" EXACT [ICD9CM_2006:160.4] +synonym: "malignant neoplasm of frontal sinus" EXACT [SNOMEDCT_2005_07_31:93808006] +synonym: "malignant tumor of frontal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:363427000] +synonym: "malignant tumor of the Frontal sinus" EXACT [NCI2004_11_17:C3542] +xref: ICD10CM:C31.2 +xref: ICD9CM:160.4 +xref: NCI:C3542 +xref: SNOMEDCT_US_2015_03_01:363427000 +xref: SNOMEDCT_US_2015_03_01:93808006 +xref: UMLS_CUI:C0153478 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:13601 +name: enteropathogenic Escherichia coli infectious disease +def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Enteropathogenic Escherichia coli gastrointestinal tract infection" EXACT [SNOMEDCT_2005_07_31:186130000] +synonym: "Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240353001] +synonym: "intestinal infection due to enteropathogenic E. coli" EXACT [ICD9CM_2006:008.01] +is_obsolete: true + +[Term] +id: DOID:13602 +name: acute schizophrenic episode subchronic state +is_obsolete: true + +[Term] +id: DOID:13603 +name: obstructive jaundice +synonym: "Cholestatic Jaundice" EXACT [NCI2004_11_17:C34742] +synonym: "Cholestatic jaundice syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:44018007] +synonym: "Obstructive hyperbilirubinemia" EXACT [MTH:U000257] +synonym: "Obstructive hyperbilirubinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:59848001] +synonym: "Obstructive jaundice NOS" EXACT [SNOMEDCT_2005_07_31:155832005] +synonym: "Obstructive jaundice NOS" EXACT [SNOMEDCT_2005_07_31:266545005] +synonym: "Obstructive jaundice NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197452009] +xref: MSH:D041781 +xref: NCI:C34742 +xref: SNOMEDCT_US_2015_03_01:155832005 +xref: SNOMEDCT_US_2015_03_01:197452009 +xref: SNOMEDCT_US_2015_03_01:266545005 +xref: SNOMEDCT_US_2015_03_01:44018007 +xref: SNOMEDCT_US_2015_03_01:59848001 +xref: UMLS_CUI:C0022354 +is_a: DOID:13580 ! cholestasis + +[Term] +id: DOID:13604 +name: acute schizophrenic episode chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:13605 +name: acute schizophrenic episode chronic state +is_obsolete: true + +[Term] +id: DOID:13608 +name: biliary atresia +def: "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder." [url:http\://en.wikipedia.org/wiki/Biliary_atresia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000215.htm] +synonym: "Atresia of bile duct" EXACT [SNOMEDCT_2005_07_31:204779004] +synonym: "biliary atresia, congenital" EXACT [ICD9CM_2006:751.61] +synonym: "Congenital biliary atresia (disorder)" EXACT [SNOMEDCT_2005_07_31:77480004] +xref: EFOpat_id:8781 +xref: ICD10CM:Q44.2 +xref: ICD9CM:751.61 +xref: MSH:D001656 +xref: NCI:C34421 +xref: NCI:C97069 +xref: ORDO:30391 +xref: SNOMEDCT_US_2015_03_01:204779004 +xref: SNOMEDCT_US_2015_03_01:204783004 +xref: SNOMEDCT_US_2015_03_01:77480004 +xref: SNOMEDCT_US_2015_03_01:82821008 +xref: UMLS_CUI:C0005411 +is_a: DOID:13580 ! cholestasis + +[Term] +id: DOID:1361 +name: frontal sinus neoplasm +synonym: "neoplasm of frontal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:126678005] +synonym: "tumor of the Frontal sinus" EXACT [NCI2004_11_17:C4419] +xref: NCI:C4419 +xref: SNOMEDCT_US_2015_03_01:126678005 +xref: UMLS_CUI:C0345672 +is_a: DOID:1350 ! paranasal sinus neoplasm + +[Term] +id: DOID:13619 +name: extrahepatic cholestasis +synonym: "extrahepatic biliary Stasis" EXACT [NCI2004_11_17:C34420] +synonym: "extrahepatic cholestasis (finding)" EXACT [SNOMEDCT_2005_07_31:20719006] +synonym: "extrahepatic obstructive biliary disease (disorder)" EXACT [SNOMEDCT_2005_07_31:8262006] +xref: MSH:D001651 +xref: NCI:C34420 +xref: SNOMEDCT_US_2015_03_01:20719006 +xref: SNOMEDCT_US_2015_03_01:8262006 +xref: UMLS_CUI:C0005398 +is_a: DOID:13580 ! cholestasis + +[Term] +id: DOID:1362 +name: paranasal sinus sarcoma +def: "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient] +synonym: "sarcoma of Accessory sinus" EXACT [NCI2004_11_17:C6849] +xref: NCI:C6849 +xref: UMLS_CUI:C1335342 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:13620 +name: patent foramen ovale +synonym: "Atrial septal defect within oval fossa (disorder)" EXACT [SNOMEDCT_2005_07_31:204315000] +synonym: "Defect, Patent or persistent, ostium secundum" EXACT [MTHICD9_2006:745.5] +synonym: "foramen ovale patent" EXACT [CSP2005:0725-0467] +synonym: "Ostium secundum type atrial septal defect" EXACT [ICD9CM_2006:745.5] +synonym: "Ostium secundum type atrial septal defect (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:78902000] +synonym: "Patent Foramen Ovale" EXACT [NCI2004_11_17:C34619] +synonym: "Patent foramen ovale" EXACT [SNOMEDCT_2005_07_31:156912004] +synonym: "Patent foramen ovale" EXACT [SNOMEDCT_2005_07_31:268316001] +synonym: "Patent foramen ovale (disorder)" EXACT [SNOMEDCT_2005_07_31:204317008] +synonym: "Persistent ostium secundum (disorder)" EXACT [SNOMEDCT_2005_07_31:204318003] +xref: ICD10CM:Q21.1 +xref: MSH:D054092 +xref: NCI:C34619 +xref: SNOMEDCT_US_2015_03_01:156912004 +xref: SNOMEDCT_US_2015_03_01:204317008 +xref: SNOMEDCT_US_2015_03_01:268316001 +xref: SNOMEDCT_US_2015_03_01:78902000 +xref: UMLS_CUI:C0016522 +is_a: DOID:1882 ! atrial heart septal defect + +[Term] +id: DOID:13622 +name: campylobacteriosis +alt_id: DOID:13621 +def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." [url:http\://en.wikipedia.org/wiki/Campylobacteriosis, url:http\://www.health.state.ny.us/diseases/communicable/campylobacteriosis/fact_sheet.htm] +subset: gram-negative_bacterial_infectious_disease +synonym: "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" EXACT [SNOMEDCT_2005_07_31:186143000] +synonym: "Campylobacteriosis (disorder)" EXACT [SNOMEDCT_2005_07_31:86500004] +xref: MSH:D002169 +xref: SNOMEDCT_US_2015_03_01:86500004 +xref: UMLS_CUI:C0006818 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:13623 +name: staphylococcal enterocolitis +def: "A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea." [url:http\://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001] +subset: gram-positive_bacterial_infectious_disease +synonym: "intestinal infection due to staphylococcus" EXACT [ICD9CM_2006:008.41] +synonym: "Staphylococcal enterocolitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32527003] +is_obsolete: true + +[Term] +id: DOID:13626 +name: photokeratitis +synonym: "Photokeratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:1714005] +synonym: "Photokeratitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193770007] +xref: ICD10CM:H16.13 +xref: ICD9CM:370.24 +xref: SNOMEDCT_US_2015_03_01:1714005 +xref: SNOMEDCT_US_2015_03_01:193770007 +xref: UMLS_CUI:C0155078 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:13628 +name: glucose-6-phosphate dehydrogenase deficiency +def: "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans." [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] +synonym: "favism" EXACT [] +synonym: "G6PD deficiency" EXACT [] +xref: ICD10CM:D55.0 +xref: MSH:D005236 +xref: NCI:C34607 +xref: SNOMEDCT_US_2015_03_01:154801000 +xref: SNOMEDCT_US_2015_03_01:191172001 +xref: SNOMEDCT_US_2015_03_01:267558001 +xref: SNOMEDCT_US_2015_03_01:76500009 +xref: UMLS_CUI:C0015702 +is_a: DOID:2862 ! glucosephosphate dehydrogenase deficiency + +[Term] +id: DOID:13629 +name: dentine erosion +xref: ICD9CM:521.32 +xref: UMLS_CUI:C1456162 +is_a: DOID:2498 ! tooth erosion + +[Term] +id: DOID:1363 +name: ethmoid sinus cancer +synonym: "malignant neoplasm of ethmoidal sinus" EXACT [SNOMEDCT_2005_07_31:93787005] +synonym: "malignant neoplasm of ethmoidal sinus" EXACT [ICD9CM_2006:160.3] +synonym: "malignant tumor of ethmoid sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:363426009] +synonym: "malignant tumor of ethmoidal sinus" EXACT [NCI2004_11_17:C3541] +xref: ICD10CM:C31.1 +xref: ICD9CM:160.3 +xref: NCI:C3541 +xref: SNOMEDCT_US_2015_03_01:363426009 +xref: SNOMEDCT_US_2015_03_01:93787005 +xref: UMLS_CUI:C0153477 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:13636 +name: Fanconi's anemia +def: "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair." [url:http\://en.wikipedia.org/wiki/Fanconi_anemia, url:http\://ghr.nlm.nih.gov/condition/fanconi-anemia, url:http\://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "Fanconi anemia" EXACT [] +synonym: "Fanconi pancytopenia" EXACT [] +synonym: "Fanconi panmyelopathy" EXACT [] +xref: ICD10CM:D61.09 +xref: MSH:D005199 +xref: NCI:C62505 +xref: OMIM:227645 +xref: OMIM:227646 +xref: OMIM:227650 +xref: OMIM:300514 +xref: OMIM:600901 +xref: OMIM:603467 +xref: OMIM:605724 +xref: OMIM:609053 +xref: OMIM:609054 +xref: OMIM:610832 +xref: OMIM:613390 +xref: OMIM:613951 +xref: OMIM:614082 +xref: OMIM:614083 +xref: OMIM:614087 +xref: OMIM:615272 +xref: ORDO:84 +xref: SNOMEDCT_US_2015_03_01:30575002 +xref: UMLS_CUI:C0015625 +is_a: DOID:1342 ! congenital hypoplastic anemia + +[Term] +id: DOID:1364 +name: ethmoidal sinus neoplasm +synonym: "neoplasm of ethmoidal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:126677000] +synonym: "tumor of ethmoidal sinus" EXACT [NCI2004_11_17:C4416] +xref: NCI:C4416 +xref: SNOMEDCT_US_2015_03_01:126677000 +xref: UMLS_CUI:C0345668 +is_a: DOID:1350 ! paranasal sinus neoplasm + +[Term] +id: DOID:13641 +name: exfoliation syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pseudoexfoliation glaucoma" EXACT [ICD9CM_2006:365.52] +synonym: "Pseudoexfoliation glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:111514006] +synonym: "Pseudoexfoliation syndrome" EXACT [SNOMEDCT_2005_07_31:44219007] +xref: EFO:0004235 +xref: ICD9CM:365.52 +xref: MSH:D017889 +xref: OMIM:177650 +xref: SNOMEDCT_US_2015_03_01:111514006 +xref: SNOMEDCT_US_2015_03_01:44219007 +xref: UMLS_CUI:C0206368 +is_a: DOID:12571 ! phacogenic glaucoma +is_a: DOID:240 ! iris disease + +[Term] +id: DOID:13643 +name: pneumococcal septicemia +subset: gram-positive_bacterial_infectious_disease +synonym: "Pneumococcal septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:90849005] +synonym: "Pneumococcal septicemia [Streptococcus pneumoniae septicemia]" EXACT [ICD9CM_2006:038.2] +synonym: "Septicaemia due to streptococcus pneumoniae" EXACT [SNOMEDCT_2005_07_31:186382007] +synonym: "Septicemia due to streptococcus pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:310668004] +synonym: "Streptococcus pneumoniae septicemia" EXACT [MTHICD9_2006:038.2] +is_obsolete: true + +[Term] +id: DOID:13644 +name: streptococcal septicemia +subset: gram-positive_bacterial_infectious_disease +synonym: "Streptococcal septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:29577008] +synonym: "Streptococcal septicemia, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187330001] +is_obsolete: true + +[Term] +id: DOID:13648 +name: paranoid state +alt_id: DOID:13647 +is_obsolete: true + +[Term] +id: DOID:13649 +name: polyneuropathy in collagen vascular disease +synonym: "Polyneuropathy in collagen vascular disease (disorder)" EXACT [SNOMEDCT_2005_07_31:193177003] +synonym: "Polyneuropathy in collagen vascular disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193181003] +xref: ICD9CM:357.1 +xref: SNOMEDCT_US_2015_03_01:193177003 +xref: SNOMEDCT_US_2015_03_01:193181003 +xref: UMLS_CUI:C0154759 +is_a: DOID:1389 ! polyneuropathy +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:13650 +name: joint disorder +alt_id: DOID:13851 +alt_id: DOID:14229 +alt_id: DOID:14273 +alt_id: DOID:14281 +alt_id: DOID:7102 +alt_id: DOID:9932 +synonym: "Joint disorder NOS, of ankle and foot (disorder)" EXACT [SNOMEDCT_2005_07_31:202642007] +synonym: "Joint disorder NOS, of multiple sites" EXACT [] +synonym: "Joint disorder NOS, of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:202644008] +synonym: "Joint disorder NOS, of shoulder region" EXACT [] +synonym: "Joint disorder NOS, of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:202636008] +synonym: "Joint disorder NOS, of the forearm" EXACT [] +synonym: "Joint disorder NOS, of the forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:202638009] +synonym: "Joint disorder NOS, of the lower leg" EXACT [] +synonym: "Joint disorder NOS, of the lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:202641000] +synonym: "Joint disorder NOS, of the pelvic region and thigh" EXACT [] +synonym: "Joint disorder NOS, of the pelvic region and thigh (disorder)" EXACT [SNOMEDCT_2005_07_31:202640004] +synonym: "Joint disorder NOS, of the upper arm" EXACT [] +synonym: "Joint disorder NOS, of the upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:202637004] +synonym: "Unspecified disorder of ankle and foot joint" EXACT [ICD9CM_2006:719.97] +synonym: "Unspecified disorder of forearm joint" EXACT [ICD9CM_2006:719.93] +synonym: "Unspecified disorder of joint of pelvic region and thigh" EXACT [ICD9CM_2006:719.95] +synonym: "Unspecified disorder of joint of shoulder region" EXACT [ICD9CM_2006:719.91] +synonym: "Unspecified disorder of lower leg joint" EXACT [ICD9CM_2006:719.96] +synonym: "Unspecified disorder of upper arm joint" EXACT [ICD9CM_2006:719.92] +synonym: "Unspecified joint disorder of multiple sites" EXACT [ICD9CM_2006:719.99] +is_obsolete: true + +[Term] +id: DOID:13651 +name: eversion of lacrimal punctum +synonym: "Eversion of lacrimal punctum (disorder)" EXACT [SNOMEDCT_2005_07_31:28244003] +xref: ICD10CM:H04.52 +xref: ICD9CM:375.51 +xref: SNOMEDCT_US_2015_03_01:28244003 +xref: UMLS_CUI:C0155243 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:13653 +name: stenosis of lacrimal punctum +synonym: "Stenosis of lacrimal punctum (disorder)" EXACT [SNOMEDCT_2005_07_31:74783009] +xref: ICD10CM:H04.56 +xref: ICD9CM:375.52 +xref: SNOMEDCT_US_2015_03_01:74783009 +xref: UMLS_CUI:C0155244 +is_a: DOID:1400 ! lacrimal apparatus disease +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:13654 +name: stenosis of lacrimal passage +synonym: "Stenosis of lacrimal canaliculi" EXACT [ICD9CM_2006:375.53] +synonym: "Stenosis of lacrimal canaliculi (disorder)" EXACT [SNOMEDCT_2005_07_31:81345003] +xref: ICD10CM:H04.54 +xref: ICD10CM:H04.549 +xref: ICD9CM:375.53 +xref: SNOMEDCT_US_2015_03_01:193992001 +xref: SNOMEDCT_US_2015_03_01:81345003 +xref: UMLS_CUI:C0155245 +is_a: DOID:1400 ! lacrimal apparatus disease +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:13655 +name: acquired tear duct stenosis +synonym: "acquired nasolacrimal duct stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:193995004] +synonym: "acquired stenosis of nasolacrimal duct (disorder)" EXACT [SNOMEDCT_2005_07_31:90056003] +synonym: "Stenosis of nasolacrimal duct, acquired" EXACT [ICD9CM_2006:375.56] +synonym: "Tear duct - acquired stenosis" EXACT [SNOMEDCT_2005_07_31:267739007] +synonym: "Tear duct - acquired stenosis" EXACT [SNOMEDCT_2005_07_31:155184002] +xref: ICD10CM:H04.55 +xref: ICD9CM:375.56 +xref: SNOMEDCT_US_2015_03_01:155184002 +xref: SNOMEDCT_US_2015_03_01:193995004 +xref: SNOMEDCT_US_2015_03_01:267739007 +xref: SNOMEDCT_US_2015_03_01:90056003 +xref: UMLS_CUI:C0155248 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:13656 +name: gastrin secretion abnormality +synonym: "abnormality of gastrin secretion" EXACT [SNOMEDCT_2005_07_31:190443003] +synonym: "abnormality of secretion of gastrin" EXACT [ICD9CM_2006:251.5] +synonym: "abnormality of secretion of gastrin (disorder)" EXACT [SNOMEDCT_2005_07_31:47344007] +synonym: "Gastrin secretion abnormality NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190445005] +xref: ICD9CM:251.5 +xref: SNOMEDCT_US_2015_03_01:190443003 +xref: SNOMEDCT_US_2015_03_01:190445005 +xref: SNOMEDCT_US_2015_03_01:47344007 +xref: UMLS_CUI:C0000774 +is_a: DOID:1428 ! endocrine pancreas disease + +[Term] +id: DOID:13658 +name: infective urethral stricture +xref: ICD9CM:598.01 +xref: UMLS_CUI:C0156282 +is_a: DOID:1829 ! urethral stricture + +[Term] +id: DOID:13662 +name: ulcer of anus and rectum +synonym: "anal and rectal ulcer NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197227009] +xref: ICD10CM:K62.6 +xref: ICD9CM:569.41 +xref: SNOMEDCT_US_2015_03_01:197227009 +xref: UMLS_CUI:C0400832 +is_a: DOID:1285 ! rectal disease + +[Term] +id: DOID:13663 +name: acute suppurative otitis media with tympanic membrane intact +def: "A purulent acute otitis media with no perforation of the tympanic membrane." [url:http\://books.google.com/books?id=V3p0FpcwweYC&pg=PA701&lpg#v=onepage&q=&f=false] +synonym: "acute suppurative otitis media without spontaneous rupture of ear drum" EXACT [ICD9CM_2006:382.00] +synonym: "acute suppurative otitis media without spontaneous rupture of ear drum (disorder)" EXACT [SNOMEDCT_2005_07_31:14948001] +is_obsolete: true + +[Term] +id: DOID:13664 +name: post-vaccinal encephalitis +synonym: "Encephalitis following immunization procedures" EXACT [ICD9CM_2006:323.5] +synonym: "Post-Vaccinal Encephalomyelitis" EXACT [] +synonym: "Postvaccinal encephalomyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:31367003] +xref: ICD10CM:G04.02 +xref: MSH:D004673 +xref: SNOMEDCT_US_2015_03_01:31367003 +xref: UMLS_CUI:C0751101 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:13668 +name: meningococcal encephalitis +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:18071005] +is_obsolete: true + +[Term] +id: DOID:13670 +name: hypocalcemia and hypomagnesemia of newborn +synonym: "Hypocalcemia and/or hypomagnesemia of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:77604004] +is_obsolete: true + +[Term] +id: DOID:13676 +name: posterior scleritis +synonym: "Posterior scleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:267660007] +synonym: "Posterior scleritis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:49429000] +xref: ICD10CM:H15.03 +xref: ICD9CM:379.07 +xref: SNOMEDCT_US_2015_03_01:194144007 +xref: SNOMEDCT_US_2015_03_01:267660007 +xref: SNOMEDCT_US_2015_03_01:49429000 +xref: UMLS_CUI:C0155357 +is_a: DOID:13452 ! scleritis + +[Term] +id: DOID:13677 +name: SAPHO syndrome +synonym: "Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [SNOMEDCT_2005_07_31:203140009] +xref: MSH:D020083 +xref: NCI:C84530 +xref: SNOMEDCT_US_2015_03_01:203140009 +xref: SNOMEDCT_US_2015_03_01:60684003 +xref: UMLS_CUI:C0263859 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:13679 +name: simple type schizophrenia subchronic state +is_obsolete: true + +[Term] +id: DOID:13680 +name: simple type schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:13681 +name: simple type schizophrenia in remission +is_obsolete: true + +[Term] +id: DOID:13682 +name: simple type schizophrenia chronic state +is_obsolete: true + +[Term] +id: DOID:13687 +name: chronic duodenal ileus +synonym: "chronic duodenal ileus (disorder)" EXACT [SNOMEDCT_2005_07_31:52232007] +xref: ICD10CM:K31.5 +xref: ICD9CM:537.2 +xref: SNOMEDCT_US_2015_03_01:52232007 +xref: UMLS_CUI:C0156087 +is_a: DOID:3558 ! duodenal obstruction + +[Term] +id: DOID:13689 +name: prostate calculus +synonym: "calculus of prostate" EXACT [ICD9CM_2006:602.0] +synonym: "calculus of prostate" EXACT [SNOMEDCT_2005_07_31:155934005] +synonym: "calculus of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:85324003] +synonym: "Prostatic lithiasis" EXACT [SNOMEDCT_2005_07_31:95592006] +synonym: "Prostatic stone" EXACT [MTHICD9_2006:602.0] +synonym: "Stone of prostate" EXACT [NCI2004_11_17:C26936] +xref: ICD10CM:N42.0 +xref: ICD9CM:602.0 +xref: NCI:C26936 +xref: SNOMEDCT_US_2015_03_01:155934005 +xref: SNOMEDCT_US_2015_03_01:85324003 +xref: SNOMEDCT_US_2015_03_01:95592006 +xref: UMLS_CUI:C0149525 +is_a: DOID:9590 ! lower urinary tract calculus + +[Term] +id: DOID:13690 +name: acute gonococcal cystitis +synonym: "acute gonococcal cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:24868007] +synonym: "acute gonorrhea of bladder" EXACT [MTHICD9_2006:098.11] +synonym: "Gonococcal cystitis (acute)" EXACT [ICD9CM_2006:098.11] +xref: ICD9CM:098.11 +xref: SNOMEDCT_US_2015_03_01:24868007 +xref: UMLS_CUI:C0153191 +is_a: DOID:13148 ! acute cystitis + +[Term] +id: DOID:13691 +name: dermoid cyst of skin +synonym: "Dermoid cyst of skin" EXACT [SNOMEDCT_2005_07_31:201325006] +synonym: "Dermoid cyst of skin" EXACT [SNOMEDCT_2005_07_31:154630005] +synonym: "Dermoid cyst of skin (finding)" EXACT [SNOMEDCT_2005_07_31:276729007] +synonym: "skin Dermoid" EXACT [NCI2004_11_17:C4632] +xref: NCI:C4632 +xref: SNOMEDCT_US_2015_03_01:154630005 +xref: SNOMEDCT_US_2015_03_01:201325006 +xref: SNOMEDCT_US_2015_03_01:276729007 +xref: UMLS_CUI:C0349502 +is_a: DOID:2658 ! dermoid cyst + +[Term] +id: DOID:13693 +name: disorder of ureter +synonym: "disorder of ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:128073008] +synonym: "Ureteric disease" EXACT [NCI2004_11_17:C27148] +is_obsolete: true + +[Term] +id: DOID:13694 +name: unilateral vesicoureteral reflux with reflux nephropathy +is_obsolete: true + +[Term] +id: DOID:13695 +name: bilateral vesicoureteral reflux with reflux nephropathy +is_obsolete: true + +[Term] +id: DOID:13696 +name: vesicoureteral reflux with reflux nephropathy +is_obsolete: true + +[Term] +id: DOID:137 +name: vagina squamous papilloma +synonym: "squamous papilloma of vagina" EXACT [NCI2004_11_17:C6374] +xref: NCI:C6374 +xref: UMLS_CUI:C1336943 +is_a: DOID:0060114 ! vaginal benign neoplasm +is_a: DOID:138 ! vaginal squamous tumor + +[Term] +id: DOID:13702 +name: postpartum benign essential hypertension +is_obsolete: true + +[Term] +id: DOID:13709 +name: premature ejaculation +xref: ICD10CM:F52.4 +xref: ICD9CM:302.75 +xref: MSH:D061686 +xref: NCI:C94349 +xref: SNOMEDCT_US_2015_03_01:123302009 +xref: SNOMEDCT_US_2015_03_01:154905005 +xref: SNOMEDCT_US_2015_03_01:192468006 +xref: SNOMEDCT_US_2015_03_01:268762007 +xref: SNOMEDCT_US_2015_03_01:44001008 +xref: UMLS_CUI:C0033038 +is_a: DOID:10132 ! psychosexual disorder + +[Term] +id: DOID:1371 +name: uterine corpus adenomatoid tumor +synonym: "uterine corpus localized epithelial Mesothelioma" EXACT [] +xref: NCI:C27250 +xref: UMLS_CUI:C1336902 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:13711 +name: dental fluorosis +synonym: "Intrinsic enamel discolouration of fluorosis" EXACT [SNOMEDCT_2005_07_31:30265004] +synonym: "Mottled teeth" EXACT [ICD9CM_2006:520.3] +synonym: "Mottling of enamel" EXACT [MTHICD9_2006:520.3] +xref: ICD10CM:K00.3 +xref: ICD9CM:520.3 +xref: MSH:D009050 +xref: NCI:C85059 +xref: SNOMEDCT_US_2015_03_01:120541000119103 +xref: SNOMEDCT_US_2015_03_01:30265004 +xref: UMLS_CUI:C0026618 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:13714 +name: anodontia +synonym: "Anodontia" EXACT [ICD9CM_2006:520.0] +synonym: "Anodontia" EXACT [SNOMEDCT_2005_07_31:196265005] +synonym: "Anodontia" EXACT [SNOMEDCT_2005_07_31:196266006] +synonym: "Anodontia (disorder)" EXACT [SNOMEDCT_2005_07_31:26624006] +synonym: "Anodontia NOS (finding)" EXACT [SNOMEDCT_2005_07_31:196269004] +synonym: "Complete absence of teeth" EXACT [MTHICD9_2006:520.0] +synonym: "Developmental absence of tooth" EXACT [] +synonym: "Total anodontia of permanent and deciduous teeth" EXACT [SNOMEDCT_2005_07_31:16958000] +xref: ICD10CM:K00.0 +xref: ICD9CM:520.0 +xref: MSH:D000848 +xref: OMIM:206780 +xref: SNOMEDCT_US_2015_03_01:16958000 +xref: SNOMEDCT_US_2015_03_01:196265005 +xref: SNOMEDCT_US_2015_03_01:196266006 +xref: SNOMEDCT_US_2015_03_01:196269004 +xref: SNOMEDCT_US_2015_03_01:234951001 +xref: SNOMEDCT_US_2015_03_01:26624006 +xref: UMLS_CUI:C0399352 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:13717 +name: mature cataract +synonym: "Mature cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:849000] +synonym: "Total or mature cataract" EXACT [ICD9CM_2006:366.17] +synonym: "Total, mature senile cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:193590000] +xref: SNOMEDCT_US_2015_03_01:193590000 +xref: UMLS_CUI:C0152257 +is_a: DOID:9669 ! senile cataract + +[Term] +id: DOID:13720 +name: Schistosoma mattheei infectious disease +def: "A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei." [url:http\://en.wikipedia.org/wiki/Schistosomiasis] +synonym: "Infection by Schistosoma Mattheii" EXACT [NCI2004_11_17:C35365] +synonym: "Infection by Schistosoma mattheii (disorder)" EXACT [SNOMEDCT_2005_07_31:38201005] +is_obsolete: true + +[Term] +id: DOID:13722 +name: neuroschistosomiasis +def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." [url:http\://www.ajtmh.org/cgi/content/full/76/5/964, url:http\://www.cdc.gov/ncidod/eid/vol12no09/06-0113.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/16138195, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16138195] +xref: MSH:D020818 +xref: UMLS_CUI:C0752191 +is_a: DOID:1395 ! schistosomiasis + +[Term] +id: DOID:13723 +name: Schistosoma bovis infectious disease +def: "A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10333324] +synonym: "Infection by Schistosoma Bovis" EXACT [NCI2004_11_17:C35363] +synonym: "Infection by Schistosoma bovis (disorder)" EXACT [SNOMEDCT_2005_07_31:111920004] +is_obsolete: true + +[Term] +id: DOID:13724 +name: scurvy +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E54 +xref: MSH:D012614 +xref: NCI:C35010 +xref: OMIM:240400 +xref: SNOMEDCT_US_2015_03_01:154727008 +xref: SNOMEDCT_US_2015_03_01:190638001 +xref: SNOMEDCT_US_2015_03_01:238129003 +xref: SNOMEDCT_US_2015_03_01:267493006 +xref: SNOMEDCT_US_2015_03_01:76169001 +xref: UMLS_CUI:C0036474 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:13725 +name: beriberi +xref: ICD10CM:E51.1 +xref: ICD10CM:E51.11 +xref: ICD9CM:265.0 +xref: MSH:D001602 +xref: NCI:C34418 +xref: SNOMEDCT_US_2015_03_01:154725000 +xref: SNOMEDCT_US_2015_03_01:190625009 +xref: SNOMEDCT_US_2015_03_01:267491008 +xref: SNOMEDCT_US_2015_03_01:35843007 +xref: SNOMEDCT_US_2015_03_01:36656008 +xref: UMLS_CUI:C0005122 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:1373 +name: endometrial stromal nodule +xref: NCI:C4262 +xref: SNOMEDCT_US_2015_03_01:189810002 +xref: SNOMEDCT_US_2015_03_01:70971005 +xref: UMLS_CUI:C0334485 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:13730 +name: malignant renovascular hypertension +is_a: DOID:13731 ! malignant secondary hypertension + +[Term] +id: DOID:13731 +name: malignant secondary hypertension +xref: ICD9CM:405.0 +xref: SNOMEDCT_US_2015_03_01:194784007 +xref: SNOMEDCT_US_2015_03_01:49863005 +xref: SNOMEDCT_US_2015_03_01:89242004 +xref: UMLS_CUI:C0155617 +is_a: DOID:10824 ! malignant hypertension +is_a: DOID:11130 ! secondary hypertension + +[Term] +id: DOID:13732 +name: panophthalmitis +synonym: "Panophthalmitis (disorder)" EXACT [SNOMEDCT_2005_07_31:33382000] +xref: ICD9CM:360.02 +xref: MSH:D010202 +xref: SNOMEDCT_US_2015_03_01:33382000 +xref: UMLS_CUI:C0030332 +is_a: DOID:13452 ! scleritis +is_a: DOID:9724 ! purulent endophthalmitis + +[Term] +id: DOID:13734 +name: AIDS-related Pneumocystis jirovecii pneumonia +def: "A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm] +is_obsolete: true + +[Term] +id: DOID:13736 +name: uterine inflammatory disease +synonym: "Inflammatory disease of the uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:28783002] +synonym: "Unspecified inflammatory disease of uterus" EXACT [ICD9CM_2006:615.9] +synonym: "Unspecified uterine inflammatory disease (disorder)" EXACT [SNOMEDCT_2005_07_31:198191007] +synonym: "Unspecified uterine inflammatory disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198197006] +xref: ICD10CM:N71.9 +xref: ICD9CM:615.9 +xref: SNOMEDCT_US_2015_03_01:198191007 +xref: SNOMEDCT_US_2015_03_01:198197006 +xref: SNOMEDCT_US_2015_03_01:28783002 +xref: UMLS_CUI:C0269047 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:13738 +name: infarct of liver +synonym: "hepatic infarction" EXACT [ICD9CM_2006:573.4] +synonym: "hepatic infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:17890003] +xref: ICD10CM:K76.3 +xref: ICD9CM:573.4 +xref: SNOMEDCT_US_2015_03_01:17890003 +xref: UMLS_CUI:C0151731 +is_a: DOID:272 ! hepatic vascular disease + +[Term] +id: DOID:13739 +name: nutmeg liver +synonym: "chronic passive congestion of liver" EXACT [ICD9CM_2006:573.0] +synonym: "chronic passive congestion of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:34736002] +xref: ICD10CM:K76.1 +xref: ICD9CM:573.0 +xref: SNOMEDCT_US_2015_03_01:34736002 +xref: UMLS_CUI:C0156195 +is_a: DOID:272 ! hepatic vascular disease + +[Term] +id: DOID:13742 +name: neurofibroma of spinal cord +xref: NCI:C5145 +xref: UMLS_CUI:C1336047 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:13743 +name: spinal cord lipoma +synonym: "Lipoma of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:189017000] +synonym: "Spinal Cord Lipoma" EXACT [NCI2004_11_17:C4619] +xref: NCI:C4619 +xref: SNOMEDCT_US_2015_03_01:189017000 +xref: UMLS_CUI:C0347446 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:1375 +name: neonatal urinary tract infectious disease +synonym: "Neonatal urinary tract infection (disorder)" EXACT [SNOMEDCT_2005_07_31:12301009] +synonym: "urinary tract infection of newborn" EXACT [ICD9CM_2006:771.82] +xref: ICD10CM:P39.3 +xref: ICD9CM:771.82 +xref: SNOMEDCT_US_2015_03_01:12301009 +xref: UMLS_CUI:C0235815 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:13753 +name: Histoplasma duboisii meningitis +def: "An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures." [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] +synonym: "Histoplasma duboisii with meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187048004] +is_obsolete: true + +[Term] +id: DOID:13754 +name: Histoplasma capsulatum meningitis +def: "An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures." [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] +synonym: "Histoplasma capsulatum with meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187038001] +is_obsolete: true + +[Term] +id: DOID:13755 +name: Histoplasma duboisii pericarditis +def: "An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough." [url:http\://emedicine.medscape.com/article/299054-overview, url:http\://www.ncbi.nlm.nih.gov/pubmed/16924162] +synonym: "Histoplasma duboisii with pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:187050007] +is_obsolete: true + +[Term] +id: DOID:13756 +name: epiphora due to insufficient drainage +synonym: "Epiphora due to insufficient drainage (disorder)" EXACT [SNOMEDCT_2005_07_31:85042000] +xref: ICD10CM:H04.22 +xref: ICD9CM:375.22 +xref: SNOMEDCT_US_2015_03_01:85042000 +xref: UMLS_CUI:C0155234 +is_a: DOID:13757 ! excessive tearing + +[Term] +id: DOID:13757 +name: excessive tearing +synonym: "(lacrimal disorder NOS) or (epiphora)" EXACT [SNOMEDCT_2005_07_31:267740009] +synonym: "(lacrimal disorder NOS) or (epiphora)" EXACT [SNOMEDCT_2005_07_31:155185001] +synonym: "Epiphora" EXACT [ICD9CM_2006:375.2] +synonym: "Epiphora NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193985006] +synonym: "Epiphora, unspecified as to cause" EXACT [ICD9CM_2006:375.20] +synonym: "Excessive tear production (disorder)" EXACT [SNOMEDCT_2005_07_31:49393005] +synonym: "Has watering eyes" EXACT [SNOMEDCT_2005_07_31:162289008] +synonym: "Has watering eyes" EXACT [SNOMEDCT_2005_07_31:139559008] +synonym: "Has watering eyes (finding)" EXACT [SNOMEDCT_2005_07_31:267094008] +synonym: "Watering eye" EXACT [SNOMEDCT_2005_07_31:193982009] +xref: ICD10CM:H04.2 +xref: ICD10CM:H04.20 +xref: ICD9CM:375.2 +xref: ICD9CM:375.20 +xref: MSH:D007766 +xref: NCI:C50552 +xref: SNOMEDCT_US_2015_03_01:155185001 +xref: SNOMEDCT_US_2015_03_01:193982009 +xref: SNOMEDCT_US_2015_03_01:193985006 +xref: SNOMEDCT_US_2015_03_01:267740009 +xref: SNOMEDCT_US_2015_03_01:418035005 +xref: SNOMEDCT_US_2015_03_01:49393005 +xref: UMLS_CUI:C0152227 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:1376 +name: perinatal infectious disease +is_obsolete: true + +[Term] +id: DOID:13760 +name: Pthirus pubis infestation +def: "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin." [url:http\://www.cdc.gov/lice/pubic/disease.html] +subset: sexually_transmitted_infectious_disease +synonym: "crabs" EXACT [] +synonym: "Infestation by Phthirus pubis (disorder)" EXACT [SNOMEDCT_2005_07_31:71011005] +synonym: "Pediculosis Pubis" EXACT [NCI2004_11_17:C35777] +synonym: "Pediculus pubis" EXACT [MTHICD9_2006:132.2] +synonym: "Phthiriasis pubis" EXACT [SNOMEDCT_2005_07_31:271545007] +synonym: "Phthirus pubis" EXACT [SNOMEDCT_2005_07_31:243683001] +synonym: "Phthirus pubis [pubic louse]" EXACT [ICD9CM_2006:132.2] +synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [SNOMEDCT_2005_07_31:187210003] +synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [SNOMEDCT_2005_07_31:154420009] +xref: ICD10CM:B85.3 +xref: ICD9CM:132.2 +xref: NCI:C35777 +xref: SNOMEDCT_US_2015_03_01:154420009 +xref: SNOMEDCT_US_2015_03_01:187210003 +xref: SNOMEDCT_US_2015_03_01:243683001 +xref: SNOMEDCT_US_2015_03_01:271545007 +xref: SNOMEDCT_US_2015_03_01:71011005 +xref: UMLS_CUI:C0030759 +is_a: DOID:5502 ! lice infestation + +[Term] +id: DOID:13762 +name: bovine trypanosomiasis +def: "A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16965857] +is_obsolete: true + +[Term] +id: DOID:13763 +name: dourine +def: "A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." [url:http\://en.wikipedia.org/wiki/Dourine, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf] +synonym: "Covering disease" EXACT [MTH:NOCODE] +synonym: "Infection by Trypanosoma equiperdum (disorder)" EXACT [SNOMEDCT_2005_07_31:15566009] +is_obsolete: true + +[Term] +id: DOID:13767 +name: clonorchiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." [url:http\://en.wikipedia.org/wiki/Clonorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm] +synonym: "Clonorchiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:11938002] +synonym: "Oriental liver fluke disease" EXACT [MTHICD9_2006:121.1] +xref: ICD10CM:B66.1 +xref: ICD9CM:121.1 +xref: MSH:D003003 +xref: SNOMEDCT_US_2015_03_01:11938002 +xref: UMLS_CUI:C0009021 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:13768 +name: opisthorchiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." [url:http\://en.wikipedia.org/wiki/Opisthorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] +synonym: "Infection by Opisthorchis" EXACT [MTHICD9_2006:121.0] +synonym: "Opisthorchiasis (& [cat liver fluke infection])" EXACT [SNOMEDCT_2005_07_31:187124006] +synonym: "Opisthorchiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:1059007] +xref: ICD10CM:B66.0 +xref: ICD9CM:121.0 +xref: MSH:D009889 +xref: SNOMEDCT_US_2015_03_01:1059007 +xref: SNOMEDCT_US_2015_03_01:187124006 +xref: UMLS_CUI:C0029106 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:13774 +name: Addison's disease +def: "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands." [url:http\://en.wikipedia.org/wiki/Addison%27s_disease] +synonym: "Addison disease" EXACT [] +synonym: "Addison disease, chronic adrenal insufficiency" EXACT [] +synonym: "ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL " EXACT [] +synonym: "HYPOADRENOCORTICISM, FAMILIAL" EXACT [] +synonym: "primary adrenocortical insufficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:373662000] +synonym: "primary hypoadrenalism" EXACT [SNOMEDCT_2005_07_31:68588005] +xref: ICD10CM:E27.1 +xref: MSH:D000224 +xref: NCI:C113172 +xref: NCI:C26689 +xref: OMIM:103230 +xref: OMIM:240200 +xref: SNOMEDCT_US_2015_03_01:111562000 +xref: SNOMEDCT_US_2015_03_01:154707007 +xref: SNOMEDCT_US_2015_03_01:267483004 +xref: SNOMEDCT_US_2015_03_01:363732003 +xref: SNOMEDCT_US_2015_03_01:367376006 +xref: SNOMEDCT_US_2015_03_01:373662000 +xref: SNOMEDCT_US_2015_03_01:68588005 +xref: UMLS_CUI:C0001403 +is_a: DOID:10493 ! adrenal cortical hypofunction + +[Term] +id: DOID:13775 +name: plantar wart +def: "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot." [url:http\://en.wikipedia.org/wiki/Plantar_wart] +synonym: "PLANTAR WART" EXACT [MTH:587] +synonym: "Verruca Plantaris" EXACT [NCI2004_11_17:C26913] +synonym: "Verruca plantaris" EXACT [MTHICD9_2006:078.19] +synonym: "Verruca plantaris (disorder)" EXACT [SNOMEDCT_2005_07_31:63440008] +xref: ICD10CM:B07.0 +xref: ICD9CM:078.12 +xref: NCI:C26913 +xref: SNOMEDCT_US_2015_03_01:154363006 +xref: SNOMEDCT_US_2015_03_01:63440008 +xref: UMLS_CUI:C0042548 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:13777 +name: epidermodysplasia verruciformis +def: "An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body." [url:http\://emedicine.medscape.com/article/1131981-overview, url:http\://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D004819 +xref: NCI:C113445 +xref: OMIM:226400 +xref: SNOMEDCT_US_2015_03_01:19138001 +xref: UMLS_CUI:C0014522 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:13778 +name: chancroid +def: "A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers." [url:http\://en.wikipedia.org/wiki/Chancroid, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001659/] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "(Chancroid [& bubo]) or (Ducrey's chancre)" EXACT [SNOMEDCT_2005_07_31:186945008] +synonym: "Ulcus molle, skin" EXACT [MTHICD9_2006:099.0] +xref: ICD10CM:A57 +xref: ICD9CM:099.0 +xref: MSH:D002602 +xref: SNOMEDCT_US_2015_03_01:154391003 +xref: SNOMEDCT_US_2015_03_01:186945008 +xref: SNOMEDCT_US_2015_03_01:266143009 +xref: SNOMEDCT_US_2015_03_01:266213004 +xref: SNOMEDCT_US_2015_03_01:87429008 +xref: UMLS_CUI:C0007947 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:1378 +name: uterine corpus mixed epithelial and mesenchymal tumor +is_obsolete: true + +[Term] +id: DOID:13781 +name: hypermobility syndrome +synonym: "benign joint hypermobility" EXACT [SNOMEDCT_2005_07_31:156723005] +synonym: "hypermobility syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:85551004] +xref: ICD10CM:M35.7 +xref: ICD9CM:728.5 +xref: SNOMEDCT_US_2015_03_01:156723005 +xref: SNOMEDCT_US_2015_03_01:85551004 +xref: UMLS_CUI:C0152093 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:13787 +name: localized anterior staphyloma +synonym: "Anterior staphyloma, localized" EXACT [ICD9CM_2006:379.14] +synonym: "localized anterior staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:21946002] +xref: ICD10CM:H15.82 +xref: ICD9CM:379.14 +xref: SNOMEDCT_US_2015_03_01:21946002 +xref: UMLS_CUI:C0155362 +is_a: DOID:11595 ! scleral staphyloma + +[Term] +id: DOID:13788 +name: equatorial staphyloma +synonym: "Equatorial staphyloma (disorder)" EXACT [SNOMEDCT_2005_07_31:82146006] +xref: ICD10CM:H15.81 +xref: ICD9CM:379.13 +xref: SNOMEDCT_US_2015_03_01:82146006 +xref: UMLS_CUI:C0155361 +is_a: DOID:11595 ! scleral staphyloma + +[Term] +id: DOID:13789 +name: staphyloma posticum +synonym: "Staphyloma posticum (disorder)" EXACT [SNOMEDCT_2005_07_31:87819007] +xref: ICD10CM:H15.83 +xref: ICD9CM:379.12 +xref: SNOMEDCT_US_2015_03_01:87819007 +xref: UMLS_CUI:C0155360 +is_a: DOID:11595 ! scleral staphyloma + +[Term] +id: DOID:13790 +name: acute tympanitis +synonym: "acute myringitis (disorder)" EXACT [SNOMEDCT_2005_07_31:297009] +synonym: "acute myringitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194313009] +synonym: "acute myringitis, unspecified" EXACT [ICD9CM_2006:384.00] +synonym: "Unspecified acute tympanitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194312004] +xref: ICD10CM:H73.0 +xref: ICD10CM:H73.00 +xref: ICD10CM:H73.009 +xref: ICD9CM:384.00 +xref: SNOMEDCT_US_2015_03_01:194312004 +xref: SNOMEDCT_US_2015_03_01:194313009 +xref: SNOMEDCT_US_2015_03_01:297009 +xref: UMLS_CUI:C0155460 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:13791 +name: myringitis bullosa hemorrhagica +synonym: "Bullous myringitis" EXACT [ICD9CM_2006:384.01] +synonym: "Bullous myringitis (disorder)" EXACT [SNOMEDCT_2005_07_31:33528003] +xref: ICD10CM:H73.01 +xref: ICD9CM:384.01 +xref: SNOMEDCT_US_2015_03_01:33528003 +xref: UMLS_CUI:C0155461 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:13794 +name: anterior scleritis +synonym: "Anterior scleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:63454000] +xref: ICD10CM:H15.01 +xref: ICD9CM:379.03 +xref: SNOMEDCT_US_2015_03_01:63454000 +xref: UMLS_CUI:C0155353 +is_a: DOID:13452 ! scleritis + +[Term] +id: DOID:13799 +name: female breast central part cancer +synonym: "malignant neoplasm of central part of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188151006] +synonym: "malignant neoplasm of central portion of female breast" EXACT [SNOMEDCT_2005_07_31:93745008] +synonym: "malignant neoplasm of central portion of female breast" EXACT [ICD9CM_2006:174.1] +xref: ICD10CM:C50.11 +xref: ICD9CM:174.1 +xref: SNOMEDCT_US_2015_03_01:188151006 +xref: SNOMEDCT_US_2015_03_01:93745008 +xref: UMLS_CUI:C0153549 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:138 +name: vaginal squamous tumor +xref: NCI:C40242 +xref: UMLS_CUI:C1519931 +is_a: DOID:119 ! vaginal cancer + +[Term] +id: DOID:1380 +name: endometrial cancer +alt_id: DOID:5654 +def: "A uterine cancer that is located_in tissues lining the uterus." [url:http\://www.cancer.gov/dictionary?CdrID=444987] +subset: DO_cancer_slim +synonym: "endometrial Ca" EXACT [SNOMEDCT_2005_07_31:154526001, SNOMEDCT_2005_07_31:269600001] +synonym: "endometrial neoplasm" EXACT [] +synonym: "malignant endometrial neoplasm" EXACT [NCI2004_11_17:C27815] +synonym: "malignant neoplasm of endometrium" EXACT [] +synonym: "neoplasm of endometrium (disorder)" EXACT [SNOMEDCT_2005_07_31:123844007] +synonym: "primary malignant neoplasm of endometrium" EXACT [SNOMEDCT_2005_07_31:93781006] +synonym: "tumor of Endometrium" EXACT [NCI2004_11_17:C3012] +xref: EFO:0004230 +xref: ICD10CM:C54.1 +xref: KEGG:05213 +xref: MSH:D016889 +xref: NCI:C27815 +xref: NCI:C3012 +xref: SNOMEDCT_US_2015_03_01:123844007 +xref: UMLS_CUI:C0007103 +xref: UMLS_CUI:C0014170 +is_a: DOID:363 ! uterine cancer + +[Term] +id: DOID:13800 +name: inclusion conjunctivitis +def: "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." [url:https\://www.aarphealthcare.com/galecontent/inclusion-conjunctivitis-1] +subset: gram-negative_bacterial_infectious_disease +synonym: "adult inclusion conjunctivitis" EXACT [] +synonym: "Chlamydial conjunctivitis" EXACT [SNOMEDCT_2005_07_31:186733005] +synonym: "Chlamydial conjunctivitis" EXACT [SNOMEDCT_2005_07_31:266202002] +synonym: "Inclusion blennorrhoea" EXACT [SNOMEDCT_2005_07_31:56009001] +synonym: "inclusion blenorrhea" EXACT [CSP2005:1114-8463] +synonym: "Paratrachoma" RELATED [MTHICD9_2006:077.0] +xref: ICD10CM:A74.0 +xref: ICD9CM:077.0 +xref: MSH:D003235 +xref: SNOMEDCT_US_2015_03_01:111840005 +xref: SNOMEDCT_US_2015_03_01:154370006 +xref: SNOMEDCT_US_2015_03_01:186674002 +xref: SNOMEDCT_US_2015_03_01:186733005 +xref: SNOMEDCT_US_2015_03_01:231861005 +xref: SNOMEDCT_US_2015_03_01:266109000 +xref: SNOMEDCT_US_2015_03_01:266202002 +xref: SNOMEDCT_US_2015_03_01:56009001 +xref: UMLS_CUI:C0009770 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:13801 +name: pharyngoconjunctival fever +def: "A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache." [url:http\://emedicine.medscape.com/article/1192323-overview, url:http\://en.wikipedia.org/wiki/Pharyngoconjunctival_fever] +synonym: "Adenoviral pharyngoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:70385007] +synonym: "pharyngo-conjunctival fever" EXACT [] +synonym: "Pharyngoconjunctival Fever" EXACT [NCI2004_11_17:C34924] +synonym: "Pharyngoconjunctival fever" EXACT [ICD9CM_2006:077.2] +xref: ICD9CM:077.2 +xref: MSH:D000258 +xref: NCI:C34924 +xref: SNOMEDCT_US_2015_03_01:70385007 +xref: UMLS_CUI:C0031351 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:13809 +name: familial combined hyperlipidemia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial combined hyperlipidemia (disorder)" EXACT [SNOMEDCT_2005_07_31:238040008] +synonym: "familial combined hyperlipidemia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:48190005] +synonym: "familial multiple lipoprotein-type hyperlipidemia (disorder)" EXACT [SNOMEDCT_2005_07_31:299465007] +synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [MTHICD9_2006:272.2] +synonym: "mixed hyperlipidaemia" EXACT [SNOMEDCT_2005_07_31:190780005] +synonym: "mixed hyperlipidaemia" EXACT [SNOMEDCT_2005_07_31:154742006] +synonym: "mixed hyperlipidemia" EXACT [NCI2004_11_17:C34821] +synonym: "mixed hyperlipidemia" EXACT [ICD9CM_2006:272.2] +synonym: "mixed hyperlipidemia (disorder)" EXACT [SNOMEDCT_2005_07_31:267434003] +synonym: "type IIb hyperlipoproteinemia" EXACT [NCI2004_11_17:C34708] +xref: ICD10CM:E78.4 +xref: MSH:D006950 +xref: OMIM:144250 +xref: SNOMEDCT_US_2015_03_01:154742006 +xref: SNOMEDCT_US_2015_03_01:190780005 +xref: SNOMEDCT_US_2015_03_01:238040008 +xref: SNOMEDCT_US_2015_03_01:299465007 +xref: SNOMEDCT_US_2015_03_01:48190005 +xref: UMLS_CUI:C0020474 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:1381 +name: fox fordyce disease +synonym: "Fox-Fordyce disease" EXACT [ICD9CM_2006:705.82] +synonym: "Fox-Fordyce disease (disorder)" EXACT [SNOMEDCT_2005_07_31:65038009] +xref: ICD10CM:L75.2 +xref: ICD9CM:705.82 +xref: MSH:D005588 +xref: NCI:C84716 +xref: SNOMEDCT_US_2015_03_01:254682006 +xref: SNOMEDCT_US_2015_03_01:65038009 +xref: UMLS_CUI:C0016632 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:13810 +name: familial hypercholesterolemia +def: "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." [url:http\://en.wikipedia.org/wiki/Familial_hypercholesterolemia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "familial hyperbetalipoproteinaemia" EXACT [SNOMEDCT_2005_07_31:190776000] +synonym: "familial hyperbetalipoproteinaemia" EXACT [SNOMEDCT_2005_07_31:389985001] +synonym: "familial hypercholesteremia" EXACT [CSP2005:1849-4634] +synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [MTHICD9_2006:272.0] +synonym: "Fredrickson type IIa lipidaemia" EXACT [SNOMEDCT_2005_07_31:190772003] +synonym: "hyperbetalipoproteinemia" EXACT [] +synonym: "type II hyperlipidemia" EXACT [NCI2004_11_17:C34704] +xref: ICD10CM:E78.0 +xref: MSH:D006938 +xref: NCI:C34704 +xref: OMIM:143890 +xref: OMIM:144400 +xref: ORDO:406 +xref: SNOMEDCT_US_2015_03_01:190772003 +xref: SNOMEDCT_US_2015_03_01:190773008 +xref: SNOMEDCT_US_2015_03_01:190775001 +xref: SNOMEDCT_US_2015_03_01:190776000 +xref: SNOMEDCT_US_2015_03_01:31654005 +xref: SNOMEDCT_US_2015_03_01:389985001 +xref: SNOMEDCT_US_2015_03_01:398036000 +xref: UMLS_CUI:C0020445 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:13811 +name: chronic subinvolution of uterus +synonym: "chronic subinvolution of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:198315005] +synonym: "chronic subinvolution of uterus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:53518003] +xref: ICD9CM:621.1 +xref: SNOMEDCT_US_2015_03_01:198315005 +xref: SNOMEDCT_US_2015_03_01:53518003 +xref: UMLS_CUI:C0156370 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:13812 +name: adhesions of uterus +synonym: "adhesions of uterus (finding)" EXACT [SNOMEDCT_2005_07_31:301789000] +synonym: "Band of uterus" EXACT [MTHICD9_2006:621.5] +synonym: "Intrauterine adhesions (disorder)" EXACT [SNOMEDCT_2005_07_31:361115000] +synonym: "Intrauterine adhesions [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:198327008] +synonym: "Intrauterine synechiae" EXACT [ICD9CM_2006:621.5] +synonym: "Intrauterine synechiae (disorder)" EXACT [SNOMEDCT_2005_07_31:367435001] +synonym: "Intrauterine synechiae (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:31107007] +xref: SNOMEDCT_US_2015_03_01:301789000 +xref: SNOMEDCT_US_2015_03_01:31107007 +xref: SNOMEDCT_US_2015_03_01:361115000 +xref: SNOMEDCT_US_2015_03_01:367435001 +xref: UMLS_CUI:C0241593 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:13814 +name: hypoglossal nerve disease +synonym: "disorder of 12th nerve" EXACT [MTHICD9_2006:352.5] +synonym: "disorder of hypoglossal [12th] nerve" EXACT [ICD9CM_2006:352.5] +synonym: "disorder of hypoglossal nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:24777009] +synonym: "disorder of XII nerve" EXACT [NCI2004_11_17:C26954] +xref: ICD10CM:G52.3 +xref: ICD9CM:352.5 +xref: MSH:D020437 +xref: NCI:C26954 +xref: SNOMEDCT_US_2015_03_01:24777009 +xref: UMLS_CUI:C0152181 +is_a: DOID:3418 ! glossopharyngeal nerve disease + +[Term] +id: DOID:13817 +name: single episode manic disease moderate degree +is_obsolete: true + +[Term] +id: DOID:13818 +name: single episode manic disorder mild degree +is_obsolete: true + +[Term] +id: DOID:13819 +name: lymphogranuloma venereum +def: "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." [url:http\://emedicine.medscape.com/article/783971-overview#a0104, url:http\://en.wikipedia.org/wiki/Lymphogranuloma_venereum] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Climatic or tropical bubo" EXACT [MTHICD9_2006:099.1] +synonym: "Durand-Nicolas-Favre disease" EXACT [] +synonym: "Lymphogranuloma inguinale" EXACT [] +synonym: "Poradenitis inguinale" EXACT [] +synonym: "Strumous bubo" EXACT [] +xref: ICD10CM:A55 +xref: ICD9CM:099.1 +xref: MSH:D008219 +xref: NCI:C26822 +xref: SNOMEDCT_US_2015_03_01:154391003 +xref: SNOMEDCT_US_2015_03_01:186946009 +xref: SNOMEDCT_US_2015_03_01:266213004 +xref: SNOMEDCT_US_2015_03_01:89427004 +xref: UMLS_CUI:C0024286 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:1382 +name: miliaria +xref: ICD10CM:L74.3 +xref: MSH:D008883 +xref: NCI:C34820 +xref: SNOMEDCT_US_2015_03_01:201196009 +xref: SNOMEDCT_US_2015_03_01:201411009 +xref: SNOMEDCT_US_2015_03_01:63951004 +xref: UMLS_CUI:C0026113 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:13820 +name: congenital pneumonia +synonym: "Congenital pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:78895009] +synonym: "Congenital pneumonia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206291009] +is_obsolete: true + +[Term] +id: DOID:13822 +name: tetanic cataract +synonym: "Hypocalcaemic cataract" EXACT [SNOMEDCT_2005_07_31:68216000] +synonym: "Tetanic cataract" EXACT [ICD9CM_2006:366.42] +synonym: "Tetanic cataract" EXACT [SNOMEDCT_2005_07_31:193607003] +xref: ICD9CM:366.42 +xref: NCI:C35068 +xref: SNOMEDCT_US_2015_03_01:193607003 +xref: SNOMEDCT_US_2015_03_01:68216000 +xref: UMLS_CUI:C0039613 +is_a: DOID:83 ! cataract + +[Term] +id: DOID:13823 +name: parasitic eyelid infestation +synonym: "Parasitic eyelid infestation (disorder)" EXACT [SNOMEDCT_2005_07_31:193922006] +synonym: "Parasitic infestation of eyelid" EXACT [ICD9CM_2006:373.6] +xref: ICD9CM:373.6 +xref: SNOMEDCT_US_2015_03_01:193922006 +xref: UMLS_CUI:C0155183 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:13825 +name: squamous blepharitis +synonym: "squamous blepharitis (disorder)" EXACT [SNOMEDCT_2005_07_31:58912008] +xref: ICD10CM:H01.02 +xref: ICD9CM:373.02 +xref: SNOMEDCT_US_2015_03_01:58912008 +xref: UMLS_CUI:C0155174 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:1383 +name: sweat gland disease +xref: ICD10CM:L74 +xref: ICD10CM:L74.9 +xref: ICD9CM:705 +xref: ICD9CM:705.9 +xref: MSH:D013543 +xref: SNOMEDCT_US_2015_03_01:156413000 +xref: SNOMEDCT_US_2015_03_01:201209003 +xref: SNOMEDCT_US_2015_03_01:88232005 +xref: UMLS_CUI:C0038986 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:13832 +name: patent ductus arteriosus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ductus arteriosus, Patent" RELATED [] +synonym: "Patent ductus Botalli" EXACT [MTHICD9_2006:747.0] +xref: ICD10CM:Q25.0 +xref: ICD9CM:747.0 +xref: MSH:D004374 +xref: NCI:C84492 +xref: OMIM:607411 +xref: SNOMEDCT_US_2015_03_01:156928009 +xref: SNOMEDCT_US_2015_03_01:83330001 +xref: UMLS_CUI:C0013274 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:13837 +name: convergence excess or spasm +is_obsolete: true + +[Term] +id: DOID:13839 +name: extrapyramidal and movement disease +xref: ICD10CM:G20-G26 +xref: ICD10CM:G25.9 +xref: ICD9CM:333.90 +xref: SNOMEDCT_US_2015_03_01:192866001 +xref: SNOMEDCT_US_2015_03_01:194467002 +xref: UMLS_CUI:C0477355 +is_a: DOID:481 ! central nervous system hereditary degenerative disease + +[Term] +id: DOID:1384 +name: Chlamydia trachomatis urethritis +alt_id: DOID:12004 +subset: gram-negative_bacterial_infectious_disease +synonym: "Chlamydial infection of lower genitourinary tract (disorder)" EXACT [SNOMEDCT_2005_07_31:186729003] +synonym: "Chlamydial urethritis (disorder)" EXACT [SNOMEDCT_2005_07_31:236683007] +synonym: "NGU due to Chlamydia trachomatis" EXACT [MTHICD9_2006:099.41] +synonym: "Nongonococcal urethritis due to Chlamydia trachomatis (disorder)" EXACT [SNOMEDCT_2005_07_31:246832008] +is_obsolete: true + +[Term] +id: DOID:13844 +name: suppressed lactation - delivered +synonym: "Suppressed lactation - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:200439000] +synonym: "Suppressed lactation, with delivery, with or without mention of antepartum condition" EXACT [ICD9CM_2006:676.51] +is_obsolete: true + +[Term] +id: DOID:13845 +name: suppressed lactation +is_obsolete: true + +[Term] +id: DOID:13850 +name: acquired hallux varus +synonym: "acquired hallux varus (disorder)" EXACT [SNOMEDCT_2005_07_31:16123003] +synonym: "Hallux varus (acquired)" EXACT [ICD9CM_2006:735.1] +synonym: "Hallux varus - acquired" EXACT [SNOMEDCT_2005_07_31:156854000] +is_obsolete: true + +[Term] +id: DOID:1386 +name: abetalipoproteinemia +def: "A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL)." [url:http\://en.wikipedia.org/wiki/Abetalipoproteinemia, url:http\://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hypobetalipoproteinemia" EXACT [MTHICD9_2006:272.5] +synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [CSP2005:1849-5137] +xref: ICD10CM:E78.6 +xref: MSH:D000012 +xref: NCI:C84525 +xref: OMIM:200100 +xref: SNOMEDCT_US_2015_03_01:190787008 +xref: SNOMEDCT_US_2015_03_01:83123000 +xref: UMLS_CUI:C0000744 +is_a: DOID:1387 ! hypolipoproteinemia + +[Term] +id: DOID:13861 +name: scleroperikeratitis +synonym: "Scleritis with corneal involvement" EXACT [ICD9CM_2006:379.05] +synonym: "Scleritis with corneal involvement (disorder)" EXACT [SNOMEDCT_2005_07_31:42574005] +xref: ICD10CM:H15.04 +xref: ICD9CM:379.05 +xref: SNOMEDCT_US_2015_03_01:42574005 +xref: UMLS_CUI:C0155355 +is_a: DOID:13452 ! scleritis + +[Term] +id: DOID:13862 +name: acute closed-angle glaucoma +synonym: "acute angle-closure glaucoma" EXACT [ICD9CM_2006:365.22] +synonym: "acute angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:30041005] +xref: ICD10CM:H40.21 +xref: ICD9CM:365.22 +xref: SNOMEDCT_US_2015_03_01:30041005 +xref: UMLS_CUI:C0154946 +is_a: DOID:1405 ! primary angle-closure glaucoma + +[Term] +id: DOID:13864 +name: trochlear nerve disease +synonym: "disorder of trochlear nerve" EXACT [SNOMEDCT_2005_07_31:20610004] +synonym: "disorder of trochlear nerve" EXACT [SNOMEDCT_2005_07_31:230532006] +synonym: "Superior oblique muscle innervation disorder" EXACT [SNOMEDCT_2005_07_31:6845000] +synonym: "Trochlear nerve disorder, NOS" EXACT [SNOMEDCT_2005_07_31:14904006] +xref: ICD10CM:H49.1 +xref: ICD9CM:378.53 +xref: MSH:D020432 +xref: NCI:C78395 +xref: SNOMEDCT_US_2015_03_01:14904006 +xref: SNOMEDCT_US_2015_03_01:20610004 +xref: SNOMEDCT_US_2015_03_01:230532006 +xref: SNOMEDCT_US_2015_03_01:246781001 +xref: SNOMEDCT_US_2015_03_01:67883005 +xref: SNOMEDCT_US_2015_03_01:6845000 +xref: UMLS_CUI:C0271375 +xref: UMLS_CUI:C0423092 +xref: UMLS_CUI:C0751939 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:13865 +name: facial neuralgia +xref: MSH:D005156 +xref: SNOMEDCT_US_2015_03_01:4151000119102 +xref: UMLS_CUI:C0015467 +is_a: DOID:1756 ! facial nerve disease + +[Term] +id: DOID:13866 +name: multiple cranial nerve palsy +synonym: "Multiple cranial nerve palsies" EXACT [ICD9CM_2006:352.6] +synonym: "Multiple cranial nerve palsies (disorder)" EXACT [SNOMEDCT_2005_07_31:193100000] +synonym: "Multiple cranial nerve palsies NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193103003] +synonym: "Multiple cranial nerve palsy (disorder)" EXACT [SNOMEDCT_2005_07_31:78152008] +xref: ICD10CM:G52.7 +xref: ICD9CM:352.6 +xref: SNOMEDCT_US_2015_03_01:193100000 +xref: SNOMEDCT_US_2015_03_01:193103003 +xref: SNOMEDCT_US_2015_03_01:78152008 +xref: UMLS_CUI:C0154733 +is_a: DOID:3418 ! glossopharyngeal nerve disease + +[Term] +id: DOID:13867 +name: focal labyrinthitis +def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." [url:http\://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false] +synonym: "Circumscribed labyrinthitis" EXACT [ICD9CM_2006:386.32] +synonym: "Circumscribed labyrinthitis" EXACT [SNOMEDCT_2005_07_31:194364005] +synonym: "Circumscribed labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:61794006] +xref: ICD9CM:386.32 +xref: SNOMEDCT_US_2015_03_01:194364005 +xref: SNOMEDCT_US_2015_03_01:61794006 +xref: UMLS_CUI:C0155505 +is_a: DOID:1468 ! labyrinthitis + +[Term] +id: DOID:13868 +name: hypoactive sexual desire disorder +synonym: "Lack or loss of sexual desire" EXACT [SNOMEDCT_2005_07_31:192464008] +xref: ICD10CM:F52.0 +xref: ICD9CM:302.71 +xref: MSH:D020018 +xref: NCI:C94337 +xref: SNOMEDCT_US_2015_03_01:112096004 +xref: SNOMEDCT_US_2015_03_01:192464008 +xref: SNOMEDCT_US_2015_03_01:270903007 +xref: SNOMEDCT_US_2015_03_01:78889008 +xref: UMLS_CUI:C0020594 +is_a: DOID:10132 ! psychosexual disorder + +[Term] +id: DOID:13869 +name: psychosexual dysfunction with male orgasmic disease +is_obsolete: true + +[Term] +id: DOID:1387 +name: hypolipoproteinemia +synonym: "Hypolipoproteinaemia (disorder)" EXACT [SNOMEDCT_2005_07_31:363140000] +synonym: "Lipoprotein deficiencies" RELATED [ICD9CM_2006:272.5] +xref: ICD10CM:E78.6 +xref: ICD9CM:272.5 +xref: MSH:D007009 +xref: SNOMEDCT_US_2015_03_01:190783007 +xref: SNOMEDCT_US_2015_03_01:190788003 +xref: SNOMEDCT_US_2015_03_01:267436001 +xref: SNOMEDCT_US_2015_03_01:363140000 +xref: UMLS_CUI:C0020623 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:1388 +name: Tangier disease +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "familial alpha-lipoprotein deficiency" EXACT [] +synonym: "familial high density lipoprotein deficiency" EXACT [CSP2005:1849-5194] +synonym: "familial hypoalphalipoproteinemia" EXACT [SNOMEDCT_2005_07_31:15346004] +xref: ICD10CM:E78.6 +xref: MSH:D013631 +xref: NCI:C85182 +xref: OMIM:205400 +xref: SNOMEDCT_US_2015_03_01:15346004 +xref: SNOMEDCT_US_2015_03_01:190783007 +xref: UMLS_CUI:C0039292 +is_a: DOID:1387 ! hypolipoproteinemia + +[Term] +id: DOID:13884 +name: sick sinus syndrome +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "sinus node infection" EXACT [] +xref: ICD10CM:I49.5 +xref: MSH:D012804 +xref: NCI:C62244 +xref: OMIM:163800 +xref: OMIM:608567 +xref: OMIM:614090 +xref: ORDO:166282 +xref: SNOMEDCT_US_2015_03_01:155373001 +xref: SNOMEDCT_US_2015_03_01:266307005 +xref: SNOMEDCT_US_2015_03_01:36083008 +xref: UMLS_CUI:C0037052 +is_a: DOID:0050824 ! sinoatrial node disease + +[Term] +id: DOID:13887 +name: residual chronic schizophrenia +synonym: "chronic residual schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:71103003] +synonym: "Residual schizophrenia, chronic state" EXACT [ICD9CM_2006:295.62] +is_obsolete: true + +[Term] +id: DOID:1389 +name: polyneuropathy +synonym: "Polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:42345000] +synonym: "Polyneuropathy unspecified" EXACT [SNOMEDCT_2005_07_31:193204000] +synonym: "Polyneuropathy unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:307326004] +synonym: "Polyneuropathy, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:194530007] +xref: ICD10CM:A69.22 +xref: ICD10CM:G62.9 +xref: MSH:D011115 +xref: NCI:C26951 +xref: SNOMEDCT_US_2015_03_01:155080009 +xref: SNOMEDCT_US_2015_03_01:193166009 +xref: SNOMEDCT_US_2015_03_01:193204000 +xref: SNOMEDCT_US_2015_03_01:194530007 +xref: SNOMEDCT_US_2015_03_01:267706009 +xref: SNOMEDCT_US_2015_03_01:307326004 +xref: SNOMEDCT_US_2015_03_01:42345000 +xref: UMLS_CUI:C0152025 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:13891 +name: bird fancier's lung +def: "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf] +synonym: "Avian hypersensitivity Pneumonitis" EXACT [NCI2004_11_17:C34425] +synonym: "bird breeder's lung" EXACT [CSP2005:2596-6673] +synonym: "bird fancier lung" EXACT [] +synonym: "Bird-fancier's lung NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195987000] +synonym: "Bird-fanciers' lung" EXACT [ICD9CM_2006:495.2] +synonym: "Bird-fanciers' lung (disorder)" EXACT [SNOMEDCT_2005_07_31:69339004] +synonym: "pigeon breeder's lung" EXACT [] +synonym: "poultry worker's lung" EXACT [] +xref: ICD10CM:J67.2 +xref: ICD9CM:495.2 +xref: MSH:D001716 +xref: NCI:C34425 +xref: SNOMEDCT_US_2015_03_01:195987000 +xref: SNOMEDCT_US_2015_03_01:69339004 +xref: UMLS_CUI:C0005592 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:139 +name: squamous cell papilloma +synonym: "Epidermoid papilloma" EXACT [NCI2004_11_17:C3712] +synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:63451008] +xref: MSH:D010212 +xref: NCI:C3712 +xref: SNOMEDCT_US_2015_03_01:63451008 +xref: UMLS_CUI:C0205874 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:1390 +name: hypobetalipoproteinemia +synonym: "Hypo-beta-lipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:190786004] +xref: MSH:D006995 +xref: SNOMEDCT_US_2015_03_01:190786004 +xref: UMLS_CUI:C0020597 +is_a: DOID:1387 ! hypolipoproteinemia + +[Term] +id: DOID:13902 +name: white piedra +def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft." [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/] +comment: Adding additional UMLS CUI.\nUMLS has piedra, black piedra and white piedra combined.\nDO has these as distinct diseases. +synonym: "Tinea blanca" EXACT [ICD9CM_2006:111.2] +synonym: "White piedra (disorder)" EXACT [SNOMEDCT_2005_07_31:35586003] +xref: ICD10CM:B36.2 +xref: ICD9CM:111.2 +xref: MSH:D010854 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:35586003 +xref: SNOMEDCT_US_2015_03_01:402135006 +xref: UMLS_CUI:C0031898 +xref: UMLS_CUI:C0040249 +is_a: DOID:0050133 ! superficial mycosis + +[Term] +id: DOID:13906 +name: malignant pleural effusion +synonym: "malignant Pleural Effusion" EXACT [NCI2004_11_17:C9432] +synonym: "malignant pleural effusion" EXACT [SNOMEDCT_2005_07_31:196095009] +synonym: "neoplastic pleural effusion (disorder)" EXACT [SNOMEDCT_2005_07_31:83270006] +is_obsolete: true + +[Term] +id: DOID:13909 +name: red-green color blindness +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Deutan defect" EXACT [ICD9CM_2006:368.52] +synonym: "Deuteranopia" EXACT [MTHICD9_2006:368.52] +synonym: "Reduced red-green discrimination (finding)" EXACT [SNOMEDCT_2005_07_31:246674000] +xref: ICD10CM:H53.53 +xref: ICD9CM:368.52 +xref: MSH:D003117 +xref: OMIM:303800 +xref: ORDO:319698 +xref: SNOMEDCT_US_2015_03_01:246674000 +xref: SNOMEDCT_US_2015_03_01:77479002 +xref: UMLS_CUI:C0155016 +is_a: DOID:13399 ! color blindness + +[Term] +id: DOID:1391 +name: Norum disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "lecithin acyltransferase deficiency" EXACT [CSP2005:1849-5422] +synonym: "LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY" EXACT [] +xref: ICD10CM:E78.6 +xref: MSH:D007863 +xref: NCI:C84813 +xref: OMIM:245900 +xref: SNOMEDCT_US_2015_03_01:238091006 +xref: SNOMEDCT_US_2015_03_01:49227001 +xref: UMLS_CUI:C0023195 +is_a: DOID:1387 ! hypolipoproteinemia + +[Term] +id: DOID:13910 +name: red color blindness +synonym: "Protan defect" EXACT [ICD9CM_2006:368.51] +synonym: "Protan defect (disorder)" EXACT [SNOMEDCT_2005_07_31:51445007] +synonym: "Protanopia" EXACT [MTHICD9_2006:368.51] +xref: ICD10CM:H53.54 +xref: ICD9CM:368.51 +xref: MSH:D003117 +xref: OMIM:303900 +xref: SNOMEDCT_US_2015_03_01:51445007 +xref: UMLS_CUI:C0155015 +is_a: DOID:13399 ! color blindness + +[Term] +id: DOID:13911 +name: achromatopsia +def: "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance." [url:http\://en.wikipedia.org/wiki/Achromatopsia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382, url:http\://www.sciencedirect.com/science/article/pii/S0161642009010008] +comment: No OMIM mapping, confirmed by DO. [LS]. +subset: DO_MGI_slim +synonym: "ACHM" EXACT [] +synonym: "Monochromatism" EXACT [MTHICD9_2006:368.54] +xref: ICD10CM:H53.51 +xref: ICD9CM:368.54 +xref: MSH:D003117 +xref: NCI:C84528 +xref: OMIM:216900 +xref: OMIM:262300 +xref: OMIM:613856 +xref: SNOMEDCT_US_2015_03_01:56852002 +xref: UMLS_CUI:C0152200 +is_a: DOID:13399 ! color blindness + +[Term] +id: DOID:13912 +name: acquired color blindness +synonym: "acquired color vision deficiencies" EXACT [ICD9CM_2006:368.55] +synonym: "acquired color vision deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:71676008] +xref: ICD10CM:H53.52 +xref: ICD9CM:368.55 +xref: MSH:D003117 +xref: SNOMEDCT_US_2015_03_01:71676008 +xref: UMLS_CUI:C0155018 +is_a: DOID:13399 ! color blindness + +[Term] +id: DOID:13913 +name: lumbosacral plexus lesion +synonym: "Lumbosacral plexus lesion (disorder)" EXACT [SNOMEDCT_2005_07_31:4062006] +synonym: "Lumbosacral plexus lesions" EXACT [ICD9CM_2006:353.1] +xref: ICD9CM:353.1 +xref: SNOMEDCT_US_2015_03_01:4062006 +xref: UMLS_CUI:C0154735 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:13918 +name: somatization disorder +def: "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin." [url:http\://en.wikipedia.org/wiki/Somatization_disorder] +synonym: "Briquet's disorder" EXACT [MTHICD9_2006:300.81] +synonym: "Polysomatising disorder" RELATED [SNOMEDCT_2005_07_31:397795007] +synonym: "Somatisation disorder" EXACT [SNOMEDCT_2005_07_31:192431008] +xref: ICD10CM:F45.0 +xref: ICD9CM:300.81 +xref: MSH:D013001 +xref: SNOMEDCT_US_2015_03_01:154892001 +xref: SNOMEDCT_US_2015_03_01:191743005 +xref: SNOMEDCT_US_2015_03_01:192431008 +xref: SNOMEDCT_US_2015_03_01:397795007 +xref: SNOMEDCT_US_2015_03_01:397826007 +xref: SNOMEDCT_US_2015_03_01:397923000 +xref: SNOMEDCT_US_2015_03_01:60368009 +xref: SNOMEDCT_US_2015_03_01:9514005 +xref: UMLS_CUI:C0520482 +is_a: DOID:4737 ! somatoform disorder + +[Term] +id: DOID:13919 +name: irregular astigmatism +synonym: "Irregular astigmatism (disorder)" EXACT [SNOMEDCT_2005_07_31:47099006] +xref: ICD10CM:H52.21 +xref: ICD9CM:367.22 +xref: SNOMEDCT_US_2015_03_01:47099006 +xref: UMLS_CUI:C0152194 +is_a: DOID:11782 ! astigmatism + +[Term] +id: DOID:1392 +name: pseudopapilledema +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pseudopapilledema (disorder)" EXACT [SNOMEDCT_2005_07_31:57138009] +xref: ICD9CM:377.24 +xref: MSH:C562401 +xref: OMIM:177800 +xref: SNOMEDCT_US_2015_03_01:57138009 +xref: UMLS_CUI:C0155300 +is_a: DOID:1393 ! visual pathway disease + +[Term] +id: DOID:13921 +name: bacterial esophagitis +synonym: "Bacterial Esophagitis" EXACT [NCI2004_11_17:C27106] +synonym: "Bacterial esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235601001] +xref: NCI:C27106 +xref: SNOMEDCT_US_2015_03_01:235601001 +xref: UMLS_CUI:C0341108 +is_a: DOID:11963 ! esophagitis + +[Term] +id: DOID:13922 +name: eosinophilic esophagitis +def: "An esophagitis characterized by inflammation involving eosinophils located_in esophagus." [url:http\://en.wikipedia.org/wiki/Eosinophilic_esophagitis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: EFO:0004232 +xref: ICD10CM:K20.0 +xref: ICD9CM:530.13 +xref: MSH:D057765 +xref: NCI:C27105 +xref: OMIM:610247 +xref: OMIM:613412 +xref: ORDO:73247 +xref: SNOMEDCT_US_2015_03_01:235599003 +xref: UMLS_CUI:C0341106 +is_a: DOID:11963 ! esophagitis + +[Term] +id: DOID:13923 +name: acute psychogenic paranoid psychosis +synonym: "acute paranoid reaction" EXACT [SNOMEDCT_2005_07_31:191679009] +is_obsolete: true + +[Term] +id: DOID:13924 +name: necrotizing ulcerative gingivitis +alt_id: DOID:2274 +synonym: "(Vincent's angina) or (trench mouth)" EXACT [SNOMEDCT_2005_07_31:186960006] +synonym: "acute necrotising ulcerative gingivitis" EXACT [SNOMEDCT_2005_07_31:186962003] +synonym: "acute necrotising ulcerative gingivitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:278519005] +synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [SNOMEDCT_2005_07_31:186961005] +synonym: "acute necrotising ulcerative gingivostomatitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:266145002] +synonym: "acute necrotizing ulcerative gingivitis" EXACT [] +synonym: "acute necrotizing ulcerative gingivostomatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:173599005] +synonym: "acute ulceromembranous gingivitis" EXACT [SNOMEDCT_2005_07_31:171847006] +synonym: "acute ulceromembranous gingivitis" EXACT [SNOMEDCT_2005_07_31:30896000] +synonym: "acute ulceromembranous gingivitis" EXACT [SNOMEDCT_2005_07_31:399050001] +synonym: "Angina - Vincents" EXACT [SNOMEDCT_2005_07_31:154391003, SNOMEDCT_2005_07_31:266213004] +synonym: "ANUG" EXACT [] +synonym: "early acute necrotising gingivitis" EXACT [SNOMEDCT_2005_07_31:240675006] +synonym: "Trench mouth" EXACT [SNOMEDCT_2005_07_31:266213004] +synonym: "Trench mouth" EXACT [SNOMEDCT_2005_07_31:154391003] +synonym: "Vincent angina" EXACT [] +synonym: "Vincent's Angina" EXACT [NCI2004_11_17:C34637] +synonym: "Vincent's angina" EXACT [ICD9CM_2006:101, SNOMEDCT_2005_07_31:171847006, SNOMEDCT_2005_07_31:186960006, SNOMEDCT_2005_07_31:30896000, SNOMEDCT_2005_07_31:399050001] +synonym: "Vincent's angina - pharyngitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186963008] +synonym: "Vincent's angina NOS" EXACT [SNOMEDCT_2005_07_31:186964002] +synonym: "Vincent's disease" EXACT [SNOMEDCT_2005_07_31:172697005] +synonym: "Vincent's infection, any site" EXACT [MTHICD9_2006:101] +xref: ICD10CM:A69.1 +xref: ICD9CM:101 +xref: MSH:D005892 +xref: NCI:C34637 +xref: SNOMEDCT_US_2015_03_01:154391003 +xref: SNOMEDCT_US_2015_03_01:171847006 +xref: SNOMEDCT_US_2015_03_01:172697005 +xref: SNOMEDCT_US_2015_03_01:173599005 +xref: SNOMEDCT_US_2015_03_01:186960006 +xref: SNOMEDCT_US_2015_03_01:186961005 +xref: SNOMEDCT_US_2015_03_01:186962003 +xref: SNOMEDCT_US_2015_03_01:186963008 +xref: SNOMEDCT_US_2015_03_01:186964002 +xref: SNOMEDCT_US_2015_03_01:240675006 +xref: SNOMEDCT_US_2015_03_01:266145002 +xref: SNOMEDCT_US_2015_03_01:266146001 +xref: SNOMEDCT_US_2015_03_01:266213004 +xref: SNOMEDCT_US_2015_03_01:278519005 +xref: SNOMEDCT_US_2015_03_01:30896000 +xref: SNOMEDCT_US_2015_03_01:399050001 +xref: SNOMEDCT_US_2015_03_01:707792000 +xref: UMLS_CUI:C0017575 +xref: UMLS_CUI:C1527368 +is_a: DOID:3087 ! gingivitis + +[Term] +id: DOID:13929 +name: lacrimal duct obstruction +synonym: "Blocked lacrimal canaliculus (finding)" EXACT [SNOMEDCT_2005_07_31:246865000] +synonym: "Obstruction of lacrimal canaliculus (disorder)" EXACT [SNOMEDCT_2005_07_31:416920000] +synonym: "Obstruction of lacrimal ducts (disorder)" EXACT [SNOMEDCT_2005_07_31:95769009] +xref: MSH:D007767 +xref: NCI:C34757 +xref: SNOMEDCT_US_2015_03_01:246865000 +xref: SNOMEDCT_US_2015_03_01:416920000 +xref: SNOMEDCT_US_2015_03_01:95769009 +xref: UMLS_CUI:C0022906 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:1393 +name: visual pathway disease +synonym: "visual pathway disorder" EXACT [] +xref: ICD10CM:H47.9 +xref: NCI:C35342 +xref: SNOMEDCT_US_2015_03_01:155191004 +xref: SNOMEDCT_US_2015_03_01:194037001 +xref: SNOMEDCT_US_2015_03_01:267741008 +xref: SNOMEDCT_US_2015_03_01:267744000 +xref: SNOMEDCT_US_2015_03_01:54767005 +xref: UMLS_CUI:C0155287 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:13934 +name: facial paralysis +synonym: "Facial Palsy" EXACT [NCI2004_11_17:C26769] +xref: ICD10CM:G51.0 +xref: MSH:D005158 +xref: NCI:C26769 +xref: SNOMEDCT_US_2015_03_01:155070005 +xref: SNOMEDCT_US_2015_03_01:267703001 +xref: SNOMEDCT_US_2015_03_01:280816001 +xref: SNOMEDCT_US_2015_03_01:46382007 +xref: SNOMEDCT_US_2015_03_01:79359001 +xref: SNOMEDCT_US_2015_03_01:90039006 +xref: UMLS_CUI:C0015469 +is_a: DOID:1756 ! facial nerve disease + +[Term] +id: DOID:13938 +name: amenorrhea +synonym: "absence of menstruation" EXACT [ICD9CM_2006:626.0] +synonym: "amenia" EXACT [CSP2005:4001-0006] +synonym: "AMENORRHEA" EXACT [MTH:NOCODE] +synonym: "Amenorrhea (finding)" EXACT [SNOMEDCT_2005_07_31:14302001] +synonym: "Amenorrhea NOS (finding)" EXACT [SNOMEDCT_2005_07_31:198414005] +synonym: "Amenorrhoea" EXACT [SNOMEDCT_2005_07_31:156034000] +synonym: "Amenorrhoea NOS" EXACT [SNOMEDCT_2005_07_31:156037007] +xref: ICD10CM:N91.2 +xref: ICD9CM:626.0 +xref: MSH:D000568 +xref: NCI:C61443 +xref: SNOMEDCT_US_2015_03_01:14302001 +xref: SNOMEDCT_US_2015_03_01:156034000 +xref: SNOMEDCT_US_2015_03_01:156037007 +xref: SNOMEDCT_US_2015_03_01:198414005 +xref: UMLS_CUI:C0002453 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:1394 +name: urinary schistosomiasis +def: "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." [url:http\://en.wikipedia.org/wiki/Schistosoma_haematobium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm] +subset: zoonotic_infectious_disease +synonym: "bladder Schistosomiasis" EXACT [NCI2004_11_17:C35362] +synonym: "cystitis with bilharziasis (disorder)" EXACT [SNOMEDCT_2005_07_31:53991003] +synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [SNOMEDCT_2005_07_31:187112004] +synonym: "Schistosoma haematobium infection" RELATED [] +synonym: "Schistosoma Hematobium Infection" EXACT [NCI2004_11_17:C39294] +synonym: "Schistosoma hematobium infection (disorder)" EXACT [SNOMEDCT_2005_07_31:60979006] +synonym: "Schistosoma hematobium infectious disease" EXACT [] +synonym: "Schistosomiasis due to schistosoma haematobium" EXACT [ICD9CM_2006:120.0] +synonym: "Schistosomiasis of bladder [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:197846004] +synonym: "urinary schistosomiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:236706006] +synonym: "Vesical schistosomiasis NOS" EXACT [MTHICD9_2006:120.0] +xref: ICD9CM:120.0 +xref: MSH:D012553 +xref: NCI:C35362 +xref: NCI:C39294 +xref: SNOMEDCT_US_2015_03_01:187112004 +xref: SNOMEDCT_US_2015_03_01:197846004 +xref: SNOMEDCT_US_2015_03_01:53991003 +xref: SNOMEDCT_US_2015_03_01:60979006 +xref: UMLS_CUI:C0276926 +is_a: DOID:1395 ! schistosomiasis +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:13941 +name: benign paroxysmal positional nystagmus +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "benign paroxysmal positional vertigo" EXACT [ICD9CM_2006:386.11] +xref: ICD9CM:386.11 +xref: MSH:D065635 +xref: OMIM:193007 +xref: OMIM:613106 +xref: SNOMEDCT_US_2015_03_01:111541001 +xref: SNOMEDCT_US_2015_03_01:232285008 +xref: SNOMEDCT_US_2015_03_01:267763004 +xref: UMLS_CUI:C0155502 +is_a: DOID:9847 ! peripheral vertigo + +[Term] +id: DOID:13942 +name: acute gonococcal salpingitis +synonym: "acute gonococcal salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:45377007] +synonym: "Gonococcal salpingitis, specified as acute" EXACT [ICD9CM_2006:098.17] +xref: ICD9CM:098.17 +xref: SNOMEDCT_US_2015_03_01:45377007 +xref: UMLS_CUI:C0275654 +is_a: DOID:10973 ! acute salpingitis + +[Term] +id: DOID:13943 +name: acute gonococcal prostatitis +synonym: "acute gonococcal prostatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111806005] +synonym: "Gonococcal prostatitis" EXACT [MTHICD9_2006:098.12] +synonym: "Gonococcal prostatitis (acute)" EXACT [ICD9CM_2006:098.12] +xref: ICD9CM:098.12 +xref: SNOMEDCT_US_2015_03_01:111806005 +xref: UMLS_CUI:C0153192 +is_a: DOID:14654 ! prostatitis + +[Term] +id: DOID:13945 +name: cadasil +xref: MSH:D046589 +xref: NCI:C84606 +xref: SNOMEDCT_US_2015_03_01:390723008 +xref: SNOMEDCT_US_2015_03_01:390936003 +xref: UMLS_CUI:C0751587 +is_a: DOID:10579 ! leukodystrophy + +[Term] +id: DOID:13948 +name: bladder neck obstruction +synonym: "bladder neck obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:25220001] +synonym: "bladder neck obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:399072004] +synonym: "Obstruction of bladder neck or vesicourethral orifice" EXACT [MTHICD9_2006:596.0] +xref: ICD10CM:N32.0 +xref: ICD9CM:596.0 +xref: MSH:D001748 +xref: NCI:C79541 +xref: SNOMEDCT_US_2015_03_01:155887006 +xref: SNOMEDCT_US_2015_03_01:197859007 +xref: SNOMEDCT_US_2015_03_01:25220001 +xref: SNOMEDCT_US_2015_03_01:399072004 +xref: SNOMEDCT_US_2015_03_01:416991005 +xref: UMLS_CUI:C0005694 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:13949 +name: interstitial cystitis +synonym: "ulcerative cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111409009] +xref: MSH:D018856 +xref: NCI:C27189 +xref: SNOMEDCT_US_2015_03_01:111409009 +xref: SNOMEDCT_US_2015_03_01:197834003 +xref: UMLS_CUI:C0282488 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:1395 +name: schistosomiasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001321.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis] +xref: ICD9CM:120.8 +xref: SNOMEDCT_US_2015_03_01:187116001 +xref: SNOMEDCT_US_2015_03_01:187121003 +xref: UMLS_CUI:C0029827 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:13951 +name: uterine corpus epithelioid leiomyoma +xref: NCI:C40164 +xref: UMLS_CUI:C1519850 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13953 +name: uterine corpus dissecting leiomyoma +xref: NCI:C40172 +xref: UMLS_CUI:C1519847 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13954 +name: mitotically active variant uterine corpus leiomyoma +is_obsolete: true + +[Term] +id: DOID:13955 +name: uterus interstitial leiomyoma +synonym: "Intramural leiomyoma of uterus" EXACT [ICD9CM_2006:218.1] +synonym: "Intramural leiomyoma of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:93616000] +xref: ICD10CM:D25.1 +xref: ICD9CM:218.1 +xref: SNOMEDCT_US_2015_03_01:93616000 +xref: UMLS_CUI:C0153994 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13956 +name: uterine corpus myxoid leiomyoma +xref: NCI:C40166 +xref: UMLS_CUI:C1519860 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13957 +name: uterine corpus lipoleiomyoma +xref: NCI:C40168 +xref: UMLS_CUI:C1519856 +is_a: DOID:13223 ! uterine fibroid + +[Term] +id: DOID:13958 +name: uterine corpus bizarre leiomyoma +synonym: "uterine Corpus Symplastic leiomyoma" EXACT [NCI2004_11_17:C40167] +xref: NCI:C40167 +xref: UMLS_CUI:C1519853 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:13962 +name: peripheral focal retinitis and retinochoroiditis +synonym: "Focal retinitis and retinochoroiditis, peripheral" EXACT [ICD9CM_2006:363.08] +synonym: "peripheral focal retinitis AND retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:36535003] +is_obsolete: true + +[Term] +id: DOID:13963 +name: nuclear senile cataract +synonym: "Nuclear senile cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:193589009] +synonym: "Senile nuclear cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:46129005] +synonym: "Senile nuclear sclerosis" EXACT [ICD9CM_2006:366.16] +xref: ICD9CM:366.16 +xref: SNOMEDCT_US_2015_03_01:193589009 +xref: SNOMEDCT_US_2015_03_01:46129005 +xref: UMLS_CUI:C0271166 +is_a: DOID:9669 ! senile cataract + +[Term] +id: DOID:13964 +name: Morgagni cataract +synonym: "Cataract: [hypermature] or [Morgagni]" EXACT [SNOMEDCT_2005_07_31:193591001] +synonym: "hypermature cataract" EXACT [ICD9CM_2006:366.18] +synonym: "hypermature cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:267626000] +synonym: "hypermature cataract (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:22315007] +synonym: "Morgagnian cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:264443002] +synonym: "Morgagnian cataract (finding)" EXACT [SNOMEDCT_2005_07_31:247065006] +xref: ICD9CM:366.18 +xref: SNOMEDCT_US_2015_03_01:193591001 +xref: SNOMEDCT_US_2015_03_01:22315007 +xref: SNOMEDCT_US_2015_03_01:247065006 +xref: SNOMEDCT_US_2015_03_01:264443002 +xref: SNOMEDCT_US_2015_03_01:267626000 +xref: UMLS_CUI:C0152258 +is_a: DOID:9669 ! senile cataract + +[Term] +id: DOID:13969 +name: schizo-affective type schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:1397 +name: chronic orbital inflammation +synonym: "chronic inflammation of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:44729001] +synonym: "chronic inflammation of orbit NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194011004] +synonym: "chronic inflammation of orbit, unspecified" EXACT [ICD9CM_2006:376.10] +synonym: "chronic inflammatory disorder of orbit" EXACT [ICD9CM_2006:376.1] +synonym: "Unspecified chronic inflammation of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:194007005] +xref: ICD10CM:H05.1 +xref: ICD9CM:376.1 +xref: ICD9CM:376.10 +xref: SNOMEDCT_US_2015_03_01:194007005 +xref: SNOMEDCT_US_2015_03_01:194011004 +xref: SNOMEDCT_US_2015_03_01:44729001 +xref: UMLS_CUI:C0155261 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:13970 +name: schizo-affective type schizophrenia chronic state +is_obsolete: true + +[Term] +id: DOID:13972 +name: female breast lower-outer quadrant cancer +synonym: "malignant neoplasm of lower-outer quadrant of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188155002] +xref: ICD10CM:C50.51 +xref: ICD9CM:174.5 +xref: SNOMEDCT_US_2015_03_01:188155002 +xref: UMLS_CUI:C0153553 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:13975 +name: metastatic tumor to the brain stem +synonym: "metastatic tumor to the Brainstem" EXACT [NCI2004_11_17:C8550] +is_obsolete: true + +[Term] +id: DOID:13976 +name: peptic esophagitis +synonym: "Esophagitis (& [reflux]) or esophageal reflux" EXACT [SNOMEDCT_2005_07_31:266498005] +synonym: "Esophagitis (& [reflux]) or esophageal reflux" EXACT [SNOMEDCT_2005_07_31:155673008] +synonym: "Peptic esophagitis" EXACT [MTHICD9_2006:530.1] +synonym: "Peptic reflux disease (disorder)" EXACT [SNOMEDCT_2005_07_31:57643001] +synonym: "Reflux esophagitis" EXACT [ICD9CM_2006:530.11] +synonym: "reflux esophagitis" EXACT [CSP2005:1248-5846] +synonym: "Reflux oesophagitis" EXACT [SNOMEDCT_2005_07_31:196600005] +synonym: "Reflux oesophagitis" EXACT [SNOMEDCT_2005_07_31:54856001] +xref: ICD9CM:530.11 +xref: MSH:D004942 +xref: SNOMEDCT_US_2015_03_01:155673008 +xref: SNOMEDCT_US_2015_03_01:196600005 +xref: SNOMEDCT_US_2015_03_01:266498005 +xref: SNOMEDCT_US_2015_03_01:54856001 +xref: SNOMEDCT_US_2015_03_01:57643001 +xref: UMLS_CUI:C0014869 +is_a: DOID:11963 ! esophagitis +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:13979 +name: primary pulmonary coccidioidomycosis +alt_id: DOID:13978 +def: "A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules." [url:http\://emedicine.medscape.com/article/297976-overview] +synonym: "chronic pulmonary coccidioidomycosis" EXACT [] +synonym: "desert fever" EXACT [CSP2005:1988-4353] +is_obsolete: true + +[Term] +id: DOID:1398 +name: parasitic infectious disease +alt_id: DOID:11681 +alt_id: DOID:13509 +alt_id: DOID:1396 +alt_id: DOID:1494 +alt_id: DOID:2114 +alt_id: DOID:2293 +alt_id: DOID:2922 +alt_id: DOID:3564 +alt_id: DOID:4191 +alt_id: DOID:886 +alt_id: DOID:948 +alt_id: DOID:9639 +alt_id: DOID:9644 +def: "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071] +synonym: "Ectoparasitic disease" EXACT [SNOMEDCT_2005_07_31:240876009] +synonym: "parasitemia" EXACT [] +xref: ICD10CM:H44.12 +xref: ICD9CM:360.13 +xref: NCI:C34587 +xref: SNOMEDCT_US_2015_03_01:193273005 +xref: SNOMEDCT_US_2015_03_01:57100005 +xref: UMLS_CUI:C0014238 +is_a: DOID:0050117 ! disease by infectious agent + +[Term] +id: DOID:13980 +name: coccidioidal meningitis +def: "A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus." [url:http\://emedicine.medscape.com/article/297976-overview] +is_obsolete: true + +[Term] +id: DOID:1399 +name: primary lacrimal atrophy +xref: ICD9CM:375.13 +xref: SNOMEDCT_US_2015_03_01:17093002 +xref: SNOMEDCT_US_2015_03_01:193978007 +xref: UMLS_CUI:C0155229 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:13994 +name: cleidocranial dysplasia +def: "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull." [url:http\://en.wikipedia.org/wiki/Cleidocranial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, url:http\://www.faces-cranio.org/Disord/CCD.htm, url:http\://www.healthline.com/galecontent/cleidocranial-dysplasia-1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, url:http\://www.umm.edu/ency/article/001589.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "cleidocranial dysostosis" EXACT [] +synonym: "Marie-Sainton Disease" EXACT [] +xref: ICD10CM:Q74.0 +xref: MSH:D002973 +xref: NCI:C75020 +xref: OMIM:119600 +xref: OMIM:216330 +xref: ORDO:1452 +xref: SNOMEDCT_US_2015_03_01:240193006 +xref: SNOMEDCT_US_2015_03_01:65976001 +xref: UMLS_CUI:C0008928 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:13995 +name: secondary malignant neoplasm to the small Intestine +is_obsolete: true + +[Term] +id: DOID:13996 +name: small intestine lymphoma +synonym: "small intestinal Lymphoma" EXACT [NCI2004_11_17:C4007] +xref: NCI:C4007 +xref: SNOMEDCT_US_2015_03_01:449074003 +xref: UMLS_CUI:C0278805 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:13999 +name: contact blepharoconjunctivitis +synonym: "Contact blepharoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:10813004] +xref: ICD10CM:H10.53 +xref: ICD9CM:372.22 +xref: SNOMEDCT_US_2015_03_01:10813004 +xref: SNOMEDCT_US_2015_03_01:193872007 +xref: UMLS_CUI:C0155150 +is_a: DOID:2456 ! blepharoconjunctivitis + +[Term] +id: DOID:1400 +name: lacrimal apparatus disease +xref: ICD10CM:H04 +xref: ICD10CM:H04.9 +xref: ICD9CM:375 +xref: ICD9CM:375.9 +xref: MSH:D007766 +xref: NCI:C26809 +xref: SNOMEDCT_US_2015_03_01:155181005 +xref: SNOMEDCT_US_2015_03_01:155185001 +xref: SNOMEDCT_US_2015_03_01:194003009 +xref: SNOMEDCT_US_2015_03_01:267740009 +xref: SNOMEDCT_US_2015_03_01:31053003 +xref: UMLS_CUI:C0022904 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:14000 +name: rubeosis iridis +xref: ICD10CM:H21.1 +xref: ICD9CM:364.42 +xref: SNOMEDCT_US_2015_03_01:51995000 +xref: UMLS_CUI:C0154916 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:14001 +name: diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder +synonym: "Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder" EXACT [MTHICD9_2006:250.73] +synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder" EXACT [ICD9CM_2006:250.73] +is_obsolete: true + +[Term] +id: DOID:14004 +name: thoracic aortic aneurysm +def: "An aortic aneurysm that is located_in the thoracic aorta." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm, url:http\://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: EFO:0004282 +xref: MSH:D017545 +xref: NCI:C27001 +xref: OMIM:132900 +xref: OMIM:607086 +xref: OMIM:607087 +xref: OMIM:611788 +xref: OMIM:613780 +xref: OMIM:615436 +xref: ORDO:91387 +xref: SNOMEDCT_US_2015_03_01:155421001 +xref: SNOMEDCT_US_2015_03_01:433068007 +xref: UMLS_CUI:C0162872 +is_a: DOID:3627 ! aortic aneurysm + +[Term] +id: DOID:14006 +name: splenic artery aneurysm +xref: ICD9CM:442.83 +xref: SNOMEDCT_US_2015_03_01:70405009 +xref: UMLS_CUI:C0155747 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:14018 +name: alcoholic liver cirrhosis +synonym: "Alcoholic Cirrhosis" EXACT [NCI2004_11_17:C34782] +synonym: "Alcoholic cirrhosis of liver" EXACT [ICD9CM_2006:571.2] +synonym: "Alcoholic cirrhosis of liver" EXACT [SNOMEDCT_2005_07_31:155811002] +synonym: "Alcoholic cirrhosis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:266467008] +synonym: "Alcoholic cirrhosis of liver (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:75393009] +synonym: "Laennec's cirrhosis" EXACT [SNOMEDCT_2005_07_31:197280008] +synonym: "Laennec's cirrhosis, alcoholic" EXACT [MTHICD9_2006:571.2] +synonym: "Portal Cirrhosis" EXACT [NCI2004_11_17:C35532] +synonym: "Portal cirrhosis" EXACT [SNOMEDCT_2005_07_31:197290000] +synonym: "Portal cirrhosis (disorder)" EXACT [SNOMEDCT_2005_07_31:235894003] +synonym: "Portal cirrhosis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197308000] +xref: CSP:1754-7677 +xref: ICD10CM:K70.3 +xref: ICD9CM:571.2 +xref: MSH:D008104 +xref: NCI:C34782 +xref: SNOMEDCT_US_2015_03_01:155811002 +xref: SNOMEDCT_US_2015_03_01:197280008 +xref: SNOMEDCT_US_2015_03_01:235894003 +xref: SNOMEDCT_US_2015_03_01:266467008 +xref: SNOMEDCT_US_2015_03_01:420054005 +xref: SNOMEDCT_US_2015_03_01:75393009 +xref: UMLS_CUI:C0023891 +is_a: DOID:5082 ! liver cirrhosis + +[Term] +id: DOID:14019 +name: Brucella canis brucellosis +def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/pubmed/1172954] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A23.3 +xref: ICD9CM:023.3 +xref: SNOMEDCT_US_2015_03_01:186308009 +xref: SNOMEDCT_US_2015_03_01:428174001 +xref: SNOMEDCT_US_2015_03_01:78576009 +xref: UMLS_CUI:C0494040 +is_a: DOID:11077 ! brucellosis + +[Term] +id: DOID:1402 +name: agalactia +alt_id: DOID:1401 +synonym: "Failure of lactation - delivered" EXACT [] +synonym: "Failure of lactation - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:200433004] +synonym: "Failure of lactation, with delivery, with or without mention of antepartum condition" EXACT [ICD9CM_2006:676.41] +is_obsolete: true + +[Term] +id: DOID:14021 +name: Tietze's syndrome +synonym: "Costalchondritis (disorder)" EXACT [SNOMEDCT_2005_07_31:64109004] +synonym: "Costochondral junction syndrome" EXACT [MTHICD9_2006:733.6] +synonym: "Costochondritis" EXACT [SNOMEDCT_2005_07_31:203523006] +synonym: "Costochondritis" EXACT [SNOMEDCT_2005_07_31:393606005] +synonym: "Costochondritis NOS" EXACT [SNOMEDCT_2005_07_31:203323007] +synonym: "Costochondritis NOS" EXACT [SNOMEDCT_2005_07_31:203529005] +synonym: "Costochondritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:240136001] +synonym: "Costochrondritis" EXACT [SNOMEDCT_2005_07_31:268130001] +synonym: "Costochrondritis" EXACT [SNOMEDCT_2005_07_31:156848001] +synonym: "Slipping rib syndrome" EXACT [SNOMEDCT_2005_07_31:91226007] +synonym: "Tietze syndrome" RELATED [] +synonym: "Tietze's disease" EXACT [ICD9CM_2006:733.6] +synonym: "Tietze's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:30128009] +xref: ICD10CM:M94.0 +xref: ICD9CM:733.6 +xref: MSH:D013991 +xref: SNOMEDCT_US_2015_03_01:156848001 +xref: SNOMEDCT_US_2015_03_01:203323007 +xref: SNOMEDCT_US_2015_03_01:203523006 +xref: SNOMEDCT_US_2015_03_01:203529005 +xref: SNOMEDCT_US_2015_03_01:240136001 +xref: SNOMEDCT_US_2015_03_01:268130001 +xref: SNOMEDCT_US_2015_03_01:30128009 +xref: SNOMEDCT_US_2015_03_01:393606005 +xref: SNOMEDCT_US_2015_03_01:64109004 +xref: SNOMEDCT_US_2015_03_01:91226007 +xref: UMLS_CUI:C0040213 +is_a: DOID:1222 ! cartilage disease + +[Term] +id: DOID:14022 +name: algoneurodystrophy +synonym: "Algoneurodystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:7359008] +synonym: "Algoneurodystrophy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:203496006] +xref: ICD10CM:M89.0 +xref: ICD10CM:M89.00 +xref: ICD9CM:733.7 +xref: SNOMEDCT_US_2015_03_01:203490000 +xref: SNOMEDCT_US_2015_03_01:203496006 +xref: SNOMEDCT_US_2015_03_01:7359008 +xref: UMLS_CUI:C0205930 +is_a: DOID:3223 ! complex regional pain syndrome + +[Term] +id: DOID:14026 +name: folic acid deficiency anemia +synonym: "Folate deficiency anemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191152006] +synonym: "Folate or folic acid deficiency anemia NOS" EXACT [MTHICD9_2006:281.2] +synonym: "Folate-deficiency anemia" EXACT [ICD9CM_2006:281.2] +synonym: "Folate-deficient megaloblastic anaemia" EXACT [SNOMEDCT_2005_07_31:154791000] +synonym: "Megaloblastic anemia due to folate deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:85649008] +xref: ICD10CM:D52 +xref: ICD10CM:D52.9 +xref: ICD9CM:281.2 +xref: SNOMEDCT_US_2015_03_01:154791000 +xref: SNOMEDCT_US_2015_03_01:191152006 +xref: SNOMEDCT_US_2015_03_01:85649008 +xref: UMLS_CUI:C0151482 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:14032 +name: malignant parietal pleura tumor +synonym: "primary malignant neoplasm of parietal pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:93948004] +xref: SNOMEDCT_US_2015_03_01:93948004 +xref: UMLS_CUI:C0153495 +is_a: DOID:5158 ! pleural cancer + +[Term] +id: DOID:14033 +name: malignant visceral pleura tumor +synonym: "primary malignant neoplasm of visceral pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:94140004] +xref: SNOMEDCT_US_2015_03_01:94140004 +xref: UMLS_CUI:C0153496 +is_a: DOID:5158 ! pleural cancer + +[Term] +id: DOID:14037 +name: aorta atresia +def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." [url:https\://secure.ssa.gov/poms.nsf/lnx/0423022540] +synonym: "Atresia and stenosis of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:204431007] +synonym: "Congenital atresia and stenosis of aorta" EXACT [ICD9CM_2006:747.22] +xref: ICD9CM:747.22 +xref: SNOMEDCT_US_2015_03_01:204431007 +xref: SNOMEDCT_US_2015_03_01:204438001 +xref: UMLS_CUI:C0345010 +is_a: DOID:520 ! aortic disease + +[Term] +id: DOID:14038 +name: precocious puberty +synonym: "(Sexual precocity NOS) or (puberty - precocious)" EXACT [SNOMEDCT_2005_07_31:267488008] +synonym: "(Sexual precocity NOS) or (puberty - precocious)" EXACT [SNOMEDCT_2005_07_31:154716006] +synonym: "Precocious puberty" EXACT [SNOMEDCT_2005_07_31:190575003] +synonym: "precocious puberty" EXACT [CSP2005:2586-8869] +synonym: "Precocious puberty (disorder)" EXACT [SNOMEDCT_2005_07_31:400179000] +synonym: "Precocious sexual development (disorder)" EXACT [SNOMEDCT_2005_07_31:123527003] +synonym: "Precocious true puberty" EXACT [SNOMEDCT_2005_07_31:70387004] +synonym: "Premature puberty" EXACT [SNOMEDCT_2005_07_31:190576002] +synonym: "Sexual precocity NOS" EXACT [MTHICD9_2006:259.1] +is_obsolete: true + +[Term] +id: DOID:14039 +name: POEMS syndrome +synonym: "POEMS syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:79268002] +xref: MSH:D016878 +xref: NCI:C80303 +xref: SNOMEDCT_US_2015_03_01:79268002 +xref: UMLS_CUI:C0085404 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:1404 +name: residual stage angle-closure glaucoma +synonym: "Residual stage angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:55129006] +synonym: "Residual stage of angle-closure glaucoma" EXACT [ICD9CM_2006:365.24] +xref: ICD10CM:H40.24 +xref: ICD9CM:365.24 +xref: SNOMEDCT_US_2015_03_01:55129006 +xref: UMLS_CUI:C0154948 +is_a: DOID:1405 ! primary angle-closure glaucoma + +[Term] +id: DOID:14040 +name: autoimmune polyendocrine syndrome +def: "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." [sn:IEDB] +synonym: "autoimmune polyendocrinopathy" EXACT [] +synonym: "Autoimmune polyglandular failure" EXACT [SNOMEDCT_2005_07_31:190568004] +synonym: "Lloyd's syndrome" EXACT [MTHICD9_2006:258.1] +synonym: "Lloyd's syndrome" EXACT [SNOMEDCT_2005_07_31:18947001] +synonym: "Lloyd's syndrome" EXACT [SNOMEDCT_2005_07_31:190567009] +xref: ICD10CM:E31.0 +xref: MSH:D016884 +xref: NCI:C84576 +xref: SNOMEDCT_US_2015_03_01:18947001 +xref: SNOMEDCT_US_2015_03_01:190567009 +xref: SNOMEDCT_US_2015_03_01:190568004 +xref: SNOMEDCT_US_2015_03_01:41864002 +xref: UMLS_CUI:C0085409 +is_a: DOID:0060005 ! autoimmune disease of endocrine system + +[Term] +id: DOID:14041 +name: endocrine tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:14042 +name: bipolar I disorder +def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [url:http\://en.wikipedia.org/wiki/Bipolar_I] +xref: ICD9CM:296.50 +xref: SNOMEDCT_US_2015_03_01:49468007 +xref: UMLS_CUI:C0236773 +is_a: DOID:3312 ! bipolar disorder + +[Term] +id: DOID:14043 +name: neonatal myasthenia gravis +synonym: "Neonatal Myasthenia Gravis" EXACT [MTH:NOCODE] +synonym: "Neonatal myasthenia gravis" EXACT [ICD9CM_2006:775.2] +synonym: "Neonatal myasthenia gravis (disorder)" EXACT [SNOMEDCT_2005_07_31:82178003] +xref: ICD9CM:775.2 +xref: MSH:D020941 +xref: SNOMEDCT_US_2015_03_01:82178003 +xref: UMLS_CUI:C0158982 +is_a: DOID:437 ! myasthenia gravis + +[Term] +id: DOID:14044 +name: rheumatic pericarditis +subset: gram-positive_bacterial_infectious_disease +synonym: "acute Rheumatic fever with pericarditis" EXACT [MTHICD9_2006:391.0] +synonym: "acute Rheumatic Pericarditis" EXACT [NCI2004_11_17:C35200] +synonym: "acute rheumatic pericarditis" EXACT [SNOMEDCT_2005_07_31:155267004] +synonym: "acute rheumatic pericarditis" EXACT [ICD9CM_2006:391.0] +synonym: "acute rheumatic pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:15676002] +is_obsolete: true + +[Term] +id: DOID:14045 +name: syndrome of infant of a diabetic mother +synonym: "Infant of a diabetic mother syndrome" EXACT [SNOMEDCT_2005_07_31:157144007] +synonym: "syndrome of infant of diabetic mother (disorder)" EXACT [SNOMEDCT_2005_07_31:21584002] +is_obsolete: true + +[Term] +id: DOID:14049 +name: phaeohyphomycosis +def: "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals." [url:http\://www.doctorfungus.org/mycoses/human/other/phaeohyphomycosis.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Phaeohyphomycosis/, url:http\://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract] +synonym: "Infection by dematiacious fungi" EXACT [MTHICD9_2006:117.8] +synonym: "Infection by dematiacious fungi [Phaehyphomycosis]" EXACT [ICD9CM_2006:117.8] +synonym: "phaehyphomycosis" EXACT [] +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:1405 +name: primary angle-closure glaucoma +synonym: "primary Angle Closure Glaucoma" EXACT [NCI2004_11_17:C34640] +synonym: "primary angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:270882001] +synonym: "primary angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:392288006] +synonym: "primary angle-closure glaucoma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193547001] +synonym: "primary angle-closure glaucoma, NOS" EXACT [SNOMEDCT_2005_07_31:42456004] +synonym: "primary angle-closure glaucoma, unspecified" EXACT [ICD9CM_2006:365.20] +synonym: "Unspecified primary angle-closure glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:193545009] +xref: ICD10CM:H40.2 +xref: ICD10CM:H40.20 +xref: ICD9CM:365.2 +xref: ICD9CM:365.20 +xref: NCI:C34640 +xref: SNOMEDCT_US_2015_03_01:155123006 +xref: SNOMEDCT_US_2015_03_01:193544008 +xref: SNOMEDCT_US_2015_03_01:193545009 +xref: SNOMEDCT_US_2015_03_01:193547001 +xref: SNOMEDCT_US_2015_03_01:270882001 +xref: SNOMEDCT_US_2015_03_01:392288006 +xref: SNOMEDCT_US_2015_03_01:42456004 +xref: UMLS_CUI:C0017606 +is_a: DOID:13550 ! angle-closure glaucoma + +[Term] +id: DOID:14056 +name: rheumatic endocarditis +alt_id: DOID:14057 +subset: gram-positive_bacterial_infectious_disease +synonym: "acute Rheumatic Endocarditis" EXACT [NCI2004_11_17:C35201] +synonym: "acute rheumatic endocarditis" EXACT [ICD9CM_2006:391.1] +synonym: "acute rheumatic endocarditis" EXACT [SNOMEDCT_2005_07_31:155268009] +synonym: "acute rheumatic endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:18192007] +synonym: "Endocarditis-RH chronic" EXACT [SNOMEDCT_2005_07_31:266284004] +synonym: "Rheumatic disease of endocardium, valve unspecified" EXACT [ICD9CM_2006:397.9] +synonym: "rheumatic endocarditis" EXACT [CSP2005:1393-3487] +synonym: "Rheumatic endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:48872007] +synonym: "Rheumatic endocarditis NOS" EXACT [SNOMEDCT_2005_07_31:194748000] +synonym: "Rheumatic endocarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266227009] +is_obsolete: true + +[Term] +id: DOID:14059 +name: paraurethral gland cancer +synonym: "malignant tumor of paraurethral gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363460002] +synonym: "malignant tumor of the Paraurethral gland" EXACT [NCI2004_11_17:C3561] +xref: ICD10CM:C68.1 +xref: ICD9CM:189.4 +xref: SNOMEDCT_US_2015_03_01:363460002 +xref: SNOMEDCT_US_2015_03_01:93944002 +xref: UMLS_CUI:C0153621 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:1406 +name: iritis +xref: MSH:D007500 +xref: NCI:C50621 +xref: SNOMEDCT_US_2015_03_01:65074000 +xref: UMLS_CUI:C0022081 +is_a: DOID:240 ! iris disease + +[Term] +id: DOID:14063 +name: acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis +is_obsolete: true + +[Term] +id: DOID:14064 +name: acute poststreptococcal glomerulonephritis +synonym: "acute post-streptococcal glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:68544003] +synonym: "Post-Streptococcal Glomerulonephritis" EXACT [NCI2004_11_17:C35443] +xref: NCI:C35443 +xref: SNOMEDCT_US_2015_03_01:68544003 +xref: UMLS_CUI:C0403414 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:14066 +name: acute diffuse nephritis +synonym: "acute Diffuse Glomerulonephritis" EXACT [NCI2004_11_17:C35587] +synonym: "acute diffuse nephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:197585004] +xref: NCI:C35587 +xref: SNOMEDCT_US_2015_03_01:197585004 +xref: UMLS_CUI:C0341689 +is_a: DOID:4781 ! diffuse glomerulonephritis + +[Term] +id: DOID:14067 +name: Plasmodium falciparum malaria +def: "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria] +synonym: "Falciparum Malaria" EXACT [NCI2004_11_17:C34798] +synonym: "Falciparum malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:62676009] +synonym: "Falciparum malaria [malignant tertian]" EXACT [ICD9CM_2006:084.0] +synonym: "Malaria fever, subtertian" EXACT [MTHICD9_2006:084.0] +synonym: "malignant tertian fever (finding)" EXACT [SNOMEDCT_2005_07_31:248441000] +synonym: "Plasmodium falciparum malaria, unspecified" EXACT [SNOMEDCT_2005_07_31:186802002] +synonym: "Plasmodium falciparum malaria, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187504004] +xref: ICD10CM:B50 +xref: ICD10CM:B50.9 +xref: ICD9CM:084.0 +xref: MSH:D016778 +xref: NCI:C34798 +xref: SNOMEDCT_US_2015_03_01:186802002 +xref: SNOMEDCT_US_2015_03_01:187504004 +xref: SNOMEDCT_US_2015_03_01:248441000 +xref: SNOMEDCT_US_2015_03_01:62676009 +xref: UMLS_CUI:C0024535 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:14068 +name: blackwater fever +def: "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." [url:http\://en.wikipedia.org/wiki/Blackwater_fever, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever] +synonym: "Black water fever (disorder)" EXACT [SNOMEDCT_2005_07_31:56625005] +synonym: "Blackwater fever" EXACT [ICD9CM_2006:084.8] +synonym: "Hemoglobinuric, malaria" EXACT [MTHICD9_2006:084.8] +synonym: "Malarial Hemoglobinuria" EXACT [NCI2004_11_17:C34426] +xref: ICD9CM:084.8 +xref: MSH:D001742 +xref: NCI:C34426 +xref: SNOMEDCT_US_2015_03_01:56625005 +xref: UMLS_CUI:C0005681 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:14069 +name: cerebral malaria +def: "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species." [url:http\://en.wikipedia.org/wiki/Malaria] +synonym: "Cerebral malaria" EXACT [MTHICD9_2006:084.9] +synonym: "Cerebral malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:53622003] +synonym: "Malarial encephalitis" EXACT [SNOMEDCT_2005_07_31:186799006] +xref: ICD10CM:B50.0 +xref: MSH:D016779 +xref: SNOMEDCT_US_2015_03_01:186799006 +xref: SNOMEDCT_US_2015_03_01:53622003 +xref: UMLS_CUI:C0024534 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:1407 +name: anterior uveitis +synonym: "Anterior uveitis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:231946008] +synonym: "Anterior uveitis, NOS" EXACT [SNOMEDCT_2005_07_31:77971008] +xref: CSP:1114-9593 +xref: MSH:D014606 +xref: NCI:C35109 +xref: SNOMEDCT_US_2015_03_01:193500005 +xref: SNOMEDCT_US_2015_03_01:231946008 +xref: SNOMEDCT_US_2015_03_01:410692006 +xref: SNOMEDCT_US_2015_03_01:77971008 +xref: UMLS_CUI:C0042165 +is_a: DOID:12030 ! panuveitis + +[Term] +id: DOID:14070 +name: vestibular nystagmus +synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [ICD9CM_2006:379.54] +synonym: "Nystagmus associated with disorder of the vestibular system (disorder)" EXACT [SNOMEDCT_2005_07_31:46888001] +xref: ICD9CM:379.54 +xref: SNOMEDCT_US_2015_03_01:46888001 +xref: UMLS_CUI:C0155379 +is_a: DOID:1242 ! globe disease + +[Term] +id: DOID:14072 +name: neoplastic pregnancy complications +is_obsolete: true + +[Term] +id: DOID:14075 +name: geniculate ganglionitis +synonym: "Geniculate ganglionitis" EXACT [SNOMEDCT_2005_07_31:267704007] +synonym: "Geniculate ganglionitis" EXACT [SNOMEDCT_2005_07_31:155071009] +synonym: "Geniculate ganglionitis" EXACT [ICD9CM_2006:351.1] +synonym: "Geniculate ganglionitis (disorder)" EXACT [SNOMEDCT_2005_07_31:72839009] +synonym: "Geniculate ganglionitis NOS" EXACT [MTHICD9_2006:351.1] +xref: ICD10CM:G51.1 +xref: ICD9CM:351.1 +xref: MSH:D005155 +xref: SNOMEDCT_US_2015_03_01:155071009 +xref: SNOMEDCT_US_2015_03_01:267704007 +xref: SNOMEDCT_US_2015_03_01:72839009 +xref: UMLS_CUI:C0017407 +is_a: DOID:1756 ! facial nerve disease + +[Term] +id: DOID:14080 +name: glucocorticoid-remediable aldosteronism +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E26.02 +xref: ICD9CM:255.11 +xref: MSH:C563177 +xref: OMIM:103900 +xref: SNOMEDCT_US_2015_03_01:237743003 +xref: UMLS_CUI:C1260386 +is_a: DOID:446 ! hyperaldosteronism + +[Term] +id: DOID:14081 +name: toxic labyrinthitis +def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." [url:http\://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/16448876] +synonym: "Toxic labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:3344003] +xref: ICD9CM:386.34 +xref: SNOMEDCT_US_2015_03_01:3344003 +xref: UMLS_CUI:C0155507 +is_a: DOID:1468 ! labyrinthitis + +[Term] +id: DOID:14087 +name: epicondylitis +alt_id: DOID:14162 +def: "A bone inflammation disease that results_in inflammation located_in epicondyle." [url:http\://en.wikipedia.org/wiki/Epicondylitis] +synonym: "andrel epicondylitis" EXACT [] +synonym: "archer's elbow" EXACT [] +synonym: "golfer's elbow" EXACT [] +synonym: "hockey elbow" EXACT [] +synonym: "Lateral epicondylitis" EXACT [ICD9CM_2006:726.32] +synonym: "medial epicondylitis" EXACT [] +synonym: "shooter's elbow" RELATED [] +synonym: "tennis elbow" RELATED [] +xref: ICD10CM:M77.1 +xref: ICD9CM:726.32 +xref: MSH:D013716 +xref: NCI:C34589 +xref: NCI:C35067 +xref: SNOMEDCT_US_2015_03_01:156659008 +xref: SNOMEDCT_US_2015_03_01:202855006 +xref: SNOMEDCT_US_2015_03_01:24133009 +xref: SNOMEDCT_US_2015_03_01:268088003 +xref: SNOMEDCT_US_2015_03_01:73583000 +xref: UMLS_CUI:C0014488 +xref: UMLS_CUI:C0039516 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:14089 +name: root caries +synonym: "Cementum caries (disorder)" EXACT [SNOMEDCT_2005_07_31:30512007] +synonym: "Dental caries of root surface" EXACT [ICD9CM_2006:521.08] +synonym: "Root caries" EXACT [SNOMEDCT_2005_07_31:234975001] +xref: ICD9CM:521.08 +xref: MSH:D017213 +xref: SNOMEDCT_US_2015_03_01:234975001 +xref: SNOMEDCT_US_2015_03_01:30512007 +xref: UMLS_CUI:C0162644 +is_a: DOID:216 ! dental caries + +[Term] +id: DOID:14090 +name: heartwater disease +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "Heartwater (disorder)" EXACT [SNOMEDCT_2005_07_31:73896008] +is_obsolete: true + +[Term] +id: DOID:14092 +name: renal artery atheroma +synonym: "Atherosclerosis of renal artery" EXACT [ICD9CM_2006:440.1] +synonym: "Atherosclerosis of renal artery (disorder)" EXACT [SNOMEDCT_2005_07_31:45281005] +synonym: "renal atherosclerosis" EXACT [SNOMEDCT_2005_07_31:155416004] +xref: ICD10CM:I70.1 +xref: ICD9CM:440.1 +xref: SNOMEDCT_US_2015_03_01:155416004 +xref: SNOMEDCT_US_2015_03_01:45281005 +xref: UMLS_CUI:C0155734 +is_a: DOID:2388 ! renal artery disease + +[Term] +id: DOID:14095 +name: boutonneuse fever +alt_id: DOID:0050039 +alt_id: DOID:0050040 +alt_id: DOID:0050044 +alt_id: DOID:0050045 +def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [url:http\://en.wikipedia.org/wiki/Boutonneuse_fever, url:http\://www.cdc.gov/otherspottedfever/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "african tick typhus" EXACT [] +synonym: "African tick typhus (disorder)" EXACT [SNOMEDCT_2005_07_31:266118003] +synonym: "Boutonneuse disease" RELATED [] +synonym: "Conor and Bruch's disease" RELATED [] +synonym: "Kenya fever" RELATED [] +synonym: "kenya tick typhus" EXACT [] +synonym: "Kenyan tick typhus" RELATED [SNOMEDCT_2005_07_31:186774005] +synonym: "marseilles fever" EXACT [] +synonym: "Mediterranean spotted fever" RELATED [] +synonym: "Mediterranean tick fever" RELATED [] +synonym: "Rickettsia conorii spotted fever" EXACT [] +synonym: "South African tick-bite fever (disorder)" EXACT [SNOMEDCT_2005_07_31:415561000] +xref: ICD10CM:A77.1 +xref: ICD9CM:082.1 +xref: MSH:D001907 +xref: SNOMEDCT_US_2015_03_01:186774005 +xref: SNOMEDCT_US_2015_03_01:186778008 +xref: SNOMEDCT_US_2015_03_01:186779000 +xref: SNOMEDCT_US_2015_03_01:186780002 +xref: SNOMEDCT_US_2015_03_01:414658000 +xref: SNOMEDCT_US_2015_03_01:59742009 +xref: UMLS_CUI:C0006060 +is_a: DOID:11104 ! spotted fever + +[Term] +id: DOID:14096 +name: infertility due to extratesticular cause +synonym: "Infertility due to extratesticular cause (disorder)" EXACT [SNOMEDCT_2005_07_31:84245004] +synonym: "Infertility due to extratesticular cause NOS (finding)" EXACT [SNOMEDCT_2005_07_31:198017007] +synonym: "Infertility due to extratesticular causes" EXACT [ICD9CM_2006:606.8] +xref: ICD9CM:606.8 +xref: SNOMEDCT_US_2015_03_01:198011008 +xref: SNOMEDCT_US_2015_03_01:198017007 +xref: SNOMEDCT_US_2015_03_01:84245004 +xref: UMLS_CUI:C0021360 +is_a: DOID:12336 ! male infertility + +[Term] +id: DOID:14099 +name: acquired gastric outlet stenosis +synonym: "acquired hypertrophic pyloric stenosis" EXACT [ICD9CM_2006:537.0] +synonym: "adult hypertrophic pyloric stenosis" EXACT [SNOMEDCT_2005_07_31:155725009] +xref: ICD9CM:537.0 +xref: SNOMEDCT_US_2015_03_01:13483000 +xref: UMLS_CUI:C0700588 +is_a: DOID:12639 ! pyloric stenosis + +[Term] +id: DOID:14107 +name: De Quervain disease +synonym: "Radial styloid tenosynovitis" EXACT [ICD9CM_2006:727.04] +synonym: "Tenosynovitis, de Quervain's" EXACT [SNOMEDCT_2005_07_31:156670001] +xref: ICD10CM:M65.4 +xref: ICD9CM:727.04 +xref: MSH:D053684 +xref: SNOMEDCT_US_2015_03_01:123249005 +xref: SNOMEDCT_US_2015_03_01:154666006 +xref: SNOMEDCT_US_2015_03_01:156670001 +xref: SNOMEDCT_US_2015_03_01:190296009 +xref: SNOMEDCT_US_2015_03_01:202905002 +xref: SNOMEDCT_US_2015_03_01:21794005 +xref: SNOMEDCT_US_2015_03_01:268094006 +xref: UMLS_CUI:C0149870 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:14108 +name: syphilitic peritonitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:14110 +name: anus cancer +alt_id: DOID:12240 +def: "A large intestine cancer that is located_in the anus." [url:http\://en.wikipedia.org/wiki/Anus] +synonym: "anal cancer" EXACT [] +synonym: "malignant anal tumor" EXACT [NCI2004_11_17:C7379] +xref: ICD10CM:C21.0 +xref: ICD10CM:C21.1 +xref: ICD9CM:154.2 +xref: ICD9CM:154.3 +xref: NCI:C7379 +xref: SNOMEDCT_US_2015_03_01:187762000 +xref: SNOMEDCT_US_2015_03_01:187764004 +xref: SNOMEDCT_US_2015_03_01:363352004 +xref: SNOMEDCT_US_2015_03_01:363490009 +xref: SNOMEDCT_US_2015_03_01:93669004 +xref: SNOMEDCT_US_2015_03_01:93676009 +xref: UMLS_CUI:C0153445 +xref: UMLS_CUI:C0153446 +is_a: DOID:5672 ! large intestine cancer + +[Term] +id: DOID:14111 +name: median rhomboid glossitis +synonym: "Persistent tuberculum impar (disorder)" EXACT [SNOMEDCT_2005_07_31:7522008] +xref: ICD10CM:K14.2 +xref: ICD9CM:529.2 +xref: SNOMEDCT_US_2015_03_01:7522008 +xref: UMLS_CUI:C0155963 +is_a: DOID:1456 ! glossitis + +[Term] +id: DOID:14114 +name: congenital adhesion of tongue +synonym: "adhesions,tongue-congenital" EXACT [SNOMEDCT_2005_07_31:268322005] +synonym: "Congenital adhesions of tongue" EXACT [ICD9CM_2006:750.12] +synonym: "Congenital adhesions of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:703000] +is_obsolete: true + +[Term] +id: DOID:14115 +name: toxic shock syndrome +def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." [url:http\://emedicine.medscape.com/article/169177-overview, url:http\://en.wikipedia.org/wiki/Toxic_shock_syndrome] +subset: gram-positive_bacterial_infectious_disease +synonym: "toxic shock" EXACT [] +synonym: "Toxic Shock syndrome" EXACT [NCI2004_11_17:C35498] +synonym: "Toxic shock syndrome" EXACT [ICD9CM_2006:040.82] +synonym: "Toxic shock syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:18504008] +synonym: "TSS" EXACT [CSP2005:0368-3426] +xref: ICD10CM:A48.3 +xref: ICD9CM:040.82 +xref: MSH:D012772 +xref: NCI:C35498 +xref: SNOMEDCT_US_2015_03_01:18504008 +xref: UMLS_CUI:C0600327 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:14116 +name: multiple symmetric lipomatosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cervical Symmetrical Lipomatosis" EXACT [NCI2004_11_17:C4392] +synonym: "Launois-Bensaude's lipomatosis" EXACT [MTHICD9_2006:272.8] +synonym: "LIPODYSTROPHY, CEPHALOTHORACIC" EXACT [] +synonym: "LIPOMATOSIS, FAMILIAL BENIGN CERVICAL" EXACT [] +synonym: "Madelung's neck" EXACT [] +synonym: "Multiple symmetric lipomatosis" EXACT [SNOMEDCT_2005_07_31:254832003] +xref: MSH:D008069 +xref: NCI:C4392 +xref: OMIM:151800 +xref: SNOMEDCT_US_2015_03_01:63365006 +xref: UMLS_CUI:C0024445 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:14117 +name: group A hyperlipidemia +synonym: "hyperlipidemia, group A (disorder)" EXACT [SNOMEDCT_2005_07_31:190774002] +synonym: "LDL hyperlipoproteinemia" EXACT [MTHICD9_2006:272.0] +synonym: "Pure hypercholesterolaemia" EXACT [SNOMEDCT_2005_07_31:154740003] +synonym: "Pure hypercholesterolaemia" EXACT [SNOMEDCT_2005_07_31:190772003] +synonym: "Pure hypercholesterolaemia" EXACT [SNOMEDCT_2005_07_31:267500001] +synonym: "Pure hypercholesterolemia" EXACT [ICD9CM_2006:272.0] +synonym: "Pure hypercholesterolemia (disorder)" EXACT [SNOMEDCT_2005_07_31:267432004] +synonym: "Pure hypercholesterolemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190778004] +is_obsolete: true + +[Term] +id: DOID:14118 +name: familial lipoprotein lipase deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hyperchylomicronemia (disorder)" EXACT [SNOMEDCT_2005_07_31:267435002] +synonym: "familial hyperlipoproteinemia type I" EXACT [CSP2005:1849-4577] +synonym: "familial lipoprotein lipase deficiency (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:34171006] +synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [SNOMEDCT_2005_07_31:403827000] +synonym: "familial LPL deficiency" EXACT [SNOMEDCT_2005_07_31:238039006] +synonym: "Fredrickson type I hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:238086005] +synonym: "Fredrickson type I lipaemia" EXACT [SNOMEDCT_2005_07_31:190781009] +synonym: "hypercholesterinaemic xanthomatosis" EXACT [SNOMEDCT_2005_07_31:275598004] +synonym: "hyperchylomicronemia" EXACT [ICD9CM_2006:272.3] +synonym: "mixed hyperglyceridemia" EXACT [MTHICD9_2006:272.3] +xref: ICD10CM:E78.3 +xref: ICD9CM:272.3 +xref: MSH:D008072 +xref: NCI:C84771 +xref: OMIM:238600 +xref: SNOMEDCT_US_2015_03_01:190781009 +xref: SNOMEDCT_US_2015_03_01:238039006 +xref: SNOMEDCT_US_2015_03_01:238086005 +xref: SNOMEDCT_US_2015_03_01:267435002 +xref: SNOMEDCT_US_2015_03_01:275598004 +xref: SNOMEDCT_US_2015_03_01:34171006 +xref: SNOMEDCT_US_2015_03_01:403827000 +xref: UMLS_CUI:C0023817 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:1412 +name: bacteriuria +def: "A urinary system disease which consists of the presence of bacteria in urine." [url:http\://en.wikipedia.org/wiki/Bacteriuria] +xref: CSP:3045-9976 +xref: HP:0012461 +xref: MEDDRA:10004056 +xref: MSH:D001437 +xref: SNOMEDCT_US_2015_03_01:61373006 +xref: UMLS_CUI:C0004659 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:14121 +name: blue toe syndrome +xref: MSH:D018438 +xref: UMLS_CUI:C0242645 +is_a: DOID:1461 ! cholesterol embolism + +[Term] +id: DOID:14125 +name: abducens nerve neoplasm +synonym: "neoplasm of abducens nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126972009] +synonym: "VIth Cranial nerve tumors" EXACT [NCI2004_11_17:C5826] +xref: NCI:C5826 +xref: SNOMEDCT_US_2015_03_01:126972009 +xref: UMLS_CUI:C1263898 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:14130 +name: lateral cystocele +xref: ICD10CM:N81.12 +xref: ICD9CM:618.02 +xref: SNOMEDCT_US_2015_03_01:441891001 +xref: UMLS_CUI:C2711750 +is_a: DOID:1284 ! prolapse of female genital organ + +[Term] +id: DOID:14131 +name: midline cystocele +xref: ICD10CM:N81.11 +xref: ICD9CM:618.01 +xref: SNOMEDCT_US_2015_03_01:423633003 +xref: UMLS_CUI:C1456248 +is_a: DOID:1284 ! prolapse of female genital organ + +[Term] +id: DOID:14133 +name: Masters-Allen syndrome +synonym: "Broad ligament laceration syndrome" EXACT [ICD9CM_2006:620.6] +synonym: "Broad ligament laceration syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:69186005] +xref: ICD9CM:620.6 +xref: SNOMEDCT_US_2015_03_01:69186005 +xref: UMLS_CUI:C0152079 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:14139 +name: anus lymphoma +synonym: "Lymphoma of anus" EXACT [NCI2004_11_17:C5601] +xref: NCI:C5601 +xref: UMLS_CUI:C1332268 +is_a: DOID:14110 ! anus cancer + +[Term] +id: DOID:1414 +name: ovarian dysfunction +xref: ICD9CM:256.3 +xref: ICD9CM:256.39 +xref: SNOMEDCT_US_2015_03_01:190543001 +xref: SNOMEDCT_US_2015_03_01:190548005 +xref: SNOMEDCT_US_2015_03_01:267399006 +xref: UMLS_CUI:C0029697 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:14140 +name: pulp erosion +xref: ICD9CM:521.33 +xref: UMLS_CUI:C1456163 +is_a: DOID:2498 ! tooth erosion + +[Term] +id: DOID:14145 +name: malignant anus melanoma +synonym: "anal melanoma" EXACT [NCI2004_11_17:C4639] +synonym: "malignant melanoma of anus (disorder)" EXACT [SNOMEDCT_2005_07_31:276821000] +xref: NCI:C4639 +xref: SNOMEDCT_US_2015_03_01:276821000 +xref: UMLS_CUI:C0349538 +is_a: DOID:14110 ! anus cancer + +[Term] +id: DOID:14146 +name: ureterolithiasis +synonym: "calculus of ureter" EXACT [ICD9CM_2006:592.1] +synonym: "Ureteric calculus" EXACT [SNOMEDCT_2005_07_31:155869008] +synonym: "Ureteric Stone" EXACT [NCI2004_11_17:C26902] +synonym: "Ureteric stone" EXACT [MTHICD9_2006:592.1] +synonym: "Ureteric stone (disorder)" EXACT [SNOMEDCT_2005_07_31:31054009] +synonym: "Ureterolithiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:95573009] +xref: ICD9CM:592.1 +xref: MSH:D053039 +xref: SNOMEDCT_US_2015_03_01:31054009 +xref: SNOMEDCT_US_2015_03_01:95573009 +xref: UMLS_CUI:C0041952 +is_a: DOID:1426 ! ureteral disease + +[Term] +id: DOID:1415 +name: gyrate atrophy +comment: OMIM mapping by NeuroDevNet. [LS]. +synonym: "Gyrate atrophy of the choroid and/or retina" EXACT [SNOMEDCT_2005_07_31:87126009] +synonym: "gyrate atrophy of the retina" EXACT [CSP2005:1849-9719] +synonym: "Ornithinemia with gyrate atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:314466003] +xref: MSH:D015799 +xref: NCI:C84744 +xref: OMIM:258870 +xref: SNOMEDCT_US_2015_03_01:314466003 +xref: SNOMEDCT_US_2015_03_01:314467007 +xref: SNOMEDCT_US_2015_03_01:367536002 +xref: SNOMEDCT_US_2015_03_01:87126009 +xref: UMLS_CUI:C0018425 +is_a: DOID:1417 ! choroid disease + +[Term] +id: DOID:14150 +name: spinal cord lymphoma +def: "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes." [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=583] +synonym: "Lymphoma of the Spinal Cord" EXACT [NCI2004_11_17:C5157] +synonym: "spinal cord cancer" RELATED [] +xref: NCI:C5157 +xref: UMLS_CUI:C1336044 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:14151 +name: spinal cord melanoma +synonym: "melanoma of the Spinal Cord" EXACT [NCI2004_11_17:C5158] +xref: NCI:C5158 +xref: UMLS_CUI:C1336045 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:14152 +name: spinal cord sarcoma +synonym: "sarcoma of the Spinal Cord" EXACT [NCI2004_11_17:C5152] +xref: NCI:C5152 +xref: UMLS_CUI:C1336049 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:14155 +name: acute retrobulbar neuritis +synonym: "acute retrobulbar neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:51604006] +synonym: "Retrobulbar neuritis (acute)" EXACT [ICD9CM_2006:377.32] +xref: ICD9CM:377.32 +xref: SNOMEDCT_US_2015_03_01:51604006 +xref: UMLS_CUI:C0155301 +is_a: DOID:1210 ! optic neuritis + +[Term] +id: DOID:14157 +name: malnutrition of mild degree +is_obsolete: true + +[Term] +id: DOID:14159 +name: obstructive hydrocephalus +synonym: "Obstructive hydrocephalus" EXACT [ICD9CM_2006:331.4] +synonym: "Obstructive hydrocephalus (disorder)" EXACT [SNOMEDCT_2005_07_31:230746009] +xref: ICD10CM:G91.1 +xref: ICD9CM:331.4 +xref: MSH:D006849 +xref: SNOMEDCT_US_2015_03_01:230746009 +xref: UMLS_CUI:C0549423 +is_a: DOID:10908 ! hydrocephalus + +[Term] +id: DOID:14163 +name: metastatic malignant tumor to the anus +synonym: "secondary malignant neoplasm of anus (disorder)" EXACT [SNOMEDCT_2005_07_31:94172001] +is_obsolete: true + +[Term] +id: DOID:14165 +name: bilateral hyperactive labyrinth +synonym: "Bilateral hyperactive labyrinth (disorder)" EXACT [SNOMEDCT_2005_07_31:5311007] +synonym: "hyperactive bilateral labyrinthine dysfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:194373002] +synonym: "hyperactive labyrinth, bilateral" EXACT [ICD9CM_2006:386.52] +xref: ICD9CM:386.52 +xref: SNOMEDCT_US_2015_03_01:194373002 +xref: SNOMEDCT_US_2015_03_01:5311007 +xref: UMLS_CUI:C0155516 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:1417 +name: choroid disease +synonym: "Choroid disorder" EXACT [NCI2004_11_17:C34468] +synonym: "choroid disorder" EXACT [CSP2005:1114-9583] +synonym: "Choroid disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193480005] +synonym: "Choroidal disorder" EXACT [SNOMEDCT_2005_07_31:193431000] +synonym: "Unspecified disorder of choroid" EXACT [ICD9CM_2006:363.9] +xref: ICD10CM:H31.9 +xref: ICD9CM:363.9 +xref: MSH:D015862 +xref: NCI:C34468 +xref: SNOMEDCT_US_2015_03_01:193431000 +xref: SNOMEDCT_US_2015_03_01:193480005 +xref: UMLS_CUI:C0008521 +is_a: DOID:3480 ! uveal disease + +[Term] +id: DOID:14172 +name: rheumatic congestive heart failure +synonym: "Congestive rheumatic heart failure (disorder)" EXACT [SNOMEDCT_2005_07_31:82523003] +synonym: "Rheumatic heart failure" EXACT [MTHICD9_2006:398.91] +synonym: "Rheumatic heart failure (congestive)" EXACT [ICD9CM_2006:398.91] +xref: ICD10CM:I09.81 +xref: ICD9CM:398.91 +xref: SNOMEDCT_US_2015_03_01:82523003 +xref: UMLS_CUI:C0155582 +is_a: DOID:6000 ! congestive heart failure + +[Term] +id: DOID:14174 +name: central neurocytoma +synonym: "Neurolipocytoma" EXACT [SNOMEDCT_2005_07_31:128858006] +xref: MSH:D018306 +xref: NCI:C3791 +xref: SNOMEDCT_US_2015_03_01:128858006 +xref: SNOMEDCT_US_2015_03_01:302832007 +xref: UMLS_CUI:C0206719 +is_a: DOID:3541 ! cerebral ventricle cancer + +[Term] +id: DOID:14175 +name: von Hippel-Lindau disease +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Hippel Lindau syndrome" EXACT [CSP2005:5000-0055] +synonym: "von Hippel-Lindau syndrome" EXACT [MTHICD9_2006:759.6] +synonym: "Von Hippel-Lindau syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:46659004] +synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [NCI2004_11_17:C3105] +xref: ICD10CM:Q85.8 +xref: MSH:D006623 +xref: NCI:C3105 +xref: OMIM:193300 +xref: SNOMEDCT_US_2015_03_01:46659004 +xref: UMLS_CUI:C0019562 +is_a: DOID:5241 ! hemangioblastoma + +[Term] +id: DOID:14176 +name: selective IgG deficiency disease +synonym: "Immunoglobin G subclass deficiency" EXACT [SNOMEDCT_2005_07_31:123785006] +synonym: "Selective deficiency of IgG" EXACT [MTHICD9_2006:279.03] +synonym: "Selective IgG Immunodeficiency" EXACT [NCI2004_11_17:C27142] +synonym: "Selective immunoglobulin G deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:190981001] +synonym: "Selective Immunoglobulin G Subclass deficiency" EXACT [NCI2004_11_17:C27024] +xref: ICD10CM:D80.3 +xref: MSH:D017099 +xref: NCI:C27024 +xref: NCI:C27142 +xref: SNOMEDCT_US_2015_03_01:123785006 +xref: SNOMEDCT_US_2015_03_01:190981001 +xref: UMLS_CUI:C0162539 +is_a: DOID:11702 ! dysgammaglobulinemia + +[Term] +id: DOID:14177 +name: congenital hypogammaglobulinemia +synonym: "Congenital hypogammaglobulinaemia" EXACT [SNOMEDCT_2005_07_31:190983003] +synonym: "Congenital hypogammaglobulinemia (finding)" EXACT [SNOMEDCT_2005_07_31:267460002] +xref: ICD9CM:279.04 +xref: SNOMEDCT_US_2015_03_01:190983003 +xref: SNOMEDCT_US_2015_03_01:267460002 +xref: UMLS_CUI:C1457897 +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:14178 +name: immunodeficiency with increased IgM +is_obsolete: true + +[Term] +id: DOID:14179 +name: Bruton-type agammaglobulinemia +def: "A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement." [url:http\://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300, url:http\://www.ncbi.nlm.nih.gov/gene/695?, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001307.htm, url:ttp\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [] +synonym: "Bruton's agammaglobulinaemia" EXACT [SNOMEDCT_2005_07_31:190983003] +synonym: "Bruton's Sex-Linked Agammaglobulinemia" EXACT [NCI2004_11_17:C3822] +synonym: "Bruton's type agammaglobulinemia" EXACT [MTHICD9_2006:279.04] +synonym: "BTK deficiency" EXACT [] +synonym: "X-linked agammaglobulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:65880007] +xref: ICD10CM:D80.0 +xref: MSH:C537409 +xref: NCI:C3822 +xref: OMIM:300310 +xref: OMIM:300755 +xref: ORDO:47 +xref: SNOMEDCT_US_2015_03_01:116133005 +xref: SNOMEDCT_US_2015_03_01:190983003 +xref: SNOMEDCT_US_2015_03_01:65880007 +xref: UMLS_CUI:C0221026 +is_a: DOID:2583 ! agammaglobulinemia + +[Term] +id: DOID:14181 +name: calcific tendinitis +xref: ICD10CM:M75.3 +xref: ICD9CM:726.11 +xref: SNOMEDCT_US_2015_03_01:239957000 +xref: SNOMEDCT_US_2015_03_01:27741009 +xref: SNOMEDCT_US_2015_03_01:699942000 +xref: UMLS_CUI:C0158303 +is_a: DOID:971 ! tendinitis + +[Term] +id: DOID:14182 +name: metastatic tumor to the choroid +is_obsolete: true + +[Term] +id: DOID:14183 +name: alcoholic neuropathy +synonym: "Alcohol-related polyneuropathy" EXACT [SNOMEDCT_2005_07_31:155083006] +synonym: "Alcoholic polyneuropathy" EXACT [ICD9CM_2006:357.5] +xref: ICD10CM:G62.1 +xref: ICD9CM:357.5 +xref: MSH:D020269 +xref: NCI:C26926 +xref: SNOMEDCT_US_2015_03_01:123050003 +xref: SNOMEDCT_US_2015_03_01:155083006 +xref: SNOMEDCT_US_2015_03_01:7916009 +xref: UMLS_CUI:C0085677 +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:14184 +name: polyneuropathy due to drug +xref: ICD10CM:G62.0 +xref: ICD9CM:357.6 +xref: SNOMEDCT_US_2015_03_01:7339009 +xref: UMLS_CUI:C0154762 +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:14188 +name: frozen shoulder +synonym: "adhesions-capsulitis,shoulder" EXACT [SNOMEDCT_2005_07_31:156658000] +synonym: "Adhesive capsulitis of shoulder" EXACT [ICD9CM_2006:726.0] +xref: ICD10CM:M75.0 +xref: ICD9CM:726.0 +xref: MSH:D002062 +xref: SNOMEDCT_US_2015_03_01:156658000 +xref: SNOMEDCT_US_2015_03_01:156664007 +xref: SNOMEDCT_US_2015_03_01:202837002 +xref: SNOMEDCT_US_2015_03_01:202847004 +xref: SNOMEDCT_US_2015_03_01:268087008 +xref: SNOMEDCT_US_2015_03_01:399114005 +xref: SNOMEDCT_US_2015_03_01:8753005 +xref: UMLS_CUI:C0311223 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:1419 +name: residual schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:14190 +name: shared paranoid disease +synonym: "Induced psychotic disorder" EXACT [SNOMEDCT_2005_07_31:61831009] +synonym: "Shared paranoid disorder" EXACT [SNOMEDCT_2005_07_31:191670008] +synonym: "Shared psychotic disorder" EXACT [ICD9CM_2006:297.3] +is_obsolete: true + +[Term] +id: DOID:14191 +name: simple paranoid state +synonym: "Paranoid state, simple" EXACT [ICD9CM_2006:297.0] +is_obsolete: true + +[Term] +id: DOID:14192 +name: bicipital tenosynovitis +xref: ICD9CM:726.12 +xref: SNOMEDCT_US_2015_03_01:202840002 +xref: SNOMEDCT_US_2015_03_01:41137001 +xref: UMLS_CUI:C0158304 +is_a: DOID:970 ! tenosynovitis + +[Term] +id: DOID:14199 +name: posterior dislocation of lens +synonym: "Posterior dislocation of lens (disorder)" EXACT [SNOMEDCT_2005_07_31:14169000] +xref: ICD10CM:H27.13 +xref: ICD9CM:379.34 +xref: SNOMEDCT_US_2015_03_01:14169000 +xref: SNOMEDCT_US_2015_03_01:194161005 +xref: UMLS_CUI:C0155373 +is_a: DOID:1242 ! globe disease + +[Term] +id: DOID:14200 +name: diplopia +synonym: "diplopia" EXACT [CSP2005:1114-9612] +synonym: "Diplopia (disorder)" EXACT [SNOMEDCT_2005_07_31:24982008] +synonym: "Double vision" EXACT [MTHICD9_2006:368.2] +is_obsolete: true + +[Term] +id: DOID:14202 +name: adult dermatomyositis +synonym: "adult onset dermatomyositis (disorder)" EXACT [SNOMEDCT_2005_07_31:402425006] +is_a: DOID:10223 ! dermatomyositis + +[Term] +id: DOID:14203 +name: childhood type dermatomyositis +synonym: "childhood Dermatomyositis" EXACT [NCI2004_11_17:C27576] +synonym: "childhood type dermatomyositis (disorder)" EXACT [SNOMEDCT_2005_07_31:1212005] +synonym: "Juvenile dermatomyositis" EXACT [SNOMEDCT_2005_07_31:201446001] +xref: MSH:D003882 +xref: NCI:C27576 +xref: SNOMEDCT_US_2015_03_01:1212005 +xref: UMLS_CUI:C0263666 +is_a: DOID:10223 ! dermatomyositis + +[Term] +id: DOID:14213 +name: hypophosphatasia +alt_id: DOID:14763 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "childhood hypophosphatasia (disorder)" EXACT [SNOMEDCT_2005_07_31:30174008] +synonym: "deficiency of alkaline phosphatase (disorder)" EXACT [SNOMEDCT_2005_07_31:360792001] +synonym: "deficiency of alkaline phosphatase (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:124431003] +synonym: "hypophospatasia, childhood" EXACT [] +xref: ICD10CM:E83.39 +xref: MSH:C562440 +xref: MSH:D007014 +xref: NCI:C26798 +xref: OMIM:146300 +xref: OMIM:241500 +xref: OMIM:241510 +xref: SNOMEDCT_US_2015_03_01:124431003 +xref: SNOMEDCT_US_2015_03_01:190859005 +xref: SNOMEDCT_US_2015_03_01:30174008 +xref: SNOMEDCT_US_2015_03_01:360792001 +xref: SNOMEDCT_US_2015_03_01:70848009 +xref: UMLS_CUI:C0020630 +xref: UMLS_CUI:C0220743 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14215 +name: hyperamylasemia +is_obsolete: true + +[Term] +id: DOID:14218 +name: dihydropyrimidine dehydrogenase deficiency +def: "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine." [url:http\://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency] +synonym: "Dihydropyrimidine dehydrogenase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:238016000] +synonym: "Dihydrouracil Dehydrogenase deficiency" EXACT [NCI2004_11_17:C3964] +synonym: "familial pyrimidinaemia" EXACT [SNOMEDCT_2005_07_31:77365006] +synonym: "thymine-uracilurea " EXACT [] +xref: MSH:D054067 +xref: NCI:C3964 +xref: NCI:C84672 +xref: OMIM:274270 +xref: SNOMEDCT_US_2015_03_01:238016000 +xref: SNOMEDCT_US_2015_03_01:77365006 +xref: UMLS_CUI:C1959620 +xref: UMLS_CUI:C3495551 +is_a: DOID:653 ! purine-pyrimidine metabolic disorder + +[Term] +id: DOID:14219 +name: renal tubular acidosis +def: "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine." [url:http\://en.wikipedia.org/wiki/Renal_tubular_acidosis, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:N25.89 +xref: MSH:D000141 +xref: NCI:C28129 +xref: OMIM:179830 +xref: OMIM:267200 +xref: OMIM:602722 +xref: SNOMEDCT_US_2015_03_01:1776003 +xref: UMLS_CUI:C0001126 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:14221 +name: metabolic syndrome X +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME" EXACT [] +synonym: "Dysmetabolic syndrome X" EXACT [ICD9CM_2006:277.7] +synonym: "dysmetabolic syndrome X" EXACT [CSP2005:5003-0027] +synonym: "metabolic syndrome" EXACT [] +synonym: "Metabolic syndrome X" EXACT [SNOMEDCT_2005_07_31:190394009] +synonym: "Metabolic syndrome X (disorder)" EXACT [SNOMEDCT_2005_07_31:237602007] +xref: EFO:0000195 +xref: ICD10CM:E88.81 +xref: ICD9CM:277.7 +xref: MSH:D024821 +xref: NCI:C84442 +xref: OMIM:605552 +xref: SNOMEDCT_US_2015_03_01:190394009 +xref: SNOMEDCT_US_2015_03_01:237602007 +xref: UMLS_CUI:C0524620 +is_a: DOID:654 ! overnutrition + +[Term] +id: DOID:14223 +name: ochronosis +synonym: "Ochronosis (disorder)" EXACT [SNOMEDCT_2005_07_31:21924005] +xref: ICD10CM:E70.29 +xref: MSH:D009794 +xref: NCI:C84938 +xref: SNOMEDCT_US_2015_03_01:21924005 +xref: SNOMEDCT_US_2015_03_01:410042009 +xref: UMLS_CUI:C0028817 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:14224 +name: tracheal calcification +synonym: "Calcification of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:81089005] +xref: NCI:C35314 +xref: SNOMEDCT_US_2015_03_01:81089005 +xref: UMLS_CUI:C0264324 +is_a: DOID:3225 ! tracheal disease + +[Term] +id: DOID:14225 +name: acute frontal sinusitis +def: "A frontal sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +synonym: "acute frontal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:91038008] +xref: ICD10CM:J01.1 +xref: ICD10CM:J01.10 +xref: ICD9CM:461.1 +xref: SNOMEDCT_US_2015_03_01:155500003 +xref: SNOMEDCT_US_2015_03_01:91038008 +xref: UMLS_CUI:C0155805 +is_a: DOID:10791 ! frontal sinusitis + +[Term] +id: DOID:14227 +name: azoospermia +def: "A male infertility disease characterized by the absence of any measurable level of sperm in semen." [url:http\://en.wikipedia.org/wiki/Azoospermia, url:http\://ghr.nlm.nih.gov/glossary=azoospermia] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "spermatogenic failure" EXACT [] +xref: EFO:0000279 +xref: ICD9CM:606.0 +xref: MSH:D053713 +xref: OMIM:102530 +xref: OMIM:108420 +xref: OMIM:243060 +xref: OMIM:258150 +xref: OMIM:270960 +xref: OMIM:309120 +xref: OMIM:415000 +xref: OMIM:606766 +xref: OMIM:612997 +xref: OMIM:613957 +xref: OMIM:613958 +xref: OMIM:614822 +xref: OMIM:615081 +xref: OMIM:615413 +xref: OMIM:615841 +xref: OMIM:615842 +xref: ORDO:217034 +xref: SNOMEDCT_US_2015_03_01:145008007 +xref: SNOMEDCT_US_2015_03_01:155925000 +xref: SNOMEDCT_US_2015_03_01:167781002 +xref: SNOMEDCT_US_2015_03_01:198010009 +xref: SNOMEDCT_US_2015_03_01:425558002 +xref: SNOMEDCT_US_2015_03_01:48188009 +xref: UMLS_CUI:C0004509 +is_a: DOID:12336 ! male infertility + +[Term] +id: DOID:14228 +name: oligospermia +synonym: "Oligozoospermia (finding)" EXACT [SNOMEDCT_2005_07_31:88311004] +xref: ICD10CM:N46.1 +xref: ICD10CM:N46.11 +xref: ICD9CM:606.1 +xref: MSH:D009845 +xref: NCI:C34860 +xref: UMLS_CUI:C0028960 +is_a: DOID:12336 ! male infertility + +[Term] +id: DOID:14230 +name: scleromalacia perforans +synonym: "Scleromalacia perforans (disorder)" EXACT [SNOMEDCT_2005_07_31:26664005] +xref: ICD10CM:H15.05 +xref: ICD9CM:379.04 +xref: SNOMEDCT_US_2015_03_01:26664005 +xref: UMLS_CUI:C0155354 +is_a: DOID:11343 ! scleral disease + +[Term] +id: DOID:14233 +name: orbital cyst +synonym: "orbital cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:31021007] +synonym: "orbital cysts" EXACT [SNOMEDCT_2005_07_31:194033002] +synonym: "orbital cysts" EXACT [ICD9CM_2006:376.81] +xref: ICD10CM:H05.81 +xref: ICD9CM:376.81 +xref: SNOMEDCT_US_2015_03_01:194033002 +xref: SNOMEDCT_US_2015_03_01:31021007 +xref: UMLS_CUI:C0155285 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:14239 +name: gastrointestinal tularemia +alt_id: DOID:0050071 +def: "A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting." [url:http\://usgips.com/web/Download/LAMPS%20USCAP2003.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Enteric tularemia" EXACT [ICD9CM_2006:021.1] +synonym: "intestinal tularaemia" EXACT [SNOMEDCT_2005_07_31:186292001] +xref: ICD9CM:021.1 +xref: ICD9CM:021.8 +xref: SNOMEDCT_US_2015_03_01:111834003 +xref: SNOMEDCT_US_2015_03_01:186292001 +xref: SNOMEDCT_US_2015_03_01:186296003 +xref: SNOMEDCT_US_2015_03_01:186298002 +xref: SNOMEDCT_US_2015_03_01:186299005 +xref: SNOMEDCT_US_2015_03_01:398599000 +xref: SNOMEDCT_US_2015_03_01:62769007 +xref: UMLS_CUI:C0029835 +xref: UMLS_CUI:C0152942 +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:14243 +name: chronic perichondritis of pinna +def: "A perichondritis of auricle which is persistent and long-lasting." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] +synonym: "chronic perichondritis of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:45431004] +synonym: "chronic pinna perichondritis" EXACT [SNOMEDCT_2005_07_31:194195009] +xref: ICD9CM:380.02 +xref: SNOMEDCT_US_2015_03_01:194195009 +xref: SNOMEDCT_US_2015_03_01:45431004 +xref: UMLS_CUI:C0155391 +is_a: DOID:222 ! perichondritis of auricle + +[Term] +id: DOID:14244 +name: epiphora due to excess lacrimation +synonym: "Epiphora due to excess lacrimation (disorder)" EXACT [SNOMEDCT_2005_07_31:31788005] +xref: ICD10CM:H04.21 +xref: ICD9CM:375.21 +xref: SNOMEDCT_US_2015_03_01:193984005 +xref: SNOMEDCT_US_2015_03_01:31788005 +xref: UMLS_CUI:C0155233 +is_a: DOID:13757 ! excessive tearing + +[Term] +id: DOID:14245 +name: cystoid macular retinal degeneration +synonym: "Cystoid macular degeneration of retina" EXACT [ICD9CM_2006:362.53] +synonym: "Cystoid macular retinal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:14046000] +xref: ICD10CM:H35.35 +xref: ICD9CM:362.53 +xref: SNOMEDCT_US_2015_03_01:14046000 +xref: UMLS_CUI:C0154850 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:14247 +name: chronic purulent otitis media +def: "A suppurative otitis media which is persistent and long-lasting." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] +synonym: "chronic purulent otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:38394007] +synonym: "chronic suppurative otitis media" EXACT [SNOMEDCT_2005_07_31:155228005] +synonym: "chronic suppurative otitis media" EXACT [SNOMEDCT_2005_07_31:232253005] +synonym: "chronic suppurative otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194284006] +synonym: "Unspecified chronic suppurative otitis media" EXACT [ICD9CM_2006:382.3] +xref: ICD10CM:H66.3 +xref: ICD9CM:382.3 +xref: SNOMEDCT_US_2015_03_01:155228005 +xref: SNOMEDCT_US_2015_03_01:194284006 +xref: SNOMEDCT_US_2015_03_01:232253005 +xref: SNOMEDCT_US_2015_03_01:38394007 +xref: UMLS_CUI:C0271454 +is_a: DOID:11506 ! suppurative otitis media + +[Term] +id: DOID:14248 +name: chronic atticoantral disease +def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false] +synonym: "chronic atticoantral suppurative otitis media" EXACT [ICD9CM_2006:382.2] +synonym: "chronic atticoantral suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:41954005] +xref: ICD10CM:H66.2 +xref: ICD10CM:H66.20 +xref: ICD9CM:382.2 +xref: SNOMEDCT_US_2015_03_01:41954005 +xref: UMLS_CUI:C0155441 +is_a: DOID:14247 ! chronic purulent otitis media + +[Term] +id: DOID:1425 +name: pyoureter +synonym: "Pyoureter (disorder)" EXACT [SNOMEDCT_2005_07_31:85884009] +synonym: "Ureter abscess" EXACT [NCI2004_11_17:C35666] +xref: NCI:C35666 +xref: SNOMEDCT_US_2015_03_01:266627003 +xref: SNOMEDCT_US_2015_03_01:85884009 +xref: UMLS_CUI:C0034223 +is_a: DOID:1426 ! ureteral disease + +[Term] +id: DOID:14250 +name: Down syndrome +def: "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability." [url:http\://en.wikipedia.org/wiki/Down_syndrome, url:http\://ghr.nlm.nih.gov/condition/down-syndrome, url:http\://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, url:http\://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Complete trisomy 21 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:41040004] +synonym: "Down's syndrome" EXACT [SNOMEDCT_2005_07_31:157019002] +synonym: "Down's syndrome - trisomy 21" EXACT [SNOMEDCT_2005_07_31:205614001] +synonym: "Downs syndrome" EXACT [NCI2004_11_17:C2993] +synonym: "G Trisomy" EXACT [MTHICD9_2006:758.0] +synonym: "trisomy 21 syndrome" EXACT [CSP2005:1254-8068] +xref: ICD10CM:Q90 +xref: ICD10CM:Q90.9 +xref: ICD9CM:758.0 +xref: MSH:D004314 +xref: NCI:C101222 +xref: NCI:C2993 +xref: OMIM:190685 +xref: SNOMEDCT_US_2015_03_01:157019002 +xref: SNOMEDCT_US_2015_03_01:205614001 +xref: SNOMEDCT_US_2015_03_01:205618003 +xref: SNOMEDCT_US_2015_03_01:254263008 +xref: SNOMEDCT_US_2015_03_01:41040004 +xref: UMLS_CUI:C0013080 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:14251 +name: vitreoretinal dystrophy +synonym: "Vitreoretinal dystrophies" EXACT [ICD9CM_2006:362.73] +synonym: "Vitreoretinal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:79556007] +xref: ICD10CM:H35.51 +xref: ICD9CM:362.73 +xref: SNOMEDCT_US_2015_03_01:79556007 +xref: UMLS_CUI:C0154863 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:14252 +name: dystrophies primarily involving the retinal pigment epithelium +xref: ICD10CM:H35.54 +xref: ICD9CM:362.76 +xref: UMLS_CUI:C0154865 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:14253 +name: retinal dystrophy in systemic or cerebroretinal lipidoses +xref: ICD9CM:362.71 +xref: UMLS_CUI:C0154861 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:14256 +name: adult-onset Still's disease +def: "An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain." [url:http\://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease, url:http\://www.mayoclinic.com/health/adult-stills-disease/DS00792, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000450.htm, url:http\://www.stillsdisease.org/, url:http\://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html] +synonym: "adult onset Still's disease" EXACT [SNOMEDCT_2005_07_31:201815006] +synonym: "adult-onset Still disease" EXACT [] +xref: ICD10CM:M06.1 +xref: MSH:D016706 +xref: SNOMEDCT_US_2015_03_01:201449008 +xref: SNOMEDCT_US_2015_03_01:201815006 +xref: SNOMEDCT_US_2015_03_01:239920006 +xref: UMLS_CUI:C0085253 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:14258 +name: leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb +synonym: "Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb" EXACT [ICD9CM_2006:202.45] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188649008] +synonym: "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93149008] +is_obsolete: true + +[Term] +id: DOID:1426 +name: ureteral disease +def: "A urinary system disease that is located_in the ureter." [url:http\://www.nlm.nih.gov/medlineplus/ureteraldisorders.html] +xref: MSH:D014515 +xref: NCI:C27148 +xref: UMLS_CUI:C0041954 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:14261 +name: fragile X syndrome +def: "An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function." [url:http\://en.wikipedia.org/wiki/Fragile_X_syndrome, url:http\://omim.org/entry/300624, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "FRAGILE X MENTAL RETARDATION SYNDROME" EXACT [] +synonym: "MARKER X SYNDROME" EXACT [] +synonym: "MARTIN-BELL SYNDROME" EXACT [] +xref: ICD10CM:Q99.2 +xref: ICD9CM:759.83 +xref: MSH:D005600 +xref: NCI:C84717 +xref: OMIM:300624 +xref: SNOMEDCT_US_2015_03_01:390007001 +xref: SNOMEDCT_US_2015_03_01:613003 +xref: UMLS_CUI:C0016667 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:14262 +name: oral candidiasis +def: "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." [url:http\://en.wikipedia.org/wiki/Oral_candidiasis] +synonym: "Candidiasis of mouth" EXACT [ICD9CM_2006:112.0] +synonym: "Candidiasis of mouth (disorder)" EXACT [SNOMEDCT_2005_07_31:79740000] +synonym: "Oral moniliasis" EXACT [SNOMEDCT_2005_07_31:187006006] +synonym: "thrush" EXACT [NCI2004_11_17:C28137] +synonym: "thrush (disorder)" EXACT [CSP2005:1988-5045] +synonym: "Thrush, oral" EXACT [MTHICD9_2006:112.0] +xref: ICD10CM:B37.0 +xref: ICD10CM:B37.9 +xref: ICD9CM:112.0 +xref: MSH:D002180 +xref: NCI:C28137 +xref: SNOMEDCT_US_2015_03_01:187005005 +xref: SNOMEDCT_US_2015_03_01:187006006 +xref: SNOMEDCT_US_2015_03_01:367093001 +xref: SNOMEDCT_US_2015_03_01:78048006 +xref: SNOMEDCT_US_2015_03_01:79740000 +xref: UMLS_CUI:C0006849 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:14263 +name: fits in newborn +synonym: "Convulsions in newborn" EXACT [ICD9CM_2006:779.0] +synonym: "Convulsions in newborn" EXACT [SNOMEDCT_2005_07_31:157162003] +synonym: "Convulsions in newborn" EXACT [SNOMEDCT_2005_07_31:230436006] +synonym: "Convulsions in the newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:87476004] +synonym: "Seizures in newborn" EXACT [MTHICD9_2006:779.0] +is_obsolete: true + +[Term] +id: DOID:14264 +name: benign neonatal seizures +def: "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion." [url:http\://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy, url:http\://www.ncbi.nlm.nih.gov/books/NBK32534/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "benign familial neonatal seizures" EXACT [] +synonym: "benign neonatal convulsions" EXACT [] +xref: MSH:D020936 +xref: NCI:C84593 +xref: OMIM:121200 +xref: OMIM:121201 +xref: OMIM:269720 +xref: OMIM:615812 +xref: ORDO:1949 +xref: SNOMEDCT_US_2015_03_01:276724002 +xref: SNOMEDCT_US_2015_03_01:38281008 +xref: UMLS_CUI:C0270851 +is_a: DOID:0050702 ! neonatal period electroclinical syndrome + +[Term] +id: DOID:14265 +name: pulmonary valve insufficiency +alt_id: DOID:11210 +def: "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur." [url:http\://en.wikipedia.org/wiki/pulmonary_insufficiency] +comment: Replacing outdated UMLS CUI. +synonym: "pulmonary incompetence" EXACT [] +synonym: "pulmonary incompetence, non-rheumatic (disorder)" EXACT [SNOMEDCT_2005_07_31:194995005] +synonym: "pulmonary insufficiency following trauma and surgery" EXACT [] +synonym: "pulmonary regurg." EXACT [SNOMEDCT_2005_07_31:266299004] +synonym: "pulmonary regurg." EXACT [SNOMEDCT_2005_07_31:155348001] +synonym: "pulmonary regurgitation" EXACT [] +synonym: "Pulmonic insufficiency NOS" EXACT [MTHICD9_2006:424.3] +synonym: "Pulmonic valve regurgitation (disorder)" EXACT [SNOMEDCT_2005_07_31:91434003] +xref: MSH:D011665 +xref: NCI:C50848 +xref: NCI:C51447 +xref: NCI:C62436 +xref: SNOMEDCT_US_2015_03_01:91434003 +xref: UMLS_CUI:C0034088 +is_a: DOID:5749 ! pulmonary valve disease + +[Term] +id: DOID:14268 +name: sclerosing cholangitis +synonym: "fibrosing cholangitis" EXACT [CSP2005:5000-0057] +synonym: "Sclerosing cholangitis" EXACT [SNOMEDCT_2005_07_31:4032000] +synonym: "Sclerosing cholangitis" EXACT [MTHICD9_2006:576.1] +synonym: "Sclerosing cholangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235917005] +synonym: "Sclerosing cholangitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197443000] +xref: EFO:0004268 +xref: ICD10CM:K83.0 +xref: MSH:D015209 +xref: SNOMEDCT_US_2015_03_01:197443000 +xref: SNOMEDCT_US_2015_03_01:235917005 +xref: SNOMEDCT_US_2015_03_01:4032000 +xref: UMLS_CUI:C0008313 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:14269 +name: suppurative cholangitis +synonym: "Suppurative Cholangitis" EXACT [NCI2004_11_17:C35336] +synonym: "Suppurative cholangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69850007] +xref: ICD10CM:K83.0 +xref: NCI:C35336 +xref: SNOMEDCT_US_2015_03_01:197437002 +xref: SNOMEDCT_US_2015_03_01:69850007 +xref: UMLS_CUI:C0267924 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:1427 +name: disorder of pancreatic internal secretion +synonym: "disorder of pancreatic internal secretion (disorder)" EXACT [SNOMEDCT_2005_07_31:111560008] +synonym: "Unspecified disorder of pancreatic internal secretion" EXACT [ICD9CM_2006:251.9] +is_obsolete: true + +[Term] +id: DOID:14270 +name: ascending cholangitis +synonym: "Ascending Cholangitis" EXACT [NCI2004_11_17:C35372] +synonym: "Ascending cholangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:26918003] +xref: ICD10CM:K83.0 +xref: NCI:C35372 +xref: SNOMEDCT_US_2015_03_01:26918003 +xref: UMLS_CUI:C0311273 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:14271 +name: acute cholangitis +synonym: "acute Cholangitis" EXACT [NCI2004_11_17:C35334] +synonym: "acute cholangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:6215006] +xref: NCI:C35334 +xref: SNOMEDCT_US_2015_03_01:6215006 +xref: UMLS_CUI:C0267917 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:14272 +name: pericholangitis +synonym: "Pericholangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111373008] +xref: NCI:C34916 +xref: SNOMEDCT_US_2015_03_01:111373008 +xref: UMLS_CUI:C0031052 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:14275 +name: atrophic vulva +synonym: "atrophic vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:248861000] +synonym: "Atrophy of vulva" EXACT [ICD9CM_2006:624.1] +synonym: "Atrophy of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:198382004] +synonym: "Atrophy of vulva (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:82614005] +xref: ICD10CM:N90.5 +xref: ICD9CM:624.1 +xref: SNOMEDCT_US_2015_03_01:198382004 +xref: SNOMEDCT_US_2015_03_01:248861000 +xref: SNOMEDCT_US_2015_03_01:82614005 +xref: UMLS_CUI:C0156393 +is_a: DOID:2059 ! vulvar disease + +[Term] +id: DOID:14276 +name: shoulder impingement syndrome +synonym: "Impingement syndrome of shoulder region" EXACT [SNOMEDCT_2005_07_31:202851002] +synonym: "Impingement syndrome of shoulder region" EXACT [SNOMEDCT_2005_07_31:366831005] +synonym: "Impingement syndrome of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:239960007] +synonym: "Shoulder impingement syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:128498000] +synonym: "Subacromial impingement (disorder)" EXACT [SNOMEDCT_2005_07_31:202849001] +xref: ICD10CM:M75.4 +xref: MSH:D019534 +xref: SNOMEDCT_US_2015_03_01:128498000 +xref: SNOMEDCT_US_2015_03_01:202849001 +xref: SNOMEDCT_US_2015_03_01:202851002 +xref: SNOMEDCT_US_2015_03_01:239960007 +xref: SNOMEDCT_US_2015_03_01:366831005 +xref: UMLS_CUI:C0376685 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:14278 +name: arthropathy of the hand +synonym: "Arthropathy NOS, of the hand (disorder)" EXACT [SNOMEDCT_2005_07_31:202065001] +synonym: "Joint disorder NOS, of the hand (disorder)" EXACT [SNOMEDCT_2005_07_31:202639001] +synonym: "Unspecified disorder of hand joint" EXACT [ICD9CM_2006:719.94] +is_obsolete: true + +[Term] +id: DOID:1428 +name: endocrine pancreas disease +xref: ICD10CM:E16 +xref: ICD9CM:251 +xref: SNOMEDCT_US_2015_03_01:190427005 +xref: SNOMEDCT_US_2015_03_01:190450004 +xref: SNOMEDCT_US_2015_03_01:237574003 +xref: SNOMEDCT_US_2015_03_01:267385007 +xref: UMLS_CUI:C0154189 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:14283 +name: primary hypertrophic osteoarthropathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pachydermoperiostosis of nail" EXACT [SNOMEDCT_2005_07_31:201124000] +synonym: "Pachydermoperiostosis of nail (disorder)" EXACT [SNOMEDCT_2005_07_31:223726008] +synonym: "Pachydermoperiostosis of nail [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:239052008] +synonym: "Pachydermoperiostosis syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:88220006] +xref: ICD10CM:M89.4 +xref: MSH:D010004 +xref: NCI:C85023 +xref: OMIM:259100 +xref: SNOMEDCT_US_2015_03_01:201124000 +xref: SNOMEDCT_US_2015_03_01:223726008 +xref: SNOMEDCT_US_2015_03_01:239052008 +xref: SNOMEDCT_US_2015_03_01:88220006 +xref: UMLS_CUI:C0029411 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:14284 +name: patellofemoral pain syndrome +xref: MSH:D046788 +xref: UMLS_CUI:C0877149 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:14286 +name: neurogenic arthropathy +synonym: "Arthropathy associated with neurological disorder" EXACT [ICD9CM_2006:713.5] +synonym: "Charcot's arthropathy" EXACT [SNOMEDCT_2005_07_31:239824003] +synonym: "Charcot's joint" RELATED [SNOMEDCT_2005_07_31:156514009] +synonym: "Neuropathic arthropathy (& Charcot's)" EXACT [SNOMEDCT_2005_07_31:201734004] +xref: ICD10CM:M14.6 +xref: ICD9CM:713.5 +xref: MSH:D001177 +xref: SNOMEDCT_US_2015_03_01:156514009 +xref: SNOMEDCT_US_2015_03_01:201734004 +xref: SNOMEDCT_US_2015_03_01:239824003 +xref: SNOMEDCT_US_2015_03_01:268056006 +xref: SNOMEDCT_US_2015_03_01:359554008 +xref: SNOMEDCT_US_2015_03_01:60730005 +xref: SNOMEDCT_US_2015_03_01:67536000 +xref: SNOMEDCT_US_2015_03_01:77602000 +xref: UMLS_CUI:C0003892 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:14287 +name: brawny scleritis +synonym: "Brawny scleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:91612009] +xref: ICD10CM:H15.02 +xref: ICD9CM:379.06 +xref: SNOMEDCT_US_2015_03_01:91612009 +xref: UMLS_CUI:C0155356 +is_a: DOID:13794 ! anterior scleritis + +[Term] +id: DOID:14289 +name: Ebstein anomaly +def: "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." [url:http\://en.wikipedia.org/wiki/Ebstein_anomaly] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Ebstein's anomaly" EXACT [ICD9CM_2006:746.2] +synonym: "Ebstein's anomaly (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:1796006] +synonym: "Ebstein's anomaly of common atrioventricular valve (disorder)" EXACT [SNOMEDCT_2005_07_31:253443005] +synonym: "Ebstein's anomaly of right atrioventricular valve (disorder)" EXACT [SNOMEDCT_2005_07_31:253468007] +synonym: "Ebstein's anomaly of tricuspid valve (disorder)" EXACT [SNOMEDCT_2005_07_31:204357006] +xref: ICD10CM:Q22.5 +xref: ICD9CM:746.2 +xref: MSH:D004437 +xref: NCI:C84681 +xref: OMIM:224700 +xref: SNOMEDCT_US_2015_03_01:1796006 +xref: UMLS_CUI:C0013481 +is_a: DOID:0050826 ! tricuspid valve disease + +[Term] +id: DOID:14291 +name: LEOPARD syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [] +synonym: "Cardiocutaneous syndrome" EXACT [] +synonym: "Generalized lentiginosis (disorder)" EXACT [SNOMEDCT_2005_07_31:403537000] +synonym: "Gorlin syndrome II" EXACT [] +synonym: "Lentiginosis profusa syndrome" EXACT [] +synonym: "LEOPARD syndrome" RELATED [CSP2005:0723-1051] +synonym: "Moynahan syndrome" EXACT [] +synonym: "Multiple lentigines syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:111306001] +synonym: "Progressive cardiomyopathic lentiginosis" EXACT [] +xref: MSH:D044542 +xref: NCI:C84820 +xref: OMIM:151100 +xref: OMIM:611554 +xref: OMIM:613707 +xref: SNOMEDCT_US_2015_03_01:111306001 +xref: SNOMEDCT_US_2015_03_01:403537000 +xref: UMLS_CUI:C0175704 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14292 +name: vulvar dystrophy +synonym: "Dystrophy of vulva" EXACT [SNOMEDCT_2005_07_31:198378001] +synonym: "Dystrophy of vulva" EXACT [ICD9CM_2006:624.0] +synonym: "Dystrophy of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:51689003] +synonym: "Dystrophy of vulva NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198381006] +xref: ICD10CM:N90.4 +xref: ICD9CM:624.0 +xref: NCI:C34565 +xref: SNOMEDCT_US_2015_03_01:198378001 +xref: SNOMEDCT_US_2015_03_01:198381006 +xref: SNOMEDCT_US_2015_03_01:51689003 +xref: UMLS_CUI:C0013426 +is_a: DOID:2059 ! vulvar disease + +[Term] +id: DOID:14305 +name: tuberculous empyema +def: "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." [url:http\://erj.ersjournals.com/cgi/reprint/10/4/942, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema] +synonym: "Tuberculous Empyema" EXACT [NCI2004_11_17:C34575] +synonym: "Tuberculous empyema" EXACT [MTHICD9_2006:012.0] +synonym: "Tuberculous empyema (& pleural)" EXACT [SNOMEDCT_2005_07_31:186184002] +synonym: "Tuberculous empyema (disorder)" EXACT [SNOMEDCT_2005_07_31:14527007] +xref: MSH:D004654 +xref: NCI:C34575 +xref: SNOMEDCT_US_2015_03_01:14527007 +xref: SNOMEDCT_US_2015_03_01:186184002 +xref: UMLS_CUI:C0014014 +is_a: DOID:3798 ! pleural empyema + +[Term] +id: DOID:14308 +name: skin epithelioid hemangioma +synonym: "Angiolymphoid Cutaneous hyperplasia" EXACT [NCI2004_11_17:C7393] +synonym: "epithelioid hemangioma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:400131007] +synonym: "epithelioid hemangioma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254791004] +xref: MSH:D000796 +xref: NCI:C7393 +xref: SNOMEDCT_US_2015_03_01:254791004 +xref: SNOMEDCT_US_2015_03_01:400131007 +xref: UMLS_CUI:C0002989 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:14311 +name: Norovirus gastroenteritis +alt_id: DOID:11749 +alt_id: DOID:2330 +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm] +synonym: "calcivirus enteritis" EXACT [] +synonym: "norwalk virus enteritis" EXACT [] +synonym: "small round virus enteritis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:14312 +name: nontoxic uninodular goiter +synonym: "Non-toxic uninodular goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:190237002] +synonym: "Non-toxic uninodular goiter (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:76917005] +synonym: "Non-toxic uninodular goitre" EXACT [SNOMEDCT_2005_07_31:154652001] +is_obsolete: true + +[Term] +id: DOID:14313 +name: thyroid nodule +synonym: "Nodule of the Thyroid gland" EXACT [NCI2004_11_17:C3415] +synonym: "Thyroid nodule" EXACT [SNOMEDCT_2005_07_31:76917005] +synonym: "Thyroid nodule" EXACT [SNOMEDCT_2005_07_31:190234009] +synonym: "Thyroid nodule" EXACT [MTHICD9_2006:241.0] +synonym: "Thyroid nodule (disorder)" EXACT [SNOMEDCT_2005_07_31:237495005] +is_obsolete: true + +[Term] +id: DOID:14319 +name: pleuropneumonia +def: "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria." [url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] +synonym: "Pleurobronchopneumonia" EXACT [MTHICD9_2006:485] +xref: MSH:D011001 +xref: SNOMEDCT_US_2015_03_01:60485005 +xref: UMLS_CUI:C0032241 +is_a: DOID:10247 ! pleurisy +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:1432 +name: blindness +synonym: "Blindness and low vis." EXACT [SNOMEDCT_2005_07_31:193698004] +synonym: "Blindness and low vis." EXACT [SNOMEDCT_2005_07_31:155146008] +synonym: "Blindness or low vision NOS" EXACT [SNOMEDCT_2005_07_31:155150001] +synonym: "Blindness or low vision NOS (finding)" EXACT [SNOMEDCT_2005_07_31:267729001] +xref: ICD10CM:H54 +xref: ICD9CM:369 +xref: SNOMEDCT_US_2015_03_01:155146008 +xref: SNOMEDCT_US_2015_03_01:155150001 +xref: SNOMEDCT_US_2015_03_01:193698004 +xref: SNOMEDCT_US_2015_03_01:267729001 +xref: UMLS_CUI:C0155020 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:14320 +name: generalized anxiety disorder +def: "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] +xref: ICD10CM:F41.1 +xref: ICD9CM:300.02 +xref: NCI:C92622 +xref: SNOMEDCT_US_2015_03_01:191706008 +xref: SNOMEDCT_US_2015_03_01:192401002 +xref: SNOMEDCT_US_2015_03_01:21897009 +xref: UMLS_CUI:C0270549 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:14323 +name: Marfan syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Marfan's syndrome" EXACT [SNOMEDCT_2005_07_31:268359006] +xref: ICD10CM:Q87.4 +xref: ICD10CM:Q87.40 +xref: ICD9CM:759.82 +xref: MSH:D008382 +xref: NCI:C34807 +xref: OMIM:154700 +xref: SNOMEDCT_US_2015_03_01:157024004 +xref: SNOMEDCT_US_2015_03_01:157033002 +xref: SNOMEDCT_US_2015_03_01:19346006 +xref: SNOMEDCT_US_2015_03_01:268359006 +xref: UMLS_CUI:C0024796 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14324 +name: Plasmodium malariae malaria +def: "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria] +synonym: "Malaria by Plasmodium malariae" EXACT [MTHICD9_2006:084.2] +synonym: "Quartan Malaria" EXACT [NCI2004_11_17:C34799] +synonym: "Quartan malaria" EXACT [ICD9CM_2006:084.2] +synonym: "Quartan malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:27618009] +xref: ICD10CM:B52 +xref: ICD10CM:B52.9 +xref: ICD9CM:084.2 +xref: NCI:C34799 +xref: SNOMEDCT_US_2015_03_01:27618009 +xref: UMLS_CUI:C0024536 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:14325 +name: mixed malaria +def: "A malaria that involves infection with more than one species of Plasmodium at the same time." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15105024] +synonym: "malaria by more than one parasite" EXACT [] +synonym: "Malaria fever by more than one parasite" EXACT [MTHICD9_2006:084.5] +xref: ICD9CM:084.5 +xref: SNOMEDCT_US_2015_03_01:21070001 +xref: UMLS_CUI:C0153121 +is_a: DOID:12365 ! malaria + +[Term] +id: DOID:14326 +name: avian malaria +def: "A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia." [url:http\://en.wikipedia.org/wiki/Avian_malaria] +synonym: "Avian malaria (disorder)" EXACT [SNOMEDCT_2005_07_31:1498006] +is_obsolete: true + +[Term] +id: DOID:14327 +name: gonococcal pericarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:90428001] +is_obsolete: true + +[Term] +id: DOID:14330 +name: Parkinson's disease +def: "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." [url:http\://en.wikipedia.org/wiki/Parkinson%27s_disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "paralysis agitans" EXACT [CSP2005:2057-3689] +synonym: "Parkinson disease" EXACT [] +xref: EFO:0002508 +xref: ICD10CM:G20 +xref: ICD9CM:332 +xref: ICD9CM:332.0 +xref: KEGG:05012 +xref: MSH:D010300 +xref: NCI:C26845 +xref: OMIM:168600 +xref: OMIM:260300 +xref: OMIM:300557 +xref: OMIM:556500 +xref: OMIM:602404 +xref: OMIM:605543 +xref: OMIM:606324 +xref: OMIM:606693 +xref: OMIM:606852 +xref: OMIM:607060 +xref: OMIM:607688 +xref: OMIM:610297 +xref: OMIM:612953 +xref: OMIM:613164 +xref: OMIM:613643 +xref: OMIM:614203 +xref: OMIM:614251 +xref: OMIM:615528 +xref: OMIM:615530 +xref: ORDO:2828 +xref: SNOMEDCT_US_2015_03_01:154999006 +xref: SNOMEDCT_US_2015_03_01:155000006 +xref: SNOMEDCT_US_2015_03_01:155002003 +xref: SNOMEDCT_US_2015_03_01:192825001 +xref: SNOMEDCT_US_2015_03_01:192831003 +xref: SNOMEDCT_US_2015_03_01:49049000 +xref: UMLS_CUI:C0030567 +is_a: DOID:0050890 ! synucleinopathy + +[Term] +id: DOID:14332 +name: postencephalitic Parkinson disease +synonym: "Postencephalitic Parkinsonism" EXACT [NCI2004_11_17:C34898] +synonym: "Postencephalitic parkinsonism" EXACT [SNOMEDCT_2005_07_31:192828004] +synonym: "Postencephalitic parkinsonism (disorder)" EXACT [SNOMEDCT_2005_07_31:19972008] +xref: ICD10CM:G21.3 +xref: MSH:D010301 +xref: NCI:C34898 +xref: SNOMEDCT_US_2015_03_01:192828004 +xref: SNOMEDCT_US_2015_03_01:19972008 +xref: UMLS_CUI:C0030568 +is_a: DOID:13548 ! secondary Parkinson disease + +[Term] +id: DOID:14336 +name: estrogen excess +synonym: "Estrogen excess (disorder)" EXACT [SNOMEDCT_2005_07_31:190533004] +synonym: "hyperestrogenism" EXACT [ICD9CM_2006:256.0] +synonym: "hyperestrogenism (disorder)" EXACT [SNOMEDCT_2005_07_31:37295009] +xref: ICD10CM:E28.0 +xref: ICD9CM:256.0 +xref: NCI:C113344 +xref: SNOMEDCT_US_2015_03_01:190533004 +xref: SNOMEDCT_US_2015_03_01:37295009 +xref: UMLS_CUI:C0154209 +is_a: DOID:1414 ! ovarian dysfunction + +[Term] +id: DOID:14338 +name: Pseudomonal pneumonia +def: "A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias." [url:http\://en.wikipedia.org/wiki/Pseudomonas_aeruginosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf] +subset: gram-negative_bacterial_infectious_disease +synonym: "Pneumonia due to Pseudomonas" EXACT [ICD9CM_2006:482.1] +synonym: "Pneumonia due to Pseudomonas (disorder)" EXACT [SNOMEDCT_2005_07_31:41381004] +is_obsolete: true + +[Term] +id: DOID:14339 +name: paraphrenia +synonym: "Paraphrenia" EXACT [NCI2004_11_17:C35721] +synonym: "Paraphrenia" EXACT [ICD9CM_2006:297.2] +synonym: "Paraphrenia" EXACT [SNOMEDCT_2005_07_31:268748000] +synonym: "Paraphrenia" EXACT [SNOMEDCT_2005_07_31:154869001] +synonym: "Paraphrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:26472000] +is_obsolete: true + +[Term] +id: DOID:14350 +name: suppurative thyroiditis +synonym: "acute suppurative thyroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:25476006] +synonym: "Infectious thyroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:3511005] +synonym: "Suppurative thyroiditis" EXACT [MTHICD9_2006:245.0] +xref: ICD10CM:E06.0 +xref: MSH:D013969 +xref: SNOMEDCT_US_2015_03_01:25476006 +xref: SNOMEDCT_US_2015_03_01:3511005 +xref: UMLS_CUI:C0040150 +is_a: DOID:7166 ! thyroiditis + +[Term] +id: DOID:14351 +name: Riedel's fibrosing thyroiditis +synonym: "Riedel fibrosing thyroiditis" EXACT [] +xref: NCI:C35827 +xref: UMLS_CUI:C1335787 +is_a: DOID:7166 ! thyroiditis + +[Term] +id: DOID:14353 +name: acute thyroiditis +synonym: "acute thyroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:190293001] +synonym: "acute thyroiditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190295008] +xref: ICD10CM:E06.0 +xref: ICD9CM:245.0 +xref: SNOMEDCT_US_2015_03_01:154665005 +xref: SNOMEDCT_US_2015_03_01:190293001 +xref: SNOMEDCT_US_2015_03_01:190295008 +xref: UMLS_CUI:C0001360 +is_a: DOID:7166 ! thyroiditis + +[Term] +id: DOID:1436 +name: corneal ectasia +synonym: "Corneal ectasia (disorder)" EXACT [SNOMEDCT_2005_07_31:14748007] +xref: ICD10CM:H18.71 +xref: ICD9CM:371.71 +xref: SNOMEDCT_US_2015_03_01:14748007 +xref: UMLS_CUI:C0155135 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:14360 +name: Opisthorchis viverrini infectious disease +def: "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] +synonym: "Infection by Opisthorchis viverrini (disorder)" EXACT [SNOMEDCT_2005_07_31:90281006] +synonym: "Opisthorchis Viverrini Infection" EXACT [NCI2004_11_17:C39295] +is_obsolete: true + +[Term] +id: DOID:14363 +name: congenital syphilitic meningitis +subset: gram-negative_bacterial_infectious_disease +synonym: "Congenital syphilitic meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:6267005] +is_obsolete: true + +[Term] +id: DOID:14365 +name: systemic primary carnitine deficiency disease +alt_id: DOID:1668 +def: "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy." [url:http\://en.wikipedia.org/wiki/Carnitine_deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "carnitine transporter deficiency" EXACT [] +synonym: "carnitine uptake defect" EXACT [] +synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [] +synonym: "primary carnitine deficiency" EXACT [ICD9CM_2006:277.81] +synonym: "renal carnitine transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:21764004] +xref: ICD10CM:E71.41 +xref: ICD10CM:E71.42 +xref: ICD9CM:277.81 +xref: ICD9CM:277.82 +xref: MSH:C536778 +xref: NCI:C98864 +xref: OMIM:212140 +xref: SNOMEDCT_US_2015_03_01:21764004 +xref: UMLS_CUI:C0342788 +xref: UMLS_CUI:C1260388 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:14374 +name: norwegian scabies +def: "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] +synonym: "(Scabies (& [Norwegian])) or (sarcoptic itch)" EXACT [SNOMEDCT_2005_07_31:187215008] +synonym: "Crusted scabies (disorder)" EXACT [SNOMEDCT_2005_07_31:128870005] +synonym: "Norwegian Scabies" EXACT [NCI2004_11_17:C34855] +xref: NCI:C34855 +xref: SNOMEDCT_US_2015_03_01:128870005 +xref: SNOMEDCT_US_2015_03_01:187215008 +xref: SNOMEDCT_US_2015_03_01:67172004 +xref: UMLS_CUI:C0028425 +is_a: DOID:8295 ! scabies + +[Term] +id: DOID:14384 +name: parietal lobe neoplasm +alt_id: DOID:14383 +def: "A cerebrum cancer that is located_in the parietal lobe." [url:http\://en.wikipedia.org/wiki/Parietal_lobe] +synonym: "malignant neoplasm of parietal lobe" EXACT [] +synonym: "tumor of Parietal Lobe" EXACT [NCI2004_11_17:C5573] +xref: ICD10CM:C71.3 +xref: ICD9CM:191.3 +xref: NCI:C5573 +xref: SNOMEDCT_US_2015_03_01:126956001 +xref: SNOMEDCT_US_2015_03_01:363469001 +xref: SNOMEDCT_US_2015_03_01:93946000 +xref: UMLS_CUI:C0153637 +xref: UMLS_CUI:C1263888 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:1439 +name: pyuria +synonym: "Pus cells in urine" EXACT [SNOMEDCT_2005_07_31:144593007] +synonym: "Pus cells in urine" EXACT [SNOMEDCT_2005_07_31:167358001] +synonym: "Pus cells in urine (finding)" EXACT [SNOMEDCT_2005_07_31:275765006] +synonym: "Pyuria (finding)" EXACT [SNOMEDCT_2005_07_31:4800001] +xref: MSH:D011776 +xref: SNOMEDCT_US_2015_03_01:144593007 +xref: SNOMEDCT_US_2015_03_01:167358001 +xref: SNOMEDCT_US_2015_03_01:275765006 +xref: SNOMEDCT_US_2015_03_01:4800001 +xref: UMLS_CUI:C0034359 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:14392 +name: thrombophlebitis migrans +def: "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." [url:http\://en.wikipedia.org/wiki/Thrombophlebitis] +synonym: "Thrombophlebitis migrans (disorder)" EXACT [SNOMEDCT_2005_07_31:31268005] +xref: ICD10CM:I82.1 +xref: ICD9CM:453.1 +xref: SNOMEDCT_US_2015_03_01:155456002 +xref: SNOMEDCT_US_2015_03_01:155491005 +xref: SNOMEDCT_US_2015_03_01:31268005 +xref: UMLS_CUI:C0152250 +is_a: DOID:3875 ! thrombophlebitis + +[Term] +id: DOID:14397 +name: protozoal dysentery +def: "A dysentery that involves protozoan infection." [url:http\://en.wikipedia.org/wiki/Dysentery] +xref: ICD10CM:A07.8 +xref: ICD9CM:007.8 +xref: SNOMEDCT_US_2015_03_01:186127007 +xref: SNOMEDCT_US_2015_03_01:187279007 +xref: UMLS_CUI:C0152507 +is_a: DOID:12384 ! dysentery + +[Term] +id: DOID:1440 +name: Machado-Joseph disease +def: "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene." [url:http\://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, url:http\://omim.org/entry/109150, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Azorean disease (disorder)" EXACT [SNOMEDCT_2005_07_31:91952008] +synonym: "MJD" EXACT [] +synonym: "spinocerebellar ataxia 3" EXACT [] +synonym: "spinocerebellar ataxia type 3" EXACT [] +xref: MSH:D017827 +xref: NCI:C84830 +xref: OMIM:109150 +xref: SNOMEDCT_US_2015_03_01:91952008 +xref: UMLS_CUI:C0024408 +is_a: DOID:1441 ! autosomal dominant cerebellar ataxia + +[Term] +id: DOID:14400 +name: capillary leak syndrome +synonym: "Capillary leak syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:87730004] +xref: MSH:D019559 +xref: NCI:C62578 +xref: SNOMEDCT_US_2015_03_01:87730004 +xref: UMLS_CUI:C0343084 +is_a: DOID:1271 ! capillary disease + +[Term] +id: DOID:14401 +name: cutis marmorata +synonym: "Cutis Marmorata" EXACT [NCI2004_11_17:C3923] +synonym: "Cutis marmorata (disorder)" EXACT [SNOMEDCT_2005_07_31:26825009] +is_obsolete: true + +[Term] +id: DOID:14402 +name: critical illness polyneuropathy +synonym: "Critical illness polyneuropathy" EXACT [ICD9CM_2006:357.82] +synonym: "Critical illness polyneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:230594005] +xref: ICD10CM:G62.81 +xref: ICD9CM:357.82 +xref: MSH:D011115 +xref: SNOMEDCT_US_2015_03_01:230594005 +xref: UMLS_CUI:C0393851 +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:1441 +name: autosomal dominant cerebellar ataxia +alt_id: DOID:2478 +def: "A hereditary ataxia that has_material_basis_in autosomal dominant inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.ncbi.nlm.nih.gov/books/NBK22234/] +synonym: "spinocerebellar ataxia " EXACT [] +xref: ICD9CM:334.3 +xref: MSH:D020754 +xref: NCI:C82341 +xref: SNOMEDCT_US_2015_03_01:129609000 +xref: UMLS_CUI:C0029534 +xref: UMLS_CUI:C0087012 +is_a: DOID:0050951 ! hereditary ataxia + +[Term] +id: DOID:14413 +name: labyrinthine bilateral reactive loss +synonym: "Bilateral loss of labyrinthine reactivity (disorder)" EXACT [SNOMEDCT_2005_07_31:2058001] +synonym: "Labyrinthine bilateral reactive loss (disorder)" EXACT [SNOMEDCT_2005_07_31:194377001] +synonym: "Loss of labyrinthine reactivity, bilateral" EXACT [ICD9CM_2006:386.56] +xref: ICD9CM:386.56 +xref: SNOMEDCT_US_2015_03_01:194377001 +xref: SNOMEDCT_US_2015_03_01:2058001 +xref: UMLS_CUI:C0155520 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:14415 +name: Legg-Calve-Perthes Disease +alt_id: DOID:14561 +def: "An osteochondrosis that results_in death and fracture located_in hip joint." [url:http\://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/l/legg_calv_perthes_disease.aspx, url:http\://www.wheelessonline.com/ortho/legg_calve_perthes_disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Calve - Perthes' disease" EXACT [SNOMEDCT_2005_07_31:203367009] +synonym: "Coxa plana" EXACT [SNOMEDCT_2005_07_31:203371007] +synonym: "Juvenile osteochond-hip/pelvis" EXACT [SNOMEDCT_2005_07_31:156817009, SNOMEDCT_2005_07_31:270545000] +synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [] +synonym: "Juvenile osteochondrosis of hip and/or pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:15739006] +synonym: "Legg-Calve-Perthes Symptom" RELATED [] +synonym: "Osteochondrosis of Legg-Calve-Perthes" EXACT [MTHICD9_2006:732.1] +synonym: "Perthe's disease" EXACT [SNOMEDCT_2005_07_31:240169001] +synonym: "Perthe's disease" EXACT [SNOMEDCT_2005_07_31:111255008] +synonym: "Perthe's disease" EXACT [SNOMEDCT_2005_07_31:270545000] +synonym: "Perthe's disease" EXACT [SNOMEDCT_2005_07_31:203372000] +synonym: "Perthe's disease" EXACT [SNOMEDCT_2005_07_31:156817009] +synonym: "Perthes disease" EXACT [NCI2004_11_17:C34766] +synonym: "Pseudocoxalgia" EXACT [SNOMEDCT_2005_07_31:15739006] +synonym: "pseudocoxalgia" EXACT [CSP2005:2715-2772] +xref: ICD10CM:M91.2 +xref: ICD10CM:M91.3 +xref: MSH:D007873 +xref: NCI2009_04D:C34766 +xref: NCI:C34766 +xref: OMIM:150600 +xref: SNOMEDCT_US_2015_03_01:111255008 +xref: SNOMEDCT_US_2015_03_01:156817009 +xref: SNOMEDCT_US_2015_03_01:15739006 +xref: SNOMEDCT_US_2015_03_01:203365001 +xref: SNOMEDCT_US_2015_03_01:203367009 +xref: SNOMEDCT_US_2015_03_01:203371007 +xref: SNOMEDCT_US_2015_03_01:203372000 +xref: SNOMEDCT_US_2015_03_01:240169001 +xref: SNOMEDCT_US_2015_03_01:240241003 +xref: SNOMEDCT_US_2015_03_01:270545000 +xref: UMLS_CUI:C0022441 +xref: UMLS_CUI:C0023234 +is_a: DOID:8125 ! osteochondrosis + +[Term] +id: DOID:14418 +name: dracunculiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." [url:http\://en.wikipedia.org/wiki/Dracunculiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm] +synonym: "Dracontiasis" EXACT [ICD9CM_2006:125.7] +synonym: "Infection by Dracunculus medinensis" EXACT [MTHICD9_2006:125.7] +synonym: "Infection by Dracunculus medinensis (disorder)" EXACT [SNOMEDCT_2005_07_31:396334002] +synonym: "Infection by Dracunculus medinensis (disorder)" EXACT [SNOMEDCT_2005_07_31:48874008] +xref: ICD10CM:B72 +xref: ICD9CM:125.7 +xref: MSH:D004320 +xref: NCI:C84677 +xref: SNOMEDCT_US_2015_03_01:396334002 +xref: SNOMEDCT_US_2015_03_01:48874008 +xref: UMLS_CUI:C0013100 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:14419 +name: Mansonella ozzardi infectious disease +def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] +synonym: "Filariasis ozzardi infection" EXACT [ICD9CM_2006:125.5] +synonym: "Mansonella Ozzardi Infection" EXACT [NCI2004_11_17:C34612] +synonym: "Ozzardian filariasis (disorder)" EXACT [SNOMEDCT_2005_07_31:30865009] +is_obsolete: true + +[Term] +id: DOID:1442 +name: Alpers syndrome +def: "A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions." [url:http\://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alper's syndrome" EXACT [NCI2004_11_17:C35257] +synonym: "ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY" EXACT [] +synonym: "Alpers' disease or gray-matter degeneration" EXACT [MTHICD9_2006:330.8] +synonym: "ALPERS-HUTTENLOCHER SYNDROME" EXACT [] +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 4A" EXACT [] +synonym: "progressive sclerosing poliodystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:20415001] +xref: ICD10CM:G31.81 +xref: MSH:D002549 +xref: NCI:C35257 +xref: OMIM:203700 +xref: SNOMEDCT_US_2015_03_01:20415001 +xref: UMLS_CUI:C0205710 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:14421 +name: Brugia malayi filariasis +def: "A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection." [url:http\://en.wikipedia.org/wiki/Brugia_malayi, url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] +subset: zoonotic_infectious_disease +synonym: "brugia filariasis due to brugia malayi" EXACT [] +synonym: "Infection by Brugia malayi (disorder)" EXACT [SNOMEDCT_2005_07_31:76999009] +synonym: "Infection due to Wuchereria malayi" EXACT [MTHICD9_2006:125.1] +synonym: "Malayan filariasis" EXACT [ICD9CM_2006:125.1] +is_obsolete: true + +[Term] +id: DOID:14422 +name: dipetalonemiasis +def: "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." [url:http\://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false] +subset: zoonotic_infectious_disease +synonym: "dipetalonema infectious disease" EXACT [] +synonym: "Infection by Dipetalonema (disorder)" EXACT [SNOMEDCT_2005_07_31:15629006] +synonym: "Infection by Dipetalonema perstans" EXACT [MTHICD9_2006:125.4] +synonym: "Infection by Dipetalonema perstans (disorder)" EXACT [SNOMEDCT_2005_07_31:360423002] +synonym: "Infection by Dipetalonema perstans (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:40229007] +xref: ICD9CM:125.4 +xref: MSH:D004154 +xref: NCI:C34540 +xref: SNOMEDCT_US_2015_03_01:15629006 +xref: SNOMEDCT_US_2015_03_01:360423002 +xref: SNOMEDCT_US_2015_03_01:40229007 +xref: UMLS_CUI:C0012517 +is_a: DOID:1080 ! filariasis + +[Term] +id: DOID:14423 +name: glossopharyngeal neuralgia +synonym: "Glossopharyngeal neuralgia" EXACT [ICD9CM_2006:352.1] +synonym: "Glossopharyngeal neuralgia (disorder)" EXACT [SNOMEDCT_2005_07_31:43763009] +xref: ICD10CM:G52.1 +xref: ICD9CM:352.1 +xref: MSH:D020435 +xref: SNOMEDCT_US_2015_03_01:43763009 +xref: UMLS_CUI:C0154731 +is_a: DOID:3418 ! glossopharyngeal nerve disease + +[Term] +id: DOID:14425 +name: secondary malignant neoplasm of intra-abdominal lymph node +synonym: "metastasis to intra-abdominal lymph node" EXACT [SNOMEDCT_2005_07_31:154559003] +synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes" EXACT [ICD9CM_2006:196.2] +synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188405002] +synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188411004] +synonym: "secondary malignant neoplasm of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94347008] +is_obsolete: true + +[Term] +id: DOID:14426 +name: secondary malignant neoplasm of intrathoracic lymph node +synonym: "metastasis to intrathoracic lymph node" EXACT [SNOMEDCT_2005_07_31:154558006] +synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes" EXACT [ICD9CM_2006:196.1] +synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188393004] +synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188404003] +synonym: "secondary malignant neoplasm of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94351005] +is_obsolete: true + +[Term] +id: DOID:14427 +name: abnormality of glucagon secretion +synonym: "abnormality of secretion of glucagon" EXACT [ICD9CM_2006:251.4] +synonym: "abnormality of secretion of glucagon (disorder)" EXACT [SNOMEDCT_2005_07_31:11178005] +synonym: "Glucagon secretion abnormality NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190442008] +xref: ICD9CM:251.4 +xref: SNOMEDCT_US_2015_03_01:11178005 +xref: SNOMEDCT_US_2015_03_01:190442008 +xref: UMLS_CUI:C0154191 +is_a: DOID:1428 ! endocrine pancreas disease + +[Term] +id: DOID:1443 +name: cerebral degeneration +synonym: "Brain degeneration" EXACT [SNOMEDCT_2005_07_31:267686002] +xref: ICD9CM:331.9 +xref: SNOMEDCT_US_2015_03_01:154994001 +xref: SNOMEDCT_US_2015_03_01:154998003 +xref: SNOMEDCT_US_2015_03_01:192824002 +xref: SNOMEDCT_US_2015_03_01:267579001 +xref: SNOMEDCT_US_2015_03_01:267686002 +xref: SNOMEDCT_US_2015_03_01:267688001 +xref: SNOMEDCT_US_2015_03_01:418143002 +xref: SNOMEDCT_US_2015_03_01:52522001 +xref: SNOMEDCT_US_2015_03_01:73768007 +xref: UMLS_CUI:C0154671 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:14433 +name: enterohemorrhagic Escherichia coli infectious disease +def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "intestinal infection due to enterohemorrhagic E. coli" EXACT [ICD9CM_2006:008.04] +synonym: "Verotoxigenic Escherichia coli gastrointestinal tract infection" EXACT [SNOMEDCT_2005_07_31:186133003] +synonym: "Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240354007] +is_obsolete: true + +[Term] +id: DOID:14434 +name: enterotoxigenic Escherichia coli infectious disease +def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Enterotoxigenic Escherichia coli gastrointestinal tract infection" EXACT [SNOMEDCT_2005_07_31:186131001] +synonym: "Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [SNOMEDCT_2005_07_31:240352006] +synonym: "intestinal infection due to enterotoxigenic E. coli" EXACT [ICD9CM_2006:008.02] +is_obsolete: true + +[Term] +id: DOID:14435 +name: chronic tubotympanic suppurative otitis media +def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false] +synonym: "chronic tubotympanic suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:87665008] +xref: ICD10CM:H66.1 +xref: ICD10CM:H66.10 +xref: ICD9CM:382.1 +xref: SNOMEDCT_US_2015_03_01:87665008 +xref: UMLS_CUI:C0155440 +is_a: DOID:11506 ! suppurative otitis media + +[Term] +id: DOID:14443 +name: cholinergic urticaria +def: "An urticaria induced by sweating." [url:http\://en.wikipedia.org/wiki/Cholinergic_urticaria, url:www.dermnetnz.org/reactions/urticaria.html] +xref: ICD10CM:L50.5 +xref: ICD9CM:708.5 +xref: SNOMEDCT_US_2015_03_01:73098005 +xref: UMLS_CUI:C0152230 +is_a: DOID:0060220 ! physical urticaria + +[Term] +id: DOID:14444 +name: sclerosing keratitis +synonym: "Sclerokeratitis" EXACT [SNOMEDCT_2005_07_31:194143001] +synonym: "Sclerokeratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:417290008] +synonym: "Sclerosing keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:27886001] +xref: ICD10CM:H16.33 +xref: ICD9CM:370.54 +xref: SNOMEDCT_US_2015_03_01:194143001 +xref: SNOMEDCT_US_2015_03_01:27886001 +xref: SNOMEDCT_US_2015_03_01:417290008 +xref: UMLS_CUI:C0155090 +is_a: DOID:13794 ! anterior scleritis +is_a: DOID:9858 ! deep keratitis + +[Term] +id: DOID:14445 +name: chronic closed-angle glaucoma +synonym: "Anatomical narrow angle glaucoma" EXACT [MTH:NOCODE] +synonym: "chronic angle-closure glaucoma" EXACT [SNOMEDCT_2005_07_31:15417005] +synonym: "chronic angle-closure glaucoma" EXACT [ICD9CM_2006:365.23] +synonym: "chronic narrow angle glaucoma" EXACT [SNOMEDCT_2005_07_31:33647009] +xref: ICD10CM:H40.22 +xref: ICD9CM:365.23 +xref: SNOMEDCT_US_2015_03_01:15417005 +xref: SNOMEDCT_US_2015_03_01:314542007 +xref: SNOMEDCT_US_2015_03_01:33647009 +xref: UMLS_CUI:C0154947 +is_a: DOID:1405 ! primary angle-closure glaucoma + +[Term] +id: DOID:14447 +name: gonadal dysgenesis +def: "A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo." [url:http\://en.wikipedia.org/wiki/Gonadal_dysgenesis] +synonym: "Gonadal dysgenesis syndrome" EXACT [SNOMEDCT_2005_07_31:38804009] +xref: ICD9CM:758.6 +xref: MSH:D006059 +xref: NCI:C26900 +xref: NCI:C61420 +xref: SNOMEDCT_US_2015_03_01:157020008 +xref: SNOMEDCT_US_2015_03_01:205681004 +xref: SNOMEDCT_US_2015_03_01:205692003 +xref: SNOMEDCT_US_2015_03_01:205695001 +xref: SNOMEDCT_US_2015_03_01:268356004 +xref: SNOMEDCT_US_2015_03_01:38804009 +xref: UMLS_CUI:C0018051 +is_a: DOID:1924 ! hypogonadism + +[Term] +id: DOID:14448 +name: 46 XY gonadal dysgenesis +def: "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo." [url:http\://en.wikipedia.org/wiki/XY_gonadal_dysgenesis] +comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping confirmed by DO. [LS]. +synonym: "46,XY SEX REVERSAL" EXACT [] +synonym: "Pure gonadal dysgenesis 46,XY (disorder)" EXACT [SNOMEDCT_2005_07_31:95218005] +xref: MSH:D006061 +xref: OMIM:154230 +xref: OMIM:233420 +xref: OMIM:300018 +xref: OMIM:400044 +xref: OMIM:612965 +xref: OMIM:613080 +xref: OMIM:613762 +xref: OMIM:614279 +xref: UMLS_CUI:C0018054 +is_a: DOID:14447 ! gonadal dysgenesis + +[Term] +id: DOID:14449 +name: mixed gonadal dysgenesis +xref: MSH:D006060 +xref: SNOMEDCT_US_2015_03_01:205682006 +xref: SNOMEDCT_US_2015_03_01:83579008 +xref: UMLS_CUI:C0018055 +is_a: DOID:3491 ! Turner syndrome + +[Term] +id: DOID:14450 +name: 46 XX gonadal dysgenesis +def: "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female." [url:http\://en.wikipedia.org/wiki/XX_gonadal_dysgenesis, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243] +comment: OMIM mapping confirmed by DO. [LS]. +xref: MSH:D023961 +xref: OMIM:233300 +xref: OMIM:278850 +xref: OMIM:300833 +xref: OMIM:400045 +xref: OMIM:614324 +xref: ORDO:243 +xref: UMLS_CUI:C0949595 +is_a: DOID:14447 ! gonadal dysgenesis + +[Term] +id: DOID:14451 +name: hyperkalemic periodic paralysis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hyperkalemic periodic paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:304737009] +synonym: "familial hyperkalemic periodic paralysis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:15973007] +synonym: "hyperkalemic periodic paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:278513006] +xref: ICD10CM:G72.3 +xref: MSH:D020513 +xref: OMIM:170500 +xref: SNOMEDCT_US_2015_03_01:15973007 +xref: SNOMEDCT_US_2015_03_01:278513006 +xref: SNOMEDCT_US_2015_03_01:304737009 +xref: UMLS_CUI:C0238357 +is_a: DOID:1029 ! familial periodic paralysis + +[Term] +id: DOID:14452 +name: hypokalemic periodic paralysis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hypokalemic periodic paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:82732003] +synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [SNOMEDCT_2005_07_31:193241004] +synonym: "Hypokalemic familial periodic paralysis" EXACT [MTHICD9_2006:359.3] +synonym: "Hypokalemic periodic paralysis (disorder)" EXACT [SNOMEDCT_2005_07_31:240093008] +synonym: "periodic hypokalemic paralysis" EXACT [CSP2005:1849-3266] +synonym: "Periodic paralysis I" EXACT [SNOMEDCT_2005_07_31:54696002] +xref: ICD10CM:G72.3 +xref: MSH:D020514 +xref: NCI:C84775 +xref: OMIM:170400 +xref: OMIM:613345 +xref: SNOMEDCT_US_2015_03_01:193241004 +xref: SNOMEDCT_US_2015_03_01:240093008 +xref: SNOMEDCT_US_2015_03_01:82732003 +xref: UMLS_CUI:C0238358 +is_a: DOID:1029 ! familial periodic paralysis + +[Term] +id: DOID:14453 +name: farmer's lung +def: "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/dictionary/farmer%27s%20lung] +synonym: "farmer lung" EXACT [] +synonym: "Farmers lung" EXACT [SNOMEDCT_2005_07_31:266399001] +xref: ICD10CM:J67.0 +xref: ICD9CM:495.0 +xref: MSH:D005203 +xref: NCI:C34605 +xref: SNOMEDCT_US_2015_03_01:155581001 +xref: SNOMEDCT_US_2015_03_01:18690003 +xref: SNOMEDCT_US_2015_03_01:266399001 +xref: UMLS_CUI:C0015634 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:14456 +name: Brucella melitensis brucellosis +def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain." [url:http\://www.bmj.com/cgi/reprint/1/5644/612.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A23.0 +xref: ICD9CM:023.0 +xref: SNOMEDCT_US_2015_03_01:186305007 +xref: SNOMEDCT_US_2015_03_01:30789005 +xref: SNOMEDCT_US_2015_03_01:427999003 +xref: UMLS_CUI:C0302362 +is_a: DOID:11077 ! brucellosis + +[Term] +id: DOID:14457 +name: Brucella abortus brucellosis +def: "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10790142] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A23.1 +xref: ICD9CM:023.1 +xref: MSH:D002007 +xref: SNOMEDCT_US_2015_03_01:186306008 +xref: SNOMEDCT_US_2015_03_01:427795000 +xref: SNOMEDCT_US_2015_03_01:9060000 +xref: UMLS_CUI:C0302363 +is_a: DOID:11077 ! brucellosis + +[Term] +id: DOID:14459 +name: hemangioma of orbit +synonym: "Angioma of the orbit" EXACT [NCI2004_11_17:C6245] +xref: NCI:C6245 +xref: UMLS_CUI:C1335128 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:14463 +name: cavernous hemangioma of orbit +synonym: "Cavernous Angioma of orbit" EXACT [NCI2004_11_17:C4546] +xref: NCI:C4546 +xref: SNOMEDCT_US_2015_03_01:254998002 +xref: UMLS_CUI:C0346352 +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:14464 +name: neuroleptic malignant syndrome +xref: ICD10CM:G21.0 +xref: ICD9CM:333.92 +xref: MSH:D009459 +xref: NCI:C94829 +xref: ORDO:94093 +xref: SNOMEDCT_US_2015_03_01:15244003 +xref: SNOMEDCT_US_2015_03_01:192826000 +xref: SNOMEDCT_US_2015_03_01:68977009 +xref: UMLS_CUI:C0027849 +is_a: DOID:481 ! central nervous system hereditary degenerative disease + +[Term] +id: DOID:14467 +name: drug-induced persisting amnestic disease +is_obsolete: true + +[Term] +id: DOID:14472 +name: hantavirus pulmonary syndrome +def: "A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10742726, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome] +subset: zoonotic_infectious_disease +xref: MSH:D018804 +xref: NCI:C84747 +xref: SNOMEDCT_US_2015_03_01:120639003 +xref: UMLS_CUI:C0243025 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:14473 +name: adenovirus pneumonia +def: "An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells." [url:http\://en.wikipedia.org/wiki/Adenovirus_infection, url:http\://virology-online.com/viruses/Adenoviruses3.htm, url:http\://www.ajronline.org/cgi/reprint/186/5/1288.pdf] +synonym: "Pneumonia due to adenovirus" EXACT [ICD9CM_2006:480.0] +is_obsolete: true + +[Term] +id: DOID:14474 +name: respiratory syncytial virus pneumonia +def: "A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium." [url:http\://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false, url:http\://www.cdc.gov/RSV/, url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.htm] +synonym: "Pneumonia due to respiratory syncytial virus (disorder)" EXACT [SNOMEDCT_2005_07_31:195881003] +is_obsolete: true + +[Term] +id: DOID:14475 +name: parainfluenzal pneumonia +def: "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever." [url:http\://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false, url:http\://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf] +synonym: "Parainfluenza virus pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:64917006] +is_obsolete: true + +[Term] +id: DOID:14476 +name: SARS coronavirus pneumonia +def: "A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure." [url:http\://en.wikipedia.org/wiki/SARS, url:http\://www.doh.gov.ph/sars/may16.pdf] +synonym: "SARS-associated coronavirus pneumonia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:14477 +name: Cytomegalovirus pneumonia +def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000664.htm] +synonym: "Cytomegaloviral pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:7678002] +is_obsolete: true + +[Term] +id: DOID:14482 +name: herpes gestationis +synonym: "Gestational herpes" EXACT [SNOMEDCT_2005_07_31:156129002] +synonym: "Gestational herpes" EXACT [SNOMEDCT_2005_07_31:270959002] +synonym: "Herpes gestationis" EXACT [MTHICD9_2006:646.8] +synonym: "Herpes gestationis (disorder)" EXACT [SNOMEDCT_2005_07_31:86081009] +synonym: "Herpes gestationis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:199131000] +synonym: "Herpes gestationis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:199126002] +xref: ICD10CM:O26.4 +xref: ICD10CM:O26.40 +xref: MSH:D006559 +xref: NCI:C85003 +xref: SNOMEDCT_US_2015_03_01:156129002 +xref: SNOMEDCT_US_2015_03_01:199126002 +xref: SNOMEDCT_US_2015_03_01:199131000 +xref: SNOMEDCT_US_2015_03_01:270959002 +xref: SNOMEDCT_US_2015_03_01:86081009 +xref: UMLS_CUI:C0019343 +is_a: DOID:2731 ! vesiculobullous skin disease + +[Term] +id: DOID:14483 +name: chorea gravidarum +synonym: "Chorea gravidarum (disorder)" EXACT [SNOMEDCT_2005_07_31:25113000] +xref: MSH:D020150 +xref: SNOMEDCT_US_2015_03_01:25113000 +xref: UMLS_CUI:C0264746 +is_a: DOID:12859 ! choreatic disease + +[Term] +id: DOID:14484 +name: sporotrichosis +def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." [url:http\://www.nyhealth.gov/diseases/communicable/sporotrichosis/fact_sheet.htm] +xref: ICD10CM:B42 +xref: ICD10CM:B42.9 +xref: ICD9CM:117.1 +xref: MSH:D013174 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:187078008 +xref: SNOMEDCT_US_2015_03_01:187488001 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: SNOMEDCT_US_2015_03_01:42094007 +xref: UMLS_CUI:C0038034 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:14489 +name: ureteral lymphoma +synonym: "lymphoma of ureter" EXACT [] +synonym: "ureteral Lymphoma" EXACT [NCI2004_11_17:C6175] +xref: NCI:C6175 +xref: UMLS_CUI:C1336876 +is_a: DOID:11819 ! ureter cancer + +[Term] +id: DOID:14490 +name: metastasis to the ureter +synonym: "metastatic neoplasm to the Ureter" EXACT [NCI2004_11_17:C7544] +synonym: "secondary malignant neoplasm of ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:94659001] +is_obsolete: true + +[Term] +id: DOID:14491 +name: regional ureteric cancer +synonym: "regional malignant ureteral tumor" EXACT [NCI2004_11_17:C8716] +synonym: "regional Ureteric carcinoma" EXACT [NCI2004_11_17:C9356] +xref: NCI:C8716 +xref: NCI:C9356 +xref: UMLS_CUI:C0854921 +is_a: DOID:4939 ! ureter carcinoma + +[Term] +id: DOID:14492 +name: metastatic neoplasm of ureter +synonym: "Ureter metastatic malignant neoplasm" EXACT [NCI2004_11_17:C27818] +is_obsolete: true + +[Term] +id: DOID:14495 +name: dumping syndrome +synonym: "Dumping (jejunal) syndrome" EXACT [SNOMEDCT_2005_07_31:197128007] +synonym: "Jejunal syndrome" EXACT [MTHICD9_2006:564.2] +xref: ICD10CM:K91.1 +xref: MSH:D004377 +xref: NCI:C2994 +xref: SNOMEDCT_US_2015_03_01:155785007 +xref: SNOMEDCT_US_2015_03_01:197128007 +xref: SNOMEDCT_US_2015_03_01:266458008 +xref: SNOMEDCT_US_2015_03_01:266527005 +xref: SNOMEDCT_US_2015_03_01:80193009 +xref: UMLS_CUI:C0013288 +is_a: DOID:8439 ! postgastrectomy syndrome + +[Term] +id: DOID:14497 +name: Wolman disease +synonym: "Acid esterase deficiency" EXACT [SNOMEDCT_2005_07_31:190795007] +synonym: "Acid lipase deficiency, NOS" EXACT [SNOMEDCT_2005_07_31:37896002] +synonym: "Wolman xanthomatosis" EXACT [CSP2005:1849-5821] +synonym: "Wolman's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:82500001] +synonym: "Wolman's or triglyceride storage type III disease" EXACT [MTHICD9_2006:272.7] +synonym: "Xanthomatosis, familial" EXACT [SNOMEDCT_2005_07_31:190797004] +synonym: "Xanthomatosis, familial (disorder)" EXACT [SNOMEDCT_2005_07_31:238074007] +xref: ICD10CM:E75.5 +xref: MSH:D015223 +xref: NCI:C61271 +xref: SNOMEDCT_US_2015_03_01:190795007 +xref: SNOMEDCT_US_2015_03_01:190797004 +xref: SNOMEDCT_US_2015_03_01:238074007 +xref: SNOMEDCT_US_2015_03_01:37896002 +xref: SNOMEDCT_US_2015_03_01:82500001 +xref: UMLS_CUI:C0043208 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:14498 +name: lipoid proteinosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Lipid proteinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:38692000] +synonym: "Lipoid proteinosis" EXACT [SNOMEDCT_2005_07_31:238950006] +synonym: "URBACH-WIETHE DISEASE" EXACT [] +xref: MSH:D008065 +xref: NCI:C84829 +xref: OMIM:247100 +xref: SNOMEDCT_US_2015_03_01:238950006 +xref: SNOMEDCT_US_2015_03_01:38692000 +xref: UMLS_CUI:C0023795 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:14499 +name: Fabry disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "alpha galactosidase deficiency" EXACT [CSP2005:1849-9034] +synonym: "Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:236536000] +synonym: "Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:190796008] +synonym: "Angiokeratoma Corporis Diffusum" EXACT [NCI2004_11_17:C27528] +synonym: "deficiency of melibiase" EXACT [SNOMEDCT_2005_07_31:124464003] +synonym: "Fabry's disease" EXACT [MTHICD9_2006:272.7] +synonym: "Fabry's disease" EXACT [SNOMEDCT_2005_07_31:190792005] +synonym: "Fabry's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:16652001] +xref: ICD10CM:E75.21 +xref: MSH:D000795 +xref: NCI:C27528 +xref: NCI:C84701 +xref: OMIM:301500 +xref: SNOMEDCT_US_2015_03_01:124464003 +xref: SNOMEDCT_US_2015_03_01:16652001 +xref: SNOMEDCT_US_2015_03_01:190792005 +xref: SNOMEDCT_US_2015_03_01:190796008 +xref: SNOMEDCT_US_2015_03_01:236536000 +xref: UMLS_CUI:C0002986 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:145 +name: papilledema associated with retinal disorder +is_obsolete: true + +[Term] +id: DOID:14500 +name: fucosidosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "A-fucosidase deficiency" EXACT [SNOMEDCT_2005_07_31:190937009] +synonym: "alpha fucosidase deficiency" EXACT [CSP2005:1849-8519] +synonym: "Fucosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:64716005] +xref: ICD10CM:E77.1 +xref: MSH:D005645 +xref: NCI:C61274 +xref: OMIM:230000 +xref: SNOMEDCT_US_2015_03_01:190937009 +xref: SNOMEDCT_US_2015_03_01:64716005 +xref: UMLS_CUI:C0016788 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:14501 +name: Sjogren-Larsson syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Sjogren Larsson syndrome" EXACT [CSP2005:2057-3666] +synonym: "Sjogren Larsson syndrome" EXACT [CSP2005:0726-9470] +synonym: "Sjogren Larsson syndrome" EXACT [CSP2005:1840-2225] +synonym: "Sjogren-Larsson syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:111303009] +synonym: "Sjogren-Larsson's syndrome" EXACT [SNOMEDCT_2005_07_31:205549003] +xref: MSH:D016111 +xref: NCI:C85070 +xref: OMIM:270200 +xref: SNOMEDCT_US_2015_03_01:111303009 +xref: SNOMEDCT_US_2015_03_01:205549003 +xref: UMLS_CUI:C0037231 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14502 +name: cholesterol ester storage disease +xref: MSH:D015217 +xref: SNOMEDCT_US_2015_03_01:57218003 +xref: UMLS_CUI:C0008384 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:14503 +name: neuronal ceroid lipofuscinosis +comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "hereditary ceroid lipofuscinosis" EXACT [CSP2005:1849-6833] +synonym: "neuronal ceroid lipofuscinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:42012007] +xref: ICD10CM:E75.4 +xref: MSH:D009472 +xref: NCI:C61257 +xref: OMIM:162350 +xref: OMIM:204200 +xref: OMIM:204300 +xref: OMIM:204500 +xref: OMIM:256730 +xref: OMIM:256731 +xref: OMIM:600143 +xref: OMIM:601780 +xref: OMIM:609055 +xref: OMIM:610003 +xref: OMIM:610127 +xref: OMIM:610951 +xref: OMIM:614706 +xref: OMIM:615362 +xref: ORDO:216 +xref: ORDO:79262 +xref: SNOMEDCT_US_2015_03_01:42012007 +xref: UMLS_CUI:C0027877 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:14504 +name: Niemann-Pick disease +alt_id: DOID:0050442 +alt_id: DOID:0050443 +alt_id: DOID:14770 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [CSP2005:1849-9151] +synonym: "Niemann-Pick disease type A" EXACT [] +synonym: "Niemann-Pick disease type B" EXACT [] +synonym: "Niemann-Pick disease type C" EXACT [] +synonym: "NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK" EXACT [] +synonym: "NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM" EXACT [] +synonym: "SPHINGOMYELIN LIPIDOSIS" EXACT [] +synonym: "Sphingomyelinase Deficiency Disease" EXACT [] +synonym: "Type A Niemann-Pick Disease" EXACT [] +xref: ICD10CM:E75.24 +xref: ICD10CM:E75.242 +xref: ICD10CM:E75.249 +xref: MSH:D009542 +xref: MSH:D052556 +xref: NCI:C61269 +xref: NCI:C85214 +xref: OMIM:257200 +xref: OMIM:257220 +xref: OMIM:607616 +xref: OMIM:607625 +xref: SNOMEDCT_US_2015_03_01:58459009 +xref: SNOMEDCT_US_2015_03_01:66751000 +xref: UMLS_CUI:C0028064 +xref: UMLS_CUI:C0220756 +is_a: DOID:1927 ! sphingolipidosis +is_a: DOID:4330 ! non-langerhans-cell histiocytosis + +[Term] +id: DOID:14507 +name: peripheral degeneration of cornea +synonym: "peripheral degeneration of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:89182000] +synonym: "peripheral degenerations of cornea" EXACT [ICD9CM_2006:371.48] +xref: ICD10CM:H18.46 +xref: ICD9CM:371.48 +xref: SNOMEDCT_US_2015_03_01:89182000 +xref: UMLS_CUI:C0155123 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:14512 +name: candidal paronychia +alt_id: DOID:14511 +def: "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." [url:http\://emedicine.medscape.com/article/1090632-overview, url:http\://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm] +synonym: "Candidiasis of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:49883006] +synonym: "candidiasis of skin and nails" EXACT [] +synonym: "Candidiasis of skin and nails (disorder)" EXACT [SNOMEDCT_2005_07_31:187014000] +synonym: "Candidiasis of skin and nails NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187018002] +xref: ICD10CM:B37.2 +xref: ICD9CM:112.3 +xref: SNOMEDCT_US_2015_03_01:187014000 +xref: SNOMEDCT_US_2015_03_01:187018002 +xref: UMLS_CUI:C0006842 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:14515 +name: WAGR syndrome +def: "A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes." [url:http\://en.wikipedia.org/wiki/WAGR_syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "11p partial monosomy syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:4135001] +synonym: "chromosome 11p13 deletion syndrome" EXACT [] +synonym: "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome" EXACT [NCI2004_11_17:C3718] +xref: MSH:D017624 +xref: NCI:C3718 +xref: OMIM:194072 +xref: SNOMEDCT_US_2015_03_01:4135001 +xref: UMLS_CUI:C0206115 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:14518 +name: Idiopathic cysts of iris and ciliary body +is_obsolete: true + +[Term] +id: DOID:14520 +name: adenovirus gastroenteritis +def: "An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf] +synonym: "adenoviral enteritis" EXACT [] +synonym: "Enteritis due to adenovirus" EXACT [ICD9CM_2006:008.62] +is_obsolete: true + +[Term] +id: DOID:14521 +name: cutaneous breast cancer +synonym: "cutaneous breast cancer" EXACT [NCI2004_11_17:C28311] +is_obsolete: true + +[Term] +id: DOID:14522 +name: partial arterial retinal occlusion +synonym: "Partial arterial retinal occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:776009] +synonym: "Partial Retinal Arterial Occlusion" EXACT [NCI2004_11_17:C35192] +synonym: "Partial retinal arterial occlusion" EXACT [ICD9CM_2006:362.33] +synonym: "Retinal partial arterial occlusion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193376004] +xref: ICD10CM:H34.21 +xref: ICD10CM:H34.219 +xref: ICD9CM:362.33 +xref: NCI:C35192 +xref: SNOMEDCT_US_2015_03_01:193376004 +xref: SNOMEDCT_US_2015_03_01:776009 +xref: UMLS_CUI:C0154839 +is_a: DOID:8483 ! retinal artery occlusion + +[Term] +id: DOID:14523 +name: Argyll Robertson pupil +synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [] +synonym: "Argyll Robertson pupil, atypical" EXACT [ICD9CM_2006:379.45] +synonym: "Atypical Argyll-Robertson pupil (disorder)" EXACT [SNOMEDCT_2005_07_31:21011008] +xref: ICD10CM:H57.01 +xref: ICD9CM:379.45 +xref: SNOMEDCT_US_2015_03_01:21011008 +xref: UMLS_CUI:C0155375 +is_a: DOID:11518 ! abnormal pupillary function + +[Term] +id: DOID:14524 +name: senile degeneration of brain +synonym: "Senile brain degen." EXACT [SNOMEDCT_2005_07_31:267687006] +synonym: "Senile brain degen." EXACT [SNOMEDCT_2005_07_31:154995000] +synonym: "Senile degeneration of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:45864009] +xref: ICD9CM:331.2 +xref: SNOMEDCT_US_2015_03_01:154995000 +xref: SNOMEDCT_US_2015_03_01:154996004 +xref: SNOMEDCT_US_2015_03_01:192804001 +xref: SNOMEDCT_US_2015_03_01:267687006 +xref: SNOMEDCT_US_2015_03_01:45864009 +xref: UMLS_CUI:C0154669 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:14525 +name: Reye syndrome +def: "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." [PMID:2680560, url:https\://en.wikipedia.org/wiki/Reye_syndrome] +synonym: "Reye's syndrome" EXACT [ICD9CM_2006:331.81] +synonym: "Reye's syndrome" EXACT [NCI2004_11_17:C34983] +synonym: "Reye's syndrome" EXACT [SNOMEDCT_2005_07_31:154998003] +synonym: "Reye's syndrome" EXACT [CSP2005:0944-8104] +synonym: "Reye's syndrome" EXACT [SNOMEDCT_2005_07_31:267688001] +synonym: "Reye's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:74351001] +xref: ICD10CM:G93.7 +xref: ICD9CM:331.81 +xref: MSH:D012202 +xref: NCI:C34983 +xref: SNOMEDCT_US_2015_03_01:154998003 +xref: SNOMEDCT_US_2015_03_01:267688001 +xref: SNOMEDCT_US_2015_03_01:74351001 +xref: UMLS_CUI:C0035400 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:14529 +name: external pathological resorption +xref: ICD10CM:K03.3 +xref: ICD9CM:521.42 +xref: SNOMEDCT_US_2015_03_01:41918006 +xref: SNOMEDCT_US_2015_03_01:43079004 +xref: UMLS_CUI:C0266878 +is_a: DOID:13240 ! tooth resorption + +[Term] +id: DOID:1453 +name: atrophic glossitis +synonym: "Atrophy of tongue papillae" EXACT [SNOMEDCT_2005_07_31:196588005] +synonym: "Glossitis, Hunter's" EXACT [MTHICD9_2006:529.4] +synonym: "Hunter's glossitis" EXACT [SNOMEDCT_2005_07_31:50644009] +synonym: "smooth atrophic tongue" EXACT [] +xref: ICD10CM:K14.4 +xref: ICD9CM:529.4 +xref: SNOMEDCT_US_2015_03_01:196585008 +xref: SNOMEDCT_US_2015_03_01:196586009 +xref: SNOMEDCT_US_2015_03_01:196588005 +xref: SNOMEDCT_US_2015_03_01:196589002 +xref: SNOMEDCT_US_2015_03_01:50644009 +xref: SNOMEDCT_US_2015_03_01:69279006 +xref: SNOMEDCT_US_2015_03_01:9491003 +xref: UMLS_CUI:C0155964 +is_a: DOID:1456 ! glossitis + +[Term] +id: DOID:14530 +name: syringomyelia and syringobulbia +synonym: "Syringomyelia and syringobulbia (disorder)" EXACT [SNOMEDCT_2005_07_31:192894009] +is_obsolete: true + +[Term] +id: DOID:14534 +name: malignant cardiac peripheral nerve sheath neoplasm +synonym: "MPNST of Heart" EXACT [NCI2004_11_17:C5367] +xref: NCI:C5367 +xref: UMLS_CUI:C1334569 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:14535 +name: malignant cardiac germ cell tumor +synonym: "malignant germ cell tumor of the Heart" EXACT [NCI2004_11_17:C5371] +xref: NCI:C5371 +xref: UMLS_CUI:C1334566 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:14539 +name: metastasis to heart +synonym: "metastatic tumor to the Heart" EXACT [NCI2004_11_17:C4889] +synonym: "secondary malignant neoplasm of heart (disorder)" EXACT [SNOMEDCT_2005_07_31:94327000] +is_obsolete: true + +[Term] +id: DOID:14542 +name: macular or paramacular focal retinitis and retinochoroiditis +is_obsolete: true + +[Term] +id: DOID:14544 +name: rete testis adenocarcinoma +def: "A rete testis neoplasm that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of rete testis" RELATED [] +synonym: "adenocarcinoma of the rete testis" EXACT [NCI2004_11_17:C8955] +xref: NCI:C8955 +xref: UMLS_CUI:C0863024 +is_a: DOID:5639 ! rete testis neoplasm + +[Term] +id: DOID:14545 +name: seminal vesicle adenocarcinoma +def: "A male reproductive organ cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +xref: NCI:C39906 +xref: UMLS_CUI:C1519233 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:14546 +name: sphenoidal sinus cancer +synonym: "malignant tumor of sphenoid sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:363428005] +synonym: "malignant tumor of Sphenoidal sinus" EXACT [NCI2004_11_17:C3543] +xref: ICD10CM:C31.3 +xref: ICD9CM:160.5 +xref: NCI:C3543 +xref: SNOMEDCT_US_2015_03_01:363428005 +xref: SNOMEDCT_US_2015_03_01:94067008 +xref: UMLS_CUI:C0153479 +is_a: DOID:0050619 ! paranasal sinus cancer + +[Term] +id: DOID:14547 +name: sphenoid sinus squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Sphenoidal sinus" EXACT [NCI2004_11_17:C6066] +xref: NCI:C6066 +xref: UMLS_CUI:C1336039 +is_a: DOID:14546 ! sphenoidal sinus cancer + +[Term] +id: DOID:14548 +name: steroid-induced glaucoma - borderline +synonym: "Borderline glaucoma steroid responder (disorder)" EXACT [SNOMEDCT_2005_07_31:193535007] +synonym: "Steroid responders borderline glaucoma" EXACT [ICD9CM_2006:365.03] +synonym: "Steroid-induced glaucoma - borderline (disorder)" EXACT [SNOMEDCT_2005_07_31:302895007] +xref: ICD9CM:365.03 +xref: SNOMEDCT_US_2015_03_01:193535007 +xref: SNOMEDCT_US_2015_03_01:302895007 +xref: UMLS_CUI:C0339572 +is_a: DOID:9283 ! borderline glaucoma + +[Term] +id: DOID:14549 +name: Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear +synonym: "Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear" EXACT [ICD9CM_2006:385.03] +synonym: "Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:89058008] +is_obsolete: true + +[Term] +id: DOID:1455 +name: geographic tongue +def: "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." [url:http\://en.wikipedia.org/wiki/Geographic_tongue] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign migratory glossitis" EXACT [] +synonym: "Glossitis areata exfoliativa" EXACT [MTHICD9_2006:529.1] +synonym: "Pityriasis linguae" EXACT [SNOMEDCT_2005_07_31:59032001] +xref: ICD10CM:A26.0 +xref: ICD10CM:K14.1 +xref: ICD9CM:529.1 +xref: MSH:D005929 +xref: NCI:C84588 +xref: OMIM:137400 +xref: SNOMEDCT_US_2015_03_01:155667007 +xref: SNOMEDCT_US_2015_03_01:266496009 +xref: SNOMEDCT_US_2015_03_01:59032001 +xref: UMLS_CUI:C0017677 +is_a: DOID:1453 ! atrophic glossitis + +[Term] +id: DOID:14550 +name: root resorption +xref: MSH:D012391 +xref: UMLS_CUI:C0035851 +is_a: DOID:13240 ! tooth resorption + +[Term] +id: DOID:14555 +name: Foster-Kennedy syndrome +xref: ICD10CM:H47.14 +xref: ICD9CM:377.04 +xref: MSH:D009901 +xref: SNOMEDCT_US_2015_03_01:87764000 +xref: UMLS_CUI:C0152112 +is_a: DOID:146 ! papilledema + +[Term] +id: DOID:14557 +name: primary pulmonary hypertension +def: "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." [url:http\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:http\://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:I27.0 +xref: ICD9CM:416.0 +xref: NCI:C97119 +xref: OMIM:178600 +xref: OMIM:265400 +xref: OMIM:615342 +xref: OMIM:615343 +xref: OMIM:615344 +xref: ORDO:422 +xref: SNOMEDCT_US_2015_03_01:155328008 +xref: SNOMEDCT_US_2015_03_01:26174007 +xref: SNOMEDCT_US_2015_03_01:266293003 +xref: UMLS_CUI:C0152171 +is_a: DOID:12326 ! chronic pulmonary heart disease + +[Term] +id: DOID:14558 +name: nontoxic multinodular goiter +synonym: "Non-toxic multinodular goiter (disorder)" EXACT [SNOMEDCT_2005_07_31:36241006] +synonym: "Non-toxic multinodular goitre" EXACT [SNOMEDCT_2005_07_31:154653006] +is_obsolete: true + +[Term] +id: DOID:14559 +name: anaerobic meningitis +xref: ICD9CM:320.81 +xref: UMLS_CUI:C0375197 +is_a: DOID:9470 ! bacterial meningitis + +[Term] +id: DOID:1456 +name: glossitis +synonym: "Glossitis (disorder)" EXACT [SNOMEDCT_2005_07_31:45534005] +synonym: "Glossitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196583001] +xref: ICD10CM:K14.0 +xref: ICD9CM:529.0 +xref: MSH:D005928 +xref: NCI:C112199 +xref: SNOMEDCT_US_2015_03_01:155666003 +xref: SNOMEDCT_US_2015_03_01:196583001 +xref: SNOMEDCT_US_2015_03_01:45534005 +xref: UMLS_CUI:C0017675 +is_a: DOID:10944 ! tongue disease + +[Term] +id: DOID:14566 +name: disease of cellular proliferation +alt_id: DOID:0000818 +def: "A disease that is characterized by abnormally rapid cell division." [url:http\://en.wikipedia.org/w/index.php?title=Cell_proliferation] +synonym: "cell process disease" EXACT [] +is_a: DOID:4 ! disease + +[Term] +id: DOID:1458 +name: postsurgical hypothyroidism +synonym: "Post-surgical hypothyroidism" EXACT [SNOMEDCT_2005_07_31:154662008] +synonym: "Postoperative hypothyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:27059002] +xref: ICD10CM:E89.0 +xref: ICD9CM:244.0 +xref: SNOMEDCT_US_2015_03_01:154662008 +xref: SNOMEDCT_US_2015_03_01:190275002 +xref: SNOMEDCT_US_2015_03_01:27059002 +xref: UMLS_CUI:C0154157 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:1459 +name: hypothyroidism +alt_id: DOID:11630 +def: "A thyroid gland disease which involves an underproduction of thyroid hormone." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/] +synonym: "Thyroid deficiency" EXACT [SNOMEDCT_2005_07_31:190274003] +synonym: "Thyroid insufficiency" EXACT [SNOMEDCT_2005_07_31:190290003] +xref: EFO:0004705 +xref: ICD10CM:E03.9 +xref: ICD9CM:244.9 +xref: MSH:D007037 +xref: NCI:C26800 +xref: SNOMEDCT_US_2015_03_01:154660000 +xref: SNOMEDCT_US_2015_03_01:190274003 +xref: SNOMEDCT_US_2015_03_01:190290003 +xref: SNOMEDCT_US_2015_03_01:237572004 +xref: SNOMEDCT_US_2015_03_01:267377003 +xref: SNOMEDCT_US_2015_03_01:267465007 +xref: SNOMEDCT_US_2015_03_01:40930008 +xref: UMLS_CUI:C0020676 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:146 +name: papilledema +xref: ICD10CM:H46.0 +xref: ICD10CM:H47.1 +xref: ICD10CM:H47.10 +xref: ICD9CM:377.0 +xref: ICD9CM:377.00 +xref: ICD9CM:377.31 +xref: MSH:D010211 +xref: NCI:C3307 +xref: SNOMEDCT_US_2015_03_01:111526001 +xref: SNOMEDCT_US_2015_03_01:155187009 +xref: SNOMEDCT_US_2015_03_01:194038006 +xref: SNOMEDCT_US_2015_03_01:194041002 +xref: SNOMEDCT_US_2015_03_01:248487006 +xref: SNOMEDCT_US_2015_03_01:423341008 +xref: SNOMEDCT_US_2015_03_01:423488006 +xref: SNOMEDCT_US_2015_03_01:73221001 +xref: UMLS_CUI:C0030353 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:1460 +name: atheroembolism of kidney +is_a: DOID:1461 ! cholesterol embolism + +[Term] +id: DOID:1461 +name: cholesterol embolism +def: "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." [url:http\://en.wikipedia.org/wiki/Cholesterol_embolism] +synonym: "atheroembolism" EXACT [] +synonym: "cholesterol crystal embolism " EXACT [] +synonym: "purple toe syndrome " EXACT [] +synonym: "trash foot " EXACT [] +synonym: "warfarin blue toe syndrome" EXACT [] +xref: ICD10CM:I75 +xref: ICD9CM:445 +xref: MSH:D017700 +xref: SNOMEDCT_US_2015_03_01:10690002 +xref: UMLS_CUI:C0149649 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:1465 +name: Salmonella septicemia +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Salmonella septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:49786009] +is_obsolete: true + +[Term] +id: DOID:14654 +name: prostatitis +xref: ICD10CM:N41 +xref: ICD10CM:N41.9 +xref: ICD9CM:601 +xref: ICD9CM:601.9 +xref: MSH:D011472 +xref: NCI:C26866 +xref: SNOMEDCT_US_2015_03_01:155907007 +xref: SNOMEDCT_US_2015_03_01:155911001 +xref: SNOMEDCT_US_2015_03_01:197962006 +xref: SNOMEDCT_US_2015_03_01:197971002 +xref: SNOMEDCT_US_2015_03_01:266637008 +xref: SNOMEDCT_US_2015_03_01:9713002 +xref: UMLS_CUI:C0033581 +is_a: DOID:47 ! prostate disease + +[Term] +id: DOID:1466 +name: Salmonella infectious disease +alt_id: DOID:9469 +subset: gram-negative_bacterial_infectious_disease +synonym: "localized Salmonella infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:14669 +name: acrodysostosis +def: "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency." [url:http\://children.webmd.com/acrodysostosis, url:http\://en.wikipedia.org/wiki/Acrodysostosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001248.htm, url:http\://www.umm.edu/ency/article/001248.htm] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C538179 +xref: OMIM:101800 +xref: OMIM:614613 +xref: SNOMEDCT_US_2015_03_01:66758006 +xref: UMLS_CUI:C0220659 +is_a: DOID:1934 ! dysostosis + +[Term] +id: DOID:1467 +name: serous labyrinthitis +def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." [url:http\://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false] +synonym: "acute serous labyrinthitis" EXACT [] +synonym: "serous labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:41674001] +xref: ICD9CM:386.31 +xref: SNOMEDCT_US_2015_03_01:41674001 +xref: UMLS_CUI:C0155504 +is_a: DOID:1468 ! labyrinthitis + +[Term] +id: DOID:14670 +name: hypertelorism, microtia, facial clefting syndrome +def: "An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia." [url:http\://ovidsp.tx.ovid.com/sp-3.11.0a/ovidweb.cgi?QS2=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, url:http\://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_omim&from_uid=11152141, url:http\://www.ncbi.nlm.nih.gov/pubmed/11152141, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Bixler Christian Gorlin syndrome" EXACT [] +synonym: "Bixler syndrome" EXACT [] +synonym: "Bixler-Christian-Gorlin syndrome" EXACT [] +synonym: "HMC syndrome" EXACT [] +synonym: "Hypertelorism-Microtia-Clefting Syndrome" EXACT [] +synonym: "Hypertelorism-microtia-facial clefting syndrome" EXACT [] +xref: MSH:C537632 +xref: OMIM:239800 +xref: UMLS_CUI:C0220742 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14671 +name: multiple intestinal atresia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Multiple gastrointestinal atresias (disorder)" EXACT [SNOMEDCT_2005_07_31:95472001] +xref: MSH:C562441 +xref: OMIM:243150 +xref: SNOMEDCT_US_2015_03_01:95472001 +xref: UMLS_CUI:C0220744 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14676 +name: congenital contricting bands +comment: OMIM mapping confirmed by DO. [SN]. +is_obsolete: true + +[Term] +id: DOID:14679 +name: VACTERL association +def: "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [url:http\://en.wikipedia.org/wiki/VACTERL_association, url:http\://ghr.nlm.nih.gov/condition/vacterl-association, url:http\://omim.org/entry/192350, url:http\://www.cincinnatichildrens.org/health/v/vacterl/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=887, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/486/viewAbstract] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "VACTERL/VATER association" EXACT [] +synonym: "vater ASSOCIATION" EXACT [] +synonym: "vater association (disorder)" EXACT [SNOMEDCT_2005_07_31:27742002] +synonym: "vater association [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205830006] +synonym: "VATER syndrome" RELATED [] +xref: ICD10CM:Q87.2 +xref: MSH:C536534 +xref: OMIM:192350 +xref: OMIM:276950 +xref: SNOMEDCT_US_2015_03_01:205830006 +xref: SNOMEDCT_US_2015_03_01:27742002 +xref: UMLS_CUI:C0220708 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:1468 +name: labyrinthitis +def: "A inner ear infectious disease which involves inflammation of the labyrinths." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS] +synonym: "Labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:23919004] +synonym: "Labyrinthitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194367003] +synonym: "Labyrinthitis, unspecified" EXACT [ICD9CM_2006:386.30] +synonym: "Unspecified labyrinthitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194363004] +xref: ICD10CM:H83.0 +xref: ICD10CM:H83.09 +xref: ICD9CM:386.3 +xref: ICD9CM:386.30 +xref: MSH:D007762 +xref: SNOMEDCT_US_2015_03_01:155239008 +xref: SNOMEDCT_US_2015_03_01:194363004 +xref: SNOMEDCT_US_2015_03_01:194367003 +xref: SNOMEDCT_US_2015_03_01:23919004 +xref: UMLS_CUI:C0022893 +is_a: DOID:3426 ! vestibular disease +is_a: DOID:3930 ! otitis interna + +[Term] +id: DOID:14680 +name: hereditary inflammatory vasculitis +synonym: "VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES" EXACT [] +is_obsolete: true + +[Term] +id: DOID:14681 +name: Silver-Russell syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Silver Russell Dwarfism" EXACT [] +xref: ICD10CM:Q87.1 +xref: MSH:D056730 +xref: NCI:C85068 +xref: OMIM:180860 +xref: SNOMEDCT_US_2015_03_01:15069006 +xref: UMLS_CUI:C0175693 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:14683 +name: Binder syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "binder type maxillonasal dysplasia" EXACT [] +xref: MSH:C536036 +xref: OMIM:155050 +xref: UMLS_CUI:C0220692 +is_a: DOID:2163 ! nasal cavity disease + +[Term] +id: DOID:14686 +name: Axenfeld-Rieger syndrome +def: "An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment." [url:http\://en.wikipedia.org/wiki/Axenfeld_syndrome, url:http\://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Anomaly, Rieger's" EXACT [MTHICD9_2006:743.44] +synonym: "Axenfeld syndrome " EXACT [] +synonym: "Hagedoom syndrome" RELATED [] +synonym: "RGS - Rieger syndrome" EXACT [SNOMEDCT_2005_07_31:204154009] +synonym: "Rieger's anomaly" EXACT [SNOMEDCT_2005_07_31:86628002] +xref: ICD10CM:Q13.81 +xref: OMIM:180500 +xref: OMIM:601499 +xref: OMIM:602482 +xref: ORDO:782 +xref: SNOMEDCT_US_2015_03_01:47507006 +xref: SNOMEDCT_US_2015_03_01:86628002 +xref: UMLS_CUI:C0265341 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14687 +name: diastrophic dysplasia +def: "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." [url:http\://emedicine.medscape.com/article/1257787-overview, url:http\://en.wikipedia.org/wiki/Diastrophic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK22219/] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q77.5 +xref: MSH:C536170 +xref: OMIM:222600 +xref: SNOMEDCT_US_2015_03_01:58561002 +xref: UMLS_CUI:C0220726 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:1469 +name: single major depressive episode in full remission +synonym: "Major depressive disorder, single episode in full remission" EXACT [ICD9CM_2006:296.26] +synonym: "Single major depressive episode, in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191606003] +is_obsolete: true + +[Term] +id: DOID:14692 +name: Smith-Lemli-Opitz syndrome +alt_id: DOID:4366 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [] +synonym: "Smith-Opitz-Inborn syndrome" EXACT [CSP2005:5002-0023] +xref: ICD10CM:E78.72 +xref: MSH:D019082 +xref: NCI:C85071 +xref: OMIM:270400 +xref: SNOMEDCT_US_2015_03_01:43929004 +xref: UMLS_CUI:C0175694 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:14693 +name: Clouston syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Clouston's hidrotic ectodermal dysplasia " EXACT [] +synonym: "Clouston's syndrome" EXACT [CSP2005:1254-7727] +synonym: "hidrotic ectodermal dysplasia" EXACT [] +synonym: "Hidrotic ectodermal dysplasia syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:54209007] +xref: MSH:D004476 +xref: OMIM:129500 +xref: SNOMEDCT_US_2015_03_01:54209007 +xref: UMLS_CUI:C0162361 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14694 +name: Johanson-Blizzard syndrome +def: "An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner." [url:http\://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Johanson-Blizzard syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:75979009] +xref: MSH:C535880 +xref: OMIM:243800 +xref: SNOMEDCT_US_2015_03_01:75979009 +xref: UMLS_CUI:C0175692 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14695 +name: galactokinase deficiency +def: "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase." [url:http\://en.wikipedia.org/wiki/Galactokinase_deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Galactosemia II" EXACT [SNOMEDCT_2005_07_31:18612007] +xref: ICD10CM:E74.29 +xref: MSH:D005693 +xref: OMIM:230200 +xref: SNOMEDCT_US_2015_03_01:124302001 +xref: SNOMEDCT_US_2015_03_01:18612007 +xref: UMLS_CUI:C0268155 +is_a: DOID:9870 ! galactosemia + +[Term] +id: DOID:14699 +name: thrombocytopenia-absent radius syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "chromosome 1q21.1 deletion syndrome" EXACT [] +synonym: "Radial aplasia-thrombocytopenia syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:85589009] +synonym: "Thrombocytopenia with absent radii (TAR) syndrome" EXACT [MTHICD9_2006:287.33] +xref: ICD10CM:Q87.2 +xref: MSH:C536940 +xref: NCI:C99038 +xref: OMIM:274000 +xref: SNOMEDCT_US_2015_03_01:85589009 +xref: UMLS_CUI:C0175703 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:1470 +name: major depressive disorder +alt_id: DOID:10614 +alt_id: DOID:2240 +alt_id: DOID:2241 +alt_id: DOID:7580 +def: "An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities." [url:http\://en.wikipedia.org/wiki/Major_depressive_disorder] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "recurrent major depression" EXACT [] +synonym: "single major depressive episode" EXACT [] +xref: ICD10CM:F32 +xref: ICD10CM:F32.9 +xref: ICD10CM:F33 +xref: ICD10CM:F33.9 +xref: ICD9CM:296.2 +xref: ICD9CM:296.20 +xref: ICD9CM:296.3 +xref: ICD9CM:296.30 +xref: NCI:C34796 +xref: OMIM:608520 +xref: OMIM:608691 +xref: SNOMEDCT_US_2015_03_01:191599006 +xref: SNOMEDCT_US_2015_03_01:191600009 +xref: SNOMEDCT_US_2015_03_01:191607007 +xref: SNOMEDCT_US_2015_03_01:191608002 +xref: SNOMEDCT_US_2015_03_01:191609005 +xref: SNOMEDCT_US_2015_03_01:191617002 +xref: SNOMEDCT_US_2015_03_01:192366006 +xref: SNOMEDCT_US_2015_03_01:268620009 +xref: SNOMEDCT_US_2015_03_01:268621008 +xref: SNOMEDCT_US_2015_03_01:36923009 +xref: SNOMEDCT_US_2015_03_01:66344007 +xref: UMLS_CUI:C0024517 +xref: UMLS_CUI:C0154409 +is_a: DOID:1595 ! endogenous depression + +[Term] +id: DOID:14701 +name: propionic acidemia +alt_id: DOID:14706 +def: "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy." [url:http\://en.wikipedia.org/wiki/Propionic_acidemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "GLYCINEMIA, KETOTIC" EXACT [] +synonym: "ketotic glycinemia" EXACT [] +synonym: "KETOTIC HYPERGLYCINEMIA" EXACT [] +synonym: "ketotic II glycinemia" EXACT [] +synonym: "propionic aciduria" EXACT [] +synonym: "propionyl-CoA carboxylase deficiency" EXACT [] +xref: ICD10CM:E71.121 +xref: MSH:D056693 +xref: NCI:C85030 +xref: OMIM:606054 +xref: SNOMEDCT_US_2015_03_01:124718009 +xref: SNOMEDCT_US_2015_03_01:18979005 +xref: SNOMEDCT_US_2015_03_01:237948001 +xref: SNOMEDCT_US_2015_03_01:360364008 +xref: SNOMEDCT_US_2015_03_01:367417005 +xref: SNOMEDCT_US_2015_03_01:69080001 +xref: UMLS_CUI:C0268579 +xref: UMLS_CUI:C2717876 +is_a: DOID:0060159 ! organic acidemia + +[Term] +id: DOID:14702 +name: branchiootorenal syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Branchio-Oto-renal syndrome" EXACT [MTH:NOCODE] +synonym: "Branchio-otorenal dysplasia" EXACT [SNOMEDCT_2005_07_31:205806009] +synonym: "branchiootorenal dysplasia" EXACT [] +synonym: "Melnick-Fraser syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:290006] +xref: MSH:D019280 +xref: NCI:C98983 +xref: OMIM:113650 +xref: OMIM:610896 +xref: SNOMEDCT_US_2015_03_01:205806009 +xref: SNOMEDCT_US_2015_03_01:290006 +xref: UMLS_CUI:C0265234 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14705 +name: Pfeiffer syndrome +def: "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Pfeiffer_syndrome, url:http\://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, url:http\://www.faces-cranio.org/Disord/Pfeiffer.htm, url:http\://www.healthline.com/galecontent/pfeiffer-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acrocephalosyndactylia type V" EXACT [] +xref: MSH:D000168 +xref: NCI:C99100 +xref: OMIM:101600 +xref: SNOMEDCT_US_2015_03_01:70410008 +xref: UMLS_CUI:C0220658 +is_a: DOID:12960 ! acrocephalosyndactylia + +[Term] +id: DOID:14711 +name: FG syndrome +def: "An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern." [url:http\://en.wikipedia.org/wiki/FG_syndrome, url:http\://ghr.nlm.nih.gov/condition/fg-syndrome, url:http\://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Keller syndrome" EXACT [] +synonym: "Opitz-Kaveggia syndrome" EXACT [] +xref: MSH:C537923 +xref: OMIM:300321 +xref: OMIM:300406 +xref: OMIM:300422 +xref: OMIM:300581 +xref: OMIM:305450 +xref: ORDO:323 +xref: ORDO:93932 +xref: SNOMEDCT_US_2015_03_01:49984004 +xref: UMLS_CUI:C0220769 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:14717 +name: centronuclear myopathy +def: "A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery." [url:http\://en.wikipedia.org/wiki/Centronuclear_myopathy, url:http\://ghr.nlm.nih.gov/condition/centronuclear-myopathy] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "myotubular myopathy" EXACT [MTHICD9_2006:359.0] +xref: MSH:D020914 +xref: OMIM:160150 +xref: OMIM:255200 +xref: OMIM:310400 +xref: OMIM:614408 +xref: OMIM:614807 +xref: OMIM:615959 +xref: ORDO:595 +xref: ORDO:596 +xref: ORDO:69186 +xref: ORDO:69189 +xref: SNOMEDCT_US_2015_03_01:193223007 +xref: SNOMEDCT_US_2015_03_01:82077006 +xref: UMLS_CUI:C0175709 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:14720 +name: type I Ehlers-Danlos syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Ehlers-Danlos syndrome, type 1 (disorder)" EXACT [SNOMEDCT_2005_07_31:83470009] +xref: MSH:C536194 +xref: OMIM:130000 +xref: SNOMEDCT_US_2015_03_01:83470009 +xref: UMLS_CUI:C0268335 +is_a: DOID:13359 ! Ehlers-Danlos syndrome + +[Term] +id: DOID:14723 +name: beta-ketothiolase deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [] +synonym: "3-ketothiolase deficiency" EXACT [] +synonym: "3-oxothiolase deficiency" EXACT [] +synonym: "alpha-methylacetoaceticaciduria" EXACT [] +synonym: "Mitochondrial acetoacetyl-CoA Thiolase deficiency" EXACT [] +synonym: "peroxisomal thiolase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:238067002] +xref: MSH:C535818 +xref: OMIM:203750 +xref: SNOMEDCT_US_2015_03_01:238067002 +xref: UMLS_CUI:C1533628 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14725 +name: autosomal dominant microcephaly +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C537323 +xref: OMIM:156580 +xref: UMLS_CUI:C0220693 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14727 +name: dominant cogenital severe sensorineural deafness +is_obsolete: true + +[Term] +id: DOID:14731 +name: Weaver syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "WEAVER-LIKE SYNDROME" EXACT [] +synonym: "Weaver-Williams syndrome" EXACT [] +xref: MSH:C562443 +xref: OMIM:277590 +xref: UMLS_CUI:C0220765 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:14735 +name: hereditary angioedema +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HANE" EXACT [CSP2005:1849-1576] +synonym: "Hereditary angioedema" EXACT [MTHICD9_2006:277.6] +synonym: "Hereditary angioneurotic edema (disorder)" EXACT [SNOMEDCT_2005_07_31:82966003] +xref: MSH:D054179 +xref: NCI:C84758 +xref: OMIM:106100 +xref: OMIM:610618 +xref: SNOMEDCT_US_2015_03_01:82966003 +xref: UMLS_CUI:C0019243 +is_a: DOID:1558 ! angioedema + +[Term] +id: DOID:14737 +name: craniofrontonasal syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "craniofrontonasal dysplasia" EXACT [] +xref: MSH:C536456 +xref: OMIM:304110 +xref: UMLS_CUI:C0220767 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:14739 +name: progressive high-tone neural deafness +is_obsolete: true + +[Term] +id: DOID:1474 +name: aggressive periodontitis +def: "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." [url:http\://en.wikipedia.org/wiki/Aggressive_periodontitis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "juvenile periodontitis" EXACT [CSP2005:0828-4592] +xref: ICD10CM:K05.2 +xref: MSH:D010520 +xref: OMIM:170650 +xref: OMIM:608526 +xref: SNOMEDCT_US_2015_03_01:2624008 +xref: SNOMEDCT_US_2015_03_01:449908004 +xref: SNOMEDCT_US_2015_03_01:49965002 +xref: UMLS_CUI:C0031106 +is_a: DOID:824 ! periodontitis + +[Term] +id: DOID:14743 +name: trichorhinophalangeal syndrome type I +alt_id: DOID:0050552 +def: "An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)." [url:http\://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract] +comment: MERGED COMMENT:\nTARGET COMMENT: OMIM mapping confirmed by DO. [LS].\n--------------------\nSOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Sugio-Kajii syndrome" EXACT [] +synonym: "Trichorhinophalangeal dysplasia type I" RELATED [MTH:NOCODE] +synonym: "type I trichorhinophalangeal syndrome" EXACT [] +synonym: "type III trichorhinophalangeal syndrome" EXACT [] +xref: MSH:C536820 +xref: NCI:C75109 +xref: OMIM:190350 +xref: OMIM:190351 +xref: SNOMEDCT_US_2015_03_01:239016009 +xref: SNOMEDCT_US_2015_03_01:254091006 +xref: UMLS_CUI:C0432233 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14744 +name: Partington syndrome +def: "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria." [PMID:23622180, url:http\://ghr.nlm.nih.gov/condition/partington-syndrome] +comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping submitted by NeuroDevNet. [LS]. +synonym: "X-linked Russell-Silver syndrome" EXACT [] +xref: MSH:C562446 +xref: OMIM:309510 +xref: OMIM:312780 +xref: ORDO:94083 +xref: UMLS_CUI:C0220775 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:14748 +name: Sotos syndrome +def: "An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life." [url:http\://en.wikipedia.org/wiki/Cerebral_gigantism] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "cerebral gigantism" EXACT [] +xref: ICD10CM:Q87.3 +xref: MSH:D058495 +xref: NCI:C75019 +xref: OMIM:117550 +xref: OMIM:601451 +xref: OMIM:614753 +xref: ORDO:821 +xref: SNOMEDCT_US_2015_03_01:75968004 +xref: UMLS_CUI:C0175695 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14749 +name: methylmalonic acidemia +alt_id: DOID:14782 +alt_id: DOID:14802 +def: "An organic acidemia that involves an accumulation of methylmalonic acid in the blood." [url:http\://ghr.nlm.nih.gov/condition/methylmalonic-acidemia, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002147/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "METHYLMALONIC ACIDEMIA, cblA TYPE" EXACT [] +synonym: "METHYLMALONIC ACIDEMIA, cblB TYPE" EXACT [] +synonym: "methylmalonic aciduria" EXACT [] +synonym: "methylmalonic aciduria cblB type" EXACT [] +synonym: "METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY" EXACT [] +synonym: "methylmalonic aciduria mut type" EXACT [] +synonym: "methylmalonic aciduria type cblA" EXACT [] +synonym: "methylmalonic aciduria type cblB" EXACT [] +synonym: "METHYLMALONIC ACIDURIA, mut TYPE" EXACT [] +synonym: "METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE" EXACT [] +synonym: "METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE" EXACT [] +synonym: "METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency" EXACT [] +synonym: "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A" EXACT [] +synonym: "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B" EXACT [] +xref: OMIM:251100 +xref: OMIM:251110 +is_a: DOID:0060159 ! organic acidemia + +[Term] +id: DOID:1475 +name: lymphangioma +synonym: "benign lymphangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253057002] +synonym: "Congenital lymphangioma" EXACT [SNOMEDCT_2005_07_31:189200000] +xref: ICD10CM:D18.1 +xref: ICD9CM:228.1 +xref: MSH:D008202 +xref: NCI:C8965 +xref: SNOMEDCT_US_2015_03_01:154625006 +xref: SNOMEDCT_US_2015_03_01:189200000 +xref: SNOMEDCT_US_2015_03_01:189875000 +xref: SNOMEDCT_US_2015_03_01:253057002 +xref: SNOMEDCT_US_2015_03_01:254836000 +xref: SNOMEDCT_US_2015_03_01:269646001 +xref: SNOMEDCT_US_2015_03_01:400178008 +xref: SNOMEDCT_US_2015_03_01:69044001 +xref: SNOMEDCT_US_2015_03_01:93168006 +xref: UMLS_CUI:C0024221 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:14753 +name: isovaleric acidemia +def: "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine." [url:http\://en.wikipedia.org/wiki/Isovaleric_acidemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [] +synonym: "isovaleric aciduria" EXACT [] +synonym: "Isovaleryl-CoA dehydrogenase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:87827003] +xref: ICD10CM:E71.110 +xref: MSH:C538167 +xref: NCI:C98964 +xref: OMIM:243500 +xref: SNOMEDCT_US_2015_03_01:87827003 +xref: UMLS_CUI:C0268575 +is_a: DOID:0060159 ! organic acidemia + +[Term] +id: DOID:14755 +name: argininosuccinic aciduria +def: "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine." [url:http\://en.wikipedia.org/wiki/Argininosuccinic_aciduria] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Argininosuccinate lyase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:41013004] +synonym: "argininosuccinic acidemia" EXACT [] +synonym: "arginosuccinase deficiency" EXACT [CSP2005:1849-9435] +synonym: "deficiency of argininosuccinate lyase (disorder)" EXACT [SNOMEDCT_2005_07_31:124630007] +xref: MSH:D056807 +xref: NCI:C84569 +xref: OMIM:207900 +xref: SNOMEDCT_US_2015_03_01:124630007 +xref: SNOMEDCT_US_2015_03_01:41013004 +xref: UMLS_CUI:C0268547 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:14756 +name: autosomal dominant type IV Ehlers-Danlos syndrome +xref: OMIM:130050 +is_a: DOID:13359 ! Ehlers-Danlos syndrome + +[Term] +id: DOID:14757 +name: type III Ehlers-Danlos syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Ehlers-Danlos syndrome, type 3 (disorder)" EXACT [SNOMEDCT_2005_07_31:30652003] +xref: MSH:C536196 +xref: OMIM:130020 +xref: SNOMEDCT_US_2015_03_01:30652003 +xref: UMLS_CUI:C0268337 +is_a: DOID:13359 ! Ehlers-Danlos syndrome + +[Term] +id: DOID:14759 +name: autosomal recessive type IV Ehlers-Danlos syndrome +synonym: "Ehlers-Danlos syndrome, recessive type 4 (disorder)" EXACT [SNOMEDCT_2005_07_31:70610001] +xref: SNOMEDCT_US_2015_03_01:70610001 +xref: UMLS_CUI:C0268340 +is_a: DOID:13359 ! Ehlers-Danlos syndrome + +[Term] +id: DOID:14761 +name: Greig cephalopolysyndactyly syndrome +alt_id: DOID:9251 +def: "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." [url:http\://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, url:http\://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "polysyndactyly with peculiars skull shape" EXACT [] +xref: MSH:C537300 +xref: NCI:C35255 +xref: OMIM:175700 +xref: SNOMEDCT_US_2015_03_01:32985001 +xref: UMLS_CUI:C0265306 +is_a: DOID:12960 ! acrocephalosyndactylia + +[Term] +id: DOID:14762 +name: calcaneonavicular coalition +def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Multiple synostosis syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:62628008] +synonym: "SYNOSTOSES, TARSAL, CARPAL AND DIGITAL" EXACT [] +xref: OMIM:186400 +xref: SNOMEDCT_US_2015_03_01:62628008 +xref: UMLS_CUI:C0175700 +is_a: DOID:11971 ! synostosis + +[Term] +id: DOID:14764 +name: Larsen syndrome +def: "An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities." [url:http\://en.wikipedia.org/wiki/Larsen_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "dominant larsen syndrome" EXACT [] +xref: OMIM:150250 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14766 +name: renal agenesis +synonym: "hereditary renal aplasia" EXACT [] +synonym: "hereditary urogenital adysplasia" EXACT [] +synonym: "renal adysplasia" EXACT [] +synonym: "renal aplasia" EXACT [] +xref: OMIM:191830 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:14768 +name: Saethre-Chotzen syndrome +def: "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." [url:http\://children.webmd.com/saethre-chotzen-syndrome, url:http\://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, url:http\://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, url:http\://www.faces-cranio.org/Disord/Saethre.htm, url:http\://www.healthline.com/galecontent/saethre-chotzen-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acrocephalosyndactyly type III" RELATED [] +xref: MSH:D000168 +xref: NCI:C75034 +xref: OMIM:101400 +xref: SNOMEDCT_US_2015_03_01:390726000 +xref: SNOMEDCT_US_2015_03_01:390746005 +xref: SNOMEDCT_US_2015_03_01:83015004 +xref: UMLS_CUI:C0175699 +is_a: DOID:12960 ! acrocephalosyndactylia + +[Term] +id: DOID:14773 +name: cartilage-hair hypoplasia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [] +synonym: "Metaphyseal chondrodysplasia, McKusick type" EXACT [SNOMEDCT_2005_07_31:234421004] +xref: MSH:C535916 +xref: NCI:C61245 +xref: OMIM:250250 +xref: SNOMEDCT_US_2015_03_01:234421004 +xref: SNOMEDCT_US_2015_03_01:7720002 +xref: UMLS_CUI:C0220748 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:14775 +name: type VI Ehlers-Danlos syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "brittle cornea syndrome" EXACT [] +synonym: "Kyphoscoliosis type" EXACT [SNOMEDCT_2005_07_31:25606004] +xref: MSH:C536198 +xref: OMIM:225400 +xref: OMIM:229200 +xref: SNOMEDCT_US_2015_03_01:25606004 +xref: UMLS_CUI:C0268342 +is_a: DOID:13359 ! Ehlers-Danlos syndrome + +[Term] +id: DOID:14777 +name: benign familial neonatal epilepsy +synonym: "familial neonatal seizures (disorder)" EXACT [SNOMEDCT_2005_07_31:279953009] +xref: MSH:D020936 +xref: SNOMEDCT_US_2015_03_01:230410004 +xref: SNOMEDCT_US_2015_03_01:279953009 +xref: UMLS_CUI:C0220669 +is_a: DOID:0050702 ! neonatal period electroclinical syndrome + +[Term] +id: DOID:14778 +name: blepharophimosis, ptosis, and epicanthus inversus syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Blepharophimosis, ptosis, epicanthus inversus syndrome" RELATED [] +xref: MSH:C562419 +xref: OMIM:110100 +xref: SNOMEDCT_US_2015_03_01:79833006 +xref: UMLS_CUI:C0220663 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:14780 +name: KBG syndrome +def: "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C537015 +xref: OMIM:148050 +xref: ORDO:2332 +xref: UMLS_CUI:C0220687 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:14784 +name: olivopontocerebellar atrophy +alt_id: DOID:12708 +def: "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives." [url:http\://www.ninds.nih.gov/disorders/opca/opca.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dejerine-Thomas syndrome" EXACT [MTHICD9_2006:333.0] +synonym: "Thomas' syndrome" EXACT [SNOMEDCT_2005_07_31:37250002] +synonym: "WADIA-SWAMI SYNDROME" EXACT [] +xref: ICD10:G238 +xref: MSH:D009849 +xref: NCI:C84947 +xref: SNOMEDCT_US_2015_03_01:67761004 +xref: UMLS_CUI:C0028968 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:14787 +name: Fryns syndrome +comment: OMIM mapping confirmed by DO. [SN]. +is_obsolete: true + +[Term] +id: DOID:14789 +name: spondyloepiphyseal dysplasia congenita +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Late Spondyloepiphyseal Dysplasia" EXACT [MTH:NOCODE] +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT" EXACT [] +xref: OMIM:183900 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia + +[Term] +id: DOID:14791 +name: Leber congenital amaurosis +def: "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness." [url:http\://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "LCA" EXACT [] +synonym: "Leber congenital amaurosis type 13" EXACT [] +synonym: "Leber congenital amaurosis type 14" EXACT [] +synonym: "Leber's amaurosis (disorder)" EXACT [SNOMEDCT_2005_07_31:193413001] +synonym: "Leber's congenital amaurosis" EXACT [CSP2005:1114-9698] +synonym: "Leber's disease" EXACT [CSP2005:5000-0048] +xref: MSH:D057130 +xref: OMIM:204000 +xref: OMIM:204100 +xref: OMIM:604232 +xref: OMIM:604393 +xref: OMIM:604537 +xref: OMIM:608553 +xref: OMIM:610142 +xref: OMIM:610612 +xref: OMIM:611755 +xref: OMIM:612712 +xref: OMIM:613341 +xref: OMIM:613826 +xref: OMIM:613829 +xref: OMIM:613835 +xref: OMIM:613837 +xref: OMIM:614186 +xref: OMIM:615360 +xref: ORDO:65 +xref: SNOMEDCT_US_2015_03_01:193413001 +xref: UMLS_CUI:C0339527 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:14793 +name: hypohidrotic ectodermal dysplasia +alt_id: DOID:0050446 +alt_id: DOID:0050447 +def: "A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)." [url:http\://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1112/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "anhidrotic ectodermal dysplasia 3" EXACT [] +synonym: "Christ-Siemens-Touraine Syndrome" EXACT [] +synonym: "Ectodermal Dysplasia 1, Anhydrotic" EXACT [] +synonym: "Hypohidrotic X-linked ectodermal dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:239007005] +xref: MSH:D053358 +xref: NCI:C84562 +xref: OMIM:129490 +xref: OMIM:224900 +xref: OMIM:300291 +xref: OMIM:305100 +xref: SNOMEDCT_US_2015_03_01:239007005 +xref: SNOMEDCT_US_2015_03_01:4826006 +xref: SNOMEDCT_US_2015_03_01:7731005 +xref: UMLS_CUI:C0162359 +is_a: DOID:0050177 ! monogenic disease + +[Term] +id: DOID:14796 +name: Dubowitz Syndrome +def: "A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids." [url:http\://en.wikipedia.org/wiki/Dubowitz_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dubowitz's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:2593002] +xref: ICD10CM:Q87.1 +xref: MEDDRA:10059589 +xref: MSH:C535718 +xref: OMIM:223370 +xref: SNOMEDCT_US_2015_03_01:2593002 +xref: UMLS_CUI:C0175691 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:14798 +name: Blount's disease +def: "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally." [url:http\://en.wikipedia.org/wiki/Blount%27s_disease, url:http\://www.columbiaortho.org/children/blountsdisease.html, url:http\://www.e-radiography.net/radpath/b/blountsdisease.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001584.htm, url:http\://www.wheelessonline.com/ortho/blounts_disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Blount disease" EXACT [] +synonym: "familial infantile type osteochondrosis deformans tibiae" EXACT [] +xref: MSH:C536237 +xref: OMIM:188700 +xref: OMIM:259200 +xref: UMLS_CUI:C0220757 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:1483 +name: gingival disease +synonym: "gingiva disorder" EXACT [CSP2005:0828-2406] +synonym: "Gingival disease" EXACT [SNOMEDCT_2005_07_31:266489007] +synonym: "Gingival disease" EXACT [SNOMEDCT_2005_07_31:155642009] +synonym: "Gingival disease (disorder)" EXACT [SNOMEDCT_2005_07_31:18718003] +xref: MSH:D005882 +xref: SNOMEDCT_US_2015_03_01:155642009 +xref: SNOMEDCT_US_2015_03_01:18718003 +xref: SNOMEDCT_US_2015_03_01:266489007 +xref: UMLS_CUI:C0017563 +is_a: DOID:3388 ! periodontal disease + +[Term] +id: DOID:1485 +name: cystic fibrosis +alt_id: DOID:12447 +alt_id: DOID:13383 +alt_id: DOID:14395 +alt_id: DOID:1484 +def: "An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs." [url:http\://en.wikipedia.org/wiki/Cystic_fibrosis, url:http\://ghr.nlm.nih.gov/condition/cystic-fibrosis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cf/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "CF" EXACT [] +synonym: "mucoviscidosis" EXACT [] +xref: EFOpat_id:49 +xref: ICD10CM:E84 +xref: ICD10CM:E84.9 +xref: ICD9CM:277.0 +xref: MSH:D003550 +xref: NCI:C2975 +xref: OMIM:219700 +xref: SNOMEDCT_US_2015_03_01:154767009 +xref: SNOMEDCT_US_2015_03_01:190905008 +xref: SNOMEDCT_US_2015_03_01:190911006 +xref: SNOMEDCT_US_2015_03_01:85809002 +xref: UMLS_CUI:C0010674 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:1486 +name: secondary syphilitic chorioretinitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilitic chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:66281009] +synonym: "Syphilitic chorioretinitis (secondary)" EXACT [ICD9CM_2006:091.51] +is_obsolete: true + +[Term] +id: DOID:1487 +name: secondary syphilitic uveitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilitic uveitis (disorder)" EXACT [SNOMEDCT_2005_07_31:70983007] +synonym: "secondary syphilitic uveitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186857000] +synonym: "Syphilitic uveitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:186855008] +synonym: "Syphilitic uveitis, unspecified" EXACT [ICD9CM_2006:091.50] +synonym: "Uveitis due to secondary syphilis" EXACT [ICD9CM_2006:091.5] +synonym: "Uveitis due to secondary syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:186854007] +is_obsolete: true + +[Term] +id: DOID:1491 +name: corneal anesthesia and hypoesthesia +is_obsolete: true + +[Term] +id: DOID:1492 +name: eye and adnexa disease +def: "A sensory system disease that is located_in the eye or the adnexa of the eye." [url:http\://en.wikipedia.org/wiki/Category\:Diseases_of_the_eye_and_adnexa] +xref: ICD10CM:H35.00 +xref: ICD9CM:362.10 +xref: SNOMEDCT_US_2015_03_01:193355009 +xref: SNOMEDCT_US_2015_03_01:31411005 +xref: SNOMEDCT_US_2015_03_01:42873008 +xref: UMLS_CUI:C0004608 +is_a: DOID:0050155 ! sensory system disease + +[Term] +id: DOID:1495 +name: cystic echinococcosis +alt_id: DOID:13256 +alt_id: DOID:13708 +alt_id: DOID:14154 +alt_id: DOID:1493 +def: "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] +synonym: "Echinococcus granulosus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:75006000] +synonym: "Echinococcus granulosus infection of lung" EXACT [ICD9CM_2006:122.1] +synonym: "Echinococcus granulosus infection of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:75388006] +synonym: "Echinococcus granulosus infection of thyroid (disorder)" EXACT [SNOMEDCT_2005_07_31:65963007] +synonym: "Echinococcus granulosus infection, unspecified" EXACT [ICD9CM_2006:122.4] +synonym: "echinococcus granulosus infectious disease" EXACT [] +synonym: "echinococcus granulosus infectious disease of liver" EXACT [] +synonym: "Echinococcus granulosus infectious disease of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:20790006] +synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [] +synonym: "Liver echinococcus granulosus (disorder)" EXACT [SNOMEDCT_2005_07_31:187133008] +synonym: "lung echinococcus granulosus" EXACT [] +synonym: "lung echinococcus granulosus (disorder)" EXACT [SNOMEDCT_2005_07_31:187134002] +synonym: "Thyroid echinococcus granulosus (disorder)" EXACT [SNOMEDCT_2005_07_31:187135001] +synonym: "unilocular echinococcosis" EXACT [] +synonym: "unilocular hydatid disease" EXACT [] +synonym: "Unspecified echinococcus granulosus (disorder)" EXACT [SNOMEDCT_2005_07_31:187138004] +xref: ICD10CM:B67.4 +xref: ICD9CM:122.4 +xref: SNOMEDCT_US_2015_03_01:187138004 +xref: SNOMEDCT_US_2015_03_01:75006000 +xref: UMLS_CUI:C0152068 +is_a: DOID:1496 ! echinococcosis + +[Term] +id: DOID:1496 +name: echinococcosis +alt_id: DOID:12149 +alt_id: DOID:2783 +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." [url:http\://emedicine.medscape.com/article/178648-overview, url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis] +synonym: "echinococcal disease" EXACT [] +synonym: "Echinococcosis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:26103000] +synonym: "Echinococcosis, unspecified, of liver" EXACT [ICD9CM_2006:122.8] +synonym: "Echinococcosis, unspecified, of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:187523006] +synonym: "hepatic echinococcosis" EXACT [CSP2005:1754-8052] +synonym: "hydatid disease" EXACT [] +synonym: "hydatidosis" EXACT [] +synonym: "Liver echinococcus unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187142001] +synonym: "pulmonary echinococcosis" EXACT [] +xref: ICD10CM:B67 +xref: ICD10CM:B67.90 +xref: ICD9CM:122 +xref: MSH:D004443 +xref: NCI:C84682 +xref: SNOMEDCT_US_2015_03_01:154414008 +xref: SNOMEDCT_US_2015_03_01:187143006 +xref: SNOMEDCT_US_2015_03_01:74942003 +xref: UMLS_CUI:C0013502 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:1498 +name: cholera +def: "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what, url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html] +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +synonym: "(Cholera) or (Vibrio cholerae)" EXACT [SNOMEDCT_2005_07_31:186087007] +synonym: "Cholera - Vibrio cholerae (disorder)" EXACT [SNOMEDCT_2005_07_31:186088002] +synonym: "Cholera due to Vibrio cholerae" EXACT [ICD9CM_2006:001.0] +xref: ICD10CM:A00 +xref: ICD10CM:A00.0 +xref: ICD10CM:A00.9 +xref: ICD9CM:001 +xref: ICD9CM:001.0 +xref: ICD9CM:001.9 +xref: MSH:D002771 +xref: SNOMEDCT_US_2015_03_01:154269008 +xref: SNOMEDCT_US_2015_03_01:186087007 +xref: SNOMEDCT_US_2015_03_01:186088002 +xref: SNOMEDCT_US_2015_03_01:186089005 +xref: SNOMEDCT_US_2015_03_01:187267007 +xref: SNOMEDCT_US_2015_03_01:61972007 +xref: SNOMEDCT_US_2015_03_01:63650001 +xref: UMLS_CUI:C0008354 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:1499 +name: Vibrio infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Infection due to non-cholerae vibrio" EXACT [SNOMEDCT_2005_07_31:398557001] +synonym: "vibriosis" EXACT [CSP2005:0368-4082] +is_obsolete: true + +[Term] +id: DOID:15 +name: reproductive system disease +alt_id: DOID:6309 +def: "A disease of anatomical entity that is located_in reproductive system organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system] +synonym: "genital system disease" EXACT [] +synonym: "Non-neoplastic Reproductive system disease" EXACT [] +xref: NCI:C27613 +xref: UMLS_CUI:C1335037 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:150 +name: disease of mental health +def: "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture." [url:http\://en.wikipedia.org/wiki/Mental_disorder] +xref: ICD10CM:F99 +xref: ICD10CM:F99-F99 +xref: MSH:D001523 +xref: NCI:C2893 +xref: SNOMEDCT_US_2015_03_01:154843007 +xref: SNOMEDCT_US_2015_03_01:154971002 +xref: SNOMEDCT_US_2015_03_01:154972009 +xref: SNOMEDCT_US_2015_03_01:154980002 +xref: SNOMEDCT_US_2015_03_01:192637001 +xref: SNOMEDCT_US_2015_03_01:192639003 +xref: SNOMEDCT_US_2015_03_01:74732009 +xref: UMLS_CUI:C0004936 +is_a: DOID:4 ! disease + +[Term] +id: DOID:1508 +name: candidiasis +alt_id: DOID:1507 +def: "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons." [url:http\://en.wikipedia.org/wiki/Candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] +synonym: "Disseminated candidiasis" EXACT [ICD9CM_2006:112.5] +synonym: "systemic candidiasis" EXACT [] +xref: ICD10CM:B37 +xref: ICD10CM:B37.9 +xref: ICD9CM:112 +xref: ICD9CM:112.9 +xref: MSH:D002177 +xref: NCI:C26711 +xref: SNOMEDCT_US_2015_03_01:154403005 +xref: SNOMEDCT_US_2015_03_01:187005005 +xref: SNOMEDCT_US_2015_03_01:187024008 +xref: SNOMEDCT_US_2015_03_01:187478002 +xref: SNOMEDCT_US_2015_03_01:78048006 +xref: UMLS_CUI:C0006840 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:1509 +name: avoidant personality disorder +def: "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction." [url:http\://en.wikipedia.org/wiki/Avoidant_personality_disorder] +synonym: "anxious personality disorder" EXACT [] +xref: ICD10CM:F60.6 +xref: ICD9CM:301.82 +xref: MSH:D010554 +xref: NCI:C92636 +xref: SNOMEDCT_US_2015_03_01:191771004 +xref: SNOMEDCT_US_2015_03_01:37746008 +xref: UMLS_CUI:C0004444 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:1510 +name: personality disorder +def: "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work." [url:http\://www.nlm.nih.gov/medlineplus/personalitydisorders.html] +synonym: "character disorder" EXACT [] +xref: ICD9CM:301.8 +xref: ICD9CM:301.89 +xref: SNOMEDCT_US_2015_03_01:191770003 +xref: SNOMEDCT_US_2015_03_01:191776009 +xref: SNOMEDCT_US_2015_03_01:268635005 +xref: SNOMEDCT_US_2015_03_01:268759009 +xref: UMLS_CUI:C0029707 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:1511 +name: residual schizophrenia chronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:1512 +name: chronic gonorrhea of cervix +synonym: "chronic gonococcal cervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:76802005] +synonym: "Gonococcal cervicitis, chronic" EXACT [ICD9CM_2006:098.35] +xref: ICD9CM:098.35 +xref: SNOMEDCT_US_2015_03_01:76802005 +xref: UMLS_CUI:C0153206 +is_a: DOID:1513 ! chronic cervicitis + +[Term] +id: DOID:1513 +name: chronic cervicitis +xref: NCI:C27057 +xref: SNOMEDCT_US_2015_03_01:198210003 +xref: SNOMEDCT_US_2015_03_01:56728002 +xref: UMLS_CUI:C0269062 +is_a: DOID:2568 ! cervicitis + +[Term] +id: DOID:1515 +name: mitral valve syphilitic endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic endocarditis of mitral valve (disorder)" EXACT [SNOMEDCT_2005_07_31:186875004] +is_obsolete: true + +[Term] +id: DOID:1516 +name: syphilitic endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:67391006] +is_obsolete: true + +[Term] +id: DOID:1517 +name: cecal benign neoplasm +def: "An intestinal benign neoplasm that is located_in the cecum." [url:http\://en.wikipedia.org/wiki/Cecum] +synonym: "cecum neoplasm" EXACT [NCI2004_11_17:C4433] +synonym: "neoplasm of caecum" EXACT [SNOMEDCT_2005_07_31:126839008] +xref: MSH:D002430 +xref: NCI:C4433 +xref: SNOMEDCT_US_2015_03_01:126839008 +xref: UMLS_CUI:C0007528 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:1518 +name: cecal disease +def: "An intestinal disease located_in the cecum." [url:https\://en.wikipedia.org/wiki/Cecum] +synonym: "disorder of cecum (disorder)" EXACT [SNOMEDCT_2005_07_31:128525008] +xref: MSH:D002429 +xref: SNOMEDCT_US_2015_03_01:128525008 +xref: UMLS_CUI:C0007527 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:1519 +name: cecum carcinoma +def: "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "Caecum carcinoma" EXACT [SNOMEDCT_2005_07_31:269538009] +synonym: "carcinoma of cecum" EXACT [SNOMEDCT_2005_07_31:187756005] +synonym: "Cecal cancer" EXACT [NCI2004_11_17:C3491] +xref: NCI:C3491 +xref: SNOMEDCT_US_2015_03_01:154459000 +xref: SNOMEDCT_US_2015_03_01:187756005 +xref: SNOMEDCT_US_2015_03_01:255081007 +xref: SNOMEDCT_US_2015_03_01:269538009 +xref: UMLS_CUI:C0149640 +is_a: DOID:1521 ! cecum cancer + +[Term] +id: DOID:1520 +name: colon carcinoma +def: "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "carcinoma OF colon" EXACT [MTH:191] +synonym: "carcinoma of colon" EXACT [SNOMEDCT_2005_07_31:154454005] +synonym: "carcinoma of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269533000] +synonym: "Colonic carcinoma" EXACT [NCI2004_11_17:C4910] +xref: NCI:C4910 +xref: OMIM:114500 +xref: SNOMEDCT_US_2015_03_01:154454005 +xref: SNOMEDCT_US_2015_03_01:269533000 +xref: UMLS_CUI:C0699790 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:1521 +name: cecum cancer +def: "A large intestine cancer that is located_in the cecum." [url:http\://en.wikipedia.org/wiki/Cecum] +synonym: "malignant neoplasm of caecum" EXACT [SNOMEDCT_2005_07_31:93736007] +synonym: "malignant tumor of the cecum" EXACT [NCI2004_11_17:C9329] +xref: ICD10CM:C18.0 +xref: ICD9CM:153.4 +xref: MSH:D002430 +xref: NCI:C9329 +xref: SNOMEDCT_US_2015_03_01:154459000 +xref: SNOMEDCT_US_2015_03_01:187756005 +xref: SNOMEDCT_US_2015_03_01:269538009 +xref: SNOMEDCT_US_2015_03_01:363350007 +xref: SNOMEDCT_US_2015_03_01:93736007 +xref: UMLS_CUI:C0153437 +is_a: DOID:5672 ! large intestine cancer + +[Term] +id: DOID:1522 +name: cecum lymphoma +synonym: "Cecal Lymphoma" EXACT [NCI2004_11_17:C5515] +xref: NCI:C5515 +xref: UMLS_CUI:C1332867 +is_a: DOID:1521 ! cecum cancer + +[Term] +id: DOID:1523 +name: colon lymphoma +synonym: "Colonic Lymphoma" EXACT [NCI2004_11_17:C4793] +xref: NCI:C4793 +xref: UMLS_CUI:C0519037 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:1525 +name: nodular nonsuppurative panniculitis +synonym: "nodular non-suppurative febrile panniculitis" EXACT [SNOMEDCT_2005_07_31:203121003] +synonym: "Relapsing febrile nodular nonsuppurative panniculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:33760009] +synonym: "Weber - Christian disease" EXACT [SNOMEDCT_2005_07_31:203120002] +synonym: "Weber-Christian disease" EXACT [MTHICD9_2006:729.30] +xref: ICD10CM:M35.6 +xref: MSH:D010201 +xref: SNOMEDCT_US_2015_03_01:203120002 +xref: SNOMEDCT_US_2015_03_01:203121003 +xref: SNOMEDCT_US_2015_03_01:33760009 +xref: UMLS_CUI:C0030328 +is_a: DOID:1526 ! panniculitis + +[Term] +id: DOID:1526 +name: panniculitis +xref: ICD10CM:M79.3 +xref: ICD9CM:729.3 +xref: ICD9CM:729.30 +xref: MSH:D015434 +xref: NCI:C112112 +xref: SNOMEDCT_US_2015_03_01:156779007 +xref: SNOMEDCT_US_2015_03_01:203119008 +xref: SNOMEDCT_US_2015_03_01:203120002 +xref: SNOMEDCT_US_2015_03_01:203122005 +xref: SNOMEDCT_US_2015_03_01:22125009 +xref: SNOMEDCT_US_2015_03_01:268012006 +xref: SNOMEDCT_US_2015_03_01:268122002 +xref: UMLS_CUI:C0030326 +is_a: DOID:37 ! skin disease +is_a: DOID:631 ! fibromyalgia + +[Term] +id: DOID:1528 +name: penile non-neoplastic disease +is_obsolete: true + +[Term] +id: DOID:1529 +name: penile disease +xref: ICD10CM:N48.8 +xref: ICD10CM:N48.89 +xref: ICD9CM:607.8 +xref: ICD9CM:607.89 +xref: SNOMEDCT_US_2015_03_01:198558008 +xref: UMLS_CUI:C0029785 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:153 +name: fibroepithelial neoplasm +def: "A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." [url:http\://en.wikipedia.org/wiki/Fibroepithelial_neoplasm] +synonym: "Fibroepithelial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115230008] +synonym: "Fibroepithelial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189817004] +synonym: "Fibroepithelial neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189828000] +synonym: "Fibroepithelial tumor" EXACT [NCI2004_11_17:C3743] +synonym: "Fibroepithelial tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134330009] +is_obsolete: true + +[Term] +id: DOID:1530 +name: male non-neoplastic reproductive system disease +is_obsolete: true + +[Term] +id: DOID:1532 +name: pleural disease +alt_id: DOID:1531 +def: "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism." [url:http\://chestjournal.chestpubs.org/content/104/1/262.full.pdf+html, url:http\://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000112220, url:http\://en.wikipedia.org/wiki/Pleural_disease] +synonym: "disorder of pleura" EXACT [SNOMEDCT_2005_07_31:88075009] +synonym: "non-neoplastic pleural disease" EXACT [] +synonym: "Pleural disorder" EXACT [NCI2004_11_17:C26859] +xref: MSH:D010995 +xref: NCI:C26859 +xref: SNOMEDCT_US_2015_03_01:88075009 +xref: UMLS_CUI:C0032226 +is_a: DOID:0050161 ! lower respiratory tract disease + +[Term] +id: DOID:154 +name: mixed cell type cancer +alt_id: DOID:1905 +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue." [url:http\://medical-dictionary.thefreedictionary.com/mixed+neoplasm] +synonym: "malignant mixed cancer" EXACT [] +synonym: "malignant mixed neoplasm" EXACT [NCI2004_11_17:C3729] +synonym: "malignant mixed tumor" RELATED [] +synonym: "mixed neoplasm" RELATED [] +synonym: "mixed tumor" EXACT [NCI2004_11_17:C6930] +synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:8145008] +synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189802003] +xref: MSH:D018198 +xref: NCI:C3729 +xref: NCI:C6930 +xref: SNOMEDCT_US_2015_03_01:189802003 +xref: SNOMEDCT_US_2015_03_01:8145008 +xref: UMLS_CUI:C0206625 +xref: UMLS_CUI:C1368354 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:1540 +name: parathyroid carcinoma +alt_id: DOID:11006 +alt_id: DOID:1541 +def: "An endocrine gland cancer located_in the parathyroid glands located in the neck." [url:http\://en.wikipedia.org/wiki/Parathyroid_gland] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "carcinoma of Parathyroid gland" EXACT [NCI2004_11_17:C4906] +synonym: "malignant neoplasm of parathyroid gland" EXACT [ICD9CM_2006:194.1, SNOMEDCT_2005_07_31:93943008] +synonym: "malignant neoplasm of the Parathyroid" EXACT [NCI2004_11_17:C9322] +synonym: "malignant tumor of parathyroid gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363481002] +synonym: "neoplasm of parathyroid gland" EXACT [SNOMEDCT_2005_07_31:127020005] +synonym: "parathyroid gland adenocarcinoma" RELATED [] +synonym: "parathyroid gland cancer" EXACT [] +synonym: "Parathyroid gland neoplasm" EXACT [NCI2004_11_17:C3313] +synonym: "parathyroid neoplasm" EXACT [CSP2005:2009-6398] +xref: ICD10CM:C75.0 +xref: ICD9CM:194.1 +xref: MSH:D010282 +xref: NCI:C3313 +xref: NCI:C4906 +xref: NCI:C9322 +xref: OMIM:608266 +xref: SNOMEDCT_US_2015_03_01:127020005 +xref: SNOMEDCT_US_2015_03_01:255037004 +xref: SNOMEDCT_US_2015_03_01:363481002 +xref: SNOMEDCT_US_2015_03_01:93943008 +xref: UMLS_CUI:C0030521 +xref: UMLS_CUI:C0153653 +xref: UMLS_CUI:C0687150 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:1542 +name: head and neck carcinoma +def: "A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx." [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck] +subset: DO_cancer_slim +synonym: "carcinoma of neck" RELATED [] +synonym: "carcinoma of the neck" EXACT [NCI2004_11_17:C6077] +xref: NCI:C6077 +xref: UMLS_CUI:C1334927 +is_a: DOID:11934 ! head and neck cancer + +[Term] +id: DOID:1543 +name: metastatic neoplasm of parathyroid +synonym: "metastatic tumor of Parathyroid" EXACT [NCI2004_11_17:C7827] +is_obsolete: true + +[Term] +id: DOID:155 +name: glandular and epithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:1550 +name: gestational diabetes complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:1549 +synonym: "Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder)" EXACT [SNOMEDCT_2005_07_31:199228009] +synonym: "Diabetes mellitus, postpartum" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1554 +name: vibratory urticaria +xref: ICD10CM:L50.4 +xref: ICD9CM:708.4 +xref: SNOMEDCT_US_2015_03_01:51247001 +xref: UMLS_CUI:C0157743 +is_a: DOID:0060220 ! physical urticaria + +[Term] +id: DOID:1555 +name: urticaria +def: "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis." [url:http\://en.wikipedia.org/wiki/Urticaria] +xref: ICD9CM:708.8 +xref: SNOMEDCT_US_2015_03_01:201267004 +xref: SNOMEDCT_US_2015_03_01:201271001 +xref: SNOMEDCT_US_2015_03_01:267817001 +xref: UMLS_CUI:C0029839 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:1556 +name: arthus reaction +synonym: "Arthus Phenomenon" EXACT [NCI2004_11_17:C34400] +synonym: "Arthus phenomenon" EXACT [CSP2005:1524-9024] +synonym: "Arthus reaction (function)" EXACT [SNOMEDCT_2005_07_31:29548007] +synonym: "Arthus type urticaria" EXACT [SNOMEDCT_2005_07_31:402413008] +xref: ICD10CM:T78.41 +xref: ICD9CM:995.21 +xref: MSH:D001183 +xref: NCI:C34400 +xref: SNOMEDCT_US_2015_03_01:29548007 +xref: SNOMEDCT_US_2015_03_01:402413008 +xref: UMLS_CUI:C0003907 +is_a: DOID:1557 ! hypersensitivity reaction type III disease + +[Term] +id: DOID:1557 +name: hypersensitivity reaction type III disease +synonym: "immune complex disease" EXACT [CSP2005:1560-5864] +xref: MSH:D007105 +xref: NCI:C114346 +xref: UMLS_CUI:C0020951 +is_a: DOID:0060056 ! hypersensitivity reaction disease + +[Term] +id: DOID:1558 +name: angioedema +def: "A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues." [url:http\://en.wikipedia.org/wiki/Angioedema] +synonym: "angioneurotic edema" EXACT [] +synonym: "Angioneurotic oedema" EXACT [SNOMEDCT_2005_07_31:269433002] +synonym: "giant urticaria" EXACT [CSP2005:1849-1576] +synonym: "Quincke's edema" EXACT [SNOMEDCT_2005_07_31:82966003] +xref: CSP:2716-7007 +xref: ICD10CM:T78.3 +xref: MSH:D000799 +xref: NCI:C112175 +xref: SNOMEDCT_US_2015_03_01:157756002 +xref: SNOMEDCT_US_2015_03_01:269433002 +xref: SNOMEDCT_US_2015_03_01:400075008 +xref: SNOMEDCT_US_2015_03_01:41291007 +xref: SNOMEDCT_US_2015_03_01:82966003 +xref: UMLS_CUI:C0002994 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:1561 +name: cognitive disorder +def: "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving." [url:http\://en.wikipedia.org/wiki/Cognitive_disorder] +synonym: "cognitive disease" EXACT [] +synonym: "Organic Mental disorder" RELATED [NCI2004_11_17:C34870] +xref: ICD10CM:F09 +xref: MSH:D019965 +xref: NCI:C34870 +xref: SNOMEDCT_US_2015_03_01:106014008 +xref: SNOMEDCT_US_2015_03_01:111479008 +xref: UMLS_CUI:C0029227 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:1562 +name: chromoblastomycosis +def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005] +synonym: "Chromomycosis" EXACT [MTHICD9_2006:117.2] +synonym: "Mossy foot disease (disorder)" EXACT [SNOMEDCT_2005_07_31:252402000] +xref: ICD10CM:B43.9 +xref: ICD9CM:117.2 +xref: MSH:D002862 +xref: SNOMEDCT_US_2015_03_01:187079000 +xref: SNOMEDCT_US_2015_03_01:187082005 +xref: SNOMEDCT_US_2015_03_01:187490000 +xref: SNOMEDCT_US_2015_03_01:238441002 +xref: SNOMEDCT_US_2015_03_01:7255004 +xref: UMLS_CUI:C0008582 +is_a: DOID:0050135 ! subcutaneous mycosis + +[Term] +id: DOID:1563 +name: dermatomycosis +def: "A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes." [url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004] +xref: ICD9CM:111 +xref: ICD9CM:111.9 +xref: MSH:D003881 +xref: SNOMEDCT_US_2015_03_01:14560005 +xref: SNOMEDCT_US_2015_03_01:186984003 +xref: SNOMEDCT_US_2015_03_01:187004009 +xref: SNOMEDCT_US_2015_03_01:47382004 +xref: UMLS_CUI:C0011630 +is_a: DOID:0050134 ! cutaneous mycosis + +[Term] +id: DOID:1564 +name: fungal infectious disease +def: "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body." [url:http\://en.wikipedia.org/wiki/Mycoses] +synonym: "mycoses" RELATED [] +synonym: "mycosis" EXACT [] +xref: ICD10CM:B35-B49 +xref: ICD10CM:B49 +xref: ICD9CM:110-118.99 +xref: MSH:D009181 +xref: NCI:C3245 +xref: SNOMEDCT_US_2015_03_01:154393000 +xref: SNOMEDCT_US_2015_03_01:154394006 +xref: SNOMEDCT_US_2015_03_01:187110007 +xref: SNOMEDCT_US_2015_03_01:187472001 +xref: SNOMEDCT_US_2015_03_01:187498007 +xref: SNOMEDCT_US_2015_03_01:266214005 +xref: SNOMEDCT_US_2015_03_01:3218000 +xref: UMLS_CUI:C0026946 +is_a: DOID:0050117 ! disease by infectious agent + +[Term] +id: DOID:1568 +name: calculus of gallbladder and bile duct with acute and chronic cholecystitis +alt_id: DOID:1567 +synonym: "calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1569 +name: mechanical ectropion +synonym: "Mechanical ectropion (disorder)" EXACT [SNOMEDCT_2005_07_31:45020000] +xref: ICD9CM:374.12 +xref: SNOMEDCT_US_2015_03_01:45020000 +xref: UMLS_CUI:C0155194 +is_a: DOID:1570 ! ectropion + +[Term] +id: DOID:157 +name: epithelial carcinoma +alt_id: DOID:3806 +def: "A carcinoma that derives_from the cells that line an organ." [url:http\://www.cancer.gov/dictionary/?CdrID=46422] +synonym: "epithelial neoplasm" RELATED [] +synonym: "epithelial skin tumor" EXACT [] +synonym: "epithelial tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134207000] +synonym: "skin Epithelium tumor" EXACT [NCI2004_11_17:C7342] +synonym: "tumor of surface epithelium (disorder)" EXACT [SNOMEDCT_2005_07_31:254649008] +is_obsolete: true + +[Term] +id: DOID:1570 +name: ectropion +synonym: "Ectropion of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:62909004] +synonym: "Everted margin (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:127559009] +xref: ICD10CM:H02.1 +xref: ICD10CM:H02.10 +xref: ICD10CM:H02.109 +xref: ICD9CM:374.1 +xref: ICD9CM:374.10 +xref: MSH:D004483 +xref: SNOMEDCT_US_2015_03_01:127559009 +xref: SNOMEDCT_US_2015_03_01:155178000 +xref: SNOMEDCT_US_2015_03_01:193934003 +xref: SNOMEDCT_US_2015_03_01:193935002 +xref: SNOMEDCT_US_2015_03_01:62909004 +xref: UMLS_CUI:C0013592 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:1571 +name: spastic ectropion +synonym: "Spastic ectropion (disorder)" EXACT [SNOMEDCT_2005_07_31:80846000] +xref: ICD9CM:374.13 +xref: SNOMEDCT_US_2015_03_01:80846000 +xref: UMLS_CUI:C0155195 +is_a: DOID:1570 ! ectropion + +[Term] +id: DOID:1572 +name: normal pressure hydrocephalus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Low pressure hydrocephalus" EXACT [SNOMEDCT_2005_07_31:69663004] +synonym: "Normal pressure hydrocephalus (disorder)" EXACT [SNOMEDCT_2005_07_31:30753002] +xref: ICD10CM:G91.2 +xref: MSH:D006850 +xref: OMIM:236690 +xref: SNOMEDCT_US_2015_03_01:30753002 +xref: SNOMEDCT_US_2015_03_01:69663004 +xref: UMLS_CUI:C0020258 +is_a: DOID:1573 ! communicating hydrocephalus + +[Term] +id: DOID:1573 +name: communicating hydrocephalus +synonym: "Communicating hydrocephalus" EXACT [ICD9CM_2006:331.3] +synonym: "Communicating hydrocephalus (disorder)" EXACT [SNOMEDCT_2005_07_31:271569006] +synonym: "Communicating hydrocephalus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:59013007] +xref: ICD10CM:G91.0 +xref: ICD9CM:331.3 +xref: MSH:D006849 +xref: NCI:C34501 +xref: SNOMEDCT_US_2015_03_01:271569006 +xref: SNOMEDCT_US_2015_03_01:59013007 +xref: UMLS_CUI:C0009451 +is_a: DOID:10908 ! hydrocephalus + +[Term] +id: DOID:1574 +name: alcohol abuse +def: "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." [url:http\://en.wikipedia.org/wiki/Alcohol_abuse] +synonym: "Ethanol abuse" EXACT [SNOMEDCT_2005_07_31:304606004] +xref: ICD10CM:F10.1 +xref: ICD9CM:305.0 +xref: ICD9CM:305.00 +xref: MSH:D000437 +xref: NCI:C20701 +xref: SNOMEDCT_US_2015_03_01:15167005 +xref: SNOMEDCT_US_2015_03_01:304606004 +xref: UMLS_CUI:C0085762 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:1575 +name: rheumatic disease +def: "A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:1577 +name: limited scleroderma +synonym: "Limited cutaneous systemic sclerosis" EXACT [SNOMEDCT_2005_07_31:298285004] +synonym: "systemic sclerosis, limited" EXACT [SNOMEDCT_2005_07_31:299276009] +synonym: "systemic sclerosis, limited" EXACT [SNOMEDCT_2005_07_31:128459005] +xref: MSH:D045745 +xref: SNOMEDCT_US_2015_03_01:128459005 +xref: SNOMEDCT_US_2015_03_01:298285004 +xref: SNOMEDCT_US_2015_03_01:299276009 +xref: UMLS_CUI:C0748540 +is_a: DOID:418 ! systemic scleroderma + +[Term] +id: DOID:1578 +name: pulmonary systemic sclerosis +synonym: "lung disease with systemic sclerosis" EXACT [] +synonym: "lung disease with systemic sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:196133001] +synonym: "lung involvement in systemic sclerosis" EXACT [ICD9CM_2006:517.2] +xref: ICD10CM:M34.81 +xref: ICD9CM:517.2 +xref: SNOMEDCT_US_2015_03_01:196133001 +xref: UMLS_CUI:C0339904 +is_a: DOID:418 ! systemic scleroderma + +[Term] +id: DOID:1579 +name: respiratory system disease +alt_id: DOID:3226 +def: "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm." [url:http\://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system] +xref: ICD10CM:J96-J99 +xref: ICD10CM:J98 +xref: ICD9CM:510-519.99 +xref: ICD9CM:519 +xref: SNOMEDCT_US_2015_03_01:155603009 +xref: SNOMEDCT_US_2015_03_01:196057004 +xref: SNOMEDCT_US_2015_03_01:196184000 +xref: SNOMEDCT_US_2015_03_01:196255004 +xref: SNOMEDCT_US_2015_03_01:266373008 +xref: UMLS_CUI:C0029582 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:1580 +name: diffuse scleroderma +synonym: "diffuse systemic sclerosis" EXACT [CSP2005:4008-0097] +synonym: "systemic sclerosis, diffuse (disorder)" EXACT [SNOMEDCT_2005_07_31:128460000] +xref: MSH:D045743 +xref: SNOMEDCT_US_2015_03_01:128460000 +xref: SNOMEDCT_US_2015_03_01:444133002 +xref: UMLS_CUI:C1258104 +is_a: DOID:418 ! systemic scleroderma + +[Term] +id: DOID:1583 +name: laryngeal tuberculosis +def: "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." [url:http\://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf, url:http\://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607, url:http\://www.springerlink.com/content/58281g77v7054641/fulltext.pdf] +xref: ICD10CM:A15.5 +xref: ICD9CM:012.3 +xref: MSH:D014387 +xref: NCI:C26895 +xref: SNOMEDCT_US_2015_03_01:70341005 +xref: UMLS_CUI:C0041315 +is_a: DOID:3437 ! laryngitis + +[Term] +id: DOID:1584 +name: acute chest syndrome +def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." [url:http\://en.wikipedia.org/wiki/Acute_chest_syndrome, url:http\://www.rcjournal.com/contents/03.04/03.04.0263.pdf] +synonym: "acute chest syndrome in sickle cell disease" EXACT [SNOMEDCT_2005_07_31:372146004] +xref: ICD9CM:517.3 +xref: MSH:D056586 +xref: SNOMEDCT_US_2015_03_01:372146004 +xref: UMLS_CUI:C0742343 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:1585 +name: rheumatic pneumonia +subset: gram-positive_bacterial_infectious_disease +synonym: "Rheumatic pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:7548000] +is_obsolete: true + +[Term] +id: DOID:1586 +name: rheumatic fever +alt_id: DOID:1006 +alt_id: DOID:1007 +subset: gram-positive_bacterial_infectious_disease +synonym: "ACUTE RHEUMATIC FEVER" EXACT [ICD9CM_2006:390-392.99] +synonym: "RhF - Rheumatic fever" EXACT [SNOMEDCT_2005_07_31:274095001] +xref: ICD10CM:I00 +xref: ICD10CM:I00-I02 +xref: ICD9CM:390 +xref: ICD9CM:390-392.99 +xref: MSH:D012213 +xref: NCI:C34984 +xref: SNOMEDCT_US_2015_03_01:155264006 +xref: SNOMEDCT_US_2015_03_01:155265007 +xref: SNOMEDCT_US_2015_03_01:155274009 +xref: SNOMEDCT_US_2015_03_01:194718003 +xref: SNOMEDCT_US_2015_03_01:195528001 +xref: SNOMEDCT_US_2015_03_01:24363009 +xref: SNOMEDCT_US_2015_03_01:26424001 +xref: SNOMEDCT_US_2015_03_01:266276003 +xref: SNOMEDCT_US_2015_03_01:274095001 +xref: SNOMEDCT_US_2015_03_01:58718002 +xref: SNOMEDCT_US_2015_03_01:81077008 +xref: UMLS_CUI:C0035436 +xref: UMLS_CUI:C0264743 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:1587 +name: thrombocytopenia due to platelet alloimmunization +synonym: "Auto-immune thrombocytopenia" EXACT [SNOMEDCT_2005_07_31:142969008] +synonym: "Auto-immune thrombocytopenia" EXACT [SNOMEDCT_2005_07_31:165556002] +synonym: "Immune thrombocytopenia (disorder)" EXACT [SNOMEDCT_2005_07_31:2897005] +synonym: "Thrombocytopenia Due to Immune Destruction" EXACT [NCI2004_11_17:C3991] +xref: NCI:C3991 +xref: SNOMEDCT_US_2015_03_01:2897005 +xref: UMLS_CUI:C0272286 +is_a: DOID:1588 ! thrombocytopenia + +[Term] +id: DOID:1588 +name: thrombocytopenia +def: "A blood platelet disease characterized by low a platelet count in the blood." [url:http\://en.wikipedia.org/wiki/Thrombocytopenia, url:http\://ghr.nlm.nih.gov/glossary=thrombocytopenia, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:D69.6 +xref: ICD9CM:287.5 +xref: MSH:D013921 +xref: NCI:C3408 +xref: OMIM:188000 +xref: OMIM:273900 +xref: OMIM:300367 +xref: OMIM:313900 +xref: OMIM:612004 +xref: ORDO:852 +xref: SNOMEDCT_US_2015_03_01:142969008 +xref: SNOMEDCT_US_2015_03_01:154827000 +xref: SNOMEDCT_US_2015_03_01:165556002 +xref: SNOMEDCT_US_2015_03_01:191326009 +xref: SNOMEDCT_US_2015_03_01:302215000 +xref: SNOMEDCT_US_2015_03_01:415116008 +xref: SNOMEDCT_US_2015_03_01:70786006 +xref: UMLS_CUI:C0040034 +is_a: DOID:2218 ! blood platelet disease + +[Term] +id: DOID:159 +name: mesothelial neoplasm +synonym: "Mesothelial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115232000] +synonym: "Mesothelial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189832006] +synonym: "Mesothelial neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189838005] +synonym: "Mesothelial tumor" EXACT [NCI2004_11_17:C3786] +synonym: "Mesothelial tumor morphology (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134332001] +is_obsolete: true + +[Term] +id: DOID:1591 +name: renovascular hypertension +synonym: "Renovascular hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:123799005] +xref: ICD10CM:I15.0 +xref: MSH:D006978 +xref: NCI:C85044 +xref: SNOMEDCT_US_2015_03_01:123799005 +xref: SNOMEDCT_US_2015_03_01:194790006 +xref: UMLS_CUI:C0020545 +is_a: DOID:1073 ! renal hypertension + +[Term] +id: DOID:1592 +name: secondary malignant neoplasm of retroperitoneum and peritoneum +synonym: "secondary malignant neoplasm of retroperitoneum and peritoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:188445006] +synonym: "secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188447003] +is_obsolete: true + +[Term] +id: DOID:1593 +name: metastasis to the peritoneum +synonym: "metastatic neoplasm to the Peritoneum" EXACT [NCI2004_11_17:C4583] +synonym: "secondary malignant neoplasm of the peritoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:94627008] +is_obsolete: true + +[Term] +id: DOID:1595 +name: endogenous depression +alt_id: DOID:6340 +def: "A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system." [url:http\://en.wikipedia.org/wiki/Endogenous_depression] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "clinical depression" EXACT [CSP2005:2483-6681] +synonym: "unipolar depression" EXACT [] +xref: EFO:0003761 +xref: MSH:D003866 +xref: NCI:C34532 +xref: NCI:C35094 +xref: OMIM:608516 +xref: SNOMEDCT_US_2015_03_01:154873003 +xref: SNOMEDCT_US_2015_03_01:191599006 +xref: SNOMEDCT_US_2015_03_01:231498003 +xref: SNOMEDCT_US_2015_03_01:300706003 +xref: UMLS_CUI:C0011573 +xref: UMLS_CUI:C0041696 +is_a: DOID:1596 ! mental depression + +[Term] +id: DOID:1596 +name: mental depression +alt_id: DOID:14672 +xref: ICD10CM:F32.9 +xref: ICD10CM:F33.9 +xref: MSH:D003863 +xref: NCI:C2982 +xref: SNOMEDCT_US_2015_03_01:154963001 +xref: SNOMEDCT_US_2015_03_01:307537002 +xref: UMLS_CUI:C0011570 +is_a: DOID:3324 ! mood disorder + +[Term] +id: DOID:1597 +name: single episode mild major depression +synonym: "Major depressive disorder, single episode, mild degree" EXACT [ICD9CM_2006:296.21] +synonym: "Mild major depression, single episode (disorder)" EXACT [SNOMEDCT_2005_07_31:79298009] +synonym: "Single major depressive episode, mild (disorder)" EXACT [SNOMEDCT_2005_07_31:191601008] +is_obsolete: true + +[Term] +id: DOID:1599 +name: single episode moderate major depression +synonym: "Major depressive disorder, single episode, moderate degree" EXACT [ICD9CM_2006:296.22] +synonym: "Moderate major depression, single episode (disorder)" EXACT [SNOMEDCT_2005_07_31:15639000] +synonym: "Single major depressive episode, moderate (disorder)" EXACT [SNOMEDCT_2005_07_31:191602001] +is_obsolete: true + +[Term] +id: DOID:16 +name: integumentary system disease +def: "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages." [url:http\://en.wikipedia.org/wiki/Integumentary_system] +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:1602 +name: lymphadenitis +alt_id: DOID:1600 +alt_id: DOID:9941 +synonym: "acute adenitis" EXACT [] +synonym: "acute Lymphadenitis" EXACT [NCI2004_11_17:C26978] +synonym: "acute lymphadenitis" EXACT [ICD9CM_2006:683, SNOMEDCT_2005_07_31:156318008] +synonym: "acute lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:41174002] +synonym: "Adenitis" EXACT [NCI2004_11_17:C26821] +synonym: "chronic adenitis" EXACT [] +synonym: "chronic Lymphadenitis" EXACT [NCI2004_11_17:C26966] +synonym: "chronic lymphadenitis" EXACT [ICD9CM_2006:289.1, SNOMEDCT_2005_07_31:154836001] +synonym: "chronic lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:32035007] +synonym: "chronic lymphadenitis any lymph node, except mesenteric" EXACT [MTHICD9_2006:289.1] +synonym: "Inflammation of lymph node" EXACT [SNOMEDCT_2005_07_31:274737001] +synonym: "Lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:19471005] +synonym: "Lymphadenitis NOS" EXACT [SNOMEDCT_2005_07_31:154838000] +synonym: "Lymphadenitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:287688007] +xref: ICD10CM:I88.1 +xref: ICD10CM:I88.9 +xref: ICD10CM:L04 +xref: ICD10CM:L04.9 +xref: ICD9CM:289.1 +xref: ICD9CM:683 +xref: MSH:D008199 +xref: NCI:C26821 +xref: NCI:C26966 +xref: NCI:C26978 +xref: SNOMEDCT_US_2015_03_01:154836001 +xref: SNOMEDCT_US_2015_03_01:154838000 +xref: SNOMEDCT_US_2015_03_01:156318008 +xref: SNOMEDCT_US_2015_03_01:19471005 +xref: SNOMEDCT_US_2015_03_01:200696002 +xref: SNOMEDCT_US_2015_03_01:274737001 +xref: SNOMEDCT_US_2015_03_01:287688007 +xref: SNOMEDCT_US_2015_03_01:32035007 +xref: SNOMEDCT_US_2015_03_01:41174002 +xref: UMLS_CUI:C0024205 +xref: UMLS_CUI:C0154304 +xref: UMLS_CUI:C0157705 +is_a: DOID:9942 ! lymph node disease + +[Term] +id: DOID:1607 +name: hypoglycemic coma +synonym: "Hypoglycaemic coma" EXACT [SNOMEDCT_2005_07_31:267476006] +synonym: "Hypoglycaemic coma" EXACT [SNOMEDCT_2005_07_31:154692004] +synonym: "Hypoglycaemic coma" EXACT [SNOMEDCT_2005_07_31:190428000] +synonym: "Hypoglycemic coma" EXACT [ICD9CM_2006:251.0] +synonym: "Hypoglycemic coma (disorder)" EXACT [SNOMEDCT_2005_07_31:267384006] +synonym: "Hypoglycemic coma (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:71898001] +synonym: "Hypoglycemic coma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190430003] +xref: ICD10CM:E15 +xref: ICD9CM:251.0 +xref: SNOMEDCT_US_2015_03_01:154692004 +xref: SNOMEDCT_US_2015_03_01:190428000 +xref: SNOMEDCT_US_2015_03_01:190430003 +xref: SNOMEDCT_US_2015_03_01:267384006 +xref: SNOMEDCT_US_2015_03_01:267476006 +xref: SNOMEDCT_US_2015_03_01:71898001 +xref: UMLS_CUI:C0020617 +is_a: DOID:1428 ! endocrine pancreas disease +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:161 +name: keratosis +def: "A skin disease characterized_by growth of keratin on the skin or mucous membranes." [url:https\://en.wikipedia.org/wiki/Keratosis] +xref: MSH:D007642 +xref: NCI:C34747 +xref: SNOMEDCT_US_2015_03_01:254666005 +xref: UMLS_CUI:C0022593 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:1612 +name: breast cancer +alt_id: DOID:1648 +alt_id: DOID:4241 +def: "A thoracic cancer that originates in the mammary gland." [url:http\://en.wikipedia.org/wiki/Breast_cancer, url:http\://en.wikipedia.org/wiki/Mammary, url:http\://www.cancer.gov/cancertopics/types/breast, url:http\://www.nlm.nih.gov/medlineplus/breastcancer.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "breast tumor" EXACT [NCI2004_11_17:C2910] +synonym: "malignant neoplasm of breast" EXACT [] +synonym: "malignant tumor of the breast" EXACT [NCI2004_11_17:C9335] +synonym: "mammary cancer" EXACT [] +synonym: "mammary neoplasm" RELATED [] +synonym: "mammary tumor" EXACT [CSP2005:2016-0671] +synonym: "primary breast cancer" EXACT [] +xref: ICD10CM:C50 +xref: ICD9CM:174.8 +xref: MSH:D001943 +xref: NCI:C2910 +xref: NCI:C9335 +xref: OMIM:114480 +xref: OMIM:600048 +xref: OMIM:605365 +xref: ORDO:227535 +xref: SNOMEDCT_US_2015_03_01:126926005 +xref: SNOMEDCT_US_2015_03_01:154521006 +xref: SNOMEDCT_US_2015_03_01:190121004 +xref: SNOMEDCT_US_2015_03_01:254837009 +xref: SNOMEDCT_US_2015_03_01:269595005 +xref: UMLS_CUI:C0006142 +xref: UMLS_CUI:C0153555 +xref: UMLS_CUI:C1458155 +is_a: DOID:5093 ! thoracic cancer + +[Term] +id: DOID:1614 +name: male breast cancer +alt_id: DOID:9796 +synonym: "malignant neoplasm of male breast" EXACT [] +synonym: "neoplasm of male breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126937006] +xref: ICD9CM:175.9 +xref: MSH:D018567 +xref: SNOMEDCT_US_2015_03_01:126937006 +xref: UMLS_CUI:C0153559 +xref: UMLS_CUI:C0242788 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:1616 +name: benign eccrine breast spiradenoma +synonym: "benign Eccrine breast Spiradenoma" EXACT [NCI2004_11_17:C5193] +xref: NCI:C5193 +xref: UMLS_CUI:C1332492 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1618 +name: breast fibroadenoma +alt_id: DOID:2684 +alt_id: DOID:2693 +alt_id: DOID:7226 +def: "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast." [url:http\://en.wikipedia.org/wiki/Fibroadenoma, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007216.htm] +synonym: "cellular Fibroadenoma" EXACT [NCI2004_11_17:C4276] +synonym: "Complex Fibroadenoma of breast" EXACT [NCI2004_11_17:C5194] +synonym: "Fibroadenoma" EXACT [NCI2004_11_17:C3744] +synonym: "fibroadenoma" EXACT [] +synonym: "Fibroadenoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254845004] +synonym: "Juvenile fibroadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:46212000] +synonym: "juvenile fibroadenoma of breast" EXACT [] +xref: ICD10CM:D24 +xref: MSH:D018226 +xref: NCI:C3744 +xref: NCI:C4276 +xref: NCI:C5194 +xref: SNOMEDCT_US_2015_03_01:189102001 +xref: SNOMEDCT_US_2015_03_01:189820007 +xref: SNOMEDCT_US_2015_03_01:254845004 +xref: SNOMEDCT_US_2015_03_01:254847007 +xref: SNOMEDCT_US_2015_03_01:269640007 +xref: SNOMEDCT_US_2015_03_01:46212000 +xref: SNOMEDCT_US_2015_03_01:65877006 +xref: UMLS_CUI:C0178421 +xref: UMLS_CUI:C0206650 +xref: UMLS_CUI:C0346158 +xref: UMLS_CUI:C1333137 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:162 +name: cancer +def: "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." [stedman:rlc, url:http\://en.wikipedia.org/wiki/cancer, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer] +comment: Updating out dated UMLS CUI. +synonym: "malignant neoplasm" EXACT [] +synonym: "malignant tumor " EXACT [] +synonym: "primary cancer" EXACT [] +xref: ICD10CM:C80 +xref: ICD10CM:C80.1 +xref: ICD9CM:199 +xref: MSH:D009369 +xref: NCI:C9305 +xref: SNOMEDCT_US_2015_03_01:154432008 +xref: SNOMEDCT_US_2015_03_01:154433003 +xref: SNOMEDCT_US_2015_03_01:154577008 +xref: SNOMEDCT_US_2015_03_01:187597000 +xref: SNOMEDCT_US_2015_03_01:188475001 +xref: SNOMEDCT_US_2015_03_01:188482002 +xref: SNOMEDCT_US_2015_03_01:190150006 +xref: SNOMEDCT_US_2015_03_01:269513004 +xref: SNOMEDCT_US_2015_03_01:269623003 +xref: SNOMEDCT_US_2015_03_01:269626006 +xref: SNOMEDCT_US_2015_03_01:269634000 +xref: SNOMEDCT_US_2015_03_01:363346000 +xref: SNOMEDCT_US_2015_03_01:38807002 +xref: UMLS_CUI:C0006826 +is_a: DOID:14566 ! disease of cellular proliferation + +[Term] +id: DOID:1620 +name: breast fibroepithelial tumor +is_obsolete: true + +[Term] +id: DOID:1623 +name: breast leiomyoma +xref: NCI:C40399 +xref: UMLS_CUI:C1511317 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1624 +name: breast soft tissue tumor +is_obsolete: true + +[Term] +id: DOID:1625 +name: breast adenoma +synonym: "Ademoma - breast" EXACT [SNOMEDCT_2005_07_31:269640007] +xref: NCI:C40382 +xref: SNOMEDCT_US_2015_03_01:269640007 +xref: UMLS_CUI:C1328385 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1626 +name: breast duct papilloma +synonym: "duct papilloma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254848002] +synonym: "papilloma of the breast" EXACT [NCI2004_11_17:C3863] +xref: NCI:C3863 +xref: SNOMEDCT_US_2015_03_01:254848002 +xref: UMLS_CUI:C0238034 +is_a: DOID:1628 ! intraductal papillary breast neoplasm + +[Term] +id: DOID:1627 +name: intraductal papilloma +synonym: "ductal papilloma" EXACT [NCI2004_11_17:C3785] +synonym: "Intraductal papilloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5244003] +xref: MSH:D018300 +xref: NCI:C3785 +xref: SNOMEDCT_US_2015_03_01:5244003 +xref: UMLS_CUI:C0206713 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:1628 +name: intraductal papillary breast neoplasm +xref: NCI:C36090 +xref: UMLS_CUI:C1334252 +is_a: DOID:3013 ! intraductal breast neoplasm + +[Term] +id: DOID:1629 +name: breast myofibroblastoma +xref: NCI:C40397 +xref: UMLS_CUI:C1511320 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:163 +name: mucoepidermoid tumor +synonym: "Mucoepidermoid neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189676001] +synonym: "Mucoepidermoid neoplasm (morphology)" EXACT [SNOMEDCT_2005_07_31:127571003] +synonym: "Mucoepidermoid neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189677005] +synonym: "Mucoepidermoid tumor [obs]" EXACT [SNOMEDCT_2005_07_31:39892006] +is_obsolete: true + +[Term] +id: DOID:1631 +name: benign breast phyllodes tumor +alt_id: DOID:1633 +alt_id: DOID:2608 +synonym: "benign cystosarcoma phyllodes" EXACT [] +synonym: "benign Phyllodes neoplasm" EXACT [NCI2004_11_17:C4274] +synonym: "benign Phyllodes neoplasm of the breast" EXACT [NCI2004_11_17:C5196] +synonym: "Cystosarcoma phyllodes" EXACT [SNOMEDCT_2005_07_31:154641007, SNOMEDCT_2005_07_31:189505009, SNOMEDCT_2005_07_31:269651007] +synonym: "Cystosarcoma phyllodes NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189825002] +synonym: "Cystosarcoma phyllodes, NOS" EXACT [SNOMEDCT_2005_07_31:71232009] +synonym: "Phyllodes neoplasm" EXACT [NCI2004_11_17:C2977] +synonym: "Phyllodes tumor, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:16566002] +xref: ICD10CM:D48.6 +xref: MSH:D003557 +xref: NCI:C2977 +xref: NCI:C4274 +xref: NCI:C5196 +xref: SNOMEDCT_US_2015_03_01:154641007 +xref: SNOMEDCT_US_2015_03_01:16566002 +xref: SNOMEDCT_US_2015_03_01:189505009 +xref: SNOMEDCT_US_2015_03_01:189825002 +xref: SNOMEDCT_US_2015_03_01:269651007 +xref: SNOMEDCT_US_2015_03_01:71232009 +xref: UMLS_CUI:C0010701 +xref: UMLS_CUI:C0334501 +xref: UMLS_CUI:C1332533 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1634 +name: breast papillomatosis +synonym: "papillomatosis of the breast" EXACT [NCI2004_11_17:C6977] +xref: NCI:C6977 +xref: UMLS_CUI:C1332636 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1637 +name: breast angiomatosis +xref: NCI:C40381 +xref: UMLS_CUI:C1511284 +is_a: DOID:1271 ! capillary disease + +[Term] +id: DOID:1638 +name: central nervous system tuberculosis +alt_id: DOID:0050121 +alt_id: DOID:0050122 +alt_id: DOID:10094 +alt_id: DOID:1640 +def: "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "intracranial tuberculoma" EXACT [] +synonym: "tuberculoma of brain" EXACT [] +synonym: "tuberculosis of meninges and central nervous system" EXACT [] +synonym: "Tuberculosis of meninges and central nervous system (disorder)" EXACT [SNOMEDCT_2005_07_31:186213005] +synonym: "tuberculous abscess of brain" EXACT [] +xref: ICD9CM:013.2 +xref: ICD9CM:013.20 +xref: MSH:D016862 +xref: SNOMEDCT_US_2015_03_01:40769007 +xref: SNOMEDCT_US_2015_03_01:416265003 +xref: UMLS_CUI:C0085388 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:1639 +name: skeletal tuberculosis +def: "An extrapulmonary tuberculosis that results in formation of lesions located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_Tuberculosis] +subset: gram-positive_bacterial_infectious_disease +synonym: "osteoarticular tuberculosis" EXACT [] +xref: ICD10CM:A18.0 +xref: ICD9CM:015 +xref: ICD9CM:015.9 +xref: MSH:D014394 +xref: SNOMEDCT_US_2015_03_01:154287006 +xref: SNOMEDCT_US_2015_03_01:17653001 +xref: SNOMEDCT_US_2015_03_01:186229002 +xref: SNOMEDCT_US_2015_03_01:186234003 +xref: SNOMEDCT_US_2015_03_01:266084009 +xref: UMLS_CUI:C0041324 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:164 +name: cystic, mucinous, and serous neoplasm +synonym: "cystic, mucinous and serous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189678000] +synonym: "cystic, mucinous and serous tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134320000] +is_obsolete: true + +[Term] +id: DOID:1641 +name: benign breast adenomyoepithelioma +synonym: "benign Adenomyoepithelioma of the breast" EXACT [NCI2004_11_17:C5144] +xref: NCI:C5144 +xref: UMLS_CUI:C1332477 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:1642 +name: breast adenomyoepithelioma +alt_id: DOID:6640 +def: "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells." [url:http\://www.ajronline.org/cgi/content/full/180/3/799] +synonym: "adenomyoepithelioma of the breast" RELATED [] +synonym: "breast Adenomyoepithelioma with malignant Change" EXACT [NCI2004_11_17:C5143] +synonym: "malignant adenomyoepithelioma of breast" EXACT [] +xref: NCI:C5143 +xref: NCI:C6899 +xref: UMLS_CUI:C1334564 +xref: UMLS_CUI:C1510795 +is_a: DOID:3004 ! breast myoepithelial neoplasm + +[Term] +id: DOID:1647 +name: female breast upper-inner quadrant cancer +synonym: "malignant neoplasm of upper-inner quadrant of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188152004] +xref: ICD9CM:174.2 +xref: SNOMEDCT_US_2015_03_01:188152004 +xref: UMLS_CUI:C0153550 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:1649 +name: female breast lower-inner quadrant cancer +synonym: "malignant neoplasm of lower-inner quadrant of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188153009] +xref: ICD10CM:C50.31 +xref: ICD9CM:174.3 +xref: SNOMEDCT_US_2015_03_01:188153009 +xref: UMLS_CUI:C0153551 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:1650 +name: female breast axillary tail cancer +synonym: "malignant neoplasm of axillary tail of female breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188156001] +xref: ICD10CM:C50.61 +xref: ICD9CM:174.6 +xref: SNOMEDCT_US_2015_03_01:188156001 +xref: SNOMEDCT_US_2015_03_01:93685009 +xref: UMLS_CUI:C0153554 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:1657 +name: ventricular septal defect +def: "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." [url:http\://en.wikipedia.org/wiki/Ventricular_septal_defect, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Interventricular septal defect" EXACT [MTHICD9_2006:745.4] +synonym: "Ventricular septal abnormality" EXACT [SNOMEDCT_2005_07_31:253549006] +xref: ICD10CM:Q21.0 +xref: ICD9CM:745.4 +xref: MSH:D006345 +xref: NCI:C84506 +xref: OMIM:614429 +xref: OMIM:614431 +xref: OMIM:614432 +xref: ORDO:1480 +xref: SNOMEDCT_US_2015_03_01:156914003 +xref: SNOMEDCT_US_2015_03_01:204309000 +xref: SNOMEDCT_US_2015_03_01:204310005 +xref: SNOMEDCT_US_2015_03_01:204314001 +xref: SNOMEDCT_US_2015_03_01:253549006 +xref: SNOMEDCT_US_2015_03_01:270547008 +xref: SNOMEDCT_US_2015_03_01:30288003 +xref: UMLS_CUI:C0018818 +is_a: DOID:1681 ! heart septal defect + +[Term] +id: DOID:1659 +name: supratentorial cancer +alt_id: DOID:1658 +def: "A brain cancer that is located_in the supratentorial region." [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli] +synonym: "Brain neoplasm, Supratentorial" EXACT [NCI2004_11_17:C3397] +synonym: "malignant Supratentorial tumor" EXACT [NCI2004_11_17:C4964] +xref: ICD10CM:C71.0 +xref: MSH:D015173 +xref: NCI:C3397 +xref: NCI:C4964 +xref: UMLS_CUI:C0038874 +xref: UMLS_CUI:C0751589 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:166 +name: melanotic neuroectodermal tumor +synonym: "Infantile Melanotic neuroectodermal neoplasm" EXACT [NCI2004_11_17:C3717] +synonym: "Melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:1513001] +synonym: "Melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253076000] +synonym: "Pigmented neuroectodermal tumour of infancy" EXACT [SNOMEDCT_2005_07_31:404042005] +xref: MSH:D017600 +xref: NCI:C3717 +xref: SNOMEDCT_US_2015_03_01:1513001 +xref: SNOMEDCT_US_2015_03_01:253076000 +xref: SNOMEDCT_US_2015_03_01:404042005 +xref: UMLS_CUI:C0206094 +is_a: DOID:0060094 ! bone benign neoplasm + +[Term] +id: DOID:1660 +name: malignant pineal area germ cell neoplasm +alt_id: DOID:1663 +synonym: "malignant Pineal Parenchymal germ cell tumor" EXACT [NCI2004_11_17:C6767] +synonym: "pineal germ cell tumor" EXACT [] +synonym: "Pineal germ cell tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:277508009] +synonym: "Pineal Region germ cell tumor" EXACT [NCI2004_11_17:C4659] +xref: NCI:C4659 +xref: NCI:C6767 +xref: SNOMEDCT_US_2015_03_01:277508009 +xref: UMLS_CUI:C0349621 +xref: UMLS_CUI:C1334612 +is_a: DOID:5032 ! pineal gland cancer + +[Term] +id: DOID:1661 +name: malignant intracranial germ cell neoplasm +is_obsolete: true + +[Term] +id: DOID:1664 +name: pineoblastoma +def: "A pineal gland neoplasm located_in the brain." [url:http\://en.wikipedia.org/wiki/Pinealoblastoma, url:http\://www.answers.com/topic/pineoblastoma] +subset: DO_cancer_slim +synonym: "Pineal PNET" EXACT [NCI2004_11_17:C9344] +xref: MSH:D010871 +xref: NCI:C9344 +xref: SNOMEDCT_US_2015_03_01:31671006 +xref: UMLS_CUI:C0205898 +is_a: DOID:5032 ! pineal gland cancer + +[Term] +id: DOID:1665 +name: central nervous system embryonal cancer +def: "An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord." [url:http\://www.cancer.gov/cancertopics/childCNSembryonal] +synonym: "embryonal neoplasm of CNS" RELATED [] +synonym: "embryonal tumor of the CNS" EXACT [NCI2004_11_17:C6990] +is_obsolete: true + +[Term] +id: DOID:1666 +name: hip enthesopathy +synonym: "Enthesopathy of hip region" EXACT [ICD9CM_2006:726.5] +synonym: "Enthesopathy of hip region (disorder)" EXACT [SNOMEDCT_2005_07_31:30936004] +synonym: "Enthesopathy of the hip region" EXACT [SNOMEDCT_2005_07_31:156661004] +synonym: "Enthesopathy of the hip region (disorder)" EXACT [SNOMEDCT_2005_07_31:202861009] +synonym: "Hip enthesopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:202866004] +synonym: "Hip enthesopathy, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:202862002] +is_obsolete: true + +[Term] +id: DOID:1667 +name: peripheral enthesopathy +is_obsolete: true + +[Term] +id: DOID:1670 +name: Behcet's syndrome arthropathy +alt_id: DOID:12407 +alt_id: DOID:12810 +alt_id: DOID:12982 +alt_id: DOID:1669 +alt_id: DOID:1671 +alt_id: DOID:7354 +alt_id: DOID:8473 +alt_id: DOID:8522 +synonym: "Arthropathy in Behcet's syndrome involving ankle and foot" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving forearm" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving hand" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving lower leg" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving multiple sites" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving shoulder region" EXACT [] +synonym: "Arthropathy in Behcet's syndrome involving upper arm" EXACT [] +synonym: "Behcet syndrome arthropathy" EXACT [] +xref: ICD9CM:711.2 +xref: ICD9CM:711.20 +xref: NCI:C35225 +xref: SNOMEDCT_US_2015_03_01:201484007 +xref: SNOMEDCT_US_2015_03_01:201494002 +xref: SNOMEDCT_US_2015_03_01:267884002 +xref: SNOMEDCT_US_2015_03_01:62918002 +xref: UMLS_CUI:C0157770 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:1672 +name: spontaneous tension pneumothorax +synonym: "spontaneous tension pneumothorax (disorder)" EXACT [SNOMEDCT_2005_07_31:196102003] +synonym: "spontaneous tension pneumothorax (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:76537003] +xref: ICD10CM:J93.0 +xref: ICD9CM:512.0 +xref: SNOMEDCT_US_2015_03_01:196102003 +xref: SNOMEDCT_US_2015_03_01:76537003 +xref: UMLS_CUI:C0155907 +is_a: DOID:1673 ! pneumothorax + +[Term] +id: DOID:1673 +name: pneumothorax +xref: ICD10CM:J93.1 +xref: SNOMEDCT_US_2015_03_01:196103008 +xref: SNOMEDCT_US_2015_03_01:196105001 +xref: SNOMEDCT_US_2015_03_01:196251008 +xref: SNOMEDCT_US_2015_03_01:266367007 +xref: UMLS_CUI:C0029850 +is_a: DOID:1532 ! pleural disease + +[Term] +id: DOID:1677 +name: low implantation of placenta +alt_id: DOID:1676 +alt_id: DOID:2167 +xref: ICD10CM:O44.0 +xref: ICD9CM:641.0 +xref: SNOMEDCT_US_2015_03_01:156099007 +xref: SNOMEDCT_US_2015_03_01:198897009 +xref: SNOMEDCT_US_2015_03_01:198898004 +xref: SNOMEDCT_US_2015_03_01:198902005 +xref: SNOMEDCT_US_2015_03_01:7792000 +xref: UMLS_CUI:C0156617 +is_a: DOID:11060 ! placenta praevia + +[Term] +id: DOID:1678 +name: chronic interstitial cystitis +synonym: "chronic interstitial cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:197834003] +synonym: "chronic interstitial cystitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:44497007] +synonym: "chronic interstitial cystitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197838000] +synonym: "Interstitial cystitis" EXACT [NCI2004_11_17:C27189] +xref: ICD10CM:N30.1 +xref: ICD9CM:595.1 +xref: MSH:D018856 +xref: SNOMEDCT_US_2015_03_01:197834003 +xref: SNOMEDCT_US_2015_03_01:197838000 +xref: SNOMEDCT_US_2015_03_01:44497007 +xref: UMLS_CUI:C0600040 +is_a: DOID:1680 ! chronic cystitis +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:1679 +name: cystitis +xref: ICD10CM:N30 +xref: ICD10CM:N30.9 +xref: ICD9CM:595 +xref: ICD9CM:595.9 +xref: MSH:D003556 +xref: NCI:C26738 +xref: SNOMEDCT_US_2015_03_01:155882000 +xref: SNOMEDCT_US_2015_03_01:155885003 +xref: SNOMEDCT_US_2015_03_01:197857009 +xref: SNOMEDCT_US_2015_03_01:266629000 +xref: SNOMEDCT_US_2015_03_01:38822007 +xref: UMLS_CUI:C0010692 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:1680 +name: chronic cystitis +xref: ICD10CM:N30.2 +xref: ICD9CM:595.2 +xref: SNOMEDCT_US_2015_03_01:197839008 +xref: SNOMEDCT_US_2015_03_01:197842002 +xref: SNOMEDCT_US_2015_03_01:198536006 +xref: UMLS_CUI:C0156268 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:1681 +name: heart septal defect +synonym: "Cardiac septal defects" EXACT [SNOMEDCT_2005_07_31:204290008] +synonym: "Cardiac septal defects (disorder)" EXACT [SNOMEDCT_2005_07_31:253273004] +synonym: "Congenital septal defect of heart (disorder)" EXACT [SNOMEDCT_2005_07_31:59494005] +synonym: "septal defect" EXACT [CSP2005:0725-0467] +synonym: "Septal defect NOS" EXACT [MTHICD9_2006:745.9] +synonym: "Septal defect NOS" EXACT [SNOMEDCT_2005_07_31:156916001] +synonym: "Septal defect NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:287081002] +xref: ICD10CM:Q21 +xref: ICD10CM:Q21.9 +xref: MSH:D006343 +xref: NCI:C84482 +xref: SNOMEDCT_US_2015_03_01:156916001 +xref: SNOMEDCT_US_2015_03_01:204290008 +xref: SNOMEDCT_US_2015_03_01:253273004 +xref: SNOMEDCT_US_2015_03_01:287081002 +xref: SNOMEDCT_US_2015_03_01:396351009 +xref: SNOMEDCT_US_2015_03_01:59494005 +xref: SNOMEDCT_US_2015_03_01:8352002 +xref: UMLS_CUI:C0018816 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:1682 +name: congenital heart disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital anomaly of heart" EXACT [SNOMEDCT_2005_07_31:13213009] +synonym: "congenital heart defect" EXACT [] +synonym: "Congenital Heart Defects" EXACT [MTH:NOCODE] +synonym: "heart defect" EXACT [CSP2005:0724-8315] +synonym: "Heart Malformation" EXACT [NCI2004_11_17:C34666] +synonym: "Heart-congenital defect" RELATED [SNOMEDCT_2005_07_31:156911006] +xref: ICD10CM:Q24.9 +xref: ICD9CM:746.9 +xref: MSH:D006330 +xref: NCI:C34666 +xref: SNOMEDCT_US_2015_03_01:13213009 +xref: SNOMEDCT_US_2015_03_01:156911006 +xref: SNOMEDCT_US_2015_03_01:156926008 +xref: SNOMEDCT_US_2015_03_01:204405005 +xref: SNOMEDCT_US_2015_03_01:204413006 +xref: SNOMEDCT_US_2015_03_01:268315002 +xref: SNOMEDCT_US_2015_03_01:268318000 +xref: UMLS_CUI:C0018798 +is_a: DOID:114 ! heart disease + +[Term] +id: DOID:1685 +name: glaucoma associated with vascular disorder +is_obsolete: true + +[Term] +id: DOID:1686 +name: glaucoma +xref: EFO:0000516 +xref: ICD10CM:H40 +xref: ICD10CM:H40-H42 +xref: ICD10CM:H40.9 +xref: ICD9CM:365 +xref: ICD9CM:365.9 +xref: MSH:D005901 +xref: NCI:C26782 +xref: SNOMEDCT_US_2015_03_01:155120009 +xref: SNOMEDCT_US_2015_03_01:193569008 +xref: SNOMEDCT_US_2015_03_01:194631001 +xref: SNOMEDCT_US_2015_03_01:23986001 +xref: UMLS_CUI:C0017601 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:1687 +name: neovascular glaucoma +synonym: "Neovascular glaucoma" EXACT [SNOMEDCT_2005_07_31:193564003] +synonym: "Neovascular glaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:232086000] +synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [SNOMEDCT_2005_07_31:314785001] +xref: MSH:D015355 +xref: SNOMEDCT_US_2015_03_01:193564003 +xref: SNOMEDCT_US_2015_03_01:232086000 +xref: SNOMEDCT_US_2015_03_01:314785001 +xref: UMLS_CUI:C0017609 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:169 +name: neuroendocrine tumor +def: "An endocrine gland cancer that has_material_basis_in neuroendocrine cells." [url:http\://en.wikipedia.org/wiki/Neuroendocrine_cell, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] +synonym: "neuroendocrine neoplasm" EXACT [SNOMEDCT_2005_07_31:128928004] +xref: ICD10CM:D3A.8 +xref: ICD9CM:209 +xref: ICD9CM:209-209.99 +xref: MSH:D018358 +xref: NCI:C3809 +xref: SNOMEDCT_US_2015_03_01:128928004 +xref: SNOMEDCT_US_2015_03_01:255046005 +xref: UMLS_CUI:C0206754 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:1695 +name: congenital ichthyosis +synonym: "(Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS)" EXACT [SNOMEDCT_2005_07_31:205556009] +synonym: "Congenital ichthyosis of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:13059002] +synonym: "Congenital ichthyosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:205547001] +synonym: "Ichthyosis congenita" EXACT [ICD9CM_2006:757.1] +synonym: "Ichthyosis congenita" EXACT [SNOMEDCT_2005_07_31:268355000] +synonym: "Ichthyosis congenita" EXACT [SNOMEDCT_2005_07_31:157017000] +synonym: "ichthyosis congenita" EXACT [CSP2005:0726-9470] +synonym: "Ichthyosis congenita NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268283000] +is_obsolete: true + +[Term] +id: DOID:1697 +name: ichthyosis +synonym: "ichthyoses" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1699 +name: congenital ichthyosiform erythroderma +alt_id: DOID:1696 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alligator skin" EXACT [SNOMEDCT_2005_07_31:205556009] +synonym: "Congenital non bullous ichthyosiform erythroderma" EXACT [SNOMEDCT_2005_07_31:12215009] +synonym: "Ichthyosiform erythroderma" EXACT [MTHICD9_2006:757.1, SNOMEDCT_2005_07_31:205549003] +synonym: "Lamellar desquamation of the newborn" RELATED [SNOMEDCT_2005_07_31:268245001] +synonym: "lamellar ichthyosis" EXACT [CSP2005:0726-9470] +synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [] +xref: ICD10CM:Q80.2 +xref: MSH:D016113 +xref: MSH:D017490 +xref: NCI:C84805 +xref: OMIM:242100 +xref: SNOMEDCT_US_2015_03_01:12215009 +xref: SNOMEDCT_US_2015_03_01:205549003 +xref: SNOMEDCT_US_2015_03_01:205550003 +xref: SNOMEDCT_US_2015_03_01:205556009 +xref: SNOMEDCT_US_2015_03_01:254156001 +xref: SNOMEDCT_US_2015_03_01:267372009 +xref: SNOMEDCT_US_2015_03_01:268245001 +xref: SNOMEDCT_US_2015_03_01:268282005 +xref: SNOMEDCT_US_2015_03_01:35970001 +xref: UMLS_CUI:C0079154 +xref: UMLS_CUI:C0079583 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:17 +name: musculoskeletal system disease +def: "A disease of anatomical entity that occurs in the muscular and/or skeletal system." [url:http\://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders] +xref: MSH:D009140 +xref: NCI:C107377 +xref: SNOMEDCT_US_2015_03_01:156881000 +xref: SNOMEDCT_US_2015_03_01:268047003 +xref: SNOMEDCT_US_2015_03_01:268142006 +xref: SNOMEDCT_US_2015_03_01:274149006 +xref: SNOMEDCT_US_2015_03_01:928000 +xref: UMLS_CUI:C0026857 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:170 +name: endocrine gland cancer +alt_id: DOID:10009 +def: "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system." [url:http\://en.wikipedia.org/wiki/Endocrine_system] +subset: TopNodes_DOcancerslim +synonym: "endocrine neoplasm" EXACT [CSP2005:2009-5861] +synonym: "Endocrine tumor" EXACT [NCI2004_11_17:C3010] +synonym: "malignant Endocrine tumor" EXACT [NCI2004_11_17:C3575] +synonym: "malignant neoplasm of endocrine gland" EXACT [] +synonym: "malignant tumour of endocrine gland" EXACT [SNOMEDCT_2005_07_31:93780007] +synonym: "neoplasm of endocrine gland (disorder)" EXACT [SNOMEDCT_2005_07_31:387922007] +synonym: "neoplasm of endocrine gland (disorder)" EXACT [SNOMEDCT_2005_07_31:127015005] +synonym: "neoplasm of endocrine system (disorder)" EXACT [SNOMEDCT_2005_07_31:387927001] +xref: ICD10CM:C75.9 +xref: ICD9CM:194.9 +xref: MSH:D004701 +xref: NCI:C3010 +xref: NCI:C3575 +xref: SNOMEDCT_US_2015_03_01:127015005 +xref: SNOMEDCT_US_2015_03_01:190140005 +xref: SNOMEDCT_US_2015_03_01:363347009 +xref: SNOMEDCT_US_2015_03_01:371982006 +xref: SNOMEDCT_US_2015_03_01:387922007 +xref: SNOMEDCT_US_2015_03_01:387927001 +xref: SNOMEDCT_US_2015_03_01:93780007 +xref: UMLS_CUI:C0014132 +xref: UMLS_CUI:C0153658 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:1700 +name: X-linked ichthyosis +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [SNOMEDCT_2005_07_31:72523005] +synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [SNOMEDCT_2005_07_31:3944006] +synonym: "X-linked recessive ichthyosis" EXACT [SNOMEDCT_2005_07_31:205552006] +xref: ICD10CM:Q80.1 +xref: MSH:D016114 +xref: NCI:C84779 +xref: OMIM:308100 +xref: SNOMEDCT_US_2015_03_01:205552006 +xref: SNOMEDCT_US_2015_03_01:254160003 +xref: SNOMEDCT_US_2015_03_01:402771003 +xref: SNOMEDCT_US_2015_03_01:72523005 +xref: UMLS_CUI:C0079588 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:1701 +name: steroid inherited metabolic disorder +def: "A lipid metabolism disorder that involves defects in steroid metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism, url:http\://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140] +xref: MSH:D043202 +xref: UMLS_CUI:C1257809 +is_a: DOID:3146 ! lipid metabolism disorder + +[Term] +id: DOID:1702 +name: ichthyosis vulgaris +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dominant congenital ichthyosiform erythroderma (disorder)" EXACT [SNOMEDCT_2005_07_31:20512000] +xref: ICD10CM:Q80.0 +xref: MSH:D016112 +xref: NCI:C84778 +xref: OMIM:146700 +xref: SNOMEDCT_US_2015_03_01:20512000 +xref: SNOMEDCT_US_2015_03_01:205551004 +xref: SNOMEDCT_US_2015_03_01:254157005 +xref: UMLS_CUI:C0079584 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:1703 +name: Richter's syndrome +synonym: "Richter syndrome" EXACT [] +xref: ICD10CM:C91.1 +xref: NCI:C35424 +xref: SNOMEDCT_US_2015_03_01:277550009 +xref: UMLS_CUI:C0349631 +is_a: DOID:1040 ! chronic lymphocytic leukemia + +[Term] +id: DOID:1709 +name: rickettsiosis +alt_id: DOID:0050027 +alt_id: DOID:0050031 +alt_id: DOID:0050033 +alt_id: DOID:10243 +subset: gram-negative_bacterial_infectious_disease +synonym: "flea-borne rickettsiosis" EXACT [] +synonym: "mite-borne rickettsiosis" EXACT [] +synonym: "rickettsia infection" RELATED [] +synonym: "rickettsiosis" EXACT [] +synonym: "tick-borne rickettsiosis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:171 +name: neuroectodermal tumor +synonym: "primitive Neuroectodermal neoplasm" EXACT [NCI2004_11_17:C3716] +xref: MSH:D017599 +xref: NCI:C3716 +xref: SNOMEDCT_US_2015_03_01:253096008 +xref: SNOMEDCT_US_2015_03_01:73676002 +xref: UMLS_CUI:C0206093 +is_a: DOID:3093 ! nervous system cancer + +[Term] +id: DOID:1712 +name: aortic valve stenosis +alt_id: DOID:12034 +alt_id: DOID:1711 +def: "An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve." [url:http\://en.wikipedia.org/wiki/Aortic_valve_stenosis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Aortic stenosis" EXACT [SNOMEDCT_2005_07_31:390722003] +synonym: "AS" EXACT [] +synonym: "Congenital aortic valve stenosis" EXACT [SNOMEDCT_2005_07_31:156922005] +synonym: "Rheumatic aortic stenosis" EXACT [ICD9CM_2006:395.0, SNOMEDCT_2005_07_31:155282009] +synonym: "rheumatic aortic valve stenosis" EXACT [] +xref: ICD10CM:I06.0 +xref: ICD10CM:Q23.0 +xref: ICD9CM:395.0 +xref: ICD9CM:746.3 +xref: MSH:D001024 +xref: NCI:C50462 +xref: OMIM:109730 +xref: OMIM:614823 +xref: ORDO:402075 +xref: SNOMEDCT_US_2015_03_01:155282009 +xref: SNOMEDCT_US_2015_03_01:156922005 +xref: SNOMEDCT_US_2015_03_01:18546004 +xref: SNOMEDCT_US_2015_03_01:390722003 +xref: SNOMEDCT_US_2015_03_01:60573004 +xref: SNOMEDCT_US_2015_03_01:72011007 +xref: UMLS_CUI:C0003507 +xref: UMLS_CUI:C0152417 +xref: UMLS_CUI:C0155567 +is_a: DOID:62 ! aortic valve disease + +[Term] +id: DOID:1713 +name: benign shuddering attacks +xref: ICD10CM:G25.83 +xref: ICD9CM:333.93 +xref: SNOMEDCT_US_2015_03_01:446995005 +xref: UMLS_CUI:C0375200 +is_a: DOID:481 ! central nervous system hereditary degenerative disease + +[Term] +id: DOID:172 +name: clear cell acanthoma +synonym: "Clear cell acanthoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254670002] +synonym: "Clear cell acanthoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:65540008] +synonym: "Pale (Clear cell) acanthoma" EXACT [NCI2004_11_17:C4085] +xref: MSH:D049309 +xref: NCI:C97041 +xref: SNOMEDCT_US_2015_03_01:254670002 +xref: SNOMEDCT_US_2015_03_01:65540008 +xref: UMLS_CUI:C0333992 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:1724 +name: duodenal ulcer +alt_id: DOID:10297 +alt_id: DOID:11480 +alt_id: DOID:12880 +alt_id: DOID:13836 +alt_id: DOID:1723 +alt_id: DOID:9780 +alt_id: DOID:9781 +alt_id: DOID:9782 +alt_id: DOID:9783 +comment: Adding UMLS CUI for Curling Ulcer C0013295. +synonym: "Curling Ulcer" EXACT [] +synonym: "Curling's ulcers (disorder)" EXACT [SNOMEDCT_2005_07_31:39755000] +synonym: "DU - acute + perforation" EXACT [SNOMEDCT_2005_07_31:266500006] +synonym: "Stress Ulcer" EXACT [NCI2004_11_17:C35263] +synonym: "Stress ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:415623008, SNOMEDCT_2005_07_31:77282005] +synonym: "Stress ulcer NOS" EXACT [SNOMEDCT_2005_07_31:196681007] +xref: ICD10CM:K26 +xref: ICD9CM:532 +xref: MSH:D004381 +xref: NCI:C26755 +xref: SNOMEDCT_US_2015_03_01:155691003 +xref: SNOMEDCT_US_2015_03_01:155700000 +xref: SNOMEDCT_US_2015_03_01:196651004 +xref: SNOMEDCT_US_2015_03_01:196669008 +xref: SNOMEDCT_US_2015_03_01:196672001 +xref: SNOMEDCT_US_2015_03_01:196679005 +xref: SNOMEDCT_US_2015_03_01:196680008 +xref: SNOMEDCT_US_2015_03_01:235703009 +xref: SNOMEDCT_US_2015_03_01:367474008 +xref: SNOMEDCT_US_2015_03_01:39755000 +xref: SNOMEDCT_US_2015_03_01:51868009 +xref: SNOMEDCT_US_2015_03_01:553009 +xref: UMLS_CUI:C0010474 +xref: UMLS_CUI:C0013295 +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:1725 +name: peritoneum cancer +def: "An organ system cancer that is located in the peritoneum." [url:http\://en.wikipedia.org/wiki/Peritoneal_cancer] +subset: TopNodes_DOcancerslim +synonym: "cancer of peritoneum" RELATED [] +synonym: "peritoneal neoplasm" RELATED [] +xref: ICD10CM:C48.1 +xref: ICD9CM:158.8 +xref: SNOMEDCT_US_2015_03_01:187808008 +xref: SNOMEDCT_US_2015_03_01:187816004 +xref: UMLS_CUI:C0153466 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:1726 +name: partial of retinal vein occlusion +synonym: "Partial occlusion of retinal vein (disorder)" EXACT [SNOMEDCT_2005_07_31:65593009] +synonym: "Partial Retinal Vein Occlusion" EXACT [NCI2004_11_17:C35341] +xref: ICD10CM:H34.82 +xref: NCI:C35341 +xref: SNOMEDCT_US_2015_03_01:65593009 +xref: UMLS_CUI:C0271080 +is_a: DOID:1727 ! retinal vein occlusion + +[Term] +id: DOID:1727 +name: retinal vein occlusion +synonym: "Occlusion, of retinal vein" EXACT [MTHICD9_2006:362.37] +synonym: "Retinal vein occlusion" EXACT [SNOMEDCT_2005_07_31:46085004] +xref: MSH:D012170 +xref: NCI:C34981 +xref: SNOMEDCT_US_2015_03_01:46085004 +xref: UMLS_CUI:C0035328 +is_a: DOID:1729 ! retinal vascular occlusion + +[Term] +id: DOID:1729 +name: retinal vascular occlusion +synonym: "Retinal vasc. occlusion" EXACT [SNOMEDCT_2005_07_31:155111000] +synonym: "Retinal vasc. occlusion" EXACT [SNOMEDCT_2005_07_31:267717005] +synonym: "Retinal vascular Occlusion" EXACT [NCI2004_11_17:C34980] +synonym: "Retinal vascular occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:73757007] +synonym: "Retinal vascular occlusion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193380009] +synonym: "Retinal vascular occlusion, unspecified" EXACT [ICD9CM_2006:362.30] +synonym: "Unspecified retinal vascular occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:193373007] +xref: ICD10CM:H34 +xref: ICD10CM:H34.9 +xref: ICD9CM:362.3 +xref: ICD9CM:362.30 +xref: NCI:C34980 +xref: SNOMEDCT_US_2015_03_01:155111000 +xref: SNOMEDCT_US_2015_03_01:193373007 +xref: SNOMEDCT_US_2015_03_01:193380009 +xref: SNOMEDCT_US_2015_03_01:267717005 +xref: SNOMEDCT_US_2015_03_01:73757007 +xref: UMLS_CUI:C0035326 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:173 +name: eccrine sweat gland neoplasm +synonym: "eccrine skin neoplasm" EXACT [] +synonym: "Eccrine tumor" EXACT [NCI2004_11_17:C6796] +xref: NCI:C6796 +xref: UMLS_CUI:C1333371 +is_a: DOID:2664 ! sweat gland neoplasm + +[Term] +id: DOID:1730 +name: histoplasmosis pneumonia +def: "A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] +synonym: "Histoplasmosis with pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:187061004] +synonym: "Pneumonia with histoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:195905006] +is_obsolete: true + +[Term] +id: DOID:1731 +name: histoplasmosis +alt_id: DOID:351 +def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." [url:http\://www.cdc.gov/niosh/hi97146.html] +synonym: "Reticuloendothelial hyperplasia" EXACT [NCI2004_11_17:C34977] +synonym: "reticuloendotheliosis" EXACT [CSP2005:0427-8963] +xref: ICD10CM:B39 +xref: ICD10CM:B39.9 +xref: ICD9CM:115 +xref: ICD9CM:115.9 +xref: MSH:C538362 +xref: MSH:D006660 +xref: NCI:C34977 +xref: NCI:C77201 +xref: SNOMEDCT_US_2015_03_01:12962009 +xref: SNOMEDCT_US_2015_03_01:154408001 +xref: SNOMEDCT_US_2015_03_01:187055002 +xref: SNOMEDCT_US_2015_03_01:187056001 +xref: SNOMEDCT_US_2015_03_01:187063001 +xref: SNOMEDCT_US_2015_03_01:187482000 +xref: SNOMEDCT_US_2015_03_01:266218008 +xref: UMLS_CUI:C0019655 +xref: UMLS_CUI:C0035288 +is_a: DOID:0050292 ! primary systemic mycosis + +[Term] +id: DOID:1733 +name: cryptosporidiosis +alt_id: DOID:1732 +def: "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm] +subset: zoonotic_infectious_disease +synonym: "Cryptosporidial gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:66160001] +synonym: "Infection by Cryptosporidium (disorder)" EXACT [SNOMEDCT_2005_07_31:58777003] +synonym: "intestinal cryptosporidiosis" EXACT [ICD9CM_2006:007.4] +xref: ICD10CM:A07.2 +xref: ICD9CM:007.4 +xref: MSH:D003457 +xref: SNOMEDCT_US_2015_03_01:186126003 +xref: SNOMEDCT_US_2015_03_01:240370009 +xref: SNOMEDCT_US_2015_03_01:58777003 +xref: UMLS_CUI:C0010418 +is_a: DOID:2113 ! coccidiosis + +[Term] +id: DOID:1734 +name: viral gastroenteritis +alt_id: DOID:1497 +def: "A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1] +is_obsolete: true + +[Term] +id: DOID:1737 +name: duodenal benign neoplasm +synonym: "neoplasm of duodenum" EXACT [SNOMEDCT_2005_07_31:126833009] +synonym: "neoplasm of the duodenum" EXACT [NCI2004_11_17:C2995] +xref: MSH:D004379 +xref: NCI:C2995 +xref: SNOMEDCT_US_2015_03_01:126833009 +xref: UMLS_CUI:C0013291 +is_a: DOID:7505 ! small intestine neoplasm + +[Term] +id: DOID:1738 +name: small intestine leiomyoma +synonym: "leiomyoma, small Bowel" EXACT [NCI2004_11_17:C7725] +xref: NCI:C7725 +xref: SNOMEDCT_US_2015_03_01:424279009 +xref: UMLS_CUI:C0238197 +is_a: DOID:7505 ! small intestine neoplasm + +[Term] +id: DOID:174 +name: acanthoma +xref: MSH:D049309 +xref: NCI:C7419 +xref: UMLS_CUI:C0846967 +is_a: DOID:3168 ! squamous cell neoplasm + +[Term] +id: DOID:1741 +name: drug-induced psychotic disease with delusion +is_obsolete: true + +[Term] +id: DOID:1742 +name: drug psychosis +synonym: "Drug-induced psychosis" EXACT [SNOMEDCT_2005_07_31:154855001] +synonym: "Drug-induced psychotic disorder" EXACT [ICD9CM_2006:292.1] +xref: ICD9CM:292.1 +xref: MSH:D011605 +xref: SNOMEDCT_US_2015_03_01:154855001 +xref: SNOMEDCT_US_2015_03_01:191483003 +xref: SNOMEDCT_US_2015_03_01:191498001 +xref: UMLS_CUI:C0033937 +is_a: DOID:1203 ! drug-induced mental disorder + +[Term] +id: DOID:1744 +name: malignant lymphatic vessel tumor +synonym: "Lymphatic vessel tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115236002] +synonym: "Lymphatic vessel tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134168002] +synonym: "Lymphatic vessel tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189876004] +synonym: "neoplasm of the Lymphatic Vessel" EXACT [NCI2004_11_17:C3723] +is_obsolete: true + +[Term] +id: DOID:1748 +name: conjunctiva squamous cell carcinoma +synonym: "Conjunctival Epidermoid carcinoma" EXACT [NCI2004_11_17:C4549] +synonym: "squamous cell carcinoma of colon" RELATED [] +synonym: "squamous cell carcinoma of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:255003007] +xref: NCI:C4549 +xref: SNOMEDCT_US_2015_03_01:255003007 +xref: UMLS_CUI:C0346359 +is_a: DOID:5467 ! conjunctival cancer + +[Term] +id: DOID:1749 +name: squamous cell carcinoma +alt_id: DOID:5512 +def: "A carcinoma that derives_from squamous epithelial cells." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma, url:http\://www.medicinenet.com/skin_cancer/page2.htm] +synonym: "epidermoid carcinoma" EXACT [CSP2005:2000-3145] +synonym: "malignant squamous cell tumor" EXACT [NCI2004_11_17:C4971] +synonym: "squamous carcinoma" EXACT [NCI2004_11_17:C2929] +synonym: "squamous cell cancer" EXACT [] +synonym: "squamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:402815007] +synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28899001] +synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189566008] +synonym: "squamous cell Epithelioma" EXACT [NCI2004_11_17:C8999] +xref: EFO:0000707 +xref: MSH:D002294 +xref: MSH:D018307 +xref: NCI:C2929 +xref: SNOMEDCT_US_2015_03_01:154605007 +xref: SNOMEDCT_US_2015_03_01:189566008 +xref: SNOMEDCT_US_2015_03_01:28899001 +xref: SNOMEDCT_US_2015_03_01:402815007 +xref: UMLS_CUI:C0007137 +xref: UMLS_CUI:C0751688 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:175 +name: vascular cancer +alt_id: DOID:3339 +alt_id: DOID:5454 +alt_id: DOID:5548 +alt_id: DOID:7019 +alt_id: DOID:7020 +alt_id: DOID:7392 +def: "A cardiovascular cancer that is located_in blood vessels." [url:http\://en.wikipedia.org/wiki/Vascular] +subset: TopNodes_DOcancerslim +synonym: "Blood Vessel neoplasm" EXACT [NCI2004_11_17:C7387] +synonym: "blood vessel neoplasm" EXACT [CSP2005:2007-0683] +synonym: "Blood vessel tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115235003] +synonym: "Blood vessel tumors (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189862000] +synonym: "Blood vessel tumour disorder" EXACT [SNOMEDCT_2005_07_31:126736007] +synonym: "Haemangiomatous tumour" EXACT [SNOMEDCT_2005_07_31:189874001] +synonym: "leiomyosarcoma of the renal Vein" EXACT [NCI2004_11_17:C5388] +synonym: "malignant great vessel tumor" EXACT [] +synonym: "malignant tumor of pulmonary artery" EXACT [NCI2004_11_17:C5380] +synonym: "malignant tumor of pulmonary Vein" EXACT [NCI2004_11_17:C5383] +synonym: "malignant vascular neoplasm" EXACT [] +synonym: "malignant vascular tumor" EXACT [NCI2004_11_17:C7390] +synonym: "neoplasm of great vessel" EXACT [] +synonym: "pulmonary artery malignant neoplasm" EXACT [] +synonym: "pulmonary vein malignant neoplasm" EXACT [] +synonym: "renal vein leiomyosarcoma" EXACT [] +synonym: "vascular tissue neoplasm" EXACT [] +synonym: "vascular tumors" EXACT [NCI2004_11_17:C7388] +xref: MSH:D019043 +xref: NCI:C5348 +xref: NCI:C5380 +xref: NCI:C5383 +xref: NCI:C5388 +xref: NCI:C7388 +xref: NCI:C7390 +xref: SNOMEDCT_US_2015_03_01:126737003 +xref: SNOMEDCT_US_2015_03_01:93817006 +xref: UMLS_CUI:C0282607 +xref: UMLS_CUI:C0346845 +xref: UMLS_CUI:C1290407 +xref: UMLS_CUI:C1334616 +xref: UMLS_CUI:C1334617 +xref: UMLS_CUI:C1334630 +xref: UMLS_CUI:C1335753 +is_a: DOID:176 ! cardiovascular cancer + +[Term] +id: DOID:1751 +name: malignant conjunctiva melanoma +synonym: "Conjunctival melanoma" EXACT [NCI2004_11_17:C4550] +synonym: "malignant melanoma of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:255004001] +xref: NCI:C4550 +xref: SNOMEDCT_US_2015_03_01:255004001 +xref: UMLS_CUI:C0346360 +is_a: DOID:5467 ! conjunctival cancer + +[Term] +id: DOID:1752 +name: ocular melanoma +def: "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye." [url:http\://www.cancer.gov/dictionary?CdrID=269467] +synonym: "eye melanoma" EXACT [] +synonym: "intraocular melanoma" EXACT [] +synonym: "melanoma of eye" EXACT [NCI2004_11_17:C8562] +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:1754 +name: mitral valve stenosis +def: "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." [url:http\://en.wikipedia.org/wiki/Mitral_valve_stenosis] +synonym: "Mitral stenosis" EXACT [SNOMEDCT_2005_07_31:194725005] +xref: MSH:D008946 +xref: NCI:C50654 +xref: SNOMEDCT_US_2015_03_01:155277002 +xref: SNOMEDCT_US_2015_03_01:194725005 +xref: SNOMEDCT_US_2015_03_01:79619009 +xref: UMLS_CUI:C0026269 +is_a: DOID:61 ! mitral valve disease + +[Term] +id: DOID:1756 +name: facial nerve disease +xref: ICD10CM:G51 +xref: ICD10CM:G51.9 +xref: ICD9CM:351 +xref: ICD9CM:351.9 +xref: MSH:D005155 +xref: NCI:C27594 +xref: SNOMEDCT_US_2015_03_01:155069009 +xref: SNOMEDCT_US_2015_03_01:155071009 +xref: SNOMEDCT_US_2015_03_01:193097005 +xref: SNOMEDCT_US_2015_03_01:230543003 +xref: SNOMEDCT_US_2015_03_01:267704007 +xref: SNOMEDCT_US_2015_03_01:422426003 +xref: SNOMEDCT_US_2015_03_01:90039006 +xref: UMLS_CUI:C0015464 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:1757 +name: facial hemiatrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "PARRY-ROMBERG SYNDROME" EXACT [] +xref: MSH:D005150 +xref: NCI:C84703 +xref: OMIM:141300 +xref: SNOMEDCT_US_2015_03_01:29868009 +xref: SNOMEDCT_US_2015_03_01:95834000 +xref: UMLS_CUI:C0015458 +is_a: DOID:1756 ! facial nerve disease + +[Term] +id: DOID:1758 +name: Histoplasma capsulatum pneumonia +def: "An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] +is_obsolete: true + +[Term] +id: DOID:1759 +name: American histoplasmosis +def: "A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16940867] +xref: ICD10CM:B39.4 +xref: ICD9CM:115.0 +xref: SNOMEDCT_US_2015_03_01:187036002 +xref: SNOMEDCT_US_2015_03_01:187037006 +xref: SNOMEDCT_US_2015_03_01:187046000 +xref: SNOMEDCT_US_2015_03_01:76255006 +xref: UMLS_CUI:C0153261 +is_a: DOID:1731 ! histoplasmosis + +[Term] +id: DOID:176 +name: cardiovascular cancer +def: "An organ system cancer that located_in the heart and blood vessels." [url:http\://www.cancer.gov/dictionary?CdrID=44005, url:http\://www.healthcentral.com/heart-disease/h/cardiovascular-cancer.html] +synonym: "cardiovascular neoplasm" EXACT [CSP2005:2007-0683] +synonym: "Cardiovascular tumors" EXACT [NCI2004_11_17:C4784] +xref: NCI:C4784 +xref: UMLS_CUI:C0497243 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:1760 +name: facial nerve neoplasm +synonym: "neoplasm of facial nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126973004] +synonym: "tumor of Facial nerve" EXACT [NCI2004_11_17:C5827] +xref: NCI:C5827 +xref: SNOMEDCT_US_2015_03_01:126973004 +xref: UMLS_CUI:C1263899 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:1761 +name: Melkersson-Rosenthal syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [SNOMEDCT_2005_07_31:2511001] +synonym: "Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder)" EXACT [SNOMEDCT_2005_07_31:215617000] +synonym: "Melkersson's syndrome" EXACT [MTHICD9_2006:351.8] +synonym: "Melkersson's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:37770007] +xref: ICD10CM:G51.2 +xref: MSH:D008556 +xref: NCI:C84886 +xref: OMIM:155900 +xref: SNOMEDCT_US_2015_03_01:215617000 +xref: SNOMEDCT_US_2015_03_01:2511001 +xref: SNOMEDCT_US_2015_03_01:37770007 +xref: UMLS_CUI:C0025235 +is_a: DOID:1756 ! facial nerve disease +is_a: DOID:1762 ! cheilitis + +[Term] +id: DOID:1762 +name: cheilitis +def: "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa." [url:http\://en.wikipedia.org/wiki/Cheilitis] +xref: HP:0100825 +xref: ICD10CM:K13.0 +xref: MSH:D002613 +xref: NCI:C79545 +xref: SNOMEDCT_US_2015_03_01:155664000 +xref: SNOMEDCT_US_2015_03_01:196557006 +xref: SNOMEDCT_US_2015_03_01:266495008 +xref: SNOMEDCT_US_2015_03_01:7847004 +xref: UMLS_CUI:C0007971 +is_a: DOID:9297 ! lip disease + +[Term] +id: DOID:1766 +name: factitious disorder +def: "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness." [url:http\://en.wikipedia.org/wiki/Factitious_disorder, url:http\://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx] +synonym: "Munchausen syndrome " EXACT [] +xref: ICD10CM:F68.11 +xref: ICD9CM:300.16 +xref: SNOMEDCT_US_2015_03_01:31122002 +xref: SNOMEDCT_US_2015_03_01:430751001 +xref: UMLS_CUI:C0015481 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:1768 +name: conversion disorder +def: "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause." [url:http\://en.wikipedia.org/wiki/Conversion_disorder] +synonym: "Conversion hysteria or reaction" EXACT [MTHICD9_2006:300.11] +synonym: "Conversion Hysterical Neurosis" EXACT [MTH:NOCODE] +synonym: "Hysterical neurosis, conversion type" EXACT [SNOMEDCT_2005_07_31:89239005] +xref: ICD10CM:F44 +xref: ICD9CM:300.11 +xref: MSH:D003291 +xref: SNOMEDCT_US_2015_03_01:20734000 +xref: SNOMEDCT_US_2015_03_01:44376007 +xref: SNOMEDCT_US_2015_03_01:89239005 +xref: UMLS_CUI:C0009946 +is_a: DOID:4737 ! somatoform disorder + +[Term] +id: DOID:1770 +name: toxic megacolon +synonym: "Toxic megacolon (disorder)" EXACT [SNOMEDCT_2005_07_31:28536002] +xref: ICD10CM:K59.3 +xref: MSH:D008532 +xref: SNOMEDCT_US_2015_03_01:28536002 +xref: UMLS_CUI:C0025162 +is_a: DOID:11372 ! megacolon + +[Term] +id: DOID:1776 +name: labyrinthine unilateral reactive loss +synonym: "Labyrinthine unilateral reactive loss (disorder)" EXACT [SNOMEDCT_2005_07_31:194376005] +synonym: "Loss of labyrinthine reactivity, unilateral" EXACT [ICD9CM_2006:386.55] +synonym: "Unilateral loss of labyrinthine reactivity (disorder)" EXACT [SNOMEDCT_2005_07_31:43000004] +xref: ICD9CM:386.55 +xref: SNOMEDCT_US_2015_03_01:194376005 +xref: SNOMEDCT_US_2015_03_01:43000004 +xref: UMLS_CUI:C0155519 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:1777 +name: unilateral hyperactive labyrinth +synonym: "hyperactive labyrinth, unilateral" EXACT [ICD9CM_2006:386.51] +synonym: "hyperactive unilateral labyrinthine dysfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:194372007] +synonym: "Unilateral hyperactive labyrinth (disorder)" EXACT [SNOMEDCT_2005_07_31:111542008] +xref: ICD9CM:386.51 +xref: SNOMEDCT_US_2015_03_01:111542008 +xref: SNOMEDCT_US_2015_03_01:194372007 +xref: UMLS_CUI:C0155515 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:178 +name: vascular disease +alt_id: DOID:0000405 +alt_id: DOID:2403 +alt_id: DOID:2869 +alt_id: DOID:324 +alt_id: DOID:325 +alt_id: DOID:45 +def: "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart." [url:http\://en.wikipedia.org/wiki/Vascular_disease] +synonym: "vascular tissue disease" EXACT [] +xref: ICD10CM:I72.9 +xref: ICD9CM:442.9 +xref: MSH:D000783 +xref: MSH:D014652 +xref: MSH:D020758 +xref: MSH:D020760 +xref: NCI:C26693 +xref: NCI:C35117 +xref: SNOMEDCT_US_2015_03_01:134342004 +xref: SNOMEDCT_US_2015_03_01:155425005 +xref: SNOMEDCT_US_2015_03_01:155428007 +xref: SNOMEDCT_US_2015_03_01:195292009 +xref: SNOMEDCT_US_2015_03_01:27550009 +xref: SNOMEDCT_US_2015_03_01:362727005 +xref: SNOMEDCT_US_2015_03_01:371029002 +xref: SNOMEDCT_US_2015_03_01:432119003 +xref: SNOMEDCT_US_2015_03_01:85659009 +xref: UMLS_CUI:C0002940 +xref: UMLS_CUI:C0042373 +xref: UMLS_CUI:C0752127 +xref: UMLS_CUI:C0752130 +is_a: DOID:1287 ! cardiovascular system disease + +[Term] +id: DOID:1781 +name: thyroid cancer +alt_id: DOID:10008 +def: "An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage." [url:http\://en.wikipedia.org/wiki/Thyroid_gland] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of thyroid gland" EXACT [ICD9CM_2006:193] +synonym: "malignant tumour of thyroid gland" EXACT [SNOMEDCT_2005_07_31:154554008] +synonym: "neoplasm of thyroid gland" EXACT [SNOMEDCT_2005_07_31:127018007] +synonym: "Thyroid gland neoplasm" EXACT [NCI2004_11_17:C3414] +synonym: "thyroid neoplasm" EXACT [MTH:NOCODE] +xref: ICD10CM:C73 +xref: ICD9CM:193 +xref: KEGG:05216 +xref: MSH:D013964 +xref: NCI:C3414 +xref: NCI:C7510 +xref: SNOMEDCT_US_2015_03_01:127018007 +xref: SNOMEDCT_US_2015_03_01:154554008 +xref: SNOMEDCT_US_2015_03_01:363478007 +xref: SNOMEDCT_US_2015_03_01:94098005 +xref: UMLS_CUI:C0007115 +xref: UMLS_CUI:C0040136 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:1785 +name: pituitary cancer +alt_id: DOID:5671 +def: "An endocrine gland cancer located_in the pituitary gland located at the base of the brain." [url:http\://en.wikipedia.org/wiki/Pituitary_gland] +synonym: "malignant Pituitary neoplasm" EXACT [NCI2004_11_17:C4769] +synonym: "malignant tumor of pituitary gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363482009] +synonym: "neoplasm of pituitary gland (disorder)" EXACT [SNOMEDCT_2005_07_31:127024001] +synonym: "pituitary gland cancer" EXACT [] +synonym: "Pituitary gland neoplasm" EXACT [NCI2004_11_17:C3330] +synonym: "pituitary neoplasm" EXACT [CSP2005:2006-7421] +xref: ICD10CM:C75.1 +xref: MSH:D010911 +xref: NCI:C3330 +xref: NCI:C4769 +xref: SNOMEDCT_US_2015_03_01:127024001 +xref: SNOMEDCT_US_2015_03_01:363482009 +xref: SNOMEDCT_US_2015_03_01:93964007 +xref: UMLS_CUI:C0032019 +xref: UMLS_CUI:C0496842 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:1786 +name: adrenal rest tumor +synonym: "Adrenal Rest neoplasm" EXACT [NCI2004_11_17:C2860] +xref: MSH:D000314 +xref: NCI:C2860 +xref: SNOMEDCT_US_2015_03_01:54292009 +xref: UMLS_CUI:C0001630 +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:1787 +name: pericarditis +def: "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." [url:http\://en.wikipedia.org/wiki/Pericarditis] +xref: MSH:D010493 +xref: NCI:C34915 +xref: SNOMEDCT_US_2015_03_01:3238004 +xref: UMLS_CUI:C0031046 +is_a: DOID:0050829 ! pericardium disease + +[Term] +id: DOID:1788 +name: peritoneal mesothelioma +alt_id: DOID:0050874 +alt_id: DOID:7954 +def: "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum." [url:http\://en.wikipedia.org/wiki/Mesothelioma] +subset: DO_cancer_slim +synonym: "Advanced malignant Mesothelioma of Peritoneum" EXACT [NCI2004_11_17:C8704] +synonym: "advanced malignant peritoneal mesothelioma" EXACT [] +synonym: "malignant mesothelioma of peritoneum" EXACT [SNOMEDCT_2005_07_31:187806007] +xref: ICD10CM:C45.1 +xref: NCI:C8704 +xref: NCI:C9350 +xref: SNOMEDCT_US_2015_03_01:109853004 +xref: SNOMEDCT_US_2015_03_01:187806007 +xref: UMLS_CUI:C0346109 +xref: UMLS_CUI:C0854886 +is_a: DOID:1725 ! peritoneum cancer +is_a: DOID:1790 ! malignant mesothelioma + +[Term] +id: DOID:1789 +name: benign peritoneal mesothelioma +synonym: "Mesothelioma of Peritoneum" EXACT [NCI2004_11_17:C7633] +xref: NCI:C7633 +xref: UMLS_CUI:C1377610 +is_a: DOID:0060117 ! peritoneal benign neoplasm + +[Term] +id: DOID:1790 +name: malignant mesothelioma +alt_id: DOID:4487 +alt_id: DOID:6965 +alt_id: DOID:7434 +def: "A cell type cancer that has_material_basis_in mesothelial tissue." [url:http\://cancergenome.nih.gov/cancersselected/Mesothelioma, url:http\://en.wikipedia.org/wiki/Mesothelioma, url:http\://www.cancer.gov/dictionary?CdrID=44323, url:http\://www.merriam-webster.com/medlineplus/mesothelioma] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "advanced malignant mesothelioma" EXACT [] +synonym: "asbestos-related malignant mesothelioma" EXACT [] +synonym: "Diffuse malignant Mesothelioma" EXACT [NCI2004_11_17:C8420] +synonym: "malignant tumor of Mesothelium" EXACT [NCI2004_11_17:C4456] +xref: MSH:C562839 +xref: NCI:C27926 +xref: NCI:C4456 +xref: NCI:C7865 +xref: NCI:C8420 +xref: OMIM:156240 +xref: SNOMEDCT_US_2015_03_01:62064005 +xref: UMLS_CUI:C0278752 +xref: UMLS_CUI:C0345967 +xref: UMLS_CUI:C0392400 +xref: UMLS_CUI:C1332338 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:1791 +name: peritoneal carcinoma +def: "A carcinoma that is located_in the inside of the abdomen." [url:http\://www.cancerhelp.org.uk/about-cancer/cancer-questions/primary-peritoneal-carcinoma] +synonym: "primary peritoneal carcinoma" EXACT [] +xref: NCI:C40022 +xref: UMLS_CUI:C1514428 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:1792 +name: pancreas lymphoma +synonym: "Lymphoma of pancreas" EXACT [NCI2004_11_17:C5714] +xref: NCI:C5714 +xref: UMLS_CUI:C1335307 +is_a: DOID:1793 ! pancreatic cancer + +[Term] +id: DOID:1793 +name: pancreatic cancer +alt_id: DOID:14356 +alt_id: DOID:1797 +alt_id: DOID:3588 +alt_id: DOID:9859 +def: "An endocrine gland cancer located_in the pancreas." [url:http\://en.wikipedia.org/wiki/Pancreatic] +comment: Xref MGI. +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "Ca body of pancreas" EXACT [SNOMEDCT_2005_07_31:154477005] +synonym: "Ca head of pancreas" EXACT [SNOMEDCT_2005_07_31:154476001] +synonym: "Ca tail of pancreas" EXACT [SNOMEDCT_2005_07_31:154478000] +synonym: "malignant neoplasm of body of pancreas" EXACT [] +synonym: "malignant neoplasm of head of pancreas" EXACT [] +synonym: "malignant neoplasm of tail of pancreas" EXACT [] +synonym: "pancreas neoplasm" EXACT [CSP2005:2014-4876] +synonym: "pancreatic neoplasm" EXACT [MTH:NOCODE] +synonym: "pancreatic tumor" EXACT [NCI2004_11_17:C3305] +xref: ICD10CM:C25.0 +xref: ICD10CM:C25.1 +xref: ICD10CM:C25.2 +xref: ICD9CM:157.0 +xref: ICD9CM:157.1 +xref: ICD9CM:157.2 +xref: ICD9CM:157.8 +xref: KEGG:05212 +xref: MSH:D010190 +xref: NCI:C3305 +xref: OMIM:606856 +xref: OMIM:613347 +xref: OMIM:613348 +xref: OMIM:614320 +xref: ORDO:1333 +xref: ORDO:217074 +xref: SNOMEDCT_US_2015_03_01:126859007 +xref: SNOMEDCT_US_2015_03_01:154476001 +xref: SNOMEDCT_US_2015_03_01:154477005 +xref: SNOMEDCT_US_2015_03_01:154478000 +xref: SNOMEDCT_US_2015_03_01:187791002 +xref: SNOMEDCT_US_2015_03_01:187792009 +xref: SNOMEDCT_US_2015_03_01:187796007 +xref: SNOMEDCT_US_2015_03_01:269553001 +xref: SNOMEDCT_US_2015_03_01:269554007 +xref: SNOMEDCT_US_2015_03_01:269555008 +xref: SNOMEDCT_US_2015_03_01:363419009 +xref: SNOMEDCT_US_2015_03_01:93715005 +xref: SNOMEDCT_US_2015_03_01:93823001 +xref: SNOMEDCT_US_2015_03_01:94082003 +xref: UMLS_CUI:C0030297 +xref: UMLS_CUI:C0153458 +xref: UMLS_CUI:C0153459 +xref: UMLS_CUI:C0153460 +xref: UMLS_CUI:C0153463 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:1795 +name: tumor of exocrine pancreas +alt_id: DOID:1794 +synonym: "malignant neoplasm of the Exocrine pancreas" EXACT [NCI2004_11_17:C7430] +synonym: "malignant tumor of exocrine pancreas" EXACT [] +synonym: "malignant tumor of exocrine pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:255088001] +synonym: "pancreatic Exocrine tumor" EXACT [NCI2004_11_17:C4445] +synonym: "tumor of exocrine pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:254604005] +xref: NCI:C4445 +xref: NCI:C7430 +xref: SNOMEDCT_US_2015_03_01:254604005 +xref: SNOMEDCT_US_2015_03_01:255088001 +xref: UMLS_CUI:C0345920 +xref: UMLS_CUI:C0346648 +is_a: DOID:1793 ! pancreatic cancer + +[Term] +id: DOID:1796 +name: pancreas sarcoma +def: "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20pancreas&c=pc&ss=] +synonym: "sarcoma of pancreas" EXACT [NCI2004_11_17:C5715] +xref: NCI:C5715 +xref: UMLS_CUI:C1096346 +is_a: DOID:1793 ! pancreatic cancer + +[Term] +id: DOID:1798 +name: pancreatic endocrine carcinoma +def: "An islet cell tumor that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "carcinoma of endocrine pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:254612002] +synonym: "Islet cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:60346004] +synonym: "malignant neoplasm of islets of Langerhans" EXACT [SNOMEDCT_2005_07_31:93843007] +synonym: "pancreatic neuroendocrine carcinoma" EXACT [NCI2004_11_17:C3770] +xref: ICD10CM:C25.4 +xref: ICD9CM:157.4 +xref: MSH:D018273 +xref: NCI:C3770 +xref: SNOMEDCT_US_2015_03_01:187794005 +xref: SNOMEDCT_US_2015_03_01:254612002 +xref: SNOMEDCT_US_2015_03_01:60346004 +xref: SNOMEDCT_US_2015_03_01:93843007 +xref: UMLS_CUI:C1328479 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:1799 +name: islet cell tumor +alt_id: DOID:10165 +def: "A pancreatic cancer that is located_in the pancreatic islet cells." [url:http\://en.wikipedia.org/wiki/Islets_of_Langerhans, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor] +synonym: "endocrine pancreas cancer" EXACT [] +synonym: "Islet cell neoplasm" EXACT [SNOMEDCT_2005_07_31:399528006] +synonym: "Islet cell tumor" EXACT [MTHICD9_2006:211.7] +synonym: "Islet cell tumour" EXACT [SNOMEDCT_2005_07_31:269636003] +synonym: "malignant pancreatic Endocrine tumor" EXACT [NCI2004_11_17:C3770] +synonym: "malignant tumor of endocrine pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:254611009] +synonym: "pancreatic Endocrine neoplasm" EXACT [NCI2004_11_17:C27031] +xref: ICD10CM:C25.4 +xref: ICD10CM:D13.7 +xref: MSH:D007516 +xref: NCI:C27031 +xref: SNOMEDCT_US_2015_03_01:126864006 +xref: SNOMEDCT_US_2015_03_01:128878003 +xref: SNOMEDCT_US_2015_03_01:154609001 +xref: SNOMEDCT_US_2015_03_01:188855000 +xref: SNOMEDCT_US_2015_03_01:237596009 +xref: SNOMEDCT_US_2015_03_01:254611009 +xref: SNOMEDCT_US_2015_03_01:261713004 +xref: SNOMEDCT_US_2015_03_01:269636003 +xref: SNOMEDCT_US_2015_03_01:399528006 +xref: SNOMEDCT_US_2015_03_01:76345009 +xref: UMLS_CUI:C0242363 +xref: UMLS_CUI:C0496784 +is_a: DOID:1793 ! pancreatic cancer + +[Term] +id: DOID:18 +name: urinary system disease +alt_id: DOID:579 +def: "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] +synonym: "Non-neoplastic urinary tract disease" EXACT [NCI2004_11_17:C27599] +synonym: "urinary tract disease" EXACT [] +xref: NCI:C27599 +xref: UMLS_CUI:C1335051 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:180 +name: ossifying fibroma +def: "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." [url:http\://en.wikipedia.org/wiki/Ossifying_fibroma] +synonym: "Fibro-osteoma (disorder)" EXACT [SNOMEDCT_2005_07_31:302862001] +synonym: "Ossifying fibroma (calcified structure)" EXACT [SNOMEDCT_2005_07_31:25603007] +synonym: "Ossifying fibroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189896007] +synonym: "peripheral ossifying fibroma" RELATED [] +xref: MSH:D018214 +xref: NCI:C8422 +xref: SNOMEDCT_US_2015_03_01:189896007 +xref: SNOMEDCT_US_2015_03_01:25603007 +xref: SNOMEDCT_US_2015_03_01:302862001 +xref: SNOMEDCT_US_2015_03_01:302863006 +xref: SNOMEDCT_US_2015_03_01:80699009 +xref: UMLS_CUI:C0206640 +is_a: DOID:0060094 ! bone benign neoplasm + +[Term] +id: DOID:1800 +name: neuroendocrine carcinoma +def: "A carcinoma that derives_from neuroendocrine cells." [url:http\://www.carcinomatype.com/what-is-neuroendocrine-carcinoma.html] +xref: MSH:D018278 +xref: NCI:C3773 +xref: SNOMEDCT_US_2015_03_01:253000007 +xref: SNOMEDCT_US_2015_03_01:55937004 +xref: UMLS_CUI:C0206695 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:1801 +name: secondary malignant neoplasm to the pancreas +synonym: "metastatic tumor to the pancreas" EXACT [NCI2004_11_17:C8543] +synonym: "secondary malignant neoplasm of pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:94459006] +is_obsolete: true + +[Term] +id: DOID:1802 +name: mononeuritis +synonym: "(Mononeuritis of unspecified site NOS) or (hereditary or idiopathic peripheral neuropathy)" EXACT [SNOMEDCT_2005_07_31:193155002] +xref: ICD9CM:355.9 +xref: MSH:D020422 +xref: SNOMEDCT_US_2015_03_01:193155002 +xref: SNOMEDCT_US_2015_03_01:267600005 +xref: SNOMEDCT_US_2015_03_01:32595002 +xref: UMLS_CUI:C0235880 +is_a: DOID:1188 ! mononeuropathy +is_a: DOID:1803 ! neuritis + +[Term] +id: DOID:1803 +name: neuritis +synonym: "peripheral neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:128192007] +xref: MSH:D009443 +xref: SNOMEDCT_US_2015_03_01:123254001 +xref: SNOMEDCT_US_2015_03_01:128192007 +xref: SNOMEDCT_US_2015_03_01:203116001 +xref: SNOMEDCT_US_2015_03_01:247378004 +xref: SNOMEDCT_US_2015_03_01:84299009 +xref: UMLS_CUI:C0027813 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:1804 +name: coxsackie pericarditis +def: "A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea." [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] +is_obsolete: true + +[Term] +id: DOID:1805 +name: coxsackie carditis +def: "An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions." [url:http\://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v=, url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] +synonym: "Enterovirus heart infection (disorder)" EXACT [SNOMEDCT_2005_07_31:46397005] +is_obsolete: true + +[Term] +id: DOID:1806 +name: coxsackie endocarditis +def: "A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions." [url:http\://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false] +is_obsolete: true + +[Term] +id: DOID:1811 +name: reflex sympathetic dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:G90.5 +xref: ICD10CM:M89.0 +xref: ICD9CM:337.2 +xref: ICD9CM:337.20 +xref: ICD9CM:337.21 +xref: MSH:D012019 +xref: NCI:C85042 +xref: OMIM:604335 +xref: SNOMEDCT_US_2015_03_01:128079007 +xref: SNOMEDCT_US_2015_03_01:156849009 +xref: SNOMEDCT_US_2015_03_01:15743005 +xref: SNOMEDCT_US_2015_03_01:192921009 +xref: SNOMEDCT_US_2015_03_01:203490000 +xref: SNOMEDCT_US_2015_03_01:203492008 +xref: SNOMEDCT_US_2015_03_01:2103002 +xref: SNOMEDCT_US_2015_03_01:393605009 +xref: SNOMEDCT_US_2015_03_01:403604006 +xref: SNOMEDCT_US_2015_03_01:50642008 +xref: UMLS_CUI:C0034931 +is_a: DOID:3223 ! complex regional pain syndrome + +[Term] +id: DOID:182 +name: calcinosis +def: "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue." [url:http\://en.wikipedia.org/wiki/Calcinosis] +synonym: "Calcinosis (disorder)" EXACT [SNOMEDCT_2005_07_31:6595006] +synonym: "pathologic calcification" EXACT [CSP2005:0531-6043] +synonym: "pathologic calcification" EXACT [CSP2005:0531-6510] +synonym: "Pathologically calcified structure" EXACT [SNOMEDCT_2005_07_31:18115005] +xref: MSH:D002114 +xref: SNOMEDCT_US_2015_03_01:18115005 +xref: SNOMEDCT_US_2015_03_01:190863003 +xref: SNOMEDCT_US_2015_03_01:237881004 +xref: SNOMEDCT_US_2015_03_01:6595006 +xref: UMLS_CUI:C0006663 +is_a: DOID:10575 ! calcium metabolism disease + +[Term] +id: DOID:1822 +name: secondary lacrimal atrophy +synonym: "secondary lacrimal atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:75068001] +xref: ICD10CM:H04.15 +xref: ICD9CM:375.14 +xref: SNOMEDCT_US_2015_03_01:193979004 +xref: SNOMEDCT_US_2015_03_01:75068001 +xref: UMLS_CUI:C0339121 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:1823 +name: petit mal status +synonym: "Epileptic absence status" EXACT [MTHICD9_2006:345.2] +synonym: "Epileptic twilight state" EXACT [MTHICD9_2006:293.0] +synonym: "Petit mal status (disorder)" EXACT [SNOMEDCT_2005_07_31:7033004] +synonym: "Petit mal status, epileptic" EXACT [ICD9CM_2006:345.2] +is_obsolete: true + +[Term] +id: DOID:1824 +name: status epilepticus +synonym: "(Grand mal status) or (status epilepticus)" EXACT [SNOMEDCT_2005_07_31:192998006] +xref: MSH:D013226 +xref: NCI:C85079 +xref: SNOMEDCT_US_2015_03_01:13973009 +xref: SNOMEDCT_US_2015_03_01:155039002 +xref: SNOMEDCT_US_2015_03_01:192998006 +xref: SNOMEDCT_US_2015_03_01:193019007 +xref: SNOMEDCT_US_2015_03_01:194499008 +xref: SNOMEDCT_US_2015_03_01:230456007 +xref: UMLS_CUI:C0038220 +is_a: DOID:1826 ! epilepsy syndrome + +[Term] +id: DOID:1825 +name: childhood absence epilepsy +def: "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years." [url:http\://en.wikipedia.org/wiki/Childhood_absence_epilepsy] +synonym: "absence seizure" RELATED [SNOMEDCT_2005_07_31:140805008] +synonym: "petit mal seizure" EXACT [CSP2005:0485-7316] +synonym: "pyknolepsy" EXACT [] +xref: ICD10CM:G40.A +xref: MSH:D004832 +xref: NCI:C3023 +xref: NCI:C50436 +xref: SNOMEDCT_US_2015_03_01:140805008 +xref: SNOMEDCT_US_2015_03_01:155037000 +xref: SNOMEDCT_US_2015_03_01:163596002 +xref: SNOMEDCT_US_2015_03_01:16757004 +xref: SNOMEDCT_US_2015_03_01:192980007 +xref: SNOMEDCT_US_2015_03_01:192983009 +xref: SNOMEDCT_US_2015_03_01:230413002 +xref: SNOMEDCT_US_2015_03_01:50866000 +xref: SNOMEDCT_US_2015_03_01:79631006 +xref: UMLS_CUI:C0014553 +is_a: DOID:0050704 ! childhood electroclinical syndrome + +[Term] +id: DOID:1826 +name: epilepsy syndrome +def: "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." [url:http\://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false, url:http\://www.merriam-webster.com/medlineplus/epilepsy] +synonym: "epilepsy" EXACT [] +synonym: "epileptic syndrome" EXACT [] +xref: EFO:0000474 +xref: ICD10CM:G40.9 +xref: ICD10CM:G40.909 +xref: ICD9CM:345.9 +xref: MSH:D004827 +xref: NCI:C3020 +xref: SNOMEDCT_US_2015_03_01:128613002 +xref: SNOMEDCT_US_2015_03_01:155036009 +xref: SNOMEDCT_US_2015_03_01:155045005 +xref: SNOMEDCT_US_2015_03_01:193026007 +xref: SNOMEDCT_US_2015_03_01:246545002 +xref: SNOMEDCT_US_2015_03_01:267593008 +xref: SNOMEDCT_US_2015_03_01:267698007 +xref: SNOMEDCT_US_2015_03_01:271788002 +xref: SNOMEDCT_US_2015_03_01:313307000 +xref: SNOMEDCT_US_2015_03_01:84757009 +xref: UMLS_CUI:C0014544 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:1827 +name: idiopathic generalized epilepsy +def: "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain." [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Generalized_epilepsy] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Generalised epilepsy" EXACT [SNOMEDCT_2005_07_31:192994008] +xref: MSH:D004829 +xref: NCI:C3021 +xref: OMIM:600669 +xref: OMIM:604827 +xref: OMIM:606972 +xref: OMIM:607628 +xref: OMIM:607682 +xref: OMIM:608762 +xref: OMIM:609750 +xref: OMIM:611136 +xref: OMIM:611934 +xref: OMIM:612899 +xref: OMIM:613060 +xref: OMIM:614847 +xref: SNOMEDCT_US_2015_03_01:155038005 +xref: SNOMEDCT_US_2015_03_01:155043003 +xref: SNOMEDCT_US_2015_03_01:192989008 +xref: SNOMEDCT_US_2015_03_01:192994008 +xref: SNOMEDCT_US_2015_03_01:19598007 +xref: UMLS_CUI:C0014548 +is_a: DOID:1826 ! epilepsy syndrome + +[Term] +id: DOID:1829 +name: urethral stricture +xref: ICD9CM:598.8 +xref: UMLS_CUI:C0029752 +is_a: DOID:12577 ! urethral obstruction + +[Term] +id: DOID:1832 +name: Mild hyperemesis gravidarum +alt_id: DOID:13012 +alt_id: DOID:1831 +synonym: "Mild hyperemesis gravidarum, antepartum" EXACT [] +synonym: "Mild hyperemesis gravidarum, delivered" EXACT [] +is_obsolete: true + +[Term] +id: DOID:1835 +name: mononeuritis multiplex +synonym: "Mononeuritis multiplex" EXACT [ICD9CM_2006:354.5] +synonym: "Mononeuritis multiplex (disorder)" EXACT [SNOMEDCT_2005_07_31:30292005] +xref: ICD10CM:G58.7 +xref: ICD9CM:354.5 +xref: MSH:D020422 +xref: NCI:C70938 +xref: SNOMEDCT_US_2015_03_01:30292005 +xref: UMLS_CUI:C0151295 +is_a: DOID:1802 ! mononeuritis +is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex + +[Term] +id: DOID:1837 +name: diabetic ketoacidosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "DIABETES MELLITUS, KETOSIS-PRONE" EXACT [] +synonym: "ketosis-prone diabetes mellitus" EXACT [] +xref: ICD9CM:250.1 +xref: MSH:D016883 +xref: NCI:C50530 +xref: OMIM:612227 +xref: SNOMEDCT_US_2015_03_01:154671004 +xref: SNOMEDCT_US_2015_03_01:190328004 +xref: SNOMEDCT_US_2015_03_01:24927004 +xref: SNOMEDCT_US_2015_03_01:267467004 +xref: SNOMEDCT_US_2015_03_01:420422005 +xref: UMLS_CUI:C0011880 +is_a: DOID:9352 ! type 2 diabetes mellitus + +[Term] +id: DOID:1838 +name: Menkes disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "COPPER TRANSPORT DISEASE" EXACT [] +synonym: "Menkes kinky-hair syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:59178007] +synonym: "steely hair syndrome" EXACT [CSP2005:1849-5365] +xref: MSH:D007706 +xref: NCI:C75486 +xref: OMIM:309400 +xref: SNOMEDCT_US_2015_03_01:59178007 +xref: UMLS_CUI:C0022716 +is_a: DOID:421 ! hair disease +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:184 +name: bone cancer +alt_id: DOID:3348 +def: "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue." [url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone, url:http\://www.cancer.gov/cancertopics/types/bone, url:http\://www.wrongdiagnosis.com/b/bone_cancer/intro.htm] +subset: TopNodes_DOcancerslim +synonym: "bone neoplasm" EXACT [CSP2005:2019-1041] +synonym: "bone tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115239009] +synonym: "bone tumour" EXACT [SNOMEDCT_2005_07_31:240201007] +synonym: "CA - bone cancer" EXACT [SNOMEDCT_2005_07_31:269466003] +synonym: "malignant bone neoplasm" EXACT [] +synonym: "malignant bone tumour" EXACT [SNOMEDCT_2005_07_31:363371002] +synonym: "malignant neoplasm of bone, NOS" EXACT [SNOMEDCT_2005_07_31:93725000] +synonym: "malignant osseous tumor" EXACT [NCI2004_11_17:C4016] +synonym: "neoplasm of bone (disorder)" EXACT [SNOMEDCT_2005_07_31:126537000] +synonym: "osseous tumor" EXACT [NCI2004_11_17:C9343] +xref: CSP:2019-1041 +xref: MSH:D001859 +xref: NCI:C9343 +xref: SNOMEDCT_US_2015_03_01:115239009 +xref: SNOMEDCT_US_2015_03_01:126537000 +xref: SNOMEDCT_US_2015_03_01:240201007 +xref: UMLS_CUI:C0005967 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:1844 +name: mononeuritis of upper limb +synonym: "Mononeuritis of upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:58850003] +synonym: "Mononeuritis of upper limb, unspecified" EXACT [ICD9CM_2006:354.9] +synonym: "Mononeuritis upper limb NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193143008] +xref: ICD9CM:354.9 +xref: SNOMEDCT_US_2015_03_01:193143008 +xref: SNOMEDCT_US_2015_03_01:58850003 +xref: UMLS_CUI:C0154746 +is_a: DOID:1802 ! mononeuritis +is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex + +[Term] +id: DOID:1845 +name: Strongylida infectious disease +def: "A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." [url:http\://en.wikipedia.org/wiki/Strongylida] +is_obsolete: true + +[Term] +id: DOID:1849 +name: cannabis dependence +def: "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Cannabis_dependence] +xref: ICD10CM:F12.2 +xref: ICD9CM:304.3 +xref: MSH:D002189 +xref: NCI:C34445 +xref: SNOMEDCT_US_2015_03_01:191835009 +xref: SNOMEDCT_US_2015_03_01:191836005 +xref: SNOMEDCT_US_2015_03_01:268766005 +xref: SNOMEDCT_US_2015_03_01:85005007 +xref: UMLS_CUI:C0006870 +is_a: DOID:9977 ! hallucinogen dependence + +[Term] +id: DOID:1852 +name: intrahepatic cholestasis +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "intrahepatic cholestasis of pregnancy" EXACT [] +xref: MSH:D002780 +xref: NCI:C84400 +xref: OMIM:147480 +xref: OMIM:211600 +xref: OMIM:243300 +xref: OMIM:601847 +xref: OMIM:602347 +xref: OMIM:605479 +xref: OMIM:614972 +xref: OMIM:615878 +xref: ORDO:172 +xref: ORDO:65682 +xref: ORDO:69665 +xref: SNOMEDCT_US_2015_03_01:4637005 +xref: UMLS_CUI:C0008372 +is_a: DOID:13580 ! cholestasis +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:1856 +name: cherubism +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:M27.8 +xref: MSH:D002636 +xref: NCI:C84630 +xref: OMIM:118400 +xref: SNOMEDCT_US_2015_03_01:53432004 +xref: SNOMEDCT_US_2015_03_01:76098004 +xref: UMLS_CUI:C0008029 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:1858 +name: McCune Albright syndrome +alt_id: DOID:11345 +def: "An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene." [url:http\://emedicine.medscape.com/article/923026-overview, url:http\://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome, url:http\://ghr.nlm.nih.gov/condition/mccune-albright-syndrome, url:http\://www.nichd.nih.gov/health/topics/mccune_albright_syndrome.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001217.htm, url:http\://www.umm.edu/ency/article/001217.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "fibrous Dysplasia of bone" EXACT [NCI2004_11_17:C34609] +synonym: "fibrous dysplasia of bone (disorder)" EXACT [SNOMEDCT_2005_07_31:10623005] +synonym: "osteitis fibrosa disseminata" EXACT [] +synonym: "polyostotic fibrous dysplasia" EXACT [] +xref: ICD10CM:Q78.1 +xref: ICD9CM:756.54 +xref: MSH:D005357 +xref: MSH:D005359 +xref: NCI:C34610 +xref: OMIM:174800 +xref: SNOMEDCT_US_2015_03_01:10623005 +xref: SNOMEDCT_US_2015_03_01:205508003 +xref: SNOMEDCT_US_2015_03_01:36517007 +xref: UMLS_CUI:C0016063 +xref: UMLS_CUI:C0016065 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:1862 +name: jaw cancer +def: "A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone." [url:http\://www.buzzle.com/articles/jaw-cancer-symptoms.html] +synonym: "jaw neoplasm" RELATED [] +synonym: "neoplasm of jaw (disorder)" EXACT [SNOMEDCT_2005_07_31:126634001] +xref: MSH:D007573 +xref: SNOMEDCT_US_2015_03_01:126634001 +xref: UMLS_CUI:C0022364 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:1863 +name: skull cancer +xref: MSH:D012888 +xref: NCI:C3375 +xref: SNOMEDCT_US_2015_03_01:126538005 +xref: UMLS_CUI:C0037305 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:1866 +name: giant cell reparative granuloma +synonym: "central giant cell (reparative) granuloma" EXACT [ICD9CM_2006:526.3] +synonym: "central giant cell granuloma" EXACT [MTHICD9_2006:526.3] +synonym: "central giant cell reparative granuloma of jaw (disorder)" EXACT [SNOMEDCT_2005_07_31:15350006] +xref: ICD10CM:M27.1 +xref: ICD9CM:526.3 +xref: MSH:D006101 +xref: SNOMEDCT_US_2015_03_01:15350006 +xref: UMLS_CUI:C0162375 +is_a: DOID:4305 ! bone giant cell tumor + +[Term] +id: DOID:1869 +name: chronic rheumatic pericarditis +synonym: "chronic rheumatic pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:78069008] +synonym: "chronic rheumatic pericarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194723003] +xref: ICD10CM:I09.2 +xref: ICD9CM:393 +xref: SNOMEDCT_US_2015_03_01:155287003 +xref: SNOMEDCT_US_2015_03_01:194719006 +xref: SNOMEDCT_US_2015_03_01:194723003 +xref: SNOMEDCT_US_2015_03_01:78069008 +xref: UMLS_CUI:C0155561 +is_a: DOID:1787 ! pericarditis + +[Term] +id: DOID:1873 +name: abortion complicated by metabolic disorder +is_obsolete: true + +[Term] +id: DOID:1875 +name: impotence +synonym: "erectile dysfunction" EXACT [] +synonym: "Sexual impotence (finding)" EXACT [SNOMEDCT_2005_07_31:23781003] +xref: EFO:0004234 +is_a: DOID:1876 ! sexual dysfunction + +[Term] +id: DOID:1876 +name: sexual dysfunction +synonym: "abnormal sexual function (finding)" EXACT [SNOMEDCT_2005_07_31:56925008] +xref: ICD10CM:F52.9 +xref: ICD10CM:R37 +xref: NCI:C3347 +xref: SNOMEDCT_US_2015_03_01:225723003 +xref: SNOMEDCT_US_2015_03_01:231532002 +xref: SNOMEDCT_US_2015_03_01:39894007 +xref: SNOMEDCT_US_2015_03_01:56925008 +xref: SNOMEDCT_US_2015_03_01:65655009 +xref: UMLS_CUI:C0549622 +is_a: DOID:0060043 ! sexual disorder + +[Term] +id: DOID:1882 +name: atrial heart septal defect +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "atrial septal defect" EXACT [] +synonym: "atrioseptal defect" EXACT [CSP2005:0725-0467] +synonym: "auricular septal defect" EXACT [] +synonym: "congenital atrial septal defect" EXACT [] +synonym: "interatrial septal defect" EXACT [] +synonym: "interauricular septal defect" EXACT [] +xref: ICD10CM:Q21.1 +xref: MSH:D006344 +xref: NCI:C84473 +xref: OMIM:108800 +xref: OMIM:108900 +xref: OMIM:607941 +xref: OMIM:611363 +xref: OMIM:612794 +xref: OMIM:613087 +xref: OMIM:614089 +xref: OMIM:614433 +xref: OMIM:614475 +xref: ORDO:1478 +xref: SNOMEDCT_US_2015_03_01:156915002 +xref: SNOMEDCT_US_2015_03_01:204316004 +xref: SNOMEDCT_US_2015_03_01:253366007 +xref: SNOMEDCT_US_2015_03_01:253368008 +xref: SNOMEDCT_US_2015_03_01:268178001 +xref: SNOMEDCT_US_2015_03_01:405752007 +xref: SNOMEDCT_US_2015_03_01:69524004 +xref: SNOMEDCT_US_2015_03_01:70142008 +xref: UMLS_CUI:C0018817 +is_a: DOID:1681 ! heart septal defect + +[Term] +id: DOID:1883 +name: hepatitis C +alt_id: DOID:12430 +alt_id: DOID:12432 +alt_id: DOID:2049 +def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HCV/index.htm, url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] +synonym: "chronic hepatitis C" EXACT [] +synonym: "hepatitis C infection" EXACT [] +synonym: "hepatitis nonA nonB" EXACT [CSP2005:4000-0219] +synonym: "NANBH" EXACT [NCI2004_11_17:C3098] +synonym: "Viral hepatitis C" EXACT [] +xref: EFO:0003047 +xref: ICD10CM:B19.2 +xref: ICD10CM:B19.20 +xref: ICD9CM:070.7 +xref: MSH:D006526 +xref: NCI:C3098 +xref: SNOMEDCT_US_2015_03_01:123324009 +xref: SNOMEDCT_US_2015_03_01:154349000 +xref: SNOMEDCT_US_2015_03_01:186634008 +xref: SNOMEDCT_US_2015_03_01:186643004 +xref: SNOMEDCT_US_2015_03_01:50711007 +xref: UMLS_CUI:C0019196 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:1884 +name: viral hepatitis +alt_id: DOID:12548 +alt_id: DOID:1331 +alt_id: DOID:1885 +def: "A hepatitis that involves viral infection causing inflammation of the liver." [url:http\://www.cdc.gov/HEPATITIS/] +synonym: "animal viral hepatitis" EXACT [CSP2005:1754-7196] +synonym: "human viral hepatitis" EXACT [] +synonym: "Unspecified viral hepatitis with hepatic coma" EXACT [ICD9CM_2006:070.6] +synonym: "viral hepatitis with hepatic coma" EXACT [] +synonym: "Viral hepatitis with hepatic coma (disorder)" EXACT [SNOMEDCT_2005_07_31:40946000] +xref: MSH:D006524 +xref: UMLS_CUI:C0019194 +is_a: DOID:2237 ! hepatitis + +[Term] +id: DOID:1886 +name: Flaviviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." [url:http\://en.wikipedia.org/wiki/Flaviviridae] +is_obsolete: true + +[Term] +id: DOID:1891 +name: optic nerve disease +def: "A cranial nerve disease that is located_in the optic nerve." [url:http\://www.academy.org.uk/lectures/barnard3.htm, url:http\://www.nature.com/eye/journal/v18/n11/full/6701575a.html] +synonym: "disorder of optic nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:77157004] +synonym: "disorder of the second nerve" EXACT [SNOMEDCT_2005_07_31:194037001] +synonym: "optic nerve disorder" EXACT [SNOMEDCT_2005_07_31:267741008] +synonym: "optic nerve disorder" EXACT [CSP2005:2042-6601] +synonym: "optic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:312964007] +xref: MSH:D009901 +xref: NCI:C79698 +xref: SNOMEDCT_US_2015_03_01:194037001 +xref: SNOMEDCT_US_2015_03_01:267741008 +xref: SNOMEDCT_US_2015_03_01:312964007 +xref: SNOMEDCT_US_2015_03_01:77157004 +xref: SNOMEDCT_US_2015_03_01:82108004 +xref: UMLS_CUI:C0029132 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:1893 +name: eczematous dermatitis of eyelid +synonym: "Eczematous dermatitis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:36259009] +xref: ICD10CM:H01.13 +xref: ICD9CM:373.31 +xref: SNOMEDCT_US_2015_03_01:36259009 +xref: UMLS_CUI:C0155177 +is_a: DOID:1894 ! noninfectious dermatoses of eyelid + +[Term] +id: DOID:1894 +name: noninfectious dermatoses of eyelid +synonym: "Non-infected eyelid dermatoses NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193919009] +synonym: "Noninfectious dermatosis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:111524003] +xref: ICD10CM:H01.1 +xref: ICD9CM:373.3 +xref: SNOMEDCT_US_2015_03_01:111524003 +xref: SNOMEDCT_US_2015_03_01:193919009 +xref: UMLS_CUI:C0155176 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:1895 +name: allergic contact dermatitis of eyelid +synonym: "Allergic contact dermatitis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:402249007] +synonym: "Contact and allergic dermatitis of eyelid" EXACT [ICD9CM_2006:373.32] +xref: ICD9CM:373.32 +xref: SNOMEDCT_US_2015_03_01:402249007 +xref: UMLS_CUI:C0155178 +is_a: DOID:1894 ! noninfectious dermatoses of eyelid + +[Term] +id: DOID:1896 +name: sigmoid neoplasm +synonym: "neoplasm of sigmoid colon (disorder)" EXACT [SNOMEDCT_2005_07_31:126845000] +synonym: "tumor of sigmoid colon (disorder)" EXACT [SNOMEDCT_2005_07_31:254581007] +xref: MSH:D012811 +xref: SNOMEDCT_US_2015_03_01:126845000 +xref: SNOMEDCT_US_2015_03_01:254581007 +xref: UMLS_CUI:C0037073 +is_a: DOID:235 ! colonic benign neoplasm + +[Term] +id: DOID:1897 +name: sigmoid disease +xref: MSH:D012810 +xref: UMLS_CUI:C0037072 +is_a: DOID:5353 ! colonic disease + +[Term] +id: DOID:1901 +name: vagina sarcoma +synonym: "sarcoma of the vagina" EXACT [NCI2004_11_17:C7737] +xref: NCI:C7737 +xref: UMLS_CUI:C0238519 +is_a: DOID:119 ! vaginal cancer + +[Term] +id: DOID:1906 +name: malignant skin fibrous histiocytoma +synonym: "malignant fibrous histiocytoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:404014008] +synonym: "vaginal melanoma" EXACT [NCI2004_11_17:C27394] +synonym: "vaginal melanoma" EXACT [NCI2004_11_17:C5576] +xref: NCI:C5576 +xref: SNOMEDCT_US_2015_03_01:404014008 +xref: UMLS_CUI:C1275254 +is_a: DOID:5274 ! malignant dermis tumor + +[Term] +id: DOID:1907 +name: malignant fibroxanthoma +synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:34360000] +synonym: "Fibroxanthosarcoma" EXACT [SNOMEDCT_2005_07_31:189772005] +synonym: "Fibroxanthosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253040001] +synonym: "MFH" EXACT [NCI2004_11_17:C4247] +xref: MSH:D051677 +xref: NCI:C4247 +xref: SNOMEDCT_US_2015_03_01:189772005 +xref: SNOMEDCT_US_2015_03_01:253040001 +xref: SNOMEDCT_US_2015_03_01:34360000 +xref: SNOMEDCT_US_2015_03_01:443439001 +xref: UMLS_CUI:C0334463 +is_a: DOID:4231 ! histiocytoma + +[Term] +id: DOID:1908 +name: cutaneous fibrohistiocytic neoplasm +is_obsolete: true + +[Term] +id: DOID:1909 +name: melanoma +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye." [PMID:22123420, url:http\://en.wikipedia.org/wiki/Melanoma] +subset: TopNodes_DOcancerslim +synonym: "malignant melanoma" EXACT [SNOMEDCT_2005_07_31:269577007] +synonym: "Naevocarcinoma" EXACT [SNOMEDCT_2005_07_31:189749008] +xref: EFO:0000756 +xref: KEGG:05218 +xref: MSH:D008545 +xref: NCI:C3224 +xref: OMIM:155600 +xref: SNOMEDCT_US_2015_03_01:154501005 +xref: SNOMEDCT_US_2015_03_01:189749008 +xref: SNOMEDCT_US_2015_03_01:2092003 +xref: SNOMEDCT_US_2015_03_01:269503007 +xref: SNOMEDCT_US_2015_03_01:269577007 +xref: SNOMEDCT_US_2015_03_01:372244006 +xref: UMLS_CUI:C0025202 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:1910 +name: vaginal yolk sac tumor +synonym: "vaginal endodermal sinus neoplasm" EXACT [] +synonym: "vaginal Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6379] +xref: NCI:C6379 +xref: UMLS_CUI:C1336945 +is_a: DOID:119 ! vaginal cancer + +[Term] +id: DOID:1911 +name: endodermal sinus tumor +def: "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor, url:http\://en.wikipedia.org/wiki/Germ_cell_tumor, url:http\://www.cincinnatichildrens.org/health/y/yolk-sac/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876] +synonym: "Hepatoid yolk sac tumour" EXACT [SNOMEDCT_2005_07_31:74409009] +synonym: "infantile embryonal carcinoma" EXACT [] +synonym: "Yolk Sac neoplasm" EXACT [NCI2004_11_17:C3011] +synonym: "Yolk sac tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404081005] +xref: MSH:D018240 +xref: NCI:C3011 +xref: SNOMEDCT_US_2015_03_01:404081005 +xref: SNOMEDCT_US_2015_03_01:74409009 +xref: UMLS_CUI:C0014145 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:1912 +name: metastasis to vagina +synonym: "secondary malignant neoplasm of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:94668004] +synonym: "secondary tumor to the vagina" EXACT [NCI2004_11_17:C6333] +is_obsolete: true + +[Term] +id: DOID:1913 +name: alternating exotropia with A pattern +synonym: "Alternating exotropia with A pattern (disorder)" EXACT [SNOMEDCT_2005_07_31:31254003] +is_obsolete: true + +[Term] +id: DOID:1919 +name: Lesch-Nyhan syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [SNOMEDCT_2005_07_31:190921003] +synonym: "deficiency of IMP pyrophosphorylase" EXACT [SNOMEDCT_2005_07_31:124275001] +synonym: "HG-PRT deficiency" EXACT [MTHICD9_2006:277.2] +synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" EXACT [CSP2005:1849-8105] +synonym: "Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:267451005] +synonym: "Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:90924007] +synonym: "Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" EXACT [SNOMEDCT_2005_07_31:190918000] +synonym: "Lesch - Nyhan syndrome" EXACT [SNOMEDCT_2005_07_31:190917005] +synonym: "Lesch-Nyhan syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:10406007] +synonym: "X-linked hyperuricemia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:68655008] +xref: ICD10CM:E79.1 +xref: MSH:D007926 +xref: NCI:C61255 +xref: OMIM:300322 +xref: SNOMEDCT_US_2015_03_01:10406007 +xref: SNOMEDCT_US_2015_03_01:124275001 +xref: SNOMEDCT_US_2015_03_01:190917005 +xref: SNOMEDCT_US_2015_03_01:190918000 +xref: SNOMEDCT_US_2015_03_01:190921003 +xref: SNOMEDCT_US_2015_03_01:267451005 +xref: SNOMEDCT_US_2015_03_01:68655008 +xref: SNOMEDCT_US_2015_03_01:90924007 +xref: UMLS_CUI:C0023374 +is_a: DOID:653 ! purine-pyrimidine metabolic disorder + +[Term] +id: DOID:192 +name: sex cord-gonadal stromal tumor +alt_id: DOID:12293 +def: "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis." [url:http\://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour] +synonym: "malignant testicular sex cord-stromal tumor" EXACT [] +synonym: "Sex cord stromal tumour" EXACT [SNOMEDCT_2005_07_31:253028001] +synonym: "Sex Cord-Stromal neoplasm" EXACT [NCI2004_11_17:C3794] +synonym: "Sex Cord-Stromal tumor" EXACT [MTH:NOCODE] +synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:71440001] +synonym: "Specialized gonadal neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115221000] +synonym: "Specialized gonadal neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189724009] +synonym: "Specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189741006] +synonym: "Specialized gonadal tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134323003] +xref: MSH:D018312 +xref: NCI:C3794 +xref: NCI:C39948 +xref: SNOMEDCT_US_2015_03_01:115221000 +xref: SNOMEDCT_US_2015_03_01:134323003 +xref: SNOMEDCT_US_2015_03_01:189724009 +xref: SNOMEDCT_US_2015_03_01:189741006 +xref: SNOMEDCT_US_2015_03_01:253028001 +xref: SNOMEDCT_US_2015_03_01:71440001 +xref: UMLS_CUI:C0206724 +xref: UMLS_CUI:C1515289 +is_a: DOID:193 ! reproductive organ cancer + +[Term] +id: DOID:1920 +name: hyperuricemia +def: "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood." [url:http\://en.wikipedia.org/wiki/Hyperuricemia] +synonym: "(Blood urate raized) or (hyperuricemia)" EXACT [SNOMEDCT_2005_07_31:166733000] +synonym: "uricacidemia" EXACT [CSP2005:1849-8097] +xref: MSH:D033461 +xref: NCI:C3961 +xref: SNOMEDCT_US_2015_03_01:144021008 +xref: SNOMEDCT_US_2015_03_01:166733000 +xref: SNOMEDCT_US_2015_03_01:237857006 +xref: SNOMEDCT_US_2015_03_01:271198001 +xref: SNOMEDCT_US_2015_03_01:35885006 +xref: UMLS_CUI:C0740394 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:1921 +name: Klinefelter's syndrome +comment: No OMIM mapping, confirmed by DO. [LS]. +synonym: "Hypogonadotropic Hypogonadism" EXACT [NCI2004_11_17:C34752] +synonym: "Klinefelter syndrome" EXACT [] +synonym: "XXY syndrome" EXACT [MTHICD9_2006:758.7] +synonym: "XXY trisomy" EXACT [CSP2005:1254-8437] +xref: ICD10CM:Q98.0 +xref: ICD10CM:Q98.4 +xref: ICD9CM:758.7 +xref: MSH:D007713 +xref: NCI:C34752 +xref: SNOMEDCT_US_2015_03_01:157021007 +xref: SNOMEDCT_US_2015_03_01:205696000 +xref: SNOMEDCT_US_2015_03_01:205701007 +xref: SNOMEDCT_US_2015_03_01:205712007 +xref: SNOMEDCT_US_2015_03_01:22053006 +xref: SNOMEDCT_US_2015_03_01:268357008 +xref: SNOMEDCT_US_2015_03_01:405769009 +xref: SNOMEDCT_US_2015_03_01:405770005 +xref: UMLS_CUI:C0022735 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:1922 +name: endocrine syndrome +is_obsolete: true + +[Term] +id: DOID:1923 +name: sex differentiation disease +synonym: "disorder of sexual differentiation (disorder)" EXACT [SNOMEDCT_2005_07_31:39179006] +synonym: "sex differentiation disorder" EXACT [CSP2005:2586-8784] +xref: MSH:D012734 +xref: UMLS_CUI:C0036875 +is_a: DOID:2277 ! gonadal disease + +[Term] +id: DOID:1924 +name: hypogonadism +def: "A gonadal disease that is characterized by diminished functional activity of the gonads." [url:http\://en.wikipedia.org/wiki/Hypogonadism] +xref: MSH:D007006 +xref: NCI:C9227 +xref: OMIM:146110 +xref: SNOMEDCT_US_2015_03_01:48130008 +xref: UMLS_CUI:C0020619 +is_a: DOID:2277 ! gonadal disease + +[Term] +id: DOID:1925 +name: Coffin-Siris syndrome +def: "A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability." [url:http\://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, url:http\://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dwarfism-Onychodysplasia" EXACT [] +synonym: "Fifth Digit Syndrome" EXACT [] +synonym: "Short Stature-Onychodysplasia." EXACT [] +xref: MSH:C536436 +xref: NCI:C35321 +xref: OMIM:135900 +xref: SNOMEDCT_US_2015_03_01:10007009 +xref: UMLS_CUI:C0265338 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:1926 +name: Gaucher's disease +def: "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver." [url:http\://en.wikipedia.org/wiki/Gaucher%27s_disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "acid beta-glucosidase deficiency" EXACT [] +synonym: "Gaucher disease" EXACT [] +synonym: "glocucerebrosidase deficiency" EXACT [] +synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [] +synonym: "kerasin thesaurismosis" EXACT [] +synonym: "lipoid histiocytosis (kerasin type)" EXACT [CSP2005:1849-8920] +xref: ICD10CM:E75.22 +xref: MSH:D005776 +xref: NCI:C61268 +xref: OMIM:230800 +xref: OMIM:230900 +xref: OMIM:231000 +xref: OMIM:608013 +xref: OMIM:610539 +xref: ORDO:355 +xref: SNOMEDCT_US_2015_03_01:180485001 +xref: SNOMEDCT_US_2015_03_01:190794006 +xref: SNOMEDCT_US_2015_03_01:2859005 +xref: SNOMEDCT_US_2015_03_01:62201009 +xref: UMLS_CUI:C0017205 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:1927 +name: sphingolipidosis +synonym: "sphingolipidoses" EXACT [] +synonym: "Sphingolipidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238028008] +synonym: "Sphingolipidosis, NOS" EXACT [SNOMEDCT_2005_07_31:58459009] +xref: ICD10CM:E75.3 +xref: MSH:D013106 +xref: SNOMEDCT_US_2015_03_01:238028008 +xref: SNOMEDCT_US_2015_03_01:58459009 +xref: UMLS_CUI:C0037899 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:1928 +name: Williams-Beuren syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Fanconi Schlesinger syndrome" EXACT [CSP2005:4006-0100] +xref: MSH:D018980 +xref: NCI:C85232 +xref: OMIM:194050 +xref: SNOMEDCT_US_2015_03_01:63247009 +xref: UMLS_CUI:C0175702 +is_a: DOID:0060388 ! chromosomal deletion syndrome + +[Term] +id: DOID:1929 +name: supravalvular aortic stenosis +synonym: "Supra-valvular aortic stenosis" EXACT [SNOMEDCT_2005_07_31:204436002] +synonym: "Supra-valvular aortic stenosis" EXACT [MTHICD9_2006:747.22] +synonym: "Supravalvar aortic stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:268185002] +xref: ICD10CM:Q25.3 +xref: MSH:D021921 +xref: NCI:C85176 +xref: OMIM:185500 +xref: OMIM:194050 +xref: SNOMEDCT_US_2015_03_01:204436002 +xref: SNOMEDCT_US_2015_03_01:268185002 +xref: UMLS_CUI:C0003499 +is_a: DOID:1712 ! aortic valve stenosis + +[Term] +id: DOID:193 +name: reproductive organ cancer +alt_id: DOID:1900 +def: "An organ system cancer that is manifested in the reproductive organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers] +synonym: "cancer of reproductive system" RELATED [] +synonym: "malignant reproductive system neoplasm" EXACT [] +synonym: "Reproductive tumor" EXACT [NCI2004_11_17:C3674] +xref: NCI:C3674 +xref: UMLS_CUI:C0178830 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:1930 +name: Laurence-Moon syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Laurence-Moon-Biedl syndrome" RELATED [MTHICD9_2006:759.89] +xref: MSH:D007849 +xref: NCI:C34760 +xref: OMIM:245800 +xref: SNOMEDCT_US_2015_03_01:232059000 +xref: SNOMEDCT_US_2015_03_01:232060005 +xref: SNOMEDCT_US_2015_03_01:5619004 +xref: UMLS_CUI:C0023138 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:1931 +name: hypothalamic disease +synonym: "disorder of hypothalamus (disorder)" EXACT [SNOMEDCT_2005_07_31:399100005] +synonym: "Hypothalamus disorder" EXACT [SNOMEDCT_2005_07_31:88108008] +synonym: "Hypothalamus disorder" EXACT [SNOMEDCT_2005_07_31:190463005] +xref: MSH:D007027 +xref: SNOMEDCT_US_2015_03_01:190463005 +xref: SNOMEDCT_US_2015_03_01:399100005 +xref: SNOMEDCT_US_2015_03_01:88108008 +xref: UMLS_CUI:C0020655 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:1932 +name: Angelman syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "happy puppet syndrome" EXACT [] +synonym: "puppetlike syndrome" EXACT [CSP2005:4008-0043] +xref: ICD10CM:Q93.5 +xref: MSH:D017204 +xref: NCI:C75462 +xref: OMIM:105830 +xref: SNOMEDCT_US_2015_03_01:76880004 +xref: UMLS_CUI:C0162635 +is_a: DOID:0080014 ! chromosomal disease + +[Term] +id: DOID:1933 +name: Rubinstein-Taybi syndrome +def: "An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity." [url:ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome, url:http\://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Broad Thumb-Hallux syndrome" EXACT [] +synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [] +synonym: "Rubinstein syndrome" EXACT [] +xref: ICD10CM:Q87.2 +xref: MSH:D012415 +xref: NCI:C75466 +xref: OMIM:180849 +xref: OMIM:610543 +xref: OMIM:613684 +xref: ORDO:783 +xref: SNOMEDCT_US_2015_03_01:157032007 +xref: SNOMEDCT_US_2015_03_01:45582004 +xref: UMLS_CUI:C0035934 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:1934 +name: dysostosis +def: "A bone development disease that results_in defective ossification of located_in bone." [url:http\://en.wikipedia.org/wiki/Dysostosis, url:http\://medical-dictionary.thefreedictionary.com/dysostosis] +xref: MSH:D004413 +xref: NCI:C34560 +xref: SNOMEDCT_US_2015_03_01:109420003 +xref: UMLS_CUI:C0013393 +is_a: DOID:0080006 ! bone development disease + +[Term] +id: DOID:1935 +name: Bardet-Biedl syndrome +def: "An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases." [url:http\://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, url:http\://en.wikipedia.org/wiki/Ciliopathy, url:http\://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:Q87.89 +xref: MSH:D020788 +xref: OMIM:209900 +xref: OMIM:600151 +xref: OMIM:605231 +xref: OMIM:615981 +xref: OMIM:615982 +xref: OMIM:615983 +xref: OMIM:615984 +xref: OMIM:615985 +xref: OMIM:615986 +xref: OMIM:615987 +xref: OMIM:615988 +xref: OMIM:615989 +xref: OMIM:615990 +xref: OMIM:615991 +xref: OMIM:615992 +xref: OMIM:615993 +xref: OMIM:615994 +xref: OMIM:615995 +xref: OMIM:615996 +xref: ORDO:110 +xref: SNOMEDCT_US_2015_03_01:5619004 +xref: UMLS_CUI:C0752166 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:1936 +name: atherosclerosis +xref: EFO:0003914 +xref: ICD10CM:I25.1 +xref: ICD10CM:I70 +xref: ICD9CM:440 +xref: MSH:D050197 +xref: NCI:C35768 +xref: NCI:C35771 +xref: SNOMEDCT_US_2015_03_01:155382007 +xref: SNOMEDCT_US_2015_03_01:155414001 +xref: SNOMEDCT_US_2015_03_01:194848007 +xref: SNOMEDCT_US_2015_03_01:195251000 +xref: SNOMEDCT_US_2015_03_01:266318005 +xref: SNOMEDCT_US_2015_03_01:38716007 +xref: UMLS_CUI:C0004153 +is_a: DOID:2348 ! arteriosclerotic cardiovascular disease + +[Term] +id: DOID:1938 +name: primary Bacillaceae infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:194 +name: gonadal tissue neoplasm +is_obsolete: true + +[Term] +id: DOID:1941 +name: intermittent alternating exotropia +synonym: "Alternating intermittent exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:59320006] +synonym: "Intermittent alternating exotropia (disorder)" EXACT [SNOMEDCT_2005_07_31:194104000] +synonym: "Intermittent exotropia, alternating" EXACT [ICD9CM_2006:378.24] +is_obsolete: true + +[Term] +id: DOID:1942 +name: intermittent squint +synonym: "Intermittent heterotropia" EXACT [ICD9CM_2006:378.2] +synonym: "Intermittent heterotropia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194105004] +synonym: "Intermittent heterotropia, unspecified" EXACT [ICD9CM_2006:378.20] +synonym: "Intermittent squint (disorder)" EXACT [SNOMEDCT_2005_07_31:74025007] +xref: ICD10CM:H50.3 +xref: ICD10CM:H50.30 +xref: ICD9CM:378.2 +xref: ICD9CM:378.20 +xref: SNOMEDCT_US_2015_03_01:194105004 +xref: SNOMEDCT_US_2015_03_01:246734002 +xref: SNOMEDCT_US_2015_03_01:74025007 +xref: UMLS_CUI:C0152210 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:1943 +name: telogen effluvium +synonym: "Telogen effluvium (disorder)" EXACT [SNOMEDCT_2005_07_31:39479004] +xref: ICD10CM:L65.0 +xref: ICD9CM:704.02 +xref: NCI:C112200 +xref: SNOMEDCT_US_2015_03_01:201147004 +xref: SNOMEDCT_US_2015_03_01:39479004 +xref: UMLS_CUI:C0263518 +is_a: DOID:987 ! alopecia + +[Term] +id: DOID:1947 +name: trichomoniasis +alt_id: DOID:10996 +def: "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." [url:http\://en.wikipedia.org/wiki/Trichomoniasis] +synonym: "trichomonas infection" RELATED [] +xref: ICD10CM:A59 +xref: ICD10CM:A59.9 +xref: ICD9CM:131 +xref: ICD9CM:131.9 +xref: MSH:D014245 +xref: NCI:C35720 +xref: SNOMEDCT_US_2015_03_01:105648001 +xref: SNOMEDCT_US_2015_03_01:187206001 +xref: SNOMEDCT_US_2015_03_01:187364002 +xref: SNOMEDCT_US_2015_03_01:56335008 +xref: UMLS_CUI:C0040921 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:1949 +name: cholecystitis +alt_id: DOID:1948 +alt_id: DOID:2829 +alt_id: DOID:9438 +def: "A cholangitis that is characterized_by an inflammation that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Cholecystitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acute and chronic cholecystitis" EXACT [ICD9CM_2006:575.12] +synonym: "acute and chronic cholecystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:396335001] +synonym: "acute cholecystitis" EXACT [ICD9CM_2006:575.0, NCI2004_11_17:C35152, SNOMEDCT_2005_07_31:155827009, SNOMEDCT_2005_07_31:197408001] +synonym: "acute cholecystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:65275009] +synonym: "acute cholecystitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197411000] +synonym: "acute cholecystitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197409009] +synonym: "acute on chronic cholecystitis" EXACT [] +synonym: "chronic cholecystitis" EXACT [ICD9CM_2006:575.11, SNOMEDCT_2005_07_31:155828004] +synonym: "chronic cholecystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:20824003] +xref: ICD10CM:K81 +xref: ICD10CM:K81.9 +xref: ICD9CM:575.10 +xref: MSH:D002764 +xref: NCI:C34465 +xref: OMIM:600803 +xref: SNOMEDCT_US_2015_03_01:197414008 +xref: SNOMEDCT_US_2015_03_01:76581006 +xref: UMLS_CUI:C0008325 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:195 +name: reproductive endocrine cancer +is_obsolete: true + +[Term] +id: DOID:1954 +name: benign hypertensive heart disease +synonym: "benign hypertensive heart disease (disorder)" EXACT [SNOMEDCT_2005_07_31:36221001] +synonym: "benign hypertensive heart disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194768006] +is_obsolete: true + +[Term] +id: DOID:196 +name: acinar cell tumor +synonym: "acinar cell neoplasm" EXACT [NCI2004_11_17:C4197] +synonym: "acinar cell neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189717008] +synonym: "acinar cell neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115219005] +synonym: "acinar cell neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189719006] +synonym: "acinar cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:83472001] +synonym: "acinar cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189718003] +is_obsolete: true + +[Term] +id: DOID:1962 +name: fallopian tube disease +synonym: "fallopian tube disorder" EXACT [NCI2004_11_17:C26771] +xref: MSH:D005184 +xref: NCI:C26771 +xref: SNOMEDCT_US_2015_03_01:128134005 +xref: UMLS_CUI:C0015556 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:1963 +name: fallopian tube carcinoma +def: "A fallopian tube cancer that is located_in the fallopian tube." [url:http\://www.cancer.gov/dictionary/?CdrID=45687] +synonym: "cancer of the fallopian tube" EXACT [NCI2004_11_17:C3867] +synonym: "carcinoma of fallopian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:276870001] +synonym: "fallopian tube Ca" EXACT [SNOMEDCT_2005_07_31:269602009] +synonym: "fallopian tube Ca" EXACT [SNOMEDCT_2005_07_31:93794008] +synonym: "fallopian tube Ca" EXACT [SNOMEDCT_2005_07_31:154529008] +xref: MSH:D005185 +xref: NCI:C3867 +xref: SNOMEDCT_US_2015_03_01:154529008 +xref: SNOMEDCT_US_2015_03_01:269602009 +xref: SNOMEDCT_US_2015_03_01:276870001 +xref: SNOMEDCT_US_2015_03_01:93794008 +xref: UMLS_CUI:C0238122 +is_a: DOID:1964 ! fallopian tube cancer + +[Term] +id: DOID:1964 +name: fallopian tube cancer +alt_id: DOID:1961 +def: "A female reproductive organ cancer that is located_in fallopian tube." [url:http\://en.wikipedia.org/wiki/Fallopian_tube_cancer] +subset: TopNodes_DOcancerslim +synonym: "fallopian tube neoplasm" EXACT [] +synonym: "malignant neoplasm of uterine tube" EXACT [MTHICD9_2006:183.2] +synonym: "malignant tumor of fallopian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:363444001] +synonym: "malignant tumour of fallopian tube" EXACT [SNOMEDCT_2005_07_31:93794008] +synonym: "neoplasm of fallopian tube (disorder)" EXACT [SNOMEDCT_2005_07_31:126916003] +synonym: "tumor of the fallopian tube" EXACT [NCI2004_11_17:C3032] +synonym: "tumor, fallopian tube, malignant" EXACT [NCI2004_11_17:C7480] +xref: ICD10CM:C57.0 +xref: ICD9CM:183.2 +xref: MSH:D005185 +xref: NCI:C3032 +xref: NCI:C7480 +xref: SNOMEDCT_US_2015_03_01:126916003 +xref: SNOMEDCT_US_2015_03_01:363444001 +xref: SNOMEDCT_US_2015_03_01:93794008 +xref: UMLS_CUI:C0015558 +xref: UMLS_CUI:C0153579 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:1965 +name: fallopian tube leiomyosarcoma +xref: NCI:C40128 +xref: UMLS_CUI:C1517116 +is_a: DOID:1964 ! fallopian tube cancer + +[Term] +id: DOID:1966 +name: fallopian tube soft tissue neoplasm +is_obsolete: true + +[Term] +id: DOID:1967 +name: leiomyosarcoma +def: "A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis." [url:http\://www.cancer.gov/dictionary/?CdrID=46027] +subset: DO_cancer_slim +synonym: "Leiomyosarcomas" EXACT [NCI2004_11_17:C3158] +xref: MSH:D007890 +xref: NCI:C3158 +xref: SNOMEDCT_US_2015_03_01:189790006 +xref: SNOMEDCT_US_2015_03_01:443719001 +xref: SNOMEDCT_US_2015_03_01:51549004 +xref: UMLS_CUI:C0023269 +is_a: DOID:4230 ! smooth muscle cancer + +[Term] +id: DOID:1969 +name: cerebral palsy +alt_id: DOID:1968 +def: "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy, url:http\://www.brainandspinalcord.org/cerebral-palsy/index.html, url:http\://www.cerebralpalsy.org/what-is-cerebral-palsy/] +synonym: "infantile cerebral palsy" EXACT [] +xref: CSP:0723-4729 +xref: ICD10CM:G80 +xref: ICD10CM:G80.9 +xref: ICD9CM:343.8 +xref: MSH:D002547 +xref: NCI:C34460 +xref: SNOMEDCT_US_2015_03_01:1178005 +xref: SNOMEDCT_US_2015_03_01:128188000 +xref: SNOMEDCT_US_2015_03_01:155024003 +xref: SNOMEDCT_US_2015_03_01:267696006 +xref: SNOMEDCT_US_2015_03_01:270488006 +xref: UMLS_CUI:C0007789 +xref: UMLS_CUI:C0029806 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:197 +name: glandular cell epithelial neoplasm +synonym: "glandular cell Epithelium neoplasm" EXACT [NCI2004_11_17:C7132] +is_obsolete: true + +[Term] +id: DOID:1970 +name: fallopian tube carcinosarcoma +def: "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." [url:http\://en.wikipedia.org/wiki/Carcinosarcoma] +subset: DO_cancer_slim +synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [] +synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [] +xref: NCI:C40124 +xref: UMLS_CUI:C1517117 +is_a: DOID:1964 ! fallopian tube cancer + +[Term] +id: DOID:1973 +name: fallopian tube adenosarcoma +synonym: "fallopian tube mullerian adenosarcoma" EXACT [] +xref: NCI:C40125 +xref: UMLS_CUI:C1517121 +is_a: DOID:1970 ! fallopian tube carcinosarcoma + +[Term] +id: DOID:1974 +name: adenosarcoma +def: "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." [url:http\://en.wikipedia.org/wiki/Adenosarcoma, url:http\://medical-dictionary.thefreedictionary.com/adenosarcoma] +synonym: "Adenosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:31470003] +synonym: "mullerian Adenosarcoma" EXACT [NCI2004_11_17:C9474] +xref: MSH:D018195 +xref: NCI:C9474 +xref: SNOMEDCT_US_2015_03_01:189804002 +xref: SNOMEDCT_US_2015_03_01:31470003 +xref: UMLS_CUI:C0001442 +is_a: DOID:4236 ! carcinosarcoma + +[Term] +id: DOID:1975 +name: thymus lipoma +synonym: "Thymolipoma" EXACT [NCI2004_11_17:C6452] +xref: NCI:C6452 +xref: SNOMEDCT_US_2015_03_01:447137005 +xref: UMLS_CUI:C1336744 +is_a: DOID:0060092 ! immune system organ benign neoplasm + +[Term] +id: DOID:1977 +name: lipoma of the mediastinum +synonym: "Lipoma of mediastinum" EXACT [NCI2004_11_17:C6599] +is_obsolete: true + +[Term] +id: DOID:1978 +name: juxtapapillary focal choroiditis and chorioretinitis +synonym: "Focal choroiditis and chorioretinitis, juxtapapillary" EXACT [ICD9CM_2006:363.01] +synonym: "Juxtapapillary focal choroiditis AND chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:6313001] +is_obsolete: true + +[Term] +id: DOID:1979 +name: focal chorioretinitis +xref: ICD10CM:H30.0 +xref: ICD10CM:H30.00 +xref: ICD9CM:363.0 +xref: ICD9CM:363.00 +xref: SNOMEDCT_US_2015_03_01:15847003 +xref: SNOMEDCT_US_2015_03_01:193433002 +xref: SNOMEDCT_US_2015_03_01:193439003 +xref: SNOMEDCT_US_2015_03_01:359668007 +xref: SNOMEDCT_US_2015_03_01:458003 +xref: UMLS_CUI:C0154870 +is_a: DOID:8886 ! chorioretinitis + +[Term] +id: DOID:198 +name: mesonephric tumor +synonym: "Mesonephric neoplasm" EXACT [NCI2004_11_17:C4295] +synonym: "Mesonephric neoplasm (morphology)" EXACT [SNOMEDCT_2005_07_31:127577004] +synonym: "Mesonephric tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189859003] +synonym: "Wolffian duct tumour" EXACT [SNOMEDCT_2005_07_31:13071008] +is_obsolete: true + +[Term] +id: DOID:1982 +name: Rhabdoviridae infectious disease +def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." [url:http\://en.wikipedia.org/wiki/Rhabdoviridae] +is_obsolete: true + +[Term] +id: DOID:1983 +name: Mononegavirales infectious disease +def: "A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." [url:http\://en.wikipedia.org/wiki/Mononegavirales] +is_obsolete: true + +[Term] +id: DOID:1984 +name: rectal neoplasm +synonym: "neoplasm of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:126847008] +synonym: "Rectal tumor" EXACT [NCI2004_11_17:C3350] +synonym: "rectum neoplasm" EXACT [CSP2005:2010-1432] +xref: MSH:D012004 +xref: NCI:C3350 +xref: SNOMEDCT_US_2015_03_01:126847008 +xref: UMLS_CUI:C0034885 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:1986 +name: perinatal disease +is_obsolete: true + +[Term] +id: DOID:1987 +name: fetal disease +synonym: "fetus disorder" EXACT [CSP2005:2403-8856] +is_obsolete: true + +[Term] +id: DOID:1988 +name: rectum lymphoma +synonym: "Lymphoma of rectum" EXACT [NCI2004_11_17:C5553] +xref: NCI:C5553 +xref: UMLS_CUI:C1335685 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:1990 +name: metastasis to the rectum +synonym: "metastatic tumor to the rectum" EXACT [NCI2004_11_17:C7426] +is_obsolete: true + +[Term] +id: DOID:1991 +name: metastases to large Intestine +synonym: "metastatic tumor to the large Intestine" EXACT [NCI2004_11_17:C4581] +synonym: "secondary malignant neoplasm of large intestine (disorder)" EXACT [SNOMEDCT_2005_07_31:94365007] +is_obsolete: true + +[Term] +id: DOID:1992 +name: rectum malignant melanoma +synonym: "malignant melanoma of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:276822007] +synonym: "melanoma of rectum" EXACT [NCI2004_11_17:C4640] +xref: NCI:C4640 +xref: SNOMEDCT_US_2015_03_01:276822007 +xref: UMLS_CUI:C0349539 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:1993 +name: rectum cancer +alt_id: DOID:1989 +def: "A colorectal cancer that is located_in the rectum." [url:http\://www.cancer.gov/dictionary?CdrID=529764] +subset: TopNodes_DOcancerslim +synonym: "cancer of rectum" RELATED [] +synonym: "carcinoma of rectum" EXACT [SNOMEDCT_2005_07_31:187761007] +synonym: "carcinoma of rectum" EXACT [SNOMEDCT_2005_07_31:254582000] +synonym: "carcinoma of the rectum" EXACT [NCI2004_11_17:C9382] +synonym: "malignant neoplasm of rectum" EXACT [ICD9CM_2006:154.1, SNOMEDCT_2005_07_31:187761007, SNOMEDCT_2005_07_31:93984006] +synonym: "malignant Rectal tumor" EXACT [NCI2004_11_17:C7418] +synonym: "malignant rectum tumor" EXACT [] +synonym: "malignant tumor of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:363351006] +synonym: "rectal cancer" EXACT [] +xref: ICD10CM:C20 +xref: ICD9CM:154.1 +xref: MSH:D012004 +xref: NCI:C7418 +xref: NCI:C9382 +xref: SNOMEDCT_US_2015_03_01:154466004 +xref: SNOMEDCT_US_2015_03_01:187761007 +xref: SNOMEDCT_US_2015_03_01:254582000 +xref: SNOMEDCT_US_2015_03_01:269545009 +xref: SNOMEDCT_US_2015_03_01:363351006 +xref: SNOMEDCT_US_2015_03_01:93984006 +xref: UMLS_CUI:C0007113 +xref: UMLS_CUI:C0949022 +is_a: DOID:9256 ! colorectal cancer + +[Term] +id: DOID:1995 +name: rectum sarcoma +def: "A sarcoma and malignant tumor of rectum that is located_in the rectum." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20rectum&c=pc&ss=] +synonym: "sarcoma of rectum" EXACT [NCI2004_11_17:C5548] +xref: NCI:C5548 +xref: UMLS_CUI:C1335688 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:1996 +name: rectum adenocarcinoma +def: "A rectum cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of rectum" RELATED [] +synonym: "adenocarcinoma of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:254582000] +synonym: "Rectal adenocarcinoma" EXACT [NCI2004_11_17:C9383] +xref: NCI:C9383 +xref: SNOMEDCT_US_2015_03_01:254582000 +xref: UMLS_CUI:C0149978 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:1998 +name: Lutembacher's syndrome +synonym: "Lutembacher syndrome" EXACT [] +synonym: "Lutembacher's anomaly (disorder)" EXACT [SNOMEDCT_2005_07_31:38842003] +xref: MSH:D008185 +xref: SNOMEDCT_US_2015_03_01:204319006 +xref: SNOMEDCT_US_2015_03_01:38842003 +xref: UMLS_CUI:C0024164 +is_a: DOID:1882 ! atrial heart septal defect + +[Term] +id: DOID:1999 +name: chronic eustachian salpingitis +def: "A otosalpingitis which is persistent and long-lasting." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] +synonym: "chronic eustachian salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:16397004] +synonym: "chronic eustachian tube salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194269002] +xref: ICD10CM:H68.02 +xref: ICD10CM:H68.029 +xref: ICD9CM:381.52 +xref: SNOMEDCT_US_2015_03_01:16397004 +xref: SNOMEDCT_US_2015_03_01:194269002 +xref: UMLS_CUI:C0155430 +is_a: DOID:2000 ! otosalpingitis + +[Term] +id: DOID:200 +name: giant cell tumor +synonym: "Giant cell neoplasm" EXACT [NCI2004_11_17:C7069] +synonym: "Giant cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115238001] +synonym: "Giant cell tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134300001] +synonym: "Giant cell tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189893004] +synonym: "Giant cell tumors" RELATED [] +synonym: "Giant cell tumors (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189890001] +synonym: "tumor of the Giant cell" EXACT [NCI2004_11_17:C3055] +xref: MSH:D005870 +xref: NCI:C3055 +xref: NCI:C7069 +xref: SNOMEDCT_US_2015_03_01:115238001 +xref: SNOMEDCT_US_2015_03_01:134300001 +xref: SNOMEDCT_US_2015_03_01:189890001 +xref: SNOMEDCT_US_2015_03_01:189893004 +xref: SNOMEDCT_US_2015_03_01:443790001 +xref: UMLS_CUI:C0017525 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:2000 +name: otosalpingitis +def: "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] +synonym: "Eustachian salpingitis" EXACT [ICD9CM_2006:381.5] +synonym: "Eustachian salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:35349000] +synonym: "Eustachian salpingitis, unspecified" EXACT [ICD9CM_2006:381.50] +synonym: "Eustachian tube salpingitis" EXACT [SNOMEDCT_2005_07_31:194266009] +synonym: "Eustachian tube salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:270491006] +synonym: "Eustachian tube salpingitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194270001] +synonym: "Unspecified eustachian tube salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:194267000] +xref: ICD10CM:H68.0 +xref: ICD10CM:H68.00 +xref: ICD10CM:H68.009 +xref: ICD9CM:381.5 +xref: ICD9CM:381.50 +xref: SNOMEDCT_US_2015_03_01:194266009 +xref: SNOMEDCT_US_2015_03_01:194267000 +xref: SNOMEDCT_US_2015_03_01:194270001 +xref: SNOMEDCT_US_2015_03_01:270491006 +xref: SNOMEDCT_US_2015_03_01:35349000 +xref: UMLS_CUI:C0155428 +is_a: DOID:9739 ! eustachian tube disease + +[Term] +id: DOID:2001 +name: neuroma +def: "A nervous system benign neoplasm that is characterized as a nerve tissue tumor." [url:http\://en.wikipedia.org/wiki/Neuroma] +xref: MSH:D009463 +xref: NCI:C3275 +xref: SNOMEDCT_US_2015_03_01:154622009 +xref: SNOMEDCT_US_2015_03_01:189950003 +xref: SNOMEDCT_US_2015_03_01:25169009 +xref: SNOMEDCT_US_2015_03_01:274089002 +xref: SNOMEDCT_US_2015_03_01:443892003 +xref: UMLS_CUI:C0027858 +is_a: DOID:0060115 ! nervous system benign neoplasm + +[Term] +id: DOID:2005 +name: tracheal tuberculosis +def: "A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing." [url:http\://ats.ctsnetjournals.org/cgi/content/full/82/5/1900] +subset: gram-positive_bacterial_infectious_disease +synonym: "Isolated tracheal or bronchial tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:186188004] +synonym: "Isolated tracheal or bronchial tuberculosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186191004] +synonym: "Isolated tracheal or bronchial tuberculosis, unspecified examination" EXACT [ICD9CM_2006:012.20] +is_obsolete: true + +[Term] +id: DOID:2006 +name: preretinal fibrosis +synonym: "cellophane maculopathy" EXACT [SNOMEDCT_2005_07_31:367649002] +synonym: "Macular puckering of retina" EXACT [ICD9CM_2006:362.56] +synonym: "Macular retinal puckering (disorder)" EXACT [SNOMEDCT_2005_07_31:53428005] +xref: ICD9CM:362.56 +xref: SNOMEDCT_US_2015_03_01:367649002 +xref: SNOMEDCT_US_2015_03_01:53428005 +xref: SNOMEDCT_US_2015_03_01:55991001 +xref: UMLS_CUI:C0154853 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:2007 +name: degeneration of macula and posterior pole +synonym: "degeneration of macula and posterior pole (disorder)" EXACT [SNOMEDCT_2005_07_31:267611002] +synonym: "degeneration of macula and posterior pole of retina" EXACT [ICD9CM_2006:362.5] +synonym: "degeneration of macula or posterior pole NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193392009] +xref: ICD10CM:H35.3 +xref: ICD9CM:362.5 +xref: SNOMEDCT_US_2015_03_01:193384000 +xref: SNOMEDCT_US_2015_03_01:193392009 +xref: SNOMEDCT_US_2015_03_01:267611002 +xref: UMLS_CUI:C0339436 +is_a: DOID:4448 ! macular degeneration + +[Term] +id: DOID:201 +name: connective tissue cancer +def: "A musculoskeletal system cancer that is located_in connective tissue." [url:http\://en.wikipedia.org/wiki/Connective_tissue] +subset: TopNodes_DOcancerslim +synonym: "connective tissue neoplasm" EXACT [CSP2005:2008-3809] +synonym: "neoplasm of connective tissues (disorder)" EXACT [SNOMEDCT_2005_07_31:126598008] +synonym: "Tumour of connective tissue" EXACT [SNOMEDCT_2005_07_31:254821003] +xref: MSH:D009372 +xref: SNOMEDCT_US_2015_03_01:126598008 +xref: SNOMEDCT_US_2015_03_01:254821003 +xref: UMLS_CUI:C0027656 +is_a: DOID:0060100 ! musculoskeletal system cancer + +[Term] +id: DOID:2010 +name: impaired mobility of ear ossicles except malleus +synonym: "Impaired mobility of ear ossicles, except malleus (disorder)" EXACT [SNOMEDCT_2005_07_31:25952008] +synonym: "Impaired mobility of other ear ossicles" EXACT [ICD9CM_2006:385.22] +is_obsolete: true + +[Term] +id: DOID:2012 +name: Nezelof syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Nezelof's syndrome" EXACT [ICD9CM_2006:279.13] +synonym: "Nezelof's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:55602000] +synonym: "T-lymphocyte deficiency" EXACT [] +xref: ICD10CM:D81.4 +xref: ICD9CM:279.13 +xref: MSH:C536288 +xref: OMIM:242700 +xref: SNOMEDCT_US_2015_03_01:55602000 +xref: UMLS_CUI:C0152094 +is_a: DOID:11200 ! T cell deficiency + +[Term] +id: DOID:2014 +name: perinatal digestive system disorder +is_obsolete: true + +[Term] +id: DOID:2018 +name: hyperinsulinism +synonym: "hyperinsulinemia" EXACT [CSP2005:2204-2400] +synonym: "hyperinsulinism (disorder)" EXACT [SNOMEDCT_2005_07_31:83469008] +synonym: "hyperinsulinism NOS" EXACT [MTHICD9_2006:251.1] +xref: ICD10CM:E16.1 +xref: MSH:D006946 +xref: NCI:C113104 +xref: SNOMEDCT_US_2015_03_01:124860004 +xref: SNOMEDCT_US_2015_03_01:131103005 +xref: SNOMEDCT_US_2015_03_01:154694003 +xref: SNOMEDCT_US_2015_03_01:267477002 +xref: SNOMEDCT_US_2015_03_01:83469008 +xref: UMLS_CUI:C0020459 +is_a: DOID:1428 ! endocrine pancreas disease +is_a: DOID:4194 ! glucose metabolism disease + +[Term] +id: DOID:2021 +name: placenta cancer +alt_id: DOID:2023 +synonym: "malignant neoplasm of placenta" EXACT [ICD9CM_2006:181, SNOMEDCT_2005_07_31:188187004] +synonym: "malignant Placental tumor" EXACT [NCI2004_11_17:C3555] +synonym: "neoplasm of placenta (disorder)" EXACT [SNOMEDCT_2005_07_31:126920004] +synonym: "placental cancer" EXACT [CSP2005:2403-0590] +synonym: "Placental tumors" EXACT [NCI2004_11_17:C4858] +synonym: "primary malignant neoplasm of placenta" EXACT [SNOMEDCT_2005_07_31:93965008] +xref: ICD10CM:C58 +xref: ICD9CM:181 +xref: NCI:C3555 +xref: SNOMEDCT_US_2015_03_01:188187004 +xref: SNOMEDCT_US_2015_03_01:449421003 +xref: UMLS_CUI:C0153572 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:2022 +name: metastatic neoplasm to the placenta +synonym: "metastatic tumor to the Placenta" EXACT [NCI2004_11_17:C8546] +is_obsolete: true + +[Term] +id: DOID:2024 +name: placental choriocarcinoma +synonym: "Choriocarcinoma of the Placenta" EXACT [NCI2004_11_17:C8893] +xref: NCI:C8893 +xref: SNOMEDCT_US_2015_03_01:448401007 +xref: UMLS_CUI:C0855173 +is_a: DOID:2025 ! gestational choriocarcinoma + +[Term] +id: DOID:2025 +name: gestational choriocarcinoma +synonym: "Gestational choriocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:417057000] +synonym: "Gestational chorionepithelioma" EXACT [SNOMEDCT_2005_07_31:417570003] +synonym: "Molar pregnancy with choriocarcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:1884006] +xref: NCI:C4646 +xref: SNOMEDCT_US_2015_03_01:1884006 +xref: SNOMEDCT_US_2015_03_01:417057000 +xref: SNOMEDCT_US_2015_03_01:417570003 +xref: UMLS_CUI:C0349557 +is_a: DOID:3594 ! choriocarcinoma + +[Term] +id: DOID:2027 +name: fetal or neonatal hemorrhage +is_obsolete: true + +[Term] +id: DOID:203 +name: exostosis +def: "A hyperostosis that involves formation of new bone on the surface of preexisting bone." [url:http\://en.wikipedia.org/wiki/Exostosis, url:http\://medical-dictionary.thefreedictionary.com/exostosis] +synonym: "bone spur" EXACT [NCI2004_11_17:C3029] +synonym: "bony outgrowth" EXACT [SNOMEDCT_2005_07_31:80400009] +synonym: "orbital exostosis" EXACT [] +synonym: "osteophyte" EXACT [SNOMEDCT_2005_07_31:393603002] +synonym: "swimmer's exostosis" EXACT [] +xref: ICD10CM:M27.8 +xref: ICD9CM:726.91 +xref: MSH:D005096 +xref: NCI:C3029 +xref: SNOMEDCT_US_2015_03_01:156665008 +xref: SNOMEDCT_US_2015_03_01:202894007 +xref: SNOMEDCT_US_2015_03_01:267997004 +xref: SNOMEDCT_US_2015_03_01:268091003 +xref: SNOMEDCT_US_2015_03_01:416189003 +xref: SNOMEDCT_US_2015_03_01:80400009 +xref: UMLS_CUI:C1442903 +is_a: DOID:205 ! hyperostosis + +[Term] +id: DOID:2030 +name: anxiety disorder +alt_id: DOID:12884 +def: "A cognitive disorder that involves an excessive, irrational dread of everyday situations." [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml] +synonym: "anxiety state" EXACT [] +xref: ICD10CM:F41.9 +xref: ICD9CM:300.09 +xref: MSH:D001008 +xref: NCI:C2878 +xref: SNOMEDCT_US_2015_03_01:191703000 +xref: SNOMEDCT_US_2015_03_01:192405006 +xref: SNOMEDCT_US_2015_03_01:197480006 +xref: SNOMEDCT_US_2015_03_01:65673007 +xref: UMLS_CUI:C0003469 +xref: UMLS_CUI:C0154455 +is_a: DOID:1561 ! cognitive disorder + +[Term] +id: DOID:2033 +name: communication disorder +def: "A specific developmental disorder that involves specific developmental disorders of speech and language." [url:http\://en.wikipedia.org/wiki/Communication_disorder] +xref: ICD10CM:F80.9 +xref: MSH:D003147 +xref: NCI:C2958 +xref: SNOMEDCT_US_2015_03_01:278919001 +xref: SNOMEDCT_US_2015_03_01:74825008 +xref: UMLS_CUI:C0009460 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:2034 +name: encephalomalacia +synonym: "Encephalomalacia (disorder)" EXACT [SNOMEDCT_2005_07_31:58762006] +xref: MSH:D004678 +xref: NCI:C98920 +xref: SNOMEDCT_US_2015_03_01:58762006 +xref: UMLS_CUI:C0014068 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:2038 +name: urogenital abnormality +is_obsolete: true + +[Term] +id: DOID:204 +name: enthesopathy +xref: ICD10CM:M77.9 +xref: ICD9CM:726.9 +xref: ICD9CM:726.90 +xref: MSH:D012216 +xref: SNOMEDCT_US_2015_03_01:202890003 +xref: SNOMEDCT_US_2015_03_01:23680005 +xref: SNOMEDCT_US_2015_03_01:278525009 +xref: UMLS_CUI:C0242490 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:2043 +name: hepatitis B +alt_id: DOID:12591 +alt_id: DOID:12592 +alt_id: DOID:2042 +def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [url:http\://en.wikipedia.org/wiki/Hepatitis_B#Transmission, url:http\://www.cdc.gov/hepatitis/HBV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] +subset: sexually_transmitted_infectious_disease +synonym: "chronic hepatitis B" EXACT [] +synonym: "hepatitis B infection" EXACT [] +synonym: "Serum hepatitis" RELATED [MTHICD9_2006:070.3] +xref: EFO:0004197 +xref: MSH:D006509 +xref: NCI:C3097 +xref: SNOMEDCT_US_2015_03_01:154348008 +xref: SNOMEDCT_US_2015_03_01:186625003 +xref: SNOMEDCT_US_2015_03_01:266195001 +xref: SNOMEDCT_US_2015_03_01:66071002 +xref: UMLS_CUI:C0019163 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2044 +name: drug-induced hepatitis +synonym: "Drug-induced chronic hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235889003] +xref: MSH:D056487 +xref: SNOMEDCT_US_2015_03_01:235889003 +xref: UMLS_CUI:C0524912 +is_a: DOID:2237 ! hepatitis + +[Term] +id: DOID:2047 +name: hepatitis D +alt_id: DOID:2046 +def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." [url:http\://www.cdc.gov/hepatitis/HDV/index.htm, url:http\://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html] +synonym: "delta hepatitis" EXACT [CSP2005:1754-6994] +xref: MSH:D003699 +xref: SNOMEDCT_US_2015_03_01:424460009 +xref: SNOMEDCT_US_2015_03_01:707341005 +xref: UMLS_CUI:C0011226 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2048 +name: autoimmune hepatitis +alt_id: DOID:4745 +def: "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_hepatitis] +synonym: "Autoimmune chronic active hepatitis" EXACT [SNOMEDCT_2005_07_31:197284004] +synonym: "Autoimmune Hepatitis" EXACT [NCI2004_11_17:C27029] +synonym: "Autoimmune hepatitis" EXACT [SNOMEDCT_2005_07_31:68784009] +synonym: "Autoimmune hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:408335007] +synonym: "autoimmune hepatitis with centrilobular necrosis" EXACT [] +xref: ICD10CM:K75.4 +xref: ICD9CM:571.42 +xref: MSH:D019693 +xref: NCI:C27029 +xref: NCI:C27778 +xref: SNOMEDCT_US_2015_03_01:197284004 +xref: SNOMEDCT_US_2015_03_01:408335007 +xref: SNOMEDCT_US_2015_03_01:68784009 +xref: UMLS_CUI:C0241910 +xref: UMLS_CUI:C1332355 +is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract + +[Term] +id: DOID:205 +name: hyperostosis +def: "A bone remodeling disease that results in an abnormal growth of located_in bone." [url:http\://en.wikipedia.org/wiki/Hyperostosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/h/hyperostosis.aspx, url:http\://www.medterms.com/script/main/art.asp?articlekey=3842] +synonym: "bone hypertrophy" EXACT [NCI2004_11_17:C34712] +synonym: "hypertrophy of bone" EXACT [MTHICD9_2006:733.99] +synonym: "hypertrophy of bone (disorder)" EXACT [SNOMEDCT_2005_07_31:203514008] +synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:13814009] +xref: ICD10CM:M89.3 +xref: ICD10CM:M89.30 +xref: MSH:D015576 +xref: NCI:C34712 +xref: SNOMEDCT_US_2015_03_01:13814009 +xref: SNOMEDCT_US_2015_03_01:203514008 +xref: UMLS_CUI:C0020492 +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:2050 +name: acute maxillary sinusitis +def: "A maxillary sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +synonym: "acute antritis" EXACT [] +xref: ICD10CM:J01.0 +xref: ICD10CM:J01.00 +xref: ICD9CM:461.0 +xref: SNOMEDCT_US_2015_03_01:155499007 +xref: SNOMEDCT_US_2015_03_01:18714001 +xref: SNOMEDCT_US_2015_03_01:68272006 +xref: UMLS_CUI:C0155804 +is_a: DOID:2051 ! maxillary sinusitis + +[Term] +id: DOID:2051 +name: maxillary sinusitis +def: "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] +xref: ICD10CM:J32.0 +xref: MSH:D015523 +xref: NCI:C34809 +xref: SNOMEDCT_US_2015_03_01:275484005 +xref: SNOMEDCT_US_2015_03_01:88348008 +xref: UMLS_CUI:C0024959 +is_a: DOID:0050127 ! sinusitis + +[Term] +id: DOID:2053 +name: reactive cutaneous fibrous lesion +xref: NCI:C27549 +xref: UMLS_CUI:C1335666 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2055 +name: post-traumatic stress disorder +def: "An anxiety disorder which results from a traumatic experience that results in psychological trauma." [url:http\://en.wikipedia.org/wiki/Post-traumatic_stress_disorder] +synonym: "post-traumatic stress disorder" RELATED [] +synonym: "traumatic neurosis" EXACT [CSP2005:4000-0295] +xref: ICD10CM:F43.1 +xref: ICD10CM:F43.10 +xref: ICD9CM:309.81 +xref: MSH:D013313 +xref: NCI:C3389 +xref: SNOMEDCT_US_2015_03_01:192415000 +xref: SNOMEDCT_US_2015_03_01:47505003 +xref: UMLS_CUI:C0038436 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:2058 +name: chronic mucocutaneous candidiasis +alt_id: DOID:2056 +def: "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." [url:http\://emedicine.medscape.com/article/1091928-overview, url:http\://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh] +subset: DO_MGI_slim +synonym: "chronic Mucocutaneous Candidiasis" EXACT [NCI2004_11_17:C34444] +xref: ICD10CM:B37.2 +xref: MSH:D002178 +xref: NCI:C34444 +xref: OMIM:114580 +xref: OMIM:212050 +xref: OMIM:607644 +xref: OMIM:613108 +xref: OMIM:613953 +xref: OMIM:613956 +xref: OMIM:614162 +xref: OMIM:615527 +xref: OMIM:616445 +xref: ORDO:1334 +xref: SNOMEDCT_US_2015_03_01:234568006 +xref: UMLS_CUI:C0006845 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:2059 +name: vulvar disease +xref: MSH:D014845 +xref: NCI:C27631 +xref: SNOMEDCT_US_2015_03_01:5089007 +xref: UMLS_CUI:C0042994 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:206 +name: hereditary multiple exostoses +def: "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth." [url:http\://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, url:http\://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, url:http\://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, url:http\://www.mheresearchfoundation.org/, url:http\://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "hereditary multiple exostoses 1" EXACT [] +synonym: "hereditary multiple exostoses 2" EXACT [] +synonym: "hereditary multiple exostoses 3" EXACT [] +synonym: "Multiple congenital exostosis" EXACT [SNOMEDCT_2005_07_31:205479007] +synonym: "Multiple exostosis syndromes" EXACT [SNOMEDCT_2005_07_31:240186007] +synonym: "multiple ostechondromas" EXACT [] +synonym: "Osteochondromatosis syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:16535008] +xref: ICD10CM:Q78.6 +xref: MSH:D005097 +xref: NCI:C5183 +xref: OMIM:133700 +xref: OMIM:133701 +xref: OMIM:600209 +xref: ORDO:321 +xref: SNOMEDCT_US_2015_03_01:16535008 +xref: SNOMEDCT_US_2015_03_01:205479007 +xref: SNOMEDCT_US_2015_03_01:240186007 +xref: SNOMEDCT_US_2015_03_01:254044004 +xref: SNOMEDCT_US_2015_03_01:84852005 +xref: UMLS_CUI:C0015306 +is_a: DOID:203 ! exostosis + +[Term] +id: DOID:2060 +name: vulvar nodular hidradenoma +xref: NCI:C40312 +xref: UMLS_CUI:C1520091 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:2061 +name: nodular hidradenoma +synonym: "Eccrine nodular hidradenoma" RELATED [SNOMEDCT_2005_07_31:254719003] +synonym: "nodular hidradenoma" RELATED [MTH:NOCODE] +is_a: DOID:3896 ! hidradenoma + +[Term] +id: DOID:2062 +name: vulvar tumor of skin appendage origin +is_obsolete: true + +[Term] +id: DOID:2064 +name: vulvar syringoma +xref: NCI:C40311 +xref: UMLS_CUI:C1520099 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:2065 +name: syringoma +synonym: "Syringoma (disorder)" EXACT [SNOMEDCT_2005_07_31:302828001] +synonym: "Syringoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:71244007] +synonym: "Syringoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134158007] +xref: MSH:D018252 +xref: NCI:C3761 +xref: SNOMEDCT_US_2015_03_01:134158007 +xref: SNOMEDCT_US_2015_03_01:189051001 +xref: SNOMEDCT_US_2015_03_01:302828001 +xref: SNOMEDCT_US_2015_03_01:71244007 +xref: UMLS_CUI:C0206673 +is_a: DOID:2664 ! sweat gland neoplasm + +[Term] +id: DOID:2066 +name: vulvar angiokeratoma +synonym: "Fordyce angiokeratoma of vulva" EXACT [SNOMEDCT_2005_07_31:402841001] +xref: NCI:C8596 +xref: SNOMEDCT_US_2015_03_01:402841001 +xref: UMLS_CUI:C1274281 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:2068 +name: Bartholin's gland benign neoplasm +synonym: "Bartholin gland neoplasm" EXACT [] +synonym: "tumor of Bartholin's gland" EXACT [NCI2004_11_17:C6434] +xref: NCI:C6434 +xref: UMLS_CUI:C0220616 +is_a: DOID:0060088 ! vestibular gland benign neoplasm + +[Term] +id: DOID:2069 +name: vulvar acquired melanocytic nevus +is_obsolete: true + +[Term] +id: DOID:2070 +name: vulvar melanocytic neoplasm +is_obsolete: true + +[Term] +id: DOID:2071 +name: vulvar squamous papilloma +xref: NCI:C6376 +xref: UMLS_CUI:C1336982 +is_a: DOID:2072 ! vulvar squamous tumor + +[Term] +id: DOID:2072 +name: vulvar squamous tumor +xref: NCI:C40283 +xref: UMLS_CUI:C1520097 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:2073 +name: perinatal intestinal perforation +synonym: "Perinatal intestinal perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:65390006] +xref: ICD10CM:P78.0 +xref: ICD9CM:777.6 +xref: SNOMEDCT_US_2015_03_01:206526009 +xref: SNOMEDCT_US_2015_03_01:65390006 +xref: UMLS_CUI:C0159006 +is_a: DOID:2074 ! intestinal perforation + +[Term] +id: DOID:2074 +name: intestinal perforation +synonym: "Perforation of intestine" EXACT [ICD9CM_2006:569.83] +xref: ICD9CM:569.83 +xref: MSH:D007416 +xref: NCI:C39611 +xref: SNOMEDCT_US_2015_03_01:56905009 +xref: UMLS_CUI:C0021845 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:2075 +name: minor vestibular glands adenoma +synonym: "adenoma of minor vestibular glands" RELATED [] +xref: NCI:C40301 +xref: UMLS_CUI:C1510791 +is_a: DOID:0060088 ! vestibular gland benign neoplasm +is_a: DOID:2076 ! vulvar glandular tumor + +[Term] +id: DOID:2076 +name: vulvar glandular tumor +xref: NCI:C40292 +xref: UMLS_CUI:C1520082 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:2077 +name: vulvar congenital melanocytic nevus +is_obsolete: true + +[Term] +id: DOID:2078 +name: chondroid syringoma of the vulva +xref: NCI:C40302 +xref: UMLS_CUI:C1511091 +is_a: DOID:2079 ! eccrine mixed tumor of skin + +[Term] +id: DOID:2079 +name: eccrine mixed tumor of skin +synonym: "Eccrine mixed tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:254720009] +synonym: "Eccrine mixed tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:400144002] +synonym: "mixed Eccrine neoplasm of the skin" EXACT [NCI2004_11_17:C4474] +xref: NCI:C4474 +xref: SNOMEDCT_US_2015_03_01:254720009 +xref: SNOMEDCT_US_2015_03_01:400144002 +xref: UMLS_CUI:C0346026 +is_a: DOID:173 ! eccrine sweat gland neoplasm + +[Term] +id: DOID:208 +name: hereditary neoplastic syndrome +synonym: "Familiar neoplastic syndrome" EXACT [NCI2004_11_17:C3266] +is_obsolete: true + +[Term] +id: DOID:2080 +name: vulvar trichoepithelioma +xref: NCI:C40314 +xref: UMLS_CUI:C1520100 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:2083 +name: vulvar soft tissue tumor +is_obsolete: true + +[Term] +id: DOID:2085 +name: vulvar blue nevus +is_obsolete: true + +[Term] +id: DOID:2086 +name: blue nevus +synonym: "Blue naevus" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "Blue nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:63166000] +synonym: "Blue nevus NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189757006] +synonym: "Blue nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254806009] +synonym: "Blue skin nevus" EXACT [NCI2004_11_17:C3803] +is_obsolete: true + +[Term] +id: DOID:2088 +name: outlet dysfunction constipation +xref: ICD10CM:K59.02 +xref: ICD9CM:564.02 +xref: UMLS_CUI:C0949134 +is_a: DOID:2089 ! constipation + +[Term] +id: DOID:2089 +name: constipation +def: "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces." [PMID:19647687, url:https\://en.wikipedia.org/wiki/Constipation] +xref: ICD10CM:K59.0 +xref: ICD10CM:K59.00 +xref: ICD9CM:564.0 +xref: ICD9CM:564.00 +xref: MSH:D003248 +xref: NCI:C37930 +xref: SNOMEDCT_US_2015_03_01:129585003 +xref: SNOMEDCT_US_2015_03_01:139356000 +xref: SNOMEDCT_US_2015_03_01:139358004 +xref: SNOMEDCT_US_2015_03_01:139359007 +xref: SNOMEDCT_US_2015_03_01:14760008 +xref: SNOMEDCT_US_2015_03_01:162080004 +xref: SNOMEDCT_US_2015_03_01:162082007 +xref: SNOMEDCT_US_2015_03_01:162083002 +xref: SNOMEDCT_US_2015_03_01:197123003 +xref: SNOMEDCT_US_2015_03_01:363693003 +xref: UMLS_CUI:C0009806 +is_a: DOID:9779 ! bowel dysfunction + +[Term] +id: DOID:2092 +name: transient arthritis +xref: ICD10CM:M12.8 +xref: ICD9CM:716.4 +xref: ICD9CM:716.40 +xref: NCI:C35761 +xref: SNOMEDCT_US_2015_03_01:201987005 +xref: SNOMEDCT_US_2015_03_01:202019004 +xref: SNOMEDCT_US_2015_03_01:66191007 +xref: UMLS_CUI:C0152083 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:2093 +name: vulvar melanoma +synonym: "malignant melanoma of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:254896002] +xref: NCI:C40329 +xref: SNOMEDCT_US_2015_03_01:254896002 +xref: UMLS_CUI:C0241989 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:2094 +name: vulvar sweat gland cancer +is_obsolete: true + +[Term] +id: DOID:2095 +name: sweat gland cancer +synonym: "malignant neoplasm of sweat gland" EXACT [] +synonym: "malignant tumor of the Sweat gland" EXACT [NCI2004_11_17:C4810] +xref: ICD10CM:C44 +xref: NCI:C4810 +xref: SNOMEDCT_US_2015_03_01:188083002 +xref: SNOMEDCT_US_2015_03_01:255095005 +xref: SNOMEDCT_US_2015_03_01:32272007 +xref: SNOMEDCT_US_2015_03_01:359719004 +xref: UMLS_CUI:C1321904 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:2096 +name: vulvar sarcoma +synonym: "sarcoma of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:254897006] +xref: NCI:C40317 +xref: SNOMEDCT_US_2015_03_01:254897006 +xref: UMLS_CUI:C0238525 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:2097 +name: vulval Paget's disease +synonym: "Paget's disease of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:254898001] +synonym: "vulval Paget disease" EXACT [] +synonym: "Vulval Paget's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:403948004] +synonym: "Vulvar Paget's disease" EXACT [NCI2004_11_17:C4027] +xref: NCI:C4027 +xref: SNOMEDCT_US_2015_03_01:254898001 +xref: SNOMEDCT_US_2015_03_01:403948004 +xref: UMLS_CUI:C1275217 +is_a: DOID:2098 ! vulva adenocarcinoma + +[Term] +id: DOID:2098 +name: vulva adenocarcinoma +def: "A vulva carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the vulva" RELATED [] +synonym: "adenocarcinoma of Vulva" EXACT [NCI2004_11_17:C6380] +xref: NCI:C6380 +xref: UMLS_CUI:C1336975 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:2099 +name: extramammary Paget's disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "extramammary Paget disease" EXACT [] +synonym: "Extramammary Paget's disease (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:302830004] +synonym: "Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:71447003] +is_obsolete: true + +[Term] +id: DOID:210 +name: heel spur +def: "An exostosis that results_in an abnormal growth located_in calcaneus." [url:http\://en.wikipedia.org/wiki/Calcaneal_spur, url:http\://www.medterms.com/script/main/art.asp?articlekey=7094] +synonym: "Calcaneal spur" RELATED [ICD9CM_2006:726.73] +xref: ICD10CM:M77.3 +xref: ICD10CM:M77.30 +xref: ICD9CM:726.73 +xref: MSH:D036982 +xref: SNOMEDCT_US_2015_03_01:156663001 +xref: SNOMEDCT_US_2015_03_01:268090002 +xref: SNOMEDCT_US_2015_03_01:55260003 +xref: UMLS_CUI:C0158322 +is_a: DOID:203 ! exostosis + +[Term] +id: DOID:2100 +name: vulvar metastasis +is_obsolete: true + +[Term] +id: DOID:2101 +name: vulva squamous cell carcinoma +def: "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma] +subset: DO_cancer_slim +synonym: "squamous cell carcinoma of vulva" RELATED [] +synonym: "Vulvar Epidermoid carcinoma" EXACT [NCI2004_11_17:C4052] +synonym: "vulvar squamous cell carcinoma" EXACT [] +xref: NCI:C4052 +xref: SNOMEDCT_US_2015_03_01:254895003 +xref: UMLS_CUI:C0280856 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:2106 +name: Thomsen disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital myotonia, autosomal dominant form (disorder)" EXACT [SNOMEDCT_2005_07_31:57938005] +synonym: "Congenital myotonia, NOS" EXACT [SNOMEDCT_2005_07_31:72087003] +synonym: "myotonia congenita" EXACT [] +synonym: "Thomsen's disease" EXACT [CSP2005:1849-6776] +synonym: "Thomsen's disease" EXACT [MTHICD9_2006:359.2] +xref: ICD9CM:359.22 +xref: MSH:D009224 +xref: NCI:C84912 +xref: OMIM:160800 +xref: UMLS_CUI:C0027127 +is_a: DOID:1289 ! neurodegenerative disease +is_a: DOID:450 ! myotonic disease + +[Term] +id: DOID:2108 +name: transplant-related disease +def: "An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another." [ls:IEDB] +is_obsolete: true + +[Term] +id: DOID:211 +name: Ankle or tarsus enthesopathy +is_obsolete: true + +[Term] +id: DOID:2112 +name: cystoisosporiasis +alt_id: DOID:4891 +def: "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm] +synonym: "Infection by Isospora belli and Isospora hominis" EXACT [MTHICD9_2006:007.2] +synonym: "isosporiasis" EXACT [] +synonym: "Isosporosis" EXACT [SNOMEDCT_2005_07_31:240373006] +xref: ICD10CM:A07.3 +xref: MSH:D021865 +xref: NCI:C4076 +xref: SNOMEDCT_US_2015_03_01:240373006 +xref: SNOMEDCT_US_2015_03_01:360427001 +xref: SNOMEDCT_US_2015_03_01:371423007 +xref: SNOMEDCT_US_2015_03_01:73034009 +xref: UMLS_CUI:C0311386 +is_a: DOID:2113 ! coccidiosis + +[Term] +id: DOID:2113 +name: coccidiosis +def: "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." [url:http\://en.wikipedia.org/wiki/Coccidiosis] +synonym: "Coccidiosis (& [intestinal])" EXACT [SNOMEDCT_2005_07_31:186125004] +synonym: "intestinal coccidiosis" RELATED [] +xref: MSH:D003048 +xref: NCI:C34493 +xref: SNOMEDCT_US_2015_03_01:186125004 +xref: SNOMEDCT_US_2015_03_01:62005008 +xref: UMLS_CUI:C0009187 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:2115 +name: B cell deficiency +alt_id: DOID:6026 +def: "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf, url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency] +synonym: "B cell (antibody) deficiencies" EXACT [] +synonym: "Immunoglobulin heavy chain deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234539005] +synonym: "immunoglobulin heavy chain deletion" EXACT [] +xref: ICD9CM:279.03 +xref: SNOMEDCT_US_2015_03_01:190982008 +xref: UMLS_CUI:C0154276 +is_a: DOID:612 ! primary immunodeficiency disease + +[Term] +id: DOID:2120 +name: focal dermal hypoplasia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Goltz syndrome" EXACT [CSP2005:0726-8244] +xref: MSH:D005489 +xref: NCI:C84715 +xref: OMIM:305600 +xref: SNOMEDCT_US_2015_03_01:205573006 +xref: SNOMEDCT_US_2015_03_01:2298005 +xref: UMLS_CUI:C0016395 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:2121 +name: ectodermal dysplasia +synonym: "Congenital ectodermal defect" EXACT [SNOMEDCT_2005_07_31:205610005] +synonym: "Congenital ectodermal defect (disorder)" EXACT [SNOMEDCT_2005_07_31:254154003] +synonym: "Congenital ectodermal dysplasia" EXACT [ICD9CM_2006:757.31] +synonym: "Ectodermal dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:8654005] +is_obsolete: true + +[Term] +id: DOID:2122 +name: pneumonic tularemia +def: "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing." [url:http\://www.cdc.gov/tularemia/signssymptoms/] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "bronchopneumonic tularemia" EXACT [] +synonym: "Pneumonic tularaemia" EXACT [SNOMEDCT_2005_07_31:45556008] +synonym: "pulmonary tularemia" EXACT [ICD9CM_2006:021.2] +synonym: "pulmonary tularemia [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:186297007] +xref: ICD10CM:A21.2 +xref: ICD9CM:021.2 +xref: SNOMEDCT_US_2015_03_01:186297007 +xref: SNOMEDCT_US_2015_03_01:45556008 +xref: UMLS_CUI:C0339946 +is_a: DOID:2123 ! tularemia + +[Term] +id: DOID:2123 +name: tularemia +def: "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues." [url:http\://www.cdc.gov/tularemia/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD9CM:021.8 +xref: SNOMEDCT_US_2015_03_01:111834003 +xref: SNOMEDCT_US_2015_03_01:186298002 +xref: SNOMEDCT_US_2015_03_01:186299005 +xref: UMLS_CUI:C0029835 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:2124 +name: intracranial neoplasm +alt_id: DOID:1320 +synonym: "intracranial central nervous system tumors" EXACT [NCI2004_11_17:C4953] +synonym: "intracranial tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:254935002] +synonym: "intracranial tumors, malignant" EXACT [NCI2004_11_17:C5114] +synonym: "malignant intracranial neoplasm" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2127 +name: brain germinoma +synonym: "germinoma of the brain" EXACT [NCI2004_11_17:C6284] +synonym: "intracranial germinoma" EXACT [] +xref: NCI:C6284 +xref: UMLS_CUI:C1332606 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:2128 +name: intracranial germinoma +is_obsolete: true + +[Term] +id: DOID:2129 +name: atypical teratoid rhabdoid tumor +def: "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system." [url:http\://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "AT/RT" RELATED [] +synonym: "Atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128792003] +synonym: "Rhabdoid tumor of the CNS" EXACT [NCI2004_11_17:C6906] +synonym: "rhabdoid tumor predisposition syndrome" RELATED [] +xref: NCI:C6906 +xref: OMIM:609322 +xref: SNOMEDCT_US_2015_03_01:128792003 +xref: UMLS_CUI:C1266184 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:2131 +name: childhood malignant central nervous system neoplasm +synonym: "malignant pediatric tumor of CNS" EXACT [NCI2004_11_17:C5448] +is_obsolete: true + +[Term] +id: DOID:2132 +name: brain sarcoma +synonym: "sarcoma of the brain" EXACT [NCI2004_11_17:C5154] +xref: NCI:C5154 +xref: UMLS_CUI:C1332607 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:2133 +name: central nervous system sarcoma +synonym: "sarcoma of the CNS" EXACT [NCI2004_11_17:C5153] +xref: NCI:C5153 +xref: UMLS_CUI:C1332892 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:2135 +name: temporal lobe neoplasm +alt_id: DOID:2134 +synonym: "malignant neoplasm of temporal lobe" EXACT [] +synonym: "malignant neoplasm of temporal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:363468009] +synonym: "malignant neoplasm of temporal lobe NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188291000] +synonym: "neoplasm of temporal lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:126955002] +synonym: "tumor of Temporal Lobe" EXACT [NCI2004_11_17:C5567] +xref: ICD10CM:C71.2 +xref: ICD9CM:191.2 +xref: NCI:C5567 +xref: SNOMEDCT_US_2015_03_01:126955002 +xref: SNOMEDCT_US_2015_03_01:188291000 +xref: SNOMEDCT_US_2015_03_01:363468009 +xref: SNOMEDCT_US_2015_03_01:94086000 +xref: UMLS_CUI:C0153636 +xref: UMLS_CUI:C1263887 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:2139 +name: paraurethral gland neoplasm +synonym: "neoplasm of paraurethral glands (disorder)" EXACT [SNOMEDCT_2005_07_31:126884005] +synonym: "tumor of the Paraurethral gland" EXACT [NCI2004_11_17:C4378] +xref: SNOMEDCT_US_2015_03_01:126884005 +xref: UMLS_CUI:C0341766 +is_a: DOID:730 ! urethral benign neoplasm + +[Term] +id: DOID:214 +name: teeth hard tissue disease +xref: ICD10CM:K03.8 +xref: ICD10CM:K03.89 +xref: ICD9CM:521.8 +xref: ICD9CM:521.89 +xref: SNOMEDCT_US_2015_03_01:197505001 +xref: UMLS_CUI:C0029770 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:2140 +name: urethral urothelial papilloma +xref: NCI:C5061 +xref: UMLS_CUI:C1519826 +is_a: DOID:730 ! urethral benign neoplasm + +[Term] +id: DOID:2142 +name: urethra leiomyoma +synonym: "leiomyoma of the urethra" EXACT [NCI2004_11_17:C6171] +xref: NCI:C6171 +xref: UMLS_CUI:C1336888 +is_a: DOID:730 ! urethral benign neoplasm + +[Term] +id: DOID:2143 +name: ovarian malignant mesothelioma +xref: NCI:C40444 +xref: UMLS_CUI:C1518721 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2145 +name: malignant ovarian cyst +xref: NCI:C3843 +xref: UMLS_CUI:C0235770 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2146 +name: ovary sarcoma +synonym: "sarcoma of Ovary" EXACT [NCI2004_11_17:C8267] +xref: NCI:C8267 +xref: SNOMEDCT_US_2015_03_01:423627007 +xref: UMLS_CUI:C0280746 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2147 +name: ovary soft tissue neoplasm +synonym: "soft tissue tumor of Ovary" EXACT [NCI2004_11_17:C5244] +is_obsolete: true + +[Term] +id: DOID:2148 +name: tuberculous oophoritis +def: "An urogenital tuberculosis that results_in inflammtion located_in ovary." [url:http\://www.ams.ac.ir/aim/0581/009.pdf] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A18.17 +xref: ICD9CM:016.6 +xref: SNOMEDCT_US_2015_03_01:186242002 +xref: SNOMEDCT_US_2015_03_01:186243007 +xref: UMLS_CUI:C0152828 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:2149 +name: urogenital tuberculosis +def: "An extrapulmonary tuberculosis that is located_in urogenital system." [url:http\://en.wikipedia.org/wiki/Urogenital_tuberculosis] +subset: gram-positive_bacterial_infectious_disease +synonym: "Genitourinary tuberculosis" RELATED [] +xref: ICD10CM:A18.1 +xref: ICD10CM:A18.10 +xref: ICD9CM:016 +xref: ICD9CM:016.9 +xref: MSH:D014401 +xref: SNOMEDCT_US_2015_03_01:186246004 +xref: SNOMEDCT_US_2015_03_01:4445009 +xref: UMLS_CUI:C0041333 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:2150 +name: ovarian lymphoma +xref: NCI:C40021 +xref: UMLS_CUI:C1518720 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2151 +name: malignant ovarian surface epithelial-stromal neoplasm +xref: NCI:C40026 +xref: UMLS_CUI:C1518236 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:2152 +name: ovary epithelial cancer +def: "An ovarian cancer that is derived_from ovarian surface epithelium." [url:http\://en.wikipedia.org/wiki/Ovarian_cancer, url:http\://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor] +synonym: "epithelial tumor of ovary" RELATED [] +synonym: "epithelial tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:237057005] +synonym: "Ovarian Surface epithelial-Stromal tumor" EXACT [NCI2004_11_17:C4381] +xref: NCI:C4381 +xref: SNOMEDCT_US_2015_03_01:237057005 +xref: UMLS_CUI:C0341823 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2153 +name: ovarian Wilms' cancer +def: "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries." [url:http\://www.ncbi.nlm.nih.gov/pubmed/18260155] +synonym: "ovarian Wilms' tumor" RELATED [] +xref: NCI:C40443 +xref: UMLS_CUI:C1518746 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2154 +name: nephroblastoma +alt_id: DOID:5177 +alt_id: DOID:5180 +def: "A kidney cancer that affects the kidneys and typically located_in children." [url:http\://en.wikipedia.org/wiki/Wilms%27_tumor] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "adult nephroblastoma" EXACT [NCI2004_11_17:C6180] +synonym: "adult renal Wilms' tumor" EXACT [] +synonym: "childhood renal Wilms tumor" RELATED [] +synonym: "childhood renal Wilms' cancer" EXACT [] +synonym: "renal Wilms tumor" EXACT [NCI2004_11_17:C40407] +synonym: "Wilms' tumor" RELATED [CSP2005:4001-0143] +xref: EFOpat_id:852 +xref: MSH:D009396 +xref: NCI:C27730 +xref: NCI:C3267 +xref: NCI:C40407 +xref: NCI:C6180 +xref: OMIM:194070 +xref: SNOMEDCT_US_2015_03_01:25081006 +xref: SNOMEDCT_US_2015_03_01:302849000 +xref: SNOMEDCT_US_2015_03_01:31470003 +xref: UMLS_CUI:C0027708 +xref: UMLS_CUI:C1332219 +xref: UMLS_CUI:C1333015 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:2155 +name: malignant ovarian germ cell neoplasm +synonym: "malignant germ cell tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254869000] +synonym: "malignant Ovarian germ cell tumor" EXACT [NCI2004_11_17:C4514] +xref: MSH:C562841 +xref: NCI:C4514 +xref: SNOMEDCT_US_2015_03_01:254869000 +xref: UMLS_CUI:C0346180 +is_a: DOID:2156 ! ovarian germ cell cancer + +[Term] +id: DOID:2156 +name: ovarian germ cell cancer +def: "An ovarian cancer that originates in the germ (egg) cells of the ovary." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "germ cell neoplasm of Ovary" EXACT [NCI2004_11_17:C3873] +synonym: "germ cell tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:237059008] +synonym: "ovarian germ cell tumor" RELATED [] +xref: NCI:C3873 +xref: OMIM:603737 +xref: SNOMEDCT_US_2015_03_01:237059008 +xref: UMLS_CUI:C0238324 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:2158 +name: lung metastasis +synonym: "metastasis to lung" EXACT [SNOMEDCT_2005_07_31:154566002] +synonym: "metastatic tumor to the lung" EXACT [NCI2004_11_17:C3577] +synonym: "secondary malignant neoplasm of lung" EXACT [ICD9CM_2006:197.0] +synonym: "secondary malignant neoplasm of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:94391008] +is_obsolete: true + +[Term] +id: DOID:216 +name: dental caries +alt_id: DOID:10785 +alt_id: DOID:10870 +alt_id: DOID:11913 +synonym: "Dental caries extending into pulp" EXACT [] +synonym: "Dental caries of smooth surface" EXACT [] +synonym: "Dental caries pit and fissure" EXACT [] +xref: EFO:0003819 +xref: ICD10CM:K02 +xref: ICD10CM:K02.6 +xref: ICD10CM:K02.9 +xref: ICD9CM:521.0 +xref: ICD9CM:521.00 +xref: ICD9CM:521.06 +xref: ICD9CM:521.07 +xref: MSH:D003731 +xref: NCI:C52593 +xref: SNOMEDCT_US_2015_03_01:155632007 +xref: SNOMEDCT_US_2015_03_01:196307002 +xref: SNOMEDCT_US_2015_03_01:80967001 +xref: UMLS_CUI:C0011334 +xref: UMLS_CUI:C1456144 +xref: UMLS_CUI:C1456145 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:2163 +name: nasal cavity disease +alt_id: DOID:4728 +synonym: "disorder of nasal cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:232340005] +synonym: "nasal cavity disease NOS" EXACT [SNOMEDCT_2005_07_31:195823002] +synonym: "nasal cavity disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:232359007] +synonym: "nasal cavity disorder" EXACT [NCI2004_11_17:C27102] +synonym: "non-neoplastic nasal cavity disease" EXACT [] +xref: NCI:C27102 +xref: SNOMEDCT_US_2015_03_01:195823002 +xref: SNOMEDCT_US_2015_03_01:232340005 +xref: SNOMEDCT_US_2015_03_01:232359007 +xref: UMLS_CUI:C0339820 +is_a: DOID:2825 ! nose disease + +[Term] +id: DOID:217 +name: enamel caries +synonym: "Dental caries limited to enamel" EXACT [ICD9CM_2006:521.01] +synonym: "Enamel caries (disorder)" EXACT [SNOMEDCT_2005_07_31:80353004] +synonym: "Enamel dental caries unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:196303003] +synonym: "primary dental caries" EXACT [SNOMEDCT_2005_07_31:109570002] +synonym: "simple dental cavity" EXACT [SNOMEDCT_2005_07_31:19437001] +xref: ICD9CM:521.01 +xref: SNOMEDCT_US_2015_03_01:109570002 +xref: SNOMEDCT_US_2015_03_01:19437001 +xref: SNOMEDCT_US_2015_03_01:196303003 +xref: SNOMEDCT_US_2015_03_01:80353004 +xref: UMLS_CUI:C0266853 +is_a: DOID:216 ! dental caries + +[Term] +id: DOID:2170 +name: vaginitis +alt_id: DOID:10769 +xref: ICD9CM:616.1 +xref: ICD9CM:616.10 +xref: MSH:D014627 +xref: NCI:C26911 +xref: SNOMEDCT_US_2015_03_01:155981006 +xref: SNOMEDCT_US_2015_03_01:198212006 +xref: SNOMEDCT_US_2015_03_01:198213001 +xref: SNOMEDCT_US_2015_03_01:198223005 +xref: SNOMEDCT_US_2015_03_01:266655004 +xref: SNOMEDCT_US_2015_03_01:30800001 +xref: SNOMEDCT_US_2015_03_01:393596009 +xref: UMLS_CUI:C0042267 +xref: UMLS_CUI:C0042268 +is_a: DOID:121 ! vaginal disease + +[Term] +id: DOID:2172 +name: malignant eyelid tumor +synonym: "malignant neoplasm of the eyelid" EXACT [NCI2004_11_17:C6786] +synonym: "malignant tumor of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:231829006] +is_obsolete: true + +[Term] +id: DOID:2173 +name: eyelid neoplasm +synonym: "tumor of the eyelid" EXACT [NCI2004_11_17:C3031] +xref: MSH:D005142 +xref: NCI:C3031 +xref: SNOMEDCT_US_2015_03_01:278697001 +xref: UMLS_CUI:C0015424 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2174 +name: ocular cancer +alt_id: DOID:9985 +def: "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye." [url:http\://en.wikipedia.org/wiki/Eye, url:http\://en.wikipedia.org/wiki/Eye_neoplasm] +subset: TopNodes_DOcancerslim +synonym: "eye neoplasm" EXACT [CSP2005:2018-3273] +synonym: "malignant eye neoplasm" EXACT [] +synonym: "neoplasm of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:126995000] +synonym: "neoplasm of eye proper" EXACT [SNOMEDCT_2005_07_31:371486001] +synonym: "Ocular tumor" EXACT [NCI2004_11_17:C3030] +xref: ICD9CM:190.8 +xref: MSH:D005134 +xref: NCI:C3030 +xref: SNOMEDCT_US_2015_03_01:126995000 +xref: SNOMEDCT_US_2015_03_01:188277006 +xref: SNOMEDCT_US_2015_03_01:371486001 +xref: UMLS_CUI:C0015414 +xref: UMLS_CUI:C0153632 +is_a: DOID:0060116 ! sensory system cancer + +[Term] +id: DOID:2176 +name: carbuncle +alt_id: DOID:11083 +alt_id: DOID:11225 +alt_id: DOID:11534 +alt_id: DOID:13284 +alt_id: DOID:13537 +alt_id: DOID:13688 +alt_id: DOID:2175 +alt_id: DOID:2380 +synonym: "carbuncle and furuncle of any part of face except eye" EXACT [] +synonym: "Carbuncle and furuncle of buttock" EXACT [ICD9CM_2006:680.5] +synonym: "Carbuncle and furuncle of face" EXACT [ICD9CM_2006:680.0] +synonym: "carbuncle and furuncle of foot" EXACT [] +synonym: "carbuncle and furuncle of gluteal region" EXACT [] +synonym: "carbuncle and furuncle of hand" EXACT [] +synonym: "carbuncle and furuncle of leg except foot" EXACT [] +synonym: "carbuncle and furuncle of neck" EXACT [] +synonym: "carbuncle and furuncle of trunk" EXACT [] +synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [] +xref: ICD9CM:680.9 +xref: UMLS_CUI:C0007079 +is_a: DOID:4223 ! pyoderma + +[Term] +id: DOID:2177 +name: complications mainly related to pregnancy +alt_id: DOID:11640 +alt_id: DOID:11641 +alt_id: DOID:12099 +alt_id: DOID:12100 +alt_id: DOID:12496 +alt_id: DOID:12497 +alt_id: DOID:12648 +alt_id: DOID:12649 +alt_id: DOID:12947 +alt_id: DOID:12948 +alt_id: DOID:12949 +alt_id: DOID:9624 +alt_id: DOID:9625 +alt_id: DOID:9627 +alt_id: DOID:9628 +alt_id: DOID:9629 +synonym: "antepartum gonorrhea" EXACT [] +synonym: "antepartum malaria" EXACT [] +synonym: "antepartum syphilis" EXACT [] +synonym: "Asymptomatic bacteriuria antepartum" EXACT [] +synonym: "Asymptomatic bacteriuria in pregnancy, with delivery" EXACT [] +synonym: "Asymptomatic bacteriuria postpartum" EXACT [] +synonym: "Gonorrhea + pregnancy" EXACT [SNOMEDCT_2005_07_31:267316003] +synonym: "gonorrhea complicating pregnancy, childbirth, or the puerperium" EXACT [] +synonym: "gonorrhea of mother with delivery" EXACT [] +synonym: "Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium" EXACT [] +synonym: "malaria complicating pregnancy, childbirth, or the puerperium" EXACT [] +synonym: "malaria of mother with delivery" EXACT [] +synonym: "postpartum gonorrhea" EXACT [] +synonym: "postpartum malaria" EXACT [] +synonym: "postpartum syphilis" EXACT [] +synonym: "Syphilis + pregnancy" EXACT [SNOMEDCT_2005_07_31:267316003] +synonym: "Syphilis complicating pregnancy, childbirth, or the puerperium" EXACT [] +synonym: "syphilis of mother, complicating pregnancy, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2179 +name: diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations +synonym: "Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations" EXACT [MTHICD9_2006:250.53] +synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations" EXACT [ICD9CM_2006:250.53] +is_obsolete: true + +[Term] +id: DOID:218 +name: ascending colon cancer +synonym: "Ca ascending colon" EXACT [SNOMEDCT_2005_07_31:154460005] +synonym: "Ca ascending colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269539001] +synonym: "malignant neoplasm of right colon" EXACT [MTHICD9_2006:153.6] +synonym: "malignant tumor of ascending colon (disorder)" EXACT [SNOMEDCT_2005_07_31:363412000] +xref: ICD10CM:C18.2 +xref: ICD9CM:153.6 +xref: SNOMEDCT_US_2015_03_01:154460005 +xref: SNOMEDCT_US_2015_03_01:269539001 +xref: SNOMEDCT_US_2015_03_01:363412000 +xref: SNOMEDCT_US_2015_03_01:93683002 +xref: UMLS_CUI:C0153439 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:2180 +name: diabetic oculopathy +is_obsolete: true + +[Term] +id: DOID:2181 +name: post-surgical hypoinsulinemia +synonym: "Post-surgical hypoinsulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:190437000] +synonym: "Postsurgical hypoinsulinemia" EXACT [ICD9CM_2006:251.3] +synonym: "Postsurgical hypoinsulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:78483000] +xref: ICD10CM:E89.1 +xref: ICD9CM:251.3 +xref: SNOMEDCT_US_2015_03_01:190437000 +xref: SNOMEDCT_US_2015_03_01:78483000 +xref: UMLS_CUI:C0154190 +is_a: DOID:1428 ! endocrine pancreas disease + +[Term] +id: DOID:2186 +name: macrocephaly +alt_id: DOID:14733 +synonym: "(Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly)" EXACT [SNOMEDCT_2005_07_31:204070009] +synonym: "Cole-Hughes syndrome" EXACT [] +synonym: "Macrocephaly (disorder)" EXACT [SNOMEDCT_2005_07_31:19410003] +synonym: "MACROCEPHALY, benign familial" EXACT [] +synonym: "megacephaly" EXACT [NCI2004_11_17:C35268] +is_obsolete: true + +[Term] +id: DOID:2187 +name: amelogenesis imperfecta +def: "A dental enamel hypoplasia characterized by abnormal enamel formation." [url:http\://en.wikipedia.org/wiki/Amelogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +xref: CSP:0828-0533 +xref: ICD10CM:K00.5 +xref: MSH:D000567 +xref: OMIM:104500 +xref: OMIM:104510 +xref: OMIM:104530 +xref: OMIM:130900 +xref: OMIM:204650 +xref: OMIM:204700 +xref: OMIM:301200 +xref: OMIM:301201 +xref: OMIM:612529 +xref: OMIM:613211 +xref: OMIM:614832 +xref: OMIM:615887 +xref: OMIM:616221 +xref: OMIM:616270 +xref: ORDO:88661 +xref: SNOMEDCT_US_2015_03_01:78494001 +xref: UMLS_CUI:C0002452 +is_a: DOID:693 ! dental enamel hypoplasia + +[Term] +id: DOID:219 +name: colon cancer +def: "A colorectal cancer that is located_in the colon." [url:http\://www.cancer.gov/dictionary?CdrID=44237] +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +xref: ICD10CM:C18 +xref: ICD10CM:C18.9 +xref: ICD9CM:153 +xref: ICD9CM:153.9 +xref: MSH:D003110 +xref: NCI:C9242 +xref: SNOMEDCT_US_2015_03_01:154463007 +xref: SNOMEDCT_US_2015_03_01:187759003 +xref: SNOMEDCT_US_2015_03_01:269461008 +xref: SNOMEDCT_US_2015_03_01:269542007 +xref: SNOMEDCT_US_2015_03_01:363406005 +xref: SNOMEDCT_US_2015_03_01:93761005 +xref: UMLS_CUI:C0007102 +is_a: DOID:9256 ! colorectal cancer + +[Term] +id: DOID:221 +name: acute perichondritis of pinna +def: "A perichondritis of auricle with a sudden onset and a short course." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] +synonym: "acute perichondritis of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:45855004] +xref: ICD9CM:380.01 +xref: SNOMEDCT_US_2015_03_01:45855004 +xref: UMLS_CUI:C0155390 +is_a: DOID:222 ! perichondritis of auricle + +[Term] +id: DOID:2211 +name: factor XIII deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency, Laki-Lorand factor" EXACT [MTHICD9_2006:286.3] +synonym: "Factor XIII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:18604004] +synonym: "Hereditary factor XIII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:50189006] +xref: MSH:D005177 +xref: NCI:C98941 +xref: OMIM:613225 +xref: OMIM:613235 +xref: SNOMEDCT_US_2015_03_01:18604004 +xref: SNOMEDCT_US_2015_03_01:50189006 +xref: UMLS_CUI:C0015530 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2212 +name: coagulation protein disease +xref: MSH:D020147 +xref: UMLS_CUI:C0600503 +is_a: DOID:1247 ! blood coagulation disease + +[Term] +id: DOID:2213 +name: hemorrhagic disease +synonym: "Hemorrhagic diathesis" EXACT [MTHICD9_2006:287.9] +synonym: "Hemorrhagic disease" EXACT [SNOMEDCT_2005_07_31:268884000] +xref: ICD10CM:D69.9 +xref: ICD9CM:287.9 +xref: MSH:D006474 +xref: SNOMEDCT_US_2015_03_01:191327000 +xref: SNOMEDCT_US_2015_03_01:191331006 +xref: SNOMEDCT_US_2015_03_01:191437009 +xref: SNOMEDCT_US_2015_03_01:268884000 +xref: UMLS_CUI:C0019087 +is_a: DOID:1247 ! blood coagulation disease + +[Term] +id: DOID:2214 +name: inherited blood coagulation disease +xref: MSH:D025861 +xref: UMLS_CUI:C0852077 +is_a: DOID:1247 ! blood coagulation disease + +[Term] +id: DOID:2215 +name: factor VII deficiency +synonym: "deficiency, stable" EXACT [MTHICD9_2006:286.3] +synonym: "Factor VII deficiency" EXACT [SNOMEDCT_2005_07_31:154820003] +synonym: "Factor VII deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:37193007] +xref: ICD10CM:D68.2 +xref: MSH:D005168 +xref: SNOMEDCT_US_2015_03_01:154820003 +xref: SNOMEDCT_US_2015_03_01:37193007 +xref: UMLS_CUI:C0015503 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2216 +name: factor V deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency, labile" EXACT [MTHICD9_2006:286.3] +synonym: "Factor V deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:4320005] +synonym: "Factor V deficiency [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:191284007] +synonym: "Hereditary hypoproaccelerinaemia" EXACT [SNOMEDCT_2005_07_31:88776002] +synonym: "Labile factor deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:366160003] +synonym: "Proaccelerin deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:365157004] +xref: ICD10CM:D68.2 +xref: MSH:D005166 +xref: NCI:C98938 +xref: OMIM:227400 +xref: SNOMEDCT_US_2015_03_01:191284007 +xref: SNOMEDCT_US_2015_03_01:365157004 +xref: SNOMEDCT_US_2015_03_01:366160003 +xref: SNOMEDCT_US_2015_03_01:4320005 +xref: SNOMEDCT_US_2015_03_01:88776002 +xref: UMLS_CUI:C0015499 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2217 +name: Bernard-Soulier syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Bernard - Soulier thrombopathy" EXACT [SNOMEDCT_2005_07_31:191309003] +synonym: "Bernard Soulier syndrome" EXACT [CSP2005:4001-0130] +synonym: "Giant platelet syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:234478007] +synonym: "Hemorrhagic dystrophic thrombocytopenia" EXACT [SNOMEDCT_2005_07_31:54569005] +synonym: "Thrombopathy, Bernard-Soulier" EXACT [MTHICD9_2006:287.1] +xref: MSH:D001606 +xref: NCI:C84595 +xref: OMIM:153670 +xref: OMIM:231200 +xref: SNOMEDCT_US_2015_03_01:191309003 +xref: SNOMEDCT_US_2015_03_01:234478007 +xref: SNOMEDCT_US_2015_03_01:54569005 +xref: UMLS_CUI:C0005129 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2218 +name: blood platelet disease +synonym: "platelet disorder" EXACT [CSP2005:0446-1413] +synonym: "Thrombocytopathy" EXACT [MTHICD9_2006:287.1] +xref: MSH:D001791 +xref: SNOMEDCT_US_2015_03_01:22716005 +xref: UMLS_CUI:C0005818 +is_a: DOID:2213 ! hemorrhagic disease + +[Term] +id: DOID:2219 +name: Glanzmann's thrombasthenia +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Glanzmann thrombasthenia" EXACT [] +synonym: "Glycoprotein IIb/IIIa defect" EXACT [SNOMEDCT_2005_07_31:191310008] +synonym: "Thrombocytasthenia" EXACT [MTHICD9_2006:287.1] +xref: ICD10CM:D69.1 +xref: MSH:D013915 +xref: NCI:C61249 +xref: OMIM:273800 +xref: SNOMEDCT_US_2015_03_01:191310008 +xref: SNOMEDCT_US_2015_03_01:30577005 +xref: SNOMEDCT_US_2015_03_01:32942005 +xref: UMLS_CUI:C0040015 +is_a: DOID:2214 ! inherited blood coagulation disease +is_a: DOID:2218 ! blood platelet disease + +[Term] +id: DOID:222 +name: perichondritis of auricle +def: "A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [url:http\://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] +synonym: "Perichondritis and chondritis of pinna" EXACT [ICD9CM_2006:380.0] +synonym: "Perichondritis of pinna" EXACT [SNOMEDCT_2005_07_31:155210008] +synonym: "Perichondritis of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:34129005] +synonym: "Perichondritis of pinna NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194197001] +synonym: "Perichondritis of pinna, unspecified" EXACT [ICD9CM_2006:380.00] +synonym: "Unspecified perichondritis of pinna (disorder)" EXACT [SNOMEDCT_2005_07_31:194194008] +xref: ICD10CM:H61.0 +xref: ICD10CM:H61.00 +xref: ICD10CM:H61.009 +xref: ICD9CM:380.0 +xref: ICD9CM:380.00 +xref: SNOMEDCT_US_2015_03_01:155210008 +xref: SNOMEDCT_US_2015_03_01:194194008 +xref: SNOMEDCT_US_2015_03_01:194197001 +xref: SNOMEDCT_US_2015_03_01:236871000119109 +xref: SNOMEDCT_US_2015_03_01:34129005 +xref: UMLS_CUI:C0155389 +is_a: DOID:9463 ! otitis externa + +[Term] +id: DOID:2222 +name: factor X deficiency +synonym: "disease, Stuart-Prower" EXACT [MTHICD9_2006:286.3] +synonym: "Factor X deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:76642003] +xref: MSH:D005171 +xref: SNOMEDCT_US_2015_03_01:76642003 +xref: UMLS_CUI:C0015519 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2223 +name: platelet storage pool deficiency +synonym: "Dense body defect (disorder)" EXACT [SNOMEDCT_2005_07_31:234474009] +synonym: "Platelet dense granule deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:9417000] +synonym: "Platelet storage pool defect" EXACT [SNOMEDCT_2005_07_31:128099001] +xref: MSH:D010981 +xref: SNOMEDCT_US_2015_03_01:128099001 +xref: SNOMEDCT_US_2015_03_01:129655003 +xref: SNOMEDCT_US_2015_03_01:234474009 +xref: SNOMEDCT_US_2015_03_01:9417000 +xref: UMLS_CUI:C0032197 +is_a: DOID:2218 ! blood platelet disease + +[Term] +id: DOID:2224 +name: hemorrhagic thrombocythemia +def: "A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets." [url:http\://www.webmd.com/a-to-z-guides/thrombocythemia-essential] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Essential thrombocythaemia" EXACT [SNOMEDCT_2005_07_31:189513005] +synonym: "familial thrombocytosis" EXACT [] +synonym: "hereditary thrombocythemia" EXACT [] +synonym: "primary Thrombocytosis" EXACT [NCI2004_11_17:C3407] +xref: ICD10CM:D47.3 +xref: ICD9CM:238.71 +xref: MSH:D013920 +xref: NCI:C3407 +xref: OMIM:187950 +xref: OMIM:300331 +xref: OMIM:601977 +xref: OMIM:614521 +xref: ORDO:3318 +xref: ORDO:71493 +xref: SNOMEDCT_US_2015_03_01:109994006 +xref: SNOMEDCT_US_2015_03_01:128844009 +xref: SNOMEDCT_US_2015_03_01:189508006 +xref: SNOMEDCT_US_2015_03_01:189513005 +xref: SNOMEDCT_US_2015_03_01:189514004 +xref: SNOMEDCT_US_2015_03_01:191333009 +xref: SNOMEDCT_US_2015_03_01:234499005 +xref: SNOMEDCT_US_2015_03_01:307652003 +xref: SNOMEDCT_US_2015_03_01:65471002 +xref: UMLS_CUI:C0040028 +is_a: DOID:2226 ! chronic myeloproliferative disease + +[Term] +id: DOID:2225 +name: megakaryocytic tumor +xref: NCI:C7066 +xref: UMLS_CUI:C1334687 +is_a: DOID:0070004 ! myeloma + +[Term] +id: DOID:2226 +name: chronic myeloproliferative disease +alt_id: DOID:6002 +def: "A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood." [url:http\://www.cancer.gov/cancertopics/types/myeloproliferative] +synonym: "CMPD" EXACT [NCI2004_11_17:C4345] +synonym: "CMPD, U" EXACT [NCI2004_11_17:C27350] +xref: ICD10CM:D47.1 +xref: NCI:C4345 +xref: SNOMEDCT_US_2015_03_01:109993000 +xref: SNOMEDCT_US_2015_03_01:115248004 +xref: SNOMEDCT_US_2015_03_01:128842008 +xref: SNOMEDCT_US_2015_03_01:20921005 +xref: UMLS_CUI:C1292778 +is_a: DOID:0070004 ! myeloma + +[Term] +id: DOID:2227 +name: malignant neoplasm of lymphatic and hemopoietic tissue +is_obsolete: true + +[Term] +id: DOID:2228 +name: thrombocytosis +def: "A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood." [url:http\://en.wikipedia.org/wiki/Thrombocytosis, url:http\://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx] +synonym: "Platelet count above reference range" EXACT [SNOMEDCT_2005_07_31:415115007] +synonym: "Thrombocythaemia" EXACT [SNOMEDCT_2005_07_31:142970009] +synonym: "THROMBOCYTHEMIA" EXACT [MTH:NOCODE] +xref: MSH:D013922 +xref: NCI:C35530 +xref: SNOMEDCT_US_2015_03_01:142970009 +xref: SNOMEDCT_US_2015_03_01:165557006 +xref: SNOMEDCT_US_2015_03_01:415115007 +xref: SNOMEDCT_US_2015_03_01:6631009 +xref: SNOMEDCT_US_2015_03_01:79574003 +xref: UMLS_CUI:C0836924 +is_a: DOID:0070004 ! myeloma +is_a: DOID:2218 ! blood platelet disease + +[Term] +id: DOID:2229 +name: factor XI deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital factor XI deficiency" EXACT [ICD9CM_2006:286.2] +synonym: "hemophilia C" EXACT [] +synonym: "Hereditary factor XI deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:49762007] +synonym: "plasma thromboplastin antecedent deficiency" EXACT [] +synonym: "Rosenthal's disease" EXACT [MTHICD9_2006:286.2] +xref: ICD10CM:D68.1 +xref: ICD9CM:286.2 +xref: MSH:D005173 +xref: NCI:C84705 +xref: OMIM:612416 +xref: SNOMEDCT_US_2015_03_01:49762007 +xref: UMLS_CUI:C0015523 +is_a: DOID:0050739 ! autosomal genetic disease + +[Term] +id: DOID:223 +name: basilar artery insufficiency +synonym: "Basilar artery syndrome" EXACT [ICD9CM_2006:435.0] +synonym: "Basilar artery syndrome" EXACT [NCI2004_11_17:C34413] +synonym: "Basilar artery syndrome" EXACT [SNOMEDCT_2005_07_31:195197005] +synonym: "Basilar artery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:64009001] +xref: ICD9CM:435.0 +xref: MSH:D014715 +xref: NCI:C34413 +xref: SNOMEDCT_US_2015_03_01:195197005 +xref: SNOMEDCT_US_2015_03_01:64009001 +xref: UMLS_CUI:C0004812 +is_a: DOID:224 ! transient cerebral ischemia + +[Term] +id: DOID:2230 +name: hemophilia +synonym: "Haemophilia" EXACT [SNOMEDCT_2005_07_31:154816002] +synonym: "hemophilia" EXACT [NCI2004_11_17:C3093] +synonym: "Hemophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:90935002] +synonym: "Hemophilia NOS" EXACT [MTHICD9_2006:286.0] +is_obsolete: true + +[Term] +id: DOID:2231 +name: factor XII deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency, Hageman" EXACT [MTHICD9_2006:286.3] +synonym: "Factor XII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:46981006] +synonym: "Hageman Factor deficiency" EXACT [NCI2004_11_17:C26770] +xref: MSH:D005175 +xref: OMIM:234000 +xref: SNOMEDCT_US_2015_03_01:46981006 +xref: UMLS_CUI:C0015526 +is_a: DOID:0050739 ! autosomal genetic disease + +[Term] +id: DOID:2232 +name: coagulation factor deficiency +is_obsolete: true + +[Term] +id: DOID:2233 +name: partial epilepsy with impairment of consciousness +is_obsolete: true + +[Term] +id: DOID:2234 +name: focal epilepsy +def: "An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response." [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Focal_epilepsy, url:http\://www.aafp.org/afp/2001/0701/p91.html] +synonym: "localisation-related epilepsy" EXACT [SNOMEDCT_2005_07_31:155044009] +synonym: "partial epilepsy" EXACT [] +xref: MSH:D004828 +xref: SNOMEDCT_US_2015_03_01:155041001 +xref: SNOMEDCT_US_2015_03_01:155044009 +xref: SNOMEDCT_US_2015_03_01:193007004 +xref: SNOMEDCT_US_2015_03_01:230381009 +xref: SNOMEDCT_US_2015_03_01:29753000 +xref: SNOMEDCT_US_2015_03_01:67139004 +xref: UMLS_CUI:C0014547 +is_a: DOID:1826 ! epilepsy syndrome + +[Term] +id: DOID:2235 +name: prothrombin deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: " hypoprothrombinemia" EXACT [] +synonym: "Factor II deficiency" RELATED [NCI2004_11_17:C26799] +xref: MSH:D007020 +xref: OMIM:613679 +xref: UMLS_CUI:C0020640 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:2236 +name: congenital afibrinogenemia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Factor I deficiency" EXACT [NCI2004_11_17:C26692] +synonym: "Fibrinogen deficiency" EXACT [SNOMEDCT_2005_07_31:29718007] +xref: ICD10CM:D68.2 +xref: MSH:D000347 +xref: NCI:C26692 +xref: NCI:C98130 +xref: OMIM:202400 +xref: SNOMEDCT_US_2015_03_01:278504009 +xref: SNOMEDCT_US_2015_03_01:29718007 +xref: SNOMEDCT_US_2015_03_01:359727008 +xref: UMLS_CUI:C0001733 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:2237 +name: hepatitis +alt_id: DOID:12352 +alt_id: DOID:14551 +alt_id: DOID:1706 +alt_id: DOID:1707 +alt_id: DOID:2238 +synonym: "acute and subacute liver necrosis" EXACT [] +synonym: "acute and subacute liver necrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:197268000] +synonym: "acute and subacute liver necrosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197278002] +synonym: "acute and subacute necrosis of liver" EXACT [ICD9CM_2006:570] +synonym: "acute hepatitis" EXACT [] +synonym: "acute hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:37871000] +synonym: "acute/subac. necrosis of liver" EXACT [SNOMEDCT_2005_07_31:155808003, SNOMEDCT_2005_07_31:266536009] +synonym: "animal hepatitis" EXACT [] +synonym: "chronic hepatitis" EXACT [] +synonym: "chronic persistent hepatitis" EXACT [SNOMEDCT_2005_07_31:155813004, SNOMEDCT_2005_07_31:266539002] +xref: ICD10CM:K73.9 +xref: ICD9CM:570 +xref: ICD9CM:571.4 +xref: ICD9CM:571.40 +xref: ICD9CM:571.41 +xref: MSH:D006521 +xref: NCI:C82978 +xref: SNOMEDCT_US_2015_03_01:155808003 +xref: SNOMEDCT_US_2015_03_01:155813004 +xref: SNOMEDCT_US_2015_03_01:197268000 +xref: SNOMEDCT_US_2015_03_01:197278002 +xref: SNOMEDCT_US_2015_03_01:197286002 +xref: SNOMEDCT_US_2015_03_01:197288001 +xref: SNOMEDCT_US_2015_03_01:197289009 +xref: SNOMEDCT_US_2015_03_01:266536009 +xref: SNOMEDCT_US_2015_03_01:266539002 +xref: SNOMEDCT_US_2015_03_01:41889008 +xref: SNOMEDCT_US_2015_03_01:68784009 +xref: SNOMEDCT_US_2015_03_01:76783007 +xref: UMLS_CUI:C0001308 +xref: UMLS_CUI:C0019189 +xref: UMLS_CUI:C0149519 +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:2239 +name: granulomatous hepatitis +synonym: "Granulomatous hepatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:86514004] +xref: NCI:C27015 +xref: SNOMEDCT_US_2015_03_01:86514004 +xref: UMLS_CUI:C0235369 +is_a: DOID:2237 ! hepatitis + +[Term] +id: DOID:224 +name: transient cerebral ischemia +alt_id: DOID:2315 +synonym: "TIA" EXACT [CSP2005:4001-0136, MTHICD9_2006:435.9] +synonym: "TIA - Transient ischaemic attack" EXACT [SNOMEDCT_2005_07_31:266257000] +synonym: "Transient cerebral ischaemia" EXACT [SNOMEDCT_2005_07_31:155404005, SNOMEDCT_2005_07_31:195196001, SNOMEDCT_2005_07_31:266314007] +synonym: "Transient cerebral ischaemia NOS" EXACT [SNOMEDCT_2005_07_31:195207009] +synonym: "Transient cerebral ischemia (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:38609002] +synonym: "TRANSIENT ISCHEMIC ATTACK" EXACT [MTH:NOCODE] +synonym: "transient ischemic attack" EXACT [] +synonym: "Transient ischemic attacks (disorder)" EXACT [SNOMEDCT_2005_07_31:313242003] +xref: ICD10CM:G45.9 +xref: ICD9CM:435.8 +xref: MSH:D002546 +xref: NCI:C50781 +xref: SNOMEDCT_US_2015_03_01:155404005 +xref: SNOMEDCT_US_2015_03_01:195196001 +xref: SNOMEDCT_US_2015_03_01:195207009 +xref: SNOMEDCT_US_2015_03_01:266257000 +xref: SNOMEDCT_US_2015_03_01:266314007 +xref: SNOMEDCT_US_2015_03_01:313242003 +xref: SNOMEDCT_US_2015_03_01:38609002 +xref: UMLS_CUI:C0007787 +xref: UMLS_CUI:C0155728 +is_a: DOID:2316 ! brain ischemia + +[Term] +id: DOID:2242 +name: mild recurrent major depression +synonym: "Major depressive disorder, recurrent episode, mild degree" EXACT [ICD9CM_2006:296.31] +synonym: "Mild recurrent major depression (disorder)" EXACT [SNOMEDCT_2005_07_31:40379007] +synonym: "recurrent major depressive episodes, mild (disorder)" EXACT [SNOMEDCT_2005_07_31:191610000] +is_obsolete: true + +[Term] +id: DOID:2247 +name: spondylosis +alt_id: DOID:8708 +alt_id: DOID:8709 +alt_id: DOID:8888 +alt_id: DOID:8905 +alt_id: DOID:9949 +def: "An bone structure disease that involves degeneration between vertebra located_in vertebral column." [url:http\://en.wikipedia.org/wiki/Spondylosis, url:http\://www.mayoclinic.com/health/cervical-spondylosis/DS00697, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000436.htm, url:http\://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means, url:http\://www.spineuniverse.com/conditions/spondylosis/spondylosis] +synonym: "Lumbar spondylosis with myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:67437007] +synonym: "lumbosacral spondylosis without myelopathy" EXACT [] +synonym: "Spondylogenic compression of lumbar spinal cord" EXACT [MTHICD9_2006:721.42] +synonym: "Spondylogenic compression of thoracic spinal cord" EXACT [MTHICD9_2006:721.41] +synonym: "spondylosis with myelopathy" EXACT [] +synonym: "Spondylosis with myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:79232007] +synonym: "Thoracic or lumbar spondylosis with myelopathy" EXACT [] +xref: ICD10CM:M47 +xref: ICD10CM:M47.9 +xref: ICD9CM:721.9 +xref: MSH:D055009 +xref: SNOMEDCT_US_2015_03_01:156622007 +xref: SNOMEDCT_US_2015_03_01:156628006 +xref: SNOMEDCT_US_2015_03_01:202701004 +xref: SNOMEDCT_US_2015_03_01:202704007 +xref: SNOMEDCT_US_2015_03_01:267973008 +xref: SNOMEDCT_US_2015_03_01:268074002 +xref: SNOMEDCT_US_2015_03_01:268075001 +xref: SNOMEDCT_US_2015_03_01:8847002 +xref: UMLS_CUI:C0038019 +is_a: DOID:0080010 ! bone structure disease + +[Term] +id: DOID:225 +name: syndrome +def: "A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome] +xref: MSH:D013577 +xref: NCI:C28193 +xref: SNOMEDCT_US_2015_03_01:64572001 +xref: UMLS_CUI:C0039082 +is_a: DOID:4 ! disease + +[Term] +id: DOID:2251 +name: hypertrophic elongation of cervix +synonym: "hypertrophic elongation of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:198353000] +synonym: "hypertrophic elongation of cervix (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:35863000] +xref: ICD10CM:N88.4 +xref: ICD9CM:622.6 +xref: SNOMEDCT_US_2015_03_01:198353000 +xref: SNOMEDCT_US_2015_03_01:35863000 +xref: UMLS_CUI:C0020561 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:2253 +name: cervix disease +xref: MSH:D002577 +xref: NCI:C40241 +xref: SNOMEDCT_US_2015_03_01:156010005 +xref: SNOMEDCT_US_2015_03_01:156014001 +xref: SNOMEDCT_US_2015_03_01:266661001 +xref: SNOMEDCT_US_2015_03_01:286988004 +xref: SNOMEDCT_US_2015_03_01:63339007 +xref: UMLS_CUI:C0007867 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:2255 +name: short rib-polydactyly syndrome +is_obsolete: true + +[Term] +id: DOID:2256 +name: osteochondrodysplasia +alt_id: DOID:1764 +def: "A bone development disease that results_in defective development of cartilage or bone." [url:http\://en.wikipedia.org/wiki/Osteochondrodysplasia, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx] +synonym: "Cartilage Development disorder" EXACT [NCI2004_11_17:C34466] +synonym: "chondrodystrophy" EXACT [] +synonym: "Congenital anomaly of cartilage (disorder)" EXACT [SNOMEDCT_2005_07_31:67988000] +synonym: "Osteochondrodysplasia syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:105985007] +synonym: "Unspecified anomaly of cartilage (disorder)" EXACT [SNOMEDCT_2005_07_31:205539001] +xref: ICD10CM:Q78.9 +xref: ICD9CM:756.4 +xref: MSH:D010009 +xref: NCI:C34466 +xref: NCI:C84978 +xref: SNOMEDCT_US_2015_03_01:105985007 +xref: SNOMEDCT_US_2015_03_01:205510001 +xref: SNOMEDCT_US_2015_03_01:205539001 +xref: SNOMEDCT_US_2015_03_01:240190009 +xref: SNOMEDCT_US_2015_03_01:268350005 +xref: SNOMEDCT_US_2015_03_01:378007 +xref: SNOMEDCT_US_2015_03_01:67988000 +xref: UMLS_CUI:C0008449 +xref: UMLS_CUI:C0029422 +is_a: DOID:0080006 ! bone development disease + +[Term] +id: DOID:2257 +name: primary Spirochaetales infectious disease +alt_id: DOID:0060034 +subset: gram-negative_bacterial_infectious_disease +synonym: "Spirochetes infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2265 +name: Treponema infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Treponema infection" EXACT [CSP2005:0368-3344] +synonym: "Treponemal disease" EXACT [SNOMEDCT_2005_07_31:76272004] +synonym: "Treponemal infection" EXACT [SNOMEDCT_2005_07_31:186904000] +synonym: "Treponemal infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:227 +name: ankylosis +def: "Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself." [url:http\://en.wikipedia.org/wiki/Ankylosis] +xref: ICD10CM:M24.6 +xref: ICD9CM:718.5 +xref: ICD9CM:718.50 +xref: MSH:D000844 +xref: SNOMEDCT_US_2015_03_01:111227009 +xref: SNOMEDCT_US_2015_03_01:156559001 +xref: SNOMEDCT_US_2015_03_01:156569007 +xref: SNOMEDCT_US_2015_03_01:202297005 +xref: SNOMEDCT_US_2015_03_01:202323002 +xref: SNOMEDCT_US_2015_03_01:36504009 +xref: UMLS_CUI:C0003090 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:2271 +name: oropharyngeal candidiasis +def: "A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] +synonym: "Oropharyngeal Candidiasis" EXACT [NCI2004_11_17:C4985] +synonym: "oropharyngeal thrush" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2272 +name: vulvovaginal candidiasis +def: "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] +synonym: "Candidal vulvovaginitis" EXACT [SNOMEDCT_2005_07_31:154404004] +synonym: "Candidal vulvovaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:72605008] +synonym: "Candidal vulvovaginitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266155003] +synonym: "Candidal: [vulvovaginitis NOS] or [cervix]" EXACT [SNOMEDCT_2005_07_31:187009004] +synonym: "Candidiasis of vulva and vagina" EXACT [ICD9CM_2006:112.1] +synonym: "Monilial vulvovaginitis" EXACT [MTHICD9_2006:112.1] +synonym: "Vulvovaginal Candidiasis" EXACT [NCI2004_11_17:C2914] +xref: ICD10CM:B37.3 +xref: ICD9CM:112.1 +xref: MSH:D002181 +xref: NCI:C2914 +xref: SNOMEDCT_US_2015_03_01:154404004 +xref: SNOMEDCT_US_2015_03_01:187009004 +xref: SNOMEDCT_US_2015_03_01:266155003 +xref: SNOMEDCT_US_2015_03_01:72605008 +xref: UMLS_CUI:C0700345 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:2273 +name: vulvovaginitis +synonym: "Vulvo-vaginitis" EXACT [SNOMEDCT_2005_07_31:266655004] +xref: ICD10CM:N76.0 +xref: MSH:D014848 +xref: NCI:C35131 +xref: SNOMEDCT_US_2015_03_01:155981006 +xref: SNOMEDCT_US_2015_03_01:198215008 +xref: SNOMEDCT_US_2015_03_01:266655004 +xref: SNOMEDCT_US_2015_03_01:53277000 +xref: UMLS_CUI:C0042998 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:2275 +name: pharyngitis +alt_id: DOID:10455 +alt_id: DOID:11586 +alt_id: DOID:11588 +alt_id: DOID:938 +alt_id: DOID:939 +def: "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as \"sore throat\". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever." [url:http\://en.wikipedia.org/wiki/Pharyngitis, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016] +synonym: "acute pharyngitis" EXACT [ICD9CM_2006:462, SNOMEDCT_2005_07_31:195654001] +synonym: "acute sore throat" EXACT [SNOMEDCT_2005_07_31:367427004] +synonym: "acute sore throat NOS" EXACT [MTHICD9_2006:462] +synonym: "chronic pharyn/nasopharyngitis" EXACT [SNOMEDCT_2005_07_31:155521003, SNOMEDCT_2005_07_31:266383007] +synonym: "chronic pharyngitis" EXACT [ICD9CM_2006:472.1, SNOMEDCT_2005_07_31:155523000] +synonym: "chronic pharyngitis and nasopharyngitis" EXACT [] +synonym: "chronic sore throat" EXACT [] +synonym: "Inflamed throat" EXACT [SNOMEDCT_2005_07_31:141458004] +synonym: "Persistent sore throat" EXACT [SNOMEDCT_2005_07_31:275488008] +synonym: "pharyngeal disease" RELATED [] +synonym: "Pharyngeal disorder" EXACT [NCI2004_11_17:C26850] +synonym: "Pharyngitis - acute" EXACT [SNOMEDCT_2005_07_31:155502006, SNOMEDCT_2005_07_31:266379007] +synonym: "Sore throat - chronic" EXACT [SNOMEDCT_2005_07_31:139659001, SNOMEDCT_2005_07_31:162389005] +xref: ICD10CM:J02 +xref: ICD10CM:J02.9 +xref: ICD9CM:462 +xref: ICD9CM:472 +xref: ICD9CM:478.20 +xref: MSH:D010608 +xref: MSH:D010612 +xref: NCI:C26850 +xref: NCI:C26851 +xref: NCI:C34355 +xref: SNOMEDCT_US_2015_03_01:141458004 +xref: SNOMEDCT_US_2015_03_01:155502006 +xref: SNOMEDCT_US_2015_03_01:155521003 +xref: SNOMEDCT_US_2015_03_01:164261009 +xref: SNOMEDCT_US_2015_03_01:195654001 +xref: SNOMEDCT_US_2015_03_01:195664005 +xref: SNOMEDCT_US_2015_03_01:195763009 +xref: SNOMEDCT_US_2015_03_01:195784004 +xref: SNOMEDCT_US_2015_03_01:195832000 +xref: SNOMEDCT_US_2015_03_01:266379007 +xref: SNOMEDCT_US_2015_03_01:266383007 +xref: SNOMEDCT_US_2015_03_01:27321001 +xref: SNOMEDCT_US_2015_03_01:363746003 +xref: SNOMEDCT_US_2015_03_01:367427004 +xref: SNOMEDCT_US_2015_03_01:37616004 +xref: SNOMEDCT_US_2015_03_01:405737000 +xref: SNOMEDCT_US_2015_03_01:75860007 +xref: UMLS_CUI:C0001344 +xref: UMLS_CUI:C0031345 +xref: UMLS_CUI:C0031350 +xref: UMLS_CUI:C0155824 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:2277 +name: gonadal disease +def: "An endocrine system disease that is located_in the gonads." [url:http\://semmelweis.hu/belgyogyaszat3/files/2011/05/drigazp-gonaddiseasesenglishiii-publicversion.pdf] +xref: MSH:D006058 +xref: NCI:C26786 +xref: UMLS_CUI:C0018050 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:2279 +name: joint derangement +is_obsolete: true + +[Term] +id: DOID:2280 +name: hidradenitis suppurativa +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acne inversa, familial" EXACT [] +synonym: "Hidradenitis suppurativa" EXACT [MTHICD9_2006:705.83] +synonym: "Hidradenitis suppurativa" EXACT [SNOMEDCT_2005_07_31:201204008] +synonym: "Hidradenitis suppurativa" EXACT [SNOMEDCT_2005_07_31:156417004] +synonym: "Hidradenitis suppurativa" EXACT [SNOMEDCT_2005_07_31:267866004] +synonym: "Hidradenitis suppurativa (disorder)" EXACT [SNOMEDCT_2005_07_31:59393003] +xref: ICD10CM:L73.2 +xref: MSH:D017497 +xref: OMIM:142690 +xref: OMIM:613736 +xref: OMIM:613737 +xref: SNOMEDCT_US_2015_03_01:156417004 +xref: SNOMEDCT_US_2015_03_01:201204008 +xref: SNOMEDCT_US_2015_03_01:267866004 +xref: SNOMEDCT_US_2015_03_01:59393003 +xref: UMLS_CUI:C0162836 +is_a: DOID:2282 ! hidradenitis + +[Term] +id: DOID:2282 +name: hidradenitis +synonym: "Hidradenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69741000] +synonym: "Hydradenitis" EXACT [SNOMEDCT_2005_07_31:267866004] +synonym: "Hydradenitis" EXACT [SNOMEDCT_2005_07_31:156417004] +xref: ICD9CM:705.83 +xref: MSH:D016575 +xref: NCI:C112190 +xref: SNOMEDCT_US_2015_03_01:156417004 +xref: SNOMEDCT_US_2015_03_01:201204008 +xref: SNOMEDCT_US_2015_03_01:267814008 +xref: SNOMEDCT_US_2015_03_01:267866004 +xref: SNOMEDCT_US_2015_03_01:69741000 +xref: UMLS_CUI:C0085160 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:2283 +name: keratopathy +xref: NCI:C27012 +xref: UMLS_CUI:C0235270 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:2286 +name: capillary lymphangioma +synonym: "cutaneous lymphangioma" RELATED [] +xref: NCI:C27509 +xref: SNOMEDCT_US_2015_03_01:445492005 +xref: UMLS_CUI:C1333176 +is_a: DOID:1475 ! lymphangioma + +[Term] +id: DOID:229 +name: female reproductive system disease +def: "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes." [url:http\://en.wikipedia.org/wiki/Female_reproductive_system, url:http\://en.wikipedia.org/wiki/Reproductive_system_disease] +xref: ICD9CM:629.9 +xref: MSH:D005831 +xref: SNOMEDCT_US_2015_03_01:156032001 +xref: SNOMEDCT_US_2015_03_01:156066005 +xref: SNOMEDCT_US_2015_03_01:198486002 +xref: SNOMEDCT_US_2015_03_01:244938009 +xref: SNOMEDCT_US_2015_03_01:266680004 +xref: SNOMEDCT_US_2015_03_01:310789003 +xref: SNOMEDCT_US_2015_03_01:38233001 +xref: UMLS_CUI:C0017411 +is_a: DOID:15 ! reproductive system disease + +[Term] +id: DOID:2297 +name: leptospirosis +alt_id: DOID:11348 +def: "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly." [url:http\://en.wikipedia.org/wiki/Leptospirosis] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Fort Bragg fever" EXACT [] +synonym: "Leptospiral or spirochetal jaundice" EXACT [MTHICD9_2006:100.0] +synonym: "Leptospirosis icterohaemorrhagica" EXACT [SNOMEDCT_2005_07_31:186954006] +synonym: "Leptospirosis icterohemorrhagica" EXACT [ICD9CM_2006:100.0] +synonym: "Leptospirosis icterohemorrhagica (disorder)" EXACT [SNOMEDCT_2005_07_31:398222003, SNOMEDCT_2005_07_31:69092001] +synonym: "nanukayami fever" EXACT [] +synonym: "Rat Catcher's Yellows" EXACT [] +synonym: "spirochetal jaundice" EXACT [CSP2005:0368-3335] +synonym: "Weil's disease" EXACT [SNOMEDCT_2005_07_31:154391003, SNOMEDCT_2005_07_31:266213004] +synonym: "Weil's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:398067003] +xref: ICD10CM:A27 +xref: ICD10CM:A27.0 +xref: ICD10CM:A27.9 +xref: ICD9CM:100 +xref: ICD9CM:100.0 +xref: ICD9CM:100.9 +xref: MSH:C531728 +xref: MSH:D007922 +xref: MSH:D014895 +xref: NCI:C84825 +xref: SNOMEDCT_US_2015_03_01:154391003 +xref: SNOMEDCT_US_2015_03_01:186953000 +xref: SNOMEDCT_US_2015_03_01:186954006 +xref: SNOMEDCT_US_2015_03_01:186958009 +xref: SNOMEDCT_US_2015_03_01:186959001 +xref: SNOMEDCT_US_2015_03_01:187311001 +xref: SNOMEDCT_US_2015_03_01:266213004 +xref: SNOMEDCT_US_2015_03_01:398067003 +xref: SNOMEDCT_US_2015_03_01:398222003 +xref: SNOMEDCT_US_2015_03_01:50574007 +xref: SNOMEDCT_US_2015_03_01:69092001 +xref: SNOMEDCT_US_2015_03_01:77377001 +xref: UMLS_CUI:C0023364 +xref: UMLS_CUI:C0043102 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:230 +name: lateral sclerosis +def: "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs." [url:http\://en.wikipedia.org/wiki/Primary_lateral_sclerosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "adult-onset primary lateral sclerosis" EXACT [] +synonym: "primary lateral sclerosis" EXACT [ICD9CM_2006:335.24] +xref: ICD10CM:G12.29 +xref: ICD9CM:335.24 +xref: MSH:D016472 +xref: OMIM:611637 +xref: ORDO:35689 +xref: SNOMEDCT_US_2015_03_01:81211007 +xref: UMLS_CUI:C0154682 +is_a: DOID:231 ! motor neuron disease + +[Term] +id: DOID:2300 +name: spondylolysis +def: "A bone structure disease that involves a defect located_in lumbar vertebral column." [url:http\://emedicine.medscape.com/article/395916-overview, url:http\://en.wikipedia.org/wiki/Spondylolysis, url:http\://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] +xref: ICD10CM:M43.0 +xref: ICD10CM:M43.00 +xref: MSH:D013169 +xref: NCI:C35034 +xref: SNOMEDCT_US_2015_03_01:203688008 +xref: SNOMEDCT_US_2015_03_01:240221008 +xref: UMLS_CUI:C0038018 +is_a: DOID:0080010 ! bone structure disease + +[Term] +id: DOID:2301 +name: atrophy of prostate +synonym: "Atrophy of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:29524003] +xref: ICD9CM:602.2 +xref: SNOMEDCT_US_2015_03_01:29524003 +xref: UMLS_CUI:C0156296 +is_a: DOID:47 ! prostate disease + +[Term] +id: DOID:2303 +name: stereotypic movement disorder +def: "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking." [url:http\://www.minddisorders.com/Py-Z/Stereotypic-movement-disorder.html] +synonym: "Stereotyped repetitive movements NOS (finding)" EXACT [SNOMEDCT_2005_07_31:191993004] +synonym: "Stereotypy habit disorder" EXACT [SNOMEDCT_2005_07_31:5507002] +xref: ICD10CM:F98.4 +xref: ICD9CM:307.3 +xref: MSH:D019956 +xref: SNOMEDCT_US_2015_03_01:191993004 +xref: SNOMEDCT_US_2015_03_01:5507002 +xref: UMLS_CUI:C0038273 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:231 +name: motor neuron disease +def: "A neurodegenerative disease that is located_in the motor neurones." [url:http\://en.wikipedia.org/wiki/Motor_neuron_disease] +xref: ICD10CM:G12.2 +xref: ICD10CM:G12.20 +xref: ICD9CM:335.2 +xref: MSH:D016472 +xref: SNOMEDCT_US_2015_03_01:155015007 +xref: SNOMEDCT_US_2015_03_01:192888001 +xref: SNOMEDCT_US_2015_03_01:192889009 +xref: SNOMEDCT_US_2015_03_01:192890000 +xref: SNOMEDCT_US_2015_03_01:37340000 +xref: UMLS_CUI:C0085084 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:2312 +name: nocardiosis +def: "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." [url:http\://emedicine.medscape.com/article/224123-clinical, url:http\://en.wikipedia.org/wiki/Nocardiosis] +subset: gram-positive_bacterial_infectious_disease +synonym: "Nocardia infectious disease" EXACT [] +xref: ICD10CM:A43 +xref: ICD10CM:A43.9 +xref: MSH:D009617 +xref: SNOMEDCT_US_2015_03_01:186404005 +xref: SNOMEDCT_US_2015_03_01:187337003 +xref: SNOMEDCT_US_2015_03_01:29227009 +xref: UMLS_CUI:C0028242 +is_a: DOID:0050340 ! opportunistic bacterial infectious disease + +[Term] +id: DOID:2313 +name: primary Actinomycetales infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Actinomycetales infection" EXACT [CSP2005:0368-2354] +is_obsolete: true + +[Term] +id: DOID:2314 +name: malt worker's lung +def: "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley." [url:http\://en.wikipedia.org/wiki/hypersensitivity_pneumonitis, url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm] +synonym: "alveolitis due to aspergillus clavatus" EXACT [] +synonym: "malt worker lung" EXACT [] +synonym: "Malt workers' lung" EXACT [ICD9CM_2006:495.4] +synonym: "Malt-workers' lung (disorder)" EXACT [SNOMEDCT_2005_07_31:25897000] +xref: ICD10CM:J67.4 +xref: ICD9CM:495.4 +xref: SNOMEDCT_US_2015_03_01:25897000 +xref: UMLS_CUI:C0155888 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:2316 +name: brain ischemia +synonym: "Ischaemic encephalopathy" EXACT [SNOMEDCT_2005_07_31:193049009] +synonym: "Ischaemic encephalopathy" EXACT [SNOMEDCT_2005_07_31:11890005] +synonym: "Ischemic encephalopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:389100007] +xref: MSH:D002545 +xref: SNOMEDCT_US_2015_03_01:11890005 +xref: SNOMEDCT_US_2015_03_01:193049009 +xref: SNOMEDCT_US_2015_03_01:389100007 +xref: UMLS_CUI:C0007786 +is_a: DOID:326 ! ischemia + +[Term] +id: DOID:2320 +name: obstructive lung disease +synonym: "respiratory airway obstruction" EXACT [CSP2005:2596-8463] +xref: MSH:D008173 +xref: UMLS_CUI:C0600260 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:2321 +name: dyspepsia +synonym: "Dyspepsia, indigestion NOS" EXACT [SNOMEDCT_2005_07_31:266505001] +synonym: "indigestion" EXACT [CSP2005:1249-7609] +xref: ICD10CM:K30 +xref: ICD10CM:R10.13 +xref: MSH:D004415 +xref: NCI:C26756 +xref: SNOMEDCT_US_2015_03_01:139299007 +xref: SNOMEDCT_US_2015_03_01:155722007 +xref: SNOMEDCT_US_2015_03_01:162031009 +xref: SNOMEDCT_US_2015_03_01:196752002 +xref: SNOMEDCT_US_2015_03_01:249510006 +xref: SNOMEDCT_US_2015_03_01:266505001 +xref: SNOMEDCT_US_2015_03_01:87548005 +xref: UMLS_CUI:C0013395 +is_a: DOID:1159 ! functional gastric disease + +[Term] +id: DOID:2323 +name: prostate non-neoplastic disease +is_obsolete: true + +[Term] +id: DOID:2324 +name: coxsackie meningitis +def: "An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain." [url:http\://emedicine.medscape.com/article/215241-overview, url:http\://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html#] +synonym: "Coxsackie meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111878007] +synonym: "Coxsackie viral meningitis" EXACT [SNOMEDCT_2005_07_31:186487000] +synonym: "Meningitis due to coxsackie virus" EXACT [ICD9CM_2006:047.0] +is_obsolete: true + +[Term] +id: DOID:2325 +name: enterovirus meningitis +is_obsolete: true + +[Term] +id: DOID:2326 +name: gastroenteritis +alt_id: DOID:4094 +alt_id: DOID:5269 +def: "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html] +synonym: "cholera morbus" EXACT [] +synonym: "infectious colitis, enteritis and gastroenteritis" EXACT [] +xref: ICD10CM:K52.9 +xref: MSH:D005759 +xref: NCI:C34632 +xref: SNOMEDCT_US_2015_03_01:154278002 +xref: SNOMEDCT_US_2015_03_01:197010007 +xref: SNOMEDCT_US_2015_03_01:25374005 +xref: SNOMEDCT_US_2015_03_01:266179001 +xref: UMLS_CUI:C0017160 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:2327 +name: viral gastritis +def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] +synonym: "Viral Gastritis" EXACT [NCI2004_11_17:C27184] +synonym: "Viral gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:285344007] +xref: NCI:C27184 +xref: SNOMEDCT_US_2015_03_01:285344007 +xref: UMLS_CUI:C0563238 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:2328 +name: astrovirus gastroenteritis +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf] +is_obsolete: true + +[Term] +id: DOID:2329 +name: Rotavirus gastroenteritis +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm, url:http\://www.cdc.gov/rotavirus/about_rotavirus.htm] +synonym: "Enteritis due to rotavirus (disorder)" EXACT [SNOMEDCT_2005_07_31:186150001] +synonym: "rotavirus enteritis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:233 +name: ocular tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of eye" EXACT [ICD9CM_2006:017.3] +synonym: "Tuberculosis of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:49107007] +synonym: "Tuberculosis of eye NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186268009] +synonym: "Tuberculosis of eye, unspecified examination" EXACT [ICD9CM_2006:017.30] +is_obsolete: true + +[Term] +id: DOID:2334 +name: metastatic carcinoma +def: "A carcinoma that is able to grow at sites distant from the primary site of origin." [url:http\://en.wikipedia.org/wiki/Metastatic_carcinoma] +synonym: "carcinoma, metastatic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:79282002] +synonym: "carcinoma, metastatic, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189550006] +synonym: "metastatic carcinoma" EXACT [SNOMEDCT_2005_07_31:269624009] +synonym: "metastatic carcinoma" EXACT [SNOMEDCT_2005_07_31:154576004] +is_obsolete: true + +[Term] +id: DOID:2338 +name: mandibular cancer +alt_id: DOID:12408 +def: "A jaw cancer and mandibular disease that affects your lower jawbone." [url:http\://www.ehow.com/facts_5891679_treatment-cancer-mandible.html] +synonym: "malignant neoplasm of inferior maxilla" EXACT [MTHICD9_2006:170.1] +synonym: "malignant neoplasm of lower Jaw bone" EXACT [NCI2004_11_17:C35178] +synonym: "malignant neoplasm of mandible" RELATED [] +synonym: "mandible cancer" EXACT [] +synonym: "mandibular neoplasm" RELATED [] +synonym: "neoplasm of mandible" EXACT [SNOMEDCT_2005_07_31:126551000] +xref: ICD10CM:C41.1 +xref: ICD9CM:170.1 +xref: MSH:D008339 +xref: NCI:C35178 +xref: SNOMEDCT_US_2015_03_01:126551000 +xref: SNOMEDCT_US_2015_03_01:187915001 +xref: SNOMEDCT_US_2015_03_01:448668007 +xref: UMLS_CUI:C0024694 +xref: UMLS_CUI:C0153511 +is_a: DOID:1862 ! jaw cancer + +[Term] +id: DOID:2339 +name: Crouzon syndrome +def: "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." [url:http\://emedicine.medscape.com/article/942989-overview, url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:http\://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, url:http\://www.faces-cranio.org/Disord/Crouzon.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Craniofacial Dysostosis" EXACT [] +synonym: "Crouzon's disease" RELATED [CSP2005:0725-9662] +xref: ICD10CM:Q75.1 +xref: MSH:D003394 +xref: NCI:C84653 +xref: OMIM:123500 +xref: SNOMEDCT_US_2015_03_01:28861008 +xref: UMLS_CUI:C0010273 +is_a: DOID:2340 ! craniosynostosis + +[Term] +id: DOID:234 +name: colon adenocarcinoma +def: "A colon carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of colon" EXACT [SNOMEDCT_2005_07_31:255082000] +synonym: "adenocarcinoma of the colon" RELATED [] +synonym: "Colonic adenocarcinoma" EXACT [NCI2004_11_17:C4349] +xref: NCI:C4349 +xref: SNOMEDCT_US_2015_03_01:255082000 +xref: UMLS_CUI:C0338106 +is_a: DOID:1520 ! colon carcinoma + +[Term] +id: DOID:2340 +name: craniosynostosis +def: "A synostosis that results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Craniosynostosis, url:http\://www.chw.org/display/router.asp?DocID=22502, url:http\://www.mayoclinic.com/health/craniosynostosis/DS00959, url:http\://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001590.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "Premature closure of cranial sutures" EXACT [MTHICD9_2006:756.0] +xref: ICD10CM:Q75.0 +xref: MSH:D003398 +xref: NCI:C84655 +xref: OMIM:123100 +xref: OMIM:182212 +xref: OMIM:600593 +xref: OMIM:600775 +xref: OMIM:604757 +xref: OMIM:615314 +xref: OMIM:615529 +xref: ORDO:1531 +xref: SNOMEDCT_US_2015_03_01:205411004 +xref: SNOMEDCT_US_2015_03_01:205414007 +xref: SNOMEDCT_US_2015_03_01:57219006 +xref: UMLS_CUI:C0010278 +is_a: DOID:11971 ! synostosis + +[Term] +id: DOID:2344 +name: polyclonal hypergammaglobulinemia +synonym: "Polyclonal hypergammaglobulinemia" EXACT [NCI2004_11_17:C35885] +synonym: "Polyclonal hypergammaglobulinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:190808009] +synonym: "Polyclonal hypergammaglobulinemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190811005] +xref: ICD10CM:D89.0 +xref: ICD9CM:273.0 +xref: NCI:C35885 +xref: SNOMEDCT_US_2015_03_01:190808009 +xref: SNOMEDCT_US_2015_03_01:190811005 +xref: UMLS_CUI:C0154254 +is_a: DOID:2345 ! plasma protein metabolism disease + +[Term] +id: DOID:2345 +name: plasma protein metabolism disease +def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction." [url:http\://en.wikipedia.org/wiki/Blood_protein] +xref: ICD9CM:273.8 +xref: SNOMEDCT_US_2015_03_01:190822009 +xref: SNOMEDCT_US_2015_03_01:190825006 +xref: UMLS_CUI:C0029594 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:2346 +name: monoclonal paraproteinemia +synonym: "Monoclonal paraproteinaemia" EXACT [SNOMEDCT_2005_07_31:190812003] +synonym: "Monoclonal Paraproteinemia" EXACT [NCI2004_11_17:C35878] +synonym: "Monoclonal paraproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:267440005] +xref: ICD9CM:273.1 +xref: NCI:C35878 +xref: SNOMEDCT_US_2015_03_01:190812003 +xref: SNOMEDCT_US_2015_03_01:267440005 +xref: UMLS_CUI:C0026471 +is_a: DOID:2345 ! plasma protein metabolism disease + +[Term] +id: DOID:2347 +name: generalized atherosclerosis +synonym: "Generalised atherosclerosis" EXACT [SNOMEDCT_2005_07_31:367108003] +synonym: "Generalized and unspecified atherosclerosis" EXACT [ICD9CM_2006:440.9] +synonym: "Generalized atherosclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:39823006] +xref: ICD10CM:I70.91 +xref: ICD9CM:440.9 +xref: NCI:C35767 +xref: SNOMEDCT_US_2015_03_01:367108003 +xref: SNOMEDCT_US_2015_03_01:39823006 +xref: UMLS_CUI:C0017327 +is_a: DOID:1936 ! atherosclerosis + +[Term] +id: DOID:2348 +name: arteriosclerotic cardiovascular disease +synonym: "Arteriosclerotic Cardiovascular disease" EXACT [NCI2004_11_17:C34403] +synonym: "Arteriosclerotic cardiovascular disease" EXACT [MTHICD9_2006:429.2] +synonym: "Arteriosclerotic cardiovascular disease, NOS" EXACT [SNOMEDCT_2005_07_31:39468009] +synonym: "Atherosclerotic Cardiovascular disease" EXACT [NCI2004_11_17:C35771] +synonym: "Atherosclerotic cardiovascular disease" EXACT [SNOMEDCT_2005_07_31:195251000] +synonym: "Cardiovascular arteriosclerosis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:195121002] +xref: ICD10CM:I25.1 +xref: ICD10CM:I70 +xref: ICD9CM:440 +xref: MSH:D050197 +xref: NCI:C34403 +xref: NCI:C35768 +xref: NCI:C35771 +xref: SNOMEDCT_US_2015_03_01:155382007 +xref: SNOMEDCT_US_2015_03_01:155414001 +xref: SNOMEDCT_US_2015_03_01:194848007 +xref: SNOMEDCT_US_2015_03_01:195121002 +xref: SNOMEDCT_US_2015_03_01:195251000 +xref: SNOMEDCT_US_2015_03_01:266318005 +xref: SNOMEDCT_US_2015_03_01:38716007 +xref: SNOMEDCT_US_2015_03_01:39468009 +xref: UMLS_CUI:C0004153 +xref: UMLS_CUI:C3665365 +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:2349 +name: arteriosclerosis +def: "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." [url:http\://en.wikipedia.org/wiki/Arteriosclerosis] +synonym: "Arteriosclerosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28960008] +synonym: "Arteriosclerosis NOS" EXACT [SNOMEDCT_2005_07_31:155414001] +synonym: "Arteriosclerosis NOS" EXACT [SNOMEDCT_2005_07_31:266318005] +synonym: "Arteriosclerotic vascular disease (disorder)" EXACT [SNOMEDCT_2005_07_31:72092001] +synonym: "Arteriosclerotic vascular disease NOS" EXACT [SNOMEDCT_2005_07_31:155418003] +xref: CSP:0571-2299 +xref: ICD10CM:I70 +xref: MSH:D001161 +xref: NCI:C34398 +xref: SNOMEDCT_US_2015_03_01:107671003 +xref: SNOMEDCT_US_2015_03_01:155414001 +xref: SNOMEDCT_US_2015_03_01:155418003 +xref: SNOMEDCT_US_2015_03_01:195251000 +xref: SNOMEDCT_US_2015_03_01:195257001 +xref: SNOMEDCT_US_2015_03_01:266318005 +xref: SNOMEDCT_US_2015_03_01:28960008 +xref: SNOMEDCT_US_2015_03_01:72092001 +xref: UMLS_CUI:C0003850 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:235 +name: colonic benign neoplasm +def: "An intestinal benign neoplasm that is located_in the colon." [url:http\://en.wikipedia.org/wiki/Benign_tumor] +synonym: "colon neoplasm" EXACT [CSP2005:2010-0360] +synonym: "Colonic Mass" EXACT [NCI2004_11_17:C37904] +synonym: "Colonic tumor" EXACT [NCI2004_11_17:C2953] +synonym: "neoplasm of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:126838000] +xref: MSH:D003110 +xref: NCI:C2953 +xref: NCI:C37904 +xref: SNOMEDCT_US_2015_03_01:126838000 +xref: UMLS_CUI:C0009375 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:2350 +name: iron overload +synonym: "Iron overload (disorder)" EXACT [SNOMEDCT_2005_07_31:60737008] +is_obsolete: true + +[Term] +id: DOID:2351 +name: iron metabolism disease +synonym: "disorder of iron metabolism" EXACT [ICD9CM_2006:275.0] +synonym: "disorder of iron metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:30913008] +synonym: "disorder of iron metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190851008] +synonym: "Iron disorder" EXACT [SNOMEDCT_2005_07_31:267504005] +synonym: "Iron disorder" EXACT [SNOMEDCT_2005_07_31:154751003] +synonym: "iron disorder" EXACT [CSP2005:1630-2859] +xref: ICD10CM:E83.1 +xref: ICD10CM:E83.10 +xref: ICD9CM:275.0 +xref: MSH:D019189 +xref: SNOMEDCT_US_2015_03_01:154751003 +xref: SNOMEDCT_US_2015_03_01:190851008 +xref: SNOMEDCT_US_2015_03_01:267504005 +xref: SNOMEDCT_US_2015_03_01:30913008 +xref: UMLS_CUI:C0012715 +is_a: DOID:0050032 ! mineral metabolism disease + +[Term] +id: DOID:2352 +name: hemochromatosis +def: "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body." [url:http\://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis, url:http\://ghr.nlm.nih.gov/condition/hemochromatosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "diabetes bronze" EXACT [CSP2005:1849-4292] +synonym: "Haemochromatosis" EXACT [SNOMEDCT_2005_07_31:267504005] +synonym: "iron storage disorder" EXACT [CSP2005:1630-3927] +xref: ICD10CM:E83.11 +xref: ICD10CM:E83.110 +xref: ICD10CM:E83.119 +xref: MSH:D006432 +xref: NCI:C84481 +xref: OMIM:231100 +xref: OMIM:235200 +xref: OMIM:602390 +xref: OMIM:604250 +xref: OMIM:606069 +xref: OMIM:613313 +xref: ORDO:139491 +xref: ORDO:139498 +xref: ORDO:225123 +xref: ORDO:79230 +xref: SNOMEDCT_US_2015_03_01:154751003 +xref: SNOMEDCT_US_2015_03_01:267504005 +xref: SNOMEDCT_US_2015_03_01:399144008 +xref: SNOMEDCT_US_2015_03_01:399187006 +xref: SNOMEDCT_US_2015_03_01:86781004 +xref: UMLS_CUI:C0018995 +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:2354 +name: myelophthisic anemia +def: "A myeloma and anemia that is located_in some people with diseases that affect the bone marrow." [url:http\://en.wikipedia.org/wiki/Myelophthisic_anemia] +synonym: "ANEMIA LEUKOERYTHROBLASTIC" EXACT [MTH:NOCODE] +synonym: "Anemia, leukoerythroblastic" EXACT [MTHICD9_2006:285.8] +synonym: "Leukoerythroblastosis" EXACT [NCI2004_11_17:C36218] +synonym: "Myelophthisic anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:2694001] +synonym: "myelophthisis" RELATED [] +xref: ICD10CM:D61.82 +xref: MSH:D000750 +xref: NCI:C36218 +xref: SNOMEDCT_US_2015_03_01:2694001 +xref: UMLS_CUI:C0002890 +is_a: DOID:0070004 ! myeloma +is_a: DOID:12449 ! aplastic anemia + +[Term] +id: DOID:2355 +name: anemia +def: "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells." [url:http\://en.wikipedia.org/wiki/Anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/anemia/] +comment: PRISM. +synonym: "anaemia" EXACT [] +xref: EFO:0004272 +xref: ICD10CM:D64.9 +xref: ICD9CM:285.9 +xref: MSH:D000740 +xref: NCI:C2869 +xref: SNOMEDCT_US_2015_03_01:154786001 +xref: SNOMEDCT_US_2015_03_01:154812000 +xref: SNOMEDCT_US_2015_03_01:191277004 +xref: SNOMEDCT_US_2015_03_01:267531008 +xref: SNOMEDCT_US_2015_03_01:271737000 +xref: SNOMEDCT_US_2015_03_01:64593003 +xref: UMLS_CUI:C0002871 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:2361 +name: macrocytic anemia +synonym: "ANEMIA MACROCYTIC" EXACT [MTH:NOCODE] +synonym: "Macrocytic anaemia of unspecified cause" EXACT [SNOMEDCT_2005_07_31:191151004] +synonym: "Macrocytic anaemia of unspecified cause" EXACT [SNOMEDCT_2005_07_31:191277004] +synonym: "Macrocytic Anemia" EXACT [NCI2004_11_17:C34381] +synonym: "Macrocytic anemia" EXACT [MTHICD9_2006:281.9] +synonym: "Macrocytic anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:83414005] +synonym: "Macrocytic anemia of unspecified cause (disorder)" EXACT [SNOMEDCT_2005_07_31:234356001] +xref: MSH:D000748 +xref: NCI:C34381 +xref: SNOMEDCT_US_2015_03_01:191151004 +xref: SNOMEDCT_US_2015_03_01:191277004 +xref: SNOMEDCT_US_2015_03_01:234356001 +xref: SNOMEDCT_US_2015_03_01:83414005 +xref: UMLS_CUI:C0002886 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:2364 +name: post-thrombotic syndrome +alt_id: DOID:12820 +alt_id: DOID:2363 +alt_id: DOID:2720 +def: "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." [url:http\://en.wikipedia.org/wiki/Post-thrombotic_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/21239797] +synonym: "Postphlebetic syndrome with inflammation" EXACT [] +synonym: "Postphlebetic syndrome with ulcer" EXACT [] +synonym: "Postphlebetic syndrome with ulcer and inflammation" EXACT [] +synonym: "postphlebitic syndrome" EXACT [] +synonym: "venous stress disorder" EXACT [] +xref: ICD10CM:I87.0 +xref: ICD9CM:459.1 +xref: ICD9CM:459.11 +xref: ICD9CM:459.12 +xref: ICD9CM:459.13 +xref: MSH:D011186 +xref: SNOMEDCT_US_2015_03_01:155460004 +xref: SNOMEDCT_US_2015_03_01:20427003 +xref: SNOMEDCT_US_2015_03_01:410013001 +xref: UMLS_CUI:C0032807 +xref: UMLS_CUI:C1135219 +xref: UMLS_CUI:C1135220 +xref: UMLS_CUI:C1135221 +is_a: DOID:10128 ! venous insufficiency + +[Term] +id: DOID:2365 +name: West Nile encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] +subset: zoonotic_infectious_disease +synonym: "West Nile fever encephalitis" EXACT [MTHICD9_2006:066.41] +synonym: "West Nile Fever with encephalitis" EXACT [ICD9CM_2006:066.41] +xref: ICD10CM:A92.31 +xref: ICD9CM:066.41 +xref: MSH:D014901 +xref: SNOMEDCT_US_2015_03_01:392662004 +xref: UMLS_CUI:C0751583 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2366 +name: West Nile fever +def: "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting." [url:http\://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf] +subset: zoonotic_infectious_disease +xref: ICD10CM:A92.3 +xref: ICD10CM:A92.30 +xref: ICD9CM:066.4 +xref: ICD9CM:066.40 +xref: MSH:D014901 +xref: SNOMEDCT_US_2015_03_01:12381007 +xref: SNOMEDCT_US_2015_03_01:417093003 +xref: UMLS_CUI:C0043124 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2367 +name: neuroaxonal dystrophy +synonym: "Neuroaxonal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:230365004] +xref: MSH:D019150 +xref: SNOMEDCT_US_2015_03_01:230365004 +xref: UMLS_CUI:C0338473 +is_a: DOID:1443 ! cerebral degeneration + +[Term] +id: DOID:2368 +name: gangliosidosis +synonym: "mucolipidosis type IV" EXACT [] +xref: ICD10CM:E75.10 +xref: MSH:D005733 +xref: SNOMEDCT_US_2015_03_01:50967008 +xref: UMLS_CUI:C0017083 +is_a: DOID:1927 ! sphingolipidosis + +[Term] +id: DOID:2369 +name: diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations +synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations" EXACT [MTHICD9_2006:250.41] +synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations" EXACT [ICD9CM_2006:250.41] +is_obsolete: true + +[Term] +id: DOID:237 +name: adhesions and disruptions of iris and ciliary body +synonym: "adhesions and disruptions of iris and ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:267624002] +synonym: "adhesions and disruptions of iris and ciliary body NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193526000] +is_obsolete: true + +[Term] +id: DOID:2370 +name: diabetic nephropathy +is_obsolete: true + +[Term] +id: DOID:2373 +name: hereditary elliptocytosis +def: "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." [url:http\://en.wikipedia.org/wiki/Hereditary_elliptocytosis, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Congenital elliptocytosis" EXACT [] +synonym: "ovalocytosis" EXACT [CSP2005:0427-1524] +xref: ICD10CM:D58.1 +xref: ICD9CM:282.1 +xref: MSH:D004612 +xref: NCI:C35882 +xref: NCI:C36293 +xref: OMIM:130600 +xref: OMIM:225450 +xref: OMIM:611804 +xref: ORDO:288 +xref: SNOMEDCT_US_2015_03_01:154801000 +xref: SNOMEDCT_US_2015_03_01:178935009 +xref: SNOMEDCT_US_2015_03_01:191169008 +xref: SNOMEDCT_US_2015_03_01:267558001 +xref: SNOMEDCT_US_2015_03_01:58864003 +xref: UMLS_CUI:C0013902 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:2376 +name: chronic progressive multiple sclerosis +comment: This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS] +synonym: "chronic progressive multiple sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:230373008] +is_obsolete: true + +[Term] +id: DOID:2377 +name: multiple sclerosis +def: "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." [url:http\://en.wikipedia.org/wiki/Multiple_sclerosis] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Generalized multiple sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:192928003] +synonym: "insular sclerosis" EXACT [CSP2005:2042-2324] +xref: EFO:0003885 +xref: ICD10CM:G35 +xref: ICD9CM:340 +xref: MSH:D009103 +xref: NCI:C3243 +xref: OMIM:126200 +xref: OMIM:612594 +xref: OMIM:612595 +xref: OMIM:612596 +xref: OMIM:614810 +xref: SNOMEDCT_US_2015_03_01:155023009 +xref: SNOMEDCT_US_2015_03_01:192928003 +xref: SNOMEDCT_US_2015_03_01:192930001 +xref: SNOMEDCT_US_2015_03_01:24700007 +xref: UMLS_CUI:C0026769 +is_a: DOID:3213 ! demyelinating disease + +[Term] +id: DOID:2378 +name: relapsing-remitting multiple sclerosis +def: "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html] +synonym: "Relapsing-remitting MS" EXACT [] +synonym: "RRMS" EXACT [] +xref: EFO:0003929 +xref: MSH:D020529 +xref: SNOMEDCT_US_2015_03_01:426373005 +xref: UMLS_CUI:C0751967 +is_a: DOID:2377 ! multiple sclerosis + +[Term] +id: DOID:238 +name: pupil disease +synonym: "Pupillary disorder" EXACT [SNOMEDCT_2005_07_31:68633000] +xref: MSH:D011681 +xref: SNOMEDCT_US_2015_03_01:68633000 +xref: UMLS_CUI:C0034124 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:2381 +name: Vibrio cholerae O1 biovar El Tor cholera +alt_id: DOID:0050005 +def: "A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent] +subset: gram-negative_bacterial_infectious_disease +synonym: "cholera due to Vibrio cholerae 01 biovar cholerae" EXACT [] +synonym: "Cholera due to Vibrio cholerae 01, biovar el tor" RELATED [] +synonym: "Cholera due to Vibrio cholerae el tor" EXACT [ICD9CM_2006:001.1] +synonym: "Cholera due to Vibrio cholerae El Tor (disorder)" EXACT [SNOMEDCT_2005_07_31:81020007] +synonym: "Vibrio cholerae 01 biovar cholerae cholera" EXACT [] +synonym: "Vibrio cholerae biovar El Tor cholera" EXACT [] +synonym: "Vibrio cholerae el tor cholera" EXACT [] +synonym: "Vibrio cholerae O1 biovar eltor cholera" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2382 +name: kernicterus +synonym: "bilirubin encephalopathy" EXACT [CSP2005:1653-7303] +synonym: "Kernicterus of newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:50143004] +synonym: "Kernicterus of newborn NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:206479002] +xref: ICD10CM:P57 +xref: ICD10CM:P57.9 +xref: MSH:D007647 +xref: NCI:C84799 +xref: SNOMEDCT_US_2015_03_01:157135006 +xref: SNOMEDCT_US_2015_03_01:206479002 +xref: SNOMEDCT_US_2015_03_01:230770008 +xref: SNOMEDCT_US_2015_03_01:268880009 +xref: SNOMEDCT_US_2015_03_01:50143004 +xref: SNOMEDCT_US_2015_03_01:74925009 +xref: UMLS_CUI:C0022610 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:2383 +name: neonatal jaundice +def: "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." [url:http\://en.wikipedia.org/wiki/Neonatal_jaundice, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001559.htm] +synonym: "neonatal hyperbilirubinemia" EXACT [] +synonym: "neonatal icterus" EXACT [] +xref: ICD10CM:P59.9 +xref: MSH:D007567 +xref: NCI:C99246 +xref: SNOMEDCT_US_2015_03_01:111470007 +xref: SNOMEDCT_US_2015_03_01:206474007 +xref: SNOMEDCT_US_2015_03_01:276549000 +xref: SNOMEDCT_US_2015_03_01:299968002 +xref: SNOMEDCT_US_2015_03_01:30235009 +xref: SNOMEDCT_US_2015_03_01:31482007 +xref: SNOMEDCT_US_2015_03_01:387712008 +xref: UMLS_CUI:C0022353 +is_a: DOID:10123 ! pigmentation disease + +[Term] +id: DOID:2384 +name: Wernicke encephalopathy +synonym: "Wernicke's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:21007002] +synonym: "Wernicke's encephalopathy" EXACT [SNOMEDCT_2005_07_31:190626005] +xref: ICD10CM:E51.2 +xref: MSH:D014899 +xref: SNOMEDCT_US_2015_03_01:190626005 +xref: SNOMEDCT_US_2015_03_01:190627001 +xref: SNOMEDCT_US_2015_03_01:21007002 +xref: UMLS_CUI:C0043121 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:2385 +name: thiamine deficiency +synonym: "Thiamin deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:35843007] +synonym: "Thiamin deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:399357009] +synonym: "Thiamine deficiency" EXACT [SNOMEDCT_2005_07_31:154725000] +synonym: "Thiamine deficiency" EXACT [SNOMEDCT_2005_07_31:267491008] +synonym: "thiamine deficiency" EXACT [CSP2005:2116-7354] +synonym: "Thiamine deficiency, unspecified" EXACT [SNOMEDCT_2005_07_31:190628006] +synonym: "Thiamine deficiency, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:191088004] +synonym: "vitamin B1 deficiency" EXACT [SNOMEDCT_2005_07_31:190624008] +is_obsolete: true + +[Term] +id: DOID:2388 +name: renal artery disease +synonym: "renal vascular disease" EXACT [] +synonym: "vascular disorder of kidney" EXACT [ICD9CM_2006:593.81] +xref: ICD9CM:593.81 +xref: NCI:C35338 +xref: SNOMEDCT_US_2015_03_01:16934004 +xref: SNOMEDCT_US_2015_03_01:197814004 +xref: SNOMEDCT_US_2015_03_01:266559003 +xref: UMLS_CUI:C0268790 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:2389 +name: fibromuscular dysplasia +synonym: "Fibromuscular dysplasia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:31653004] +synonym: "Fibromuscular hyperplasia of arteries NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195370007] +synonym: "Fibromuscular hyperplasia of artery" EXACT [SNOMEDCT_2005_07_31:195371006] +synonym: "Fibromuscular hyperplasia of artery (disorder)" EXACT [SNOMEDCT_2005_07_31:359553002] +synonym: "Fibromuscular hyperplasia of artery [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:234023007] +is_obsolete: true + +[Term] +id: DOID:239 +name: iridodialysis +synonym: "coredialysis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2392 +name: glandular cystitis +synonym: "cystitis glandularis" RELATED [] +xref: NCI:C39860 +xref: SNOMEDCT_US_2015_03_01:72815004 +xref: UMLS_CUI:C0268837 +is_a: DOID:1680 ! chronic cystitis + +[Term] +id: DOID:2394 +name: ovarian cancer +alt_id: DOID:0060070 +alt_id: DOID:2144 +alt_id: DOID:9595 +def: "A female reproductive organ cancer that is located_in the ovary." [url:http\://www.cancer.gov/dictionary?CdrID=445074] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "malignant Ovarian tumor" EXACT [NCI2004_11_17:C7431] +synonym: "malignant tumour of ovary" EXACT [SNOMEDCT_2005_07_31:154528000] +synonym: "ovarian neoplasm" EXACT [MTH:NOCODE] +synonym: "ovary neoplasm" EXACT [CSP2005:2016-1387] +synonym: "primary ovarian cancer" EXACT [] +synonym: "tumor of the Ovary" EXACT [NCI2004_11_17:C4984] +xref: ICD10CM:C56 +xref: ICD9CM:183.0 +xref: MSH:D010051 +xref: NCI:C4984 +xref: NCI:C7431 +xref: OMIM:167000 +xref: OMIM:607893 +xref: ORDO:213517 +xref: SNOMEDCT_US_2015_03_01:123843001 +xref: SNOMEDCT_US_2015_03_01:154528000 +xref: SNOMEDCT_US_2015_03_01:363443007 +xref: SNOMEDCT_US_2015_03_01:372117006 +xref: SNOMEDCT_US_2015_03_01:93934004 +xref: UMLS_CUI:C0919267 +xref: UMLS_CUI:C1140680 +xref: UMLS_CUI:C1299247 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:2399 +name: ovarian clear cell neoplasm +synonym: "Clear cell tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254853007] +is_obsolete: true + +[Term] +id: DOID:240 +name: iris disease +synonym: "disorder of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:85478004] +synonym: "Iris disorder" EXACT [SNOMEDCT_2005_07_31:155116005] +synonym: "Iris disorder" EXACT [NCI2004_11_17:C34737] +synonym: "Iris disorder" EXACT [SNOMEDCT_2005_07_31:267719008] +xref: MSH:D007499 +xref: NCI:C34737 +xref: SNOMEDCT_US_2015_03_01:155116005 +xref: SNOMEDCT_US_2015_03_01:267719008 +xref: SNOMEDCT_US_2015_03_01:85478004 +xref: UMLS_CUI:C0022078 +is_a: DOID:3480 ! uveal disease + +[Term] +id: DOID:2401 +name: clitoris cancer +alt_id: DOID:2400 +synonym: "carcinoma of Clitoris" EXACT [NCI2004_11_17:C9362] +synonym: "Clitoral Ca" EXACT [SNOMEDCT_2005_07_31:269604005] +synonym: "Clitoral Ca" EXACT [SNOMEDCT_2005_07_31:154535008] +synonym: "Clitoral Ca" EXACT [SNOMEDCT_2005_07_31:188213003] +synonym: "Clitoral Ca" EXACT [SNOMEDCT_2005_07_31:93758009] +synonym: "clitoral cancer" EXACT [] +synonym: "malignant neoplasm of clitoris (disorder)" EXACT [SNOMEDCT_2005_07_31:371979001] +synonym: "malignant tumor of Clitoris" EXACT [NCI2004_11_17:C3557] +xref: ICD10CM:C51.2 +xref: ICD9CM:184.3 +xref: NCI:C3557 +xref: NCI:C9362 +xref: SNOMEDCT_US_2015_03_01:154535008 +xref: SNOMEDCT_US_2015_03_01:188213003 +xref: SNOMEDCT_US_2015_03_01:269604005 +xref: SNOMEDCT_US_2015_03_01:371979001 +xref: SNOMEDCT_US_2015_03_01:93758009 +xref: UMLS_CUI:C0153589 +xref: UMLS_CUI:C1333070 +is_a: DOID:1245 ! vulva cancer + +[Term] +id: DOID:2402 +name: lymphangiectasis +synonym: "Lymphangiectases (disorder)" EXACT [SNOMEDCT_2005_07_31:238801004] +synonym: "Lymphangiectasis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:48087001] +is_obsolete: true + +[Term] +id: DOID:2409 +name: rhinosporidiosis +def: "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." [url:http\://emedicine.medscape.com/article/227734-overview] +synonym: "Infection by Rhinosporidium seeberi" EXACT [MTHICD9_2006:117.0] +synonym: "Rhinosporidiosis (disorder)" EXACT [SNOMEDCT_2005_07_31:18140003] +xref: ICD10CM:B48.1 +xref: ICD9CM:117.0 +xref: MSH:D012227 +xref: SNOMEDCT_US_2015_03_01:18140003 +xref: UMLS_CUI:C0035469 +is_a: DOID:0050291 ! parasitic Ichthyosporea infectious disease + +[Term] +id: DOID:2410 +name: skin granular cell tumor +synonym: "granular cell neoplasm of the skin" EXACT [NCI2004_11_17:C5617] +synonym: "granular cell tumor of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254763007] +xref: NCI:C5617 +xref: SNOMEDCT_US_2015_03_01:254763007 +xref: UMLS_CUI:C0346060 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2411 +name: granular cell tumor +synonym: "granular cell tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404035005] +synonym: "granular cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12169001] +synonym: "granular cell tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189954007] +synonym: "neoplasm of granular cell" EXACT [NCI2004_11_17:C3474] +xref: MSH:D016586 +xref: NCI:C3474 +xref: SNOMEDCT_US_2015_03_01:12169001 +xref: SNOMEDCT_US_2015_03_01:189954007 +xref: SNOMEDCT_US_2015_03_01:404035005 +xref: UMLS_CUI:C0085167 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2412 +name: skin tumor of neural origin +synonym: "neural tumor of the skin" EXACT [NCI2004_11_17:C4479] +synonym: "skin tumor of neural origin (disorder)" EXACT [SNOMEDCT_2005_07_31:254758008] +is_obsolete: true + +[Term] +id: DOID:2413 +name: epithelioid and spindle cell nevus +synonym: "epithelioid and spindle cell nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:254811006] +synonym: "Pigmented spindle cell naevus of Reed" EXACT [SNOMEDCT_2005_07_31:88082008] +synonym: "Spitz (spindle cell) nevus" EXACT [NCI2004_11_17:C27007] +is_obsolete: true + +[Term] +id: DOID:2415 +name: benign skin melanocytic nevus +alt_id: DOID:191 +alt_id: DOID:2418 +alt_id: DOID:5901 +synonym: "benign melanocytic naevus" EXACT [SNOMEDCT_2005_07_31:253037001] +synonym: "benign melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:254801004] +synonym: "benign melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:247457003] +synonym: "benign melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:400010006] +synonym: "benign melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:189086004] +synonym: "benign melanocytic nevus" EXACT [NCI2004_11_17:C7571] +synonym: "benign melanoma" EXACT [SNOMEDCT_2005_07_31:21119008] +synonym: "benign nevus of skin" EXACT [SNOMEDCT_2005_07_31:109265005] +synonym: "benign nevus of skin" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "cutaneous melanocytic neoplasm" EXACT [] +synonym: "Magnocellular nevus" EXACT [NCI2004_11_17:C4230] +synonym: "Magnocellular nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26325004] +synonym: "melanocytic neoplasm" EXACT [NCI2004_11_17:C7058] +synonym: "melanocytic neoplasm (disorder)" EXACT [SNOMEDCT_2005_07_31:399956005] +synonym: "melanocytic neoplasm of skin" EXACT [NCI2004_11_17:C7161] +synonym: "melanocytic tumor of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:276728004] +synonym: "melanocytoma" EXACT [] +synonym: "Naevus - benign" EXACT [SNOMEDCT_2005_07_31:154613008] +synonym: "Naevus - benign" EXACT [SNOMEDCT_2005_07_31:269639005] +is_obsolete: true + +[Term] +id: DOID:2417 +name: melanocytic nevus +synonym: "melanocytic naevi, unspecified" EXACT [SNOMEDCT_2005_07_31:189096008] +synonym: "melanocytic nevi, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190213002] +synonym: "melanocytic nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:109265005] +synonym: "melanocytic nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:400096001] +synonym: "melanocytic nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:400010006] +synonym: "Melanotic nevus" EXACT [NCI2004_11_17:C7570] +synonym: "mole (skin)" EXACT [CSP2005:0727-0083] +synonym: "NEVI PIGMENTED" EXACT [MTH:NOCODE] +synonym: "Pigmented naevus" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "Pigmented naevus NOS" EXACT [SNOMEDCT_2005_07_31:276499003] +synonym: "Pigmented nevus" EXACT [NCI2004_11_17:C27816] +synonym: "Pigmented nevus, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21119008] +synonym: "Sutton's naevus" EXACT [SNOMEDCT_2005_07_31:398028009] +synonym: "Sutton's naevus" EXACT [SNOMEDCT_2005_07_31:307602007] +is_obsolete: true + +[Term] +id: DOID:2421 +name: skin fibrous tissue neoplasm +synonym: "Cutaneous fibrous tissue neoplasm" EXACT [NCI2004_11_17:C4634] +synonym: "fibrous tissue tumor of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254736006] +is_obsolete: true + +[Term] +id: DOID:2423 +name: halo nevus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HALO NEVI" EXACT [] +synonym: "Halo nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:307602007] +synonym: "Halo nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:398028009] +synonym: "Halo nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:78325005] +synonym: "HN" EXACT [NCI2004_11_17:C7602] +is_obsolete: true + +[Term] +id: DOID:2424 +name: intradermal nevus +synonym: "Dermal cellular nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:302838006] +synonym: "Dermal nevus" EXACT [NCI2004_11_17:C3804] +synonym: "Intradermal nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112681002] +is_obsolete: true + +[Term] +id: DOID:2425 +name: cutaneous ganglioneuroma +synonym: "Cutaneous Ganglioneuroma" EXACT [NCI2004_11_17:C4481] +synonym: "Ganglioneuroma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254766004] +xref: NCI:C4481 +xref: SNOMEDCT_US_2015_03_01:254766004 +xref: UMLS_CUI:C0346063 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2426 +name: gangliocytoma +xref: MSH:D005729 +xref: NCI:C3049 +xref: NCI:C6934 +xref: SNOMEDCT_US_2015_03_01:128919000 +xref: SNOMEDCT_US_2015_03_01:189929007 +xref: SNOMEDCT_US_2015_03_01:53801007 +xref: UMLS_CUI:C0017075 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:2430 +name: skin glomus tumor +synonym: "Glomus skin neoplasm" EXACT [NCI2004_11_17:C4491] +synonym: "Glomus tumor of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254795008] +xref: NCI:C4491 +xref: SNOMEDCT_US_2015_03_01:254795008 +xref: UMLS_CUI:C0346083 +is_a: DOID:2431 ! glomus tumor + +[Term] +id: DOID:2431 +name: glomus tumor +def: "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body." [url:www.iarc.fr/en/publications/pdfs-online/pat-gen/bb5/bb5-chap5.pdf] +subset: DO_cancer_slim +synonym: "Glomus neoplasm" EXACT [NCI2004_11_17:C3060] +synonym: "Glomus tumour" EXACT [SNOMEDCT_2005_07_31:393567008] +xref: MSH:D005918 +xref: NCI:C3060 +xref: SNOMEDCT_US_2015_03_01:10438002 +xref: SNOMEDCT_US_2015_03_01:189193002 +xref: SNOMEDCT_US_2015_03_01:393567008 +xref: SNOMEDCT_US_2015_03_01:403969002 +xref: UMLS_CUI:C0017653 +is_a: DOID:3850 ! hemangiopericytic tumor + +[Term] +id: DOID:2433 +name: epidermal appendage tumor +synonym: "neoplasm of skin with adnexal differentiation (disorder)" EXACT [SNOMEDCT_2005_07_31:126489007] +synonym: "neoplasm of the skin Appendage" EXACT [NCI2004_11_17:C4463] +synonym: "skin appendage tumour" EXACT [SNOMEDCT_2005_07_31:55681005] +xref: NCI:C4463 +xref: SNOMEDCT_US_2015_03_01:126489007 +xref: SNOMEDCT_US_2015_03_01:55681005 +xref: UMLS_CUI:C0345988 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2434 +name: intraepidermal nevus +synonym: "Junctional melanocytic nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254802006] +synonym: "Junctional nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30494009] +synonym: "Junctional nevus of the skin" EXACT [NCI2004_11_17:C4231] +is_obsolete: true + +[Term] +id: DOID:2435 +name: skin glomangioma +synonym: "Cutaneous Glomangioma" EXACT [NCI2004_11_17:C6750] +synonym: "Glomangioma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:403970001] +xref: NCI:C6750 +xref: SNOMEDCT_US_2015_03_01:403970001 +xref: UMLS_CUI:C1275226 +is_a: DOID:2436 ! glomangioma + +[Term] +id: DOID:2436 +name: glomangioma +xref: MSH:D005918 +xref: NCI:C4222 +xref: SNOMEDCT_US_2015_03_01:7429002 +xref: UMLS_CUI:C0334421 +is_a: DOID:5238 ! benign perivascular tumor + +[Term] +id: DOID:2437 +name: skin compound nevus +synonym: "compound nevus" EXACT [NCI2004_11_17:C3901] +synonym: "Compound nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:49409001] +synonym: "Compound nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254805008] +is_obsolete: true + +[Term] +id: DOID:2438 +name: dermis tumor +synonym: "neoplasm of Dermis" EXACT [NCI2004_11_17:C4475] +synonym: "tumor of dermis (disorder)" EXACT [SNOMEDCT_2005_07_31:254735005] +xref: NCI:C4475 +xref: SNOMEDCT_US_2015_03_01:254735005 +xref: UMLS_CUI:C0346041 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2441 +name: frontal sinus squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Frontal sinus" EXACT [NCI2004_11_17:C6067] +xref: NCI:C6067 +xref: UMLS_CUI:C1333646 +is_a: DOID:1360 ! frontal sinus cancer + +[Term] +id: DOID:2444 +name: hyperpituitarism +xref: MSH:D006964 +xref: SNOMEDCT_US_2015_03_01:10649000 +xref: SNOMEDCT_US_2015_03_01:154698000 +xref: SNOMEDCT_US_2015_03_01:267480001 +xref: UMLS_CUI:C0020506 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:2446 +name: gigantism +synonym: "Anterior pituitary hyperfunction" EXACT [SNOMEDCT_2005_07_31:154698000] +synonym: "Pituitary gigantism" EXACT [SNOMEDCT_2005_07_31:86073008] +is_obsolete: true + +[Term] +id: DOID:2449 +name: acromegaly +def: "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb." [url:http\://en.wikipedia.org/wiki/Acromegaly, url:http\://www.acromegaly.org/, url:http\://www.mayoclinic.com/health/acromegaly/DS00478, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000321.htm, url:http\://www.umm.edu/endocrin/acromegaly.htm] +xref: MSH:D000172 +xref: NCI:C84533 +xref: SNOMEDCT_US_2015_03_01:154698000 +xref: SNOMEDCT_US_2015_03_01:267480001 +xref: SNOMEDCT_US_2015_03_01:74107003 +xref: UMLS_CUI:C0001206 +is_a: DOID:2444 ! hyperpituitarism + +[Term] +id: DOID:2450 +name: central retinal vein occlusion +synonym: "central retinal vein occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:68478007] +xref: ICD10CM:H34.81 +xref: ICD9CM:362.35 +xref: SNOMEDCT_US_2015_03_01:193378003 +xref: SNOMEDCT_US_2015_03_01:68478007 +xref: UMLS_CUI:C0154841 +is_a: DOID:1729 ! retinal vascular occlusion + +[Term] +id: DOID:2451 +name: protein S deficiency +synonym: "Protein S deficiency" EXACT [MTHICD9_2006:289.81] +synonym: "Protein S deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:1563006] +xref: ICD10CM:D68.59 +xref: MSH:D018455 +xref: NCI:C99026 +xref: SNOMEDCT_US_2015_03_01:1563006 +xref: UMLS_CUI:C0242666 +is_a: DOID:2452 ! thrombophilia +is_a: DOID:620 ! blood protein disease + +[Term] +id: DOID:2452 +name: thrombophilia +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "hypercoagulability state (finding)" EXACT [SNOMEDCT_2005_07_31:76612001] +synonym: "Thrombophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:234467004] +xref: ICD10CM:D68.59 +xref: MSH:D019851 +xref: NCI:C84479 +xref: OMIM:188050 +xref: SNOMEDCT_US_2015_03_01:191302007 +xref: SNOMEDCT_US_2015_03_01:234467004 +xref: SNOMEDCT_US_2015_03_01:76612001 +xref: UMLS_CUI:C0398623 +is_a: DOID:1247 ! blood coagulation disease + +[Term] +id: DOID:2455 +name: angular blepharoconjunctivitis +def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." [url:http\://dro.hs.columbia.edu/angbleph.htm] +synonym: "Angular blepharoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:69397000] +xref: ICD10CM:H10.52 +xref: ICD9CM:372.21 +xref: SNOMEDCT_US_2015_03_01:193871000 +xref: SNOMEDCT_US_2015_03_01:69397000 +xref: UMLS_CUI:C0155149 +is_a: DOID:2456 ! blepharoconjunctivitis + +[Term] +id: DOID:2456 +name: blepharoconjunctivitis +def: "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis." [url:http\://en.wikipedia.org/wiki/Conjunctivitis] +synonym: "Blepharoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:68659002] +synonym: "Blepharoconjunctivitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193873002] +synonym: "Blepharoconjunctivitis, unspecified" EXACT [ICD9CM_2006:372.20] +synonym: "Unspecified blepharoconjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:193870004] +xref: ICD10CM:H10.5 +xref: ICD10CM:H10.50 +xref: ICD9CM:372.2 +xref: ICD9CM:372.20 +xref: NCI:C34430 +xref: SNOMEDCT_US_2015_03_01:155164001 +xref: SNOMEDCT_US_2015_03_01:193870004 +xref: SNOMEDCT_US_2015_03_01:193873002 +xref: SNOMEDCT_US_2015_03_01:68659002 +xref: UMLS_CUI:C0005743 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:2457 +name: giant papillary conjunctivitis +synonym: "Giant Papillary Conjunctivitis" EXACT [NCI2004_11_17:C34507] +synonym: "Giant papillary conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:231857004] +xref: MSH:D003233 +xref: NCI:C34507 +xref: SNOMEDCT_US_2015_03_01:231857004 +xref: UMLS_CUI:C0009769 +is_a: DOID:2456 ! blepharoconjunctivitis +is_a: DOID:2458 ! papillary conjunctivitis + +[Term] +id: DOID:2458 +name: papillary conjunctivitis +synonym: "Papillary conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:416878008] +xref: NCI:C35616 +xref: SNOMEDCT_US_2015_03_01:416878008 +xref: UMLS_CUI:C0854165 +is_a: DOID:6195 ! conjunctivitis + +[Term] +id: DOID:2460 +name: anterior dislocation of lens +synonym: "Anterior dislocation of lens (disorder)" EXACT [SNOMEDCT_2005_07_31:37283009] +xref: ICD10CM:H27.12 +xref: ICD9CM:379.33 +xref: SNOMEDCT_US_2015_03_01:194160006 +xref: SNOMEDCT_US_2015_03_01:37283009 +xref: UMLS_CUI:C0155372 +is_a: DOID:1242 ! globe disease + +[Term] +id: DOID:2462 +name: retinal vascular disease +synonym: "retina circulation disorder" EXACT [CSP2005:1114-7471] +xref: NCI:C35170 +xref: SNOMEDCT_US_2015_03_01:57534004 +xref: UMLS_CUI:C0154833 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:2467 +name: reactive confusion +synonym: "Psychogenic confusion" EXACT [SNOMEDCT_2005_07_31:280943007] +synonym: "Psychogenic twilight state" EXACT [MTHICD9_2006:298.2] +is_obsolete: true + +[Term] +id: DOID:2468 +name: psychotic disorder +def: "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality." [url:http\://www.nlm.nih.gov/medlineplus/psychoticdisorders.html] +synonym: "mental or behavioural disorder" EXACT [] +xref: EFO:0000677 +xref: ICD9CM:298.8 +xref: UMLS_CUI:C0029516 +is_a: DOID:1561 ! cognitive disorder + +[Term] +id: DOID:2469 +name: swine erysipelas +subset: gram-positive_bacterial_infectious_disease +synonym: "Erysipelas in swine" EXACT [SNOMEDCT_2005_07_31:37122007] +is_obsolete: true + +[Term] +id: DOID:2470 +name: Erysipelothrix infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Erysipeloid (disorder)" EXACT [SNOMEDCT_2005_07_31:186322009] +synonym: "Erysipelothrix disease (disorder)" EXACT [SNOMEDCT_2005_07_31:367434002] +synonym: "Seal finger (disorder)" EXACT [SNOMEDCT_2005_07_31:238455005] +is_obsolete: true + +[Term] +id: DOID:2471 +name: Erysipelothrix rhusiopathiae infectious disease +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Infection due to E. rhusiopathiae" EXACT [MTHICD9_2006:027.1] +synonym: "Infection due to Erysipelothrix rhusiopathiae" EXACT [SNOMEDCT_2005_07_31:266005008] +is_obsolete: true + +[Term] +id: DOID:2473 +name: opportunistic mycosis +alt_id: DOID:0050137 +def: "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices." [url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] +synonym: "Opportunistic mycoses (disorder)" EXACT [SNOMEDCT_2005_07_31:187108005] +synonym: "Opportunistic mycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:78999002] +synonym: "opportunistic systemic mycoses" EXACT [] +xref: ICD9CM:118 +xref: SNOMEDCT_US_2015_03_01:187108005 +xref: SNOMEDCT_US_2015_03_01:78999002 +xref: UMLS_CUI:C0029119 +is_a: DOID:0050136 ! systemic mycosis + +[Term] +id: DOID:2474 +name: vernal conjunctivitis +synonym: "Vernal Conjunctivitis" EXACT [NCI2004_11_17:C34508] +synonym: "Vernal conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193774003] +synonym: "Vernal conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193867003] +synonym: "Vernal conjunctivitis" EXACT [ICD9CM_2006:372.13] +synonym: "Vernal conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:318316003] +synonym: "Vernal conjunctivitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:20212001] +xref: ICD10CM:H10.44 +xref: ICD9CM:372.13 +xref: MSH:D003233 +xref: NCI:C34508 +xref: SNOMEDCT_US_2015_03_01:193774003 +xref: SNOMEDCT_US_2015_03_01:193867003 +xref: SNOMEDCT_US_2015_03_01:20212001 +xref: SNOMEDCT_US_2015_03_01:318316003 +xref: UMLS_CUI:C0009773 +is_a: DOID:2475 ! chronic conjunctivitis + +[Term] +id: DOID:2475 +name: chronic conjunctivitis +synonym: "chronic Conjunctivitis" EXACT [NCI2004_11_17:C35197] +synonym: "chronic conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:73762008] +synonym: "chronic conjunctivitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193869000] +synonym: "chronic conjunctivitis, unspecified" EXACT [ICD9CM_2006:372.10] +synonym: "Unspecified chronic conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:193865006] +xref: ICD10CM:H10.4 +xref: ICD10CM:H10.40 +xref: ICD9CM:372.1 +xref: ICD9CM:372.10 +xref: NCI:C35197 +xref: SNOMEDCT_US_2015_03_01:155163007 +xref: SNOMEDCT_US_2015_03_01:193865006 +xref: SNOMEDCT_US_2015_03_01:193869000 +xref: SNOMEDCT_US_2015_03_01:73762008 +xref: UMLS_CUI:C0155145 +is_a: DOID:6195 ! conjunctivitis + +[Term] +id: DOID:2476 +name: hereditary spastic paraplegia +def: "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." [url:http\://en.wikipedia.org/wiki/Familial_spastic_paraplegia] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial spastic paraplegia" EXACT [] +synonym: "HSMN V" EXACT [SNOMEDCT_2005_07_31:76043009] +synonym: "spastic paraplegia" RELATED [] +xref: ICD10CM:G11.4 +xref: ICD9CM:334.1 +xref: MSH:D015419 +xref: OMIM:182600 +xref: OMIM:182601 +xref: OMIM:270685 +xref: OMIM:270700 +xref: OMIM:270750 +xref: OMIM:270800 +xref: OMIM:275900 +xref: OMIM:300266 +xref: OMIM:300750 +xref: OMIM:312920 +xref: OMIM:600146 +xref: OMIM:600363 +xref: OMIM:601162 +xref: OMIM:603563 +xref: OMIM:604187 +xref: OMIM:604360 +xref: OMIM:604805 +xref: OMIM:605229 +xref: OMIM:605280 +xref: OMIM:607152 +xref: OMIM:607259 +xref: OMIM:607584 +xref: OMIM:608220 +xref: OMIM:609041 +xref: OMIM:609195 +xref: OMIM:609340 +xref: OMIM:609727 +xref: OMIM:610244 +xref: OMIM:610250 +xref: OMIM:610357 +xref: OMIM:611225 +xref: OMIM:611252 +xref: OMIM:611945 +xref: OMIM:612020 +xref: OMIM:612319 +xref: OMIM:612335 +xref: OMIM:612539 +xref: OMIM:612936 +xref: OMIM:613096 +xref: OMIM:613162 +xref: OMIM:613206 +xref: OMIM:613364 +xref: OMIM:613647 +xref: OMIM:613744 +xref: OMIM:614066 +xref: OMIM:614067 +xref: OMIM:614409 +xref: OMIM:614898 +xref: OMIM:615030 +xref: OMIM:615031 +xref: OMIM:615033 +xref: OMIM:615035 +xref: OMIM:615043 +xref: OMIM:615625 +xref: OMIM:615658 +xref: OMIM:615683 +xref: OMIM:615685 +xref: OMIM:615686 +xref: SNOMEDCT_US_2015_03_01:155013000 +xref: SNOMEDCT_US_2015_03_01:267692008 +xref: SNOMEDCT_US_2015_03_01:39912006 +xref: SNOMEDCT_US_2015_03_01:76043009 +xref: UMLS_CUI:C0037773 +is_a: DOID:607 ! paraplegia + +[Term] +id: DOID:2477 +name: motor peripheral neuropathy +synonym: "Hereditary motor and sensory neuropathy" EXACT [SNOMEDCT_2005_07_31:155081008] +synonym: "Hereditary motor and sensory neuropathy" EXACT [SNOMEDCT_2005_07_31:193160003] +synonym: "Hereditary motor and sensory neuropathy [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193161004] +synonym: "HSMN" EXACT [SNOMEDCT_2005_07_31:398100001] +synonym: "HSMN" EXACT [SNOMEDCT_2005_07_31:128202008] +synonym: "HSMN - Hereditary sensory and motor neuropathy" EXACT [SNOMEDCT_2005_07_31:193158000] +synonym: "Neuropathic muscular atrophy" EXACT [SNOMEDCT_2005_07_31:50548001] +synonym: "Neuropathic muscular atrophy" EXACT [MTHICD9_2006:356.1] +synonym: "neuropathic muscular atrophy" EXACT [CSP2005:2042-7637] +xref: ICD10CM:G60.0 +xref: MSH:D015417 +xref: NCI:C75467 +xref: SNOMEDCT_US_2015_03_01:128202008 +xref: SNOMEDCT_US_2015_03_01:155081008 +xref: SNOMEDCT_US_2015_03_01:193158000 +xref: SNOMEDCT_US_2015_03_01:193160003 +xref: SNOMEDCT_US_2015_03_01:193161004 +xref: SNOMEDCT_US_2015_03_01:398100001 +xref: UMLS_CUI:C0027888 +is_a: DOID:0060053 ! peripheral neuropathy + +[Term] +id: DOID:2479 +name: central nervous system origin vertigo +synonym: "central vestibular vertigo" EXACT [SNOMEDCT_2005_07_31:20425006] +synonym: "Vertigo of central origin" EXACT [ICD9CM_2006:386.2] +synonym: "Vertigo of central origin (disorder)" EXACT [SNOMEDCT_2005_07_31:38403006] +synonym: "Vertigo of central origin NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194362009] +xref: ICD10CM:H81.4 +xref: ICD10CM:H81.49 +xref: ICD9CM:386.2 +xref: MSH:D014717 +xref: SNOMEDCT_US_2015_03_01:194362009 +xref: SNOMEDCT_US_2015_03_01:20425006 +xref: SNOMEDCT_US_2015_03_01:38403006 +xref: UMLS_CUI:C0155503 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:248 +name: trachea leiomyoma +alt_id: DOID:246 +synonym: "leiomyoma of the Trachea" EXACT [NCI2004_11_17:C6049] +synonym: "neoplasm of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:126703006] +synonym: "trachea neoplasm" EXACT [CSP2005:2017-6768] +synonym: "tracheal neoplasm" EXACT [] +synonym: "Tracheal tumor" EXACT [NCI2004_11_17:C3419] +xref: MSH:D014134 +xref: NCI:C3419 +xref: NCI:C6049 +xref: SNOMEDCT_US_2015_03_01:126703006 +xref: UMLS_CUI:C0040582 +xref: UMLS_CUI:C1336772 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:2481 +name: infantile epileptic encephalopathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "infantile spasm" EXACT [] +xref: ICD10CM:G40.82 +xref: ICD9CM:345.6 +xref: MSH:D013036 +xref: NCI:C84788 +xref: OMIM:300088 +xref: OMIM:300607 +xref: OMIM:300672 +xref: OMIM:607208 +xref: OMIM:609304 +xref: OMIM:612164 +xref: OMIM:613402 +xref: OMIM:613477 +xref: OMIM:613720 +xref: OMIM:613721 +xref: OMIM:613722 +xref: SNOMEDCT_US_2015_03_01:155042008 +xref: SNOMEDCT_US_2015_03_01:193014002 +xref: SNOMEDCT_US_2015_03_01:193015001 +xref: SNOMEDCT_US_2015_03_01:193016000 +xref: SNOMEDCT_US_2015_03_01:28055006 +xref: SNOMEDCT_US_2015_03_01:288197007 +xref: UMLS_CUI:C0037769 +is_a: DOID:1827 ! idiopathic generalized epilepsy + +[Term] +id: DOID:2485 +name: phosphorus metabolism disease +synonym: "disorder of phosphorus metabolism" EXACT [ICD9CM_2006:275.3] +synonym: "disorder of phosphorus metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:87049008] +synonym: "disorder of phosphorus metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:190858002] +synonym: "disorder of phosphorus metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190862008] +synonym: "Phosphorus disorder" EXACT [SNOMEDCT_2005_07_31:154752005] +synonym: "Phosphorus disorder" EXACT [SNOMEDCT_2005_07_31:267505006] +synonym: "phosphorus metabolism disorder" EXACT [CSP2005:0531-8952] +xref: ICD9CM:275.3 +xref: MSH:D010760 +xref: NCI:C97095 +xref: SNOMEDCT_US_2015_03_01:154752005 +xref: SNOMEDCT_US_2015_03_01:190858002 +xref: SNOMEDCT_US_2015_03_01:190862008 +xref: SNOMEDCT_US_2015_03_01:267505006 +xref: SNOMEDCT_US_2015_03_01:87049008 +xref: UMLS_CUI:C0031707 +is_a: DOID:0050032 ! mineral metabolism disease + +[Term] +id: DOID:2487 +name: hypercholesterolemia +synonym: "hypercholesteremia" EXACT [CSP2005:1744-1643] +synonym: "hypercholesterolaemia" RELATED [SNOMEDCT_2005_07_31:154740003] +is_obsolete: true + +[Term] +id: DOID:2490 +name: congenital nervous system abnormality +synonym: "congenital neurologic anomaly" EXACT [] +xref: ICD9CM:742 +xref: SNOMEDCT_US_2015_03_01:204018008 +xref: UMLS_CUI:C0158538 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:2491 +name: sensory peripheral neuropathy +alt_id: DOID:10596 +def: "A peripheral neuropathy that involves damage to nerves of the peripheral nervous system." [ls:IEDB] +synonym: "peripheral Sensory Neuropathy" EXACT [NCI2004_11_17:C3501] +synonym: "sensory neuropathy" EXACT [CSP2005:4007-0113] +synonym: "Sensory neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:95662005] +xref: ICD9CM:356.2 +xref: MSH:D009477 +xref: NCI:C3501 +xref: SNOMEDCT_US_2015_03_01:11442006 +xref: SNOMEDCT_US_2015_03_01:193163001 +xref: SNOMEDCT_US_2015_03_01:95662005 +xref: UMLS_CUI:C0151313 +xref: UMLS_CUI:C0699739 +is_a: DOID:0060053 ! peripheral neuropathy + +[Term] +id: DOID:2492 +name: hereditary peripheral neuropathy +synonym: "Hereditary peripheral neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:65017003] +synonym: "Hereditary peripheral neuropathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193159008] +is_obsolete: true + +[Term] +id: DOID:2493 +name: gastric antral vascular ectasia +synonym: "gastric antral vascular ectasia (disorder)" EXACT [SNOMEDCT_2005_07_31:412795008] +synonym: "Watermelon stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:43935004] +xref: MSH:D020252 +xref: NCI:C84724 +xref: SNOMEDCT_US_2015_03_01:412795008 +xref: SNOMEDCT_US_2015_03_01:43935004 +xref: UMLS_CUI:C0267211 +is_a: DOID:1271 ! capillary disease + +[Term] +id: DOID:2494 +name: angiodysplasia +alt_id: DOID:12071 +def: "A vascular disease that is characterized as a small vascular malformation of the gut." [url:http\://en.wikipedia.org/wiki/Angiodysplasia] +synonym: "angiodysplasia of stomach and duodenum with hemorrhage" EXACT [] +xref: ICD9CM:537.83 +xref: MSH:D016888 +xref: SNOMEDCT_US_2015_03_01:71072006 +xref: UMLS_CUI:C0085411 +xref: UMLS_CUI:C0156091 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:2495 +name: senile angioma +synonym: "Senile angioma (disorder)" EXACT [SNOMEDCT_2005_07_31:5050001] +synonym: "Senile hemangioma" EXACT [NCI2004_11_17:C4390] +synonym: "Senile naevus of skin" EXACT [SNOMEDCT_2005_07_31:11790000] +xref: NCI:C4390 +xref: SNOMEDCT_US_2015_03_01:11790000 +xref: SNOMEDCT_US_2015_03_01:5050001 +xref: UMLS_CUI:C0343082 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2497 +name: enamel erosion +xref: ICD9CM:521.31 +xref: UMLS_CUI:C1456161 +is_a: DOID:2498 ! tooth erosion + +[Term] +id: DOID:2498 +name: tooth erosion +alt_id: DOID:11509 +alt_id: DOID:12687 +synonym: "generalized erosion" EXACT [] +synonym: "localized erosion" EXACT [] +xref: ICD10CM:K03.2 +xref: ICD9CM:521.3 +xref: ICD9CM:521.34 +xref: ICD9CM:521.35 +xref: MSH:D014077 +xref: SNOMEDCT_US_2015_03_01:155634008 +xref: SNOMEDCT_US_2015_03_01:196315004 +xref: SNOMEDCT_US_2015_03_01:266486000 +xref: SNOMEDCT_US_2015_03_01:82212003 +xref: UMLS_CUI:C0040436 +xref: UMLS_CUI:C1456164 +xref: UMLS_CUI:C1456165 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:250 +name: chronic brain damage +synonym: "chronic brain damage" EXACT [CSP2005:0482-0937] +synonym: "chronic brain syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:78689005] +synonym: "chronic Encephalopathy" EXACT [NCI2004_11_17:C34435] +is_obsolete: true + +[Term] +id: DOID:2503 +name: AIDS-related vulvovaginal candidiasis +def: "A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients." [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis] +is_obsolete: true + +[Term] +id: DOID:2508 +name: Takayasu's arteritis +alt_id: DOID:13377 +def: "A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001250.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "(Aortic arch arteritis) or (Takayasu's disease[& pulseless])" EXACT [SNOMEDCT_2005_07_31:195361009] +synonym: "Aortic arch arteritis" EXACT [MTHICD9_2006:446.7] +synonym: "Aortic Arch syndrome" EXACT [NCI2004_11_17:C34391] +synonym: "Aortic arch syndrome" EXACT [SNOMEDCT_2005_07_31:359789008] +synonym: "Idiopathic aortitis (disorder)" EXACT [SNOMEDCT_2005_07_31:239937004] +synonym: "Takayasu arteritis" EXACT [] +synonym: "Takayasu's disease" EXACT [ICD9CM_2006:446.7, SNOMEDCT_2005_07_31:155445002, SNOMEDCT_2005_07_31:266323005] +xref: ICD10CM:M31.4 +xref: ICD9CM:446.7 +xref: MSH:D001015 +xref: MSH:D013625 +xref: NCI:C34391 +xref: NCI:C35062 +xref: OMIM:207600 +xref: SNOMEDCT_US_2015_03_01:155445002 +xref: SNOMEDCT_US_2015_03_01:195361009 +xref: SNOMEDCT_US_2015_03_01:266323005 +xref: SNOMEDCT_US_2015_03_01:359789008 +xref: SNOMEDCT_US_2015_03_01:42153001 +xref: UMLS_CUI:C0003490 +xref: UMLS_CUI:C0039263 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:251 +name: alcohol-induced mental disorder +xref: ICD9CM:291.8 +xref: ICD9CM:291.89 +xref: UMLS_CUI:C1456283 +is_a: DOID:8646 ! substance-induced psychosis + +[Term] +id: DOID:2510 +name: Kluver-Bucy syndrome +def: "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." [url:http\://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome, url:http\://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm] +synonym: "Klver-Bucy syndrome" EXACT [SNOMEDCT_2005_07_31:10651001] +xref: MSH:D020232 +xref: NCI:C84802 +xref: SNOMEDCT_US_2015_03_01:10651001 +xref: UMLS_CUI:C0270707 +is_a: DOID:10937 ! impulse control disorder + +[Term] +id: DOID:2512 +name: nevoid basal cell carcinoma syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "basal cell nevus syndrome" EXACT [] +synonym: "Gorlin syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:69408002] +synonym: "Naevoid basal cell carcinoma syndrome" EXACT [SNOMEDCT_2005_07_31:254704004] +synonym: "Naevoid basal cell carcinoma syndrome" EXACT [SNOMEDCT_2005_07_31:188145001] +xref: MSH:D001478 +xref: NCI:C2892 +xref: OMIM:109400 +xref: SNOMEDCT_US_2015_03_01:188145001 +xref: SNOMEDCT_US_2015_03_01:254704004 +xref: SNOMEDCT_US_2015_03_01:69408002 +xref: UMLS_CUI:C0004779 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:2513 +name: basal cell carcinoma +alt_id: DOID:4275 +alt_id: DOID:4276 +def: "A skin carcinoma affecting basal cells." [url:http\://en.wikipedia.org/wiki/Basal-cell_carcinoma] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Basal cell cancer" EXACT [NCI2004_11_17:C2921] +synonym: "Basal cell carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189573003] +synonym: "BASAL CELL carcinoma OF SKIN" EXACT [MTH:100] +synonym: "Basal cell carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254701007] +synonym: "Basal cell neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189572008] +synonym: "Basal cell neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189574009] +synonym: "Basal cell tumor" EXACT [NCI2004_11_17:C3784] +synonym: "Basal cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30649006] +synonym: "Epithelioma basal cell (disorder)" EXACT [SNOMEDCT_2005_07_31:275265005] +synonym: "malignant Basal cell neoplasm" EXACT [NCI2004_11_17:C7586] +synonym: "malignant basal cell tumor" EXACT [] +synonym: "malignant basal cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:252995000] +synonym: "Rodent ulcer" EXACT [SNOMEDCT_2005_07_31:399049001] +synonym: "Rodent ulcer" EXACT [SNOMEDCT_2005_07_31:188083002] +synonym: "Rodent ulcer" EXACT [SNOMEDCT_2005_07_31:269582000] +synonym: "Rodent ulcer" EXACT [SNOMEDCT_2005_07_31:154507009] +xref: CSP:2000-2719 +xref: EFO:0004193 +xref: HP:0002671 +xref: KEGG:05217 +xref: MSH:D002280 +xref: MSH:D018295 +xref: NCI:C2921 +xref: NCI:C3784 +xref: NCI:C7586 +xref: OMIM:605462 +xref: OMIM:613058 +xref: OMIM:613059 +xref: OMIM:613061 +xref: OMIM:613062 +xref: OMIM:613063 +xref: OMIM:614740 +xref: SNOMEDCT_US_2015_03_01:127570002 +xref: SNOMEDCT_US_2015_03_01:1338007 +xref: SNOMEDCT_US_2015_03_01:154507009 +xref: SNOMEDCT_US_2015_03_01:188083002 +xref: SNOMEDCT_US_2015_03_01:189572008 +xref: SNOMEDCT_US_2015_03_01:189573003 +xref: SNOMEDCT_US_2015_03_01:189574009 +xref: SNOMEDCT_US_2015_03_01:252995000 +xref: SNOMEDCT_US_2015_03_01:254701007 +xref: SNOMEDCT_US_2015_03_01:269582000 +xref: SNOMEDCT_US_2015_03_01:275265005 +xref: SNOMEDCT_US_2015_03_01:30649006 +xref: SNOMEDCT_US_2015_03_01:399049001 +xref: UMLS_CUI:C0007117 +xref: UMLS_CUI:C0206710 +xref: UMLS_CUI:C1368295 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:2514 +name: meningococcal optic neuritis +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal optic neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:73431005] +is_obsolete: true + +[Term] +id: DOID:2515 +name: meningococcal infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2516 +name: intracranial cavernous angioma +synonym: "intracranial Cavernoma" EXACT [NCI2004_11_17:C5432] +xref: NCI:C5432 +xref: SNOMEDCT_US_2015_03_01:445513004 +xref: UMLS_CUI:C1334237 +is_a: DOID:2517 ! intracranial structure hemangioma +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:2517 +name: intracranial structure hemangioma +synonym: "Angioma of intracranial Structure" EXACT [NCI2004_11_17:C3633] +synonym: "hemangioma of intracranial structure (disorder)" EXACT [SNOMEDCT_2005_07_31:93468003] +synonym: "hemangioma of intracranial structures" EXACT [ICD9CM_2006:228.02] +synonym: "hemangioma of intracranial structures (disorder)" EXACT [SNOMEDCT_2005_07_31:189196005] +xref: ICD10CM:D18.02 +xref: ICD9CM:228.02 +xref: NCI:C3633 +xref: SNOMEDCT_US_2015_03_01:189196005 +xref: SNOMEDCT_US_2015_03_01:93468003 +xref: UMLS_CUI:C0154050 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:2518 +name: orchitis +synonym: "Inflammation of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:297229006] +synonym: "Orchititis" EXACT [SNOMEDCT_2005_07_31:274718005] +xref: ICD10CM:N45.2 +xref: MSH:D009920 +xref: NCI:C97145 +xref: SNOMEDCT_US_2015_03_01:197984006 +xref: SNOMEDCT_US_2015_03_01:197987004 +xref: SNOMEDCT_US_2015_03_01:197990005 +xref: SNOMEDCT_US_2015_03_01:274718005 +xref: SNOMEDCT_US_2015_03_01:29077001 +xref: SNOMEDCT_US_2015_03_01:297229006 +xref: SNOMEDCT_US_2015_03_01:367112009 +xref: UMLS_CUI:C0029191 +is_a: DOID:2519 ! testicular disease + +[Term] +id: DOID:2519 +name: testicular disease +synonym: "disorder of testis" EXACT [SNOMEDCT_2005_07_31:297228003] +synonym: "testicular disorder" EXACT [NCI2004_11_17:C26890] +synonym: "testis disorder" EXACT [CSP2005:2587-6706] +xref: MSH:D013733 +xref: NCI:C26890 +xref: SNOMEDCT_US_2015_03_01:236763001 +xref: SNOMEDCT_US_2015_03_01:297228003 +xref: SNOMEDCT_US_2015_03_01:64910008 +xref: UMLS_CUI:C0039584 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:252 +name: alcoholic psychosis +synonym: "Alcoholic psychoses" EXACT [SNOMEDCT_2005_07_31:154852003] +xref: ICD9CM:291.9 +xref: MSH:D011604 +xref: SNOMEDCT_US_2015_03_01:154852003 +xref: SNOMEDCT_US_2015_03_01:191482008 +xref: SNOMEDCT_US_2015_03_01:192212000 +xref: SNOMEDCT_US_2015_03_01:268684002 +xref: SNOMEDCT_US_2015_03_01:42344001 +xref: UMLS_CUI:C0033936 +is_a: DOID:251 ! alcohol-induced mental disorder + +[Term] +id: DOID:2524 +name: abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium +alt_id: DOID:2523 +alt_id: DOID:2813 +alt_id: DOID:2865 +synonym: "abnormal glucose tolerance of mother with delivery" EXACT [] +synonym: "antepartum abnormal glucose tolerance of mother" EXACT [] +synonym: "postpartum abnormal glucose tolerance of mother" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2526 +name: prostate adenocarcinoma +def: "A prostate carcinoma that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/prostatecancer, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Prostate_cancer] +subset: DO_cancer_slim +xref: NCI:C2919 +xref: SNOMEDCT_US_2015_03_01:399490008 +xref: UMLS_CUI:C0007112 +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:2527 +name: nephrosis +xref: MSH:D009401 +xref: SNOMEDCT_US_2015_03_01:90708001 +xref: UMLS_CUI:C0027720 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2528 +name: myeloid metaplasia +def: "A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work." [url:https\://health.google.com/health/ref/Primary+myelofibrosis] +synonym: "Myeloid metaplasia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:82513007] +is_obsolete: true + +[Term] +id: DOID:2529 +name: splenic disease +alt_id: DOID:0000815 +synonym: "Dyssplenism" EXACT [SNOMEDCT_2005_07_31:58381000] +synonym: "Spleen disease" EXACT [SNOMEDCT_2005_07_31:267570002] +xref: ICD10CM:D73 +xref: ICD10CM:D73.9 +xref: ICD9CM:289.50 +xref: MSH:D013158 +xref: NCI:C35823 +xref: SNOMEDCT_US_2015_03_01:154839008 +xref: SNOMEDCT_US_2015_03_01:191381002 +xref: SNOMEDCT_US_2015_03_01:191385006 +xref: SNOMEDCT_US_2015_03_01:267570002 +xref: SNOMEDCT_US_2015_03_01:51244008 +xref: SNOMEDCT_US_2015_03_01:58381000 +xref: UMLS_CUI:C0037997 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:2530 +name: splenic abscess +synonym: "Splenic abscess" EXACT [NCI2004_11_17:C35347] +synonym: "Splenic abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:82053000] +xref: ICD10CM:D73.3 +xref: NCI:C35347 +xref: SNOMEDCT_US_2015_03_01:82053000 +xref: UMLS_CUI:C0272412 +is_a: DOID:2529 ! splenic disease + +[Term] +id: DOID:2531 +name: hematologic cancer +alt_id: DOID:1034 +alt_id: DOID:2532 +def: "An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." [url:http\://en.wikipedia.org/wiki/Blood_cancer, url:http\://www.cancer.gov/dictionary/?CdrID=45708] +subset: TopNodes_DOcancerslim +synonym: "blood cancer" EXACT [CSP2005:2004-0139] +synonym: "Hematologic malignancy" EXACT [SNOMEDCT_2005_07_31:269475001] +synonym: "Hematologic malignancy (disorder)" EXACT [SNOMEDCT_2005_07_31:127221002] +synonym: "Hematologic neoplasm (disorder)" EXACT [SNOMEDCT_2005_07_31:129154003] +synonym: "Hematological tumors" EXACT [NCI2004_11_17:C27134] +synonym: "hematopoietic and lymphoid system tumor" EXACT [] +synonym: "hematopoietic cancer" EXACT [] +synonym: "hematopoietic neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:414388001] +synonym: "hematopoietic tumors" EXACT [NCI2004_11_17:C27134] +synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:414644002] +xref: MSH:D019337 +xref: NCI:C27134 +xref: SNOMEDCT_US_2015_03_01:414388001 +xref: SNOMEDCT_US_2015_03_01:414644002 +xref: UMLS_CUI:C0376544 +is_a: DOID:0060083 ! immune system cancer + +[Term] +id: DOID:2533 +name: splenic infarction +synonym: "Splenic infarct" EXACT [SNOMEDCT_2005_07_31:267570002] +synonym: "Splenic infarct" EXACT [SNOMEDCT_2005_07_31:154839008] +synonym: "Splenic infarction" EXACT [MTHICD9_2006:289.59] +synonym: "Splenic infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:22996003] +xref: ICD10CM:D73.5 +xref: MSH:D013159 +xref: SNOMEDCT_US_2015_03_01:154839008 +xref: SNOMEDCT_US_2015_03_01:22996003 +xref: SNOMEDCT_US_2015_03_01:267570002 +xref: UMLS_CUI:C0037998 +is_a: DOID:2529 ! splenic disease + +[Term] +id: DOID:2536 +name: chronic inflammatory demyelinating polyneuritis +xref: ICD10CM:G61.81 +xref: ICD9CM:357.81 +xref: SNOMEDCT_US_2015_03_01:444728005 +xref: UMLS_CUI:C0865502 +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:2537 +name: inflammatory and toxic neuropathy +xref: ICD9CM:357 +xref: ICD9CM:357.9 +xref: SNOMEDCT_US_2015_03_01:155060008 +xref: SNOMEDCT_US_2015_03_01:193172009 +xref: SNOMEDCT_US_2015_03_01:193204000 +xref: SNOMEDCT_US_2015_03_01:267601009 +xref: SNOMEDCT_US_2015_03_01:267603007 +xref: UMLS_CUI:C0154758 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:2538 +name: Landau-Kleffner syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acquired epileptic aphasia" EXACT [SNOMEDCT_2005_07_31:192567003] +xref: ICD10CM:G40.8 +xref: MSH:D018887 +xref: NCI:C84806 +xref: OMIM:245570 +xref: SNOMEDCT_US_2015_03_01:192567003 +xref: SNOMEDCT_US_2015_03_01:230438007 +xref: UMLS_CUI:C0282512 +is_a: DOID:0050704 ! childhood electroclinical syndrome + +[Term] +id: DOID:254 +name: hemangioma of intra-abdominal structure +synonym: "hemangioma of intra-abdominal structure (disorder)" EXACT [SNOMEDCT_2005_07_31:93467008] +synonym: "hemangioma of intra-abdominal structures" EXACT [ICD9CM_2006:228.04] +synonym: "hemangioma of intra-abdominal structures (disorder)" EXACT [SNOMEDCT_2005_07_31:189197001] +synonym: "hemangioma, Intra-abdominal" EXACT [NCI2004_11_17:C3635] +xref: ICD10CM:D18.03 +xref: ICD9CM:228.04 +xref: NCI:C3635 +xref: SNOMEDCT_US_2015_03_01:189197001 +xref: SNOMEDCT_US_2015_03_01:93467008 +xref: UMLS_CUI:C0154052 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:2544 +name: extratemporal epilepsy +def: "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe." [url:http\://www.webmd.com/epilepsy/extratemporal-cortical-resection] +synonym: "Extratemporal epilepsy" EXACT [NCI2004_11_17:C7760] +synonym: "Extratemporal epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:111498005] +xref: NCI:C7760 +xref: SNOMEDCT_US_2015_03_01:111498005 +xref: UMLS_CUI:C0270849 +is_a: DOID:1826 ! epilepsy syndrome + +[Term] +id: DOID:2545 +name: congenital epilepsy +is_obsolete: true + +[Term] +id: DOID:2546 +name: atonic epilepsy +synonym: "Atonic epilepsy" EXACT [NCI2004_11_17:C3485] +synonym: "Epileptic seizures - atonic (finding)" EXACT [SNOMEDCT_2005_07_31:192981006] +is_obsolete: true + +[Term] +id: DOID:2547 +name: intractable epilepsy +is_obsolete: true + +[Term] +id: DOID:2548 +name: reflex epilepsy +synonym: "epilepsy, sensory-induced" EXACT [MTHICD9_2006:345.5] +xref: MSH:D020195 +xref: NCI:C85041 +xref: SNOMEDCT_US_2015_03_01:79745005 +xref: UMLS_CUI:C0270857 +is_a: DOID:0050706 ! variable age at onset electroclinical syndrome + +[Term] +id: DOID:2549 +name: aggravated epilepsy +is_obsolete: true + +[Term] +id: DOID:255 +name: hemangioma +def: "A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood." [url:http\://en.wikipedia.org/wiki/Hemangioma] +xref: ICD10CM:D18.0 +xref: ICD10CM:D18.00 +xref: ICD9CM:228.0 +xref: ICD9CM:228.00 +xref: MSH:D006391 +xref: NCI:C3085 +xref: SNOMEDCT_US_2015_03_01:154625006 +xref: SNOMEDCT_US_2015_03_01:189192007 +xref: SNOMEDCT_US_2015_03_01:189193002 +xref: SNOMEDCT_US_2015_03_01:189194008 +xref: SNOMEDCT_US_2015_03_01:189199003 +xref: SNOMEDCT_US_2015_03_01:189863005 +xref: SNOMEDCT_US_2015_03_01:2099007 +xref: SNOMEDCT_US_2015_03_01:253053003 +xref: SNOMEDCT_US_2015_03_01:254822005 +xref: SNOMEDCT_US_2015_03_01:269646001 +xref: SNOMEDCT_US_2015_03_01:367337005 +xref: SNOMEDCT_US_2015_03_01:400210000 +xref: SNOMEDCT_US_2015_03_01:93474003 +xref: UMLS_CUI:C0018916 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:2550 +name: tactile epilepsy +synonym: "Tactile epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:230449001] +xref: NCI:C4687 +xref: SNOMEDCT_US_2015_03_01:230449001 +xref: UMLS_CUI:C0393724 +is_a: DOID:2548 ! reflex epilepsy + +[Term] +id: DOID:2551 +name: anosognostic epilepsy +is_obsolete: true + +[Term] +id: DOID:2555 +name: granulomatous angiitis +xref: MSH:D020293 +xref: NCI:C34653 +xref: UMLS_CUI:C0018202 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:2556 +name: relapsing polychondritis +synonym: "Chondromalacia, systemic" EXACT [MTHICD9_2006:733.92] +xref: ICD10CM:M94.1 +xref: MSH:D011081 +xref: SNOMEDCT_US_2015_03_01:111256009 +xref: SNOMEDCT_US_2015_03_01:72275000 +xref: SNOMEDCT_US_2015_03_01:85780006 +xref: UMLS_CUI:C0032453 +is_a: DOID:1222 ! cartilage disease +is_a: DOID:2557 ! chondromalacia + +[Term] +id: DOID:2557 +name: chondromalacia +xref: ICD10CM:M94.2 +xref: ICD10CM:M94.20 +xref: ICD9CM:733.92 +xref: MSH:D002357 +xref: SNOMEDCT_US_2015_03_01:203512007 +xref: SNOMEDCT_US_2015_03_01:63198006 +xref: UMLS_CUI:C0085700 +is_a: DOID:6227 ! articular cartilage disease + +[Term] +id: DOID:2559 +name: opiate dependence +def: "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opiate_dependency] +synonym: "Opioid type dependence" EXACT [ICD9CM_2006:304.0] +xref: ICD10CM:F11.2 +xref: ICD9CM:304.0 +xref: ICD9CM:304.00 +xref: MSH:D009293 +xref: SNOMEDCT_US_2015_03_01:191817000 +xref: SNOMEDCT_US_2015_03_01:191818005 +xref: SNOMEDCT_US_2015_03_01:192220003 +xref: SNOMEDCT_US_2015_03_01:75544000 +xref: UMLS_CUI:C0524662 +is_a: DOID:9974 ! drug dependence + +[Term] +id: DOID:256 +name: hemangioma of spleen +synonym: "hemangioma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93472004] +synonym: "Splenic hemangioma" EXACT [NCI2004_11_17:C8541] +xref: NCI:C8541 +xref: SNOMEDCT_US_2015_03_01:93472004 +xref: UMLS_CUI:C0685201 +is_a: DOID:254 ! hemangioma of intra-abdominal structure + +[Term] +id: DOID:2560 +name: morphine dependence +def: "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opioid_dependence] +xref: MSH:D009021 +xref: SNOMEDCT_US_2015_03_01:191817000 +xref: SNOMEDCT_US_2015_03_01:231479000 +xref: SNOMEDCT_US_2015_03_01:286934009 +xref: UMLS_CUI:C0026552 +is_a: DOID:2559 ! opiate dependence + +[Term] +id: DOID:2562 +name: suppurative periapical periodontitis +synonym: "Apical abscess" EXACT [SNOMEDCT_2005_07_31:34597006] +synonym: "Dentoalveolar abscess" EXACT [MTHICD9_2006:522.5] +synonym: "Dentoalveolar abscess" EXACT [NCI2004_11_17:C34913] +synonym: "Periapical abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:196341005] +synonym: "Suppurative apical periodontitis" EXACT [SNOMEDCT_2005_07_31:109603007] +xref: MSH:D010482 +xref: NCI:C34913 +xref: SNOMEDCT_US_2015_03_01:109603007 +xref: SNOMEDCT_US_2015_03_01:196341005 +xref: SNOMEDCT_US_2015_03_01:34597006 +xref: UMLS_CUI:C0031024 +is_a: DOID:823 ! periapical periodontitis + +[Term] +id: DOID:2563 +name: Serratia septicemia +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +synonym: "Septicemia due to serratia" EXACT [ICD9CM_2006:038.44] +synonym: "Septicemia due to Serratia (disorder)" EXACT [SNOMEDCT_2005_07_31:82091000] +is_obsolete: true + +[Term] +id: DOID:2565 +name: macular corneal dystrophy +def: "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea." [url:http\://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular, url:http\://en.wikipedia.org/wiki/Macular_corneal_dystrophy, url:http\://www.ncbi.nlm.nih.gov/pubmed/11017086, url:http\://www.ncbi.nlm.nih.gov/pubmed/17093400, url:http\://www.omim.org/entry/217800?search=217800&highlight=217800] +synonym: "Fehr corneal dystrophy" EXACT [] +synonym: "MACULAR DYSTROPHY, CORNEAL, 1" EXACT [] +xref: ICD10CM:H18.55 +xref: ICD9CM:371.55 +xref: MSH:D003317 +xref: NCI:C34793 +xref: OMIM:217800 +xref: SNOMEDCT_US_2015_03_01:60258001 +xref: UMLS_CUI:C0024439 +is_a: DOID:0060442 ! stromal dystrophy + +[Term] +id: DOID:2566 +name: corneal dystrophy +alt_id: DOID:8944 +synonym: "hereditary corneal dystrophy" EXACT [] +xref: ICD10CM:H18.5 +xref: ICD9CM:371.5 +xref: MSH:D003317 +xref: NCI:C34512 +xref: NCI:C34513 +xref: SNOMEDCT_US_2015_03_01:193831005 +xref: SNOMEDCT_US_2015_03_01:193832003 +xref: SNOMEDCT_US_2015_03_01:193842001 +xref: SNOMEDCT_US_2015_03_01:5587004 +xref: SNOMEDCT_US_2015_03_01:77797009 +xref: UMLS_CUI:C0010035 +xref: UMLS_CUI:C0010036 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:2567 +name: primary Enterobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2568 +name: cervicitis +alt_id: DOID:10110 +synonym: "cervicitis and endocervicitis" EXACT [] +xref: ICD10CM:N72 +xref: ICD9CM:616.0 +xref: MSH:D002575 +xref: NCI:C26716 +xref: SNOMEDCT_US_2015_03_01:155980007 +xref: SNOMEDCT_US_2015_03_01:198199009 +xref: SNOMEDCT_US_2015_03_01:198200007 +xref: SNOMEDCT_US_2015_03_01:198211004 +xref: SNOMEDCT_US_2015_03_01:237081003 +xref: SNOMEDCT_US_2015_03_01:266585004 +xref: SNOMEDCT_US_2015_03_01:266654000 +xref: SNOMEDCT_US_2015_03_01:37610005 +xref: SNOMEDCT_US_2015_03_01:80059007 +xref: UMLS_CUI:C0007860 +xref: UMLS_CUI:C0007861 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:2569 +name: retinal drusen +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Basal laminar drusen" EXACT [] +xref: ICD9CM:362.57 +xref: MSH:D015593 +xref: OMIM:126700 +xref: SNOMEDCT_US_2015_03_01:141199000 +xref: SNOMEDCT_US_2015_03_01:163999003 +xref: SNOMEDCT_US_2015_03_01:247153005 +xref: UMLS_CUI:C0035312 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:2570 +name: malignant histiocytic disease +xref: MSH:D015620 +xref: SNOMEDCT_US_2015_03_01:127070008 +xref: UMLS_CUI:C0019613 +is_a: DOID:3405 ! histiocytosis + +[Term] +id: DOID:2571 +name: Langerhans-cell histiocytosis +alt_id: DOID:10617 +alt_id: DOID:10618 +alt_id: DOID:10620 +alt_id: DOID:10623 +alt_id: DOID:10624 +alt_id: DOID:10625 +alt_id: DOID:2553 +alt_id: DOID:2554 +alt_id: DOID:9582 +def: "A histiocytosis that is characterized by clonal proliferation of Langerhans cells." [url:http\://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis] +comment: MERGED COMMENT:\nTARGET COMMENT: OMIM mapping confirmed by DO. [SN].\n--------------------\nSOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. +synonym: "Histiocytosis X" EXACT [SNOMEDCT_2005_07_31:269628007] +synonym: "Langerhan's cell histiocytosis (disorder)" EXACT [SNOMEDCT_2005_07_31:234439008] +synonym: "Langerhans cell granulomatosis" EXACT [CSP2005:0427-5330] +synonym: "Letterer-Siwe disease" EXACT [] +synonym: "Letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [ICD9CM_2006:202.53] +synonym: "Letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [ICD9CM_2006:202.56] +synonym: "Letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [ICD9CM_2006:202.52] +synonym: "Letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [ICD9CM_2006:202.54] +synonym: "Letterer-Siwe disease involving lymph nodes of head, face and neck" EXACT [] +synonym: "Letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [ICD9CM_2006:202.51] +synonym: "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [ICD9CM_2006:202.55] +synonym: "Letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [ICD9CM_2006:202.58] +synonym: "Letterer-Siwe disease involving spleen" EXACT [ICD9CM_2006:202.57] +synonym: "Letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [] +synonym: "Letterer-Siwe disease of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93133006] +synonym: "Letterer-Siwe disease of intrapelvic lymph nodes" EXACT [] +synonym: "Letterer-Siwe disease of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93134000] +synonym: "Letterer-Siwe disease of intrathoracic lymph nodes" EXACT [] +synonym: "Letterer-Siwe disease of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93135004] +synonym: "Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188657006] +synonym: "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [] +synonym: "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93136003] +synonym: "Letterer-Siwe disease of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188656002] +synonym: "Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93137007] +synonym: "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" EXACT [] +synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188658001] +synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93138002] +synonym: "Letterer-Siwe disease of lymph nodes of multiple sites" EXACT [] +synonym: "Letterer-Siwe disease of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:93139005] +synonym: "Letterer-Siwe disease of spleen" EXACT [] +synonym: "Letterer-Siwe disease of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93140007] +xref: ICD10CM:C96.0 +xref: ICD10CM:C96.5 +xref: ICD10CM:C96.6 +xref: ICD9CM:202.5 +xref: MSH:C538636 +xref: MSH:D006646 +xref: NCI:C3107 +xref: NCI:C3160 +xref: NCI:C6920 +xref: OMIM:246400 +xref: OMIM:604856 +xref: SNOMEDCT_US_2015_03_01:110450007 +xref: SNOMEDCT_US_2015_03_01:118614007 +xref: SNOMEDCT_US_2015_03_01:128809007 +xref: SNOMEDCT_US_2015_03_01:128811003 +xref: SNOMEDCT_US_2015_03_01:128812005 +xref: SNOMEDCT_US_2015_03_01:154583006 +xref: SNOMEDCT_US_2015_03_01:154773005 +xref: SNOMEDCT_US_2015_03_01:188654004 +xref: SNOMEDCT_US_2015_03_01:188655003 +xref: SNOMEDCT_US_2015_03_01:188659009 +xref: SNOMEDCT_US_2015_03_01:190955000 +xref: SNOMEDCT_US_2015_03_01:190956004 +xref: SNOMEDCT_US_2015_03_01:190960001 +xref: SNOMEDCT_US_2015_03_01:234439008 +xref: SNOMEDCT_US_2015_03_01:236957004 +xref: SNOMEDCT_US_2015_03_01:267510005 +xref: SNOMEDCT_US_2015_03_01:269628007 +xref: SNOMEDCT_US_2015_03_01:366059005 +xref: SNOMEDCT_US_2015_03_01:39795003 +xref: SNOMEDCT_US_2015_03_01:65399007 +xref: SNOMEDCT_US_2015_03_01:67574008 +xref: UMLS_CUI:C0019621 +xref: UMLS_CUI:C0023381 +is_a: DOID:3405 ! histiocytosis + +[Term] +id: DOID:2573 +name: drug-induced delirium +synonym: "Drug-induced delirium (disorder)" EXACT [SNOMEDCT_2005_07_31:191492000] +is_obsolete: true + +[Term] +id: DOID:2574 +name: diabetes mellitus insulin dependent type uncontrolled with renal manifestations +synonym: "Diabetes mellitus juvenile type, uncontrolled, with renal manifestations" EXACT [MTHICD9_2006:250.43] +synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations" EXACT [ICD9CM_2006:250.43] +is_obsolete: true + +[Term] +id: DOID:2575 +name: barbiturate dependence +def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Barbiturate_dependence] +xref: ICD9CM:304.11 +xref: SNOMEDCT:231472009 +xref: UMLS_CUI:C0154482 +is_a: DOID:9974 ! drug dependence + +[Term] +id: DOID:2580 +name: rhizomelic chondrodysplasia punctata +def: "A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene." [url:http\://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, url:http\://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, url:http\://www.healthline.com/galecontent/rhizomelic-chondrodysplasia-punctata] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E71.540 +xref: MSH:D018902 +xref: NCI:C85047 +xref: OMIM:215100 +xref: OMIM:222765 +xref: OMIM:600121 +xref: ORDO:177 +xref: SNOMEDCT_US_2015_03_01:56692003 +xref: UMLS_CUI:C0282529 +is_a: DOID:2581 ! chondrodysplasia punctata + +[Term] +id: DOID:2581 +name: chondrodysplasia punctata +comment: DeObs MGI. +subset: DO_MGI_slim +synonym: "Chondrodysplasia calcificans congenita" EXACT [SNOMEDCT_2005_07_31:22932004] +synonym: "Chondrodysplasia punctata congenita (disorder)" EXACT [SNOMEDCT_2005_07_31:360507004] +xref: ICD10CM:Q77.3 +xref: MSH:D002806 +xref: NCI:C84632 +xref: OMIM:215105 +xref: SNOMEDCT_US_2015_03_01:205486004 +xref: SNOMEDCT_US_2015_03_01:22932004 +xref: SNOMEDCT_US_2015_03_01:278715001 +xref: SNOMEDCT_US_2015_03_01:360507004 +xref: SNOMEDCT_US_2015_03_01:42778005 +xref: UMLS_CUI:C0008445 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:2582 +name: acatalasia +synonym: "deficiency of catalase (disorder)" EXACT [SNOMEDCT_2005_07_31:124202004] +xref: MSH:D020642 +xref: NCI:C84526 +xref: OMIM:614097 +xref: SNOMEDCT_US_2015_03_01:111393000 +xref: SNOMEDCT_US_2015_03_01:190954001 +xref: SNOMEDCT_US_2015_03_01:267454002 +xref: UMLS_CUI:C0268419 +is_a: DOID:906 ! peroxisomal disease + +[Term] +id: DOID:2583 +name: agammaglobulinemia +alt_id: DOID:618 +def: "A B cell deficiency that is caused by a reduction in all types of gamma globulins." [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "hypogammaglobulinemia" EXACT [CSP2005:0449-3787] +synonym: "IGHM" EXACT [] +synonym: "mu heavy chain deficiency" EXACT [] +xref: ICD10CM:D80.1 +xref: ICD9CM:279.00 +xref: MSH:D000361 +xref: NCI:C26931 +xref: OMIM:601495 +xref: OMIM:612692 +xref: OMIM:613500 +xref: OMIM:613501 +xref: OMIM:613502 +xref: OMIM:613506 +xref: OMIM:615214 +xref: SNOMEDCT_US_2015_03_01:119249001 +xref: SNOMEDCT_US_2015_03_01:119250001 +xref: SNOMEDCT_US_2015_03_01:190977001 +xref: SNOMEDCT_US_2015_03_01:190978006 +xref: SNOMEDCT_US_2015_03_01:267512002 +xref: SNOMEDCT_US_2015_03_01:81282009 +xref: UMLS_CUI:C0001768 +xref: UMLS_CUI:C0086438 +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:2584 +name: nephrotic syndrome with lesion of endothelial glomerulonephritis +is_obsolete: true + +[Term] +id: DOID:2585 +name: nephrotic syndrome with lesion of segmental hyalinosis +is_obsolete: true + +[Term] +id: DOID:2586 +name: nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis +synonym: "Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis" EXACT [NCI2004_11_17:C35536] +is_obsolete: true + +[Term] +id: DOID:2587 +name: nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis +synonym: "Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis" EXACT [NCI2004_11_17:C35539] +is_obsolete: true + +[Term] +id: DOID:2588 +name: nephrotic syndrome with lesion of persistent glomerulonephritis +synonym: "Nephrotic syndrome with Lesion of Persistent Glomerulonephritis" EXACT [NCI2004_11_17:C35537] +is_obsolete: true + +[Term] +id: DOID:2589 +name: nephrotic syndrome with lesion of membranous glomerulonephritis +synonym: "Nephrotic syndrome with lesion of membranous glomerulonephritis" EXACT [ICD9CM_2006:581.1] +is_obsolete: true + +[Term] +id: DOID:259 +name: abortion complicated by embolism +is_obsolete: true + +[Term] +id: DOID:2590 +name: familial nephrotic syndrome +synonym: "Congenital Nephrotic syndrome" EXACT [NCI2004_11_17:C35337] +synonym: "Congenital nephrotic syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:48796009] +synonym: "Congenital nephrotic syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197602005] +xref: ICD10CM:N04 +xref: NCI:C35337 +xref: SNOMEDCT_US_2015_03_01:197602005 +xref: SNOMEDCT_US_2015_03_01:48796009 +xref: UMLS_CUI:C0268713 +is_a: DOID:1184 ! nephrotic syndrome + +[Term] +id: DOID:2591 +name: nephrotic syndrome with lesion of lobular glomerulonephritis +synonym: "Nephrotic syndrome with Lesion of Lobular Glomerulonephritis" EXACT [NCI2004_11_17:C35538] +is_obsolete: true + +[Term] +id: DOID:2592 +name: nephrotic syndrome with lesion of focal glomerulosclerosis +synonym: "Nephrotic syndrome with Lesion of Focal Glomerulosclerosis" EXACT [NCI2004_11_17:C35533] +is_obsolete: true + +[Term] +id: DOID:2595 +name: glottis cancer +synonym: "Ca larynx - glottis" EXACT [SNOMEDCT_2005_07_31:154481005] +synonym: "Ca larynx - glottis (disorder)" EXACT [SNOMEDCT_2005_07_31:269557000] +synonym: "malignant tumor of glottis (disorder)" EXACT [SNOMEDCT_2005_07_31:187841006] +synonym: "malignant tumor of the Glottis" EXACT [NCI2004_11_17:C3544] +xref: ICD10CM:C32.0 +xref: ICD9CM:161.0 +xref: NCI:C3544 +xref: SNOMEDCT_US_2015_03_01:154481005 +xref: SNOMEDCT_US_2015_03_01:187841006 +xref: SNOMEDCT_US_2015_03_01:269557000 +xref: UMLS_CUI:C0153483 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:2596 +name: larynx cancer +def: "A respiratory system cancer that is located_in the larynx." [url:http\://en.wikipedia.org/wiki/Larynx] +subset: TopNodes_DOcancerslim +xref: ICD10CM:C32 +xref: ICD10CM:C32.9 +xref: ICD9CM:161 +xref: ICD9CM:161.9 +xref: MSH:D007822 +xref: NCI:C7484 +xref: SNOMEDCT_US_2015_03_01:154484002 +xref: SNOMEDCT_US_2015_03_01:187851007 +xref: SNOMEDCT_US_2015_03_01:269560007 +xref: SNOMEDCT_US_2015_03_01:363429002 +xref: SNOMEDCT_US_2015_03_01:93859007 +xref: UMLS_CUI:C0007107 +is_a: DOID:0050615 ! respiratory system cancer + +[Term] +id: DOID:2597 +name: glottis neoplasm +synonym: "neoplasm of glottis (disorder)" EXACT [SNOMEDCT_2005_07_31:126693009] +synonym: "tumor of the Glottis" EXACT [NCI2004_11_17:C4425] +xref: NCI:C4425 +xref: SNOMEDCT_US_2015_03_01:126693009 +xref: UMLS_CUI:C0345713 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:2598 +name: laryngeal benign neoplasm +synonym: "laryngeal tumor" EXACT [NCI2004_11_17:C3156] +synonym: "larynx neoplasm" EXACT [CSP2005:2017-5694] +synonym: "neoplasm of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:126692004] +xref: MSH:D007822 +xref: NCI:C3156 +xref: SNOMEDCT_US_2015_03_01:126692004 +xref: UMLS_CUI:C0023055 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:2599 +name: glottis carcinoma +synonym: "carcinoma of glottis (disorder)" EXACT [SNOMEDCT_2005_07_31:372103002] +synonym: "Glottic carcinoma" EXACT [NCI2004_11_17:C4923] +xref: NCI:C4923 +xref: SNOMEDCT_US_2015_03_01:372103002 +xref: UMLS_CUI:C0740083 +is_a: DOID:2595 ! glottis cancer + +[Term] +id: DOID:26 +name: pancreas disease +def: "An endocrine system disease that is located_in the pancreas." [url:http\://en.wikipedia.org/wiki/Pancreatic_disease] +xref: ICD10CM:K86.8 +xref: ICD9CM:577.8 +xref: SNOMEDCT_US_2015_03_01:197566002 +xref: UMLS_CUI:C0029771 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:260 +name: hepatic flexure cancer +synonym: "Ca hepatic flexure - colon" EXACT [SNOMEDCT_2005_07_31:154455006] +synonym: "Ca hepatic flexure - colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269534006] +synonym: "malignant neoplasm of hepatic flexure" EXACT [ICD9CM_2006:153.0] +synonym: "malignant tumor of hepatic flexure (disorder)" EXACT [SNOMEDCT_2005_07_31:363407001] +xref: ICD10CM:C18.3 +xref: ICD9CM:153.0 +xref: SNOMEDCT_US_2015_03_01:154455006 +xref: SNOMEDCT_US_2015_03_01:269534006 +xref: SNOMEDCT_US_2015_03_01:363407001 +xref: SNOMEDCT_US_2015_03_01:93826009 +xref: UMLS_CUI:C0153433 +is_a: DOID:218 ! ascending colon cancer + +[Term] +id: DOID:2600 +name: laryngeal carcinoma +def: "A larynx cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "cancer of Larynx" EXACT [NCI2004_11_17:C4855] +synonym: "cancer of larynx" EXACT [SNOMEDCT_2005_07_31:93859007] +synonym: "carcinoma of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:276975007] +xref: NCI:C4855 +xref: SNOMEDCT_US_2015_03_01:154480006 +xref: SNOMEDCT_US_2015_03_01:276975007 +xref: SNOMEDCT_US_2015_03_01:93859007 +xref: UMLS_CUI:C0595989 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:2601 +name: juxtacortical chondroma +synonym: "Juxtacortical chondroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:9266000] +synonym: "Periosteal Chondroma" EXACT [NCI2004_11_17:C4302] +xref: NCI:C4302 +xref: SNOMEDCT_US_2015_03_01:9266000 +xref: UMLS_CUI:C0334548 +is_a: DOID:2602 ! chondroma + +[Term] +id: DOID:2602 +name: chondroma +def: "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern." [url:http\://en.wikipedia.org/wiki/Chondroma] +synonym: "central Chondroma" EXACT [NCI2004_11_17:C3007] +synonym: "Chondroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:31186001] +synonym: "Chondroma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189885004] +xref: MSH:D002812 +xref: NCI:C53459 +xref: SNOMEDCT_US_2015_03_01:154611005 +xref: SNOMEDCT_US_2015_03_01:187899007 +xref: SNOMEDCT_US_2015_03_01:188980001 +xref: SNOMEDCT_US_2015_03_01:189885004 +xref: SNOMEDCT_US_2015_03_01:269638002 +xref: SNOMEDCT_US_2015_03_01:31186001 +xref: UMLS_CUI:C0936248 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:2609 +name: adenomyoma +def: "A carcinosarcoma that has_material_basis_in gland and muscle components." [url:http\://en.wikipedia.org/wiki/Adenomyoma] +synonym: "adenomyoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:40293003] +xref: MSH:D018194 +xref: NCI:C3726 +xref: SNOMEDCT_US_2015_03_01:40293003 +xref: UMLS_CUI:C0206622 +is_a: DOID:4236 ! carcinosarcoma + +[Term] +id: DOID:261 +name: transverse colon cancer +synonym: "Ca transverse colon" EXACT [SNOMEDCT_2005_07_31:154456007] +synonym: "Ca transverse colon (disorder)" EXACT [SNOMEDCT_2005_07_31:269535007] +synonym: "malignant tumor of transverse colon (disorder)" EXACT [SNOMEDCT_2005_07_31:363408006] +xref: ICD10CM:C18.4 +xref: ICD9CM:153.1 +xref: SNOMEDCT_US_2015_03_01:154456007 +xref: SNOMEDCT_US_2015_03_01:269535007 +xref: SNOMEDCT_US_2015_03_01:363408006 +xref: SNOMEDCT_US_2015_03_01:94105000 +xref: UMLS_CUI:C0153434 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:2614 +name: serous surface papilloma +synonym: "serous Surface papilloma" EXACT [NCI2004_11_17:C4181] +synonym: "serous surface papilloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:67073007] +synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189689007] +xref: NCI:C4181 +xref: SNOMEDCT_US_2015_03_01:189689007 +xref: SNOMEDCT_US_2015_03_01:67073007 +xref: UMLS_CUI:C0334360 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:2615 +name: papilloma +alt_id: DOID:1635 +def: "A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue." [url:http\://www.merriam-webster.com/medlineplus/papilloma] +synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:23730008] +synonym: "papillomatosis" EXACT [] +synonym: "papillomatosis NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189564006] +synonym: "papillomatosis, NOS" EXACT [SNOMEDCT_2005_07_31:82049002] +xref: MSH:D010212 +xref: NCI:C3713 +xref: NCI:C7440 +xref: SNOMEDCT_US_2015_03_01:189564006 +xref: SNOMEDCT_US_2015_03_01:23730008 +xref: SNOMEDCT_US_2015_03_01:82049002 +xref: UMLS_CUI:C0030354 +xref: UMLS_CUI:C0205875 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:2616 +name: Wolffian duct adenoma +synonym: "Mesonephric adenoma" EXACT [NCI2004_11_17:C4294] +synonym: "Mesonephroma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:72889001] +synonym: "Wolffian duct adenoma" RELATED [] +xref: NCI:C4294 +xref: SNOMEDCT_US_2015_03_01:72889001 +xref: UMLS_CUI:C0334530 +is_a: DOID:0050622 ! reproductive organ benign neoplasm + +[Term] +id: DOID:262 +name: kidney hemangiopericytoma +def: "A kidney cancer which is manifested in the kidney." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/] +synonym: "hemangiopericytoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254923001] +synonym: "renal hemangiopericytoma" EXACT [NCI2004_11_17:C4527] +xref: NCI:C4527 +xref: SNOMEDCT_US_2015_03_01:254923001 +xref: UMLS_CUI:C0346256 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:2620 +name: ductal, lobular, and medullary neoplasm +synonym: "ductal, lobular and medullary neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189704005] +synonym: "ductal, lobular and medullary tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134321001] +is_obsolete: true + +[Term] +id: DOID:2621 +name: autonomic nervous system neoplasm +def: "A peripheral nervous system neoplasm that is located_in the autonomic nervous system." [url:http\://en.wikipedia.org/wiki/Autonomic_nervous_system] +synonym: "tumor of Autonomic nervous system" EXACT [NCI2004_11_17:C5112] +xref: NCI:C5112 +xref: UMLS_CUI:C1332356 +is_a: DOID:1192 ! peripheral nervous system neoplasm + +[Term] +id: DOID:2622 +name: neuroblastic tumor +is_obsolete: true + +[Term] +id: DOID:2623 +name: neuronal and glio-neuronal neoplasm +synonym: "neuronal and Glio-neuronal tumor" EXACT [NCI2004_11_17:C4747] +synonym: "neuronal and mixed neuronal-glial tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:302831000] +is_obsolete: true + +[Term] +id: DOID:2626 +name: choroid plexus papilloma +alt_id: DOID:3661 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "childhood choroid plexus papilloma" EXACT [] +synonym: "childhood papilloma of choroid plexus" RELATED [] +synonym: "Choroid plexus papilloma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189911002] +synonym: "Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18021007] +synonym: "papilloma of the Choroid Plexus" EXACT [NCI2004_11_17:C3698] +synonym: "pediatric papilloma of Choroid Plexus" EXACT [NCI2004_11_17:C5800] +xref: MSH:D020288 +xref: NCI:C3698 +xref: NCI:C5800 +xref: OMIM:260500 +xref: SNOMEDCT_US_2015_03_01:18021007 +xref: SNOMEDCT_US_2015_03_01:189911002 +xref: UMLS_CUI:C0205770 +xref: UMLS_CUI:C1332963 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:2629 +name: papillary serous cystadenoma +synonym: "Papillary serous cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:22116003] +synonym: "Papillary serous cystadenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189688004] +is_obsolete: true + +[Term] +id: DOID:263 +name: kidney cancer +alt_id: DOID:11834 +alt_id: DOID:3676 +def: "A urinary system cancer that is located_in the kidney." [url:http\://en.wikipedia.org/wiki/Kidney_cancer] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of kidney except pelvis" EXACT [] +synonym: "malignant tumour of kidney" EXACT [SNOMEDCT_2005_07_31:154542008] +synonym: "renal cancer" EXACT [] +xref: ICD10CM:C64 +xref: ICD9CM:189.0 +xref: MSH:D007680 +xref: NCI:C3150 +xref: NCI:C7548 +xref: SNOMEDCT_US_2015_03_01:126880001 +xref: SNOMEDCT_US_2015_03_01:154542008 +xref: SNOMEDCT_US_2015_03_01:188249002 +xref: SNOMEDCT_US_2015_03_01:363518003 +xref: SNOMEDCT_US_2015_03_01:93849006 +xref: UMLS_CUI:C0022665 +xref: UMLS_CUI:C0494158 +xref: UMLS_CUI:C0740457 +is_a: DOID:3996 ! urinary system cancer + +[Term] +id: DOID:2630 +name: papillary cystadenoma +synonym: "Papillary Cystadenoma" EXACT [NCI2004_11_17:C2974] +synonym: "Papillary cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:32140001] +synonym: "Papillary cystadenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189686000] +is_obsolete: true + +[Term] +id: DOID:2631 +name: serous cystadenoma +synonym: "serous cystadenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189684002] +synonym: "serous Cystoma" EXACT [NCI2004_11_17:C3783] +synonym: "serous microcystic adenoma" EXACT [SNOMEDCT_2005_07_31:51608009] +is_obsolete: true + +[Term] +id: DOID:2632 +name: papillary serous adenocarcinoma +alt_id: DOID:5589 +def: "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies." [url:http\://www.uptodate.com/contents/topic.do?topicKey=OBGYN/3192] +synonym: "Micropapillary serous carcinoma" EXACT [NCI2004_11_17:C6882] +synonym: "Micropapillary serous carcinoma" EXACT [SNOMEDCT_2005_07_31:90282004] +synonym: "Papillary serous carcinoma" EXACT [NCI2004_11_17:C8377] +synonym: "serous surface papillary carcinoma" EXACT [] +synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15674004] +xref: NCI:C4182 +xref: NCI:C6882 +xref: NCI:C8377 +xref: SNOMEDCT_US_2015_03_01:15674004 +xref: SNOMEDCT_US_2015_03_01:90282004 +xref: UMLS_CUI:C0334359 +xref: UMLS_CUI:C0334361 +is_a: DOID:3112 ! papillary adenocarcinoma + +[Term] +id: DOID:2633 +name: mucinous cystadenoma +synonym: "mucinous adenoma" EXACT [NCI2004_11_17:C2973] +synonym: "mucinous adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:33170000] +synonym: "mucinous cystadenoma" EXACT [SNOMEDCT_2005_07_31:189691004] +synonym: "mucinous cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:67182003] +is_obsolete: true + +[Term] +id: DOID:2634 +name: cystadenoma +def: "An adenoma that is a cystic." [url:http\://en.wikipedia.org/wiki/Cystadenoma] +synonym: "Cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:47620003] +synonym: "Cystoma" EXACT [NCI2004_11_17:C2972] +xref: MSH:D003537 +xref: NCI:C2972 +xref: SNOMEDCT_US_2015_03_01:189680006 +xref: SNOMEDCT_US_2015_03_01:47620003 +xref: UMLS_CUI:C0010633 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:2635 +name: mucinous neoplasm +synonym: "mucinous tumor" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2636 +name: ovarian Brenner tumor +synonym: "Brenner tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:74739000] +synonym: "Brenner tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189819001] +synonym: "Brenner tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254859006] +synonym: "Brenner tumors (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189818009] +synonym: "Ovarian Brenner tumor" EXACT [NCI2004_11_17:C3872] +xref: MSH:D001948 +xref: NCI:C3872 +xref: NCI:C39954 +xref: SNOMEDCT_US_2015_03_01:189818009 +xref: SNOMEDCT_US_2015_03_01:189819001 +xref: SNOMEDCT_US_2015_03_01:254859006 +xref: SNOMEDCT_US_2015_03_01:74739000 +xref: UMLS_CUI:C0006160 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:2639 +name: breast pericanalicular fibroadenoma +synonym: "Pericanalicular fibroadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:41382006] +synonym: "Pericanalicular Fibroadenoma of breast" EXACT [NCI2004_11_17:C4272] +xref: NCI:C4272 +xref: SNOMEDCT_US_2015_03_01:41382006 +xref: UMLS_CUI:C0334497 +is_a: DOID:1618 ! breast fibroadenoma + +[Term] +id: DOID:264 +name: hemangiopericytoma +alt_id: DOID:5372 +def: "A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma] +synonym: "Haemangiopericytic meningioma [obs]" EXACT [SNOMEDCT_2005_07_31:36060005] +synonym: "hemangiopericytoma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:84664004] +synonym: "malignant hemangiopericytoma" EXACT [] +xref: MSH:D006393 +xref: NCI:C3087 +xref: SNOMEDCT_US_2015_03_01:134335004 +xref: SNOMEDCT_US_2015_03_01:36060005 +xref: UMLS_CUI:C0018922 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:2640 +name: struma ovarii +synonym: "Struma ovarii (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24327009] +synonym: "Struma ovarii NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189851000] +xref: MSH:D013330 +xref: NCI:C7468 +xref: SNOMEDCT_US_2015_03_01:189851000 +xref: SNOMEDCT_US_2015_03_01:24327009 +xref: UMLS_CUI:C0038478 +is_a: DOID:2641 ! ovarian germ cell monodermal and highly specialized teratoma + +[Term] +id: DOID:2641 +name: ovarian germ cell monodermal and highly specialized teratoma +synonym: "Ovarian Monodermal and Highly Specialized teratoma" EXACT [NCI2004_11_17:C8113] +xref: NCI:C8113 +xref: UMLS_CUI:C0280134 +is_a: DOID:5207 ! monodermal teratoma + +[Term] +id: DOID:2642 +name: lymphangiomyoma +synonym: "Lymphangioleiomyoma" EXACT [NCI2004_11_17:C3204] +synonym: "Lymphangiomyoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:25239006] +is_obsolete: true + +[Term] +id: DOID:2643 +name: perivascular epithelioid cell tumor +synonym: "neoplasm with Perivascular epithelioid cell differentiation" EXACT [NCI2004_11_17:C38150] +synonym: "PEComa" EXACT [] +xref: MSH:D054973 +xref: NCI:C38150 +xref: SNOMEDCT_US_2015_03_01:388601000 +xref: UMLS_CUI:C1300127 +is_a: DOID:3316 ! perivascular tumor + +[Term] +id: DOID:2645 +name: benign mesothelioma +alt_id: DOID:2644 +def: "A cell type benign neoplasm that has_material_basis in mesothelium." [url:http\://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817] +synonym: "benign tumor of Mesothelium" EXACT [NCI2004_11_17:C4280] +xref: ICD10CM:C45 +xref: ICD10CM:C45.9 +xref: MSH:D008654 +xref: NCI:C3234 +xref: SNOMEDCT_US_2015_03_01:154491004 +xref: SNOMEDCT_US_2015_03_01:187873000 +xref: SNOMEDCT_US_2015_03_01:189837000 +xref: SNOMEDCT_US_2015_03_01:190110008 +xref: SNOMEDCT_US_2015_03_01:62064005 +xref: UMLS_CUI:C0025500 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:2647 +name: parachordoma +synonym: "Parachordoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404086000] +synonym: "Parachordoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128786009] +xref: NCI:C6581 +xref: SNOMEDCT_US_2015_03_01:128786009 +xref: SNOMEDCT_US_2015_03_01:404086000 +xref: UMLS_CUI:C1266175 +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:2648 +name: sebaceous adenoma +alt_id: DOID:7387 +synonym: "adenoma of the Sebaceous gland" EXACT [NCI2004_11_17:C4174] +synonym: "Sebaceous adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:78424008] +synonym: "skin appendage sebaceous adenoma" EXACT [] +xref: NCI2009_04D:C4174 +xref: NCI:C4174 +xref: SNOMEDCT_US_2015_03_01:78424008 +xref: UMLS_CUI:C1368816 +is_a: DOID:5759 ! sebaceous gland neoplasm + +[Term] +id: DOID:2649 +name: chondroblastoma +synonym: "Chondroblastoma of bone" EXACT [SNOMEDCT_2005_07_31:134337007] +xref: MSH:D002804 +xref: NCI:C2945 +xref: SNOMEDCT_US_2015_03_01:134337007 +xref: SNOMEDCT_US_2015_03_01:189887007 +xref: SNOMEDCT_US_2015_03_01:9001003 +xref: UMLS_CUI:C0008441 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:265 +name: spleen angiosarcoma +def: "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen." [url:http\://radiology.rsna.org/content/235/1/106.full] +synonym: "angiosarcoma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:187821001] +synonym: "Splenic hemangiosarcoma" EXACT [NCI2004_11_17:C4564] +xref: NCI:C4564 +xref: SNOMEDCT_US_2015_03_01:187821001 +xref: UMLS_CUI:C0346424 +is_a: DOID:672 ! spleen cancer + +[Term] +id: DOID:2651 +name: intraductal papillomatosis +synonym: "Intraductal papillomatosis" EXACT [NCI2004_11_17:C7363] +synonym: "Intraductal papillomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:32296002] +synonym: "Intraductal papillomatosis NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189710005] +is_obsolete: true + +[Term] +id: DOID:2653 +name: benign fibrous mesothelioma +synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15702005] +synonym: "localized benign fibrous Mesothelioma" EXACT [NCI2004_11_17:C4281] +xref: MSH:D054363 +xref: NCI:C4457 +xref: SNOMEDCT_US_2015_03_01:15702005 +xref: SNOMEDCT_US_2015_03_01:254646001 +xref: UMLS_CUI:C0334511 +is_a: DOID:2645 ! benign mesothelioma + +[Term] +id: DOID:2654 +name: serous neoplasm +is_obsolete: true + +[Term] +id: DOID:2656 +name: breast intracanalicular fibroadenoma +xref: NCI:C4271 +xref: SNOMEDCT_US_2015_03_01:189821006 +xref: SNOMEDCT_US_2015_03_01:72905006 +xref: UMLS_CUI:C0334496 +is_a: DOID:1618 ! breast fibroadenoma + +[Term] +id: DOID:2658 +name: dermoid cyst +synonym: "cystic dermoid choristoma" EXACT [SNOMEDCT_2005_07_31:416529009] +synonym: "Dermoid choristoma" EXACT [SNOMEDCT_2005_07_31:417137001] +synonym: "Dermoid tumour" EXACT [SNOMEDCT_2005_07_31:417609007] +synonym: "Mature cystic teratoma" EXACT [NCI2004_11_17:C9011] +synonym: "teratoma, benign" EXACT [SNOMEDCT_2005_07_31:189119004] +synonym: "teratoma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:42717009] +xref: ICD10CM:K09.8 +xref: MSH:D003884 +xref: NCI:C9011 +xref: SNOMEDCT_US_2015_03_01:123151001 +xref: SNOMEDCT_US_2015_03_01:189117002 +xref: SNOMEDCT_US_2015_03_01:189845005 +xref: SNOMEDCT_US_2015_03_01:269641006 +xref: SNOMEDCT_US_2015_03_01:416529009 +xref: SNOMEDCT_US_2015_03_01:417137001 +xref: SNOMEDCT_US_2015_03_01:417609007 +xref: SNOMEDCT_US_2015_03_01:419952004 +xref: SNOMEDCT_US_2015_03_01:439575008 +xref: SNOMEDCT_US_2015_03_01:72277008 +xref: UMLS_CUI:C0011649 +is_a: DOID:2660 ! cystic teratoma + +[Term] +id: DOID:266 +name: malignant soft tissue neoplasm of the spleen +synonym: "malignant soft tissue tumor of Spleen" EXACT [NCI2004_11_17:C7292] +is_obsolete: true + +[Term] +id: DOID:2660 +name: cystic teratoma +xref: NCI:C9014 +xref: SNOMEDCT_US_2015_03_01:42717009 +xref: UMLS_CUI:C1368903 +is_a: DOID:3307 ! teratoma + +[Term] +id: DOID:2661 +name: myoepithelioma +def: "A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland." [url:http\://medical-dictionary.thefreedictionary.com/myoepithelioma] +synonym: "benign myoepithelioma" EXACT [NCI2004_11_17:C7442] +synonym: "Myoepithelial adenoma" EXACT [SNOMEDCT_2005_07_31:69291002] +synonym: "Myoepithelial neoplasm" EXACT [NCI2004_11_17:C40392] +xref: MSH:D009208 +xref: NCI:C40392 +xref: SNOMEDCT_US_2015_03_01:69291002 +xref: UMLS_CUI:C0027070 +is_a: DOID:2664 ! sweat gland neoplasm + +[Term] +id: DOID:2664 +name: sweat gland neoplasm +synonym: "neoplasm of sweat gland (disorder)" EXACT [SNOMEDCT_2005_07_31:126490003] +synonym: "Sweat gland tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12933008] +synonym: "Sweat gland tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189665000] +synonym: "tumor of the Sweat gland" EXACT [NCI2004_11_17:C3398] +xref: MSH:D013544 +xref: NCI:C3398 +xref: SNOMEDCT_US_2015_03_01:126490003 +xref: SNOMEDCT_US_2015_03_01:12933008 +xref: SNOMEDCT_US_2015_03_01:189665000 +xref: UMLS_CUI:C0038987 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:2667 +name: benign mesenchymoma +synonym: "Mesenchymoma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:38406003] +xref: NCI:C4267 +xref: SNOMEDCT_US_2015_03_01:38406003 +xref: UMLS_CUI:C0334491 +is_a: DOID:2668 ! mesenchymoma + +[Term] +id: DOID:2668 +name: mesenchymoma +xref: MSH:D008637 +xref: NCI:C3233 +xref: SNOMEDCT_US_2015_03_01:189809007 +xref: SNOMEDCT_US_2015_03_01:44524009 +xref: UMLS_CUI:C0025464 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:2669 +name: Pacinian tumor +synonym: "Pacinian Neurofibroma" EXACT [NCI2004_11_17:C4328] +synonym: "Pacinian neurofibroma (disorder)" EXACT [SNOMEDCT_2005_07_31:404033003] +synonym: "Pacinian tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4230004] +xref: NCI:C4328 +xref: SNOMEDCT_US_2015_03_01:404033003 +xref: SNOMEDCT_US_2015_03_01:4230004 +xref: UMLS_CUI:C0334599 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:2670 +name: transitional papilloma +synonym: "transitional cell papilloma" EXACT [SNOMEDCT_2005_07_31:45083001] +synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189575005] +synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:44342003] +xref: NCI:C4115 +xref: SNOMEDCT_US_2015_03_01:189575005 +xref: SNOMEDCT_US_2015_03_01:44342003 +xref: SNOMEDCT_US_2015_03_01:45083001 +xref: UMLS_CUI:C0334266 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:2671 +name: transitional cell carcinoma +alt_id: DOID:3995 +def: "A carcinoma that derives_from transitional epithelial cells." [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma] +synonym: "transitional carcinoma" EXACT [NCI2004_11_17:C2930] +synonym: "transitional cell neoplasm" RELATED [] +synonym: "transitional cell tumor" EXACT [NCI2004_11_17:C6783] +synonym: "urothelial cell carcinoma " EXACT [] +xref: MSH:D002295 +xref: NCI:C2930 +xref: NCI:C6783 +xref: SNOMEDCT_US_2015_03_01:118287003 +xref: SNOMEDCT_US_2015_03_01:189576006 +xref: SNOMEDCT_US_2015_03_01:27090000 +xref: UMLS_CUI:C0007138 +xref: UMLS_CUI:C0334265 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:2673 +name: cystic nephroma +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:2676 +name: papillary pseudomucinous cystadenoma +synonym: "Papillary mucinous cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36721002] +synonym: "Papillary mucinous cystadenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189693001] +is_obsolete: true + +[Term] +id: DOID:2678 +name: adult mesoblastic nephroma +def: "A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants." [url:http\://www.ncbi.nlm.nih.gov/pubmed/9669345] +synonym: "benign MEST" EXACT [NCI2004_11_17:C37264] +synonym: "MEST" EXACT [NCI2004_11_17:C37263] +synonym: "mixed epithelial and stromal tumour of kidney" EXACT [SNOMEDCT_2005_07_31:388985009] +xref: NCI:C37263 +xref: NCI:C37264 +xref: SNOMEDCT_US_2015_03_01:388985009 +xref: UMLS_CUI:C1272677 +is_a: DOID:154 ! mixed cell type cancer + +[Term] +id: DOID:2679 +name: dysembryoplastic neuroepithelial tumor +synonym: "Dysembryoplastic Neuroepithelial neoplasm" EXACT [NCI2004_11_17:C9505] +synonym: "Dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128788005] +xref: NCI:C9505 +xref: SNOMEDCT_US_2015_03_01:128788005 +xref: UMLS_CUI:C1266177 +is_a: DOID:0060090 ! central nervous system organ benign neoplasm + +[Term] +id: DOID:268 +name: liver angiosarcoma +def: "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver." [url:http\://emedicine.medscape.com/article/276512-overview] +synonym: "angiosarcoma of liver" EXACT [SNOMEDCT_2005_07_31:187770005] +synonym: "angiosarcoma of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:109844006] +synonym: "hemangiosarcoma of the Liver" EXACT [NCI2004_11_17:C4438] +xref: ICD10CM:C22.3 +xref: NCI:C4438 +xref: SNOMEDCT_US_2015_03_01:109844006 +xref: SNOMEDCT_US_2015_03_01:187770005 +xref: UMLS_CUI:C0345907 +is_a: DOID:0001816 ! angiosarcoma + +[Term] +id: DOID:2680 +name: pediatric central nervous system tumor +synonym: "pediatric neoplasm of CNS" EXACT [NCI2004_11_17:C5132] +is_obsolete: true + +[Term] +id: DOID:2681 +name: nevus +synonym: "Mole NOS" EXACT [MTHICD9_2006:631] +synonym: "Mole of skin" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "Mole of skin" EXACT [SNOMEDCT_2005_07_31:109265005] +synonym: "nevus" EXACT [MTH:NOCODE] +synonym: "nevus" EXACT [CSP2005:0726-9782] +synonym: "nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:247456007] +synonym: "nevus, NOS" EXACT [SNOMEDCT_2005_07_31:21119008] +synonym: "skin mole, NOS" EXACT [SNOMEDCT_2005_07_31:51697005] +is_obsolete: true + +[Term] +id: DOID:2682 +name: intracystic papillary adenoma +synonym: "Intracystic papillary adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:47488001] +synonym: "Intracystic papilloma" EXACT [NCI2004_11_17:C4191] +xref: NCI:C4191 +xref: SNOMEDCT_US_2015_03_01:47488001 +xref: UMLS_CUI:C0334374 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:2683 +name: adenofibroma +def: "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands." [url:http\://www.ncbi.nlm.nih.gov/mesh/68000232] +synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2962009] +xref: MSH:D000232 +xref: NCI:C8984 +xref: SNOMEDCT_US_2015_03_01:189823009 +xref: SNOMEDCT_US_2015_03_01:2962009 +xref: UMLS_CUI:C0001422 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:2685 +name: ossifying fibromyxoid tumor +synonym: "Ossifying fibromyxoid tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404076001] +synonym: "Ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128745002] +synonym: "Ossifying Fibromyxoma" EXACT [NCI2004_11_17:C6582] +xref: NCI:C6582 +xref: SNOMEDCT_US_2015_03_01:128745002 +xref: SNOMEDCT_US_2015_03_01:404076001 +xref: UMLS_CUI:C1266128 +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:2687 +name: skin sarcoma +synonym: "Cutaneous sarcoma" EXACT [NCI2004_11_17:C5585] +xref: NCI:C5585 +xref: UMLS_CUI:C0856900 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:2689 +name: lymphangiosarcoma +alt_id: DOID:2686 +def: "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels." [ISBN:0-7817-2229-2, PMID:9796078, url:https\://en.wikipedia.org/wiki/Lymphangiosarcoma] +synonym: "Lymphangiosarcoma of Stewart and Treves" EXACT [NCI2004_11_17:C4490] +synonym: "malignant Lymphangioendothelioma" EXACT [NCI2004_11_17:C3205] +synonym: "skin lymphangiosarcoma" EXACT [] +synonym: "Stewart-Treves syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:62497000] +xref: MSH:C537491 +xref: MSH:D008204 +xref: NCI:C3205 +xref: NCI:C4490 +xref: SNOMEDCT_US_2015_03_01:403986008 +xref: SNOMEDCT_US_2015_03_01:62497000 +xref: SNOMEDCT_US_2015_03_01:63373002 +xref: UMLS_CUI:C0024224 +xref: UMLS_CUI:C0346082 +is_a: DOID:0060073 ! lymphatic system cancer + +[Term] +id: DOID:2691 +name: myoma +synonym: "benign neoplasm of the Muscle" EXACT [NCI2004_11_17:C4882] +xref: ICD10CM:D21 +xref: MSH:D009214 +xref: NCI:C4882 +xref: SNOMEDCT_US_2015_03_01:66357004 +xref: SNOMEDCT_US_2015_03_01:92237006 +xref: UMLS_CUI:C0027086 +is_a: DOID:461 ! muscle benign neoplasm + +[Term] +id: DOID:2696 +name: Leydig cell tumor +synonym: "Leydig cell neoplasm" EXACT [NCI2004_11_17:C3188] +xref: MSH:D007984 +xref: NCI:C3188 +xref: SNOMEDCT_US_2015_03_01:189739005 +xref: SNOMEDCT_US_2015_03_01:45002009 +xref: UMLS_CUI:C0023601 +is_a: DOID:4757 ! sex cord-stromal neoplasm + +[Term] +id: DOID:2697 +name: renal adenoma +synonym: "renal cell adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:41627005] +xref: NCI:C8383 +xref: SNOMEDCT_US_2015_03_01:41627005 +xref: UMLS_CUI:C0334684 +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:2698 +name: nephrogenic adenofibroma +synonym: "Metanephric adenofibroma" EXACT [NCI2004_11_17:C39812] +synonym: "Metanephric adenofibroma" EXACT [SNOMEDCT_2005_07_31:128760004] +xref: NCI:C39812 +xref: SNOMEDCT_US_2015_03_01:128760004 +xref: UMLS_CUI:C1266141 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:2699 +name: sinonasal papilloma +synonym: "Schneiderian papilloma" EXACT [NCI2004_11_17:C4117] +is_obsolete: true + +[Term] +id: DOID:270 +name: liver sarcoma +def: "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver." [url:http\://www.cancersupportivecare.com/liver.html] +synonym: "hepatic sarcoma" EXACT [NCI2004_11_17:C4437] +xref: NCI:C4437 +xref: SNOMEDCT_US_2015_03_01:254601002 +xref: UMLS_CUI:C0345906 +is_a: DOID:3571 ! liver cancer + +[Term] +id: DOID:2700 +name: mucinous adenofibroma +xref: NCI:C8978 +xref: SNOMEDCT_US_2015_03_01:10705005 +xref: UMLS_CUI:C0334499 +is_a: DOID:2683 ! adenofibroma + +[Term] +id: DOID:2701 +name: nodular tenosynovitis +alt_id: DOID:2665 +synonym: "benign synovioma" EXACT [] +synonym: "benign tumor of Synovium" EXACT [NCI2004_11_17:C3829] +synonym: "localized Giant cell tumor of Tenosynovium" EXACT [NCI2004_11_17:C6532] +synonym: "Synovioma, benign (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5178002] +xref: NCI:C3829 +xref: NCI:C6532 +xref: SNOMEDCT_US_2015_03_01:5178002 +xref: SNOMEDCT_US_2015_03_01:703702007 +xref: SNOMEDCT_US_2015_03_01:71508003 +xref: SNOMEDCT_US_2015_03_01:95413004 +xref: UMLS_CUI:C0221289 +xref: UMLS_CUI:C0588125 +is_a: DOID:0060123 ! connective tissue benign neoplasm + +[Term] +id: DOID:2702 +name: pigmented villonodular synovitis +synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [NCI2004_11_17:C3401] +synonym: "villous tenosynovitis" EXACT [SNOMEDCT_2005_07_31:71508003] +xref: ICD10CM:M12.2 +xref: MSH:D013586 +xref: NCI:C3401 +xref: SNOMEDCT_US_2015_03_01:202903009 +xref: SNOMEDCT_US_2015_03_01:703703002 +xref: SNOMEDCT_US_2015_03_01:71508003 +xref: SNOMEDCT_US_2015_03_01:95412009 +xref: UMLS_CUI:C0039106 +is_a: DOID:2703 ! synovitis + +[Term] +id: DOID:2703 +name: synovitis +def: "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling." [sn:IEDB] +xref: MSH:D013585 +xref: NCI:C50766 +xref: SNOMEDCT_US_2015_03_01:14107000 +xref: SNOMEDCT_US_2015_03_01:156666009 +xref: SNOMEDCT_US_2015_03_01:268092005 +xref: SNOMEDCT_US_2015_03_01:416209007 +xref: UMLS_CUI:C0039103 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:2704 +name: malignant giant cell tumor of the tendon sheath +synonym: "Giant cell tumour of tendon sheath, malignant" EXACT [SNOMEDCT_2005_07_31:128778009] +synonym: "malignant Giant cell neoplasm of the Tendon Sheath" EXACT [NCI2004_11_17:C6535] +xref: NCI:C6535 +xref: SNOMEDCT_US_2015_03_01:128778009 +xref: UMLS_CUI:C1266168 +is_a: DOID:2706 ! synovium cancer + +[Term] +id: DOID:2705 +name: malignant giant cell tumor +synonym: "malignant Giant cell neoplasm" EXACT [NCI2004_11_17:C4090] +synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:83950009] +xref: NCI:C4090 +xref: SNOMEDCT_US_2015_03_01:83950009 +xref: UMLS_CUI:C0334229 +is_a: DOID:200 ! giant cell tumor + +[Term] +id: DOID:2706 +name: synovium cancer +synonym: "malignant tumor of Synovium" EXACT [NCI2004_11_17:C6531] +xref: NCI:C6531 +xref: UMLS_CUI:C1334624 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:2708 +name: mushroom workers' lung +def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf] +synonym: "Mushroom workers' lung (disorder)" EXACT [SNOMEDCT_2005_07_31:52333004] +xref: ICD10CM:J67.5 +xref: ICD9CM:495.5 +xref: MSH:D005203 +xref: SNOMEDCT_US_2015_03_01:52333004 +xref: UMLS_CUI:C0155889 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:271 +name: hemangioma of liver +synonym: "Angioma of Liver" EXACT [NCI2004_11_17:C3869] +synonym: "hepatic angioma (disorder)" EXACT [SNOMEDCT_2005_07_31:235879002] +xref: NCI:C3869 +xref: SNOMEDCT_US_2015_03_01:235879002 +xref: SNOMEDCT_US_2015_03_01:93469006 +xref: UMLS_CUI:C0238246 +is_a: DOID:254 ! hemangioma of intra-abdominal structure + +[Term] +id: DOID:2710 +name: sick building syndrome +def: "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome] +xref: MSH:D018877 +xref: SNOMEDCT_US_2015_03_01:19076009 +xref: UMLS_CUI:C0037050 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:2712 +name: phimosis +synonym: "Phimosis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:52743003] +synonym: "Tight foreskin" EXACT [MTHICD9_2006:605] +synonym: "Tight foreskin (finding)" EXACT [SNOMEDCT_2005_07_31:198006006] +synonym: "Tight frenulum" EXACT [SNOMEDCT_2005_07_31:198005005] +xref: ICD10CM:N47.1 +xref: MSH:D010688 +xref: NCI:C26852 +xref: SNOMEDCT_US_2015_03_01:155921009 +xref: SNOMEDCT_US_2015_03_01:198005005 +xref: SNOMEDCT_US_2015_03_01:198006006 +xref: SNOMEDCT_US_2015_03_01:198007002 +xref: SNOMEDCT_US_2015_03_01:266571009 +xref: SNOMEDCT_US_2015_03_01:449826002 +xref: SNOMEDCT_US_2015_03_01:52743003 +xref: UMLS_CUI:C0031538 +is_a: DOID:1529 ! penile disease + +[Term] +id: DOID:2717 +name: Bloom syndrome +def: "An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability." [PMID:10823897, PMID:9482582, url:http\://ghr.nlm.nih.gov/condition/bloom-syndrome, url:https\://en.wikipedia.org/wiki/Bloom_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Bloom-Torre-Machacek syndrome" EXACT [CSP2005:1254-7913] +synonym: "Congenital Telangiectatic Erythema syndrome" EXACT [NCI2004_11_17:C2903] +xref: MSH:D001816 +xref: NCI:C2903 +xref: OMIM:210900 +xref: ORDO:125 +xref: SNOMEDCT_US_2015_03_01:4434006 +xref: UMLS_CUI:C0005859 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:2718 +name: hemopneumothorax +synonym: "Hemopneumothorax (disorder)" EXACT [SNOMEDCT_2005_07_31:16632002] +xref: ICD10CM:J94.2 +xref: MSH:D006468 +xref: SNOMEDCT_US_2015_03_01:16632002 +xref: UMLS_CUI:C0019077 +is_a: DOID:1673 ! pneumothorax + +[Term] +id: DOID:272 +name: hepatic vascular disease +def: "A vascular disease that is located_in the liver." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21055687] +synonym: "vascular disorder of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:235878005] +xref: NCI:C35442 +xref: SNOMEDCT_US_2015_03_01:235878005 +xref: UMLS_CUI:C0400923 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:2722 +name: acrodermatitis +def: "A dermatitis that selectively affects the hands and feet." [url:http\://en.wikipedia.org/wiki/Acrodermatitis] +xref: CSP:4008-0032 +xref: MSH:D000169 +xref: NCI:C84532 +xref: SNOMEDCT_US_2015_03_01:8197001 +xref: UMLS_CUI:C0001197 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:2723 +name: dermatitis +alt_id: DOID:8614 +alt_id: DOID:8917 +def: "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin." [url:http\://en.wikipedia.org/wiki/Dermatitis, url:http\://www.nlm.nih.gov/medlineplus/eczema.html] +synonym: "eczema" EXACT [] +synonym: "skin inflammation" EXACT [] +xref: ICD10CM:L30.9 +xref: MSH:D003872 +xref: NCI:C2983 +xref: SNOMEDCT_US_2015_03_01:156358005 +xref: SNOMEDCT_US_2015_03_01:156388001 +xref: SNOMEDCT_US_2015_03_01:182782007 +xref: SNOMEDCT_US_2015_03_01:200884006 +xref: SNOMEDCT_US_2015_03_01:238538009 +xref: SNOMEDCT_US_2015_03_01:267847004 +xref: SNOMEDCT_US_2015_03_01:267856007 +xref: SNOMEDCT_US_2015_03_01:43116000 +xref: SNOMEDCT_US_2015_03_01:4979002 +xref: UMLS_CUI:C0011603 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2724 +name: port-wine stain +synonym: "Cavernous naevus" EXACT [SNOMEDCT_2005_07_31:189192007] +synonym: "Naevus flammeus" EXACT [SNOMEDCT_2005_07_31:205560007] +synonym: "Port Wine type hemangioma" EXACT [NCI2004_11_17:C3840] +is_obsolete: true + +[Term] +id: DOID:2725 +name: capillary hemangioma +synonym: "Capillary hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:402867006] +synonym: "Capillary hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:83343001] +synonym: "cellular hemangioma of Infancy (Strawberry nevus)" EXACT [NCI2004_11_17:C7394] +synonym: "Congenital vascular hamartoma" EXACT [SNOMEDCT_2005_07_31:254206003] +synonym: "Congenital vascular naevus" EXACT [SNOMEDCT_2005_07_31:205560007] +synonym: "Infantile hemangioma" EXACT [NCI2004_11_17:C7459] +synonym: "Juvenile hemangioma" EXACT [NCI2004_11_17:C7458] +synonym: "Strawberry haemangioma" EXACT [SNOMEDCT_2005_07_31:157014007] +synonym: "Strawberry haemangioma" EXACT [SNOMEDCT_2005_07_31:254781005] +synonym: "Strawberry nevus" EXACT [MTHICD9_2006:757.32] +synonym: "Strawberry nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:56975005] +xref: ICD10CM:Q82.5 +xref: MSH:D018324 +xref: NCI:C6645 +xref: SNOMEDCT_US_2015_03_01:205560007 +xref: SNOMEDCT_US_2015_03_01:254206003 +xref: SNOMEDCT_US_2015_03_01:402867006 +xref: SNOMEDCT_US_2015_03_01:56975005 +xref: SNOMEDCT_US_2015_03_01:83343001 +xref: UMLS_CUI:C0206733 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:2726 +name: acne nevus +synonym: "nevus comedonicus (disorder)" EXACT [SNOMEDCT_2005_07_31:35962006] +synonym: "Pilosebaceous Nevoid disorder" EXACT [NCI2004_11_17:C3946] +is_obsolete: true + +[Term] +id: DOID:2728 +name: Pilosebaceous hamartoma +is_obsolete: true + +[Term] +id: DOID:2729 +name: dyskeratosis congenita +def: "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." [url:http\://en.wikipedia.org/wiki/Dyskeratosis_congenita, url:http\://ghr.nlm.nih.gov/condition/dyskeratosis-congenita] +comment: Xref MGI.\nOMIM mapping by NeuroDevNet. [LS]. +subset: DO_MGI_slim +xref: MSH:D019871 +xref: NCI:C111802 +xref: OMIM:127550 +xref: OMIM:224230 +xref: OMIM:305000 +xref: OMIM:613988 +xref: OMIM:613989 +xref: OMIM:613990 +xref: OMIM:615190 +xref: ORDO:1775 +xref: SNOMEDCT_US_2015_03_01:74911008 +xref: UMLS_CUI:C0265965 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2730 +name: epidermolysis bullosa +synonym: "acantholysis bullosa" EXACT [CSP2005:0726-9169] +synonym: "Epidermolysis bullosa" EXACT [MTHICD9_2006:757.39] +synonym: "Epidermolysis bullosa" EXACT [SNOMEDCT_2005_07_31:205580008] +synonym: "Epidermolysis bullosa (disorder)" EXACT [SNOMEDCT_2005_07_31:61003004] +xref: ICD10CM:Q81 +xref: ICD10CM:Q81.9 +xref: MSH:D004820 +xref: NCI:C67383 +xref: SNOMEDCT_US_2015_03_01:205580008 +xref: SNOMEDCT_US_2015_03_01:61003004 +xref: UMLS_CUI:C0014527 +is_a: DOID:2731 ! vesiculobullous skin disease + +[Term] +id: DOID:2731 +name: vesiculobullous skin disease +xref: MSH:D012872 +xref: UMLS_CUI:C0037275 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2732 +name: Rothmund-Thomson syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital poikiloderma" EXACT [MTHICD9_2006:757.33] +synonym: "Rothmund-Thomson syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:69093006] +synonym: "RTS" EXACT [NCI2004_11_17:C3335] +xref: ICD10CM:Q82.8 +xref: MSH:D011038 +xref: NCI:C3335 +xref: OMIM:268400 +xref: SNOMEDCT_US_2015_03_01:205565002 +xref: SNOMEDCT_US_2015_03_01:205572001 +xref: SNOMEDCT_US_2015_03_01:69093006 +xref: UMLS_CUI:C0032339 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2733 +name: skin atrophy +synonym: "atrophic condition of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:400190005] +synonym: "atrophic condition of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:16343004] +synonym: "Atrophoderma" EXACT [MTHICD9_2006:701.9] +synonym: "Atrophoderma" EXACT [SNOMEDCT_2005_07_31:201090001] +synonym: "Atrophoderma (disorder)" EXACT [SNOMEDCT_2005_07_31:399979006] +synonym: "Atrophy - skin" EXACT [SNOMEDCT_2005_07_31:267857003] +synonym: "Atrophy - skin" EXACT [SNOMEDCT_2005_07_31:156391001] +xref: ICD10CM:L90 +xref: ICD10CM:L90.9 +xref: NCI:C35163 +xref: SNOMEDCT_US_2015_03_01:156391001 +xref: SNOMEDCT_US_2015_03_01:16343004 +xref: SNOMEDCT_US_2015_03_01:201090001 +xref: SNOMEDCT_US_2015_03_01:267857003 +xref: SNOMEDCT_US_2015_03_01:399979006 +xref: SNOMEDCT_US_2015_03_01:400190005 +xref: UMLS_CUI:C0151514 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:2734 +name: keratosis follicularis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Darier's disease" EXACT [SNOMEDCT_2005_07_31:240633005] +synonym: "Darier's disease" EXACT [SNOMEDCT_2005_07_31:205582000] +synonym: "Darier's disease" EXACT [SNOMEDCT_2005_07_31:157017000] +synonym: "Darier's disease" EXACT [SNOMEDCT_2005_07_31:268355000] +synonym: "Darier's disease" EXACT [CSP2005:0726-9627] +synonym: "DARIER-WHITE DISEASE" EXACT [] +synonym: "Keratosis follicularis (disorder)" EXACT [SNOMEDCT_2005_07_31:48611009] +xref: ICD10CM:E50.8 +xref: MSH:D007644 +xref: NCI:C84665 +xref: OMIM:124200 +xref: SNOMEDCT_US_2015_03_01:157017000 +xref: SNOMEDCT_US_2015_03_01:205582000 +xref: SNOMEDCT_US_2015_03_01:240633005 +xref: SNOMEDCT_US_2015_03_01:268355000 +xref: SNOMEDCT_US_2015_03_01:48611009 +xref: UMLS_CUI:C0022595 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:2736 +name: Hajdu-Cheney syndrome +alt_id: DOID:2735 +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D030981 +xref: MSH:D031845 +xref: NCI:C35545 +xref: NCI:C84745 +xref: OMIM:102500 +xref: SNOMEDCT_US_2015_03_01:27201004 +xref: SNOMEDCT_US_2015_03_01:63122002 +xref: UMLS_CUI:C0917715 +xref: UMLS_CUI:C0917990 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:2737 +name: Witkop-Von Sallmann disease +synonym: "Hereditary benign intraepithelial dyskeratosis" EXACT [MTH:NOCODE] +synonym: "Hereditary benign intraepithelial dyskeratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:68897000] +synonym: "Hereditary benign intraepithelial dyskeratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:400014002] +is_obsolete: true + +[Term] +id: DOID:2738 +name: pseudoxanthoma elasticum +def: "An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." [url:http\://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, url:http\://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Gronblad-Strandberg syndrome" EXACT [] +xref: MSH:D011561 +xref: NCI:C85036 +xref: OMIM:177850 +xref: OMIM:264800 +xref: ORDO:758 +xref: SNOMEDCT_US_2015_03_01:157017000 +xref: SNOMEDCT_US_2015_03_01:205574000 +xref: SNOMEDCT_US_2015_03_01:239140003 +xref: SNOMEDCT_US_2015_03_01:252246005 +xref: SNOMEDCT_US_2015_03_01:268355000 +xref: SNOMEDCT_US_2015_03_01:7109007 +xref: UMLS_CUI:C0033847 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:2739 +name: Gilbert syndrome +def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." [url:http\://en.wikipedia.org/wiki/Gilbert%27s_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Constitutional hyperbilirubinemia" EXACT [MTHICD9_2006:277.4] +synonym: "Gilbert's disease" EXACT [SNOMEDCT_2005_07_31:154770008] +synonym: "Gilbert's syndrome" EXACT [] +synonym: "Gilbert-Meulengracht syndrome" EXACT [] +synonym: "hereditary nonhemolytic jaundice" EXACT [CSP2005:1654-1020] +xref: ICD10CM:E80.4 +xref: MSH:D005878 +xref: NCI:C84729 +xref: OMIM:143500 +xref: SNOMEDCT_US_2015_03_01:154770008 +xref: SNOMEDCT_US_2015_03_01:267509000 +xref: SNOMEDCT_US_2015_03_01:27503000 +xref: UMLS_CUI:C0017551 +is_a: DOID:2741 ! bilirubin metabolic disorder + +[Term] +id: DOID:2741 +name: bilirubin metabolic disorder +alt_id: DOID:2740 +def: "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism." [url:http\://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia] +synonym: "hereditary hyperbilirubinemia" EXACT [CSP2005:1654-1020] +synonym: "hyperbilirubinaemia" RELATED [SNOMEDCT_2005_07_31:154770008] +synonym: "hyperbilirubinemia" EXACT [] +xref: MSH:D006932 +xref: MSH:D006933 +xref: NCI:C84761 +xref: SNOMEDCT_US_2015_03_01:143932000 +xref: SNOMEDCT_US_2015_03_01:14783006 +xref: SNOMEDCT_US_2015_03_01:154770008 +xref: SNOMEDCT_US_2015_03_01:166612004 +xref: SNOMEDCT_US_2015_03_01:20505009 +xref: SNOMEDCT_US_2015_03_01:235904007 +xref: SNOMEDCT_US_2015_03_01:267509000 +xref: UMLS_CUI:C0020433 +xref: UMLS_CUI:C0020435 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:2742 +name: auditory system disease +alt_id: DOID:1490 +alt_id: DOID:2011 +synonym: "Destruction - ear drum" EXACT [SNOMEDCT_2005_07_31:155253008] +synonym: "Destruction - ear drum" EXACT [SNOMEDCT_2005_07_31:267768008] +synonym: "disorder of ear (disorder)" EXACT [SNOMEDCT_2005_07_31:25906001] +synonym: "ear and mastoid disease" EXACT [] +synonym: "ear disease" EXACT [SNOMEDCT_2005_07_31:194193002] +synonym: "ear disorder" EXACT [NCI2004_11_17:C26757] +synonym: "ear disorder" EXACT [CSP2005:0977-5187] +synonym: "ear disorder NOS" EXACT [SNOMEDCT_2005_07_31:155261003] +synonym: "ear disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194410006] +synonym: "Unspecified disorder of ear" EXACT [ICD9CM_2006:388.9] +xref: ICD10CM:H93.9 +xref: ICD10CM:H93.90 +xref: ICD9CM:388.9 +xref: MSH:D004427 +xref: NCI:C26757 +xref: SNOMEDCT_US_2015_03_01:155253008 +xref: SNOMEDCT_US_2015_03_01:155261003 +xref: SNOMEDCT_US_2015_03_01:194193002 +xref: SNOMEDCT_US_2015_03_01:194410006 +xref: SNOMEDCT_US_2015_03_01:25906001 +xref: SNOMEDCT_US_2015_03_01:267768008 +xref: UMLS_CUI:C0013447 +is_a: DOID:0050155 ! sensory system disease + +[Term] +id: DOID:2743 +name: pyeloureteritis cystica +synonym: "Pyeloureteritis cystica (disorder)" EXACT [SNOMEDCT_2005_07_31:37779008] +xref: ICD10CM:N28.85 +xref: ICD9CM:590.3 +xref: SNOMEDCT_US_2015_03_01:155864003 +xref: SNOMEDCT_US_2015_03_01:197776002 +xref: SNOMEDCT_US_2015_03_01:266555009 +xref: SNOMEDCT_US_2015_03_01:37779008 +xref: UMLS_CUI:C0156254 +is_a: DOID:2744 ! pyelitis + +[Term] +id: DOID:2744 +name: pyelitis +synonym: "Pyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:27174002] +synonym: "Pyelitis NOS" EXACT [MTHICD9_2006:590.80] +synonym: "Pyelitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197780007] +xref: ICD10CM:N12 +xref: MSH:D011702 +xref: NCI:C34964 +xref: SNOMEDCT_US_2015_03_01:197780007 +xref: SNOMEDCT_US_2015_03_01:27174002 +xref: UMLS_CUI:C0034183 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2745 +name: narcissistic personality disorder +def: "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity." [url:http\://en.wikipedia.org/wiki/Narcissistic_personality_disorder] +xref: ICD10CM:F60.81 +xref: ICD9CM:301.81 +xref: MSH:D010554 +xref: NCI:C92635 +xref: SNOMEDCT_US_2015_03_01:192493008 +xref: SNOMEDCT_US_2015_03_01:80711002 +xref: UMLS_CUI:C0027402 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:2746 +name: glycogen storage disease V +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "glycogen storage disease type V" EXACT [] +synonym: "Glycogen storage disease, type V (disorder)" EXACT [SNOMEDCT_2005_07_31:55912009] +synonym: "McArdle's disease" EXACT [MTHICD9_2006:271.0] +synonym: "myophosphorylase deficiency" EXACT [CSP2005:1849-4007] +xref: ICD10CM:E74.04 +xref: MSH:D006012 +xref: NCI:C84738 +xref: OMIM:232600 +xref: SNOMEDCT_US_2015_03_01:55912009 +xref: UMLS_CUI:C0017924 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2747 +name: glycogen storage disease +def: "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease, url:http\://www.slideshare.net/anjupaed/glcogen-storage-disorders] +synonym: "glycogenoses" NARROW [] +synonym: "glycogenosis" EXACT [CSP2005:4000-0193] +xref: ICD10CM:E74.0 +xref: ICD10CM:E74.00 +xref: ICD9CM:271.0 +xref: MSH:D006008 +xref: NCI:C61272 +xref: SNOMEDCT_US_2015_03_01:154738008 +xref: SNOMEDCT_US_2015_03_01:190744005 +xref: SNOMEDCT_US_2015_03_01:267498002 +xref: SNOMEDCT_US_2015_03_01:29633007 +xref: UMLS_CUI:C0017919 +is_a: DOID:0050728 ! glycogen metabolism disorder + +[Term] +id: DOID:2748 +name: glycogen storage disease III +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "amylo 1,6 glucosidase deficiency" EXACT [CSP2005:1849-3893] +synonym: "deficiency of debranching enzyme" EXACT [SNOMEDCT_2005_07_31:124474000] +synonym: "deficiency of dextrin" EXACT [SNOMEDCT_2005_07_31:124472001] +synonym: "Glycogen storage disease, type III (disorder)" EXACT [SNOMEDCT_2005_07_31:66937008] +xref: ICD10CM:E74.03 +xref: MSH:D006010 +xref: NCI:C84736 +xref: OMIM:232400 +xref: SNOMEDCT_US_2015_03_01:124474000 +xref: SNOMEDCT_US_2015_03_01:66937008 +xref: UMLS_CUI:C0017922 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2749 +name: glycogen storage disease I +def: "A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, url:http\://en.wikipedia.org/wiki/Von_Gierke%27s_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1312/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency of glucose-6-phosphatase" EXACT [SNOMEDCT_2005_07_31:124437004] +synonym: "glycogen storage disease type I" EXACT [] +synonym: "Glycogen storage disease, type I (disorder)" EXACT [SNOMEDCT_2005_07_31:7265005] +synonym: "glycogenosis type I" EXACT [CSP2005:1849-3779] +synonym: "von Gierke disease" EXACT [SNOMEDCT_2005_07_31:267498002] +synonym: "von Gierke's disease" EXACT [MTHICD9_2006:271.0] +xref: ICD10CM:E74.01 +xref: MSH:D005953 +xref: NCI:C84733 +xref: OMIM:232200 +xref: OMIM:232220 +xref: OMIM:232240 +xref: SNOMEDCT_US_2015_03_01:124437004 +xref: SNOMEDCT_US_2015_03_01:154738008 +xref: SNOMEDCT_US_2015_03_01:267498002 +xref: SNOMEDCT_US_2015_03_01:7265005 +xref: UMLS_CUI:C0017920 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:275 +name: gastric hemangioma +synonym: "hemangioma of stomach" EXACT [NCI2004_11_17:C5481] +xref: NCI:C5481 +xref: UMLS_CUI:C1333770 +is_a: DOID:254 ! hemangioma of intra-abdominal structure + +[Term] +id: DOID:2750 +name: glycogen storage disease IV +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Amylopectinosis" EXACT [MTHICD9_2006:271.0] +synonym: "brancher deficiency glycogenosis" EXACT [CSP2005:1849-3950] +synonym: "Branching-transferase deficiency glycogenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:190742009] +synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [SNOMEDCT_2005_07_31:124267007] +synonym: "Glycogen storage disease, type IV (disorder)" EXACT [SNOMEDCT_2005_07_31:11179002] +xref: ICD10CM:E74.09 +xref: MSH:D006011 +xref: NCI:C84737 +xref: OMIM:232500 +xref: SNOMEDCT_US_2015_03_01:11179002 +xref: SNOMEDCT_US_2015_03_01:124267007 +xref: SNOMEDCT_US_2015_03_01:190742009 +xref: UMLS_CUI:C0017923 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2751 +name: glycogen storage disease VIII +synonym: "glycogen storage disease type VIII" EXACT [] +synonym: "Glycogen storage disease type VIII (disorder)" EXACT [SNOMEDCT_2005_07_31:41527003] +synonym: "glycogenosis type VIII" EXACT [CSP2005:1849-4178] +synonym: "hepatic glycogen phosphorylase kinase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:297255007] +xref: MSH:D006015 +xref: SNOMEDCT_US_2015_03_01:297255007 +xref: SNOMEDCT_US_2015_03_01:41527003 +xref: UMLS_CUI:C0017927 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2752 +name: glycogen storage disease II +def: "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acid maltase deficiency" EXACT [CSP2005:1849-3836] +synonym: "deficiency of glucoamylase" EXACT [SNOMEDCT_2005_07_31:124454007] +synonym: "deficiency of maltase" EXACT [SNOMEDCT_2005_07_31:124462004] +synonym: "Generalized glycogenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:267424007] +synonym: "glycogen storage disease type II" EXACT [] +synonym: "Glycogen storage disease, type II (disorder)" EXACT [SNOMEDCT_2005_07_31:274864009] +synonym: "Glycogenosis, type 2" EXACT [SNOMEDCT_2005_07_31:190741002] +synonym: "Lysosomal alpha-1,4-glucosidase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:237967002] +synonym: "Pompe's disease" EXACT [SNOMEDCT_2005_07_31:237968007] +xref: ICD10CM:E74.02 +xref: MSH:D006009 +xref: NCI:C84734 +xref: OMIM:232300 +xref: SNOMEDCT_US_2015_03_01:124454007 +xref: SNOMEDCT_US_2015_03_01:124462004 +xref: SNOMEDCT_US_2015_03_01:190741002 +xref: SNOMEDCT_US_2015_03_01:237967002 +xref: SNOMEDCT_US_2015_03_01:237968007 +xref: SNOMEDCT_US_2015_03_01:267424007 +xref: SNOMEDCT_US_2015_03_01:76219003 +xref: UMLS_CUI:C0017921 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2753 +name: nervous system lysosomal storage disease +is_obsolete: true + +[Term] +id: DOID:2754 +name: glycogen storage disease VI +def: "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI, url:http\://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "glycogen storage disease type VI" EXACT [] +synonym: "hepatic glycogen phosphorylase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:237971004] +synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [CSP2005:1849-4064] +synonym: "Hers' disease" EXACT [] +xref: ICD10CM:E74.09 +xref: MSH:D006013 +xref: OMIM:232700 +xref: ORDO:369 +xref: SNOMEDCT_US_2015_03_01:237971004 +xref: SNOMEDCT_US_2015_03_01:29291001 +xref: UMLS_CUI:C0017925 +is_a: DOID:2747 ! glycogen storage disease + +[Term] +id: DOID:2755 +name: Mycobacterium avium complex disease +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." [url:http\://hivinsite.ucsf.edu/InSite?page=md-agl-mac, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/mycobacteriumavium_t.htm] +subset: gram-positive_bacterial_infectious_disease +synonym: "Infection due to Mycobacterium intracellulare" EXACT [SNOMEDCT_2005_07_31:14009004] +synonym: "Infection due to Mycobacterium intracellulare (disorder)" EXACT [SNOMEDCT_2005_07_31:373436002] +synonym: "MAC disease" EXACT [] +synonym: "Mycobacterium avium Complex" EXACT [CSP2005:0322-0521] +synonym: "Mycobacterium Avium Infection" EXACT [NCI2004_11_17:C36197] +xref: MSH:D015270 +xref: NCI:C36197 +xref: SNOMEDCT_US_2015_03_01:14009004 +xref: SNOMEDCT_US_2015_03_01:373436002 +xref: UMLS_CUI:C0026916 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:2756 +name: paratuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "Infection due to Mycobacterium paratuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:373578005] +synonym: "Johne's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:12223006] +is_obsolete: true + +[Term] +id: DOID:2757 +name: Mycobacterium infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Infection due to mycobacteria" EXACT [SNOMEDCT_2005_07_31:88415009] +synonym: "Mycobacterial disease" EXACT [SNOMEDCT_2005_07_31:154298007] +synonym: "Mycobacterial disease" EXACT [SNOMEDCT_2005_07_31:266184007] +synonym: "Mycobacterial disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186345003] +synonym: "Mycobacterial Infection" EXACT [NCI2004_11_17:C26831] +synonym: "Mycobacterium infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187318007] +synonym: "Unspecified disease due to mycobacteria" EXACT [ICD9CM_2006:031.9] +is_obsolete: true + +[Term] +id: DOID:2762 +name: bone carcinoma +def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +xref: NCI:C36082 +xref: SNOMEDCT_US_2015_03_01:269568000 +xref: UMLS_CUI:C0700110 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:2763 +name: ethmoid sinus squamous cell carcinoma +synonym: "Epidermoid carcinoma of the ethmoidal sinus" EXACT [NCI2004_11_17:C6065] +xref: NCI:C6065 +xref: UMLS_CUI:C1333477 +is_a: DOID:1363 ! ethmoid sinus cancer + +[Term] +id: DOID:2764 +name: ethmoid sinus adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of ethmoid sinus" RELATED [] +synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [NCI2004_11_17:C6238] +xref: NCI:C6238 +xref: UMLS_CUI:C1333473 +is_a: DOID:1363 ! ethmoid sinus cancer + +[Term] +id: DOID:2766 +name: ethmoid sinus adenocarcinoma +def: "An ethmoid sinus cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of ethmoid sinus" RELATED [] +synonym: "adenocarcinoma of the ethmoid sinus" EXACT [NCI2004_11_17:C6237] +xref: NCI:C6237 +xref: UMLS_CUI:C1333472 +is_a: DOID:1363 ! ethmoid sinus cancer + +[Term] +id: DOID:2768 +name: transient tic disorder +def: "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months." [url:http\://en.wikipedia.org/wiki/Tic_disorder] +xref: ICD10CM:F95.0 +xref: ICD9CM:307.21 +xref: MSH:D013981 +xref: SNOMEDCT_US_2015_03_01:192622000 +xref: SNOMEDCT_US_2015_03_01:56573006 +xref: UMLS_CUI:C0040702 +is_a: DOID:2769 ! tic disorder + +[Term] +id: DOID:2769 +name: tic disorder +def: "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity." [url:http\://www.minddisorders.com/Py-Z/Tic-disorders.html, url:http\://www.tsa-usa.org/Medical/definitions.html] +xref: ICD10CM:F95 +xref: ICD10CM:F95.9 +xref: ICD9CM:307.2 +xref: ICD9CM:307.20 +xref: MSH:D013981 +xref: SNOMEDCT_US_2015_03_01:112086008 +xref: SNOMEDCT_US_2015_03_01:155005001 +xref: SNOMEDCT_US_2015_03_01:191988002 +xref: SNOMEDCT_US_2015_03_01:191989005 +xref: SNOMEDCT_US_2015_03_01:191991002 +xref: SNOMEDCT_US_2015_03_01:192621007 +xref: SNOMEDCT_US_2015_03_01:192626002 +xref: SNOMEDCT_US_2015_03_01:35042001 +xref: SNOMEDCT_US_2015_03_01:386783003 +xref: SNOMEDCT_US_2015_03_01:393585001 +xref: SNOMEDCT_US_2015_03_01:568005 +xref: UMLS_CUI:C0040188 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:277 +name: chorioangioma +synonym: "Chorioangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:237268002] +synonym: "Placental hemangioma" EXACT [NCI2004_11_17:C4868] +xref: MSH:D006391 +xref: NCI:C4868 +xref: SNOMEDCT_US_2015_03_01:2099007 +xref: SNOMEDCT_US_2015_03_01:237268002 +xref: SNOMEDCT_US_2015_03_01:699948001 +xref: UMLS_CUI:C0677608 +is_a: DOID:254 ! hemangioma of intra-abdominal structure + +[Term] +id: DOID:2770 +name: diaper rash +synonym: "Diaper or napkin erythema" EXACT [MTHICD9_2006:691.0] +synonym: "Diaper or napkin rash" EXACT [ICD9CM_2006:691.0] +synonym: "Diaper rash (disorder)" EXACT [SNOMEDCT_2005_07_31:91487003] +synonym: "Irritant contact dermatitis due to contact with urine and/or faeces" EXACT [SNOMEDCT_2005_07_31:402275006] +synonym: "Jacquet's dermatitis" EXACT [SNOMEDCT_2005_07_31:238582000] +xref: ICD10CM:L22 +xref: ICD9CM:691.0 +xref: MSH:D003963 +xref: NCI:C111886 +xref: SNOMEDCT_US_2015_03_01:238582000 +xref: SNOMEDCT_US_2015_03_01:91487003 +xref: UMLS_CUI:C0011974 +is_obsolete: true + +[Term] +id: DOID:2771 +name: atopic dermatitis and related conditions +is_obsolete: true + +[Term] +id: DOID:2772 +name: irritant dermatitis +synonym: "Irritant Contact Dermatitis" EXACT [NCI2004_11_17:C27151] +synonym: "Irritant contact dermatitis" EXACT [SNOMEDCT_2005_07_31:200850007] +synonym: "primary irritant dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:110979008] +xref: ICD10CM:L24 +xref: ICD10CM:L24.9 +xref: MSH:D017453 +xref: NCI:C27151 +xref: SNOMEDCT_US_2015_03_01:110979008 +xref: SNOMEDCT_US_2015_03_01:200850007 +xref: UMLS_CUI:C0162823 +is_a: DOID:2773 ! contact dermatitis + +[Term] +id: DOID:2773 +name: contact dermatitis +synonym: "Contact dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:40275004] +synonym: "Contact dermatitis NOS" EXACT [SNOMEDCT_2005_07_31:200889001] +synonym: "Contact dermatitis NOS" EXACT [SNOMEDCT_2005_07_31:267846008] +synonym: "Contact dermatitis NOS" EXACT [SNOMEDCT_2005_07_31:156348006] +synonym: "Contact dermatitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200883000] +synonym: "Contact dermatitis/eczema" EXACT [SNOMEDCT_2005_07_31:267842005] +synonym: "Contact dermatitis/eczema" EXACT [SNOMEDCT_2005_07_31:156338009] +synonym: "Contact eczema" EXACT [SNOMEDCT_2005_07_31:200780008] +synonym: "dermatitis venenata" EXACT [CSP2005:2716-6989] +synonym: "Dermatitis, venenata NOS" EXACT [MTHICD9_2006:692.9] +xref: ICD10CM:L25 +xref: ICD10CM:L25.9 +xref: MSH:D003877 +xref: NCI:C26743 +xref: SNOMEDCT_US_2015_03_01:156338009 +xref: SNOMEDCT_US_2015_03_01:156348006 +xref: SNOMEDCT_US_2015_03_01:200780008 +xref: SNOMEDCT_US_2015_03_01:200883000 +xref: SNOMEDCT_US_2015_03_01:200889001 +xref: SNOMEDCT_US_2015_03_01:267842005 +xref: SNOMEDCT_US_2015_03_01:267846008 +xref: SNOMEDCT_US_2015_03_01:40275004 +xref: UMLS_CUI:C0011616 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:2775 +name: long bone adamantinoma +def: "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation." [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970057-2] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "adamantinoma of long bone" RELATED [] +synonym: "adamantinoma of long bone (disorder)" EXACT [SNOMEDCT_2005_07_31:307609003] +synonym: "adamantinoma of long bones" EXACT [SNOMEDCT_2005_07_31:189895006] +synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:56763007] +xref: MSH:C562741 +xref: NCI:C4305 +xref: OMIM:102660 +xref: SNOMEDCT_US_2015_03_01:189895006 +xref: SNOMEDCT_US_2015_03_01:307609003 +xref: SNOMEDCT_US_2015_03_01:56763007 +xref: UMLS_CUI:C0334556 +is_a: DOID:2776 ! adamantinoma + +[Term] +id: DOID:2776 +name: adamantinoma +def: "A bone cancer that is located_in almost exclusively in the long bones." [url:http\://emedicine.medscape.com/article/385977-overview] +xref: MSH:D050398 +xref: NCI:C7644 +xref: UMLS_CUI:C1367554 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:2777 +name: malignant neoplasm of short bones of upper limb +synonym: "malignant neoplasm of short bone of upper limb" EXACT [SNOMEDCT_2005_07_31:94004004] +is_obsolete: true + +[Term] +id: DOID:2778 +name: tumors of body of uterus, with delivery +is_obsolete: true + +[Term] +id: DOID:2779 +name: tumors of body of uterus complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:2780 +name: rectosigmoid junction neoplasm +synonym: "neoplasm of rectosigmoid junction (disorder)" EXACT [SNOMEDCT_2005_07_31:126848003] +synonym: "rectosigmoid neoplasm" EXACT [CSP2005:2010-1253] +synonym: "Rectosigmoid tumor" EXACT [NCI2004_11_17:C4877] +xref: NCI:C4877 +xref: SNOMEDCT_US_2015_03_01:126848003 +xref: UMLS_CUI:C0345873 +is_a: DOID:1896 ! sigmoid neoplasm +is_a: DOID:1984 ! rectal neoplasm + +[Term] +id: DOID:2781 +name: rectosigmoid cancer +xref: NCI:C7421 +xref: UMLS_CUI:C1327709 +is_a: DOID:2782 ! rectosigmoid junction cancer + +[Term] +id: DOID:2782 +name: rectosigmoid junction cancer +synonym: "malignant neoplasm of rectosigmoid" EXACT [MTHICD9_2006:154.0] +synonym: "malignant neoplasm of rectosigmoid junction" EXACT [ICD9CM_2006:154.0] +synonym: "malignant Rectosigmoid tumor" EXACT [NCI2004_11_17:C7420] +synonym: "malignant tumor of rectosigmoid junction (disorder)" EXACT [SNOMEDCT_2005_07_31:363414004] +xref: ICD10CM:C19 +xref: ICD9CM:154.0 +xref: NCI:C7420 +xref: SNOMEDCT_US_2015_03_01:363414004 +xref: SNOMEDCT_US_2015_03_01:93980002 +xref: UMLS_CUI:C0153443 +is_a: DOID:12192 ! sigmoid colon cancer + +[Term] +id: DOID:2784 +name: lung sarcoma +def: "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin." [url:http\://www.asco.org/ASCOv2/Meetings/Abstracts?&vmview=abst_detail_view&confID=26&abstractID=4315] +synonym: "pulmonary sarcoma" EXACT [NCI2004_11_17:C4860] +xref: NCI:C4860 +xref: UMLS_CUI:C0598790 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:2785 +name: Dandy-Walker syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "(Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome)" EXACT [SNOMEDCT_2005_07_31:204063009] +synonym: "Atresia of foramina of Magendie and Luschka" EXACT [MTHICD9_2006:742.3] +synonym: "Dandy-Walker syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:14447001] +xref: ICD10CM:Q03.1 +xref: MSH:D003616 +xref: NCI:C75012 +xref: OMIM:220200 +xref: SNOMEDCT_US_2015_03_01:14447001 +xref: SNOMEDCT_US_2015_03_01:204063009 +xref: UMLS_CUI:C0010964 +is_a: DOID:2786 ! cerebellar disease + +[Term] +id: DOID:2786 +name: cerebellar disease +synonym: "Cerebellar deficiency syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:224186005] +synonym: "cerebellar disorder" EXACT [CSP2005:0485-3992] +xref: MSH:D002526 +xref: SNOMEDCT_US_2015_03_01:155010002 +xref: SNOMEDCT_US_2015_03_01:192867005 +xref: SNOMEDCT_US_2015_03_01:223176004 +xref: SNOMEDCT_US_2015_03_01:224186005 +xref: SNOMEDCT_US_2015_03_01:267691001 +xref: SNOMEDCT_US_2015_03_01:307361005 +xref: SNOMEDCT_US_2015_03_01:49784007 +xref: UMLS_CUI:C0007760 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:2788 +name: Ciliophora infectious disease +def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." [url:http\://en.wikipedia.org/wiki/Ciliate] +is_obsolete: true + +[Term] +id: DOID:2789 +name: parasitic protozoa infectious disease +alt_id: DOID:0060003 +alt_id: DOID:10553 +alt_id: DOID:3734 +alt_id: DOID:3804 +alt_id: DOID:947 +def: "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes." [url:http\://en.wikipedia.org/wiki/Protozoan, url:http\://en.wikipedia.org/wiki/Protozoan_infection] +synonym: "mastigophora infectious disease" EXACT [] +synonym: "sarcomastigophora infectious disease" EXACT [] +xref: ICD10CM:B50-B64 +xref: ICD10CM:B64 +xref: MSH:D011528 +xref: NCI:C34953 +xref: SNOMEDCT_US_2015_03_01:187247003 +xref: SNOMEDCT_US_2015_03_01:187502000 +xref: SNOMEDCT_US_2015_03_01:187517001 +xref: SNOMEDCT_US_2015_03_01:240627001 +xref: SNOMEDCT_US_2015_03_01:367372008 +xref: SNOMEDCT_US_2015_03_01:89933001 +xref: SNOMEDCT_US_2015_03_01:95896000 +xref: UMLS_CUI:C0033740 +is_a: DOID:1398 ! parasitic infectious disease + +[Term] +id: DOID:2790 +name: necatoriasis +alt_id: DOID:13048 +def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." [url:http\://en.wikipedia.org/wiki/Necator_americanus] +xref: ICD10CM:B76.1 +xref: MSH:D009332 +xref: NCI:C34838 +xref: SNOMEDCT_US_2015_03_01:36667009 +xref: UMLS_CUI:C0027528 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:2791 +name: hookworm infectious disease +alt_id: DOID:10954 +def: "A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." [url:http\://en.wikipedia.org/wiki/Hookworm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm] +synonym: "ancylostomiasis and necatoriasis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2797 +name: idiopathic interstitial pneumonia +def: "A pneumonia located_in the lung parenchyma of unknown cause." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] +synonym: "Diffuse idiopathic pulmonary fibrosis" EXACT [MTHICD9_2006:516.3] +synonym: "Idiopathic fibrosing alveolitis" EXACT [ICD9CM_2006:516.3] +synonym: "Idiopathic Interstitial Pneumonia" EXACT [NCI2004_11_17:C35714] +synonym: "IPF" RELATED [CSP2005:4008-0052] +xref: ICD10CM:J84.11 +xref: ICD10CM:J84.112 +xref: ICD10CM:J84.114 +xref: MSH:D011658 +xref: SNOMEDCT_US_2015_03_01:129459004 +xref: SNOMEDCT_US_2015_03_01:155624004 +xref: SNOMEDCT_US_2015_03_01:196123009 +xref: SNOMEDCT_US_2015_03_01:196125002 +xref: SNOMEDCT_US_2015_03_01:196126001 +xref: SNOMEDCT_US_2015_03_01:233721005 +xref: SNOMEDCT_US_2015_03_01:236302005 +xref: SNOMEDCT_US_2015_03_01:266410004 +xref: SNOMEDCT_US_2015_03_01:45157009 +xref: SNOMEDCT_US_2015_03_01:700250006 +xref: UMLS_CUI:C0085786 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:2799 +name: bronchiolitis obliterans +def: "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans] +synonym: "Bronchiolitis exudativa" EXACT [SNOMEDCT_2005_07_31:52409006] +synonym: "Bronchiolitis fibrosa obliterans (disorder)" EXACT [SNOMEDCT_2005_07_31:31886003] +synonym: "Obliterative bronchiolitis" EXACT [SNOMEDCT_2005_07_31:40100001] +xref: MSH:D001989 +xref: NCI:C62580 +xref: SNOMEDCT_US_2015_03_01:40100001 +xref: UMLS_CUI:C0006272 +is_a: DOID:3082 ! interstitial lung disease + +[Term] +id: DOID:28 +name: endocrine system disease +def: "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." [url:http\://en.wikipedia.org/wiki/Endocrine_system] +xref: ICD10CM:E34.9 +xref: ICD9CM:259.9 +xref: MSH:D004700 +xref: NCI:C3009 +xref: SNOMEDCT_US_2015_03_01:118639003 +xref: SNOMEDCT_US_2015_03_01:127345001 +xref: SNOMEDCT_US_2015_03_01:154648001 +xref: SNOMEDCT_US_2015_03_01:154690007 +xref: SNOMEDCT_US_2015_03_01:154718007 +xref: SNOMEDCT_US_2015_03_01:190231001 +xref: SNOMEDCT_US_2015_03_01:190594008 +xref: SNOMEDCT_US_2015_03_01:267462005 +xref: SNOMEDCT_US_2015_03_01:267475005 +xref: SNOMEDCT_US_2015_03_01:267489000 +xref: SNOMEDCT_US_2015_03_01:362969004 +xref: SNOMEDCT_US_2015_03_01:67432001 +xref: UMLS_CUI:C0014130 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:280 +name: ear tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of ear" EXACT [] +is_obsolete: true + +[Term] +id: DOID:2800 +name: acute interstitial pneumonia +def: "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] +synonym: "accelerated interstitial pneumonia" EXACT [] +synonym: "acute interstitial pneumonitis, NOS" EXACT [SNOMEDCT_2005_07_31:35037009] +synonym: "AIP" EXACT [NCI2004_11_17:C35806] +synonym: "Hamman-Rich disease" EXACT [] +synonym: "Hamman-Rich syndrome" EXACT [] +synonym: "Idiopathic pulmonary fibrosis, acute fatal form" EXACT [SNOMEDCT_2005_07_31:129459004] +synonym: "Idiopathic pulmonary fibrosis, acute fatal form" EXACT [SNOMEDCT_2005_07_31:236302005] +xref: ICD10CM:J84.114 +xref: ICD9CM:516.33 +xref: NCI:C35806 +xref: SNOMEDCT_US_2015_03_01:129459004 +xref: SNOMEDCT_US_2015_03_01:236302005 +xref: SNOMEDCT_US_2015_03_01:35037009 +xref: SNOMEDCT_US_2015_03_01:45157009 +xref: UMLS_CUI:C1279945 +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:2801 +name: nonspecific interstitial pneumonia +def: "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh] +synonym: "Nonspecific interstitial pneumonia (disorder)" EXACT [SNOMEDCT_2005_07_31:129452008] +synonym: "NSIP" EXACT [] +xref: NCI:C35717 +xref: SNOMEDCT_US_2015_03_01:129452008 +xref: UMLS_CUI:C1290344 +is_a: DOID:2797 ! idiopathic interstitial pneumonia + +[Term] +id: DOID:2809 +name: primary Bartonellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2810 +name: middle lobe syndrome +def: "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." [url:http\://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf] +xref: MSH:D008878 +xref: SNOMEDCT_US_2015_03_01:28295001 +xref: UMLS_CUI:C0026069 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:2814 +name: malignant neoplasm of acoustic nerve +synonym: "malignant tumor of acoustic vestibular nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:254980001] +synonym: "malignant tumor of the Vestibulocochlear nerve" EXACT [NCI2004_11_17:C4539] +synonym: "malignant tumour of acoustic vestibular nerve" EXACT [SNOMEDCT_2005_07_31:188310002] +xref: ICD10CM:C72.4 +xref: NCI:C4539 +xref: SNOMEDCT_US_2015_03_01:188310002 +xref: SNOMEDCT_US_2015_03_01:254980001 +xref: SNOMEDCT_US_2015_03_01:93660000 +xref: UMLS_CUI:C0346331 +is_a: DOID:2815 ! cranial nerve malignant neoplasm + +[Term] +id: DOID:2815 +name: cranial nerve malignant neoplasm +synonym: "malignant neoplasm of cranial nerve" EXACT [SNOMEDCT_2005_07_31:93767009] +synonym: "malignant neoplasm of cranial nerves" EXACT [ICD9CM_2006:192.0] +synonym: "malignant neoplasm of cranial nerves NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188311003] +synonym: "malignant tumor of cranial nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:188307009] +synonym: "malignant tumor of the Cranial nerve" EXACT [NCI2004_11_17:C3571] +xref: ICD10CM:C72.50 +xref: ICD9CM:192.0 +xref: MSH:D003390 +xref: NCI:C3571 +xref: SNOMEDCT_US_2015_03_01:188307009 +xref: SNOMEDCT_US_2015_03_01:188311003 +xref: SNOMEDCT_US_2015_03_01:93767009 +xref: UMLS_CUI:C0153644 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:2816 +name: malignant oculomotor nerve tumor +synonym: "IIIrd Cranial nerve neoplasm, malignant" EXACT [NCI2004_11_17:C6995] +synonym: "primary malignant neoplasm of oculomotor nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:93929003] +xref: NCI:C6995 +xref: SNOMEDCT_US_2015_03_01:93929003 +xref: UMLS_CUI:C0686417 +is_a: DOID:2815 ! cranial nerve malignant neoplasm +is_a: DOID:2817 ! cranial nerve III tumor + +[Term] +id: DOID:2817 +name: cranial nerve III tumor +synonym: "neoplasm of oculomotor nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126969002] +synonym: "Oculomotor nerve tumor" EXACT [NCI2004_11_17:C6994] +xref: NCI:C6994 +xref: SNOMEDCT_US_2015_03_01:126969002 +xref: UMLS_CUI:C1263895 +is_a: DOID:338 ! cranial nerve neoplasm +is_a: DOID:562 ! third cranial nerve disease + +[Term] +id: DOID:2825 +name: nose disease +synonym: "disorder of the nose (disorder)" EXACT [SNOMEDCT_2005_07_31:89488007] +synonym: "nasal disorder" EXACT [CSP2005:1997-0936] +xref: MSH:D009668 +xref: SNOMEDCT_US_2015_03_01:89488007 +xref: UMLS_CUI:C0028432 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:2828 +name: acalculous cholecystitis +alt_id: DOID:2827 +synonym: "acute acalculous cholecystitis" EXACT [] +synonym: "acute cholecystitis without calculus (disorder)" EXACT [SNOMEDCT_2005_07_31:34346002] +synonym: "cholecystitis without calculus (disorder)" EXACT [SNOMEDCT_2005_07_31:19968009] +xref: MSH:D042101 +xref: NCI:C35578 +xref: SNOMEDCT_US_2015_03_01:19968009 +xref: UMLS_CUI:C0267841 +is_a: DOID:1949 ! cholecystitis + +[Term] +id: DOID:283 +name: leukemic reticuloendotheliosis of intra-abdominal lymph nodes +synonym: "Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes" EXACT [ICD9CM_2006:202.43] +synonym: "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93144003] +synonym: "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188647005] +is_obsolete: true + +[Term] +id: DOID:2832 +name: geotrichosis +def: "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." [url:http\://medind.nic.in/iav/t03/i2/iavt03i2p72.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Hyphomycetes_%28hyaline%29/Geotrichum/] +synonym: "Geotrichosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13969006] +xref: ICD10CM:B48.3 +xref: MSH:D005847 +xref: SNOMEDCT_US_2015_03_01:13969006 +xref: SNOMEDCT_US_2015_03_01:187105008 +xref: UMLS_CUI:C0017455 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:2833 +name: dehydration polycythemia +xref: NCI:C27310 +xref: UMLS_CUI:C0856815 +is_a: DOID:2834 ! acquired polycythemia + +[Term] +id: DOID:2834 +name: acquired polycythemia +synonym: "Polycythemia, secondary" EXACT [ICD9CM_2006:289.0] +synonym: "secondary Polycythemia" EXACT [NCI2004_11_17:C27178] +synonym: "secondary polycythemia" EXACT [SNOMEDCT_2005_07_31:154835002] +synonym: "secondary polycythemia (disorder)" EXACT [SNOMEDCT_2005_07_31:44865000] +synonym: "secondary polycythemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191374009] +xref: ICD10CM:D75.1 +xref: ICD9CM:289.0 +xref: NCI:C27178 +xref: SNOMEDCT_US_2015_03_01:154835002 +xref: SNOMEDCT_US_2015_03_01:191374009 +xref: SNOMEDCT_US_2015_03_01:44865000 +xref: UMLS_CUI:C1318533 +is_a: DOID:8432 ! polycythemia + +[Term] +id: DOID:2835 +name: polycythemia due to hypoxia +xref: NCI:C27312 +xref: UMLS_CUI:C0856818 +is_a: DOID:2834 ! acquired polycythemia + +[Term] +id: DOID:2838 +name: stress polycythemia +synonym: "Gaisbock's syndrome" EXACT [SNOMEDCT_2005_07_31:35326002] +synonym: "Gaisbock's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:48250002] +synonym: "Polycythemia, emotional" EXACT [MTHICD9_2006:289.0] +synonym: "Stress Polycythemia" EXACT [NCI2004_11_17:C27174] +synonym: "Stress polycythemia (disorder)" EXACT [SNOMEDCT_2005_07_31:36874002] +synonym: "Stress polycythemia [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:191371001] +xref: ICD10CM:D75.1 +xref: NCI:C27174 +xref: SNOMEDCT_US_2015_03_01:191371001 +xref: SNOMEDCT_US_2015_03_01:36874002 +xref: UMLS_CUI:C0541719 +is_a: DOID:2834 ! acquired polycythemia + +[Term] +id: DOID:2839 +name: erythropoietin polycythemia +synonym: "Nephrogenous polycythemia" EXACT [SNOMEDCT_2005_07_31:43918003] +synonym: "Polycythaemia due to Excess Erythropoetin Production" EXACT [NCI2004_11_17:C35434] +synonym: "Polycythemia due to excess erythopoetin production" EXACT [MTH:NOCODE] +synonym: "Polycythemia, nephrogenous" EXACT [MTHICD9_2006:289.0] +synonym: "secondary polycythemia with excess erythropoietin (disorder)" EXACT [SNOMEDCT_2005_07_31:367328005] +xref: ICD10CM:D75.1 +xref: NCI:C35434 +xref: SNOMEDCT_US_2015_03_01:367328005 +xref: SNOMEDCT_US_2015_03_01:43918003 +xref: UMLS_CUI:C0391869 +is_a: DOID:2834 ! acquired polycythemia + +[Term] +id: DOID:284 +name: malignant neoplasm of abdomen +synonym: "malignant tumor of abdomen (disorder)" EXACT [SNOMEDCT_2005_07_31:188366002] +is_obsolete: true + +[Term] +id: DOID:2841 +name: asthma +alt_id: DOID:12703 +alt_id: DOID:13829 +alt_id: DOID:13830 +alt_id: DOID:2840 +alt_id: DOID:5783 +def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." [url:http\://www.aaaai.org/patients/topicofthemonth/0107/, url:http\://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "bronchial hyperreactivity" EXACT [] +synonym: "chronic obstructive asthma" EXACT [] +synonym: "chronic obstructive asthma with acute exacerbation" EXACT [] +synonym: "chronic obstructive asthma with status asthmaticus" EXACT [] +synonym: "Exercise induced asthma" EXACT [SNOMEDCT_2005_07_31:195983001] +synonym: "exercise-induced asthma" EXACT [] +xref: EFO:0000270 +xref: ICD10CM:J45 +xref: ICD10CM:J45.90 +xref: ICD10CM:J45.909 +xref: ICD9CM:493 +xref: ICD9CM:493.9 +xref: KEGG:05310 +xref: MSH:D001249 +xref: NCI:C28397 +xref: OMIM:600807 +xref: SNOMEDCT_US_2015_03_01:155574008 +xref: SNOMEDCT_US_2015_03_01:155579003 +xref: SNOMEDCT_US_2015_03_01:187687003 +xref: SNOMEDCT_US_2015_03_01:195967001 +xref: SNOMEDCT_US_2015_03_01:195979001 +xref: SNOMEDCT_US_2015_03_01:195983001 +xref: SNOMEDCT_US_2015_03_01:21341004 +xref: SNOMEDCT_US_2015_03_01:266365004 +xref: SNOMEDCT_US_2015_03_01:266398009 +xref: SNOMEDCT_US_2015_03_01:278517007 +xref: UMLS_CUI:C0004096 +is_a: DOID:1176 ! bronchial disease + +[Term] +id: DOID:2842 +name: Jervell-Lange Nielsen syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Jervell and Lange-Nielson syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:373905003] +synonym: "Jervell and Lange-Nielson syndrome (finding)" EXACT [SNOMEDCT_2005_07_31:49518001] +xref: MSH:D029593 +xref: NCI:C84793 +xref: OMIM:220400 +xref: OMIM:612347 +xref: SNOMEDCT_US_2015_03_01:373905003 +xref: SNOMEDCT_US_2015_03_01:49518001 +xref: UMLS_CUI:C0022387 +is_a: DOID:2843 ! long QT syndrome + +[Term] +id: DOID:2843 +name: long QT syndrome +alt_id: DOID:4069 +def: "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles)." [url:http\://en.wikipedia.org/wiki/Long_QT_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "long Q-T syndrome" EXACT [SNOMEDCT_2005_07_31:395649008] +synonym: "LQT" EXACT [CSP2005:4009-0053] +synonym: "Romano-Ward syndrome" EXACT [] +synonym: "Romano-Ward syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:20852007] +xref: ICD10CM:I45.81 +xref: ICD9CM:426.82 +xref: MSH:D008133 +xref: MSH:D029597 +xref: NCI:C34786 +xref: NCI:C85049 +xref: OMIM:170390 +xref: OMIM:192500 +xref: OMIM:601005 +xref: OMIM:603830 +xref: OMIM:611818 +xref: OMIM:611819 +xref: OMIM:611820 +xref: OMIM:612955 +xref: OMIM:613485 +xref: OMIM:613688 +xref: OMIM:613693 +xref: OMIM:613695 +xref: SNOMEDCT_US_2015_03_01:20852007 +xref: SNOMEDCT_US_2015_03_01:395649008 +xref: SNOMEDCT_US_2015_03_01:9651007 +xref: UMLS_CUI:C0023976 +xref: UMLS_CUI:C0035828 +is_a: DOID:0050739 ! autosomal genetic disease + +[Term] +id: DOID:2846 +name: bruxism +alt_id: DOID:8891 +def: "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping." [url:http\://en.wikipedia.org/wiki/Bruxism] +synonym: "Bruxism - teeth grinding" EXACT [SNOMEDCT_2005_07_31:268774006] +synonym: "Grinding teeth" EXACT [SNOMEDCT_2005_07_31:367105000] +synonym: "sleep related bruxism" EXACT [] +synonym: "Teeth grinding" EXACT [MTHICD9_2006:306.8] +xref: ICD10CM:F45.8 +xref: ICD10CM:G47.63 +xref: ICD9CM:327.53 +xref: MSH:D002012 +xref: MSH:D020186 +xref: NCI:C73511 +xref: SNOMEDCT_US_2015_03_01:154925009 +xref: SNOMEDCT_US_2015_03_01:191983006 +xref: SNOMEDCT_US_2015_03_01:192436003 +xref: SNOMEDCT_US_2015_03_01:268774006 +xref: SNOMEDCT_US_2015_03_01:274950005 +xref: SNOMEDCT_US_2015_03_01:367105000 +xref: SNOMEDCT_US_2015_03_01:90207007 +xref: UMLS_CUI:C0006325 +xref: UMLS_CUI:C0393774 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:2848 +name: melancholia +xref: MSH:D003866 +xref: NCI:C34812 +xref: SNOMEDCT_US_2015_03_01:35489007 +xref: UMLS_CUI:C0025193 +is_a: DOID:1596 ! mental depression + +[Term] +id: DOID:285 +name: hairy cell leukemia +xref: ICD10CM:C91.4 +xref: ICD10CM:C91.40 +xref: ICD9CM:202.4 +xref: MSH:D007943 +xref: NCI:C7402 +xref: SNOMEDCT_US_2015_03_01:118613001 +xref: SNOMEDCT_US_2015_03_01:188644003 +xref: SNOMEDCT_US_2015_03_01:188653005 +xref: SNOMEDCT_US_2015_03_01:190066005 +xref: SNOMEDCT_US_2015_03_01:54087003 +xref: SNOMEDCT_US_2015_03_01:85228003 +xref: UMLS_CUI:C0023443 +is_a: DOID:1040 ! chronic lymphocytic leukemia + +[Term] +id: DOID:2853 +name: atrophy of thyroid +synonym: "Hypoplasia of thyroid (disorder)" EXACT [SNOMEDCT_2005_07_31:367524008] +synonym: "Hypoplasia of thyroid (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:82482009] +synonym: "Thyroid Atrophy" EXACT [NCI2004_11_17:C26942] +synonym: "Thyroid atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:190309006] +is_obsolete: true + +[Term] +id: DOID:2855 +name: hyperthyroxinemia +xref: MSH:D006981 +xref: UMLS_CUI:C0020551 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:2856 +name: euthyroid sick syndrome +synonym: "Euthyroid sick syndrome" EXACT [ICD9CM_2006:790.94] +synonym: "Sick-euthyroid syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:237542005] +xref: ICD10CM:E07.81 +xref: ICD9CM:790.94 +xref: MSH:D005067 +xref: NCI:C113170 +xref: SNOMEDCT_US_2015_03_01:237542005 +xref: UMLS_CUI:C0015190 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:2857 +name: abscess of thyroid +synonym: "abscess of thyroid (disorder)" EXACT [SNOMEDCT_2005_07_31:102452004] +synonym: "Thyroid gland abscess" EXACT [NCI2004_11_17:C27115] +is_obsolete: true + +[Term] +id: DOID:2859 +name: hemoglobin C disease +synonym: "Hb-C disease" EXACT [MTHICD9_2006:282.7] +synonym: "Hemoglobin C disease (disorder)" EXACT [SNOMEDCT_2005_07_31:51053007] +xref: ICD10CM:D58.2 +xref: MSH:D006445 +xref: NCI:C34675 +xref: SNOMEDCT_US_2015_03_01:51053007 +xref: UMLS_CUI:C0019021 +is_a: DOID:2860 ! hemoglobinopathy + +[Term] +id: DOID:2860 +name: hemoglobinopathy +synonym: "hemoglobinopathies" EXACT [] +xref: ICD10CM:D58.2 +xref: MSH:D006453 +xref: NCI:C3092 +xref: SNOMEDCT_US_2015_03_01:154794008 +xref: SNOMEDCT_US_2015_03_01:267556002 +xref: SNOMEDCT_US_2015_03_01:80141007 +xref: UMLS_CUI:C0019045 +is_a: DOID:589 ! congenital hemolytic anemia + +[Term] +id: DOID:2861 +name: congenital nonspherocytic hemolytic anemia +comment: Xref MGI.\nOMIM mapping by NeuroDevNet. [LS]. +subset: DO_MGI_slim +synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [CSP2005:0427-1697] +synonym: "HNSHA (disorder)" EXACT [SNOMEDCT_2005_07_31:300389006] +xref: MSH:D000746 +xref: OMIM:206300 +xref: OMIM:206400 +xref: OMIM:300908 +xref: OMIM:613470 +xref: ORDO:712 +xref: SNOMEDCT_US_2015_03_01:300389006 +xref: SNOMEDCT_US_2015_03_01:301317008 +xref: SNOMEDCT_US_2015_03_01:82775009 +xref: UMLS_CUI:C0002882 +is_a: DOID:589 ! congenital hemolytic anemia + +[Term] +id: DOID:2862 +name: glucosephosphate dehydrogenase deficiency +def: "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] +synonym: "deficiency of G-6PD" EXACT [SNOMEDCT_2005_07_31:124134002] +synonym: "Glucose-6-phosphate dehydrogenase deficiency" EXACT [SNOMEDCT_2005_07_31:62403005] +xref: MSH:D005955 +xref: NCI:C98933 +xref: OMIM:305900 +xref: SNOMEDCT_US_2015_03_01:124134002 +xref: SNOMEDCT_US_2015_03_01:154738008 +xref: SNOMEDCT_US_2015_03_01:267498002 +xref: SNOMEDCT_US_2015_03_01:62403005 +xref: UMLS_CUI:C2939465 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:287 +name: vision disorder +synonym: "visual disorder" RELATED [SNOMEDCT_2005_07_31:40031005] +is_obsolete: true + +[Term] +id: DOID:2870 +name: endometrial adenocarcinoma +alt_id: DOID:5827 +alt_id: DOID:6650 +def: "An endometrial carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of endometrium (disorder)" EXACT [SNOMEDCT_2005_07_31:123845008] +synonym: "adenocarcinoma of the Endometrium" EXACT [NCI2004_11_17:C7359] +synonym: "adenocarcinoma of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:309245001] +synonym: "endometrial adenoacanthoma" EXACT [] +synonym: "endometrial endometrioid adenocarcinoma" EXACT [] +synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [NCI2004_11_17:C8027] +synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189652009] +synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189649001] +synonym: "endometrioid carcinoma of Endometrium" EXACT [NCI2004_11_17:C6287] +xref: NCI:C6287 +xref: NCI:C6290 +xref: NCI:C7359 +xref: SNOMEDCT_US_2015_03_01:123845008 +xref: SNOMEDCT_US_2015_03_01:189649001 +xref: SNOMEDCT_US_2015_03_01:189652009 +xref: SNOMEDCT_US_2015_03_01:309245001 +xref: UMLS_CUI:C0279763 +xref: UMLS_CUI:C1153706 +xref: UMLS_CUI:C1336905 +is_a: DOID:2871 ! endometrial carcinoma + +[Term] +id: DOID:2871 +name: endometrial carcinoma +alt_id: DOID:3000 +def: "A endometrial cancer that is located_in the tissue lining the uterus." [url:http\://www.cancer.gov/cancertopics/types/endometrial] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "carcinoma of the Endometrium" EXACT [NCI2004_11_17:C7558] +synonym: "endometrioid carcinoma" EXACT [] +synonym: "endometrioid carcinoma of female Reproductive system" EXACT [NCI2004_11_17:C3769] +xref: MSH:D016889 +xref: MSH:D018269 +xref: NCI:C3769 +xref: NCI:C7558 +xref: OMIM:608089 +xref: SNOMEDCT_US_2015_03_01:154526001 +xref: SNOMEDCT_US_2015_03_01:254878006 +xref: SNOMEDCT_US_2015_03_01:269600001 +xref: SNOMEDCT_US_2015_03_01:30289006 +xref: SNOMEDCT_US_2015_03_01:93781006 +xref: UMLS_CUI:C0206687 +xref: UMLS_CUI:C0476089 +is_a: DOID:1380 ! endometrial cancer + +[Term] +id: DOID:2873 +name: metastatic tumor to the larynx +is_obsolete: true + +[Term] +id: DOID:2874 +name: metastasis to the neck +synonym: "metastatic tumor to the neck" EXACT [NCI2004_11_17:C8528] +is_obsolete: true + +[Term] +id: DOID:2876 +name: laryngeal squamous cell carcinoma +def: "A laryngeal carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "Epidermoid carcinoma of the Larynx" EXACT [NCI2004_11_17:C4044] +synonym: "squamous cell carcinoma of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:405822008] +xref: NCI:C4044 +xref: SNOMEDCT_US_2015_03_01:405822008 +xref: SNOMEDCT_US_2015_03_01:707358000 +xref: UMLS_CUI:C0280324 +is_a: DOID:2600 ! laryngeal carcinoma + +[Term] +id: DOID:2877 +name: larynx sarcoma +def: "A sarcoma and malignant neoplasm of larynx that is located_in the larynx." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20larynx&c=pc&ss=] +synonym: "sarcoma of larynx" EXACT [NCI2004_11_17:C6020] +xref: NCI:C6020 +xref: UMLS_CUI:C1334377 +is_a: DOID:2596 ! larynx cancer + +[Term] +id: DOID:2878 +name: throat carcinoma +is_obsolete: true + +[Term] +id: DOID:2879 +name: nodular degeneration of cornea +synonym: "nodular degeneration of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:72620002] +xref: ICD10CM:H18.45 +xref: ICD9CM:371.46 +xref: SNOMEDCT_US_2015_03_01:72620002 +xref: UMLS_CUI:C0155122 +is_a: DOID:1237 ! corneal degeneration + +[Term] +id: DOID:288 +name: endometriosis of uterus +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Adenomyosis - uterine endomet." EXACT [SNOMEDCT_2005_07_31:155988000] +synonym: "Adenomyosis - uterine endomet." EXACT [SNOMEDCT_2005_07_31:198246007] +synonym: "Endometriosis interna (disorder)" EXACT [SNOMEDCT_2005_07_31:198247003] +synonym: "Endometriosis of myometrium" EXACT [SNOMEDCT_2005_07_31:198248008] +synonym: "Endometriosis of myometrium (disorder)" EXACT [SNOMEDCT_2005_07_31:237115002] +synonym: "Endometriosis of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:76376003] +synonym: "Endometriosis of uterus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198249000] +synonym: "Endometriosis, myometrium" EXACT [MTHICD9_2006:617.0] +synonym: "uterine Adenomyosis" EXACT [NCI2004_11_17:C6996] +xref: ICD10CM:N80.0 +xref: ICD9CM:617.0 +xref: MSH:D062788 +xref: NCI:C6996 +xref: OMIM:600458 +xref: SNOMEDCT_US_2015_03_01:155988000 +xref: SNOMEDCT_US_2015_03_01:198246007 +xref: SNOMEDCT_US_2015_03_01:198247003 +xref: SNOMEDCT_US_2015_03_01:198248008 +xref: SNOMEDCT_US_2015_03_01:198249000 +xref: SNOMEDCT_US_2015_03_01:237115002 +xref: SNOMEDCT_US_2015_03_01:76376003 +xref: UMLS_CUI:C0341858 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:2880 +name: Hantavirus infectious disease +def: "A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." [url:http\://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2882 +name: Cysts of iris, ciliary body and anterior chamber +synonym: "Cysts of iris, ciliary body and anterior chamber (disorder)" EXACT [SNOMEDCT_2005_07_31:267621005] +synonym: "Cysts of iris, ciliary body and anterior chamber NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193516007] +synonym: "Cysts of iris, ciliary body, and anterior chamber" EXACT [ICD9CM_2006:364.6] +is_obsolete: true + +[Term] +id: DOID:2883 +name: prostatic adenoma +synonym: "adenoma - prostate" EXACT [SNOMEDCT_2005_07_31:155906003] +synonym: "adenoma - prostate" EXACT [SNOMEDCT_2005_07_31:270536001] +synonym: "adenoma of prostate" EXACT [MTHICD9_2006:600.2] +synonym: "benign adenoma of prostate" EXACT [SNOMEDCT_2005_07_31:197957005] +synonym: "benign adenoma of prostate" EXACT [SNOMEDCT_2005_07_31:266569009] +synonym: "benign adenoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:21173002] +synonym: "prostate adenoma" EXACT [NCI2004_11_17:C4795] +xref: MSH:D011470 +xref: NCI:C4795 +xref: SNOMEDCT_US_2015_03_01:155906003 +xref: SNOMEDCT_US_2015_03_01:197957005 +xref: SNOMEDCT_US_2015_03_01:21173002 +xref: SNOMEDCT_US_2015_03_01:266569009 +xref: SNOMEDCT_US_2015_03_01:270536001 +xref: UMLS_CUI:C0520477 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:2885 +name: benign prostate phyllodes tumor +alt_id: DOID:2886 +synonym: "benign Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C5532] +synonym: "Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C7574] +synonym: "prostate phyllodes tumor" EXACT [] +xref: NCI:C5532 +xref: NCI:C7574 +xref: UMLS_CUI:C1332535 +xref: UMLS_CUI:C1335409 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:2887 +name: prostate leiomyoma +synonym: "Prostatic leiomyoma" EXACT [NCI2004_11_17:C5544] +xref: NCI:C5544 +xref: UMLS_CUI:C1335510 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:2889 +name: retrocochlear disease +xref: MSH:D012181 +xref: UMLS_CUI:C0035352 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:289 +name: endometriosis +def: "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." [PMID:20574791, url:https\://en.wikipedia.org/?title=Endometriosis] +xref: EFO:0001065 +xref: ICD10CM:N80 +xref: ICD10CM:N80.9 +xref: ICD9CM:617 +xref: ICD9CM:617.9 +xref: MSH:D004715 +xref: NCI:C3014 +xref: SNOMEDCT_US_2015_03_01:103677003 +xref: SNOMEDCT_US_2015_03_01:11871002 +xref: SNOMEDCT_US_2015_03_01:129103003 +xref: SNOMEDCT_US_2015_03_01:155988000 +xref: SNOMEDCT_US_2015_03_01:198246007 +xref: SNOMEDCT_US_2015_03_01:198259004 +xref: SNOMEDCT_US_2015_03_01:266588002 +xref: SNOMEDCT_US_2015_03_01:396224008 +xref: UMLS_CUI:C0014175 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:2890 +name: primary Klebsiella infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2891 +name: thyroid adenoma +synonym: "adenoma of thyroid gland" EXACT [SNOMEDCT_2005_07_31:189174004] +xref: MSH:D013964 +xref: NCI:C3502 +xref: SNOMEDCT_US_2015_03_01:154623004 +xref: SNOMEDCT_US_2015_03_01:189174004 +xref: SNOMEDCT_US_2015_03_01:255033000 +xref: SNOMEDCT_US_2015_03_01:255034006 +xref: SNOMEDCT_US_2015_03_01:269644003 +xref: UMLS_CUI:C0151468 +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:2892 +name: exocervical carcinoma +synonym: "carcinoma of exocervix" EXACT [SNOMEDCT_2005_07_31:372100004] +synonym: "carcinoma of the Exocervix" EXACT [NCI2004_11_17:C7453] +xref: NCI:C7453 +xref: SNOMEDCT_US_2015_03_01:372100004 +xref: UMLS_CUI:C1299238 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:2893 +name: cervix carcinoma +def: "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Cervical_cancer] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "cancer of cervix" EXACT [SNOMEDCT_2005_07_31:93752005] +synonym: "carcinoma cervix uteri" EXACT [SNOMEDCT_2005_07_31:269596006] +synonym: "carcinoma OF CERVIX" EXACT [MTH:166] +synonym: "carcinoma of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:285432005] +synonym: "carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C9039] +xref: MSH:D002583 +xref: NCI:C9039 +xref: OMIM:603956 +xref: SNOMEDCT_US_2015_03_01:154522004 +xref: SNOMEDCT_US_2015_03_01:154525002 +xref: SNOMEDCT_US_2015_03_01:188174005 +xref: SNOMEDCT_US_2015_03_01:269596006 +xref: SNOMEDCT_US_2015_03_01:269599004 +xref: SNOMEDCT_US_2015_03_01:285432005 +xref: SNOMEDCT_US_2015_03_01:363354003 +xref: SNOMEDCT_US_2015_03_01:93752005 +xref: UMLS_CUI:C0302592 +is_a: DOID:4362 ! cervical cancer + +[Term] +id: DOID:2898 +name: commensal streptococcal infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Streptococcal infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187343001] +synonym: "Streptococcal infectious disease (disorder)" EXACT [SNOMEDCT_2005_07_31:85769006] +synonym: "Streptococcus infection" EXACT [CSP2005:0368-3452] +is_obsolete: true + +[Term] +id: DOID:2905 +name: commensal Escherichia coli infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "E Coli Infection" EXACT [NCI2004_11_17:C34594] +synonym: "Escherichia coli infection" EXACT [CSP2005:0368-2714] +synonym: "Infection due to Escherichia coli (disorder)" EXACT [SNOMEDCT_2005_07_31:71057007] +is_obsolete: true + +[Term] +id: DOID:2906 +name: Rhabditida infectious disease +def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." [url:http\://en.wikipedia.org/wiki/Rhabditida] +is_obsolete: true + +[Term] +id: DOID:2907 +name: Goldenhar syndrome +def: "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch." [url:http\://en.wikipedia.org/wiki/Goldenhar_syndrome, url:http\://www.faces-cranio.org/Disord/Golden.htm, url:http\://www.healthline.com/galecontent/goldenhar-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Facio-auriculo-vertebral spectrum (disorder)" EXACT [SNOMEDCT_2005_07_31:367462009] +synonym: "First AND second branchial arch syndrome" EXACT [SNOMEDCT_2005_07_31:254025006] +synonym: "First arch syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:15557005] +synonym: "HEMIFACIAL MICROSOMIA" EXACT [] +synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [CSP2005:0725-7823] +synonym: "Otomandibular dysostosis (disorder)" EXACT [SNOMEDCT_2005_07_31:109393007] +xref: ICD10CM:Q87.0 +xref: MSH:D006053 +xref: NCI:C84740 +xref: OMIM:164210 +xref: ORDO:374 +xref: SNOMEDCT_US_2015_03_01:109393007 +xref: SNOMEDCT_US_2015_03_01:15557005 +xref: SNOMEDCT_US_2015_03_01:205418005 +xref: SNOMEDCT_US_2015_03_01:254025006 +xref: SNOMEDCT_US_2015_03_01:254026007 +xref: SNOMEDCT_US_2015_03_01:367462009 +xref: SNOMEDCT_US_2015_03_01:46567003 +xref: UMLS_CUI:C0265240 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:2908 +name: Treacher Collins syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "(Mandibulofacial dysostosis) or (Franceschetti syndrome)" EXACT [SNOMEDCT_2005_07_31:205416009] +synonym: "mandibulofacial dysostosis" EXACT [] +xref: ICD10CM:Q75.4 +xref: MSH:D008342 +xref: NCI:C75018 +xref: OMIM:154500 +xref: OMIM:248390 +xref: OMIM:613717 +xref: SNOMEDCT_US_2015_03_01:205416009 +xref: SNOMEDCT_US_2015_03_01:205804007 +xref: SNOMEDCT_US_2015_03_01:82203000 +xref: UMLS_CUI:C0242387 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:2910 +name: septic abortion +synonym: "abortion with sepsis" EXACT [SNOMEDCT_2005_07_31:30260009] +synonym: "Septic abortion (disorder)" EXACT [SNOMEDCT_2005_07_31:8272009] +is_obsolete: true + +[Term] +id: DOID:2913 +name: acute pancreatitis +alt_id: DOID:2912 +synonym: "acute necrotizing pancreatitis" EXACT [] +synonym: "acute necrotizing pancreatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:7881005] +synonym: "acute pancreatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:197456007] +synonym: "acute pancreatitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:39726008] +synonym: "acute pancreatitis NOS" EXACT [SNOMEDCT_2005_07_31:197461009] +synonym: "acute pancreatitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266476001] +synonym: "acute pancreatitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197457003] +synonym: "PANCREATITIS NECROTIZING" EXACT [MTH:NOCODE] +xref: ICD10CM:K85 +xref: ICD10CM:K85.9 +xref: ICD9CM:577.0 +xref: NCI:C95437 +xref: SNOMEDCT_US_2015_03_01:155834006 +xref: SNOMEDCT_US_2015_03_01:197456007 +xref: SNOMEDCT_US_2015_03_01:197457003 +xref: SNOMEDCT_US_2015_03_01:197461009 +xref: SNOMEDCT_US_2015_03_01:266476001 +xref: SNOMEDCT_US_2015_03_01:39726008 +xref: UMLS_CUI:C0001339 +is_a: DOID:4989 ! pancreatitis + +[Term] +id: DOID:2914 +name: immune system disease +def: "A disease of anatomical entity that is located_in the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system] +xref: EFO:0000540 +xref: ICD10CM:D89.9 +xref: ICD9CM:279 +xref: ICD9CM:279.9 +xref: SNOMEDCT_US_2015_03_01:154782004 +xref: SNOMEDCT_US_2015_03_01:191015009 +xref: SNOMEDCT_US_2015_03_01:191019003 +xref: SNOMEDCT_US_2015_03_01:191035005 +xref: UMLS_CUI:C0041806 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:2916 +name: hypersensitivity reaction type IV disease +synonym: "immunoproliferative disease" RELATED [] +xref: ICD10CM:C88.9 +xref: MSH:D007160 +xref: SNOMEDCT_US_2015_03_01:127071007 +xref: SNOMEDCT_US_2015_03_01:134363002 +xref: SNOMEDCT_US_2015_03_01:86295000 +xref: UMLS_CUI:C0021070 +is_a: DOID:0060056 ! hypersensitivity reaction disease + +[Term] +id: DOID:2917 +name: cryoglobulinemia +def: "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Cryoglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000540.htm] +synonym: "CRYOGLOBULINEMIA" EXACT [MTH:NOCODE] +synonym: "Cryoimmunoglobulinaemia" EXACT [SNOMEDCT_2005_07_31:30911005] +xref: ICD10CM:D89.1 +xref: MSH:D003449 +xref: NCI:C26736 +xref: SNOMEDCT_US_2015_03_01:30911005 +xref: UMLS_CUI:C0010403 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:2918 +name: paraproteinemia +def: "A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood." [url:http\://en.wikipedia.org/wiki/Paraproteinemia] +synonym: "Paraproteinaemia" EXACT [SNOMEDCT_2005_07_31:35601003] +synonym: "Paraproteinemia" EXACT [SNOMEDCT_2005_07_31:123061006] +synonym: "Paraproteinemia" EXACT [NCI2004_11_17:C27468] +synonym: "paraproteinemia" EXACT [CSP2005:0449-2705] +synonym: "Paraproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:278501001] +synonym: "Paraproteinemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190816000] +is_obsolete: true + +[Term] +id: DOID:292 +name: lacrimal system cancer +synonym: "lacrimal system neoplasm" EXACT [] +synonym: "neoplasm of lacrimal system (disorder)" EXACT [SNOMEDCT_2005_07_31:416510003] +synonym: "tumor of the lacrimal system" EXACT [NCI2004_11_17:C5102] +xref: NCI:C5102 +xref: SNOMEDCT_US_2015_03_01:416510003 +xref: UMLS_CUI:C1334361 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:2920 +name: membranoproliferative glomerulonephritis +synonym: "chronic glomerulonephritis, lobular" EXACT [MTHICD9_2006:582.2] +synonym: "Lobular glomerulonephritis" EXACT [SNOMEDCT_2005_07_31:80321008] +synonym: "Membranoproliferative Glomerulonephritis" EXACT [NCI2004_11_17:C34644] +synonym: "Membranoproliferative glomerulonephritis NOS" EXACT [MTHICD9_2006:583.2] +xref: MSH:D015432 +xref: NCI:C34644 +xref: SNOMEDCT_US_2015_03_01:80321008 +xref: UMLS_CUI:C0017662 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:2921 +name: glomerulonephritis +def: "A nephritis that causes inflammation of the glomeruli located_in kidney." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Glomerulonephritis] +xref: ICD10CM:N05 +xref: ICD10CM:N08 +xref: MSH:D005921 +xref: NCI:C26784 +xref: SNOMEDCT_US_2015_03_01:197648001 +xref: SNOMEDCT_US_2015_03_01:36171008 +xref: UMLS_CUI:C0017658 +is_a: DOID:10952 ! nephritis + +[Term] +id: DOID:2926 +name: Klippel-Trenaunay syndrome +def: "A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome, url:http\://omim.org/entry/149000] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "angioosteohypertrophy syndrome" EXACT [] +synonym: "Haemangiectatic hypertrophy" EXACT [SNOMEDCT_2005_07_31:59078009] +synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [] +xref: ICD10CM:Q87.2 +xref: MSH:D007715 +xref: NCI:C84801 +xref: OMIM:149000 +xref: SNOMEDCT_US_2015_03_01:59078009 +xref: UMLS_CUI:C0022739 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:2929 +name: Newcastle disease +def: "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds." [url:http\://en.wikipedia.org/wiki/Newcastle_disease, url:http\://www.daff.gov.au/animal-plant-health/pests-diseases-weeds/animal/newcastle, url:http\://www.inspection.gc.ca/english/sci/bio/anima/disemala/newcaste.shtml] +subset: zoonotic_infectious_disease +synonym: "Newcastle disease (disorder)" EXACT [SNOMEDCT_2005_07_31:258300000] +synonym: "Newcastle disease [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:89366008] +synonym: "Newcastle's disease" EXACT [SNOMEDCT_2005_07_31:155162002] +synonym: "Newcastle's disease" EXACT [SNOMEDCT_2005_07_31:267734002] +synonym: "Pseudo-fowlpest" EXACT [SNOMEDCT_2005_07_31:231859001] +xref: MSH:D009521 +xref: NCI:C34849 +xref: SNOMEDCT_US_2015_03_01:155162002 +xref: SNOMEDCT_US_2015_03_01:231859001 +xref: SNOMEDCT_US_2015_03_01:258300000 +xref: SNOMEDCT_US_2015_03_01:267734002 +xref: SNOMEDCT_US_2015_03_01:89366008 +xref: UMLS_CUI:C0027983 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:293 +name: lacrimal gland carcinoma +synonym: "carcinoma of the lacrimal gland" EXACT [NCI2004_11_17:C6129] +xref: NCI:C6129 +xref: UMLS_CUI:C1334358 +is_a: DOID:294 ! lacrimal gland cancer + +[Term] +id: DOID:2930 +name: Avulavirus infectious disease +def: "A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." [url:http\://www.expasy.ch/viralzone/all_by_species/84.html] +is_obsolete: true + +[Term] +id: DOID:2934 +name: aleutian mink disease +def: "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." [url:http\://en.wikipedia.org/wiki/Aleutian_Disease, url:http\://www.cdc.gov/eid/content/15/12/2040.htm] +subset: zoonotic_infectious_disease +synonym: "Aleutian disease (disorder)" EXACT [SNOMEDCT_2005_07_31:62251004] +xref: MSH:D000453 +xref: SNOMEDCT_US_2015_03_01:62251004 +xref: UMLS_CUI:C0002016 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2935 +name: Chediak-Higashi syndrome +def: "An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene." [PMID:25129365, url:http\://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Chediak - Steinbrinck anomaly" EXACT [SNOMEDCT_2005_07_31:191356000] +synonym: "CHS" EXACT [] +xref: ICD10CM:D72.0 +xref: ICD10CM:E70.330 +xref: MSH:D002609 +xref: NCI:C2941 +xref: OMIM:214500 +xref: ORDO:167 +xref: SNOMEDCT_US_2015_03_01:111396008 +xref: SNOMEDCT_US_2015_03_01:123309000 +xref: SNOMEDCT_US_2015_03_01:190696004 +xref: SNOMEDCT_US_2015_03_01:191356000 +xref: UMLS_CUI:C0007965 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:2936 +name: Parvoviridae infectious disease +def: "A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses." [url:http\://en.wikipedia.org/wiki/Parvoviridae] +is_obsolete: true + +[Term] +id: DOID:2937 +name: Human herpesvirus 8 infectious disease +def: "A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8." [url:http\://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320] +is_obsolete: true + +[Term] +id: DOID:2938 +name: Epstein-Barr virus infectious disease +def: "A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva." [url:http\://www.cdc.gov/ncidod/diseases/ebv.htm] +synonym: "EBV Infection" EXACT [NCI2004_11_17:C38759] +synonym: "Epstein-Barr virus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:402121009] +synonym: "Tumor Virus Infections" RELATED [] +is_obsolete: true + +[Term] +id: DOID:2939 +name: Herpesviridae infectious disease +def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." [url:http\://en.wikipedia.org/wiki/Herpesviridae] +synonym: "Herpesviridae disease" EXACT [CSP2005:3099-9294] +synonym: "Herpesvirus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:23513009] +is_obsolete: true + +[Term] +id: DOID:294 +name: lacrimal gland cancer +alt_id: DOID:291 +synonym: "malignant neoplasm of lacrimal gland" EXACT [SNOMEDCT_2005_07_31:93853008] +synonym: "malignant tumour of lacrimal gland" EXACT [SNOMEDCT_2005_07_31:188271007] +synonym: "neoplasm of lacrimal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:127004000] +synonym: "tumor of the lacrimal gland" EXACT [NCI2004_11_17:C4360] +xref: ICD9CM:190.2 +xref: NCI:C3563 +xref: NCI:C4360 +xref: SNOMEDCT_US_2015_03_01:127004000 +xref: SNOMEDCT_US_2015_03_01:188271007 +xref: SNOMEDCT_US_2015_03_01:188272000 +xref: SNOMEDCT_US_2015_03_01:93853008 +xref: UMLS_CUI:C0153627 +xref: UMLS_CUI:C0339124 +is_a: DOID:292 ! lacrimal system cancer + +[Term] +id: DOID:2942 +name: bronchiolitis +def: "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen." [url:http\://en.wikipedia.org/wiki/Bronchiolitis] +xref: MSH:D001988 +xref: NCI:C39658 +xref: SNOMEDCT_US_2015_03_01:4120002 +xref: UMLS_CUI:C0006271 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:2943 +name: Poxviridae infectious disease +def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses." [url:http\://en.wikipedia.org/wiki/Poxviridae] +synonym: "disease due to unassigned Poxviridae (disorder)" EXACT [SNOMEDCT_2005_07_31:32790009] +synonym: "Poxviridae disease" EXACT [CSP2005:3100-0734] +is_obsolete: true + +[Term] +id: DOID:2945 +name: severe acute respiratory syndrome +def: "A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." [url:http\://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS] +subset: zoonotic_infectious_disease +synonym: "SARS" EXACT [CSP2005:5004-0074] +synonym: "SARS-CoV infection" EXACT [SNOMEDCT_2005_07_31:398447004] +xref: ICD10CM:J12.81 +xref: ICD9CM:079.82 +xref: MSH:D045169 +xref: NCI:C85064 +xref: SNOMEDCT_US_2015_03_01:398447004 +xref: UMLS_CUI:C1175175 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:2946 +name: coronavirus infectious disease +def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [url:http\://en.wikipedia.org/wiki/Coronavirus] +is_obsolete: true + +[Term] +id: DOID:2947 +name: Yellow fever virus infectious disease +def: "A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness." [url:http\://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:2948 +name: Coronaviridae infectious disease +def: "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [url:http\://en.wikipedia.org/wiki/Coronaviridae] +is_obsolete: true + +[Term] +id: DOID:2949 +name: Nidovirales infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." [url:http\://en.wikipedia.org/wiki/Nidovirales] +is_obsolete: true + +[Term] +id: DOID:295 +name: eye carcinoma +def: "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye." [url:http\://www.cancer.gov/dictionary/?CdrID=444991] +synonym: "carcinoma of eye" RELATED [] +synonym: "Ocular carcinoma" EXACT [NCI2004_11_17:C6079] +xref: NCI:C6079 +xref: UMLS_CUI:C0848866 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:2950 +name: Orbivirus infectious disease +def: "A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks." [url:http\://en.wikipedia.org/wiki/Orbivirus] +is_obsolete: true + +[Term] +id: DOID:2951 +name: motion sickness +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Motion sickness" EXACT [ICD9CM_2006:994.6] +synonym: "Motion sickness (disorder)" EXACT [SNOMEDCT_2005_07_31:37031009] +synonym: "Motion sickness NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:212974006] +synonym: "Travel Sickness" EXACT [NCI2004_11_17:C34824] +synonym: "Travel sickness" EXACT [SNOMEDCT_2005_07_31:157749008] +synonym: "Travel sickness" EXACT [MTHICD9_2006:994.6] +synonym: "Travel sickness, unspecified" EXACT [SNOMEDCT_2005_07_31:212973000] +synonym: "Travel sickness, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:269278001] +xref: ICD10CM:T75.3 +xref: ICD9CM:994.6 +xref: MSH:D009041 +xref: NCI:C34824 +xref: OMIM:158280 +xref: SNOMEDCT_US_2015_03_01:157749008 +xref: SNOMEDCT_US_2015_03_01:212973000 +xref: SNOMEDCT_US_2015_03_01:212974006 +xref: SNOMEDCT_US_2015_03_01:269278001 +xref: SNOMEDCT_US_2015_03_01:37031009 +xref: UMLS_CUI:C0026603 +is_a: DOID:2952 ! inner ear disease + +[Term] +id: DOID:2952 +name: inner ear disease +synonym: "disease of inner ear (disorder)" EXACT [SNOMEDCT_2005_07_31:194690003] +synonym: "disorder of inner ear (disorder)" EXACT [SNOMEDCT_2005_07_31:232297009] +synonym: "Inner ear disorder" EXACT [NCI2004_11_17:C27166] +xref: ICD10CM:H80-H83 +xref: ICD10CM:H83.9 +xref: ICD10CM:H83.90 +xref: NCI:C27166 +xref: SNOMEDCT_US_2015_03_01:194690003 +xref: SNOMEDCT_US_2015_03_01:232297009 +xref: UMLS_CUI:C0494559 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:2956 +name: intra-abdominal lymphangioma +is_obsolete: true + +[Term] +id: DOID:2957 +name: pulmonary tuberculosis +def: "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." [url:http\://www.cdc.gov/tb/publications/factsheets/general/tb.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A15 +xref: ICD10CM:A15.0 +xref: ICD9CM:011 +xref: ICD9CM:011.9 +xref: ICD9CM:011.90 +xref: MSH:D014397 +xref: NCI:C26899 +xref: SNOMEDCT_US_2015_03_01:154283005 +xref: SNOMEDCT_US_2015_03_01:186180006 +xref: SNOMEDCT_US_2015_03_01:397190009 +xref: SNOMEDCT_US_2015_03_01:700272008 +xref: SNOMEDCT_US_2015_03_01:81483001 +xref: UMLS_CUI:C0041327 +is_a: DOID:399 ! tuberculosis + +[Term] +id: DOID:2958 +name: environmental illness +is_obsolete: true + +[Term] +id: DOID:2959 +name: hyperimmunoglobulin syndrome +xref: NCI:C27579 +xref: UMLS_CUI:C1334069 +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:296 +name: mixed lacrimal gland cancer +synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:254989000] +synonym: "carcinoma Ex Pleomorphic adenoma of the lacrimal gland" EXACT [NCI2004_11_17:C6804] +synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [NCI2004_11_17:C6090] +xref: NCI:C6804 +xref: SNOMEDCT_US_2015_03_01:254989000 +xref: UMLS_CUI:C0346342 +is_a: DOID:294 ! lacrimal gland cancer + +[Term] +id: DOID:2960 +name: photosensitive trichothiodystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "IBIDS syndrome" EXACT [] +synonym: "sulfur-deficient brittle hair syndrome" EXACT [] +synonym: "Tay syndrome" EXACT [] +synonym: "trichothiodystrophy" EXACT [NCI2004_11_17:C4924] +synonym: "trichothiodystrophy with congenital ichthyosis" EXACT [] +xref: MSH:D054463 +xref: NCI:C4924 +xref: OMIM:601675 +xref: UMLS_CUI:C1955934 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:2961 +name: DNA repair deficiency +def: "A monogenic disease that results from a reduced functionality of DNA repair." [url:http\://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder] +synonym: "deficiency of DNA repair (finding)" EXACT [SNOMEDCT_2005_07_31:28965003] +synonym: "DNA Repair disorder" EXACT [NCI2004_11_17:C7757] +is_obsolete: true + +[Term] +id: DOID:2962 +name: Cockayne syndrome +def: "An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:http\://en.wikipedia.org/wiki/ERCC6, url:http\://en.wikipedia.org/wiki/ERCC8, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Cockayne's syndrome" RELATED [CSP2005:0977-5812] +xref: ICD10CM:Q87.1 +xref: MSH:D003057 +xref: NCI:C9460 +xref: OMIM:133540 +xref: OMIM:216400 +xref: OMIM:216411 +xref: ORDO:191 +xref: ORDO:90321 +xref: ORDO:90322 +xref: ORDO:90324 +xref: SNOMEDCT_US_2015_03_01:205832003 +xref: SNOMEDCT_US_2015_03_01:21086008 +xref: UMLS_CUI:C0009207 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:2964 +name: periarthritis +xref: ICD10CM:M77.9 +xref: MSH:D010489 +xref: SNOMEDCT_US_2015_03_01:156665008 +xref: SNOMEDCT_US_2015_03_01:202892006 +xref: SNOMEDCT_US_2015_03_01:268091003 +xref: SNOMEDCT_US_2015_03_01:50921008 +xref: UMLS_CUI:C0031037 +is_a: DOID:2965 ! bursitis + +[Term] +id: DOID:2965 +name: bursitis +synonym: "Bursitis (disorder)" EXACT [SNOMEDCT_2005_07_31:84017003] +synonym: "Bursitis NOS" EXACT [SNOMEDCT_2005_07_31:156686008] +synonym: "Bursitis NOS" EXACT [SNOMEDCT_2005_07_31:202935009] +synonym: "Bursitis NOS" EXACT [MTHICD9_2006:727.3] +synonym: "Bursitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268000007] +xref: ICD10CM:M71.9 +xref: MSH:D002062 +xref: NCI:C94407 +xref: SNOMEDCT_US_2015_03_01:156677003 +xref: SNOMEDCT_US_2015_03_01:156686008 +xref: SNOMEDCT_US_2015_03_01:202935009 +xref: SNOMEDCT_US_2015_03_01:268000007 +xref: SNOMEDCT_US_2015_03_01:84017003 +xref: UMLS_CUI:C0006444 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:297 +name: pleomorphic adenoma carcinoma +synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:17264009] +synonym: "carcinoma in pleomorphic adenoma" EXACT [SNOMEDCT_2005_07_31:189811003] +xref: NCI:C4397 +xref: SNOMEDCT_US_2015_03_01:17264009 +xref: SNOMEDCT_US_2015_03_01:189811003 +xref: UMLS_CUI:C0344460 +is_a: DOID:8850 ! salivary gland cancer + +[Term] +id: DOID:2972 +name: renal artery obstruction +xref: ICD10CM:N28.0 +xref: MSH:D012078 +xref: UMLS_CUI:C0035066 +is_a: DOID:2388 ! renal artery disease + +[Term] +id: DOID:2973 +name: kidney cortex necrosis +synonym: "renal cortical necrosis" EXACT [SNOMEDCT_2005_07_31:45456005] +synonym: "renal cortical necrosis NOS" EXACT [MTHICD9_2006:583.6] +xref: ICD10CM:N17.1 +xref: MSH:D007673 +xref: SNOMEDCT_US_2015_03_01:444691002 +xref: SNOMEDCT_US_2015_03_01:45456005 +xref: UMLS_CUI:C0022656 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2974 +name: multicystic dysplastic kidney +synonym: "Multicystic dysplastic kidney" EXACT [SNOMEDCT_2005_07_31:82525005] +synonym: "Multicystic kidney" EXACT [MTHICD9_2006:753.19] +synonym: "Multicystic kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:204962002] +is_obsolete: true + +[Term] +id: DOID:2975 +name: cystic kidney +synonym: "cystic kidney disease" EXACT [SNOMEDCT_2005_07_31:268332003] +synonym: "KIDNEY CYST" EXACT [MTH:646] +synonym: "renal Cyst" EXACT [NCI2004_11_17:C3970] +xref: MSH:D052177 +xref: UMLS_CUI:C0022679 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2976 +name: glomerular vascular disorder +is_obsolete: true + +[Term] +id: DOID:2977 +name: primary hyperoxaluria +alt_id: DOID:2979 +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E72.53 +xref: MSH:D006959 +xref: MSH:D006960 +xref: OMIM:260000 +xref: OMIM:613616 +xref: SNOMEDCT_US_2015_03_01:17901006 +xref: SNOMEDCT_US_2015_03_01:190766003 +xref: SNOMEDCT_US_2015_03_01:367621000119107 +xref: UMLS_CUI:C0020500 +xref: UMLS_CUI:C0020501 +is_a: DOID:2978 ! carbohydrate metabolic disorder +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2978 +name: carbohydrate metabolic disorder +alt_id: DOID:9434 +def: "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism] +synonym: "disorder of carbohydrate transport and metabolism" EXACT [] +synonym: "inborn carbohydrate metabolism disorder" EXACT [CSP2005:0551-8201] +synonym: "inborn errors of carbohydrate metabolism" EXACT [] +xref: ICD9CM:271.8 +xref: MSH:D002239 +xref: UMLS_CUI:C0007001 +xref: UMLS_CUI:C0029777 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:298 +name: lacrimal gland adenocarcinoma +def: "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of lacrimal gland" RELATED [] +xref: NCI:C4541 +xref: SNOMEDCT_US_2015_03_01:254988008 +xref: UMLS_CUI:C0346341 +is_a: DOID:293 ! lacrimal gland carcinoma + +[Term] +id: DOID:2980 +name: bone marrow tansplantation nephropathy +is_obsolete: true + +[Term] +id: DOID:2981 +name: kidney papillary necrosis +synonym: "Necrotising renal papillitis" EXACT [SNOMEDCT_2005_07_31:197651008] +synonym: "Necrotizing renal papillitis" EXACT [MTHICD9_2006:584.7] +synonym: "Papillary necrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:90241004] +synonym: "renal PAPILLITIS NECROTIZING" EXACT [MTH:NOCODE] +xref: MSH:D007681 +xref: SNOMEDCT_US_2015_03_01:197651008 +xref: SNOMEDCT_US_2015_03_01:90241004 +xref: UMLS_CUI:C0022667 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2982 +name: perinephritis +synonym: "Perinephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:111404004] +xref: MSH:D010501 +xref: SNOMEDCT_US_2015_03_01:111404004 +xref: UMLS_CUI:C0031065 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2983 +name: anuria +synonym: "Anuria" EXACT [SNOMEDCT_2005_07_31:158479000] +synonym: "Anuria (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207182009] +synonym: "Anuria (finding)" EXACT [SNOMEDCT_2005_07_31:2472002] +synonym: "Suppression of urinary secretion" EXACT [MTHICD9_2006:788.5] +xref: MSH:D001002 +xref: SNOMEDCT_US_2015_03_01:139460001 +xref: SNOMEDCT_US_2015_03_01:158479000 +xref: SNOMEDCT_US_2015_03_01:207182009 +xref: SNOMEDCT_US_2015_03_01:2472002 +xref: UMLS_CUI:C0003460 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:2985 +name: chronic rejection of renal transplant +synonym: "CAN" EXACT [NCI2004_11_17:C38145] +synonym: "chronic rejection of renal transplant (disorder)" EXACT [SNOMEDCT_2005_07_31:236578006] +is_obsolete: true + +[Term] +id: DOID:2986 +name: IgA glomerulonephritis +def: "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus." [url:http\://en.wikipedia.org/wiki/IgA_nephropathy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000466.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Berger's IgA or IgG nephropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:197632002] +synonym: "Focal Glomerulonephritis" EXACT [NCI2004_11_17:C35280] +synonym: "IGA glomerulonephritis" EXACT [] +synonym: "IgA nephropathy" EXACT [CSP2005:4006-0049] +synonym: "IgA nephropathy" EXACT [NCI2004_11_17:C34643] +synonym: "IgA nephropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:236407003] +synonym: "primary IgA nephropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:68779003] +synonym: "segmental glomerulonephritis" EXACT [CSP2005:1681-9807] +xref: EFO:0004194 +xref: MSH:D005922 +xref: NCI:C34643 +xref: NCI:C35280 +xref: OMIM:161950 +xref: SNOMEDCT_US_2015_03_01:236407003 +xref: UMLS_CUI:C0017661 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:2987 +name: familial Mediterranean fever +def: "A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin." [url:http\://en.wikipedia.org/wiki/Familial_Mediterranean_fever, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "benign paroxysmal peritonitis" EXACT [MTHICD9_2006:277.3] +xref: ICD10CM:E85.0 +xref: ICD9CM:277.31 +xref: MSH:D010505 +xref: NCI:C84707 +xref: OMIM:134610 +xref: OMIM:249100 +xref: ORDO:342 +xref: SNOMEDCT_US_2015_03_01:12579009 +xref: UMLS_CUI:C0031069 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:2988 +name: antiphospholipid syndrome +def: "A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Antiphospholipid_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "antiphospholipid antibody syndrome" EXACT [CSP2005:5002-0009] +synonym: "Antiphospholipid syndrome" EXACT [SNOMEDCT_2005_07_31:19267009] +synonym: "Antiphospholipid syndrome" EXACT [SNOMEDCT_2005_07_31:201450008] +synonym: "Antiphospholipid syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:26843008] +xref: ICD10CM:D68.61 +xref: MSH:D016736 +xref: NCI:C61283 +xref: OMIM:107320 +xref: SNOMEDCT_US_2015_03_01:19267009 +xref: SNOMEDCT_US_2015_03_01:201450008 +xref: SNOMEDCT_US_2015_03_01:26843008 +xref: UMLS_CUI:C0085278 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:2989 +name: Atypical small acinar proliferation of the prostate gland +synonym: "Prostatic Atypical small acinar Proliferation" EXACT [NCI2004_11_17:C37268] +is_obsolete: true + +[Term] +id: DOID:299 +name: adenocarcinoma +def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189582009] +synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35917007] +synonym: "adenocarcinomas" EXACT [SNOMEDCT_2005_07_31:189578007] +xref: CSP:2000-0386 +xref: MSH:D000230 +xref: NCI:C2852 +xref: SNOMEDCT_US_2015_03_01:189578007 +xref: SNOMEDCT_US_2015_03_01:189582009 +xref: SNOMEDCT_US_2015_03_01:35917007 +xref: SNOMEDCT_US_2015_03_01:443961001 +xref: UMLS_CUI:C0001418 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:2990 +name: tumor of specialized prostatic stroma +is_obsolete: true + +[Term] +id: DOID:2991 +name: stromal neoplasm +synonym: "Stromal tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128752000] +synonym: "stromal tumors" EXACT [NCI2004_11_17:C6781] +is_obsolete: true + +[Term] +id: DOID:2992 +name: prostate neuroendocrine neoplasm +synonym: "neuroendocrine tumor of the prostate" EXACT [NCI2004_11_17:C5545] +xref: NCI:C5545 +xref: UMLS_CUI:C1335515 +is_a: DOID:10283 ! prostate cancer + +[Term] +id: DOID:2994 +name: germ cell cancer +alt_id: DOID:2157 +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] +synonym: "germ cell neoplasm" RELATED [CSP2005:2016-0850] +synonym: "germ cell tumour" RELATED [SNOMEDCT_2005_07_31:28307001] +synonym: "malignant tumor of the germ cell" EXACT [NCI2004_11_17:C4925] +xref: MSH:D009373 +xref: NCI:C3708 +xref: SNOMEDCT_US_2015_03_01:115233005 +xref: SNOMEDCT_US_2015_03_01:189839002 +xref: SNOMEDCT_US_2015_03_01:189854008 +xref: SNOMEDCT_US_2015_03_01:28307001 +xref: SNOMEDCT_US_2015_03_01:302853003 +xref: SNOMEDCT_US_2015_03_01:402878003 +xref: UMLS_CUI:C0205851 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:2995 +name: ovarian mixed germ cell-sex cord neoplasm +synonym: "Ovarian mixed germ cell-Sex Cord tumor" EXACT [NCI2004_11_17:C7321] +is_obsolete: true + +[Term] +id: DOID:2996 +name: mixed germ cell-sex cord neoplasm +synonym: "mixed germ cell-Sex Cord tumor" EXACT [NCI2004_11_17:C5241] +synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:406096006] +xref: NCI:C5241 +xref: SNOMEDCT_US_2015_03_01:406096006 +xref: SNOMEDCT_US_2015_03_01:703601005 +xref: UMLS_CUI:C1321220 +is_a: DOID:154 ! mixed cell type cancer + +[Term] +id: DOID:2997 +name: Sertoli-Leydig cell tumor +xref: MSH:D018310 +xref: SNOMEDCT_US_2015_03_01:34110004 +xref: UMLS_CUI:C0206723 +is_a: DOID:4757 ! sex cord-stromal neoplasm + +[Term] +id: DOID:2998 +name: testicular cancer +alt_id: DOID:12231 +alt_id: DOID:5554 +def: "A male reproductive system cancer that is located_in the testicles." [url:http\://www.cancer.gov/dictionary?CdrID=445090] +comment: OMIM mapping confirmed by DO. [SN]. +subset: TopNodes_DOcancerslim +synonym: "childhood neoplasm of the testis" EXACT [] +synonym: "neoplasm of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:126900000] +synonym: "pediatric testicular neoplasm" EXACT [NCI2004_11_17:C5053] +synonym: "testicular tumor" EXACT [NCI2004_11_17:C3404] +synonym: "testicular tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:236778008] +synonym: "testis cancer" EXACT [] +synonym: "testis neoplasm" EXACT [CSP2005:2016-2999] +xref: ICD10CM:C62 +xref: ICD10CM:C62.9 +xref: ICD10CM:C62.90 +xref: ICD9CM:186 +xref: MSH:D013736 +xref: NCI:C3404 +xref: NCI:C5053 +xref: NCI:C7251 +xref: OMIM:273300 +xref: SNOMEDCT_US_2015_03_01:126900000 +xref: SNOMEDCT_US_2015_03_01:188228003 +xref: SNOMEDCT_US_2015_03_01:236778008 +xref: SNOMEDCT_US_2015_03_01:269472003 +xref: SNOMEDCT_US_2015_03_01:363449006 +xref: SNOMEDCT_US_2015_03_01:94087009 +xref: UMLS_CUI:C0039590 +xref: UMLS_CUI:C0153594 +xref: UMLS_CUI:C1333010 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:2999 +name: granulosa cell tumor +alt_id: DOID:5333 +synonym: "Granulosa cell neoplasm" EXACT [NCI2004_11_17:C3070] +synonym: "Granulosa cell tumor, adult type (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:46585005] +synonym: "Granulosa cell tumour, sarcomatoid" EXACT [SNOMEDCT_2005_07_31:18861007] +synonym: "malignant granulosa cell neoplasm" EXACT [] +xref: MSH:D006106 +xref: NCI:C3070 +xref: NCI:C4205 +xref: SNOMEDCT_US_2015_03_01:18861007 +xref: SNOMEDCT_US_2015_03_01:189734000 +xref: SNOMEDCT_US_2015_03_01:46585005 +xref: UMLS_CUI:C0018206 +xref: UMLS_CUI:C0334401 +is_a: DOID:192 ! sex cord-gonadal stromal tumor +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:3 +name: disease by environmental exposure +alt_id: DOID:2711 +def: "A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents." [DO:wk\,ls, URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment] +synonym: "environmentally induced disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3001 +name: female reproductive endometrioid cancer +synonym: "endometrioid neoplasm" EXACT [NCI2004_11_17:C7113] +synonym: "endometrioid tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253013001] +synonym: "female reproductive endometrioid neoplasm" RELATED [] +xref: NCI:C7113 +xref: SNOMEDCT_US_2015_03_01:253013001 +xref: UMLS_CUI:C0474809 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:3002 +name: ovary neuroendocrine neoplasm +synonym: "neuroendocrine tumor of Ovary" EXACT [NCI2004_11_17:C5237] +xref: NCI:C5237 +xref: UMLS_CUI:C1335172 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:3003 +name: nipple neoplasm +synonym: "tumor of Nipple" EXACT [NCI2004_11_17:C5212] +xref: NCI:C5212 +xref: UMLS_CUI:C1112166 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:3004 +name: breast myoepithelial neoplasm +xref: NCI:C40389 +xref: UMLS_CUI:C1511319 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:3007 +name: breast ductal carcinoma +def: "A breast carcinoma that derives_from the lining of milk ducts." [url:http\://cancergenome.nih.gov/cancersselected/breastductal, url:http\://www.cancer.gov/dictionary?CdrID=45085] +subset: DO_cancer_slim +synonym: "duct carcinoma, NOS" EXACT [SNOMEDCT_2005_07_31:82711006] +xref: MSH:D044584 +xref: SNOMEDCT_US_2015_03_01:82711006 +xref: UMLS_CUI:C1176475 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:3008 +name: invasive ductal carcinoma +alt_id: DOID:3005 +synonym: "ductal adenocarcinoma" EXACT [NCI2004_11_17:C4017] +synonym: "Infiltrating ductal carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:408643008] +synonym: "Invasive ductal carcinoma, NST" EXACT [NCI2004_11_17:C4194] +xref: MSH:D018270 +xref: NCI:C4017 +xref: NCI:C4194 +xref: SNOMEDCT_US_2015_03_01:408643008 +xref: SNOMEDCT_US_2015_03_01:58477004 +xref: UMLS_CUI:C1134719 +xref: UMLS_CUI:C1527349 +is_a: DOID:3007 ! breast ductal carcinoma + +[Term] +id: DOID:3009 +name: breast neuroendocrine neoplasm +synonym: "neuroendocrine tumor of the breast" EXACT [NCI2004_11_17:C5169] +xref: NCI:C5169 +xref: UMLS_CUI:C1332635 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:3010 +name: lobular neoplasia +synonym: "lobular carcinoma in situ" EXACT [] +synonym: "Lobular Intraepithelial Neoplasia" EXACT [NCI2004_11_17:C27939] +xref: NCI:C27939 +xref: UMLS_CUI:C0861352 +is_a: DOID:8791 ! breast carcinoma in situ + +[Term] +id: DOID:3011 +name: breast granular cell tumor +xref: NCI:C40400 +xref: UMLS_CUI:C1511312 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:3012 +name: Li-Fraumeni syndrome +def: "An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." [url:http\://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome, url:http\://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Li-Fraumeni Familiar cancer Susceptibility syndrome" EXACT [NCI2004_11_17:C3476] +synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT [] +synonym: "SBLA syndrome" EXACT [] +xref: MSH:D016864 +xref: NCI:C3476 +xref: OMIM:151623 +xref: OMIM:609265 +xref: OMIM:609266 +xref: ORDO:524 +xref: SNOMEDCT_US_2015_03_01:428850001 +xref: UMLS_CUI:C0085390 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:3013 +name: intraductal breast neoplasm +xref: NCI:C36083 +xref: UMLS_CUI:C0948967 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:3015 +name: breast papillary neoplasm +synonym: "Papillary tumor of breast" EXACT [NCI2004_11_17:C5206] +is_obsolete: true + +[Term] +id: DOID:3016 +name: breast malignant phyllodes tumor +alt_id: DOID:1632 +alt_id: DOID:3018 +synonym: "malignant cystosarcoma phyllodes" EXACT [] +synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189826001] +synonym: "malignant Mammary Phyllodes tumor" EXACT [NCI2004_11_17:C4504] +synonym: "malignant Phyllodes neoplasm" EXACT [NCI2004_11_17:C4275] +synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134331008] +synonym: "malignant phyllodes tumor of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254844000] +synonym: "Phyllodes breast neoplasm" EXACT [NCI2004_11_17:C7575] +synonym: "phyllodes breast tumor" EXACT [] +synonym: "Phyllodes tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:87913009] +xref: MSH:D003557 +xref: NCI:C4275 +xref: NCI:C4504 +xref: NCI:C7575 +xref: SNOMEDCT_US_2015_03_01:134331008 +xref: SNOMEDCT_US_2015_03_01:189826001 +xref: SNOMEDCT_US_2015_03_01:254844000 +xref: SNOMEDCT_US_2015_03_01:87913009 +xref: UMLS_CUI:C0238031 +xref: UMLS_CUI:C0346154 +xref: UMLS_CUI:C0600066 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:3017 +name: breast sarcoma +def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells." [url:http\://en.wikipedia.org/wiki/Sarcoma] +synonym: "sarcoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:278050001] +xref: NCI:C4670 +xref: SNOMEDCT_US_2015_03_01:278050001 +xref: UMLS_CUI:C0349667 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:3019 +name: postpartum acute renal failure +is_obsolete: true + +[Term] +id: DOID:302 +name: substance abuse +def: "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning." [url:http\://allpsych.com/disorders/substance/substanceabuse.html, url:http\://en.wikipedia.org/wiki/Substance_abuse] +xref: MSH:D019966 +xref: NCI:C16522 +xref: SNOMEDCT_US_2015_03_01:26416006 +xref: UMLS_CUI:C0013146 +is_a: DOID:303 ! substance-related disorder + +[Term] +id: DOID:3020 +name: Complication of labor and/or delivery +is_obsolete: true + +[Term] +id: DOID:3021 +name: acute kidney failure +is_a: DOID:1074 ! kidney failure + +[Term] +id: DOID:3022 +name: complication of the puerperium +is_obsolete: true + +[Term] +id: DOID:3024 +name: prostatic acinar adenocarcinoma +synonym: "Prostatic acinar adenocarcinoma" EXACT [NCI2004_11_17:C5596] +xref: NCI:C5596 +xref: UMLS_CUI:C1332139 +is_a: DOID:2526 ! prostate adenocarcinoma + +[Term] +id: DOID:3025 +name: acinar cell carcinoma +def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells." [url:http\://radiology.rsna.org/content/232/2/554.full] +synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:45410002] +synonym: "acinic cell carcinoma" EXACT [NCI2004_11_17:C3768] +xref: MSH:D018267 +xref: NCI:C3768 +xref: SNOMEDCT_US_2015_03_01:45410002 +xref: UMLS_CUI:C0206685 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:3026 +name: metastatic prostatic adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:3027 +name: metastatic adenocarcinoma +synonym: "adenocarcinoma, metastatic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4590003] +synonym: "adenocarcinoma, metastatic, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189584005] +is_obsolete: true + +[Term] +id: DOID:3028 +name: intramucosal adenocarcinoma colon adenoma +synonym: "adenoma of colon with intramucosal adenocarcinoma" RELATED [] +synonym: "Colonic adenoma with Intramucosal adenocarcinoma" EXACT [NCI2004_11_17:C27413] +is_obsolete: true + +[Term] +id: DOID:3029 +name: colon mucinous adenocarcinoma +synonym: "Colonic mucinous adenocarcinoma" EXACT [NCI2004_11_17:C7966] +xref: NCI:C7966 +xref: UMLS_CUI:C0279639 +is_a: DOID:234 ! colon adenocarcinoma + +[Term] +id: DOID:303 +name: substance-related disorder +def: "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning." [url:http\://allpsych.com/disorders/substance/index.html] +xref: MSH:D019966 +xref: NCI:C92203 +xref: UMLS_CUI:C0236969 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:3030 +name: mucinous adenocarcinoma +alt_id: DOID:4532 +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." [url:http\://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm, url:http\://medical-dictionary.thefreedictionary.com/mucinous+carcinoma] +synonym: "mucin-producing adenocarcinoma" EXACT [] +synonym: "Mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:900006] +synonym: "Mucin-Secreting adenocarcinoma" EXACT [NCI2004_11_17:C27379] +synonym: "Mucin-Secreting carcinoma" EXACT [NCI2004_11_17:C27825] +synonym: "Mucous carcinoma" EXACT [NCI2004_11_17:C26712] +synonym: "Pseudomyxoma peritonei with unknown primary site" EXACT [SNOMEDCT_2005_07_31:72495009] +xref: MSH:D002288 +xref: NCI:C26712 +xref: NCI:C27379 +xref: NCI:C27825 +xref: SNOMEDCT_US_2015_03_01:72495009 +xref: SNOMEDCT_US_2015_03_01:900006 +xref: UMLS_CUI:C0007130 +xref: UMLS_CUI:C0334368 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:3033 +name: colon signet ring adenocarcinoma +synonym: "Colonic Signet Ring adenocarcinoma" EXACT [NCI2004_11_17:C7967] +is_a: DOID:234 ! colon adenocarcinoma + +[Term] +id: DOID:3038 +name: submucosal invasive colon adenocarcinoma +xref: NCI:C38760 +xref: UMLS_CUI:C1515024 +is_a: DOID:234 ! colon adenocarcinoma + +[Term] +id: DOID:3039 +name: cecum adenocarcinoma +def: "A cecum carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of cecum" RELATED [] +synonym: "adenocarcinoma of cecum (disorder)" EXACT [SNOMEDCT_2005_07_31:413446001] +synonym: "Cecal adenocarcinoma" EXACT [NCI2004_11_17:C5543] +xref: NCI:C5543 +xref: SNOMEDCT_US_2015_03_01:413446001 +xref: UMLS_CUI:C1332866 +is_a: DOID:1519 ! cecum carcinoma + +[Term] +id: DOID:3042 +name: allergic contact dermatitis +def: "A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_contact_dermatitis] +synonym: "Allergic Contact Dermatitis" EXACT [NCI2004_11_17:C26998] +synonym: "Allergic contact dermatitis" EXACT [SNOMEDCT_2005_07_31:200841005] +synonym: "Allergic contact dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:238575004] +xref: ICD10CM:L23 +xref: ICD10CM:L23.9 +xref: MSH:D017449 +xref: NCI:C26998 +xref: SNOMEDCT_US_2015_03_01:200841005 +xref: SNOMEDCT_US_2015_03_01:238575004 +xref: UMLS_CUI:C0162820 +is_a: DOID:2773 ! contact dermatitis + +[Term] +id: DOID:3044 +name: food allergy +def: "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system." [url:http\://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx] +synonym: "food hypersensitivity" EXACT [CSP2005:1525-0902] +xref: MSH:D005512 +xref: SNOMEDCT_US_2015_03_01:157801005 +xref: SNOMEDCT_US_2015_03_01:213018006 +xref: SNOMEDCT_US_2015_03_01:414285001 +xref: SNOMEDCT_US_2015_03_01:52332009 +xref: UMLS_CUI:C0016470 +is_a: DOID:1205 ! hypersensitivity reaction type I disease + +[Term] +id: DOID:3047 +name: Wissler's syndrome +def: "A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia." [url:http\://en.wikipedia.org/wiki/Wissler%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/8150635] +subset: gram-positive_bacterial_infectious_disease +synonym: "Wissler syndrome" EXACT [] +synonym: "Wissler's subsepsis allergica" EXACT [] +synonym: "Wissler-Fanconi syndrome (finding)" EXACT [SNOMEDCT_2005_07_31:68190001] +xref: MSH:D014924 +xref: SNOMEDCT_US_2015_03_01:68190001 +xref: UMLS_CUI:C0043195 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:3049 +name: Churg-Strauss syndrome +def: "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." [url:http\://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/, url:http\://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855] +synonym: "Allergic granulomatosis angiitis (disorder)" EXACT [SNOMEDCT_2005_07_31:82275008] +synonym: "Allergic Granulomatous Angiitis" EXACT [NCI2004_11_17:C34481] +synonym: "Churg-Strauss vasculitis" EXACT [SNOMEDCT_2005_07_31:195362002] +xref: ICD10CM:M30.1 +xref: MSH:D015267 +xref: NCI:C34481 +xref: SNOMEDCT_US_2015_03_01:195362002 +xref: SNOMEDCT_US_2015_03_01:82275008 +xref: UMLS_CUI:C0008728 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:305 +name: carcinoma +alt_id: DOID:2428 +alt_id: DOID:6570 +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "epithelioma" EXACT [CSP2005:2000-5801] +synonym: "malignant Epithelioma" EXACT [NCI2004_11_17:C6927] +xref: CSP:2000-1867 +xref: MSH:D002277 +xref: MSH:D009375 +xref: NCI:C2916 +xref: NCI:C3709 +xref: SNOMEDCT_US_2015_03_01:118285006 +xref: SNOMEDCT_US_2015_03_01:134207000 +xref: SNOMEDCT_US_2015_03_01:154433003 +xref: SNOMEDCT_US_2015_03_01:188083002 +xref: SNOMEDCT_US_2015_03_01:189546004 +xref: SNOMEDCT_US_2015_03_01:189549006 +xref: SNOMEDCT_US_2015_03_01:189559007 +xref: SNOMEDCT_US_2015_03_01:269513004 +xref: SNOMEDCT_US_2015_03_01:68453008 +xref: SNOMEDCT_US_2015_03_01:71298006 +xref: UMLS_CUI:C0007097 +xref: UMLS_CUI:C0553707 +xref: UMLS_CUI:C1368683 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:3052 +name: Balkan nephropathy +def: "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." [url:http\://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Balkan endemic nephropathy" EXACT [] +synonym: "Danubian endemic familial nephropathy" EXACT [] +synonym: "DEFN " RELATED [] +xref: ICD10CM:N15.0 +xref: MSH:D001449 +xref: NCI:C84584 +xref: OMIM:124100 +xref: SNOMEDCT_US_2015_03_01:197748005 +xref: SNOMEDCT_US_2015_03_01:26121002 +xref: UMLS_CUI:C0004698 +is_a: DOID:1063 ! interstitial nephritis + +[Term] +id: DOID:3055 +name: paratyphoid fever +alt_id: DOID:13324 +alt_id: DOID:13325 +alt_id: DOID:3053 +def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." [url:http\://en.wikipedia.org/wiki/Paratyphoid_fever] +subset: gram-negative_bacterial_infectious_disease +synonym: "Paratyphoid" EXACT [SNOMEDCT_2005_07_31:266174006] +synonym: "paratyphoid a" EXACT [] +synonym: "Paratyphoid A fever (disorder)" EXACT [SNOMEDCT_2005_07_31:76623002] +synonym: "paratyphoid b" EXACT [] +synonym: "Paratyphoid B fever (disorder)" EXACT [SNOMEDCT_2005_07_31:71085009] +synonym: "paratyphoid c" EXACT [] +synonym: "Paratyphoid C fever (disorder)" EXACT [SNOMEDCT_2005_07_31:51254007] +synonym: "Paratyphoid Fever A" EXACT [NCI2004_11_17:C34894] +synonym: "Paratyphoid fever A" EXACT [ICD9CM_2006:002.1] +synonym: "Paratyphoid Fever B" EXACT [NCI2004_11_17:C34895] +synonym: "Paratyphoid fever B" EXACT [ICD9CM_2006:002.2] +synonym: "Paratyphoid Fever C" EXACT [NCI2004_11_17:C34896] +synonym: "Paratyphoid fever C" EXACT [ICD9CM_2006:002.3] +xref: ICD10CM:A01.1 +xref: ICD10CM:A01.2 +xref: ICD10CM:A01.3 +xref: ICD10CM:A01.4 +xref: ICD9CM:002.1 +xref: ICD9CM:002.2 +xref: ICD9CM:002.3 +xref: ICD9CM:002.9 +xref: MSH:D010284 +xref: NCI:C34894 +xref: NCI:C34895 +xref: NCI:C34896 +xref: NCI:C34897 +xref: SNOMEDCT_US_2015_03_01:154270009 +xref: SNOMEDCT_US_2015_03_01:186092009 +xref: SNOMEDCT_US_2015_03_01:187268002 +xref: SNOMEDCT_US_2015_03_01:266174006 +xref: SNOMEDCT_US_2015_03_01:51254007 +xref: SNOMEDCT_US_2015_03_01:71085009 +xref: SNOMEDCT_US_2015_03_01:76623002 +xref: SNOMEDCT_US_2015_03_01:85904008 +xref: UMLS_CUI:C0030528 +xref: UMLS_CUI:C0343375 +xref: UMLS_CUI:C0343376 +xref: UMLS_CUI:C0343377 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:3056 +name: Paramyxoviridae infectious disease +def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." [url:http\://en.wikipedia.org/wiki/Paramyxoviridae] +is_obsolete: true + +[Term] +id: DOID:306 +name: dyskinetic syndrome +synonym: "Dyskinesia" EXACT [SNOMEDCT_2005_07_31:206824003] +is_obsolete: true + +[Term] +id: DOID:3067 +name: taste disorder +synonym: "disorder of taste (disorder)" EXACT [SNOMEDCT_2005_07_31:399993004] +synonym: "taste disorder" EXACT [CSP2005:2683-4340] +is_obsolete: true + +[Term] +id: DOID:3068 +name: glioblastoma multiforme +alt_id: DOID:3075 +alt_id: DOID:3080 +def: "An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes." [url:http\://cancergenome.nih.gov/cancersselected/glioblastomamultiforme, url:http\://en.wikipedia.org/wiki/Glioblastoma_multiforme, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] +subset: DO_cancer_slim +synonym: "adult glioblastoma multiforme" EXACT [] +synonym: "GBM" EXACT [] +synonym: "GBM (Glioblastoma)" EXACT [NCI2004_11_17:C3058] +synonym: "grade IV adult Astrocytic tumor" EXACT [NCI2004_11_17:C9094] +synonym: "primary glioblastoma multiforme" EXACT [] +synonym: "spongioblastoma multiforme" EXACT [CSP2005:2012-6410] +xref: MSH:D005909 +xref: NCI:C3058 +xref: NCI:C39750 +xref: NCI:C9094 +xref: SNOMEDCT_US_2015_03_01:189917003 +xref: SNOMEDCT_US_2015_03_01:269506004 +xref: SNOMEDCT_US_2015_03_01:63634009 +xref: UMLS_CUI:C0017636 +xref: UMLS_CUI:C0278878 +xref: UMLS_CUI:C1514422 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:3069 +name: astrocytoma +alt_id: DOID:4861 +def: "A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum." [url:http\://en.wikipedia.org/wiki/Astrocytoma, url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] +synonym: "Astrocytic tumor" EXACT [NCI2004_11_17:C6958] +synonym: "astrocytoma of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:254938000] +synonym: "astrocytoma of Cerebrum" EXACT [NCI2004_11_17:C4951] +synonym: "astrocytoma, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:38713004] +synonym: "astroglioma" EXACT [CSP2005:2012-6768] +synonym: "cerebral astrocytoma" EXACT [] +xref: MSH:D001254 +xref: NCI:C4951 +xref: NCI:C60781 +xref: NCI:C6958 +xref: SNOMEDCT_US_2015_03_01:189914005 +xref: SNOMEDCT_US_2015_03_01:38713004 +xref: UMLS_CUI:C0004114 +xref: UMLS_CUI:C0750935 +is_a: DOID:3070 ! malignant glioma + +[Term] +id: DOID:3070 +name: malignant glioma +alt_id: DOID:2627 +def: "A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine." [url:http\://en.wikipedia.org/wiki/Malignant_glioma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +subset: TopNodes_DOcancerslim +synonym: "glial cell tumor" EXACT [CSP2005:2012-6589] +synonym: "glioma" EXACT [] +synonym: "glioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115240006] +synonym: "glioma NOS" EXACT [SNOMEDCT_2005_07_31:189909006] +synonym: "glioma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189926000] +synonym: "glioma, malignant" EXACT [SNOMEDCT_2005_07_31:189909006] +synonym: "glioma, malignant, no ICD-O subtype" EXACT [SNOMEDCT_2005_07_31:74532006] +synonym: "glioma, NOS" EXACT [SNOMEDCT_2005_07_31:74532006] +synonym: "Gliomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189908003] +synonym: "malignant glioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:269505000] +synonym: "malignant glioma - category" EXACT [SNOMEDCT_2005_07_31:416500007] +synonym: "malignant Neuroglial tumor" EXACT [NCI2004_11_17:C4822] +synonym: "Neuroglial tumor" EXACT [NCI2004_11_17:C3059] +xref: KEGG:05214 +xref: MSH:D005910 +xref: NCI:C3059 +xref: NCI:C4822 +xref: OMIM:137800 +xref: OMIM:607248 +xref: OMIM:613028 +xref: OMIM:613029 +xref: OMIM:613030 +xref: OMIM:613031 +xref: OMIM:613032 +xref: OMIM:613033 +xref: ORDO:182067 +xref: SNOMEDCT_US_2015_03_01:115240006 +xref: SNOMEDCT_US_2015_03_01:189908003 +xref: SNOMEDCT_US_2015_03_01:189909006 +xref: SNOMEDCT_US_2015_03_01:189926000 +xref: SNOMEDCT_US_2015_03_01:269505000 +xref: SNOMEDCT_US_2015_03_01:393564001 +xref: SNOMEDCT_US_2015_03_01:416500007 +xref: SNOMEDCT_US_2015_03_01:74532006 +xref: UMLS_CUI:C0017638 +xref: UMLS_CUI:C0555198 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:3071 +name: gliosarcoma +synonym: "Glioblastoma with sarcomatous component" EXACT [SNOMEDCT_2005_07_31:189918008] +xref: MSH:D018316 +xref: NCI:C3796 +xref: SNOMEDCT_US_2015_03_01:189909006 +xref: SNOMEDCT_US_2015_03_01:189918008 +xref: SNOMEDCT_US_2015_03_01:35262004 +xref: UMLS_CUI:C0206726 +is_a: DOID:3068 ! glioblastoma multiforme + +[Term] +id: DOID:3072 +name: secondary glioblastoma multiforme +is_obsolete: true + +[Term] +id: DOID:3073 +name: brain glioblastoma multiforme +synonym: "brain Glioblastoma" EXACT [NCI2004_11_17:C4642] +synonym: "Glioblastoma multiforme of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:276828006] +xref: NCI:C4642 +xref: SNOMEDCT_US_2015_03_01:276828006 +xref: UMLS_CUI:C0349543 +is_a: DOID:0060108 ! brain glioma + +[Term] +id: DOID:3074 +name: giant cell glioblastoma +def: "A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells." [url:http\://en.wikipedia.org/wiki/Giant-cell_glioblastoma, url:http\://neuro-oncology.oxfordjournals.org/content/11/6/833.full] +synonym: "Monstrocellular sarcoma [obs]" EXACT [SNOMEDCT_2005_07_31:44529004] +xref: MSH:D005909 +xref: NCI:C4325 +xref: SNOMEDCT_US_2015_03_01:44529004 +xref: UMLS_CUI:C0334588 +is_a: DOID:3068 ! glioblastoma multiforme + +[Term] +id: DOID:3076 +name: adult astrocytic tumour +synonym: "adult astrocytoma" EXACT [NCI2004_11_17:C7049] +xref: NCI:C7049 +xref: UMLS_CUI:C1332183 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:3077 +name: anaplastic childhood astrocytoma +synonym: "pediatric Glioblastoma Multiforme" EXACT [NCI2004_11_17:C5136] +synonym: "Undifferentiated pediatric astrocytoma" EXACT [NCI2004_11_17:C6215] +is_obsolete: true + +[Term] +id: DOID:3078 +name: grade III astrocytoma +def: "An astrocytoma that is characterized by cells with regular, round to oval nuclei." [url:http\://en.wikipedia.org/wiki/Anaplastic_astrocytoma, url:http\://www.abta.org/brain-tumor-information/types-of-tumors/astrocytoma.html, url:http\://www.cancer.gov/dictionary?CdrID=45591] +subset: DO_cancer_slim +synonym: "anaplastic astrocytoma" EXACT [] +synonym: "grade III Astrocytic tumor" EXACT [NCI2004_11_17:C9477] +xref: MSH:D001254 +xref: NCI:C9477 +xref: SNOMEDCT_US_2015_03_01:55353007 +xref: UMLS_CUI:C0334579 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:3079 +name: juvenile astrocytoma +synonym: "Juvenile astrocytoma" EXACT [SNOMEDCT_2005_07_31:67859002] +synonym: "Juvenile astrocytoma" EXACT [SNOMEDCT_2005_07_31:128854008] +synonym: "Juvenile astrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253065004] +synonym: "pediatric astrocytoma" EXACT [NCI2004_11_17:C9022] +xref: NCI:C9022 +xref: SNOMEDCT_US_2015_03_01:128854008 +xref: SNOMEDCT_US_2015_03_01:253065004 +xref: SNOMEDCT_US_2015_03_01:67859002 +xref: UMLS_CUI:C1321865 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:308 +name: early myoclonic encephalopathy +synonym: "Epileptic seizures - myoclonic (disorder)" EXACT [SNOMEDCT_2005_07_31:192992007] +synonym: "Epileptic seizures, myoclonic" EXACT [MTHICD9_2006:345.1] +synonym: "myoclonia epileptica" EXACT [CSP2005:0485-7984] +synonym: "myoclonic epilepsy" EXACT [] +synonym: "Myoclonic seizure" EXACT [SNOMEDCT_2005_07_31:192847001] +synonym: "Myoclonic seizure disorder" EXACT [SNOMEDCT_2005_07_31:37356005] +xref: MSH:D004831 +xref: SNOMEDCT_US_2015_03_01:192847001 +xref: SNOMEDCT_US_2015_03_01:192992007 +xref: SNOMEDCT_US_2015_03_01:37356005 +xref: UMLS_CUI:C0014550 +is_a: DOID:0050702 ! neonatal period electroclinical syndrome + +[Term] +id: DOID:3081 +name: cystic lymphangioma +synonym: "cystic Hygroma" EXACT [NCI2004_11_17:C3724] +synonym: "cystic hygroma (disorder)" EXACT [SNOMEDCT_2005_07_31:399882002] +synonym: "cystic lymphangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:40225001] +xref: MSH:D018191 +xref: NCI:C3724 +xref: SNOMEDCT_US_2015_03_01:399882002 +xref: SNOMEDCT_US_2015_03_01:40225001 +xref: SNOMEDCT_US_2015_03_01:423984004 +xref: UMLS_CUI:C0206620 +is_a: DOID:1475 ! lymphangioma + +[Term] +id: DOID:3082 +name: interstitial lung disease +synonym: "ILD" EXACT [CSP2005:4007-0072] +xref: ICD10CM:J84.9 +xref: MSH:D017563 +xref: SNOMEDCT_US_2015_03_01:233703007 +xref: SNOMEDCT_US_2015_03_01:64667001 +xref: UMLS_CUI:C0206062 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:3083 +name: chronic obstructive pulmonary disease +alt_id: DOID:11500 +alt_id: DOID:6144 +synonym: "chronic obstructive airway disease" EXACT [] +synonym: "chronic obstructive lung disease" EXACT [SNOMEDCT_2005_07_31:195948000] +synonym: "COLD (chronic obstructive lung disease)" EXACT [CSP2005:4004-0004] +synonym: "COPD" EXACT [NCI2004_11_17:C3199] +xref: EFO:0000341 +xref: ICD10CM:J44.9 +xref: MSH:D029424 +xref: NCI:C3199 +xref: SNOMEDCT_US_2015_03_01:10169006 +xref: SNOMEDCT_US_2015_03_01:13645005 +xref: SNOMEDCT_US_2015_03_01:155565006 +xref: SNOMEDCT_US_2015_03_01:155569000 +xref: SNOMEDCT_US_2015_03_01:155585005 +xref: SNOMEDCT_US_2015_03_01:155617000 +xref: SNOMEDCT_US_2015_03_01:195935004 +xref: SNOMEDCT_US_2015_03_01:195948000 +xref: SNOMEDCT_US_2015_03_01:196003006 +xref: SNOMEDCT_US_2015_03_01:413846005 +xref: UMLS_CUI:C0024117 +is_a: DOID:2320 ! obstructive lung disease + +[Term] +id: DOID:3086 +name: gingival overgrowth +synonym: "Gingival enlargement (disorder)" EXACT [SNOMEDCT_2005_07_31:54711002] +synonym: "Gingival enlargement NOS" EXACT [SNOMEDCT_2005_07_31:196375006] +synonym: "Gingival enlargement NOS" EXACT [MTHICD9_2006:523.8] +synonym: "Gingival enlargement NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:271083000] +xref: ICD10CM:K06.1 +xref: MSH:D019214 +xref: SNOMEDCT_US_2015_03_01:196375006 +xref: SNOMEDCT_US_2015_03_01:271083000 +xref: SNOMEDCT_US_2015_03_01:54711002 +xref: UMLS_CUI:C0376480 +is_a: DOID:1483 ! gingival disease + +[Term] +id: DOID:3087 +name: gingivitis +alt_id: DOID:10422 +alt_id: DOID:10424 +synonym: "acute gingivitis" EXACT [] +synonym: "chronic gingivitis" EXACT [ICD9CM_2006:523.1, SNOMEDCT_2005_07_31:155644005, SNOMEDCT_2005_07_31:196355002, SNOMEDCT_2005_07_31:266490003] +xref: ICD10CM:K05.0 +xref: ICD10CM:K05.00 +xref: ICD10CM:K05.1 +xref: ICD10CM:K05.10 +xref: ICD9CM:523.0 +xref: ICD9CM:523.1 +xref: MSH:D005891 +xref: NCI:C34474 +xref: NCI:C34636 +xref: SNOMEDCT_US_2015_03_01:155643004 +xref: SNOMEDCT_US_2015_03_01:155644005 +xref: SNOMEDCT_US_2015_03_01:196355002 +xref: SNOMEDCT_US_2015_03_01:196358000 +xref: SNOMEDCT_US_2015_03_01:234990002 +xref: SNOMEDCT_US_2015_03_01:266490003 +xref: SNOMEDCT_US_2015_03_01:31642005 +xref: SNOMEDCT_US_2015_03_01:66383009 +xref: SNOMEDCT_US_2015_03_01:72621003 +xref: UMLS_CUI:C0008684 +xref: UMLS_CUI:C0017574 +xref: UMLS_CUI:C0155937 +is_a: DOID:1483 ! gingival disease + +[Term] +id: DOID:3089 +name: granulomatous orchitis +synonym: "Non-Specific Granulomatous Orchitis" EXACT [NCI2004_11_17:C27162] +xref: NCI:C27162 +xref: SNOMEDCT_US_2015_03_01:50390006 +xref: UMLS_CUI:C0436545 +is_a: DOID:2519 ! testicular disease + +[Term] +id: DOID:3090 +name: testicular non-neoplastic disease +is_obsolete: true + +[Term] +id: DOID:3091 +name: Acinetobacter infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3092 +name: opportunistic Moraxellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3093 +name: nervous system cancer +alt_id: DOID:1193 +alt_id: DOID:3195 +alt_id: DOID:4695 +def: "An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system." [url:http\://emedicine.medscape.com/oncology, url:http\://en.wikipedia.org/wiki/Nervous_system_disease] +synonym: "malignant neoplasm of nervous system" EXACT [] +synonym: "neoplasm of nervous system (disorder)" EXACT [SNOMEDCT_2005_07_31:126950007] +synonym: "nervous system neoplasm" EXACT [CSP2005:2012-5157] +synonym: "neural neoplasm" EXACT [] +synonym: "neural tumor" EXACT [NCI2004_11_17:C35562] +synonym: "tumor of the nervous system" EXACT [NCI2004_11_17:C3268] +xref: ICD9CM:192 +xref: ICD9CM:192.9 +xref: MSH:D009380 +xref: NCI:C35562 +xref: SNOMEDCT_US_2015_03_01:188306000 +xref: UMLS_CUI:C0027665 +xref: UMLS_CUI:C0153643 +xref: UMLS_CUI:C1334956 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:3094 +name: neuroepithelial neoplasm +synonym: "tumor of Neuroepithelium" EXACT [NCI2004_11_17:C3787] +is_obsolete: true + +[Term] +id: DOID:3095 +name: germ cell and embryonal cancer +def: "A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells." [url:http\://en.wikipedia.org/wiki/Germ_cell] +synonym: "germ cell and embryonal neoplasm" RELATED [] +xref: MSH:D009373 +xref: UMLS_CUI:C0027658 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:3096 +name: stenosis of lacrimal sac +synonym: "Stenosis of lacrimal sac (disorder)" EXACT [SNOMEDCT_2005_07_31:11772001] +xref: ICD10CM:H04.57 +xref: ICD10CM:H04.579 +xref: ICD9CM:375.54 +xref: SNOMEDCT_US_2015_03_01:11772001 +xref: UMLS_CUI:C0155246 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:3097 +name: stenosis and insufficiency of lacrimal passage +synonym: "Stenosis and insufficiency of lacrimal passages (disorder)" EXACT [SNOMEDCT_2005_07_31:278514000] +synonym: "Stenosis and insufficiency of lacrimal passages NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193996003] +synonym: "Stenosis of lacrimal passages" EXACT [SNOMEDCT_2005_07_31:155184002] +synonym: "Stenosis of lacrimal passages" EXACT [SNOMEDCT_2005_07_31:267739007] +is_obsolete: true + +[Term] +id: DOID:3098 +name: small cell sarcoma +xref: MSH:D018228 +xref: NCI:C3746 +xref: SNOMEDCT_US_2015_03_01:73506006 +xref: UMLS_CUI:C0206652 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:310 +name: MERRF syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Fukuhara syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:57254004] +synonym: "Myoclonic epilepsy - ragged red fibers (disorder)" EXACT [SNOMEDCT_2005_07_31:230426003] +synonym: "Myoclonus epilepsy AND ragged red fibers (disorder)" EXACT [SNOMEDCT_2005_07_31:68448003] +synonym: "Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome)" EXACT [MTHICD9_2006:277.87] +xref: ICD10CM:E88.42 +xref: MSH:D017243 +xref: NCI:C84889 +xref: OMIM:545000 +xref: SNOMEDCT_US_2015_03_01:230426003 +xref: SNOMEDCT_US_2015_03_01:57254004 +xref: SNOMEDCT_US_2015_03_01:68448003 +xref: UMLS_CUI:C0162672 +is_a: DOID:890 ! mitochondrial encephalomyopathy + +[Term] +id: DOID:3100 +name: Ureaplasma urealyticum urethritis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3101 +name: primary Mycoplasmatales infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3102 +name: cervical rib syndrome +synonym: "Arterial thoracic outlet syndrome due to cervical rib" EXACT [SNOMEDCT_2005_07_31:413577001] +is_obsolete: true + +[Term] +id: DOID:3103 +name: thoracic outlet syndrome +def: "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." [url:http\://en.wikipedia.org/wiki/Thoracic_outlet_syndrome] +synonym: "TOS - Thoracic outlet syndrome" EXACT [SNOMEDCT_2005_07_31:212769008] +xref: ICD10CM:G54.0 +xref: MSH:D013901 +xref: NCI:C85188 +xref: SNOMEDCT_US_2015_03_01:128210009 +xref: SNOMEDCT_US_2015_03_01:193106006 +xref: SNOMEDCT_US_2015_03_01:193107002 +xref: SNOMEDCT_US_2015_03_01:193108007 +xref: SNOMEDCT_US_2015_03_01:2040007 +xref: SNOMEDCT_US_2015_03_01:212769008 +xref: SNOMEDCT_US_2015_03_01:393578000 +xref: UMLS_CUI:C0039984 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:3106 +name: Nematoda infectious disease +alt_id: DOID:4190 +def: "A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." [url:http\://en.wikipedia.org/wiki/Nematode, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783] +synonym: "creeping eruption" EXACT [CSP2005:2214-2606] +synonym: "larva migrans" EXACT [] +synonym: "Nematode infection" EXACT [SNOMEDCT_2005_07_31:84706005] +synonym: "Roundworm" EXACT [SNOMEDCT_2005_07_31:271435007] +synonym: "Roundworm infection" EXACT [MTHICD9_2006:127.0] +is_obsolete: true + +[Term] +id: DOID:3107 +name: toxascariasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." [url:http\://en.wikipedia.org/wiki/Toxascaris_leonina] +xref: MSH:D017227 +xref: UMLS_CUI:C0040522 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:3108 +name: ascaridiasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." [url:http\://www.ncbi.nlm.nih.gov/pubmed/18367882] +xref: ICD10CM:B77 +xref: MSH:D001198 +xref: SNOMEDCT_US_2015_03_01:2435008 +xref: SNOMEDCT_US_2015_03_01:76160002 +xref: UMLS_CUI:C0003952 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:3109 +name: idiopathic CD4-positive T-lymphocytopenia +def: "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." [url:http\://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia] +xref: MSH:D018344 +xref: NCI:C84780 +xref: UMLS_CUI:C0206744 +is_a: DOID:614 ! lymphopenia + +[Term] +id: DOID:3110 +name: papillary cystadenocarcinoma +def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections." [url:http\://www.sciencedirect.com/science/article/pii/S1741940905000841] +synonym: "Papillary cystadenocarcinoma" EXACT [NCI2004_11_17:C3777] +synonym: "Papillary cystadenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2735009] +synonym: "Papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189687009] +xref: MSH:D018283 +xref: NCI:C3777 +xref: SNOMEDCT_US_2015_03_01:189687009 +xref: SNOMEDCT_US_2015_03_01:2735009 +xref: UMLS_CUI:C0206700 +is_a: DOID:3111 ! cystadenocarcinoma + +[Term] +id: DOID:3111 +name: cystadenocarcinoma +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed." [url:http\://en.wikipedia.org/wiki/Cystadenocarcinoma] +synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21008007] +synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189681005] +xref: MSH:D003536 +xref: NCI:C2971 +xref: SNOMEDCT_US_2015_03_01:189681005 +xref: SNOMEDCT_US_2015_03_01:21008007 +xref: UMLS_CUI:C0010631 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:3112 +name: papillary adenocarcinoma +alt_id: DOID:5596 +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue." [url:http\://en.wikipedia.org/wiki/Papillary_adenocarcinoma] +synonym: "Infiltrating and papillary adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:64524002] +synonym: "infiltrating papillary adenocarcinoma" EXACT [] +synonym: "Papillary adenocarcinoma" EXACT [NCI2004_11_17:C2853] +synonym: "Papillary adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4797003] +synonym: "Papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189621008] +xref: MSH:D000231 +xref: NCI:C2853 +xref: NCI:C7438 +xref: SNOMEDCT_US_2015_03_01:189621008 +xref: SNOMEDCT_US_2015_03_01:4797003 +xref: SNOMEDCT_US_2015_03_01:64524002 +xref: UMLS_CUI:C0001420 +xref: UMLS_CUI:C1321863 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:3113 +name: papillary carcinoma +def: "A carcinoma that is derived_from epithelial cells with finger like projections." [url:http\://breastcancer.about.com/od/types/p/papillary_ca.htm] +synonym: "Papillary carcinoma" EXACT [NCI2004_11_17:C2927] +synonym: "Papillary carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:25910003] +synonym: "Papillary carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189562005] +xref: MSH:D002291 +xref: NCI:C2927 +xref: SNOMEDCT_US_2015_03_01:189562005 +xref: SNOMEDCT_US_2015_03_01:25910003 +xref: UMLS_CUI:C0007133 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:3114 +name: serous cystadenocarcinoma +def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." [url:http\://ukpmc.ac.uk/abstract/MED/16025006] +synonym: "serous adenocarcinoma" EXACT [NCI2004_11_17:C40101] +synonym: "serous adenocarcinoma" EXACT [NCI2004_11_17:C3778] +synonym: "serous carcinoma" EXACT [SNOMEDCT_2005_07_31:90725004] +synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189685001] +xref: MSH:D018284 +xref: NCI:C3778 +xref: NCI:C40101 +xref: SNOMEDCT_US_2015_03_01:189685001 +xref: SNOMEDCT_US_2015_03_01:90725004 +xref: UMLS_CUI:C0206701 +is_a: DOID:3111 ! cystadenocarcinoma + +[Term] +id: DOID:3115 +name: urinary tract transitional cell cancer +synonym: "transitional cell neoplasm of the urinary tract" RELATED [] +is_obsolete: true + +[Term] +id: DOID:3116 +name: kidney benign neoplasm +synonym: "renal and ureteral tumor" EXACT [NCI2004_11_17:C7514] +xref: NCI:C7514 +xref: UMLS_CUI:C1334323 +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:3117 +name: hepatobiliary benign neoplasm +def: "A gastrointestinal system benign neoplasm located_in the hepatobiliary system." [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system] +synonym: "hepatobiliary tumors" EXACT [NCI2004_11_17:C8614] +xref: NCI:C8614 +xref: UMLS_CUI:C0854196 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:3118 +name: hepatobiliary disease +def: "A gastrointestinal system disease that is located_in the liver and/or biliary tract." [url:http\://en.wikipedia.org/wiki/Hepato-biliary_diseases] +synonym: "liver and biliary tract disease" EXACT [] +xref: NCI:C3959 +xref: UMLS_CUI:C0267792 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:3119 +name: gastrointestinal system cancer +alt_id: DOID:4945 +alt_id: DOID:8377 +def: "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] +subset: TopNodes_DOcancerslim +synonym: "digestive system cancer" EXACT [] +synonym: "gastrointestinal tract cancer" EXACT [NCI2004_11_17:C4890] +synonym: "GI tumor" EXACT [NCI2004_11_17:C3052] +xref: ICD10CM:C26.9 +xref: ICD9CM:239.0 +xref: MSH:D004067 +xref: MSH:D005770 +xref: NCI:C3052 +xref: NCI:C4890 +xref: SNOMEDCT_US_2015_03_01:126768004 +xref: SNOMEDCT_US_2015_03_01:128348002 +xref: SNOMEDCT_US_2015_03_01:128415001 +xref: SNOMEDCT_US_2015_03_01:189527000 +xref: SNOMEDCT_US_2015_03_01:276806006 +xref: SNOMEDCT_US_2015_03_01:367543008 +xref: SNOMEDCT_US_2015_03_01:428905002 +xref: SNOMEDCT_US_2015_03_01:93811007 +xref: UMLS_CUI:C0012243 +xref: UMLS_CUI:C0017185 +xref: UMLS_CUI:C0685938 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:312 +name: tenosynovitis of foot and ankle +xref: ICD9CM:727.06 +xref: UMLS_CUI:C0158331 +is_a: DOID:970 ! tenosynovitis + +[Term] +id: DOID:3120 +name: gallbladder papillomatosis +xref: NCI:C7130 +xref: UMLS_CUI:C1333754 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:3121 +name: gallbladder cancer +alt_id: DOID:8090 +alt_id: DOID:8157 +def: "A biliary tract cancer that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Gallbladder] +subset: TopNodes_DOcancerslim +synonym: "gallbladder Ca" EXACT [SNOMEDCT_2005_07_31:154472004] +synonym: "gallbladder neoplasm" EXACT [MTH:NOCODE] +synonym: "localized malignant gallbladder neoplasm" EXACT [NCI2004_11_17:C35676] +synonym: "malignant neoplasm of gallbladder" EXACT [] +synonym: "malignant tumor of the gallbladder" EXACT [NCI2004_11_17:C7481] +synonym: "malignant tumour of gallbladder" EXACT [SNOMEDCT_2005_07_31:254602009, SNOMEDCT_2005_07_31:93810008] +synonym: "tumor of the gallbladder" EXACT [NCI2004_11_17:C3048] +xref: ICD10CM:C23 +xref: ICD9CM:156.0 +xref: MSH:D005706 +xref: NCI:C3048 +xref: NCI:C35676 +xref: NCI:C7481 +xref: SNOMEDCT_US_2015_03_01:126854002 +xref: SNOMEDCT_US_2015_03_01:154472004 +xref: SNOMEDCT_US_2015_03_01:187782001 +xref: SNOMEDCT_US_2015_03_01:254602009 +xref: SNOMEDCT_US_2015_03_01:269550003 +xref: SNOMEDCT_US_2015_03_01:363353009 +xref: SNOMEDCT_US_2015_03_01:93810008 +xref: UMLS_CUI:C0016978 +xref: UMLS_CUI:C0153452 +xref: UMLS_CUI:C0278806 +is_a: DOID:4607 ! biliary tract cancer + +[Term] +id: DOID:3122 +name: gastric outlet obstruction +synonym: "gastric outflow obstruction" EXACT [SNOMEDCT_2005_07_31:244815007] +synonym: "gastric outflow obstruction" EXACT [SNOMEDCT_2005_07_31:196759006] +xref: MSH:D017219 +xref: SNOMEDCT_US_2015_03_01:196759006 +xref: SNOMEDCT_US_2015_03_01:244815007 +xref: UMLS_CUI:C0162651 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:3125 +name: multiple endocrine neoplasia +synonym: "MEA" EXACT [CSP2005:2009-6300] +synonym: "MEA - Multiple endocrine adenomatosis" EXACT [SNOMEDCT_2005_07_31:46724008] +synonym: "Multiple endocrine adenomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:60549007] +synonym: "Multiple endocrine adenomatosis" EXACT [SNOMEDCT_2005_07_31:190566000] +is_obsolete: true + +[Term] +id: DOID:3127 +name: proctitis +def: "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding." [url:http\://www.cdc.gov/std/Treatment/2006/proctitis.htm, url:http\://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361] +synonym: "Proctitis (disorder)" EXACT [SNOMEDCT_2005_07_31:3951002] +synonym: "Proctitis NOS" EXACT [MTHICD9_2006:569.49] +synonym: "Proctitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197229007] +xref: ICD10CM:K62.89 +xref: MSH:D011349 +xref: NCI:C38011 +xref: SNOMEDCT_US_2015_03_01:155806004 +xref: SNOMEDCT_US_2015_03_01:197229007 +xref: SNOMEDCT_US_2015_03_01:266534007 +xref: SNOMEDCT_US_2015_03_01:3951002 +xref: UMLS_CUI:C0033246 +is_a: DOID:1285 ! rectal disease + +[Term] +id: DOID:3128 +name: anus disease +alt_id: DOID:11479 +alt_id: DOID:11993 +synonym: "anal disease" EXACT [] +synonym: "anal disorder" EXACT [NCI2004_11_17:C26695] +synonym: "anal fissure" EXACT [CSP2005:1248-3799, ICD9CM_2006:565.0, SNOMEDCT_2005_07_31:155791009] +synonym: "anal fissure and fistula" EXACT [] +synonym: "anal ulcer unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197225001] +synonym: "fissure in ano" EXACT [] +synonym: "Nontraumatic tear of anus" EXACT [MTHICD9_2006:565.0] +synonym: "Solitary anal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:197224002] +synonym: "Ulcer of anus (disorder)" EXACT [SNOMEDCT_2005_07_31:20928004] +xref: MSH:D001004 +xref: NCI:C26695 +xref: SNOMEDCT_US_2015_03_01:32110003 +xref: UMLS_CUI:C0003462 +is_a: DOID:1285 ! rectal disease + +[Term] +id: DOID:313 +name: synovitis and tenosynovitis +is_obsolete: true + +[Term] +id: DOID:3132 +name: porphyria cutanea tarda +def: "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin." [url:http\://en.wikipedia.org/wiki/Porphyria_cutanea_tarda, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:E80.1 +xref: MSH:D017119 +xref: NCI:C27725 +xref: OMIM:176090 +xref: OMIM:176100 +xref: ORDO:101330 +xref: SNOMEDCT_US_2015_03_01:61860000 +xref: UMLS_CUI:C0162566 +is_a: DOID:2723 ! dermatitis +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:3133 +name: acute porphyria +def: "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis." [url:http\://emedicine.medscape.com/article/957604-overview, url:http\://en.wikipedia.org/wiki/Porphyria, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "hepatic porphyria (disorder)" EXACT [SNOMEDCT_2005_07_31:55056006] +xref: MSH:D017094 +xref: OMIM:612740 +xref: ORDO:100924 +xref: SNOMEDCT_US_2015_03_01:55056006 +xref: UMLS_CUI:C0162533 +is_a: DOID:13268 ! porphyria + +[Term] +id: DOID:3134 +name: facial dermatosis +xref: MSH:D005148 +xref: UMLS_CUI:C0015456 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3136 +name: scalp dermatosis +synonym: "Dermatosis of scalp (disorder)" EXACT [SNOMEDCT_2005_07_31:402694007] +xref: MSH:D012536 +xref: SNOMEDCT_US_2015_03_01:402694007 +xref: UMLS_CUI:C0036271 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3137 +name: multiple symmetrical lipomatosis +synonym: "Multiple symmetrical lipomatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238902007] +xref: MSH:D008069 +xref: SNOMEDCT_US_2015_03_01:238902007 +xref: SNOMEDCT_US_2015_03_01:254832003 +xref: UMLS_CUI:C0023804 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3138 +name: acanthosis nigricans +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acanthosis nigricans (disorder)" EXACT [SNOMEDCT_2005_07_31:402599005] +synonym: "AN - Acanthosis nigricans" EXACT [SNOMEDCT_2005_07_31:72129000] +synonym: "Keratosis nigricans" EXACT [MTHICD9_2006:701.2] +synonym: "keratosis nigricans" EXACT [CSP2005:2716-6089] +xref: ICD10CM:L83 +xref: MSH:D000052 +xref: NCI:C26687 +xref: OMIM:100600 +xref: OMIM:200170 +xref: SNOMEDCT_US_2015_03_01:402599005 +xref: SNOMEDCT_US_2015_03_01:72129000 +xref: UMLS_CUI:C0000889 +is_a: DOID:10123 ! pigmentation disease + +[Term] +id: DOID:314 +name: tenosynovial giant cell tumor +synonym: "fibrous histiocytoma of tendon sheath (disorder)" EXACT [SNOMEDCT_2005_07_31:310605004] +synonym: "Giant cell tumor of tendon sheath" EXACT [ICD9CM_2006:727.02] +synonym: "Giant cell tumor of Tenosynovium" EXACT [NCI2004_11_17:C3402] +xref: ICD9CM:727.02 +xref: NCI:C3402 +xref: SNOMEDCT_US_2015_03_01:128777004 +xref: SNOMEDCT_US_2015_03_01:310605004 +xref: SNOMEDCT_US_2015_03_01:71508003 +xref: SNOMEDCT_US_2015_03_01:95412009 +xref: SNOMEDCT_US_2015_03_01:95413004 +xref: UMLS_CUI:C1318543 +is_a: DOID:200 ! giant cell tumor + +[Term] +id: DOID:3140 +name: scleredema adultorum +synonym: "Buschke's scleredema" EXACT [CSP2005:2716-6810] +xref: MSH:D012592 +xref: NCI:C85057 +xref: SNOMEDCT_US_2015_03_01:72967001 +xref: SNOMEDCT_US_2015_03_01:95323007 +xref: UMLS_CUI:C0036413 +is_a: DOID:3141 ! mucinoses +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3141 +name: mucinoses +xref: MSH:D017520 +xref: SNOMEDCT_US_2015_03_01:11528001 +xref: UMLS_CUI:C0162855 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:3142 +name: leg dermatosis +xref: MSH:D007868 +xref: UMLS_CUI:C0023219 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3143 +name: eczematous skin disease +alt_id: DOID:8546 +alt_id: DOID:8547 +alt_id: DOID:8550 +alt_id: DOID:8588 +alt_id: DOID:8589 +alt_id: DOID:8657 +alt_id: DOID:8723 +alt_id: DOID:8804 +alt_id: DOID:8901 +alt_id: DOID:8908 +alt_id: DOID:9014 +alt_id: DOID:9089 +alt_id: DOID:9147 +alt_id: DOID:9236 +synonym: "Contact dermatitis and other eczema" EXACT [] +synonym: "Contact dermatitis and other eczema due to animal (cat) (dog) dander" EXACT [] +synonym: "Contact dermatitis and other eczema due to detergents" EXACT [] +synonym: "Contact dermatitis and other eczema due to drugs and medicines in contact with skin" EXACT [] +synonym: "Contact dermatitis and other eczema due to food in contact with skin" EXACT [] +synonym: "Contact dermatitis and other eczema due to oils and greases" EXACT [] +synonym: "Contact dermatitis and other eczema due to other chemical products" EXACT [] +synonym: "Contact dermatitis and other eczema due to other specified agents" EXACT [] +synonym: "Contact dermatitis and other eczema due to plants" EXACT [MTHICD9_2006:692.6] +synonym: "Contact dermatitis and other eczema due to plants [except food]" EXACT [] +synonym: "Contact dermatitis and other eczema due to solvents" EXACT [] +synonym: "Contact dermatitis and other eczema, unspecified cause" EXACT [] +synonym: "Contact dermatitis and other eczemas" EXACT [SNOMEDCT_2005_07_31:200780008] +synonym: "Contact dermatitis and other eczemas (disorder)" EXACT [SNOMEDCT_2005_07_31:267792000] +synonym: "Contact dermatitis due to cosmetics" EXACT [SNOMEDCT_2005_07_31:200868005, SNOMEDCT_2005_07_31:267795003] +synonym: "Contact dermatitis due to cosmetics (disorder)" EXACT [SNOMEDCT_2005_07_31:78755001] +synonym: "Contact dermatitis due to metal (disorder)" EXACT [SNOMEDCT_2005_07_31:78634007] +synonym: "Contact dermatitis due to metals" EXACT [SNOMEDCT_2005_07_31:200876007] +synonym: "Contact dermatitis due to metals (disorder)" EXACT [SNOMEDCT_2005_07_31:267796002] +synonym: "Contact dermatitis: metals" EXACT [SNOMEDCT_2005_07_31:267845007] +synonym: "Dermatitis due to cosmetics" EXACT [] +synonym: "Dermatitis due to metals" EXACT [] +synonym: "Dermatitis due to other radiation" EXACT [] +synonym: "Dermatitis due to other radiation NOS" EXACT [MTHICD9_2006:692.82] +is_obsolete: true + +[Term] +id: DOID:3144 +name: cutis laxa +def: "A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs." [url:http\://en.wikipedia.org/wiki/Cutis_laxa, url:http\://ghr.nlm.nih.gov/condition/cutis-laxa, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Cutis laxa" EXACT [SNOMEDCT_2005_07_31:238825007] +synonym: "Cutis laxa (disorder)" EXACT [SNOMEDCT_2005_07_31:58588007] +synonym: "loose skin" EXACT [CSP2005:2716-6258] +xref: ICD10CM:Q82.8 +xref: MSH:D003483 +xref: NCI:C84663 +xref: OMIM:123700 +xref: OMIM:219100 +xref: OMIM:219150 +xref: OMIM:219200 +xref: OMIM:612940 +xref: OMIM:613177 +xref: OMIM:614434 +xref: OMIM:614437 +xref: OMIM:614438 +xref: ORDO:209 +xref: SNOMEDCT_US_2015_03_01:238825007 +xref: SNOMEDCT_US_2015_03_01:58588007 +xref: UMLS_CUI:C0010495 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3145 +name: hyperlipoproteinemia type III +synonym: "carbohydrate induced hyperlipemia" EXACT [CSP2005:1849-4681] +synonym: "carbohydrate induced hyperlipemia" EXACT [CSP2005:1849-4738] +synonym: "familial hypercholesterolaemia with hyperlipaemia" EXACT [SNOMEDCT_2005_07_31:398796005] +synonym: "familial type 3 hyperlipoproteinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:42569002] +synonym: "Remnant hyperlipidemia" EXACT [NCI2004_11_17:C34710] +xref: MSH:D006952 +xref: NCI:C34710 +xref: SNOMEDCT_US_2015_03_01:398796005 +xref: SNOMEDCT_US_2015_03_01:42569002 +xref: UMLS_CUI:C0020479 +is_a: DOID:1168 ! familial hyperlipidemia + +[Term] +id: DOID:3146 +name: lipid metabolism disorder +def: "An inherited metabolic disorder that involves the creation and degradation of lipids." [url:http\://en.wikipedia.org/wiki/Lipid_metabolism] +synonym: "dyslipidemia" EXACT [] +synonym: "fatty acid metabolism disorder" EXACT [] +xref: MSH:D008052 +xref: UMLS_CUI:C0023772 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:3148 +name: dermal unilateral segmental cavernous angioma +synonym: "Unilateral segmental cavernous hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:254783008] +synonym: "Unilateral Segmental Cavernous hemangioma of the skin" EXACT [NCI2004_11_17:C4750] +xref: SNOMEDCT_US_2015_03_01:254783008 +xref: UMLS_CUI:C0474966 +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:3149 +name: keratoacanthoma +xref: MSH:D007636 +xref: NCI:C3146 +xref: SNOMEDCT_US_2015_03_01:156395005 +xref: SNOMEDCT_US_2015_03_01:201061007 +xref: SNOMEDCT_US_2015_03_01:201064004 +xref: SNOMEDCT_US_2015_03_01:254662007 +xref: SNOMEDCT_US_2015_03_01:267858008 +xref: SNOMEDCT_US_2015_03_01:58220003 +xref: UMLS_CUI:C0022572 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:315 +name: synovium neoplasm +synonym: "Synovial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189829008] +synonym: "Synovial neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189831004] +synonym: "tumor of Synovium" EXACT [NCI2004_11_17:C8964] +xref: NCI:C8964 +xref: SNOMEDCT_US_2015_03_01:189829008 +xref: SNOMEDCT_US_2015_03_01:189831004 +xref: UMLS_CUI:C0476203 +is_a: DOID:0060123 ! connective tissue benign neoplasm + +[Term] +id: DOID:3151 +name: skin squamous cell carcinoma +def: "A skin carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "Epidermoid skin carcinoma" EXACT [NCI2004_11_17:C4819] +synonym: "squamous cell carcinoma of skin" RELATED [] +xref: NCI:C4819 +xref: SNOMEDCT_US_2015_03_01:254651007 +xref: UMLS_CUI:C0553723 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:3153 +name: lipomatosis +synonym: "Lipomatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:402693001] +synonym: "Lipomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:37095002] +xref: ICD10CM:E88.2 +xref: MSH:D008068 +xref: SNOMEDCT_US_2015_03_01:37095002 +xref: SNOMEDCT_US_2015_03_01:402693001 +xref: UMLS_CUI:C0023801 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3156 +name: incontinentia pigmenti achromians +synonym: "Bloch-Siemans syndrome" EXACT [SNOMEDCT_2005_07_31:367520004] +synonym: "Hypomelanosis of Ito" EXACT [SNOMEDCT_2005_07_31:254202001] +synonym: "Hypomelanosis of Ito [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:254816001] +synonym: "Incontinentia pigmenti achromians syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:218358001] +synonym: "Incontinentia pigmenti syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:806001] +synonym: "Ito's nevus" EXACT [NCI2004_11_17:C7582] +synonym: "nevus of Ito (disorder)" EXACT [SNOMEDCT_2005_07_31:48543002] +xref: MSH:D010859 +xref: NCI:C7582 +xref: SNOMEDCT_US_2015_03_01:218358001 +xref: SNOMEDCT_US_2015_03_01:254202001 +xref: SNOMEDCT_US_2015_03_01:254816001 +xref: SNOMEDCT_US_2015_03_01:367520004 +xref: SNOMEDCT_US_2015_03_01:48543002 +xref: SNOMEDCT_US_2015_03_01:806001 +xref: UMLS_CUI:C0022283 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3157 +name: congenital melanocytic nevus +synonym: "Congenital melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:254203006] +synonym: "Congenital melanocytic nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:84953004] +synonym: "Congenital melanocytic nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:400151006] +synonym: "Congenital pigmented melanocytic naevus" EXACT [SNOMEDCT_2005_07_31:398696001] +synonym: "Congenital pigmented melanocytic naevus of skin" EXACT [SNOMEDCT_2005_07_31:398943008] +synonym: "Congenital Pigmented skin nevus" EXACT [NCI2004_11_17:C3944] +is_obsolete: true + +[Term] +id: DOID:3158 +name: hand dermatosis +xref: MSH:D006229 +xref: UMLS_CUI:C0018567 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3159 +name: photosensitivity disease +synonym: "Photodermatitis" EXACT [MTHICD9_2006:692.79] +synonym: "Photodermatitis" EXACT [NCI2004_11_17:C34929] +synonym: "Photodermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:22649008] +xref: MSH:D010787 +xref: SNOMEDCT_US_2015_03_01:22649008 +xref: UMLS_CUI:C0031762 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:3162 +name: malignant spindle cell melanoma +def: "A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment." [url:http\://www.skincancer.org/ask-the-expert-what-is-spindle-cell-melanoma.html] +synonym: "desmoplastic melanoma" RELATED [] +synonym: "spindle cell malignant melanoma" EXACT [NCI2004_11_17:C4237] +synonym: "spindle cell melanoma" EXACT [MTH:NOCODE] +synonym: "spindle cell melanoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189756002] +synonym: "Spitzoid malignant melanoma" EXACT [SNOMEDCT_2005_07_31:403923002] +synonym: "Spitzoid malignant melanoma" EXACT [SNOMEDCT_2005_07_31:68827007] +xref: NCI:C4237 +xref: SNOMEDCT_US_2015_03_01:189756002 +xref: SNOMEDCT_US_2015_03_01:403923002 +xref: SNOMEDCT_US_2015_03_01:68827007 +xref: UMLS_CUI:C0334444 +is_a: DOID:1909 ! melanoma + +[Term] +id: DOID:3163 +name: spindle cell cancer +def: "A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells." [url:http\://www.cancer.gov/dictionary/?CdrID=44506] +synonym: "malignant spindle cell tumor" EXACT [NCI2004_11_17:C27091] +synonym: "malignant tumor, fusiform cell type (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:88897007] +is_obsolete: true + +[Term] +id: DOID:3164 +name: Hair nevus +synonym: "Hair nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:201161009] +synonym: "Hairy naevus" EXACT [SNOMEDCT_2005_07_31:21119008] +synonym: "Hairy naevus NOS" EXACT [SNOMEDCT_2005_07_31:189748000] +synonym: "Hairy nevus NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:276499003] +synonym: "Nevoid hypertrichosis" EXACT [NCI2004_11_17:C3074] +is_obsolete: true + +[Term] +id: DOID:3165 +name: skin benign neoplasm +synonym: "neoplasm of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:126488004] +synonym: "neoplasm of skin by site" EXACT [SNOMEDCT_2005_07_31:363230005] +synonym: "skin neoplasm" EXACT [CSP2005:2020-0536] +synonym: "tumor of the skin" EXACT [NCI2004_11_17:C3372] +xref: MSH:D012878 +xref: NCI:C3372 +xref: SNOMEDCT_US_2015_03_01:126488004 +xref: SNOMEDCT_US_2015_03_01:363230005 +xref: UMLS_CUI:C0037286 +is_a: DOID:0060121 ! integumentary system benign neoplasm + +[Term] +id: DOID:3166 +name: leukemoid reaction +synonym: "LEUKEMOID REACTION" EXACT [MTH:NOCODE] +synonym: "Leukemoid reaction" EXACT [MTHICD9_2006:288.8] +synonym: "Leukemoid reaction (disorder)" EXACT [SNOMEDCT_2005_07_31:56478004] +synonym: "transient myeloproliferative disorder" RELATED [] +xref: ICD10CM:D72.823 +xref: ICD9CM:288.62 +xref: MSH:D007955 +xref: NCI:C3185 +xref: SNOMEDCT_US_2015_03_01:56478004 +xref: UMLS_CUI:C0023501 +is_a: DOID:0070004 ! myeloma + +[Term] +id: DOID:3168 +name: squamous cell neoplasm +def: "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +synonym: "Epidermoid cell tumor" EXACT [NCI2004_11_17:C3792] +synonym: "squamous cell tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134208005] +xref: MSH:D018307 +xref: NCI:C3792 +xref: SNOMEDCT_US_2015_03_01:118286007 +xref: SNOMEDCT_US_2015_03_01:134208005 +xref: SNOMEDCT_US_2015_03_01:189560002 +xref: UMLS_CUI:C0206720 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:3169 +name: papillary epithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:3171 +name: respiratory tract papilloma +synonym: "papilloma of the respiratory tract" EXACT [NCI2004_11_17:C8295] +is_obsolete: true + +[Term] +id: DOID:3172 +name: papillary adenoma +synonym: "glandular papilloma" EXACT [NCI2004_11_17:C6880] +synonym: "glandular papilloma" EXACT [SNOMEDCT_2005_07_31:86143001] +synonym: "Papillary adenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189620009] +xref: MSH:D000236 +xref: NCI:C79951 +xref: SNOMEDCT_US_2015_03_01:189620009 +xref: SNOMEDCT_US_2015_03_01:86143001 +xref: UMLS_CUI:C0205650 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:3173 +name: fallopian tube serous papilloma +xref: NCI:C40112 +xref: UMLS_CUI:C1517123 +is_a: DOID:0060111 ! fallopian tube benign neoplasm + +[Term] +id: DOID:3177 +name: verrucous papilloma +xref: NCI:C4101 +xref: SNOMEDCT_US_2015_03_01:48218007 +xref: UMLS_CUI:C0334243 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:3178 +name: skin papilloma +synonym: "Cutaneous papilloma" EXACT [NCI2004_11_17:C4614] +synonym: "cutaneous papilloma" EXACT [CSP2005:2020-2747] +synonym: "papilloma of skin" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "papilloma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:255184001] +synonym: "skin papilloma NOS" EXACT [SNOMEDCT_2005_07_31:269639005] +synonym: "skin papilloma NOS" EXACT [SNOMEDCT_2005_07_31:154613008] +xref: NCI:C4614 +xref: SNOMEDCT_US_2015_03_01:154613008 +xref: SNOMEDCT_US_2015_03_01:189051001 +xref: SNOMEDCT_US_2015_03_01:255184001 +xref: SNOMEDCT_US_2015_03_01:269639005 +xref: UMLS_CUI:C0347390 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:3179 +name: inverted papilloma +synonym: "Inverted papilloma" EXACT [NCI2004_11_17:C3793] +synonym: "Inverted papilloma, squamous cell" EXACT [SNOMEDCT_2005_07_31:90121000] +xref: MSH:D018308 +xref: NCI:C3793 +xref: SNOMEDCT_US_2015_03_01:104081000119103 +xref: UMLS_CUI:C0206721 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:318 +name: progressive muscular atrophy +synonym: "progressive spinal muscular atrophy" EXACT [CSP2005:2057-3620] +synonym: "Pure progressive muscular atrophy" EXACT [MTHICD9_2006:335.21] +xref: ICD10CM:G12.21 +xref: ICD9CM:335.21 +xref: MSH:D009134 +xref: NCI:C85027 +xref: SNOMEDCT_US_2015_03_01:88923002 +xref: UMLS_CUI:C0917981 +is_a: DOID:231 ! motor neuron disease +is_a: DOID:319 ! spinal cord disease + +[Term] +id: DOID:3181 +name: oligodendroglioma +alt_id: DOID:3182 +synonym: "oligodendroglial neoplasm" EXACT [] +synonym: "oligodendroglial tumor" EXACT [NCI2004_11_17:C6960] +xref: MSH:D009837 +xref: NCI:C6960 +xref: UMLS_CUI:C0028945 +xref: UMLS_CUI:C1335110 +is_a: DOID:3070 ! malignant glioma + +[Term] +id: DOID:3183 +name: childhood oligodendroglioma +synonym: "pediatric Oligodendroglioma" EXACT [NCI2004_11_17:C4045] +xref: MSH:D009837 +xref: NCI:C4045 +xref: UMLS_CUI:C0280475 +is_a: DOID:3181 ! oligodendroglioma + +[Term] +id: DOID:3184 +name: spinal cord oligodendroglioma +synonym: "Oligodendroglioma of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:254950006] +synonym: "Well differentiated Spinal Cord Oligodendroglioma" EXACT [NCI2004_11_17:C4535] +xref: NCI:C4535 +xref: SNOMEDCT_US_2015_03_01:254950006 +xref: UMLS_CUI:C0346295 +is_a: DOID:3185 ! spinal cord glioma + +[Term] +id: DOID:3185 +name: spinal cord glioma +def: "A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells." [url:http\://www.cancer.gov/dictionary?CdrID=45700] +synonym: "Glial neoplasm Spinal Cord" EXACT [NCI2004_11_17:C4534] +synonym: "Glial tumor of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:254946004] +synonym: "glioma of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:254947008] +xref: NCI2009_04D:C4534 +xref: SNOMEDCT_US_2015_03_01:254947008 +xref: UMLS_CUI:C0346294 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:3186 +name: adult oligodendroglioma +alt_id: DOID:7355 +synonym: "adult brain oligodendroglioma" EXACT [] +synonym: "grade II adult Oligodendroglial tumor" EXACT [NCI2004_11_17:C4014] +xref: MSH:D009837 +xref: NCI:C4014 +xref: NCI:C9376 +xref: UMLS_CUI:C0279070 +xref: UMLS_CUI:C1332190 +is_a: DOID:3181 ! oligodendroglioma + +[Term] +id: DOID:3187 +name: brain oligodendroglioma +def: "A brain glioma that has_material_basis_in oligodendrocytes." [url:http\://www.cancer.gov/dictionary?CdrID=46257] +subset: DO_cancer_slim +synonym: "brain Oligodendroglioma" EXACT [NCI2004_11_17:C9377] +synonym: "Oligodendroglioma of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:254940005] +xref: NCI:C9377 +xref: SNOMEDCT_US_2015_03_01:254940005 +xref: UMLS_CUI:C0346286 +is_a: DOID:0060108 ! brain glioma + +[Term] +id: DOID:319 +name: spinal cord disease +synonym: "myelopathy" RELATED [] +xref: ICD10CM:G95.9 +xref: ICD9CM:336.9 +xref: MSH:D013118 +xref: NCI:C97110 +xref: SNOMEDCT_US_2015_03_01:155020007 +xref: SNOMEDCT_US_2015_03_01:192908002 +xref: SNOMEDCT_US_2015_03_01:192913003 +xref: SNOMEDCT_US_2015_03_01:267587000 +xref: SNOMEDCT_US_2015_03_01:267695005 +xref: SNOMEDCT_US_2015_03_01:48522003 +xref: SNOMEDCT_US_2015_03_01:95648003 +xref: UMLS_CUI:C0037928 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:3191 +name: nemaline myopathy +def: "A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies." [url:http\://en.wikipedia.org/wiki/Nemaline_myopathy, url:http\://ghr.nlm.nih.gov/condition/nemaline-myopathy, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Nemaline body disease" EXACT [MTHICD9_2006:359.0] +synonym: "nemaline rod myopathy" EXACT [] +synonym: "rod myopathy" EXACT [] +xref: ICD10CM:G71.2 +xref: MSH:D017696 +xref: OMIM:161800 +xref: OMIM:256030 +xref: OMIM:605355 +xref: OMIM:609273 +xref: OMIM:609284 +xref: OMIM:609285 +xref: OMIM:610687 +xref: OMIM:615348 +xref: OMIM:615731 +xref: OMIM:616165 +xref: ORDO:607 +xref: SNOMEDCT_US_2015_03_01:75072002 +xref: UMLS_CUI:C0206157 +is_a: DOID:422 ! congenital structural myopathy + +[Term] +id: DOID:3192 +name: neurilemmoma +synonym: "Neurilemmoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404022001] +synonym: "Psammomatous schwannoma" EXACT [SNOMEDCT_2005_07_31:985004] +synonym: "Schwannoma" EXACT [SNOMEDCT_2005_07_31:189948006] +synonym: "schwannoma" EXACT [CSP2005:2012-6947] +synonym: "schwannoma" EXACT [NCI2004_11_17:C3269] +xref: MSH:D009442 +xref: NCI:C3269 +xref: SNOMEDCT_US_2015_03_01:189948006 +xref: SNOMEDCT_US_2015_03_01:404022001 +xref: SNOMEDCT_US_2015_03_01:985004 +xref: UMLS_CUI:C0027809 +is_a: DOID:2001 ! neuroma + +[Term] +id: DOID:3193 +name: peripheral nerve sheath neoplasm +def: "A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves." [url:http\://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor] +subset: DO_cancer_slim +synonym: "neoplasm of the nerve Sheath" EXACT [NCI2004_11_17:C4972] +synonym: "nerve sheath tumour" EXACT [SNOMEDCT_2005_07_31:189946005] +xref: MSH:D018317 +xref: UMLS_CUI:C0751689 +is_a: DOID:1192 ! peripheral nervous system neoplasm + +[Term] +id: DOID:3196 +name: cellular schwannoma +def: "A neurilemmoma with a predominantly cellular growth but no Verocay bodies." [url:http\://www.ncbi.nlm.nih.gov/pubmed/2400975] +synonym: "cellular Neurinoma" EXACT [NCI2004_11_17:C4724] +xref: NCI:C4724 +xref: SNOMEDCT_US_2015_03_01:253086004 +xref: SNOMEDCT_US_2015_03_01:404026003 +xref: SNOMEDCT_US_2015_03_01:985004 +xref: UMLS_CUI:C0431124 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3197 +name: schwannoma of twelfth cranial nerve +synonym: "Hypoglossal Schwannoma" EXACT [NCI2004_11_17:C5434] +xref: NCI:C5434 +xref: UMLS_CUI:C1335928 +is_a: DOID:3192 ! neurilemmoma +is_a: DOID:3198 ! hypoglossal nerve neoplasm + +[Term] +id: DOID:3198 +name: hypoglossal nerve neoplasm +synonym: "neoplasm of hypoglossal nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126978008] +synonym: "tumor of Hypoglossal nerve" EXACT [NCI2004_11_17:C5830] +xref: NCI:C5830 +xref: SNOMEDCT_US_2015_03_01:126978008 +xref: UMLS_CUI:C1263903 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:3199 +name: C-P angle neurinoma +synonym: "Cerebellopontine Angle Neurinoma" EXACT [NCI2004_11_17:C5413] +xref: NCI:C5413 +xref: UMLS_CUI:C1332905 +is_a: DOID:3200 ! cerebellopontine angle tumor + +[Term] +id: DOID:320 +name: vascular myelopathy +synonym: "vascular myelopathies" EXACT [ICD9CM_2006:336.1] +synonym: "vascular myelopathies" EXACT [SNOMEDCT_2005_07_31:155018009] +synonym: "vascular myelopathies (disorder)" EXACT [SNOMEDCT_2005_07_31:192896006] +synonym: "vascular myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:29774004] +synonym: "vascular myelopathy NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192903006] +xref: ICD10CM:G95.1 +xref: ICD9CM:336.1 +xref: SNOMEDCT_US_2015_03_01:155018009 +xref: SNOMEDCT_US_2015_03_01:192896006 +xref: SNOMEDCT_US_2015_03_01:192903006 +xref: SNOMEDCT_US_2015_03_01:29774004 +xref: UMLS_CUI:C0154685 +is_a: DOID:319 ! spinal cord disease + +[Term] +id: DOID:3200 +name: cerebellopontine angle tumor +synonym: "Cerebellopontine angle tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:126947009] +synonym: "neoplasm of the Cerebellopontine Angle" EXACT [NCI2004_11_17:C5414] +xref: NCI2009_04D:C5414 +is_a: DOID:4203 ! brain stem cancer + +[Term] +id: DOID:3201 +name: sympathetic neurilemmoma +xref: NCI:C5421 +xref: UMLS_CUI:C1336543 +is_a: DOID:2621 ! autonomic nervous system neoplasm +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3202 +name: neurilemmoma of the fifth cranial nerve +synonym: "Trigeminal Neurilemmoma" EXACT [NCI2004_11_17:C4655] +synonym: "Trigeminal schwannoma (disorder)" EXACT [SNOMEDCT_2005_07_31:277185000] +xref: NCI:C4655 +xref: SNOMEDCT_US_2015_03_01:277185000 +xref: UMLS_CUI:C0349582 +is_a: DOID:1201 ! trigeminal nerve neoplasm +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3203 +name: macrocystic neurilemmoma +xref: NCI:C5321 +xref: UMLS_CUI:C1334540 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3204 +name: neurilemmomatosis +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Schwannomatosis" EXACT [] +xref: ICD10CM:Q85.03 +xref: ICD9CM:237.73 +xref: MSH:C536641 +xref: NCI:C6557 +xref: OMIM:162091 +xref: OMIM:615670 +xref: UMLS_CUI:C1335929 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3205 +name: melanotic neurilemmoma +synonym: "Melanotic neurilemmoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404024000] +synonym: "Melanotic Schwannoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253088003] +synonym: "Pigmented Neurilemmoma" EXACT [NCI2004_11_17:C6970] +synonym: "Pigmented schwannoma" EXACT [SNOMEDCT_2005_07_31:985004] +xref: NCI:C6970 +xref: SNOMEDCT_US_2015_03_01:253088003 +xref: SNOMEDCT_US_2015_03_01:404024000 +xref: SNOMEDCT_US_2015_03_01:985004 +xref: UMLS_CUI:C1306247 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3206 +name: plexiform schwannoma +synonym: "Plexiform neurilemmoma" EXACT [SNOMEDCT_2005_07_31:404025004] +synonym: "Plexiform Neurinoma" EXACT [NCI2004_11_17:C6969] +synonym: "Plexiform schwannoma" EXACT [SNOMEDCT_2005_07_31:985004] +synonym: "Plexiform Schwannoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253087008] +xref: NCI:C6969 +xref: SNOMEDCT_US_2015_03_01:253087008 +xref: SNOMEDCT_US_2015_03_01:404025004 +xref: SNOMEDCT_US_2015_03_01:985004 +xref: UMLS_CUI:C1370659 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:3208 +name: sensation disorder +is_obsolete: true + +[Term] +id: DOID:3209 +name: junctional epidermolysis bullosa +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Congenital junctional epidermolysis bullosa (disorder)" EXACT [SNOMEDCT_2005_07_31:79855003] +xref: MSH:D016109 +xref: NCI:C90598 +xref: SNOMEDCT_US_2015_03_01:33662006 +xref: SNOMEDCT_US_2015_03_01:399971009 +xref: SNOMEDCT_US_2015_03_01:76905008 +xref: SNOMEDCT_US_2015_03_01:79855003 +xref: UMLS_CUI:C0079301 +is_a: DOID:2730 ! epidermolysis bullosa + +[Term] +id: DOID:321 +name: tropical spastic paraparesis +def: "A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms." [url:http\://en.wikipedia.org/wiki/Tropical_spastic_paraparesis, url:http\://www.merckmanuals.com/professional/sec16/ch224/ch224k.html] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "HTLV-associated myelopathy" EXACT [] +synonym: "Tropical spastic paralysis" EXACT [SNOMEDCT_2005_07_31:45129002] +synonym: "Tropical spastic paraplegia" EXACT [SNOMEDCT_2005_07_31:192733005] +xref: ICD10CM:G04.1 +xref: MSH:D015493 +xref: OMIM:159580 +xref: SNOMEDCT_US_2015_03_01:192733005 +xref: SNOMEDCT_US_2015_03_01:45129002 +xref: UMLS_CUI:C0030481 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:3210 +name: Pelizaeus-Merzbacher disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Leukodystrophy, sudanophilic" EXACT [MTHICD9_2006:330.0] +synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [CSP2005:1849-5479] +synonym: "Pelizaeus-Merzbacher disease (disorder)" EXACT [SNOMEDCT_2005_07_31:64855000] +xref: MSH:D020371 +xref: OMIM:312080 +xref: SNOMEDCT_US_2015_03_01:64855000 +xref: UMLS_CUI:C0205711 +is_a: DOID:10579 ! leukodystrophy + +[Term] +id: DOID:3211 +name: lysosomal storage disease +def: "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http\://en.wikipedia.org/wiki/Lysosomal_storage_disease] +synonym: "disorder of lysosomal enzyme (disorder)" EXACT [SNOMEDCT_2005_07_31:23585005] +synonym: "inborn lysosomal enzyme disorder" EXACT [CSP2005:1849-5878] +synonym: "lysosomal storage metabolism disorder" EXACT [] +xref: MSH:D016464 +xref: NCI:C61250 +xref: SNOMEDCT_US_2015_03_01:23585005 +xref: UMLS_CUI:C0085078 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:3212 +name: hereditary central nervous system demyelinating disease +is_obsolete: true + +[Term] +id: DOID:3213 +name: demyelinating disease +synonym: "demyelinating disorder" EXACT [NCI2004_11_17:C34527] +xref: MSH:D003711 +xref: NCI:C34527 +xref: UMLS_CUI:C0011303 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:3215 +name: infectious bovine rhinotracheitis +def: "A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis." [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf, url:http\://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr] +synonym: "Infectious bovine rhinotracheitis (disorder)" EXACT [SNOMEDCT_2005_07_31:68686002] +is_obsolete: true + +[Term] +id: DOID:3216 +name: jejunal somatostatinoma +synonym: "jejunal delta cell somatostatin producing tumor" EXACT [] +synonym: "Somatosatinoma of Jejunum" EXACT [NCI2004_11_17:C5787] +xref: NCI:C5787 +xref: UMLS_CUI:C1334297 +is_a: DOID:13499 ! jejunal cancer + +[Term] +id: DOID:3217 +name: small intestinal delta cell somatostatin producing tumor +is_obsolete: true + +[Term] +id: DOID:3218 +name: jejunal neoplasm +synonym: "Jejunal tumor" EXACT [NCI2004_11_17:C8401] +synonym: "neoplasm of jejunum" EXACT [SNOMEDCT_2005_07_31:126834003] +synonym: "tumor of jejunum (disorder)" EXACT [SNOMEDCT_2005_07_31:254575004] +xref: MSH:D007580 +xref: NCI:C8401 +xref: SNOMEDCT_US_2015_03_01:126834003 +xref: SNOMEDCT_US_2015_03_01:254575004 +xref: UMLS_CUI:C0022374 +is_a: DOID:7505 ! small intestine neoplasm + +[Term] +id: DOID:322 +name: myelitis +xref: MSH:D009187 +xref: NCI:C26832 +xref: SNOMEDCT_US_2015_03_01:192682002 +xref: SNOMEDCT_US_2015_03_01:267682000 +xref: SNOMEDCT_US_2015_03_01:41370002 +xref: UMLS_CUI:C0026975 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:3222 +name: causalgia +synonym: "Causalgia (disorder)" EXACT [SNOMEDCT_2005_07_31:66056001] +synonym: "Causalgia NOS" EXACT [MTHICD9_2006:355.9] +synonym: "Complex regional pain syndrome, type II (disorder)" EXACT [SNOMEDCT_2005_07_31:408751001] +xref: MSH:D002422 +xref: SNOMEDCT_US_2015_03_01:155074001 +xref: SNOMEDCT_US_2015_03_01:247397004 +xref: SNOMEDCT_US_2015_03_01:267705008 +xref: SNOMEDCT_US_2015_03_01:408751001 +xref: SNOMEDCT_US_2015_03_01:66056001 +xref: UMLS_CUI:C0007462 +is_a: DOID:3223 ! complex regional pain syndrome + +[Term] +id: DOID:3223 +name: complex regional pain syndrome +synonym: "Complex regional pain syndromes (disorder)" EXACT [SNOMEDCT_2005_07_31:128200000] +xref: MSH:D020918 +xref: SNOMEDCT_US_2015_03_01:128200000 +xref: UMLS_CUI:C0458219 +is_a: DOID:11465 ! autonomic nervous system disease + +[Term] +id: DOID:3225 +name: tracheal disease +synonym: "disorder of trachea" EXACT [SNOMEDCT_2005_07_31:47125007] +synonym: "Tracheal disorder" EXACT [NCI2004_11_17:C35079] +xref: ICD10CM:S12.8 +xref: MSH:D014133 +xref: NCI:C35079 +xref: SNOMEDCT_US_2015_03_01:47125007 +xref: UMLS_CUI:C0040580 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:3227 +name: tracheal stenosis +synonym: "Stenosis of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:11296007] +xref: MSH:D014135 +xref: NCI:C78646 +xref: SNOMEDCT_US_2015_03_01:11296007 +xref: UMLS_CUI:C0040583 +is_a: DOID:3225 ! tracheal disease + +[Term] +id: DOID:3229 +name: gastric dilatation +synonym: "stomach dilatation" EXACT [CSP2005:1248-7212] +xref: MSH:D013271 +xref: UMLS_CUI:C0038353 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:323 +name: Human T-lymphotropic virus 1 infectious disease +alt_id: DOID:2931 +def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [url:http\://emedicine.medscape.com/article/219285-overview] +synonym: "HTLV-1 infectious disease" EXACT [] +synonym: "HTLV-I infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3230 +name: high pressure neurological syndrome +xref: MSH:D006610 +xref: UMLS_CUI:C0019537 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:3231 +name: occupational disease +synonym: "occupational disorder" EXACT [CSP2005:2119-9553] +is_obsolete: true + +[Term] +id: DOID:3234 +name: central nervous system lymphoma +alt_id: DOID:3233 +def: "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system." [url:http\://www.braintumor.org/CNSLymphoma/] +synonym: "Microglioma (disorder)" EXACT [SNOMEDCT_2005_07_31:307649006] +synonym: "primary CNS lymphoma" EXACT [] +xref: ICD9CM:200.5 +xref: NCI:C9301 +xref: SNOMEDCT_US_2015_03_01:190006007 +xref: SNOMEDCT_US_2015_03_01:21964009 +xref: SNOMEDCT_US_2015_03_01:307649006 +xref: SNOMEDCT_US_2015_03_01:69110006 +xref: UMLS_CUI:C0280803 +xref: UMLS_CUI:C0742472 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:3239 +name: pigmented spindle cell nevus +alt_id: DOID:2416 +synonym: "spindle cell nevus" EXACT [] +synonym: "spindle cell nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:253038006] +synonym: "spindle cell nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:810003] +synonym: "spindle cell nevus of Reed" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3240 +name: aspiration pneumonitis +alt_id: DOID:13016 +alt_id: DOID:13506 +def: "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration." [url:http\://scalpel.stanford.edu/articles/aspiration--NEJM.pdf, url:http\://www.merck.com/mmpe/sec05/ch052/ch052f.html] +subset: NCIthesaurus +synonym: "Chemical pneumonitis" EXACT [] +synonym: "Mendelson's Syndrome" EXACT [] +synonym: "pneumonitis due to inhalation of food or vomitus" EXACT [] +synonym: "pneumonitis due to solids and liquids" EXACT [] +xref: ICD10CM:J69.0 +xref: MSH:D011015 +xref: SNOMEDCT_US_2015_03_01:422588002 +xref: SNOMEDCT_US_2015_03_01:47839005 +xref: UMLS_CUI:C0032290 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:3241 +name: lipid pneumonia +alt_id: DOID:13015 +def: "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." [url:http\://en.wikipedia.org/wiki/Lipid_pneumonia, url:http\://www.ima.org.il/imaj/ar06jan-8.pdf] +synonym: "Exogenous lipoid pneumonia" EXACT [MTHICD9_2006:507.1] +synonym: "Lipoid pneumonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:196038008] +synonym: "Lipoid pneumonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:416916004] +synonym: "Pneumonitis due to inhalation of oils (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:37629004] +synonym: "pneumonitis due to inhalation of oils and essences" EXACT [] +xref: ICD10CM:J69.1 +xref: MSH:D011017 +xref: SNOMEDCT_US_2015_03_01:196038008 +xref: SNOMEDCT_US_2015_03_01:37629004 +xref: SNOMEDCT_US_2015_03_01:416916004 +xref: SNOMEDCT_US_2015_03_01:707449006 +xref: UMLS_CUI:C0032298 +is_a: DOID:3240 ! aspiration pneumonitis + +[Term] +id: DOID:3246 +name: embryonal rhabdomyosarcoma +def: "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs." [url:http\://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1] +comment: Xref MGI. +subset: DO_MGI_slim +xref: MSH:D018233 +xref: NCI:C8971 +xref: OMIM:268210 +xref: ORDO:99757 +xref: SNOMEDCT_US_2015_03_01:14269005 +xref: SNOMEDCT_US_2015_03_01:404051002 +xref: UMLS_CUI:C0206656 +is_a: DOID:3247 ! rhabdomyosarcoma + +[Term] +id: DOID:3247 +name: rhabdomyosarcoma +def: "A skeletal muscle cancer that arise from skeletal muscle progenitors." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] +xref: MSH:D012208 +xref: NCI:C3359 +xref: SNOMEDCT_US_2015_03_01:134166003 +xref: SNOMEDCT_US_2015_03_01:302847003 +xref: SNOMEDCT_US_2015_03_01:30924005 +xref: UMLS_CUI:C0035412 +is_a: DOID:4043 ! skeletal muscle cancer + +[Term] +id: DOID:3250 +name: pleomorphic rhabdomyosarcoma +synonym: "anaplastic Rhabdomyosarcoma" EXACT [NCI2004_11_17:C4258] +synonym: "Pleomorphic rhabdomyosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404054005] +synonym: "Pleomorphic rhabdomyosarcoma, adult type" EXACT [SNOMEDCT_2005_07_31:77455004] +xref: NCI:C4258 +xref: SNOMEDCT_US_2015_03_01:404054005 +xref: SNOMEDCT_US_2015_03_01:77455004 +xref: UMLS_CUI:C0334480 +is_a: DOID:3247 ! rhabdomyosarcoma + +[Term] +id: DOID:3251 +name: prostate embryonal rhabdomyosarcoma +def: "A prostate rhabdomyosarcoma that is most common in children." [url:http\://www.google.com/search?hl=en&client=firefox-a&hs=SMK&rls=org.mozilla%3Aen-US%3Aofficial&q=rhabdomyosarcoma+of+prostate&aq=f&aqi=&aql=&oq=&gs_rfai=] +synonym: "Embryonal Rhabdomyosarcoma of the prostate" EXACT [NCI2004_11_17:C5525] +xref: NCI:C5525 +xref: UMLS_CUI:C1335508 +is_a: DOID:3252 ! prostate rhabdomyosarcoma + +[Term] +id: DOID:3252 +name: prostate rhabdomyosarcoma +def: "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate." [url:http\://emedicine.medscape.com/article/988803-overview] +synonym: "Rhabdomyosarcoma of the prostate" EXACT [NCI2004_11_17:C5522] +xref: NCI:C5522 +xref: UMLS_CUI:C1335518 +is_a: DOID:4054 ! prostate sarcoma + +[Term] +id: DOID:3253 +name: embryonal extrahepatic bile duct rhabdomyosarcoma +synonym: "Embryonal extrahepatic bile duct Rhabdomyosarcoma" EXACT [NCI2004_11_17:C5847] +xref: NCI:C5847 +xref: UMLS_CUI:C1333505 +is_a: DOID:3254 ! bile duct rhabdomyosarcoma + +[Term] +id: DOID:3254 +name: bile duct rhabdomyosarcoma +def: "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] +synonym: "rhabdomyosarcoma of the bile duct" EXACT [NCI2004_11_17:C5860] +xref: NCI:C5860 +xref: UMLS_CUI:C2064434 +is_a: DOID:4064 ! bile duct sarcoma + +[Term] +id: DOID:3255 +name: botryoid rhabdomyosarcoma +synonym: "Botryoid sarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:405943005] +synonym: "Botryoid-type Embryonal Rhabdomyosarcoma" EXACT [NCI2004_11_17:C9150] +synonym: "sarcoma botryoides" EXACT [SNOMEDCT_2005_07_31:404052009] +synonym: "sarcoma botryoides" EXACT [SNOMEDCT_2005_07_31:14269005] +xref: NCI:C9150 +xref: SNOMEDCT_US_2015_03_01:14269005 +xref: SNOMEDCT_US_2015_03_01:404052009 +xref: SNOMEDCT_US_2015_03_01:405943005 +xref: UMLS_CUI:C1306573 +is_a: DOID:3246 ! embryonal rhabdomyosarcoma + +[Term] +id: DOID:3256 +name: embryonal childhood rhabdomyosarcoma +synonym: "pediatric Embryonal Rhabdomyosarcoma" EXACT [NCI2004_11_17:C7957] +is_obsolete: true + +[Term] +id: DOID:3257 +name: pediatric rhabdomyosarcoma +is_obsolete: true + +[Term] +id: DOID:3258 +name: orbit embryonal rhabdomyosarcoma +synonym: "Embryonal Rhabdomyosarcoma of the orbit" EXACT [NCI2004_11_17:C6246] +xref: NCI:C6246 +xref: UMLS_CUI:C1335127 +is_a: DOID:3259 ! orbit rhabdomyosarcoma + +[Term] +id: DOID:3259 +name: orbit rhabdomyosarcoma +synonym: "Rhabdomyosarcoma of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:254994000] +synonym: "Rhabdomyosarcoma of the orbit" EXACT [NCI2004_11_17:C4543] +xref: MSH:C537605 +xref: NCI:C4543 +xref: SNOMEDCT_US_2015_03_01:254994000 +xref: UMLS_CUI:C0346347 +is_a: DOID:9987 ! orbit sarcoma + +[Term] +id: DOID:326 +name: ischemia +def: "A vascular disease that is characterized by a restriction in blood supply to tissues." [url:http\://en.wikipedia.org/wiki/Ischemia] +xref: MSH:D007511 +xref: NCI:C34738 +xref: SNOMEDCT_US_2015_03_01:52674009 +xref: UMLS_CUI:C0022116 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:3260 +name: spindle cell rhabdomyosarcoma +synonym: "spindle cell rhabdomyosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404055006] +synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128749008] +xref: NCI:C6519 +xref: SNOMEDCT_US_2015_03_01:128749008 +xref: SNOMEDCT_US_2015_03_01:404055006 +xref: UMLS_CUI:C1266134 +is_a: DOID:3246 ! embryonal rhabdomyosarcoma + +[Term] +id: DOID:3261 +name: Job's syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "hyperimmunoglobulin E syndrome" EXACT [SNOMEDCT_2005_07_31:191009009] +synonym: "Job syndrome" EXACT [] +xref: ICD10CM:D82.4 +xref: MSH:D007589 +xref: NCI:C3144 +xref: OMIM:147060 +xref: SNOMEDCT_US_2015_03_01:191009009 +xref: SNOMEDCT_US_2015_03_01:191351005 +xref: SNOMEDCT_US_2015_03_01:41541007 +xref: SNOMEDCT_US_2015_03_01:50926003 +xref: UMLS_CUI:C1968689 +xref: UMLS_CUI:C2936739 +is_a: DOID:2959 ! hyperimmunoglobulin syndrome + +[Term] +id: DOID:3262 +name: phagocyte bactericidal dysfunction +def: "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." [url:http\://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction] +synonym: "phagocytic dysfunction" EXACT [CSP2005:0427-7579] +xref: MSH:D010585 +xref: UMLS_CUI:C0031306 +is_a: DOID:612 ! primary immunodeficiency disease + +[Term] +id: DOID:3263 +name: piebaldism +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Partial albinism (disorder)" EXACT [SNOMEDCT_2005_07_31:6479008] +synonym: "PIEBALD TRAIT" EXACT [] +xref: ICD10CM:E70.39 +xref: MSH:D016116 +xref: NCI:C85009 +xref: OMIM:172800 +xref: SNOMEDCT_US_2015_03_01:6479008 +xref: UMLS_CUI:C0080024 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:3264 +name: subacute leukemia +def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." [url:http\://www.wrongdiagnosis.com/medical/subacute.htm] +xref: ICD9CM:208.2 +xref: SNOMEDCT_US_2015_03_01:154601003 +xref: SNOMEDCT_US_2015_03_01:188765000 +xref: SNOMEDCT_US_2015_03_01:190026006 +xref: SNOMEDCT_US_2015_03_01:302855005 +xref: SNOMEDCT_US_2015_03_01:49432002 +xref: SNOMEDCT_US_2015_03_01:95272003 +xref: UMLS_CUI:C0153924 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:3265 +name: chronic granulomatous disease +def: "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed." [url:http\://en.wikipedia.org/wiki/Chronic_granulomatous_disease, url:http\://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstractare-diseases/byID/682/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Bridges-Good syndrome" EXACT [] +synonym: "CGD" EXACT [NCI2004_11_17:C26788] +synonym: "Congenital dysphagocytosis" EXACT [MTHICD9_2006:288.1] +synonym: "Quie syndrome" EXACT [] +xref: ICD10CM:D71 +xref: MSH:D006105 +xref: NCI:C26788 +xref: OMIM:138990 +xref: OMIM:233690 +xref: OMIM:233700 +xref: OMIM:233710 +xref: OMIM:306400 +xref: OMIM:613960 +xref: ORDO:379 +xref: SNOMEDCT_US_2015_03_01:11210002 +xref: SNOMEDCT_US_2015_03_01:191352003 +xref: SNOMEDCT_US_2015_03_01:191354002 +xref: SNOMEDCT_US_2015_03_01:387759001 +xref: UMLS_CUI:C0018203 +is_a: DOID:3262 ! phagocyte bactericidal dysfunction + +[Term] +id: DOID:3267 +name: mucinous ovarian cystadenoma +synonym: "mucinous cystadenoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:119422004] +synonym: "Ovarian mucinous Cystadenoma" EXACT [NCI2004_11_17:C4512] +xref: NCI:C4512 +xref: SNOMEDCT_US_2015_03_01:119422004 +xref: UMLS_CUI:C0346172 +is_a: DOID:3269 ! ovarian cystadenoma + +[Term] +id: DOID:3269 +name: ovarian cystadenoma +synonym: "Cystoma Serosum simplex" EXACT [NCI2004_11_17:C4060] +synonym: "simple cystoma of ovary" EXACT [MTHICD9_2006:620.2] +synonym: "simple cystoma of the ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:198297004] +xref: NCI:C4060 +xref: SNOMEDCT_US_2015_03_01:198297004 +xref: UMLS_CUI:C0346169 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:327 +name: syringomyelia +xref: MSH:D013595 +xref: NCI:C85179 +xref: SNOMEDCT_US_2015_03_01:111496009 +xref: SNOMEDCT_US_2015_03_01:155020007 +xref: SNOMEDCT_US_2015_03_01:267695005 +xref: UMLS_CUI:C0039144 +is_a: DOID:319 ! spinal cord disease + +[Term] +id: DOID:3274 +name: proliferative type fibrocystic change of breast +alt_id: DOID:8101 +alt_id: DOID:8112 +synonym: "Fibrocystic change, proliferative type with atypia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35813005] +synonym: "Fibrocystic disease, Proliferative type with Atypia" EXACT [] +synonym: "Proliferating Lesion of breast without Atypia" EXACT [] +synonym: "Proliferating Lesion of the breast without Atypia" EXACT [NCI2004_11_17:C5204] +synonym: "Proliferative Fibrocystic Change" EXACT [NCI2004_11_17:C6940] +xref: NCI:C8365 +xref: SNOMEDCT_US_2015_03_01:35813005 +xref: UMLS_CUI:C0334056 +is_a: DOID:10354 ! breast fibrocystic disease + +[Term] +id: DOID:3275 +name: thymoma +def: "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus." [url:http\://cancergenome.nih.gov/cancersselected/Thymoma, url:http\://en.wikipedia.org/wiki/Thymoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] +subset: DO_cancer_slim +xref: MSH:D013945 +xref: NCI:C3411 +xref: SNOMEDCT_US_2015_03_01:128856005 +xref: SNOMEDCT_US_2015_03_01:189721001 +xref: SNOMEDCT_US_2015_03_01:444231005 +xref: UMLS_CUI:C0040100 +is_a: DOID:3277 ! thymus cancer + +[Term] +id: DOID:3276 +name: thymus epithelial cancer +synonym: "epithelial neoplasm of thymus" RELATED [] +synonym: "Thymic epithelial neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128621008] +synonym: "Thymic Epithelium neoplasm" EXACT [NCI2004_11_17:C6450] +is_obsolete: true + +[Term] +id: DOID:3277 +name: thymus cancer +alt_id: DOID:10143 +def: "An immune system cancer located_in the thymus." [url:http\://en.wikipedia.org/wiki/Thymus] +subset: TopNodes_DOcancerslim +synonym: "neoplasm of thymus (disorder)" EXACT [SNOMEDCT_2005_07_31:127231009] +synonym: "thymic neoplasm" EXACT [CSP2005:2004-8826] +synonym: "Thymic tumor" EXACT [NCI2004_11_17:C3412] +xref: ICD10CM:C37 +xref: ICD9CM:164.0 +xref: MSH:D013953 +xref: NCI:C4962 +xref: SNOMEDCT_US_2015_03_01:363434003 +xref: SNOMEDCT_US_2015_03_01:94096009 +xref: UMLS_CUI:C0751552 +is_a: DOID:0060083 ! immune system cancer + +[Term] +id: DOID:3278 +name: encapsulated thymoma +xref: NCI:C7386 +xref: UMLS_CUI:C1333383 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3279 +name: spindle cell thymoma +synonym: "Medullary Thymoma" EXACT [NCI2004_11_17:C6454] +synonym: "Thymoma, medullary" EXACT [SNOMEDCT_2005_07_31:128707003] +xref: NCI:C6454 +xref: SNOMEDCT_US_2015_03_01:128707003 +xref: UMLS_CUI:C1266091 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3280 +name: mixed type thymoma +synonym: "Thymoma, mixed type" EXACT [SNOMEDCT_2005_07_31:128709000] +xref: NCI:C6885 +xref: SNOMEDCT_US_2015_03_01:128709000 +xref: UMLS_CUI:C1266092 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3281 +name: combined thymoma +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3282 +name: dendritic cell thymoma +synonym: "epithelioid Thymoma" EXACT [NCI2004_11_17:C7114] +xref: NCI:C7114 +xref: UMLS_CUI:C1328042 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3283 +name: invasive malignant thymoma +synonym: "Infiltrating Thymoma" EXACT [NCI2004_11_17:C6453] +synonym: "Thymoma malignant Invasive" EXACT [NCI2004_11_17:C7904] +xref: NCI:C6453 +xref: NCI:C7904 +xref: UMLS_CUI:C0278846 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:3284 +name: thymic carcinoma +def: "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] +synonym: "malignant Thymoma" EXACT [NCI2004_11_17:C7612] +synonym: "Thymic carcinoma" EXACT [SNOMEDCT_2005_07_31:128717008] +synonym: "Thymoma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15949004] +xref: MSH:D013945 +xref: NCI:C7612 +xref: SNOMEDCT_US_2015_03_01:128717008 +xref: SNOMEDCT_US_2015_03_01:15949004 +xref: SNOMEDCT_US_2015_03_01:444596001 +xref: UMLS_CUI:C0205969 +is_a: DOID:3277 ! thymus cancer + +[Term] +id: DOID:3292 +name: monkeypox +def: "A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy." [url:http\://www.cdc.gov/ncidod/monkeypox/factsheet2.htm] +subset: zoonotic_infectious_disease +xref: ICD10CM:B04 +xref: ICD9CM:059.01 +xref: MSH:D045908 +xref: SNOMEDCT_US_2015_03_01:186582008 +xref: SNOMEDCT_US_2015_03_01:240466002 +xref: SNOMEDCT_US_2015_03_01:25157001 +xref: SNOMEDCT_US_2015_03_01:359811007 +xref: SNOMEDCT_US_2015_03_01:359814004 +xref: UMLS_CUI:C0276180 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:3293 +name: lumpy skin disease +def: "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf] +is_obsolete: true + +[Term] +id: DOID:3295 +name: fowlpox +def: "A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts." [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf] +is_obsolete: true + +[Term] +id: DOID:3296 +name: infectious ectromelia +def: "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." [url:http\://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg, url:http\://www.virologyj.com/content/6/1/151] +synonym: "Mousepox (disorder)" EXACT [SNOMEDCT_2005_07_31:73233006] +is_obsolete: true + +[Term] +id: DOID:3297 +name: infectious myxomatosis +def: "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." [url:http\://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false] +is_obsolete: true + +[Term] +id: DOID:3298 +name: vaccinia +def: "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches." [url:http\://en.wikipedia.org/wiki/Vaccinia, url:http\://www.bt.cdc.gov/agent/smallpox/vaccination/live-virus.asp] +xref: MSH:D014615 +xref: SNOMEDCT_US_2015_03_01:111852003 +xref: UMLS_CUI:C0042214 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:3299 +name: Yersinia pseudotuberculosis infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Pasteurella pseudotuberculosis infection" EXACT [MTHICD9_2006:027.2] +synonym: "Pseudotuberculosis" EXACT [SNOMEDCT_2005_07_31:186328008] +synonym: "Pseudotuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:36753006] +is_obsolete: true + +[Term] +id: DOID:3300 +name: Yersinia infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Yersiniosis (disorder)" EXACT [SNOMEDCT_2005_07_31:83436008] +synonym: "Yersiniosis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:240359002] +is_obsolete: true + +[Term] +id: DOID:3301 +name: gonadoblastoma +def: "A cell type benign neoplasm that is composed_of a mixture of gonadal elements." [url:http\://en.wikipedia.org/wiki/Gonadoblastoma] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D018238 +xref: NCI:C3754 +xref: OMIM:424500 +xref: SNOMEDCT_US_2015_03_01:74751003 +xref: UMLS_CUI:C0206661 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:3302 +name: chordoma +def: "A notochordal cancer that derives_from cellular remnants of the notochord." [url:http\://en.wikipedia.org/wiki/Chordoma] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "notochordoma" EXACT [CSP2005:2000-4323] +xref: MSH:D002817 +xref: NCI:C2947 +xref: OMIM:215400 +xref: SNOMEDCT_US_2015_03_01:50007008 +xref: UMLS_CUI:C0008487 +is_a: DOID:3303 ! notochordal cancer + +[Term] +id: DOID:3303 +name: notochordal cancer +def: "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord." [url:http\://en.wikipedia.org/wiki/Notochord] +synonym: "notochordal tumor" RELATED [] +xref: NCI:C7063 +xref: UMLS_CUI:C1335069 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:3304 +name: germinoma +def: "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain." [url:http\://en.wikipedia.org/wiki/Germinoma] +xref: MSH:D018237 +xref: NCI:C3753 +xref: SNOMEDCT_US_2015_03_01:154603000 +xref: SNOMEDCT_US_2015_03_01:28307001 +xref: UMLS_CUI:C0206660 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:3305 +name: teratocarcinoma +def: "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] +synonym: "mixed Embryonal carcinoma and teratoma" EXACT [NCI2004_11_17:C3756] +synonym: "Teratocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:67830002] +xref: MSH:D018243 +xref: NCI:C3756 +xref: SNOMEDCT_US_2015_03_01:67830002 +xref: UMLS_CUI:C0206664 +is_a: DOID:3095 ! germ cell and embryonal cancer +is_a: DOID:3306 ! mixed germ cell cancer + +[Term] +id: DOID:3306 +name: mixed germ cell cancer +def: "A germ cell cancer that occurs in many forms." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] +synonym: "mixed germ cell neoplasm" EXACT [NCI2004_11_17:C4290] +synonym: "mixed germ cell tumour" EXACT [SNOMEDCT_2005_07_31:189853002] +synonym: "mixed teratoma and Seminoma" EXACT [NCI2004_11_17:C9010] +synonym: "mixed teratoma and seminoma" EXACT [SNOMEDCT_2005_07_31:32844007] +xref: NCI:C4290 +xref: NCI:C9010 +xref: SNOMEDCT_US_2015_03_01:189853002 +xref: SNOMEDCT_US_2015_03_01:32844007 +xref: UMLS_CUI:C0334524 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:3307 +name: teratoma +def: "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." [url:http\://en.wikipedia.org/wiki/Teratoma] +synonym: "Teratomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189844009] +xref: MSH:D013724 +xref: NCI:C3403 +xref: SNOMEDCT_US_2015_03_01:189844009 +xref: SNOMEDCT_US_2015_03_01:189846006 +xref: SNOMEDCT_US_2015_03_01:189848007 +xref: SNOMEDCT_US_2015_03_01:55818009 +xref: UMLS_CUI:C0039538 +is_a: DOID:3095 ! germ cell and embryonal cancer + +[Term] +id: DOID:3308 +name: embryonal carcinoma +alt_id: DOID:5676 +def: "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma] +synonym: "primary extragonadal embryonal carcinoma" EXACT [] +xref: MSH:D018236 +xref: NCI:C3752 +xref: NCI:C8880 +xref: SNOMEDCT_US_2015_03_01:189843003 +xref: SNOMEDCT_US_2015_03_01:28047004 +xref: UMLS_CUI:C0206659 +xref: UMLS_CUI:C0855159 +is_a: DOID:688 ! embryonal cancer + +[Term] +id: DOID:3309 +name: neurodermatitis +xref: MSH:D009450 +xref: NCI:C111963 +xref: SNOMEDCT_US_2015_03_01:156383005 +xref: SNOMEDCT_US_2015_03_01:267854005 +xref: UMLS_CUI:C0027822 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:331 +name: central nervous system disease +def: "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system." [url:http\://en.wikipedia.org/wiki/Central_nervous_system_disease] +xref: ICD10CM:G96.9 +xref: MSH:D002493 +xref: NCI:C2934 +xref: SNOMEDCT_US_2015_03_01:138748005 +xref: SNOMEDCT_US_2015_03_01:154981003 +xref: SNOMEDCT_US_2015_03_01:155049004 +xref: SNOMEDCT_US_2015_03_01:155059003 +xref: SNOMEDCT_US_2015_03_01:192641002 +xref: SNOMEDCT_US_2015_03_01:193076009 +xref: SNOMEDCT_US_2015_03_01:194566008 +xref: SNOMEDCT_US_2015_03_01:23853001 +xref: SNOMEDCT_US_2015_03_01:267144009 +xref: SNOMEDCT_US_2015_03_01:267679005 +xref: SNOMEDCT_US_2015_03_01:267700003 +xref: SNOMEDCT_US_2015_03_01:267702006 +xref: SNOMEDCT_US_2015_03_01:275539005 +xref: UMLS_CUI:C0007682 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:3310 +name: atopic dermatitis +def: "A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Atopic_dermatitis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Allergic (intrinsic) eczema (disorder)" EXACT [SNOMEDCT_2005_07_31:200772001] +synonym: "allergic dermatitis" EXACT [CSP2005:2716-6989] +synonym: "allergic dermatitis" EXACT [CSP2005:2716-6917] +synonym: "Atopic dermatitis" EXACT [SNOMEDCT_2005_07_31:156331003] +synonym: "Atopic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:24079001] +synonym: "Atopic dermatitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200779005] +synonym: "atopic eczema" EXACT [] +synonym: "Atopic neurodermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:200775004] +synonym: "Besnier's prurigo" EXACT [MTHICD9_2006:691.8] +synonym: "Besnier's prurigo (disorder)" EXACT [SNOMEDCT_2005_07_31:200773006] +xref: EFO:0000274 +xref: ICD10CM:L20 +xref: ICD10CM:L20.81 +xref: ICD10CM:L20.9 +xref: MSH:D003876 +xref: OMIM:603165 +xref: OMIM:605803 +xref: OMIM:605804 +xref: OMIM:605805 +xref: OMIM:605844 +xref: OMIM:605845 +xref: OMIM:613064 +xref: OMIM:613518 +xref: OMIM:613519 +xref: SNOMEDCT_US_2015_03_01:156331003 +xref: SNOMEDCT_US_2015_03_01:200772001 +xref: SNOMEDCT_US_2015_03_01:200775004 +xref: SNOMEDCT_US_2015_03_01:200779005 +xref: SNOMEDCT_US_2015_03_01:24079001 +xref: UMLS_CUI:C0011615 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:3312 +name: bipolar disorder +alt_id: DOID:3311 +alt_id: DOID:9554 +alt_id: DOID:9555 +def: "A mood disorder that involves alternating periods of mania and depression." [url:http\://en.wikipedia.org/wiki/Mood_disorder] +synonym: "bipolar depression" EXACT [CSP2005:2483-6684] +synonym: "bipolar disorder manic phase" EXACT [CSP2005:2483-6691] +synonym: "Depressive-manic psych." RELATED [SNOMEDCT_2005_07_31:154871001] +synonym: "Manic Bipolar Affective disorder" EXACT [NCI2004_11_17:C34805] +synonym: "Manic bipolar I disorder" EXACT [SNOMEDCT_2005_07_31:68569003] +synonym: "manic depression" EXACT [] +synonym: "Manic Depressive disorder" EXACT [NCI2004_11_17:C34423] +synonym: "manic disorder" EXACT [] +synonym: "mixed bipolar disorder" EXACT [] +xref: EFO:0000289 +xref: ICD10CM:F31 +xref: ICD10CM:F31.9 +xref: ICD9CM:296.40 +xref: ICD9CM:296.60 +xref: ICD9CM:296.80 +xref: MSH:D001714 +xref: NCI:C34423 +xref: NCI:C34424 +xref: NCI:C34805 +xref: SNOMEDCT_US_2015_03_01:13746004 +xref: SNOMEDCT_US_2015_03_01:154871001 +xref: SNOMEDCT_US_2015_03_01:16506000 +xref: SNOMEDCT_US_2015_03_01:191627008 +xref: SNOMEDCT_US_2015_03_01:191646009 +xref: SNOMEDCT_US_2015_03_01:191647000 +xref: SNOMEDCT_US_2015_03_01:191654006 +xref: SNOMEDCT_US_2015_03_01:192355004 +xref: SNOMEDCT_US_2015_03_01:192365005 +xref: SNOMEDCT_US_2015_03_01:268749008 +xref: SNOMEDCT_US_2015_03_01:68569003 +xref: UMLS_CUI:C0005586 +xref: UMLS_CUI:C0005587 +xref: UMLS_CUI:C0024713 +xref: UMLS_CUI:C0236780 +is_a: DOID:3324 ! mood disorder + +[Term] +id: DOID:3314 +name: angiomyolipoma +def: "A cell type benign neoplasm that from perivascular epithelioid cells." [url:http\://en.wikipedia.org/wiki/Angiomyolipoma, url:http\:www.rsroc.org.tw/db/ejournal/article/V33/N4/330405.pdf] +synonym: "Angiomyolipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:19929002] +xref: MSH:D018207 +xref: NCI:C3734 +xref: SNOMEDCT_US_2015_03_01:19929002 +xref: UMLS_CUI:C0206633 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:3315 +name: lipoma +alt_id: DOID:3154 +alt_id: DOID:9291 +def: "A cell type benign neoplasm that is composed of lipocytes." [url:http\://en.wikipedia.org/wiki/Benign_tumor] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign lipomatous tumor" EXACT [] +synonym: "benign tumor of Adipose tissue" EXACT [NCI2004_11_17:C4502] +synonym: "LIPOMATOSIS, FAMILIAL MULTIPLE" EXACT [] +synonym: "Lipomatous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115227001] +synonym: "Lipomatous tumor" EXACT [NCI2004_11_17:C4248] +synonym: "multiple lipomatosis" EXACT [] +synonym: "tumor of adipose tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:254831005] +xref: ICD10CM:D17 +xref: ICD10CM:D17.9 +xref: ICD9CM:214 +xref: ICD9CM:214.9 +xref: MSH:D008067 +xref: MSH:D018205 +xref: NCI:C3192 +xref: NCI:C4248 +xref: NCI:C4502 +xref: OMIM:151900 +xref: SNOMEDCT_US_2015_03_01:115227001 +xref: SNOMEDCT_US_2015_03_01:154612003 +xref: SNOMEDCT_US_2015_03_01:189018005 +xref: SNOMEDCT_US_2015_03_01:189776008 +xref: SNOMEDCT_US_2015_03_01:189785008 +xref: SNOMEDCT_US_2015_03_01:254827004 +xref: SNOMEDCT_US_2015_03_01:254830006 +xref: SNOMEDCT_US_2015_03_01:254831005 +xref: SNOMEDCT_US_2015_03_01:46720004 +xref: SNOMEDCT_US_2015_03_01:93163002 +xref: UMLS_CUI:C0023798 +xref: UMLS_CUI:C0206631 +xref: UMLS_CUI:C0346118 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:3316 +name: perivascular tumor +alt_id: DOID:5234 +synonym: "malignant perivascular cancer" EXACT [] +xref: NCI:C6528 +xref: NCI:C6530 +xref: UMLS_CUI:C1334611 +xref: UMLS_CUI:C1335392 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:3317 +name: hepatic angiomyolipoma +xref: NCI:C27485 +xref: UMLS_CUI:C1333962 +is_a: DOID:916 ! liver neoplasm + +[Term] +id: DOID:3318 +name: epithelioid type angiomyolipoma +xref: NCI:C38151 +xref: UMLS_CUI:C1333426 +is_a: DOID:3314 ! angiomyolipoma + +[Term] +id: DOID:3319 +name: lymphangioleiomyomatosis +alt_id: DOID:3682 +synonym: "lung lymphangioleiomyomatosis" EXACT [] +synonym: "Lymphangiomyomatosis" EXACT [NCI2004_11_17:C3725] +synonym: "lymphangiomyomatosis" EXACT [CSP2005:4009-0064] +synonym: "Lymphangiomyomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:73017001] +synonym: "pulmonary lymphangioleiomyomatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:277844007] +xref: NCI:C38153 +xref: SNOMEDCT_US_2015_03_01:277844007 +xref: UMLS_CUI:C0349649 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:332 +name: amyotrophic lateral sclerosis +def: "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm] +subset: DO_MGI_slim +synonym: "ALS" EXACT [NCI2004_11_17:C34373] +synonym: "Lou Gehrig's disease" EXACT [] +synonym: "motor neuron disease, bulbar" EXACT [MTHICD9_2006:335.20] +xref: EFO:0000253 +xref: ICD10CM:G12.21 +xref: ICD9CM:335.20 +xref: KEGG:05014 +xref: MSH:D000690 +xref: NCI:C34373 +xref: OMIM:105400 +xref: OMIM:205100 +xref: OMIM:205200 +xref: OMIM:602433 +xref: OMIM:608030 +xref: OMIM:611895 +xref: OMIM:612069 +xref: OMIM:612577 +xref: OMIM:613435 +xref: SNOMEDCT_US_2015_03_01:86044005 +xref: UMLS_CUI:C0002736 +is_a: DOID:231 ! motor neuron disease + +[Term] +id: DOID:3320 +name: Tay-Sachs disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1] +synonym: "hexosaminidase A deficiency" EXACT [CSP2005:1849-8690] +synonym: "Tay-Sachs disease (disorder)" EXACT [SNOMEDCT_2005_07_31:111385000] +xref: ICD10CM:E75.02 +xref: MSH:D013661 +xref: NCI:C85184 +xref: OMIM:272800 +xref: SNOMEDCT_US_2015_03_01:111385000 +xref: UMLS_CUI:C0039373 +is_a: DOID:3321 ! gangliosidosis GM2 + +[Term] +id: DOID:3321 +name: gangliosidosis GM2 +synonym: "GM>2< gangliosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:33316007] +xref: ICD10CM:E75.0 +xref: ICD10CM:E75.00 +xref: MSH:D020143 +xref: SNOMEDCT_US_2015_03_01:33316007 +xref: UMLS_CUI:C0268274 +is_a: DOID:2368 ! gangliosidosis + +[Term] +id: DOID:3322 +name: gangliosidosis GM1 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Beta-galactosidase deficiency" EXACT [SNOMEDCT_2005_07_31:238044004] +synonym: "beta-Galactosidase deficiency" EXACT [SNOMEDCT_2005_07_31:33164006] +synonym: "deficiency of beta-galactosidase (disorder)" EXACT [SNOMEDCT_2005_07_31:124465002] +synonym: "GM1 gangliosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238025006] +synonym: "GM>1< gangliosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:32917001] +synonym: "Landing syndrome" EXACT [CSP2005:1849-8633] +xref: ICD10CM:E75.19 +xref: MSH:D016537 +xref: NCI:C84739 +xref: OMIM:230500 +xref: OMIM:230600 +xref: OMIM:230650 +xref: SNOMEDCT_US_2015_03_01:238025006 +xref: SNOMEDCT_US_2015_03_01:32917001 +xref: UMLS_CUI:C0085131 +is_a: DOID:2368 ! gangliosidosis + +[Term] +id: DOID:3323 +name: Sandhoff disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Sandhoff disease (disorder)" EXACT [SNOMEDCT_2005_07_31:23849003] +synonym: "Sandhoff Jatzkewitz disease" EXACT [CSP2005:1849-8747] +xref: ICD10CM:E75.01 +xref: MSH:D012497 +xref: NCI:C85052 +xref: OMIM:268800 +xref: SNOMEDCT_US_2015_03_01:23849003 +xref: UMLS_CUI:C0036161 +is_a: DOID:3321 ! gangliosidosis GM2 + +[Term] +id: DOID:3324 +name: mood disorder +def: "A cognitive disorder that involves an excessive, irrational dread of everyday situations." [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml] +comment: Updating outdated UMLS CUI. +synonym: "episodic mood disorder" EXACT [] +xref: EFO:0004247 +xref: ICD10CM:F30-F39 +xref: ICD10CM:F39 +xref: MSH:D019964 +xref: NCI:C92200 +xref: SNOMEDCT_US_2015_03_01:192348001 +xref: SNOMEDCT_US_2015_03_01:192391006 +xref: SNOMEDCT_US_2015_03_01:268713007 +xref: SNOMEDCT_US_2015_03_01:46206005 +xref: SNOMEDCT_US_2015_03_01:74421008 +xref: UMLS_CUI:C0525045 +is_a: DOID:1561 ! cognitive disorder + +[Term] +id: DOID:3325 +name: hyperglobulinemic purpura +synonym: "hyperglobulinemic purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:402852007] +xref: MSH:D011694 +xref: SNOMEDCT_US_2015_03_01:402852007 +xref: UMLS_CUI:C0034151 +is_a: DOID:3326 ! purpura + +[Term] +id: DOID:3326 +name: purpura +synonym: "Purpuric disorder" EXACT [SNOMEDCT_2005_07_31:387778001] +xref: ICD10CM:D69.2 +xref: MSH:D011693 +xref: NCI:C78787 +xref: SNOMEDCT_US_2015_03_01:118653003 +xref: SNOMEDCT_US_2015_03_01:12393003 +xref: SNOMEDCT_US_2015_03_01:154822006 +xref: SNOMEDCT_US_2015_03_01:191313005 +xref: SNOMEDCT_US_2015_03_01:246989006 +xref: SNOMEDCT_US_2015_03_01:267564008 +xref: SNOMEDCT_US_2015_03_01:387778001 +xref: SNOMEDCT_US_2015_03_01:423902002 +xref: UMLS_CUI:C0034150 +is_a: DOID:2213 ! hemorrhagic disease + +[Term] +id: DOID:3327 +name: partial motor epilepsy +synonym: "epilepsy, focal motor NOS" EXACT [MTHICD9_2006:345.5] +synonym: "Focal motor seizure (disorder)" EXACT [SNOMEDCT_2005_07_31:128612007] +synonym: "Focal motor seizure, NOS" EXACT [SNOMEDCT_2005_07_31:67139004] +xref: MSH:D020938 +xref: NCI:C50847 +xref: SNOMEDCT_US_2015_03_01:128612007 +xref: SNOMEDCT_US_2015_03_01:67139004 +xref: SNOMEDCT_US_2015_03_01:82401000 +xref: UMLS_CUI:C0016399 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:3328 +name: temporal lobe epilepsy +synonym: "epilepsy, temporal lobe" EXACT [MTHICD9_2006:345.4] +xref: MSH:D004833 +xref: SNOMEDCT_US_2015_03_01:155040000 +xref: SNOMEDCT_US_2015_03_01:193000002 +xref: SNOMEDCT_US_2015_03_01:84340007 +xref: UMLS_CUI:C0014556 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:3329 +name: benign epilepsy with centrotemporal spikes +synonym: "BCECTS" EXACT [] +synonym: "benign childhood epilepsy with centrotemporal spike" EXACT [SNOMEDCT_2005_07_31:193024005] +synonym: "benign Rolandic epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:44145005] +synonym: "rolandic epilepsy" EXACT [] +synonym: "sylvan seizures " EXACT [] +xref: MSH:D019305 +xref: SNOMEDCT_US_2015_03_01:193024005 +xref: UMLS_CUI:C0376532 +is_a: DOID:0050704 ! childhood electroclinical syndrome + +[Term] +id: DOID:333 +name: chronic factitious illness with physical symptoms +is_obsolete: true + +[Term] +id: DOID:3330 +name: partial sensory epilepsy +xref: MSH:D020937 +xref: UMLS_CUI:C0752322 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:3331 +name: frontal lobe epilepsy +synonym: "Frontal lobe epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:230394006] +xref: MSH:D017034 +xref: SNOMEDCT_US_2015_03_01:230394006 +xref: UMLS_CUI:C0085541 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:3332 +name: haemonchiasis +def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." [url:http\://en.wikipedia.org/wiki/Haemonchus_contortus] +xref: MSH:D006188 +xref: UMLS_CUI:C0018477 +is_a: DOID:1255 ! trichostrongyloidiasis + +[Term] +id: DOID:334 +name: histrionic personality disorder +def: "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood." [url:http\://en.wikipedia.org/wiki/Histrionic_personality_disorder] +xref: ICD10CM:F60.4 +xref: ICD9CM:301.5 +xref: ICD9CM:301.50 +xref: MSH:D006677 +xref: NCI:C92634 +xref: SNOMEDCT_US_2015_03_01:154900000 +xref: SNOMEDCT_US_2015_03_01:191764009 +xref: SNOMEDCT_US_2015_03_01:191767002 +xref: SNOMEDCT_US_2015_03_01:192489002 +xref: SNOMEDCT_US_2015_03_01:268758001 +xref: SNOMEDCT_US_2015_03_01:55341008 +xref: UMLS_CUI:C0019681 +is_a: DOID:1510 ! personality disorder + +[Term] +id: DOID:3340 +name: lymphangioendothelioma +synonym: "lymphangioendothelioma" EXACT [CSP2005:2004-0139] +synonym: "Lymphangioendothelioma, NOS" EXACT [SNOMEDCT_2005_07_31:69044001] +is_obsolete: true + +[Term] +id: DOID:3341 +name: osteitis fibrosa +def: "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." [url:http\://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001252.htm, url:http\://www.umm.edu/ency/article/001252.htm] +synonym: "hyperparathyroid bone disease" EXACT [SNOMEDCT_2005_07_31:190453002] +synonym: "Osteitis fibrosa cystica generalisata (disorder)" EXACT [SNOMEDCT_2005_07_31:84727000] +synonym: "Von Recklinghausen's bone disease" EXACT [SNOMEDCT_2005_07_31:190451000] +xref: MSH:D010002 +xref: NCI:C34875 +xref: SNOMEDCT_US_2015_03_01:190451000 +xref: SNOMEDCT_US_2015_03_01:190453002 +xref: SNOMEDCT_US_2015_03_01:84727000 +xref: UMLS_CUI:C0029405 +is_a: DOID:0080011 ! bone resorption disease + +[Term] +id: DOID:3342 +name: bone inflammation disease +def: "A bone disease that results_in inflammation of the located_in bone." [url:http\://en.wikipedia.org/wiki/Osteitis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteitis.aspx, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis] +synonym: "bone inflammatory disease" EXACT [SNOMEDCT_2005_07_31:156780005] +synonym: "Inflammatory disorder of bone" EXACT [SNOMEDCT_2005_07_31:363172002] +synonym: "osteitis" EXACT [CSP2005:2715-2703] +xref: MSH:D010000 +xref: SNOMEDCT_US_2015_03_01:156780005 +xref: SNOMEDCT_US_2015_03_01:274144001 +xref: SNOMEDCT_US_2015_03_01:363172002 +xref: SNOMEDCT_US_2015_03_01:44462005 +xref: UMLS_CUI:C0029400 +is_a: DOID:0080001 ! bone disease + +[Term] +id: DOID:3343 +name: glycoproteinosis +def: "A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)." [url:http\://en.wikipedia.org/wiki/Sialidosis, url:https\://en.wikipedia.org/wiki/Glycoproteinosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract] +comment: OMIM mapping submitted by NeuroDevNet. [LS]. +synonym: "Mucolipidosis type I" EXACT [] +synonym: "sialidosis" EXACT [] +xref: ICD10:E77.1 +xref: MSH:D009081 +xref: NCI:C61267 +xref: OMIM:256550 +xref: SNOMEDCT_US_2015_03_01:70528007 +xref: UMLS_CUI:C0026697 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:3345 +name: xanthomatosis +def: "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts." [url:http\://en.wikipedia.org/wiki/Xanthoma] +synonym: "xanthelasmatosis" EXACT [CSP2005:1746-8555] +xref: MSH:D014973 +xref: SNOMEDCT_US_2015_03_01:63103006 +xref: UMLS_CUI:C0043325 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:3347 +name: osteosarcoma +alt_id: DOID:183 +def: "A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin." [url:http\://en.wikipedia.org/wiki/Osteosarcoma, url:http\://www.cancer.gov/dictionary?cdrid=45395] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "bone tissue neoplasm" EXACT [] +synonym: "Osteogenic sarcoma" EXACT [NCI2004_11_17:C9145] +synonym: "osteoid sarcoma" EXACT [CSP2005:2019-1578] +synonym: "Skeletal sarcoma" EXACT [NCI2004_11_17:C9312] +xref: MSH:D012516 +xref: MSH:D018213 +xref: NCI:C9145 +xref: OMIM:259500 +xref: SNOMEDCT_US_2015_03_01:189878003 +xref: SNOMEDCT_US_2015_03_01:21708004 +xref: SNOMEDCT_US_2015_03_01:307576001 +xref: SNOMEDCT_US_2015_03_01:408387006 +xref: UMLS_CUI:C0029463 +xref: UMLS_CUI:C0206639 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:3349 +name: osteogenic neoplasm +synonym: "Osteogenic tumor" EXACT [NCI2004_11_17:C6603] +is_obsolete: true + +[Term] +id: DOID:3350 +name: mesenchymal cell neoplasm +alt_id: DOID:1630 +def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system." [url:http\://en.wikipedia.org/wiki/Mesenchymal_cell, url:http\://www.ncbi.nlm.nih.gov/books/NBK9549/] +synonym: "benign miscellaneous mesenchymal tumor" EXACT [] +synonym: "mesenchymal tumor" EXACT [NCI2004_11_17:C7059] +xref: NCI:C6587 +xref: NCI:C7059 +xref: UMLS_CUI:C1332517 +xref: UMLS_CUI:C1334699 +is_a: DOID:0050687 ! cell type cancer + +[Term] +id: DOID:3351 +name: bone angioendothelial sarcoma +synonym: "osseous hemangiosarcoma" EXACT [NCI2004_11_17:C6479] +xref: NCI:C6479 +xref: UMLS_CUI:C1332574 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3352 +name: malignant fibrous histiocytoma of bone +synonym: "malignant fibrous Histiocytoma of the bone" EXACT [NCI2004_11_17:C8563] +xref: NCI:C8563 +xref: UMLS_CUI:C0740479 +is_a: DOID:1907 ! malignant fibroxanthoma +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3354 +name: fibrosarcoma of bone +synonym: "Fibrosarcoma of the bone" EXACT [NCI2004_11_17:C6604] +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3355 +name: fibrosarcoma +alt_id: DOID:156 +alt_id: DOID:3509 +def: "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] +synonym: "Fibrocytic tumor" EXACT [NCI2004_11_17:C7075] +synonym: "fibrosarcoma of soft tissue" EXACT [] +synonym: "fibrous tissue neoplasm" EXACT [] +xref: MSH:D005354 +xref: MSH:D018218 +xref: NCI:C3043 +xref: NCI:C6605 +xref: NCI:C7075 +xref: SNOMEDCT_US_2015_03_01:443250000 +xref: SNOMEDCT_US_2015_03_01:53654007 +xref: UMLS_CUI:C0016057 +xref: UMLS_CUI:C0206643 +xref: UMLS_CUI:C1336021 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:3356 +name: localized osteosarcoma +synonym: "localized Osteogenic sarcoma" EXACT [NCI2004_11_17:C7780] +xref: NCI:C7780 +xref: UMLS_CUI:C0278511 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3357 +name: extraosseous osteosarcoma +synonym: "extraskeletal Osteogenic sarcoma" EXACT [NCI2004_11_17:C8810] +synonym: "extraskeletal osteosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404077005] +xref: NCI:C8810 +xref: SNOMEDCT_US_2015_03_01:404077005 +xref: UMLS_CUI:C0855052 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3359 +name: malignant extraskeletal cartilaginous and osseous tumor +is_obsolete: true + +[Term] +id: DOID:336 +name: non-traumatic tendon rupture +alt_id: DOID:13772 +alt_id: DOID:14160 +alt_id: DOID:14337 +alt_id: DOID:9887 +synonym: "Nontraumatic rupture of extensor tendons of hand and wrist" EXACT [] +synonym: "Nontraumatic rupture of flexor tendons of hand and wrist" EXACT [] +synonym: "Nontraumatic rupture of quadriceps tendon" EXACT [] +synonym: "Nontraumatic rupture of tendons of biceps" EXACT [MTHICD9_2006:727.62] +synonym: "Nontraumatic rupture of tendons of biceps (long head)" EXACT [ICD9CM_2006:727.62] +synonym: "Nontraumatic rupture of tendons of biceps, long head" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3360 +name: multifocal osteogenic sarcoma +xref: NCI:C6470 +xref: SNOMEDCT_US_2015_03_01:431371000124105 +xref: UMLS_CUI:C1334820 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3361 +name: pediatric osteosarcoma +xref: NCI:C6585 +xref: UMLS_CUI:C1332986 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3362 +name: coronary aneurysm +synonym: "Aneurysm of coronary vessels" EXACT [ICD9CM_2006:414.11] +synonym: "Aneurysmal lesion of coronary artery" EXACT [SNOMEDCT_2005_07_31:50570003] +synonym: "Aneurysmal lesion of coronary artery" EXACT [SNOMEDCT_2005_07_31:373139003] +synonym: "Arteriovenous aneurysm of coronary vessels" EXACT [MTHICD9_2006:414.11] +xref: ICD10CM:I25.41 +xref: ICD9CM:414.11 +xref: MSH:D003323 +xref: SNOMEDCT_US_2015_03_01:373139003 +xref: SNOMEDCT_US_2015_03_01:50570003 +xref: UMLS_CUI:C0010051 +is_a: DOID:9768 ! heart aneurysm + +[Term] +id: DOID:3365 +name: recurrent osteosarcoma +synonym: "relapsed Osteosarcoma" EXACT [NCI2004_11_17:C7881] +is_obsolete: true + +[Term] +id: DOID:3367 +name: bone leiomyosarcoma +xref: NCI:C7154 +xref: UMLS_CUI:C1332579 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3368 +name: bone Ewing's sarcoma +alt_id: DOID:4984 +alt_id: DOID:6392 +def: "A peripheral primitive neuroectodermal tumor that is located_in bone." [url:http\://en.wikipedia.org/wiki/Ewing%27s_sarcoma] +subset: DO_cancer_slim +synonym: "bone Ewing sarcoma" EXACT [] +synonym: "bone Ewing's sarcoma" RELATED [] +synonym: "bone localized Ewing sarcoma" EXACT [] +synonym: "bone localized Ewing's sarcoma" EXACT [] +synonym: "Ewing's sarcoma of bone (disorder)" RELATED [SNOMEDCT_2005_07_31:307608006] +synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [] +synonym: "localized Skeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C6623] +synonym: "Skeletal Ewing's tumor" RELATED [NCI2004_11_17:C4835] +xref: NCI:C35871 +xref: NCI:C4835 +xref: NCI:C6623 +xref: SNOMEDCT_US_2015_03_01:307608006 +xref: UMLS_CUI:C0585474 +xref: UMLS_CUI:C1333481 +xref: UMLS_CUI:C1334406 +is_a: DOID:3369 ! peripheral primitive neuroectodermal tumor + +[Term] +id: DOID:3369 +name: peripheral primitive neuroectodermal tumor +alt_id: DOID:0050607 +alt_id: DOID:4158 +alt_id: DOID:4390 +alt_id: DOID:4391 +alt_id: DOID:4392 +alt_id: DOID:4980 +def: "A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm." [url:http\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor, url:http\://www.cancer.gov/dictionary?cdrid=383924] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Ewing sarcoma" EXACT [] +synonym: "Ewing's family localized tumor" EXACT [] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCI2004_11_17:C27291] +synonym: "Ewing's tumor" EXACT [NCI2004_11_17:C4817] +synonym: "Ewing's tumor" EXACT [CSP2005:2008-4746] +synonym: "Ewings sarcoma" EXACT [] +synonym: "Ewings sarcoma-primitive neuroectodermal tumor" EXACT [] +synonym: "localized Ewing sarcoma" EXACT [] +synonym: "localized Ewing's sarcoma" EXACT [] +synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCI2004_11_17:C27901] +synonym: "localized Ewing's tumor" EXACT [NCI2004_11_17:C7806] +synonym: "localized peripheral primitive neuroectodermal tumor" EXACT [] +synonym: "PNET of Thoracopulmonary Region" EXACT [NCI2004_11_17:C7542] +xref: MSH:C563168 +xref: MSH:D012512 +xref: MSH:D018241 +xref: NCI:C27901 +xref: NCI:C27903 +xref: NCI:C4817 +xref: NCI:C7542 +xref: NCI:C7806 +xref: NCI:C9341 +xref: OMIM:612219 +xref: SNOMEDCT_US_2015_03_01:128783001 +xref: SNOMEDCT_US_2015_03_01:134210007 +xref: SNOMEDCT_US_2015_03_01:253096008 +xref: SNOMEDCT_US_2015_03_01:703707001 +xref: SNOMEDCT_US_2015_03_01:73506006 +xref: SNOMEDCT_US_2015_03_01:73676002 +xref: SNOMEDCT_US_2015_03_01:76909002 +xref: UMLS_CUI:C0553580 +xref: UMLS_CUI:C0684337 +xref: UMLS_CUI:C0796547 +xref: UMLS_CUI:C0863029 +xref: UMLS_CUI:C0877849 +xref: UMLS_CUI:C1334408 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:337 +name: spinal accessory nerve neoplasm +synonym: "neoplasm of accessory nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126977003] +synonym: "XIth Cranial nerve tumors" EXACT [NCI2004_11_17:C5829] +xref: NCI:C5829 +xref: SNOMEDCT_US_2015_03_01:126977003 +xref: UMLS_CUI:C1263902 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:3371 +name: chondrosarcoma +alt_id: DOID:3370 +def: "A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "chondrosarcoma of bone" EXACT [SNOMEDCT_2005_07_31:134336003] +synonym: "primary chondrosarcoma of the bone" EXACT [NCI2004_11_17:C7155] +xref: MSH:D002813 +xref: NCI:C2946 +xref: NCI:C7155 +xref: OMIM:215300 +xref: SNOMEDCT_US_2015_03_01:14990007 +xref: SNOMEDCT_US_2015_03_01:189886003 +xref: SNOMEDCT_US_2015_03_01:443520009 +xref: UMLS_CUI:C0008479 +xref: UMLS_CUI:C1335473 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:3372 +name: chondroblastic osteosarcoma +synonym: "Chondroblastic osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:76312009] +synonym: "chondrosarcomatous Osteogenic sarcoma" EXACT [NCI2004_11_17:C4021] +xref: NCI:C4021 +xref: SNOMEDCT_US_2015_03_01:76312009 +xref: UMLS_CUI:C0279603 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3373 +name: juxtacortical osteosarcoma +synonym: "Parosteal Osteogenic sarcoma" EXACT [NCI2004_11_17:C8969] +synonym: "Parosteal Osteosarcoma" EXACT [MTH:NOCODE] +xref: MSH:D018217 +xref: NCI:C8969 +xref: SNOMEDCT_US_2015_03_01:128918008 +xref: SNOMEDCT_US_2015_03_01:189879006 +xref: SNOMEDCT_US_2015_03_01:91242000 +xref: UMLS_CUI:C0206642 +is_a: DOID:3374 ! peripheral osteosarcoma + +[Term] +id: DOID:3374 +name: peripheral osteosarcoma +synonym: "Surface Osteosarcoma" EXACT [NCI2004_11_17:C7134] +xref: NCI:C7134 +xref: UMLS_CUI:C1332591 +is_a: DOID:3376 ! bone osteosarcoma + +[Term] +id: DOID:3376 +name: bone osteosarcoma +subset: DO_cancer_slim +synonym: "Osteosarcoma of bone (disorder)" EXACT [SNOMEDCT_2005_07_31:307576001] +synonym: "primary Osteosarcoma of bone" EXACT [NCI2004_11_17:C4834] +xref: NCI:C53707 +xref: SNOMEDCT_US_2015_03_01:307576001 +xref: UMLS_CUI:C0585442 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:3377 +name: small cell osteogenic sarcoma +synonym: " small cell osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189882001] +synonym: "Round cell osteosarcoma" EXACT [SNOMEDCT_2005_07_31:12302002] +synonym: "small cell Osteosarcoma" EXACT [NCI2004_11_17:C4023] +xref: NCI:C4023 +xref: SNOMEDCT_US_2015_03_01:12302002 +xref: SNOMEDCT_US_2015_03_01:189882001 +xref: UMLS_CUI:C0279622 +is_a: DOID:3378 ! conventional central osteosarcoma + +[Term] +id: DOID:3378 +name: conventional central osteosarcoma +synonym: "conventional Osteosarcoma" EXACT [NCI2004_11_17:C35870] +synonym: "Medullary Osteosarcoma" EXACT [NCI2004_11_17:C6901] +synonym: "Medullary osteosarcoma" EXACT [SNOMEDCT_2005_07_31:128770002] +is_a: DOID:3376 ! bone osteosarcoma + +[Term] +id: DOID:3379 +name: metachronous osteosarcoma of the bone +xref: NCI:C38157 +xref: UMLS_CUI:C1334704 +is_a: DOID:3347 ! osteosarcoma + +[Term] +id: DOID:338 +name: cranial nerve neoplasm +synonym: "neoplasm of cranial nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126966009] +synonym: "tumor of the Cranial nerve" EXACT [NCI2004_11_17:C2963] +xref: MSH:D003390 +xref: NCI:C2963 +xref: SNOMEDCT_US_2015_03_01:126966009 +xref: UMLS_CUI:C0010267 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:3381 +name: liposarcoma of bone +synonym: "Liposarcoma of the bone" EXACT [NCI2004_11_17:C7598] +xref: NCI:C7598 +xref: UMLS_CUI:C1332581 +is_a: DOID:3347 ! osteosarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:3382 +name: liposarcoma +def: "A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum." [url:http\://en.wikipedia.org/wiki/Liposarcoma] +subset: DO_cancer_slim +xref: MSH:D008080 +xref: NCI:C3194 +xref: SNOMEDCT_US_2015_03_01:189777004 +xref: SNOMEDCT_US_2015_03_01:254829001 +xref: SNOMEDCT_US_2015_03_01:49430005 +xref: UMLS_CUI:C0023827 +is_a: DOID:3939 ! lipomatous cancer + +[Term] +id: DOID:3384 +name: metastatic osteosarcoma +synonym: "metastatic Osteogenic sarcoma" EXACT [NCI2004_11_17:C7781] +is_obsolete: true + +[Term] +id: DOID:3385 +name: bacterial vaginosis +def: "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis." [url:http\://www.rho.org/html/glossary.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis] +synonym: "Bacterial vaginosis" EXACT [SNOMEDCT_2005_07_31:155981006] +synonym: "Bacterial vaginosis" EXACT [SNOMEDCT_2005_07_31:198221007] +synonym: "Bacterial vaginosis" EXACT [SNOMEDCT_2005_07_31:266655004] +synonym: "Bacterial vaginosis (disorder)" EXACT [SNOMEDCT_2005_07_31:85569008] +synonym: "NSV - Nonspecific vaginitis" EXACT [SNOMEDCT_2005_07_31:237092002] +xref: MSH:D016585 +xref: SNOMEDCT_US_2015_03_01:155981006 +xref: SNOMEDCT_US_2015_03_01:198221007 +xref: SNOMEDCT_US_2015_03_01:237092002 +xref: SNOMEDCT_US_2015_03_01:266655004 +xref: SNOMEDCT_US_2015_03_01:419760006 +xref: SNOMEDCT_US_2015_03_01:85569008 +xref: UMLS_CUI:C0085166 +is_a: DOID:2170 ! vaginitis + +[Term] +id: DOID:3388 +name: periodontal disease +synonym: "disease of supporting structures of teeth, NOS" EXACT [SNOMEDCT_2005_07_31:13877006] +synonym: "Periodontal disease" EXACT [SNOMEDCT_2005_07_31:196354003] +synonym: "Periodontal disease (disorder)" EXACT [SNOMEDCT_2005_07_31:2556008] +synonym: "periodontium disorder" EXACT [CSP2005:0828-4279] +xref: ICD10CM:K05.6 +xref: MSH:D010510 +xref: NCI:C63743 +xref: SNOMEDCT_US_2015_03_01:13877006 +xref: SNOMEDCT_US_2015_03_01:196354003 +xref: SNOMEDCT_US_2015_03_01:2556008 +xref: UMLS_CUI:C0031090 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:3389 +name: Papillon-Lefevre disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Papillon Lefevre syndrome" EXACT [CSP2005:0828-4592] +synonym: "Papillon Lefevre syndrome" EXACT [CSP2005:2716-7025] +synonym: "Papillon-Lefvre syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:40158001] +xref: MSH:D010214 +xref: NCI:C84992 +xref: OMIM:245000 +xref: SNOMEDCT_US_2015_03_01:40158001 +xref: UMLS_CUI:C0030360 +is_a: DOID:3388 ! periodontal disease +is_a: DOID:3390 ! palmoplantar keratosis + +[Term] +id: DOID:339 +name: accessory nerve disease +synonym: "disorder of 11th nerve" EXACT [MTHICD9_2006:352.4] +synonym: "disorder of accessory [11th] nerve" EXACT [ICD9CM_2006:352.4] +synonym: "disorder of accessory nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:84759007] +synonym: "Eleventh nerve disorder" EXACT [NCI2004_11_17:C26953] +xref: ICD9CM:352.4 +xref: MSH:D020436 +xref: NCI:C26953 +xref: SNOMEDCT_US_2015_03_01:84759007 +xref: UMLS_CUI:C0152180 +is_a: DOID:3418 ! glossopharyngeal nerve disease + +[Term] +id: DOID:3390 +name: palmoplantar keratosis +def: "A keratosis characterized by abnormal thickening of the palms and the soles." [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] +synonym: "Keratosis palmaris et plantaris" EXACT [SNOMEDCT_2005_07_31:205584004] +synonym: "Palmoplantar Keratoderma" EXACT [NCI2004_11_17:C34748] +xref: ICD10CM:L85.2 +xref: MSH:D007645 +xref: NCI:C34748 +xref: SNOMEDCT_US_2015_03_01:205584004 +xref: SNOMEDCT_US_2015_03_01:28596004 +xref: SNOMEDCT_US_2015_03_01:706885006 +xref: UMLS_CUI:C0022596 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:3393 +name: coronary artery disease +alt_id: DOID:10506 +alt_id: DOID:3363 +alt_id: DOID:3394 +alt_id: DOID:9420 +def: "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." [url:http\://en.wikipedia.org/wiki/Coronary_heart_disease] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "CHD (coronary heart disease)" EXACT [CSP2005:1393-3397] +synonym: "chronic myocardial ischaemia" EXACT [SNOMEDCT_2005_07_31:194852007] +synonym: "coronary arteriosclerosis" EXACT [] +synonym: "Coronary disease" EXACT [NCI2004_11_17:C26732] +synonym: "coronary heart disease" EXACT [] +synonym: "ischemic heart disease" EXACT [] +synonym: "myocardial ischemia" EXACT [] +xref: EFO:0001645 +xref: ICD10CM:I20-I25 +xref: ICD10CM:I25 +xref: ICD10CM:I25.1 +xref: ICD10CM:I25.10 +xref: ICD10CM:I25.9 +xref: ICD10CM:K76.1 +xref: ICD9CM:410-414.99 +xref: ICD9CM:414.0 +xref: ICD9CM:414.9 +xref: MSH:D003324 +xref: MSH:D003327 +xref: MSH:D017202 +xref: NCI:C26732 +xref: NCI:C35505 +xref: NCI:C50625 +xref: OMIM:300464 +xref: OMIM:607339 +xref: OMIM:608316 +xref: OMIM:608318 +xref: OMIM:608320 +xref: OMIM:608901 +xref: OMIM:610938 +xref: OMIM:610947 +xref: OMIM:611139 +xref: OMIM:612030 +xref: OMIM:614293 +xref: OMIM:614466 +xref: SNOMEDCT_US_2015_03_01:155303000 +xref: SNOMEDCT_US_2015_03_01:155315001 +xref: SNOMEDCT_US_2015_03_01:155316000 +xref: SNOMEDCT_US_2015_03_01:155318004 +xref: SNOMEDCT_US_2015_03_01:155322009 +xref: SNOMEDCT_US_2015_03_01:194795001 +xref: SNOMEDCT_US_2015_03_01:194841001 +xref: SNOMEDCT_US_2015_03_01:194852007 +xref: SNOMEDCT_US_2015_03_01:194878003 +xref: SNOMEDCT_US_2015_03_01:195540001 +xref: SNOMEDCT_US_2015_03_01:233822007 +xref: SNOMEDCT_US_2015_03_01:2610009 +xref: SNOMEDCT_US_2015_03_01:266231003 +xref: SNOMEDCT_US_2015_03_01:266290000 +xref: SNOMEDCT_US_2015_03_01:266291001 +xref: SNOMEDCT_US_2015_03_01:271430002 +xref: SNOMEDCT_US_2015_03_01:32598000 +xref: SNOMEDCT_US_2015_03_01:413838009 +xref: SNOMEDCT_US_2015_03_01:413844008 +xref: SNOMEDCT_US_2015_03_01:414545008 +xref: SNOMEDCT_US_2015_03_01:414795007 +xref: SNOMEDCT_US_2015_03_01:41702007 +xref: SNOMEDCT_US_2015_03_01:53741008 +xref: SNOMEDCT_US_2015_03_01:84537008 +xref: UMLS_CUI:C0010054 +xref: UMLS_CUI:C0010068 +xref: UMLS_CUI:C0151744 +xref: UMLS_CUI:C0264694 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:3401 +name: inappropriate ADH syndrome +synonym: "syndrome of Inappropriate Antidiuretic Hormone Secretion" EXACT [NCI2004_11_17:C3988] +synonym: "syndrome of inappropriate secretion of ADH" EXACT [MTHICD9_2006:253.6] +synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [SNOMEDCT_2005_07_31:389983008] +synonym: "syndrome of inappropriate vasopressin secretion (disorder)" EXACT [SNOMEDCT_2005_07_31:55004003] +xref: ICD10CM:E22.2 +xref: MSH:D007177 +xref: NCI:C3988 +xref: SNOMEDCT_US_2015_03_01:389983008 +xref: SNOMEDCT_US_2015_03_01:55004003 +xref: UMLS_CUI:C0021141 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:3402 +name: ectopic hormone secretion syndrome associated with neoplasia +synonym: "neoplasm associated Ectopic Hormone Secretion syndromes" EXACT [NCI2004_11_17:C4065] +is_obsolete: true + +[Term] +id: DOID:3403 +name: hypergammaglobulinemia +synonym: "hypergammaglobulinaemia" EXACT [SNOMEDCT_2005_07_31:154840005] +synonym: "hypergammaglobulinaemia" EXACT [SNOMEDCT_2005_07_31:267571003] +synonym: "hypergammaglobulinemia (finding)" EXACT [SNOMEDCT_2005_07_31:127388009] +synonym: "hypergammaglobulinemia [dup] (finding)" EXACT [SNOMEDCT_2005_07_31:191396003] +synonym: "hypergammaglobulinemia, NOS" EXACT [SNOMEDCT_2005_07_31:58034007] +is_obsolete: true + +[Term] +id: DOID:3404 +name: benign monoclonal gammopathy +synonym: "benign Monoclonal Gammopathy" EXACT [NCI2004_11_17:C3996] +synonym: "benign monoclonal gammopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:58648008] +synonym: "BMH" EXACT [MTHICD9_2006:273.1] +is_obsolete: true + +[Term] +id: DOID:3405 +name: histiocytosis +alt_id: DOID:3344 +def: "A lymphatic system disease that is characterized by an excessive number of histiocytes." [url:http\://en.wikipedia.org/wiki/Histiocytosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000068.htm] +synonym: "chronic Histiocytosis X" EXACT [MTHICD9_2006:277.89] +synonym: "Hand Schuller Christian disease" EXACT [CSP2005:0427-5330] +xref: MSH:D015614 +xref: NCI:C3106 +xref: SNOMEDCT_US_2015_03_01:190957008 +xref: SNOMEDCT_US_2015_03_01:60657004 +xref: SNOMEDCT_US_2015_03_01:65396000 +xref: UMLS_CUI:C0019618 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:3407 +name: carotid artery disease +synonym: "disorder of carotid artery (disorder)" EXACT [SNOMEDCT_2005_07_31:371160000] +xref: MSH:D002340 +xref: NCI:C84476 +xref: SNOMEDCT_US_2015_03_01:371160000 +xref: UMLS_CUI:C0007273 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:341 +name: peripheral vascular disease +alt_id: DOID:2868 +def: "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain." [url:http\://en.wikipedia.org/wiki/Peripheral_vascular_disease] +synonym: "Arterial occlusive disease" EXACT [SNOMEDCT_2005_07_31:2929001] +synonym: "arterial occlusive disease" EXACT [] +xref: ICD9CM:443.81 +xref: MSH:D001157 +xref: SNOMEDCT_US_2015_03_01:195624006 +xref: SNOMEDCT_US_2015_03_01:2929001 +xref: UMLS_CUI:C0003838 +xref: UMLS_CUI:C0031115 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:3410 +name: carotid artery thrombosis +synonym: "Carotid artery thrombosis" EXACT [SNOMEDCT_2005_07_31:195181000] +synonym: "Carotid artery thrombosis (disorder)" EXACT [SNOMEDCT_2005_07_31:86003009] +xref: MSH:D002341 +xref: SNOMEDCT_US_2015_03_01:195181000 +xref: SNOMEDCT_US_2015_03_01:86003009 +xref: UMLS_CUI:C0007274 +is_a: DOID:3407 ! carotid artery disease + +[Term] +id: DOID:3412 +name: infectious canine hepatitis +def: "A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy." [url:http\://en.wikipedia.org/wiki/Infectious_canine_hepatitis, url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm] +is_obsolete: true + +[Term] +id: DOID:3413 +name: alpha-mannosidosis +def: "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." [url:http\://en.wikipedia.org/wiki/Alpha-mannosidosis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alpha-D-mannosidosis" EXACT [SNOMEDCT_2005_07_31:65524005] +synonym: "alpha-mannosidase deficiency" EXACT [] +synonym: "deficiency of alpha-mannosidase (disorder)" EXACT [SNOMEDCT_2005_07_31:124466001] +xref: MSH:D008363 +xref: NCI:C84548 +xref: OMIM:248500 +xref: SNOMEDCT_US_2015_03_01:124466001 +xref: SNOMEDCT_US_2015_03_01:65524005 +xref: UMLS_CUI:C0024748 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:3414 +name: mannosidase deficiency disease +synonym: "mannosidase deficiency" EXACT [CSP2005:1849-6504] +synonym: "Mannosidosis" EXACT [MTHICD9_2006:271.8] +synonym: "Mannosidosis" EXACT [SNOMEDCT_2005_07_31:190937009] +synonym: "Mannosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:65524005] +is_obsolete: true + +[Term] +id: DOID:3417 +name: glossopharyngeal nerve neoplasm +synonym: "neoplasm of glossopharyngeal nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126975006] +synonym: "tumor of Glossopharyngeal nerve" EXACT [NCI2004_11_17:C5828] +xref: NCI:C5828 +xref: SNOMEDCT_US_2015_03_01:126975006 +xref: UMLS_CUI:C1263900 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:3418 +name: glossopharyngeal nerve disease +xref: ICD10CM:G52 +xref: ICD9CM:352 +xref: SNOMEDCT_US_2015_03_01:193098000 +xref: UMLS_CUI:C0154730 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:3419 +name: optic nerve neoplasm +synonym: "neoplasm of optic nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:395505000] +synonym: "neoplasm of optic nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126968005] +synonym: "tumor of Second Cranial nerve" EXACT [NCI2004_11_17:C4801] +synonym: "Tumour of optic nerve" EXACT [SNOMEDCT_2005_07_31:254971001] +xref: MSH:D019574 +xref: NCI:C4801 +xref: SNOMEDCT_US_2015_03_01:126968005 +xref: SNOMEDCT_US_2015_03_01:254971001 +xref: SNOMEDCT_US_2015_03_01:395505000 +xref: UMLS_CUI:C0524802 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:342 +name: subclavian artery aneurysm +xref: ICD9CM:442.82 +xref: SNOMEDCT_US_2015_03_01:40136003 +xref: UMLS_CUI:C0155746 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:3420 +name: neoplasm of visual pathway +synonym: "tumor of the visual pathway" EXACT [NCI2004_11_17:C6262] +is_obsolete: true + +[Term] +id: DOID:3421 +name: trochlear nerve neoplasm +synonym: "neoplasm of trochlear nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126970001] +synonym: "tumor of Trochlear nerve" EXACT [NCI2004_11_17:C5825] +xref: NCI:C5825 +xref: SNOMEDCT_US_2015_03_01:126970001 +xref: UMLS_CUI:C1263896 +is_a: DOID:338 ! cranial nerve neoplasm + +[Term] +id: DOID:3426 +name: vestibular disease +synonym: "disorder of vestibular function, unspecified" EXACT [SNOMEDCT_2005_07_31:194379003] +synonym: "disorder of vestibular function, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:194695008] +synonym: "Vertigo, vestibular disorder" EXACT [SNOMEDCT_2005_07_31:267761002] +synonym: "Vestibular disorder, NOS" EXACT [SNOMEDCT_2005_07_31:20425006] +xref: ICD10CM:H81 +xref: ICD10CM:H81.9 +xref: ICD10CM:H81.90 +xref: MSH:D015837 +xref: SNOMEDCT_US_2015_03_01:194379003 +xref: SNOMEDCT_US_2015_03_01:194695008 +xref: SNOMEDCT_US_2015_03_01:20425006 +xref: SNOMEDCT_US_2015_03_01:267761002 +xref: UMLS_CUI:C0042594 +is_a: DOID:4539 ! labyrinthine disease + +[Term] +id: DOID:3428 +name: granulomatous myositis +comment: Adding UMLS CUI for synonym. +xref: NCI:C27575 +xref: UMLS_CUI:C1334150 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:3429 +name: inclusion body myositis +def: "A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms." [url:http\://en.wikipedia.org/wiki/Inclusion_body_myositis, url:http\://www.jewishgeneticdiseases.org/diseases/hereditary-inclusion-body-myopathy-2/, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/inclusion-body-myositis, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1853926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Distal Myopathy with Rimmed Vacuoles (DMRV)" EXACT [] +synonym: "Distal myopathy, Nonaka type" EXACT [] +synonym: "Hereditary Inclusion Body Myopathy" EXACT [] +synonym: "HIBM" EXACT [] +synonym: "IBM-3" EXACT [] +synonym: "IBM2" EXACT [] +synonym: "inclusion body myopathy 2" EXACT [] +synonym: "inclusion body myopathy 3" EXACT [] +synonym: "Nonaka Myopathy" EXACT [] +synonym: "Nonaka myopathy" EXACT [] +xref: ICD10CM:G72.41 +xref: ICD9CM:359.71 +xref: MSH:D018979 +xref: NCI:C84786 +xref: OMIM:147421 +xref: OMIM:600737 +xref: OMIM:605637 +xref: OMIM:605820 +xref: SNOMEDCT_US_2015_03_01:72315009 +xref: UMLS_CUI:C0238190 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:3431 +name: cerebritis +xref: NCI:C27199 +xref: UMLS_CUI:C0742115 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:3436 +name: viral laryngitis +def: "A acute laryngitis which is caused by viral infection." [url:http\://www.merck.com/mmpe/sec08/ch092/ch092d.html] +xref: NCI:C27305 +xref: SNOMEDCT_US_2015_03_01:441551009 +xref: UMLS_CUI:C0853195 +is_a: DOID:9396 ! acute laryngitis + +[Term] +id: DOID:3437 +name: laryngitis +def: "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption." [url:http\://en.wikipedia.org/wiki/Laryngitis] +xref: MSH:D007827 +xref: NCI:C26811 +xref: SNOMEDCT_US_2015_03_01:45913009 +xref: UMLS_CUI:C0023067 +is_a: DOID:786 ! laryngeal disease + +[Term] +id: DOID:344 +name: disease of biological process +def: "A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms." [DO:wk\,ls] +is_obsolete: true + +[Term] +id: DOID:3443 +name: mammary Paget's disease +synonym: "mammary Paget disease" EXACT [] +synonym: "Paget cell neoplasm" EXACT [NCI2004_11_17:C7073] +synonym: "Paget's disease" EXACT [] +synonym: "Paget's disease of the breast " EXACT [] +xref: NCI:C7073 +xref: UMLS_CUI:C1368019 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:3444 +name: scrotum Paget's disease +synonym: "Paget's disease of scrotum" EXACT [NCI2004_11_17:C7728] +synonym: "scrotum Paget disease" EXACT [] +xref: NCI:C7728 +xref: UMLS_CUI:C0238330 +is_a: DOID:3445 ! scrotal carcinoma + +[Term] +id: DOID:3445 +name: scrotal carcinoma +synonym: "carcinoma of scrotum" EXACT [NCI2004_11_17:C6389] +xref: NCI:C6389 +xref: UMLS_CUI:C1370468 +is_a: DOID:518 ! scrotum neoplasm + +[Term] +id: DOID:3446 +name: anal Paget's disease +synonym: "anal Paget disease" EXACT [] +synonym: "Paget's disease of anus" EXACT [NCI2004_11_17:C5598] +synonym: "Paget's disease of the anus" RELATED [] +xref: NCI:C5598 +xref: UMLS_CUI:C1332274 +is_a: DOID:3447 ! anus adenocarcinoma + +[Term] +id: DOID:3447 +name: anus adenocarcinoma +def: "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of anus" EXACT [NCI2004_11_17:C5600] +synonym: "adenocarcinoma of the anus" RELATED [] +xref: NCI:C5600 +xref: SNOMEDCT_US_2015_03_01:423607006 +xref: UMLS_CUI:C1332257 +is_a: DOID:4908 ! anal carcinoma + +[Term] +id: DOID:3448 +name: penis Paget's disease +synonym: "Paget's disease of penis" EXACT [SNOMEDCT_2005_07_31:255104003] +synonym: "Paget's disease of penis" EXACT [SNOMEDCT_2005_07_31:398768004] +synonym: "penis Paget disease" EXACT [] +xref: NCI:C27817 +xref: SNOMEDCT_US_2015_03_01:255104003 +xref: SNOMEDCT_US_2015_03_01:398768004 +xref: UMLS_CUI:C0221286 +is_a: DOID:3449 ! penis carcinoma + +[Term] +id: DOID:3449 +name: penis carcinoma +def: "A penile cancer that is located_in the skin or tissues of the penis." [url:http\://en.wikipedia.org/wiki/Carcinoma_of_the_penis] +subset: DO_cancer_slim +synonym: "carcinoma of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:372106005] +synonym: "Penile carcinoma" EXACT [NCI2004_11_17:C9061] +xref: NCI:C9061 +xref: SNOMEDCT_US_2015_03_01:372106005 +xref: UMLS_CUI:C0853105 +is_a: DOID:11615 ! penile cancer + +[Term] +id: DOID:345 +name: uterine disease +def: "A female reproductive system disease that is located_in the uterus." [url:http\://www.merriam-webster.com/dictionary/uterus] +xref: ICD10CM:N85.9 +xref: ICD9CM:621.9 +xref: MSH:D014591 +xref: NCI:C26907 +xref: SNOMEDCT_US_2015_03_01:12337004 +xref: SNOMEDCT_US_2015_03_01:156004005 +xref: SNOMEDCT_US_2015_03_01:156009000 +xref: SNOMEDCT_US_2015_03_01:198335006 +xref: SNOMEDCT_US_2015_03_01:237068005 +xref: UMLS_CUI:C0042131 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:3450 +name: cutaneous Paget's disease +synonym: "cutaneous Paget disease" EXACT [] +synonym: "Cutaneous Paget's disease" EXACT [NCI2004_11_17:C4688] +synonym: "Paget's disease of skin (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:232336001] +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:3451 +name: skin carcinoma +def: "A skin cancer that is located_in tissues of the skin and develops from epithelial cells." [url:http\://www.cancer.gov/cancertopics/types/skin] +synonym: "carcinoma OF SKIN" EXACT [MTH:683] +synonym: "carcinoma of skin" RELATED [] +synonym: "Non-melanoma skin cancer" EXACT [NCI2004_11_17:C4914] +xref: NCI:C4914 +xref: UMLS_CUI:C0699893 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:3454 +name: brain infarction +xref: MSH:D020520 +xref: UMLS_CUI:C0751955 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:3456 +name: cervix erosion +synonym: "Erosion of cervix" EXACT [SNOMEDCT_2005_07_31:266662008] +synonym: "Erosion of cervix" EXACT [SNOMEDCT_2005_07_31:156011009] +synonym: "Erosion of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:61253004] +xref: MSH:D002579 +xref: SNOMEDCT_US_2015_03_01:156011009 +xref: SNOMEDCT_US_2015_03_01:266662008 +xref: SNOMEDCT_US_2015_03_01:61253004 +xref: UMLS_CUI:C0007869 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:3457 +name: invasive lobular carcinoma +synonym: "Lobular carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:89740008] +synonym: "Lobular carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189713007] +synonym: "Lobular carcinoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:278054005] +synonym: "Lobular carcinoma of the breast" EXACT [NCI2004_11_17:C3771] +xref: MSH:D018275 +xref: NCI:C3771 +xref: SNOMEDCT_US_2015_03_01:189713007 +xref: SNOMEDCT_US_2015_03_01:278054005 +xref: SNOMEDCT_US_2015_03_01:89740008 +xref: UMLS_CUI:C0206692 +is_a: DOID:0050938 ! breast lobular carcinoma + +[Term] +id: DOID:3458 +name: breast adenocarcinoma +def: "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast." [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=696] +synonym: "adenocarcinoma of breast" RELATED [] +synonym: "Mammary adenocarcinoma" EXACT [NCI2004_11_17:C5214] +xref: NCI:C5214 +xref: UMLS_CUI:C0858252 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:3459 +name: breast carcinoma +def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Breast_cancer] +subset: DO_cancer_slim +synonym: "carcinoma OF breast" EXACT [MTH:118] +synonym: "carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:154513000] +synonym: "carcinoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254838004] +synonym: "carcinoma of breast NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:286898006] +synonym: "Mammary carcinoma" EXACT [NCI2004_11_17:C4872] +xref: EFO:0000305 +xref: NCI:C4872 +xref: SNOMEDCT_US_2015_03_01:154513000 +xref: SNOMEDCT_US_2015_03_01:254838004 +xref: SNOMEDCT_US_2015_03_01:286898006 +xref: UMLS_CUI:C0678222 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:3461 +name: breast hamartoma +is_obsolete: true + +[Term] +id: DOID:3462 +name: hamartoma +alt_id: DOID:3474 +synonym: "hamartoma" EXACT [NCI2004_11_17:C3075] +synonym: "hamartoma (disorder)" EXACT [SNOMEDCT_2005_07_31:400006008] +synonym: "hamartoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:51398009] +synonym: "hamartomatous polyp" EXACT [] +synonym: "hamartomatous polyp (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:27391005] +is_obsolete: true + +[Term] +id: DOID:3463 +name: breast disease +def: "A thoracic disease that is located_in the breast." [url:http\://www.nlm.nih.gov/medlineplus/breastdiseases.html] +xref: ICD10CM:N60-N65 +xref: ICD10CM:N64.9 +xref: ICD9CM:610-612.99 +xref: ICD9CM:611.9 +xref: MSH:D001941 +xref: NCI:C26709 +xref: SNOMEDCT_US_2015_03_01:155946009 +xref: SNOMEDCT_US_2015_03_01:155962003 +xref: SNOMEDCT_US_2015_03_01:155966000 +xref: SNOMEDCT_US_2015_03_01:198129001 +xref: SNOMEDCT_US_2015_03_01:198566004 +xref: SNOMEDCT_US_2015_03_01:266647006 +xref: SNOMEDCT_US_2015_03_01:79604008 +xref: UMLS_CUI:C0006145 +is_a: DOID:0060118 ! thoracic disease + +[Term] +id: DOID:3464 +name: hamartoma of skin appendage +synonym: "hamartoma of skin appendage (disorder)" EXACT [SNOMEDCT_2005_07_31:399906000] +synonym: "skin Appendage hamartoma" EXACT [NCI2004_11_17:C5562] +is_obsolete: true + +[Term] +id: DOID:3465 +name: congenital nevus of skin +synonym: "Congenital nevus of the skin" EXACT [NCI2004_11_17:C5570] +is_obsolete: true + +[Term] +id: DOID:3466 +name: cartilaginous hamartoma +synonym: "Cartilagenous hamartoma" EXACT [NCI2004_11_17:C40424] +synonym: "cartilaginous hamartoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:23604003] +is_obsolete: true + +[Term] +id: DOID:3467 +name: mesenchymal hamartoma +synonym: "mesenchymal hamartoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:80656004] +is_obsolete: true + +[Term] +id: DOID:3470 +name: hamartoma of central nervous system +synonym: "hamartoma of the CNS" EXACT [NCI2004_11_17:C5509] +is_obsolete: true + +[Term] +id: DOID:3472 +name: hamartoma of lung +synonym: "hamartoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:254644003] +synonym: "pulmonary hamartoma" EXACT [NCI2004_11_17:C3497] +is_obsolete: true + +[Term] +id: DOID:3473 +name: brain hamartoma +synonym: "hamartoma of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:277369003] +is_obsolete: true + +[Term] +id: DOID:3476 +name: Lipomatous hamartoma +synonym: "Lipomatous hamartoma" EXACT [NCI2004_11_17:C40426] +synonym: "Lipomatous hamartoma (disorder)" EXACT [SNOMEDCT_2005_07_31:400111008] +is_obsolete: true + +[Term] +id: DOID:3478 +name: iris cancer +alt_id: DOID:6353 +synonym: "malignant neoplasm of iris" EXACT [MTHICD9_2006:190.0] +synonym: "malignant neoplasm of the Iris" EXACT [NCI2004_11_17:C4554] +synonym: "malignant tumor of iris" EXACT [] +synonym: "malignant tumor of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:188264002] +synonym: "tumor of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:231964001] +synonym: "tumor of the Iris" EXACT [NCI2004_11_17:C3142] +xref: MSH:D015811 +xref: NCI:C3142 +xref: NCI:C4554 +xref: SNOMEDCT_US_2015_03_01:188264002 +xref: SNOMEDCT_US_2015_03_01:231964001 +xref: UMLS_CUI:C0022079 +xref: UMLS_CUI:C0346372 +is_a: DOID:3479 ! uveal cancer + +[Term] +id: DOID:3479 +name: uveal cancer +alt_id: DOID:12754 +synonym: "malignant uvea neoplasm" EXACT [] +synonym: "malignant Uveal tumor" EXACT [NCI2004_11_17:C6105] +synonym: "Uveal tumor" EXACT [NCI2004_11_17:C3436] +xref: MSH:D014604 +xref: NCI:C3436 +xref: NCI:C6105 +xref: UMLS_CUI:C0042162 +xref: UMLS_CUI:C1334629 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:348 +name: blepharochalasis +synonym: "(Blepharochalasis) or (pseudoptosis)" EXACT [SNOMEDCT_2005_07_31:193944001] +synonym: "Blepharochalasis (disorder)" EXACT [SNOMEDCT_2005_07_31:47704002] +synonym: "Blepharochalasis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:267650003] +xref: ICD10CM:H02.3 +xref: ICD9CM:374.34 +xref: SNOMEDCT_US_2015_03_01:193944001 +xref: SNOMEDCT_US_2015_03_01:193962005 +xref: SNOMEDCT_US_2015_03_01:267650003 +xref: SNOMEDCT_US_2015_03_01:47704002 +xref: UMLS_CUI:C0005742 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:3480 +name: uveal disease +synonym: "disorder of uveal tract (disorder)" EXACT [SNOMEDCT_2005_07_31:95678007] +synonym: "uvea disorder" EXACT [CSP2005:1114-9583] +synonym: "Uveal disorder" EXACT [NCI2004_11_17:C26908] +xref: MSH:D014603 +xref: NCI:C26908 +xref: SNOMEDCT_US_2015_03_01:95678007 +xref: UMLS_CUI:C0042161 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:3481 +name: septicemic plague +def: "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." [url:http\://emedicine.medscape.com/article/829233-overview#a0104, url:http\://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Septicemic plague (disorder)" EXACT [SNOMEDCT_2005_07_31:9012003] +xref: ICD10CM:A20.7 +xref: ICD9CM:020.2 +xref: MSH:D010930 +xref: SNOMEDCT_US_2015_03_01:9012003 +xref: UMLS_CUI:C0152936 +is_a: DOID:3482 ! plague + +[Term] +id: DOID:3482 +name: plague +def: "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food." [url:http\://emedicine.medscape.com/article/829233-overview#a0104] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A20 +xref: ICD10CM:A20.9 +xref: ICD9CM:020 +xref: ICD9CM:020.9 +xref: MSH:D010930 +xref: NCI:C85015 +xref: SNOMEDCT_US_2015_03_01:186290009 +xref: SNOMEDCT_US_2015_03_01:187298009 +xref: SNOMEDCT_US_2015_03_01:58750007 +xref: UMLS_CUI:C0032064 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:3485 +name: Oxyurida infectious disease +def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida." [url:http\://en.wikipedia.org/wiki/Oxyurida] +is_obsolete: true + +[Term] +id: DOID:3486 +name: necrobiosis lipoidica +synonym: "Necrobiosis lipoidica" EXACT [SNOMEDCT_2005_07_31:201319007] +synonym: "Necrobiosis lipoidica" EXACT [SNOMEDCT_2005_07_31:156394009] +synonym: "Necrobiosis lipoidica" EXACT [SNOMEDCT_2005_07_31:201317009] +synonym: "Necrobiosis lipoidica (disorder)" EXACT [SNOMEDCT_2005_07_31:9418005] +xref: MSH:D009335 +xref: NCI:C34840 +xref: SNOMEDCT_US_2015_03_01:156394009 +xref: SNOMEDCT_US_2015_03_01:201317009 +xref: SNOMEDCT_US_2015_03_01:201319007 +xref: SNOMEDCT_US_2015_03_01:9418005 +xref: UMLS_CUI:C0027538 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:3487 +name: metabolic skin disease +is_obsolete: true + +[Term] +id: DOID:3488 +name: cellulitis +alt_id: DOID:2472 +def: "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion." [url:http\://en.wikipedia.org/wiki/Cellulitis] +xref: ICD10CM:L03.90 +xref: MSH:D002481 +xref: NCI:C26715 +xref: NCI:C34454 +xref: SNOMEDCT_US_2015_03_01:128045006 +xref: SNOMEDCT_US_2015_03_01:156313004 +xref: SNOMEDCT_US_2015_03_01:156317003 +xref: SNOMEDCT_US_2015_03_01:191132005 +xref: SNOMEDCT_US_2015_03_01:200693005 +xref: SNOMEDCT_US_2015_03_01:267833003 +xref: SNOMEDCT_US_2015_03_01:385627004 +xref: SNOMEDCT_US_2015_03_01:62837005 +xref: SNOMEDCT_US_2015_03_01:74276003 +xref: UMLS_CUI:C0007642 +xref: UMLS_CUI:C0007646 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:349 +name: systemic mastocytosis +synonym: "SMCD - systemic mast cell disease" EXACT [SNOMEDCT_2005_07_31:397016004] +synonym: "systemic tissue mast cell disease" EXACT [MTHICD9_2006:202.6] +xref: MSH:D034721 +xref: NCI:C9235 +xref: SNOMEDCT_US_2015_03_01:123310005 +xref: SNOMEDCT_US_2015_03_01:397016004 +xref: SNOMEDCT_US_2015_03_01:50150000 +xref: UMLS_CUI:C0221013 +is_a: DOID:350 ! mastocytosis + +[Term] +id: DOID:3490 +name: Noonan syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Turner's phenotype, karyotype normal (disorder)" EXACT [SNOMEDCT_2005_07_31:205684007] +xref: ICD10CM:Q87.1 +xref: MSH:D009634 +xref: NCI:C34854 +xref: NCI:C75459 +xref: OMIM:163950 +xref: OMIM:609942 +xref: OMIM:610733 +xref: OMIM:611553 +xref: OMIM:613224 +xref: OMIM:613706 +xref: SNOMEDCT_US_2015_03_01:205684007 +xref: SNOMEDCT_US_2015_03_01:205794007 +xref: SNOMEDCT_US_2015_03_01:205824006 +xref: SNOMEDCT_US_2015_03_01:88327006 +xref: UMLS_CUI:C0028326 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:3491 +name: Turner syndrome +alt_id: DOID:5448 +comment: No OMIM mapping, confirmed by DO. [LS]. +synonym: "Bonnevie-Ullrich syndrome" EXACT [SNOMEDCT_2005_07_31:38804009] +synonym: "Bonnevie-Ullrich syndrome NOS" EXACT [SNOMEDCT_2005_07_31:205691005] +synonym: "Bonnevie-Ullrich syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:254279009] +synonym: "Gonadal dysgenesis - Turner" EXACT [SNOMEDCT_2005_07_31:157020008] +synonym: "Gonadal dysgenesis - Turner" EXACT [SNOMEDCT_2005_07_31:268356004] +synonym: "Karyotype 45, X" EXACT [SNOMEDCT_2005_07_31:205685008] +synonym: "Monosomy X" EXACT [NCI2004_11_17:C36630] +synonym: "monosomy X syndrome" EXACT [CSP2005:1254-8447] +synonym: "Turner syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:38804009] +synonym: "Turner's syndrome NOS" EXACT [SNOMEDCT_2005_07_31:205691005] +synonym: "Turner's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268299006] +synonym: "XO syndrome" EXACT [MTHICD9_2006:758.6] +xref: ICD10CM:Q96 +xref: ICD10CM:Q96.0 +xref: ICD10CM:Q96.9 +xref: MSH:D014424 +xref: NCI:C26900 +xref: NCI:C34434 +xref: NCI:C36630 +xref: NCI:C85210 +xref: SNOMEDCT_US_2015_03_01:157020008 +xref: SNOMEDCT_US_2015_03_01:205685008 +xref: SNOMEDCT_US_2015_03_01:205691005 +xref: SNOMEDCT_US_2015_03_01:254279009 +xref: SNOMEDCT_US_2015_03_01:268299006 +xref: SNOMEDCT_US_2015_03_01:268356004 +xref: SNOMEDCT_US_2015_03_01:38804009 +xref: UMLS_CUI:C0041408 +xref: UMLS_CUI:C1527168 +is_a: DOID:14447 ! gonadal dysgenesis + +[Term] +id: DOID:3492 +name: mixed connective tissue disease +def: "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." [url:http\://www.merckmanuals.com/professional/sec04/ch032/ch032c.html] +synonym: "Connective tissue disease overlap syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:398021003] +synonym: "mixed collagen vascular disease (disorder)" EXACT [SNOMEDCT_2005_07_31:33110008] +synonym: "mixed collagen vascular disease (disorder)" EXACT [SNOMEDCT_2005_07_31:398049005] +xref: ICD10CM:M35.1 +xref: MSH:D008947 +xref: NCI:C84892 +xref: SNOMEDCT_US_2015_03_01:33110008 +xref: SNOMEDCT_US_2015_03_01:398021003 +xref: SNOMEDCT_US_2015_03_01:398049005 +xref: UMLS_CUI:C0026272 +is_a: DOID:854 ! collagen disease + +[Term] +id: DOID:3493 +name: signet ring cell adenocarcinoma +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance." [url:http\://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma] +synonym: "Signet ring carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189702009] +synonym: "Signet Ring cell adenocarcinoma" EXACT [NCI2004_11_17:C3774] +synonym: "Signet ring cell carcinoma" EXACT [SNOMEDCT_2005_07_31:189701002] +synonym: "Signet ring cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:87737001] +xref: MSH:D018279 +xref: NCI:C3774 +xref: SNOMEDCT_US_2015_03_01:189701002 +xref: SNOMEDCT_US_2015_03_01:189702009 +xref: SNOMEDCT_US_2015_03_01:87737001 +xref: UMLS_CUI:C0206696 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:3494 +name: bile duct signet ring cell carcinoma +synonym: "bile duct Signet Ring cell carcinoma" EXACT [NCI2004_11_17:C5776] +xref: NCI:C5776 +xref: UMLS_CUI:C0861859 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:3495 +name: extrahepatic bile duct adenocarcinoma +def: "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [NCI2004_11_17:C7975] +synonym: "adenocarcinoma of the extrahepatic bile duct" RELATED [] +xref: NCI:C7975 +xref: UMLS_CUI:C0279659 +is_a: DOID:4682 ! extrahepatic bile duct carcinoma + +[Term] +id: DOID:3497 +name: pancreatic signet ring cell adenocarcinoma +synonym: "pancreatic signet ring cell carcinoma" EXACT [] +synonym: "Signet Ring cell carcinoma of pancreas" EXACT [NCI2004_11_17:C5720] +xref: NCI:C5720 +xref: UMLS_CUI:C1335317 +is_a: DOID:3498 ! pancreatic ductal adenocarcinoma + +[Term] +id: DOID:3498 +name: pancreatic ductal adenocarcinoma +def: "A pancreas adenocarcinoma that derives_from pancreatic duct cells." [url:http\://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma, url:http\://en.wikipedia.org/wiki/Pancreatic_cancer] +subset: DO_cancer_slim +synonym: "ductal adenocarcinoma of the pancreas" EXACT [NCI2004_11_17:C9120] +xref: NCI:C9120 +xref: UMLS_CUI:C1335302 +is_a: DOID:4074 ! pancreas adenocarcinoma + +[Term] +id: DOID:3499 +name: gallbladder signet ring cell adenocarcinoma +synonym: "Signet Ring cell carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5745] +xref: NCI:C5745 +xref: UMLS_CUI:C1333758 +is_a: DOID:3500 ! gallbladder adenocarcinoma + +[Term] +id: DOID:350 +name: mastocytosis +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "mast cell hyperplasia" EXACT [CSP2005:4006-0061] +xref: ICD10CM:Q82.2 +xref: MSH:D008415 +xref: NCI:C84269 +xref: OMIM:154800 +xref: SNOMEDCT_US_2015_03_01:125541005 +xref: SNOMEDCT_US_2015_03_01:397007003 +xref: SNOMEDCT_US_2015_03_01:78745000 +xref: UMLS_CUI:C0024899 +is_a: DOID:9500 ! leukocyte disease + +[Term] +id: DOID:3500 +name: gallbladder adenocarcinoma +def: "A gallbladder carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the gallbladder" EXACT [NCI2004_11_17:C9166] +xref: NCI:C9166 +xref: UMLS_CUI:C0279651 +is_a: DOID:4948 ! gallbladder carcinoma + +[Term] +id: DOID:3501 +name: ampullary signet ring cell adenocarcinoma +synonym: "ampullary signet ring cell carcinoma" EXACT [] +xref: NCI:C6656 +xref: UMLS_CUI:C1332249 +is_a: DOID:3502 ! ampulla of Vater adenocarcinoma + +[Term] +id: DOID:3502 +name: ampulla of Vater adenocarcinoma +def: "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of ampulla of vater" RELATED [] +synonym: "ampullary adenocarcinoma" EXACT [NCI2004_11_17:C6650] +xref: NCI:C6650 +xref: UMLS_CUI:C1332243 +is_a: DOID:4932 ! ampulla of Vater carcinoma + +[Term] +id: DOID:3503 +name: breast signet ring cell adenocarcinoma +synonym: "Mammary Signet Ring cell carcinoma" EXACT [NCI2004_11_17:C5175] +synonym: "signet ring cell carcinoma of breast" RELATED [] +xref: NCI:C5175 +xref: UMLS_CUI:C1335964 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:3504 +name: prostate signet ring cell adenocarcinoma +synonym: "prostate signet ring cell carcinoma" EXACT [] +synonym: "Signet Ring cell carcinoma of prostate" EXACT [NCI2004_11_17:C5535] +xref: NCI:C5535 +xref: UMLS_CUI:C1335520 +is_a: DOID:2526 ! prostate adenocarcinoma + +[Term] +id: DOID:3507 +name: dermatofibrosarcoma protuberans +def: "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly." [url:http\://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans, url:http\://www.cancer.gov/dictionary?CdrID=44276] +comment: MSH:C538219 added from NeuroDevNet [WAK]. +subset: DO_cancer_slim +xref: MSH:D018223 +xref: SNOMEDCT_US_2015_03_01:134160009 +xref: SNOMEDCT_US_2015_03_01:276799004 +xref: SNOMEDCT_US_2015_03_01:302844005 +xref: SNOMEDCT_US_2015_03_01:76594008 +xref: UMLS_CUI:C0206647 +is_a: DOID:3355 ! fibrosarcoma + +[Term] +id: DOID:3508 +name: stricture or kinking of ureter +xref: ICD9CM:593.3 +xref: UMLS_CUI:C0156261 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:3512 +name: neurofibrosarcoma +synonym: "Neurosarcoma [obs]" EXACT [SNOMEDCT_2005_07_31:19897006] +xref: MSH:D018319 +xref: SNOMEDCT_US_2015_03_01:19897006 +xref: SNOMEDCT_US_2015_03_01:404037002 +xref: UMLS_CUI:C0206729 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:3516 +name: adult fibrosarcoma +xref: NCI:C7809 +xref: UMLS_CUI:C0278595 +is_a: DOID:3355 ! fibrosarcoma + +[Term] +id: DOID:3517 +name: conventional fibrosarcoma +xref: NCI:C9429 +xref: UMLS_CUI:C1333156 +is_a: DOID:3355 ! fibrosarcoma + +[Term] +id: DOID:3519 +name: non-metastatic fibrosarcoma +is_obsolete: true + +[Term] +id: DOID:3520 +name: pediatric fibrosarcoma +xref: NCI:C8088 +xref: UMLS_CUI:C0279981 +is_a: DOID:3355 ! fibrosarcoma + +[Term] +id: DOID:3521 +name: childhood soft tissue sarcoma +def: "A sarcoma that affects children and is located_in the soft tissues of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient] +synonym: "pediatric sarcoma of the soft tissue" EXACT [NCI2004_11_17:C7715] +is_obsolete: true + +[Term] +id: DOID:3522 +name: lateral medullary syndrome +synonym: "Posterior inferior cerebellar artery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:78569004] +synonym: "Wallenberg syndrome" EXACT [SNOMEDCT_2005_07_31:195193009] +xref: ICD10CM:G46.3 +xref: MSH:D014854 +xref: NCI:C84807 +xref: SNOMEDCT_US_2015_03_01:195193009 +xref: SNOMEDCT_US_2015_03_01:78569004 +xref: UMLS_CUI:C0043019 +is_a: DOID:3523 ! brain stem infarction + +[Term] +id: DOID:3523 +name: brain stem infarction +synonym: "brain stem infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:95457000] +synonym: "Brainstem infarction" EXACT [SNOMEDCT_2005_07_31:195192004] +synonym: "Brainstem infarction NOS" EXACT [SNOMEDCT_2005_07_31:195191006] +synonym: "Brainstem infarction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:230697005] +xref: MSH:D020526 +xref: SNOMEDCT_US_2015_03_01:195191006 +xref: SNOMEDCT_US_2015_03_01:195192004 +xref: SNOMEDCT_US_2015_03_01:230697005 +xref: SNOMEDCT_US_2015_03_01:95457000 +xref: UMLS_CUI:C0521542 +is_a: DOID:3454 ! brain infarction + +[Term] +id: DOID:3525 +name: middle cerebral artery infarction +xref: MSH:D020244 +xref: UMLS_CUI:C0740392 +is_a: DOID:3526 ! cerebral infarction +is_a: DOID:3527 ! cerebral arterial disease + +[Term] +id: DOID:3526 +name: cerebral infarction +synonym: "Cerebral infarct" EXACT [SNOMEDCT_2005_07_31:155405006] +synonym: "Cerebral infarct" EXACT [SNOMEDCT_2005_07_31:266315008] +synonym: "Cerebral infarction" EXACT [SNOMEDCT_2005_07_31:195188006] +synonym: "Cerebral infarction NOS" EXACT [SNOMEDCT_2005_07_31:195191006] +synonym: "Cerebral infarction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266256009] +synonym: "CVA - Cerebral infarction" EXACT [SNOMEDCT_2005_07_31:20059004] +xref: ICD10CM:I63 +xref: ICD10CM:I63.9 +xref: MSH:D002544 +xref: NCI:C50486 +xref: SNOMEDCT_US_2015_03_01:155405006 +xref: SNOMEDCT_US_2015_03_01:195188006 +xref: SNOMEDCT_US_2015_03_01:195191006 +xref: SNOMEDCT_US_2015_03_01:20059004 +xref: SNOMEDCT_US_2015_03_01:266256009 +xref: SNOMEDCT_US_2015_03_01:266315008 +xref: SNOMEDCT_US_2015_03_01:432504007 +xref: UMLS_CUI:C0007785 +is_a: DOID:3454 ! brain infarction + +[Term] +id: DOID:3527 +name: cerebral arterial disease +xref: MSH:D002539 +xref: UMLS_CUI:C0007774 +is_a: DOID:13089 ! intracranial arterial disease + +[Term] +id: DOID:3528 +name: anterior cerebral artery infarction +xref: MSH:D020243 +xref: UMLS_CUI:C0751843 +is_a: DOID:3526 ! cerebral infarction + +[Term] +id: DOID:3529 +name: central core myopathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "central core disease" EXACT [MTHICD9_2006:359.0] +synonym: "central core disease (disorder)" EXACT [SNOMEDCT_2005_07_31:43152001] +xref: ICD10CM:G71.2 +xref: MSH:D020512 +xref: NCI:C83010 +xref: OMIM:117000 +xref: SNOMEDCT_US_2015_03_01:43152001 +xref: UMLS_CUI:C0751951 +is_a: DOID:422 ! congenital structural myopathy + +[Term] +id: DOID:3530 +name: chronic wasting disease +xref: MSH:D034081 +xref: UMLS_CUI:C1135993 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:3532 +name: peste des petits ruminants infectious disease +def: "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf] +synonym: "Goat plague" EXACT [] +synonym: "Ovine rinderpest" EXACT [] +synonym: "PPR" EXACT [SNOMEDCT_2005_07_31:13261002] +synonym: "Pseudorinderpest" EXACT [] +synonym: "Stomatitis-Pneumoenteritis Syndrome" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3533 +name: Morbillivirus infectious disease +def: "A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." [url:http\://en.wikipedia.org/wiki/Morbillivirus] +is_obsolete: true + +[Term] +id: DOID:3534 +name: Lafora disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Lafora disease (disorder)" EXACT [SNOMEDCT_2005_07_31:230425004] +synonym: "Lafora Progressive Myoclonic Epilepsy" EXACT [] +synonym: "Lafora's disease" EXACT [CSP2005:0485-7984] +synonym: "MYOCLONIC EPILEPSY OF LAFORA" EXACT [] +xref: MSH:D020192 +xref: NCI:C84804 +xref: OMIM:254780 +xref: SNOMEDCT_US_2015_03_01:230425004 +xref: UMLS_CUI:C0751783 +is_a: DOID:1289 ! neurodegenerative disease +is_a: DOID:891 ! progressive myoclonus epilepsy + +[Term] +id: DOID:3535 +name: Unverricht-Lundborg syndrome +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Unverricht - Lundborg disease" EXACT [SNOMEDCT_2005_07_31:192847001] +synonym: "Unverricht's disease" EXACT [CSP2005:0485-7984] +synonym: "Unverricht-Lundborg disease" EXACT [SNOMEDCT_2005_07_31:89480000] +xref: MSH:D020194 +xref: OMIM:254800 +xref: SNOMEDCT_US_2015_03_01:192844008 +xref: SNOMEDCT_US_2015_03_01:192847001 +xref: SNOMEDCT_US_2015_03_01:230423006 +xref: SNOMEDCT_US_2015_03_01:230424000 +xref: SNOMEDCT_US_2015_03_01:89480000 +xref: UMLS_CUI:C0751785 +is_a: DOID:891 ! progressive myoclonus epilepsy + +[Term] +id: DOID:3540 +name: choroid plexus cancer +def: "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." [url:http\://en.wikipedia.org/wiki/Choroid_plexus] +synonym: "choroid plexus neoplasm" RELATED [] +synonym: "tumor of choroid plexus (disorder)" EXACT [SNOMEDCT_2005_07_31:254942002] +synonym: "tumor of the Choroid Plexus" EXACT [NCI2004_11_17:C3473] +xref: MSH:D016545 +xref: NCI:C3473 +xref: SNOMEDCT_US_2015_03_01:254942002 +xref: UMLS_CUI:C0085138 +is_a: DOID:3541 ! cerebral ventricle cancer + +[Term] +id: DOID:3541 +name: cerebral ventricle cancer +alt_id: DOID:10856 +def: "A cerebrum cancer that is located_in the cerebral ventricles." [url:http\://en.wikipedia.org/wiki/Ventricular_system] +synonym: "cerebral ventricle neoplasm" EXACT [CSP2005:2006-2736] +synonym: "Intraventricular tumor of brain" EXACT [NCI2004_11_17:C2937] +xref: ICD10CM:C71.5 +xref: ICD9CM:191.5 +xref: MSH:D002551 +xref: NCI:C2937 +xref: SNOMEDCT_US_2015_03_01:126958000 +xref: SNOMEDCT_US_2015_03_01:188294008 +xref: SNOMEDCT_US_2015_03_01:363471001 +xref: SNOMEDCT_US_2015_03_01:93748005 +xref: UMLS_CUI:C0007798 +xref: UMLS_CUI:C0346906 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:3542 +name: adult choroid plexus cancer +synonym: "adult choroid plexus tumor" RELATED [] +synonym: "neoplasm of the adult Choroid Plexus" EXACT [NCI2004_11_17:C8568] +xref: NCI:C8568 +xref: UMLS_CUI:C0796430 +is_a: DOID:3540 ! choroid plexus cancer + +[Term] +id: DOID:3544 +name: atypical choroid plexus papilloma +synonym: "Atypical Choroid Plexus papilloma" EXACT [NCI2004_11_17:C8382] +synonym: "Atypical choroid plexus papilloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128904001] +xref: NCI:C53686 +xref: SNOMEDCT_US_2015_03_01:128904001 +xref: UMLS_CUI:C1266176 +is_a: DOID:3540 ! choroid plexus cancer + +[Term] +id: DOID:3545 +name: childhood choroid plexus cancer +synonym: "childhood choroid plexus neoplasm" RELATED [] +xref: NCI:C42080 +xref: UMLS_CUI:C0280623 +is_a: DOID:3540 ! choroid plexus cancer + +[Term] +id: DOID:3546 +name: somatosensory disorder +is_obsolete: true + +[Term] +id: DOID:355 +name: mast-cell sarcoma +xref: ICD10CM:C96.2 +xref: ICD9CM:202.6 +xref: MSH:D012515 +xref: NCI:C9348 +xref: SNOMEDCT_US_2015_03_01:118615008 +xref: SNOMEDCT_US_2015_03_01:13583002 +xref: SNOMEDCT_US_2015_03_01:188660004 +xref: SNOMEDCT_US_2015_03_01:188661000 +xref: SNOMEDCT_US_2015_03_01:188670002 +xref: SNOMEDCT_US_2015_03_01:307591004 +xref: SNOMEDCT_US_2015_03_01:397010005 +xref: UMLS_CUI:C0036221 +is_a: DOID:1115 ! sarcoma + +[Term] +id: DOID:3557 +name: superior mesenteric artery syndrome +synonym: "Superior mesenteric artery syndrome" EXACT [SNOMEDCT_2005_07_31:24988007] +synonym: "Superior mesenteric artery syndrome" EXACT [MTHICD9_2006:557.1] +synonym: "Superior mesenteric artery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:197006009] +xref: MSH:D013478 +xref: NCI:C85175 +xref: SNOMEDCT_US_2015_03_01:197006009 +xref: SNOMEDCT_US_2015_03_01:24988007 +xref: UMLS_CUI:C0038828 +is_a: DOID:3558 ! duodenal obstruction + +[Term] +id: DOID:3558 +name: duodenal obstruction +xref: ICD10CM:K31.5 +xref: MSH:D004380 +xref: NCI:C79548 +xref: SNOMEDCT_US_2015_03_01:95532008 +xref: UMLS_CUI:C0013292 +is_a: DOID:4072 ! duodenal disease +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:3559 +name: pseudomyxoma peritonei +def: "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." [url:http\://en.wikipedia.org/wiki/Pseudomyxoma_peritonei, url:http\://www.cancer.gov/dictionary?CdrID=44256, url:http\://www.ncbi.nlm.nih.gov/pubmed/14567019, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract] +subset: DO_cancer_slim +synonym: "mucinous Ascites" EXACT [NCI2004_11_17:C3345] +synonym: "Pseudomyxoma peritonei (disorder)" EXACT [SNOMEDCT_2005_07_31:307601000] +synonym: "Pseudomyxoma peritonei (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112679004] +xref: ICD10:C48.2 +xref: MSH:D011553 +xref: NCI:C3345 +xref: SNOMEDCT_US_2015_03_01:112679004 +xref: SNOMEDCT_US_2015_03_01:307601000 +xref: UMLS_CUI:C0033822 +is_a: DOID:11239 ! appendix cancer + +[Term] +id: DOID:356 +name: intrathoracic lymph node mast cell malignancy +synonym: "malignant mast cell tumors involving intrathoracic lymph nodes" EXACT [ICD9CM_2006:202.62] +synonym: "Mast cell malignancy of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188663002] +is_obsolete: true + +[Term] +id: DOID:3565 +name: meningioma +alt_id: DOID:1137 +alt_id: DOID:3554 +alt_id: DOID:3567 +alt_id: DOID:4750 +def: "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid \"cap\" cells of the arachnoid villi in the meninges." [url:http\://en.wikipedia.org/wiki/Meningioma] +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +synonym: "intracranial meningioma" EXACT [] +synonym: "meningeal neoplasm" EXACT [] +synonym: "meningothelial cell tumor" EXACT [] +synonym: "neoplasm of the meninges" EXACT [NCI2004_11_17:C3229] +synonym: "primary Meningeal tumor" EXACT [NCI2004_11_17:C6971] +synonym: "supratentorial meningioma" EXACT [] +xref: ICD10CM:D32.9 +xref: MSH:D008577 +xref: MSH:D008579 +xref: NCI:C3229 +xref: NCI:C3230 +xref: NCI:C4656 +xref: NCI:C6971 +xref: NCI:C7048 +xref: SNOMEDCT_US_2015_03_01:126965008 +xref: SNOMEDCT_US_2015_03_01:127579001 +xref: SNOMEDCT_US_2015_03_01:134307003 +xref: SNOMEDCT_US_2015_03_01:154621002 +xref: SNOMEDCT_US_2015_03_01:189940004 +xref: SNOMEDCT_US_2015_03_01:189941000 +xref: SNOMEDCT_US_2015_03_01:189945009 +xref: SNOMEDCT_US_2015_03_01:269643009 +xref: SNOMEDCT_US_2015_03_01:302820008 +xref: SNOMEDCT_US_2015_03_01:393566004 +xref: UMLS_CUI:C0025284 +xref: UMLS_CUI:C0025286 +xref: UMLS_CUI:C0349604 +xref: UMLS_CUI:C1334698 +xref: UMLS_CUI:C1336537 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:3568 +name: viral hemorrhagic septicemia +def: "A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." [url:http\://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia] +synonym: "Egtved Disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:357 +name: upper limb lymph node mast cell malignancy +synonym: "malignant mast cell tumors involving lymph nodes of axilla and upper limb" EXACT [ICD9CM_2006:202.64] +synonym: "Mast cell malignancy of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188665009] +is_obsolete: true + +[Term] +id: DOID:3571 +name: liver cancer +alt_id: DOID:12300 +alt_id: DOID:269 +alt_id: DOID:7330 +alt_id: DOID:915 +alt_id: DOID:919 +def: "A gastrointestinal system cancer that is located_in the liver." [url:http\://en.wikipedia.org/wiki/Liver] +subset: TopNodes_DOcancerslim +synonym: "ca liver - primary" EXACT [] +synonym: "Ca liver - primary (disorder)" EXACT [SNOMEDCT_2005_07_31:269548006] +synonym: "hepatic cancer" EXACT [CSP2005:2003-2810] +synonym: "hepatic neoplasm" EXACT [CSP2005:2003-2810] +synonym: "malignant hepato-biliary neoplasm" EXACT [] +synonym: "malignant neoplasm of liver" EXACT [] +synonym: "malignant neoplasm of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:93870000] +synonym: "malignant neoplasm of liver unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187779006] +synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [ICD9CM_2006:155.2] +synonym: "malignant neoplasm of liver, primary" EXACT [ICD9CM_2006:155.0] +synonym: "malignant tumor of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:363361004] +synonym: "neoplasm of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:126851005] +synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [] +synonym: "primary liver cancer" EXACT [] +synonym: "primary malignant neoplasm of Liver" EXACT [NCI2004_11_17:C34803] +synonym: "primary malignant neoplasm of liver" EXACT [SNOMEDCT_2005_07_31:187768001, SNOMEDCT_2005_07_31:93870000] +synonym: "primary malignant neoplasm of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:95214007] +synonym: "primary malignant neoplasm of liver NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187771009] +synonym: "Resectable malignant neoplasm of Liver" EXACT [NCI2004_11_17:C7692] +synonym: "resectable malignant neoplasm of the liver" EXACT [] +xref: ICD10CM:C22.0 +xref: ICD10CM:C22.9 +xref: ICD9CM:155.0 +xref: ICD9CM:155.2 +xref: MSH:D008113 +xref: NCI:C34803 +xref: NCI:C7692 +xref: SNOMEDCT_US_2015_03_01:126851005 +xref: SNOMEDCT_US_2015_03_01:154470007 +xref: SNOMEDCT_US_2015_03_01:187768001 +xref: SNOMEDCT_US_2015_03_01:187771009 +xref: SNOMEDCT_US_2015_03_01:187779006 +xref: SNOMEDCT_US_2015_03_01:269548006 +xref: SNOMEDCT_US_2015_03_01:363361004 +xref: SNOMEDCT_US_2015_03_01:93870000 +xref: SNOMEDCT_US_2015_03_01:95214007 +xref: UMLS_CUI:C0023903 +xref: UMLS_CUI:C0024620 +xref: UMLS_CUI:C0345904 +xref: UMLS_CUI:C0854795 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:3572 +name: intracranial sinus thrombosis +xref: MSH:D012851 +xref: UMLS_CUI:C0037198 +is_a: DOID:4193 ! intracranial thrombosis + +[Term] +id: DOID:3574 +name: lateral sinus thrombosis +synonym: "Thrombosis of lateral venous sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:21258007] +synonym: "Thrombosis transverse sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:192761004] +xref: MSH:D020227 +xref: SNOMEDCT_US_2015_03_01:192761004 +xref: SNOMEDCT_US_2015_03_01:21258007 +xref: UMLS_CUI:C0270639 +is_a: DOID:3572 ! intracranial sinus thrombosis + +[Term] +id: DOID:3575 +name: cavernous sinus thrombosis +synonym: "Thrombosis of cavernous venous sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:89980009] +xref: MSH:D020226 +xref: SNOMEDCT_US_2015_03_01:89980009 +xref: UMLS_CUI:C0238454 +is_a: DOID:3572 ! intracranial sinus thrombosis + +[Term] +id: DOID:3576 +name: sagittal sinus thrombosis +synonym: "Thrombosis of superior longitudinal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:192760003] +synonym: "Thrombosis of superior sagittal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:70607008] +xref: MSH:D020225 +xref: SNOMEDCT_US_2015_03_01:192760003 +xref: SNOMEDCT_US_2015_03_01:70607008 +xref: UMLS_CUI:C0338575 +is_a: DOID:3572 ! intracranial sinus thrombosis + +[Term] +id: DOID:3577 +name: Sertoli cell tumor +synonym: "tubular androblastoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189738002] +xref: MSH:D012707 +xref: NCI:C39976 +xref: SNOMEDCT_US_2015_03_01:128857001 +xref: SNOMEDCT_US_2015_03_01:189738002 +xref: SNOMEDCT_US_2015_03_01:89089007 +xref: UMLS_CUI:C0036769 +is_a: DOID:4757 ! sex cord-stromal neoplasm + +[Term] +id: DOID:3578 +name: ovarian gonadoblastoma +xref: NCI:C39985 +xref: UMLS_CUI:C1518716 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:3579 +name: testicular gonadoblastoma +xref: NCI:C39911 +xref: UMLS_CUI:C1515283 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:3580 +name: testicular mixed germ cell-sex cord-stromal neoplasm +synonym: "testicular mixed germ cell-Sex Cord tumor" EXACT [NCI2004_11_17:C7322] +is_obsolete: true + +[Term] +id: DOID:3583 +name: enterotoxemia +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3584 +name: commensal Clostridium infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "clostridial infection" EXACT [CSP2005:0368-2583] +is_obsolete: true + +[Term] +id: DOID:3586 +name: Puerperal pyrexia of unknown origin +is_obsolete: true + +[Term] +id: DOID:3587 +name: pancreatic ductal carcinoma +alt_id: DOID:10023 +def: "A pancreatic carcinoma located_in the pancreatic duct." [url:http\://en.wikipedia.org/wiki/Pancreatic_cancer, url:http\://en.wikipedia.org/wiki/Pancreatic_duct] +subset: DO_cancer_slim +synonym: "malignant neoplasm of duct of Wirsung" EXACT [MTHICD9_2006:157.3] +synonym: "pancreatic duct cancer" EXACT [] +xref: ICD10CM:C25.3 +xref: ICD9CM:157.3 +xref: MSH:D021441 +xref: SNOMEDCT_US_2015_03_01:187793004 +xref: SNOMEDCT_US_2015_03_01:93939009 +xref: UMLS_CUI:C0153461 +xref: UMLS_CUI:C0887833 +is_a: DOID:4905 ! pancreatic carcinoma + +[Term] +id: DOID:3589 +name: Poor Prognosis metastatic Gestational Trophoblastic tumor +is_obsolete: true + +[Term] +id: DOID:3590 +name: gestational trophoblastic neoplasm +alt_id: DOID:14071 +alt_id: DOID:3598 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "gestational trophoblastic neoplasia" EXACT [NCI2004_11_17:C4699] +synonym: "hydatidiform mole" EXACT [] +synonym: "molar pregnancy" EXACT [CSP2005:2403-0989, NCI2004_11_17:C3110] +xref: ICD10CM:O01 +xref: ICD10CM:O01.0 +xref: ICD10CM:O01.9 +xref: ICD9CM:630 +xref: MSH:D006828 +xref: MSH:D031901 +xref: NCI:C3110 +xref: NCI:C4699 +xref: NCI:C7887 +xref: OMIM:231090 +xref: SNOMEDCT_US_2015_03_01:123300001 +xref: SNOMEDCT_US_2015_03_01:156085008 +xref: SNOMEDCT_US_2015_03_01:189856005 +xref: SNOMEDCT_US_2015_03_01:198610008 +xref: SNOMEDCT_US_2015_03_01:198611007 +xref: SNOMEDCT_US_2015_03_01:235323008 +xref: SNOMEDCT_US_2015_03_01:236118006 +xref: SNOMEDCT_US_2015_03_01:237251001 +xref: SNOMEDCT_US_2015_03_01:367455000 +xref: SNOMEDCT_US_2015_03_01:41491009 +xref: SNOMEDCT_US_2015_03_01:416441004 +xref: SNOMEDCT_US_2015_03_01:417044008 +xref: SNOMEDCT_US_2015_03_01:417475006 +xref: SNOMEDCT_US_2015_03_01:44782008 +xref: SNOMEDCT_US_2015_03_01:48430004 +xref: SNOMEDCT_US_2015_03_01:609517002 +xref: SNOMEDCT_US_2015_03_01:609519004 +xref: UMLS_CUI:C0020217 +xref: UMLS_CUI:C0278796 +xref: UMLS_CUI:C1135868 +is_a: DOID:4085 ! trophoblastic neoplasm + +[Term] +id: DOID:3591 +name: Nonmetastatic Gestational Trophoblastic tumor +is_obsolete: true + +[Term] +id: DOID:3593 +name: epithelioid trophoblastic tumor +xref: NCI:C6900 +xref: SNOMEDCT_US_2015_03_01:128767001 +xref: SNOMEDCT_US_2015_03_01:609515005 +xref: UMLS_CUI:C1266159 +is_a: DOID:4085 ! trophoblastic neoplasm + +[Term] +id: DOID:3594 +name: choriocarcinoma +synonym: "Choriocarcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:188188009] +synonym: "Choriocarcinoma, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:44769000] +synonym: "Chorioepithelioma" EXACT [NCI2004_11_17:C2948] +synonym: "chorioepithelioma" EXACT [CSP2005:2403-0675] +synonym: "Chorioepithelioma NOS" EXACT [MTHICD9_2006:181] +xref: ICD10CM:C58 +xref: MSH:D002822 +xref: NCI:C2948 +xref: SNOMEDCT_US_2015_03_01:188188009 +xref: SNOMEDCT_US_2015_03_01:189444004 +xref: SNOMEDCT_US_2015_03_01:44769000 +xref: UMLS_CUI:C0008497 +is_a: DOID:2021 ! placenta cancer + +[Term] +id: DOID:3596 +name: placental site trophoblastic tumor +synonym: "Placental site trophoblastic tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:237252008] +synonym: "Placental site trophoblastic tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:75320001] +synonym: "Placental-Site Gestational Trophoblastic neoplasm" EXACT [NCI2004_11_17:C3757] +xref: MSH:D018245 +xref: NCI:C3757 +xref: SNOMEDCT_US_2015_03_01:237252008 +xref: SNOMEDCT_US_2015_03_01:75320001 +xref: UMLS_CUI:C0206666 +is_a: DOID:3594 ! choriocarcinoma + +[Term] +id: DOID:3597 +name: Good Prognosis metastatic Gestational Trophoblastic tumor +is_obsolete: true + +[Term] +id: DOID:3602 +name: toxic encephalopathy +synonym: "neurotoxicity" EXACT [NCI2004_11_17:C27961] +synonym: "neurotoxicity" EXACT [CSP2005:4006-0067] +synonym: "Neurotoxicity (disorder)" EXACT [SNOMEDCT_2005_07_31:19466003] +synonym: "neurotoxicity syndrome" EXACT [] +xref: MSH:D020258 +xref: NCI:C27961 +xref: SNOMEDCT_US_2015_03_01:19466003 +xref: UMLS_CUI:C0235032 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:3603 +name: mucinous cystadenocarcinoma +def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." [url:http\://www.wisegeek.com/what-is-a-mucinous-cystadenocarcinoma.htm] +synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:79143006] +synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189692006] +synonym: "Pseudomucinous cystadenocarcinoma" EXACT [NCI2004_11_17:C3776] +xref: MSH:D018282 +xref: NCI:C3776 +xref: SNOMEDCT_US_2015_03_01:189692006 +xref: SNOMEDCT_US_2015_03_01:79143006 +xref: UMLS_CUI:C0206699 +is_a: DOID:3111 ! cystadenocarcinoma + +[Term] +id: DOID:3604 +name: ovarian mucinous cystadenocarcinoma +synonym: "mucinous cystadenocarcinoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254851009] +synonym: "Ovarian mucinous cystadenocarcinoma" EXACT [NCI2004_11_17:C4026] +xref: NCI:C4026 +xref: SNOMEDCT_US_2015_03_01:254851009 +xref: UMLS_CUI:C0279665 +is_a: DOID:3605 ! ovarian cystadenocarcinoma + +[Term] +id: DOID:3605 +name: ovarian cystadenocarcinoma +synonym: "cystadenocarcinoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:314191009] +synonym: "cystadenocarcinoma of the Ovary" EXACT [NCI2004_11_17:C5228] +xref: NCI:C5228 +xref: SNOMEDCT_US_2015_03_01:314191009 +xref: UMLS_CUI:C1096638 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:3606 +name: ovarian mucinous adenocarcinoma +synonym: "mucinous carcinoma of Ovary" EXACT [NCI2004_11_17:C5243] +xref: NCI:C5243 +xref: UMLS_CUI:C1335167 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:3607 +name: appendix mucinous cystadenocarcinoma +synonym: "Colloidal cystadenocarcinoma of the appendix" EXACT [NCI2004_11_17:C5511] +xref: NCI:C5511 +xref: UMLS_CUI:C1096639 +is_a: DOID:3608 ! appendix adenocarcinoma + +[Term] +id: DOID:3608 +name: appendix adenocarcinoma +def: "An appendix carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of appendix" RELATED [] +synonym: "adenocarcinoma of appendix (disorder)" EXACT [SNOMEDCT_2005_07_31:413445002] +synonym: "Appendiceal adenocarcinoma" EXACT [NCI2004_11_17:C7718] +xref: NCI:C7718 +xref: SNOMEDCT_US_2015_03_01:413445002 +xref: UMLS_CUI:C0238003 +is_a: DOID:4902 ! appendix carcinoma + +[Term] +id: DOID:3609 +name: breast mucinous cystadenocarcinoma +xref: NCI:C40354 +xref: UMLS_CUI:C1511318 +is_a: DOID:3610 ! breast mucinous carcinoma + +[Term] +id: DOID:361 +name: cervix endometriosis +synonym: "cervical Endometriosis" EXACT [NCI2004_11_17:C27623] +synonym: "Endometriosis of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:61640006] +xref: NCI:C27623 +xref: SNOMEDCT_US_2015_03_01:61640006 +xref: UMLS_CUI:C0269107 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:3610 +name: breast mucinous carcinoma +synonym: "Invasive mucinous breast carcinoma" EXACT [NCI2004_11_17:C9131] +synonym: "mucinous carcinoma of breast" RELATED [] +xref: NCI:C9131 +xref: SNOMEDCT_US_2015_03_01:444712000 +xref: UMLS_CUI:C1334807 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:3611 +name: acute retinal necrosis syndrome +synonym: "acute retinal necrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:231986000] +xref: MSH:D015882 +xref: SNOMEDCT_US_2015_03_01:231986000 +xref: UMLS_CUI:C0035319 +is_a: DOID:3612 ! retinitis + +[Term] +id: DOID:3612 +name: retinitis +xref: ICD10CM:H30.9 +xref: MSH:D012173 +xref: SNOMEDCT_US_2015_03_01:193450000 +xref: SNOMEDCT_US_2015_03_01:35426003 +xref: SNOMEDCT_US_2015_03_01:399463004 +xref: UMLS_CUI:C0035333 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:3613 +name: Canavan disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "CANAVAN-VAN BOGAERT-BERTRAND DISEASE" EXACT [] +synonym: "Spongy degeneration of central nervous system (disorder)" EXACT [SNOMEDCT_2005_07_31:80544005] +xref: MSH:D017825 +xref: NCI:C84611 +xref: OMIM:271900 +xref: SNOMEDCT_US_2015_03_01:80544005 +xref: UMLS_CUI:C0206307 +is_a: DOID:10579 ! leukodystrophy + +[Term] +id: DOID:3614 +name: Kallmann syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial hypogonadism with anosmia" EXACT [CSP2005:2586-8846] +synonym: "Hypogonadism with anosmia (disorder)" EXACT [SNOMEDCT_2005_07_31:93559003] +synonym: "Kallman syndrome" EXACT [SNOMEDCT_2005_07_31:33927004] +synonym: "Kallman's syndrome" EXACT [SNOMEDCT_2005_07_31:190559001] +xref: ICD10CM:E23.0 +xref: MSH:D017436 +xref: NCI:C75479 +xref: OMIM:147950 +xref: OMIM:244200 +xref: OMIM:610628 +xref: OMIM:612370 +xref: OMIM:612702 +xref: SNOMEDCT_US_2015_03_01:190559001 +xref: SNOMEDCT_US_2015_03_01:33927004 +xref: SNOMEDCT_US_2015_03_01:93559003 +xref: UMLS_CUI:C0162809 +is_a: DOID:1924 ! hypogonadism + +[Term] +id: DOID:3615 +name: infiltrating angiolipoma +synonym: "Angiolipoma, infiltrating (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189781004] +synonym: "Infiltrating angiolipoma" EXACT [SNOMEDCT_2005_07_31:24045002] +xref: NCI:C7449 +xref: SNOMEDCT_US_2015_03_01:189781004 +xref: SNOMEDCT_US_2015_03_01:24045002 +xref: UMLS_CUI:C1305256 +is_a: DOID:3616 ! angiolipoma + +[Term] +id: DOID:3616 +name: angiolipoma +def: "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma." [url:http\://en.wikipedia.org/wiki/Angiolipoma] +xref: MSH:D018206 +xref: NCI:C3733 +xref: SNOMEDCT_US_2015_03_01:189780003 +xref: SNOMEDCT_US_2015_03_01:404057003 +xref: SNOMEDCT_US_2015_03_01:73219006 +xref: UMLS_CUI:C0206632 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:3617 +name: epidural spinal canal angiolipoma +synonym: "Angiolipoma of Extradural Spinal canal" EXACT [NCI2004_11_17:C5424] +xref: NCI:C5424 +xref: UMLS_CUI:C1333416 +is_a: DOID:3616 ! angiolipoma +is_a: DOID:3618 ! epidural neoplasm + +[Term] +id: DOID:3618 +name: epidural neoplasm +synonym: "Extradural tumor" EXACT [NCI2004_11_17:C3019] +xref: MSH:D015174 +xref: NCI:C3019 +xref: UMLS_CUI:C0014536 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:3620 +name: central nervous system cancer +alt_id: DOID:0060093 +alt_id: DOID:1318 +def: "A nervous system cancer that is located_in the central nervous system." [url:http\://en.wikipedia.org/wiki/Central_nervous_system] +synonym: "central nervous system tumor" EXACT [] +synonym: "central nervous system tumors" EXACT [NCI2004_11_17:C9293] +synonym: "CNS neoplasm" EXACT [CSP2005:2012-5421] +synonym: "malignant neoplasm of central nervous system, NOS" EXACT [SNOMEDCT_2005_07_31:93744007] +synonym: "malignant tumor of CNS" EXACT [NCI2004_11_17:C4627] +synonym: "neoplasm of central nervous system (disorder)" EXACT [SNOMEDCT_2005_07_31:126951006] +xref: EFO:0000326 +xref: ICD10CM:C72.9 +xref: MSH:D016543 +xref: NCI:C4627 +xref: NCI:C9293 +xref: SNOMEDCT_US_2015_03_01:126951006 +xref: SNOMEDCT_US_2015_03_01:190135002 +xref: SNOMEDCT_US_2015_03_01:372062007 +xref: SNOMEDCT_US_2015_03_01:93744007 +xref: UMLS_CUI:C0085136 +xref: UMLS_CUI:C0348374 +is_a: DOID:3093 ! nervous system cancer + +[Term] +id: DOID:3621 +name: central nervous system neuroepithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:3627 +name: aortic aneurysm +alt_id: DOID:11138 +alt_id: DOID:7682 +alt_id: DOID:7692 +alt_id: DOID:7703 +def: "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] +synonym: "abdominal aortic aneurysm, ruptured" EXACT [ICD9CM_2006:441.3] +synonym: "Aortic aneurysm of unspecified site, ruptured" EXACT [ICD9CM_2006:441.5] +synonym: "Aortic aneurysm of unspecified site, ruptured (disorder)" EXACT [SNOMEDCT_2005_07_31:195615002] +synonym: "Ruptured abdominal Aortic Aneurysm" EXACT [NCI2004_11_17:C27046] +synonym: "ruptured abdominal aortic aneurysm" EXACT [] +synonym: "Ruptured abdominal aortic aneurysm (disorder)" EXACT [SNOMEDCT_2005_07_31:14336007] +synonym: "Ruptured Aortic Aneurysm" EXACT [NCI2004_11_17:C27198] +synonym: "ruptured aortic aneurysm" EXACT [] +synonym: "Ruptured aortic aneurysm (disorder)" EXACT [SNOMEDCT_2005_07_31:73067008] +synonym: "Ruptured aortic aneurysm NOS" EXACT [SNOMEDCT_2005_07_31:155423003] +synonym: "Ruptured aortic aneurysm NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195264004] +synonym: "Ruptured Thoracic Aneurysm" EXACT [NCI2004_11_17:C27299] +synonym: "ruptured thoracic aortic aneurysm" EXACT [] +synonym: "Ruptured thoracic aortic aneurysm (disorder)" EXACT [SNOMEDCT_2005_07_31:34365005] +synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [] +synonym: "Thoracic aortic aneurysm which has ruptured (disorder)" EXACT [SNOMEDCT_2005_07_31:195258006] +synonym: "Thoracic aortic aneurysm, ruptured" EXACT [ICD9CM_2006:441.1] +synonym: "Thoracoabdominal aortic aneurysm, ruptured (disorder)" EXACT [SNOMEDCT_2005_07_31:195265003] +xref: ICD10CM:I71.1 +xref: ICD10CM:I71.3 +xref: ICD10CM:I71.5 +xref: ICD10CM:I71.8 +xref: ICD10CM:I71.9 +xref: ICD9CM:441.1 +xref: ICD9CM:441.3 +xref: ICD9CM:441.5 +xref: ICD9CM:441.6 +xref: MSH:D001014 +xref: MSH:D001019 +xref: NCI:C26697 +xref: NCI:C27046 +xref: NCI:C27198 +xref: NCI:C27299 +xref: SNOMEDCT_US_2015_03_01:14336007 +xref: SNOMEDCT_US_2015_03_01:155419006 +xref: SNOMEDCT_US_2015_03_01:155423003 +xref: SNOMEDCT_US_2015_03_01:155424009 +xref: SNOMEDCT_US_2015_03_01:195258006 +xref: SNOMEDCT_US_2015_03_01:195264004 +xref: SNOMEDCT_US_2015_03_01:195265003 +xref: SNOMEDCT_US_2015_03_01:195269009 +xref: SNOMEDCT_US_2015_03_01:195615002 +xref: SNOMEDCT_US_2015_03_01:34365005 +xref: SNOMEDCT_US_2015_03_01:67362008 +xref: SNOMEDCT_US_2015_03_01:73067008 +xref: UMLS_CUI:C0003486 +xref: UMLS_CUI:C0265010 +xref: UMLS_CUI:C0265012 +xref: UMLS_CUI:C0741160 +xref: UMLS_CUI:C1305122 +is_a: DOID:520 ! aortic disease + +[Term] +id: DOID:363 +name: uterine cancer +alt_id: DOID:4363 +def: "A female reproductive organ cancer that is located_in the uterus." [url:http\://www.cancer.gov/dictionary?CdrID=445094] +subset: TopNodes_DOcancerslim +synonym: "CA - cancer of uterus" EXACT [SNOMEDCT_2005_07_31:93718007] +synonym: "Ca uterus NOS" EXACT [SNOMEDCT_2005_07_31:269613007] +synonym: "malignant neoplasm of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:371973000] +synonym: "malignant uterine tumor" EXACT [NCI2004_11_17:C3552] +synonym: "neoplasm of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:126908007] +synonym: "Tumour of uterus" EXACT [SNOMEDCT_2005_07_31:156169001] +synonym: "uterine tumor" EXACT [NCI2004_11_17:C3435] +synonym: "uterus neoplasm" EXACT [CSP2005:2016-1566] +xref: ICD10CM:C55 +xref: ICD9CM:179 +xref: MSH:D014594 +xref: NCI:C3435 +xref: NCI:C3552 +xref: SNOMEDCT_US_2015_03_01:126908007 +xref: SNOMEDCT_US_2015_03_01:156169001 +xref: SNOMEDCT_US_2015_03_01:188173004 +xref: SNOMEDCT_US_2015_03_01:269613007 +xref: SNOMEDCT_US_2015_03_01:371973000 +xref: SNOMEDCT_US_2015_03_01:93718007 +xref: SNOMEDCT_US_2015_03_01:94127009 +xref: UMLS_CUI:C0042138 +xref: UMLS_CUI:C0153567 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:3633 +name: beta-mannosidosis +def: "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism." [url:http\://en.wikipedia.org/wiki/Beta-mannosidosis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Beta-D-mannosidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:238047006] +synonym: "beta-mannosidase deficiency" EXACT [] +synonym: "lysosomal beta-mannosidase deficiency" EXACT [] +xref: MSH:D044905 +xref: NCI:C84596 +xref: OMIM:248510 +xref: SNOMEDCT_US_2015_03_01:238047006 +xref: UMLS_CUI:C0342849 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:3635 +name: congenital myasthenic syndrome +def: "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)." [url:http\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "familial infantile myasthenia 1" EXACT [] +synonym: "familial limb-girdle myasthenia" EXACT [] +xref: MSH:D020294 +xref: NCI:C84647 +xref: OMIM:254210 +xref: OMIM:254300 +xref: OMIM:601462 +xref: OMIM:605809 +xref: OMIM:608930 +xref: OMIM:608931 +xref: OMIM:610542 +xref: OMIM:614198 +xref: OMIM:614750 +xref: OMIM:615120 +xref: OMIM:616040 +xref: OMIM:616227 +xref: OMIM:616228 +xref: OMIM:616304 +xref: OMIM:616313 +xref: OMIM:616314 +xref: OMIM:616321 +xref: OMIM:616322 +xref: OMIM:616323 +xref: OMIM:616324 +xref: OMIM:616325 +xref: OMIM:616326 +xref: OMIM:616330 +xref: ORDO:590 +xref: SNOMEDCT_US_2015_03_01:230672006 +xref: UMLS_CUI:C0751882 +is_a: DOID:439 ! neuromuscular junction disease + +[Term] +id: DOID:3636 +name: commensal Desulfovibrionaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3637 +name: childhood spinal cord tumor +synonym: "childhood Spinal Cord neoplasm" EXACT [NCI2004_11_17:C9234] +xref: NCI:C9234 +xref: UMLS_CUI:C1134515 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:3639 +name: spinal cord intramedullary teratoma +synonym: "Intramedullary Spinal teratoma" EXACT [NCI2004_11_17:C5428] +xref: NCI:C5428 +xref: UMLS_CUI:C1334259 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:364 +name: spontaneous rupture of bladder +synonym: "Nontraumatic rupture of bladder (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:840001] +synonym: "Rupture of bladder, nontraumatic" EXACT [ICD9CM_2006:596.6] +synonym: "spontaneous rupture of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:197881002] +is_obsolete: true + +[Term] +id: DOID:3640 +name: central nervous system teratoma +synonym: "CNS teratoma" EXACT [NCI2004_11_17:C5441] +xref: NCI:C5441 +xref: UMLS_CUI:C1332895 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:3641 +name: conus medullaris neoplasm +synonym: "tumor of Conus Medullaris" EXACT [NCI2004_11_17:C5443] +xref: NCI:C5443 +xref: UMLS_CUI:C1333153 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:3642 +name: empty sella syndrome +synonym: "Empty sella syndrome" EXACT [SNOMEDCT_2005_07_31:393569006] +synonym: "Empty sella syndrome" EXACT [SNOMEDCT_2005_07_31:190489005] +synonym: "Empty sella syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:237722004] +xref: MSH:D004652 +xref: NCI:C84686 +xref: SNOMEDCT_US_2015_03_01:190489005 +xref: SNOMEDCT_US_2015_03_01:237722004 +xref: SNOMEDCT_US_2015_03_01:393569006 +xref: UMLS_CUI:C0014008 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:3643 +name: sella turcica neoplasm +synonym: "tumor of Sella Turcica" EXACT [NCI2004_11_17:C4944] +xref: NCI:C4944 +xref: UMLS_CUI:C0748616 +is_a: DOID:3842 ! skull base neoplasm + +[Term] +id: DOID:3644 +name: hypothalamic neoplasm +synonym: "neoplasm of the Hypothalamus" EXACT [NCI2004_11_17:C3129] +synonym: "tumor of hypothalamus (disorder)" EXACT [SNOMEDCT_2005_07_31:254968009] +xref: MSH:D007029 +xref: NCI:C3129 +xref: SNOMEDCT_US_2015_03_01:254968009 +xref: UMLS_CUI:C0020659 +is_a: DOID:1659 ! supratentorial cancer + +[Term] +id: DOID:3646 +name: necrosis of pituitary +synonym: "necrosis of pituitary (disorder)" EXACT [SNOMEDCT_2005_07_31:59572000] +synonym: "Pituitary necrosis" EXACT [NCI2004_11_17:C27066] +xref: NCI:C27066 +xref: SNOMEDCT_US_2015_03_01:59572000 +xref: UMLS_CUI:C0271558 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:3648 +name: inborn errors pyruvate metabolism +synonym: "Inborn error of pyruvate metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:53210006] +is_obsolete: true + +[Term] +id: DOID:3649 +name: pyruvate decarboxylase deficiency +def: "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." [url:http\://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, url:http\://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "deficiency of pyruvic dehydrogenase" EXACT [SNOMEDCT_2005_07_31:124160001] +synonym: "deficiency of pyruvic dehydrogenase" EXACT [SNOMEDCT_2005_07_31:46683007] +synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [] +synonym: "pyruvate dehydrogenase deficiency" EXACT [SNOMEDCT_2005_07_31:190761008] +xref: ICD10CM:E74.4 +xref: MSH:D015325 +xref: NCI:C103968 +xref: OMIM:245348 +xref: OMIM:245349 +xref: OMIM:312170 +xref: OMIM:608782 +xref: OMIM:614111 +xref: ORDO:79243 +xref: SNOMEDCT_US_2015_03_01:124160001 +xref: SNOMEDCT_US_2015_03_01:190761008 +xref: SNOMEDCT_US_2015_03_01:46683007 +xref: UMLS_CUI:C0034345 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:365 +name: bladder disease +def: "A urinary system disease that is located_in the bladder." [url:http\://www.nlm.nih.gov/medlineplus/bladderdiseases.html] +synonym: "Urinary Bladder Disease" EXACT [] +xref: ICD10CM:N32.9 +xref: ICD9CM:596.9 +xref: MSH:D001745 +xref: NCI:C2900 +xref: SNOMEDCT_US_2015_03_01:155886002 +xref: SNOMEDCT_US_2015_03_01:155890000 +xref: SNOMEDCT_US_2015_03_01:197897007 +xref: SNOMEDCT_US_2015_03_01:266630005 +xref: SNOMEDCT_US_2015_03_01:42643001 +xref: UMLS_CUI:C0005686 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:3650 +name: lactic acidosis +def: "An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate." [url:http\://en.wikipedia.org/wiki/Lactic_acidosis] +xref: ICD10CM:E87.2 +xref: MSH:D000140 +xref: NCI:C98969 +xref: SNOMEDCT_US_2015_03_01:91273001 +xref: UMLS_CUI:C0001125 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:3651 +name: pyruvate carboxylase deficiency disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency of pyruvic carboxylase" EXACT [SNOMEDCT_2005_07_31:124716008] +synonym: "deficiency of pyruvic carboxylase" EXACT [SNOMEDCT_2005_07_31:87694001] +xref: ICD10CM:E74.4 +xref: MSH:D015324 +xref: NCI:C85040 +xref: OMIM:266150 +xref: SNOMEDCT_US_2015_03_01:124716008 +xref: SNOMEDCT_US_2015_03_01:87694001 +xref: UMLS_CUI:C0034341 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:3652 +name: Leigh disease +def: "A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." [url:http\://en.wikipedia.org/wiki/Leigh%27s_disease, url:http\://ghr.nlm.nih.gov/condition/leigh-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Infantile necrotizing encephalomyelopathy" EXACT [MTHICD9_2006:330.8] +synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [] +synonym: "Leigh syndrome" EXACT [] +synonym: "subacute necrotizing encephalomyelopathy" RELATED [CSP2005:1254-7727] +xref: ICD10CM:G31.82 +xref: MSH:D007888 +xref: NCI:C84814 +xref: OMIM:220111 +xref: OMIM:256000 +xref: OMIM:308930 +xref: ORDO:506 +xref: SNOMEDCT_US_2015_03_01:29570005 +xref: UMLS_CUI:C0023264 +is_a: DOID:700 ! mitochondrial metabolism disease + +[Term] +id: DOID:3653 +name: laboratory infectious disease +synonym: "laboratory infection" EXACT [CSP2005:2119-8616] +is_obsolete: true + +[Term] +id: DOID:3659 +name: sialuria +def: "A lysosomal storage disease characterized by increased sialic acid in the urine." [url:http\://en.wikipedia.org/wiki/Sialuria, url:http\://www.ncbi.nlm.nih.gov/books/NBK1164/, url:http\://www.omim.org/entry/269921] +comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping submitted by NeuroDevNet. [LS]. +xref: MSH:D029461 +xref: NCI:C85067 +xref: OMIM:269921 +xref: OMIM:604369 +xref: SNOMEDCT_US_2015_03_01:238051008 +xref: UMLS_CUI:C0342853 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:366 +name: olfactory nerve neoplasm +synonym: "neoplasm of olfactory nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:126967000] +synonym: "tumor of Olfactory nerve" EXACT [NCI2004_11_17:C5121] +xref: NCI:C5121 +xref: SNOMEDCT_US_2015_03_01:126967000 +xref: UMLS_CUI:C0346319 +is_a: DOID:2815 ! cranial nerve malignant neoplasm + +[Term] +id: DOID:3660 +name: wheat allergic reaction +xref: MSH:D021182 +xref: SNOMEDCT_US_2015_03_01:420174000 +xref: UMLS_CUI:C0949570 +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:3663 +name: cutaneous mastocytosis +synonym: "CM" EXACT [NCI2004_11_17:C7137] +synonym: "Cutaneous mastocytosis (disorder)" EXACT [SNOMEDCT_2005_07_31:397012002] +xref: MSH:D034701 +xref: NCI:C7137 +xref: SNOMEDCT_US_2015_03_01:397012002 +xref: SNOMEDCT_US_2015_03_01:703827008 +xref: UMLS_CUI:C1136033 +is_a: DOID:350 ! mastocytosis + +[Term] +id: DOID:3664 +name: mast cell neoplasm +def: "A hematologic cancer that has_material_basis_in mast cells." [url:http\://en.wikipedia.org/wiki/Mastocytoma, url:http\://www.cancer.gov/dictionary?CdrID=410729] +subset: DO_cancer_slim +synonym: "Mast cell Proliferative disease" EXACT [NCI2004_11_17:C9295] +synonym: "mast cell tumor" EXACT [] +synonym: "mastocytoma" EXACT [NCI2004_11_17:C9303] +xref: ICD10CM:D47.0 +xref: NCI:C9295 +xref: SNOMEDCT_US_2015_03_01:127581004 +xref: SNOMEDCT_US_2015_03_01:190021001 +xref: SNOMEDCT_US_2015_03_01:414653009 +xref: SNOMEDCT_US_2015_03_01:89796001 +xref: UMLS_CUI:C0334664 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:3665 +name: diffuse cutaneous mastocytosis +synonym: "Diffuse Cutaneous Mastocytosis" EXACT [NCI2004_11_17:C3218] +xref: MSH:D034701 +xref: NCI:C3218 +xref: SNOMEDCT_US_2015_03_01:703826004 +xref: UMLS_CUI:C0024901 +is_a: DOID:3663 ! cutaneous mastocytosis + +[Term] +id: DOID:3666 +name: cutaneous solitary mastocytoma +synonym: "Solitary mastocytoma" EXACT [SNOMEDCT_2005_07_31:397013007] +synonym: "Solitary Mastocytoma of skin" EXACT [NCI2004_11_17:C7138] +is_a: DOID:3664 ! mast cell neoplasm + +[Term] +id: DOID:3667 +name: Cardiovirus infectious disease +def: "A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." [url:http\://vir.sgmjournals.org/cgi/content/full/91/6/1418] +is_obsolete: true + +[Term] +id: DOID:3668 +name: Picornaviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." [url:http\://en.wikipedia.org/wiki/Picornaviridae] +is_obsolete: true + +[Term] +id: DOID:3669 +name: intermittent claudication +synonym: "Charcot's syndrome" EXACT [CSP2005:0413-3711] +synonym: "Charcot's syndrome" EXACT [CSP2005:0571-6915] +synonym: "Charcot's syndrome" EXACT [CSP2005:4000-0117] +synonym: "Intermittent claudication" EXACT [SNOMEDCT_2005_07_31:155430009] +synonym: "Intermittent claudication" EXACT [SNOMEDCT_2005_07_31:195312007] +synonym: "Intermittent claudication (disorder)" EXACT [SNOMEDCT_2005_07_31:63491006] +synonym: "Intermittent claudication NOS" EXACT [MTHICD9_2006:443.9] +xref: ICD10CM:I73.9 +xref: MSH:D007383 +xref: SNOMEDCT_US_2015_03_01:155430009 +xref: SNOMEDCT_US_2015_03_01:195312007 +xref: SNOMEDCT_US_2015_03_01:63491006 +xref: UMLS_CUI:C0021775 +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:367 +name: olfactory nerve disease +synonym: "disorder of 1st nerve" EXACT [MTHICD9_2006:352.0] +synonym: "disorder of 1st nerve" EXACT [NCI2004_11_17:C27210] +synonym: "disorder of olfactory [1st] nerve" EXACT [ICD9CM_2006:352.0] +synonym: "disorder of olfactory nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:68982002] +xref: ICD10CM:G52.0 +xref: ICD9CM:352.0 +xref: MSH:D020431 +xref: NCI:C27210 +xref: SNOMEDCT_US_2015_03_01:68982002 +xref: UMLS_CUI:C0751937 +is_a: DOID:3418 ! glossopharyngeal nerve disease +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:3671 +name: pericoronitis +synonym: "Pericoronitis (disorder)" EXACT [SNOMEDCT_2005_07_31:22240003] +xref: MSH:D010497 +xref: SNOMEDCT_US_2015_03_01:22240003 +xref: UMLS_CUI:C0031055 +is_a: DOID:1483 ! gingival disease + +[Term] +id: DOID:3672 +name: rhabdoid cancer +def: "A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system." [url:http\://www.cancer.iu.edu/renaltumors/rhabdoid/facts/] +synonym: "malignant rhabdoid tumour" EXACT [SNOMEDCT_2005_07_31:83118000] +synonym: "Rhabdoid sarcoma" EXACT [SNOMEDCT_2005_07_31:189812005] +synonym: "Rhabdoid sarcoma" EXACT [NCI2004_11_17:C3808] +synonym: "rhabdoid tumor" RELATED [] +xref: MSH:D018335 +xref: NCI:C3808 +xref: SNOMEDCT_US_2015_03_01:189812005 +xref: SNOMEDCT_US_2015_03_01:83118000 +xref: UMLS_CUI:C0206743 +is_a: DOID:3675 ! childhood kidney neoplasm + +[Term] +id: DOID:3674 +name: kidney rhabdoid cancer +def: "A embryonal cancer that is located in the kidney." [url:http\://www.childrenshospital.org/az/Site1526/mainpageS1526P0.html] +synonym: "kidney rhabdoid tumor" RELATED [] +synonym: "renal Rhabdoid tumor" EXACT [NCI2004_11_17:C8715] +xref: NCI:C8715 +xref: UMLS_CUI:C0854917 +is_a: DOID:3672 ! rhabdoid cancer + +[Term] +id: DOID:3675 +name: childhood kidney neoplasm +synonym: "pediatric renal tumor" EXACT [NCI2004_11_17:C6563] +xref: NCI:C6563 +xref: UMLS_CUI:C1333003 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:3677 +name: pulmonary plasma cell granuloma +synonym: "granuloma, plasma cell, pulmonary" EXACT [] +synonym: "Lymphocytic pseudotumor of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:1648002] +synonym: "Sclerosing hemangiocytoma of lung" EXACT [SNOMEDCT_2005_07_31:254641006] +xref: MSH:D016726 +xref: SNOMEDCT_US_2015_03_01:1648002 +xref: SNOMEDCT_US_2015_03_01:254641006 +xref: SNOMEDCT_US_2015_03_01:707373004 +xref: UMLS_CUI:C0085269 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:368 +name: cerebrum cancer +alt_id: DOID:912 +def: "A supratentorial cancer that is located_in the cerebrum." [url:http\://en.wikipedia.org/wiki/Cerebrum] +synonym: "cerebral cancer" EXACT [] +synonym: "neoplasm of cerebrum (disorder)" EXACT [SNOMEDCT_2005_07_31:126953009] +synonym: "tumor of Cerebrum" EXACT [NCI2004_11_17:C4874] +xref: ICD9CM:191.8 +xref: NCI:C4874 +xref: SNOMEDCT_US_2015_03_01:126953009 +xref: SNOMEDCT_US_2015_03_01:188300006 +xref: SNOMEDCT_US_2015_03_01:188304002 +xref: UMLS_CUI:C0153642 +xref: UMLS_CUI:C1263885 +is_a: DOID:1659 ! supratentorial cancer + +[Term] +id: DOID:3680 +name: malignant neoplasm of lip, oral cavity and pharynx +alt_id: DOID:8722 +alt_id: DOID:8862 +alt_id: DOID:8894 +alt_id: DOID:8952 +synonym: "malignant neoplasm of mouth" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of mouth NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187670000] +synonym: "malignant neoplasm of mouth, unspecified" EXACT [] +synonym: "malignant neoplasm of oral cavity NOS" EXACT [MTHICD9_2006:145.9] +synonym: "malignant neoplasm of other specified mouth parts (disorder)" EXACT [SNOMEDCT_2005_07_31:187669001] +synonym: "malignant neoplasm of other specified parts of mouth" EXACT [] +synonym: "malignant neoplasm of palate NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187667004] +synonym: "malignant neoplasm of palate unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187665007] +synonym: "malignant neoplasm of palate, unspecified" EXACT [] +synonym: "malignant neoplasm of pharynx" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of pharynx unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187714006] +synonym: "malignant neoplasm of pharynx, NOS" EXACT [SNOMEDCT_2005_07_31:93961004] +synonym: "malignant neoplasm of pharynx, unspecified" EXACT [] +synonym: "malignant neoplasm of roof of mouth" EXACT [MTHICD9_2006:145.5, SNOMEDCT_2005_07_31:93935003] +synonym: "malignant Oral cavity neoplasm" EXACT [NCI2004_11_17:C9314] +synonym: "malignant Oral neoplasm" EXACT [NCI2004_11_17:C9316] +synonym: "malignant Pharyngeal tumor" EXACT [NCI2004_11_17:C7545] +synonym: "malignant tumor of oral cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:363505006] +synonym: "malignant tumor of palate (disorder)" EXACT [SNOMEDCT_2005_07_31:363390005] +synonym: "malignant tumor of pharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:363507003] +synonym: "malignant tumor of the Palate" EXACT [NCI2004_11_17:C3530] +synonym: "malignant tumour of mouth" EXACT [SNOMEDCT_2005_07_31:93897007] +is_obsolete: true + +[Term] +id: DOID:3683 +name: lung benign neoplasm +synonym: "tumor of the lung" EXACT [NCI2004_11_17:C3200] +xref: MSH:D008175 +xref: NCI:C3200 +xref: SNOMEDCT_US_2015_03_01:126713003 +xref: UMLS_CUI:C0024121 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:3686 +name: Helicobacter pylori infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Helicobacter Pylori Infection" EXACT [NCI2004_11_17:C39293] +is_obsolete: true + +[Term] +id: DOID:3687 +name: MELAS syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES" EXACT [] +xref: ICD10CM:E88.41 +xref: MSH:D017241 +xref: OMIM:540000 +xref: SNOMEDCT_US_2015_03_01:240097009 +xref: SNOMEDCT_US_2015_03_01:39925003 +xref: UMLS_CUI:C0162671 +is_a: DOID:890 ! mitochondrial encephalomyopathy + +[Term] +id: DOID:3688 +name: plexopathy +xref: NCI:C27744 +xref: UMLS_CUI:C1335437 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:3689 +name: brachial plexus neuritis +synonym: "Brachial neuritis" EXACT [SNOMEDCT_2005_07_31:268079007] +synonym: "Brachial neuritis" EXACT [SNOMEDCT_2005_07_31:3548001] +synonym: "Brachial neuritis" EXACT [SNOMEDCT_2005_07_31:156642003] +synonym: "Brachial neuritis (disorder)" EXACT [SNOMEDCT_2005_07_31:72893007] +synonym: "Parsonage-Aldren-Turner syndrome" EXACT [MTHICD9_2006:353.5] +synonym: "Parsonage-Aldren-Turner syndrome" EXACT [SNOMEDCT_2005_07_31:26609002] +xref: ICD10CM:G54.5 +xref: MSH:D020968 +xref: NCI:C84600 +xref: SNOMEDCT_US_2015_03_01:156642003 +xref: SNOMEDCT_US_2015_03_01:26609002 +xref: SNOMEDCT_US_2015_03_01:268079007 +xref: SNOMEDCT_US_2015_03_01:3548001 +xref: SNOMEDCT_US_2015_03_01:72893007 +xref: UMLS_CUI:C0221759 +is_a: DOID:3690 ! brachial plexus neuropathy + +[Term] +id: DOID:369 +name: olfactory neuroblastoma +synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189937004] +synonym: "Esthesioneuroblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:76060004] +synonym: "Esthesioneuroepithelioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:68614005] +synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189938009] +synonym: "Olfactory Esthesioneuroblastoma" EXACT [NCI2004_11_17:C3789] +synonym: "paranasal sinus Olfactory neuroblastoma" EXACT [NCI2004_11_17:C6016] +xref: MSH:D018304 +xref: NCI:C3789 +xref: NCI:C6016 +xref: SNOMEDCT_US_2015_03_01:189937004 +xref: SNOMEDCT_US_2015_03_01:189938009 +xref: SNOMEDCT_US_2015_03_01:422886007 +xref: SNOMEDCT_US_2015_03_01:68614005 +xref: SNOMEDCT_US_2015_03_01:76060004 +xref: UMLS_CUI:C0206717 +is_a: DOID:366 ! olfactory nerve neoplasm + +[Term] +id: DOID:3690 +name: brachial plexus neuropathy +synonym: "brachial plexopathy" EXACT [NCI2004_11_17:C27194] +synonym: "Brachial plexus disorder" EXACT [SNOMEDCT_2005_07_31:3548001] +xref: ICD10CM:G54.0 +xref: MSH:D020516 +xref: NCI:C27194 +xref: SNOMEDCT_US_2015_03_01:3548001 +xref: UMLS_CUI:C0700251 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:3691 +name: anal colloid adenocarcinoma +def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "mucinous adenocarcinoma of anus" EXACT [NCI2004_11_17:C5606] +xref: NCI:C5606 +xref: UMLS_CUI:C1332272 +is_a: DOID:3447 ! anus adenocarcinoma + +[Term] +id: DOID:3692 +name: anal canal adenocarcinoma +def: "An anal canal cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of anal canal" RELATED [] +synonym: "adenocarcinoma of the anal canal" EXACT [NCI2004_11_17:C7471] +xref: NCI:C7471 +xref: UMLS_CUI:C1332259 +is_a: DOID:0050688 ! anal canal cancer + +[Term] +id: DOID:3693 +name: ampulla of Vater mucinous adenocarcinoma +xref: NCI:C27416 +xref: UMLS_CUI:C1332248 +is_a: DOID:3502 ! ampulla of Vater adenocarcinoma + +[Term] +id: DOID:3694 +name: adnexal mucinous adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:3695 +name: adnexa adenocarcinoma +synonym: "adenocarcinoma of the adnexa" RELATED [] +synonym: "adenocarcinoma of the skin Appendage" EXACT [NCI2004_11_17:C5571] +is_obsolete: true + +[Term] +id: DOID:3696 +name: acute sanguinous otitis media +def: "A acute transudative otitis media which involves bloody effusion." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] +synonym: "acute sanguinous otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:77478005] +xref: ICD9CM:381.03 +xref: SNOMEDCT_US_2015_03_01:77478005 +xref: UMLS_CUI:C0395865 +is_a: DOID:3697 ! acute transudative otitis media + +[Term] +id: DOID:3697 +name: acute transudative otitis media +def: "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] +synonym: "acute non-suppurative otitis media" EXACT [SNOMEDCT_2005_07_31:155218001] +synonym: "acute non-suppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:359609001] +synonym: "acute non-suppurative otitis media [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:194238001] +synonym: "acute non-suppurative otitis media NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194244002] +synonym: "acute nonsuppurative otitis media" EXACT [ICD9CM_2006:381.0] +synonym: "acute nonsuppurative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:36958006] +synonym: "acute nonsuppurative otitis media, unspecified" EXACT [ICD9CM_2006:381.00] +synonym: "acute otitis media with effusion (disorder)" EXACT [SNOMEDCT_2005_07_31:270490007] +synonym: "acute secretory otitis media" EXACT [SNOMEDCT_2005_07_31:11957006] +synonym: "acute secretory otitis media" EXACT [SNOMEDCT_2005_07_31:194239009] +synonym: "acute transudative otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:35183001] +xref: ICD9CM:381.0 +xref: ICD9CM:381.00 +xref: SNOMEDCT_US_2015_03_01:11957006 +xref: SNOMEDCT_US_2015_03_01:155218001 +xref: SNOMEDCT_US_2015_03_01:194238001 +xref: SNOMEDCT_US_2015_03_01:194239009 +xref: SNOMEDCT_US_2015_03_01:194244002 +xref: SNOMEDCT_US_2015_03_01:35183001 +xref: SNOMEDCT_US_2015_03_01:359609001 +xref: SNOMEDCT_US_2015_03_01:36958006 +xref: UMLS_CUI:C0271432 +is_a: DOID:11180 ! non-suppurative otitis media + +[Term] +id: DOID:3698 +name: bile duct mucinous adenocarcinoma +synonym: "mucinous carcinoma of the bile duct" EXACT [NCI2004_11_17:C5846] +xref: NCI:C5846 +xref: UMLS_CUI:C0861856 +is_a: DOID:4896 ! bile duct adenocarcinoma + +[Term] +id: DOID:3699 +name: uterine ligament mucinous adenocarcinoma +xref: NCI:C40137 +xref: UMLS_CUI:C1519869 +is_a: DOID:3700 ! uterine ligament adenocarcinoma + +[Term] +id: DOID:37 +name: skin disease +alt_id: DOID:1576 +alt_id: DOID:1698 +alt_id: DOID:187 +alt_id: DOID:6486 +alt_id: DOID:8948 +def: "An integumentary system disease that is located_in skin." [url:http\://en.wikipedia.org/wiki/Skin_disease] +synonym: "Dermatitis due to substances taken internally" EXACT [ICD9CM_2006:693] +synonym: "Dermatitis due to substances taken internally (disorder)" EXACT [SNOMEDCT_2005_07_31:13582007] +synonym: "Dermatitis due to Unspecified Substance taken Internally" EXACT [NCI2004_11_17:C35224] +synonym: "Dermatitis due to unspecified substance taken internally" EXACT [] +synonym: "Dermatitis due to unspecified substance taken internally (disorder)" EXACT [SNOMEDCT_2005_07_31:201367002] +synonym: "genetic skin disease" EXACT [] +synonym: "Genodermatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:239001006] +synonym: "Genodermatosis, NOS" EXACT [SNOMEDCT_2005_07_31:199879009, SNOMEDCT_2005_07_31:5613003] +synonym: "skin and subcutaneous tissue disease" EXACT [] +xref: ICD9CM:702 +xref: MSH:D012871 +xref: MSH:D012873 +xref: NCI:C27554 +xref: NCI:C3371 +xref: SNOMEDCT_US_2015_03_01:156292006 +xref: SNOMEDCT_US_2015_03_01:156396006 +xref: SNOMEDCT_US_2015_03_01:156400006 +xref: SNOMEDCT_US_2015_03_01:156445005 +xref: SNOMEDCT_US_2015_03_01:199879009 +xref: SNOMEDCT_US_2015_03_01:200580005 +xref: SNOMEDCT_US_2015_03_01:201095006 +xref: SNOMEDCT_US_2015_03_01:201107006 +xref: SNOMEDCT_US_2015_03_01:239001006 +xref: SNOMEDCT_US_2015_03_01:267806002 +xref: SNOMEDCT_US_2015_03_01:267859000 +xref: SNOMEDCT_US_2015_03_01:267860005 +xref: SNOMEDCT_US_2015_03_01:267873009 +xref: SNOMEDCT_US_2015_03_01:5613003 +xref: SNOMEDCT_US_2015_03_01:80659006 +xref: SNOMEDCT_US_2015_03_01:95320005 +xref: UMLS_CUI:C0029574 +xref: UMLS_CUI:C0037274 +xref: UMLS_CUI:C0037277 +is_a: DOID:16 ! integumentary system disease + +[Term] +id: DOID:370 +name: malignant olfactory nerve tumor +synonym: "malignant tumor of Olfactory nerve" EXACT [NCI2004_11_17:C4768] +synonym: "primary malignant neoplasm of olfactory nerve" EXACT [SNOMEDCT_2005_07_31:93930008] +is_obsolete: true + +[Term] +id: DOID:3700 +name: uterine ligament adenocarcinoma +xref: NCI:C40135 +xref: UMLS_CUI:C1519866 +is_a: DOID:5727 ! uterine ligament cancer + +[Term] +id: DOID:3701 +name: cervical mucinous adenocarcinoma +xref: NCI:C36095 +xref: UMLS_CUI:C1332919 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:3702 +name: cervical adenocarcinoma +def: "A cervix carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma cervix uteri" EXACT [SNOMEDCT_2005_07_31:269596006] +synonym: "adenocarcinoma cervix uteri" EXACT [SNOMEDCT_2005_07_31:154522004] +synonym: "adenocarcinoma of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:254887002] +synonym: "adenocarcinoma of the uterine Cervix" EXACT [NCI2004_11_17:C4029] +xref: NCI:C4029 +xref: SNOMEDCT_US_2015_03_01:154522004 +xref: SNOMEDCT_US_2015_03_01:254887002 +xref: SNOMEDCT_US_2015_03_01:269596006 +xref: UMLS_CUI:C0279672 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:3703 +name: prostate colloid adenocarcinoma +synonym: "acinar Colloid prostate adenocarcinoma" EXACT [NCI2004_11_17:C5537] +xref: NCI:C5537 +xref: UMLS_CUI:C1335513 +is_a: DOID:2526 ! prostate adenocarcinoma + +[Term] +id: DOID:3704 +name: fallopian tube mucinous adenocarcinoma +xref: NCI:C40103 +xref: UMLS_CUI:C1517119 +is_a: DOID:3706 ! fallopian tube adenocarcinoma + +[Term] +id: DOID:3705 +name: fallopian tube mucinous tumor +xref: NCI:C40109 +xref: UMLS_CUI:C1517120 +is_a: DOID:0060111 ! fallopian tube benign neoplasm + +[Term] +id: DOID:3706 +name: fallopian tube adenocarcinoma +def: "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6265] +xref: NCI:C6265 +xref: UMLS_CUI:C1333590 +is_a: DOID:1963 ! fallopian tube carcinoma + +[Term] +id: DOID:3707 +name: endometrial mucinous adenocarcinoma +synonym: "uterine Corpus mucinous adenocarcinoma" EXACT [NCI2004_11_17:C40144] +xref: NCI:C40144 +xref: UMLS_CUI:C1519859 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:3709 +name: rectum mucinous adenocarcinoma +synonym: "Colloidal adenocarcinoma of rectum" EXACT [NCI2004_11_17:C7973] +xref: NCI:C7973 +xref: UMLS_CUI:C0279652 +is_a: DOID:1996 ! rectum adenocarcinoma + +[Term] +id: DOID:371 +name: extracranial neuroblastoma +xref: NCI:C5437 +xref: UMLS_CUI:C1333499 +is_a: DOID:769 ! neuroblastoma + +[Term] +id: DOID:3710 +name: bladder colloid adenocarcinoma +xref: NCI:C39837 +xref: UMLS_CUI:C1511193 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:3711 +name: bladder adenocarcinoma +def: "A bladder carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:255110003] +synonym: "adenocarcinoma of the urinary bladder" EXACT [NCI2004_11_17:C4032] +synonym: "bladder adenocarcinoma, Not Otherwise Specified" EXACT [NCI2004_11_17:C39836] +xref: NCI:C39836 +xref: NCI:C4032 +xref: SNOMEDCT_US_2015_03_01:255110003 +xref: UMLS_CUI:C0279682 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:3713 +name: ovary adenocarcinoma +alt_id: DOID:7816 +def: "An ovarian carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the ovary" RELATED [] +synonym: "ovarian adenoacanthoma" EXACT [] +synonym: "Ovarian adenocarcinoma" EXACT [NCI2004_11_17:C7700] +xref: NCI:C7700 +xref: UMLS_CUI:C0948216 +is_a: DOID:4001 ! ovarian carcinoma + +[Term] +id: DOID:3715 +name: non-suppurative otitis media and eustachian tube disorder +def: "A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] +is_obsolete: true + +[Term] +id: DOID:3716 +name: mucinous stomach adenocarcinoma +synonym: "mucinous adenocarcinoma of the stomach" EXACT [NCI2004_11_17:C5248] +xref: NCI:C5248 +xref: UMLS_CUI:C1334809 +is_a: DOID:6217 ! gastric diffuse adenocarcinoma + +[Term] +id: DOID:3717 +name: gastric adenocarcinoma +def: "A stomach carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:408647009] +synonym: "stomach adenocarcinoma" EXACT [NCI2004_11_17:C4004] +xref: NCI:C4004 +xref: SNOMEDCT_US_2015_03_01:408647009 +xref: UMLS_CUI:C0278701 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:3718 +name: Arterivirus infectious disease +def: "A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." [url:http\://en.wikipedia.org/wiki/Arterivirus] +is_obsolete: true + +[Term] +id: DOID:3720 +name: extramedullary plasmacytoma +synonym: "Extramedullary plasmacytoma" EXACT [SNOMEDCT_2005_07_31:10639003] +synonym: "Extramedullary plasmacytoma (clinical)" EXACT [SNOMEDCT_2005_07_31:109987008] +synonym: "Extramedullary plasmacytoma (clinical)" EXACT [SNOMEDCT_2005_07_31:188718006] +synonym: "extraosseous plasmacytoma" EXACT [NCI2004_11_17:C4002] +synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [SNOMEDCT_2005_07_31:128921005] +xref: ICD10CM:C90.2 +xref: ICD10CM:C90.20 +xref: NCI:C4002 +xref: SNOMEDCT_US_2015_03_01:10639003 +xref: SNOMEDCT_US_2015_03_01:109987008 +xref: SNOMEDCT_US_2015_03_01:128921005 +xref: SNOMEDCT_US_2015_03_01:188718006 +xref: UMLS_CUI:C0278619 +is_a: DOID:3721 ! plasmacytoma + +[Term] +id: DOID:3721 +name: plasmacytoma +synonym: "Myeloma - solitary" EXACT [SNOMEDCT_2005_07_31:189507001] +synonym: "Myeloma, solitary" EXACT [SNOMEDCT_2005_07_31:269652000] +synonym: "Solitary myeloma" EXACT [MTHICD9_2006:238.6] +synonym: "Solitary plasmacytoma" EXACT [NCI2004_11_17:C6932] +xref: ICD10CM:C90.3 +xref: ICD10CM:C90.30 +xref: MSH:D010954 +xref: NCI:C6932 +xref: NCI:C9349 +xref: SNOMEDCT_US_2015_03_01:10639003 +xref: SNOMEDCT_US_2015_03_01:109987008 +xref: SNOMEDCT_US_2015_03_01:154644004 +xref: SNOMEDCT_US_2015_03_01:188719003 +xref: SNOMEDCT_US_2015_03_01:188720009 +xref: SNOMEDCT_US_2015_03_01:189507001 +xref: SNOMEDCT_US_2015_03_01:190016004 +xref: SNOMEDCT_US_2015_03_01:190017008 +xref: SNOMEDCT_US_2015_03_01:190019006 +xref: SNOMEDCT_US_2015_03_01:269652000 +xref: SNOMEDCT_US_2015_03_01:274907000 +xref: SNOMEDCT_US_2015_03_01:302852008 +xref: SNOMEDCT_US_2015_03_01:308122007 +xref: SNOMEDCT_US_2015_03_01:415112005 +xref: UMLS_CUI:C0032131 +is_a: DOID:6536 ! plasma cell neoplasm + +[Term] +id: DOID:3722 +name: solitary osseous plasmacytoma +synonym: "Isolated osseous plasmacytoma" EXACT [NCI2004_11_17:C7812] +synonym: "Solitary plasmacytoma of bone" EXACT [SNOMEDCT_2005_07_31:42215000] +xref: NCI:C7812 +xref: SNOMEDCT_US_2015_03_01:42215000 +xref: SNOMEDCT_US_2015_03_01:426336007 +xref: UMLS_CUI:C0272256 +is_a: DOID:3721 ! plasmacytoma + +[Term] +id: DOID:3723 +name: solitary plasmacytoma of chest wall +synonym: "Solitary plasmacytoma of the Chest Wall" EXACT [NCI2004_11_17:C6711] +xref: NCI:C6711 +xref: UMLS_CUI:C1332936 +is_a: DOID:3721 ! plasmacytoma + +[Term] +id: DOID:3726 +name: puerperal disease +synonym: "disorder of puerperium (disorder)" EXACT [SNOMEDCT_2005_07_31:362973001] +synonym: "disorder of the puerperium" EXACT [SNOMEDCT_2005_07_31:156262002] +synonym: "puerperal disorder" EXACT [CSP2005:2404-6473] +is_obsolete: true + +[Term] +id: DOID:3728 +name: acute allergic sanguinous otitis media +def: "A acute sanguinous otitis media caused by an allergen." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] +synonym: "acute allergic sanguinous otitis media (disorder)" EXACT [SNOMEDCT_2005_07_31:17866004] +xref: ICD9CM:381.06 +xref: SNOMEDCT_US_2015_03_01:17866004 +xref: SNOMEDCT_US_2015_03_01:194243008 +xref: UMLS_CUI:C0155420 +is_a: DOID:3696 ! acute sanguinous otitis media + +[Term] +id: DOID:3729 +name: Respirovirus infectious disease +def: "A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." [url:http\://expasy.org/viralzone/all_by_species/87.html] +synonym: "disease due to Paramyxovirus (disorder)" EXACT [SNOMEDCT_2005_07_31:84118005] +is_obsolete: true + +[Term] +id: DOID:373 +name: infant nutrition disorder +synonym: "infant nutrition disorder" EXACT [CSP2005:2116-7820] +is_obsolete: true + +[Term] +id: DOID:3730 +name: pneumonic pasteurellosis +def: "A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Pneumonic pasteurellosis" EXACT [SNOMEDCT_2005_07_31:61532009] +is_obsolete: true + +[Term] +id: DOID:3731 +name: primary Pasteurellaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3732 +name: bovine respiratory disease complex +def: "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm, url:http\://www.jstor.org/stable/pdfplus/1349519.pdf] +is_obsolete: true + +[Term] +id: DOID:3733 +name: theileriasis +def: "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." [url:http\://en.wikipedia.org/wiki/East_Coast_fever] +subset: tick-borne_infectious_disease +synonym: "Infection by Theileria (disorder)" EXACT [SNOMEDCT_2005_07_31:68771000] +synonym: "theileriosis" EXACT [] +xref: MSH:D013801 +xref: SNOMEDCT_US_2015_03_01:68771000 +xref: UMLS_CUI:C0039753 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:3737 +name: verrucous carcinoma +def: "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." [url:http\://en.wikipedia.org/wiki/Verrucous_carcinoma] +synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189563000] +synonym: "verrucous squamous carcinoma" EXACT [NCI2004_11_17:C3781] +synonym: "verrucous squamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403904009] +synonym: "Warty carcinoma" EXACT [SNOMEDCT_2005_07_31:89906000] +synonym: "Warty carcinoma" EXACT [SNOMEDCT_2005_07_31:399408005] +xref: MSH:D018289 +xref: NCI:C3781 +xref: SNOMEDCT_US_2015_03_01:189563000 +xref: SNOMEDCT_US_2015_03_01:403904009 +xref: SNOMEDCT_US_2015_03_01:89906000 +xref: UMLS_CUI:C0206706 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:3739 +name: human papillomavirus related squamous cell carcinoma +def: "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] +synonym: "HPV-Related squamous cell carcinoma" EXACT [NCI2004_11_17:C27683] +is_obsolete: true + +[Term] +id: DOID:374 +name: nutrition disease +def: "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods." [url:http\://www.who.int/topics/nutrition_disorders/en/] +synonym: "Nutritional disorder" EXACT [NCI2004_11_17:C26836] +xref: MSH:D009748 +xref: NCI:C26836 +xref: SNOMEDCT_US_2015_03_01:191077005 +xref: SNOMEDCT_US_2015_03_01:2492009 +xref: UMLS_CUI:C3714509 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:3740 +name: vulva verrucous carcinoma +synonym: "verrucous carcinoma of Vulva" EXACT [NCI2004_11_17:C6383] +xref: NCI:C6383 +xref: UMLS_CUI:C1336983 +is_a: DOID:2101 ! vulva squamous cell carcinoma + +[Term] +id: DOID:3741 +name: bladder verrucous squamous cell carcinoma +xref: NCI:C39832 +xref: UMLS_CUI:C1511208 +is_a: DOID:3742 ! bladder squamous cell carcinoma + +[Term] +id: DOID:3742 +name: bladder squamous cell carcinoma +def: "A carcinoma of bladder that is manifested in squamous cells of the bladder." [url:http\://www.cancer.gov/cancertopics/types/bladder] +synonym: "Epidermoid carcinoma of the urinary bladder" EXACT [NCI2004_11_17:C4031] +synonym: "squamous cell carcinoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:255111004] +xref: NCI:C4031 +xref: SNOMEDCT_US_2015_03_01:255111004 +xref: UMLS_CUI:C0279681 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:3743 +name: cervical verrucous carcinoma +xref: NCI:C40190 +xref: UMLS_CUI:C1516435 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:3744 +name: cervical squamous cell carcinoma +def: "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=752829] +subset: DO_cancer_slim +synonym: "squamous cell carcinoma of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:254886006] +synonym: "squamous cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C4028] +xref: NCI:C4028 +xref: SNOMEDCT_US_2015_03_01:254886006 +xref: UMLS_CUI:C0279671 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:3747 +name: esophagus verrucous carcinoma +synonym: "verrucous carcinoma of esophagus" EXACT [NCI2004_11_17:C27420] +synonym: "verrucous carcinoma of the esophagus" RELATED [] +xref: NCI:C27420 +xref: UMLS_CUI:C1333470 +is_a: DOID:3748 ! esophagus squamous cell carcinoma + +[Term] +id: DOID:3748 +name: esophagus squamous cell carcinoma +def: "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." [url:http\://www.cancer.gov/cancertopics/types/esophageal] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "SCC of esophagus" EXACT [NCI2004_11_17:C4024] +synonym: "squamous cell carcinoma of esophagus" RELATED [] +synonym: "squamous cell carcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:276804009] +xref: MSH:C562729 +xref: NCI:C4024 +xref: OMIM:133239 +xref: SNOMEDCT_US_2015_03_01:276804009 +xref: UMLS_CUI:C0279626 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:3749 +name: urethral verrucous carcinoma +xref: NCI:C39874 +xref: UMLS_CUI:C1519827 +is_a: DOID:3750 ! urethra squamous cell carcinoma + +[Term] +id: DOID:3750 +name: urethra squamous cell carcinoma +def: "A cancer of urethra that shows squamous cell differentiation." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] +synonym: "urethral Epidermoid carcinoma" EXACT [NCI2004_11_17:C6165] +xref: NCI:C6165 +xref: UMLS_CUI:C1336890 +is_a: DOID:734 ! urethra cancer + +[Term] +id: DOID:3751 +name: plantar verrucous skin carcinoma +xref: NCI:C6811 +xref: UMLS_CUI:C1335424 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:3752 +name: larynx verrucous carcinoma +synonym: "verrucous carcinoma of the Larynx" EXACT [NCI2004_11_17:C8188] +xref: NCI:C8188 +xref: UMLS_CUI:C0280328 +is_a: DOID:2876 ! laryngeal squamous cell carcinoma + +[Term] +id: DOID:3753 +name: Hermansky-Pudlak syndrome +def: "An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." [url:http\://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, url:http\://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [CSP2005:0446-1413] +xref: ICD10CM:E70.331 +xref: MSH:D022861 +xref: NCI:C37261 +xref: OMIM:203300 +xref: OMIM:608233 +xref: OMIM:614072 +xref: OMIM:614073 +xref: OMIM:614074 +xref: OMIM:614075 +xref: OMIM:614076 +xref: OMIM:614077 +xref: OMIM:614171 +xref: ORDO:231531 +xref: ORDO:231537 +xref: ORDO:280663 +xref: ORDO:79430 +xref: SNOMEDCT_US_2015_03_01:190697008 +xref: SNOMEDCT_US_2015_03_01:60255003 +xref: SNOMEDCT_US_2015_03_01:9311003 +xref: UMLS_CUI:C0079504 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:3755 +name: antithrombin III deficiency +def: "An inherited blood coagulation disease characterized by the tendency to form clots in the veins." [url:http\://en.wikipedia.org/wiki/Antithrombin_III_deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "AT III deficiency" EXACT [] +synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [] +xref: ICD10CM:D68.59 +xref: MSH:D020152 +xref: NCI:C98815 +xref: OMIM:613118 +xref: SNOMEDCT_US_2015_03_01:36351005 +xref: UMLS_CUI:C0272375 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:3756 +name: protein C deficiency +xref: ICD10CM:D68.59 +xref: MSH:D020151 +xref: NCI:C99025 +xref: SNOMEDCT_US_2015_03_01:76407009 +xref: UMLS_CUI:C0398625 +is_a: DOID:2214 ! inherited blood coagulation disease + +[Term] +id: DOID:3758 +name: Fusobacterium infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:3762 +name: cytochrome-c oxidase deficiency disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MITOCHONDRIAL COMPLEX IV DEFICIENCY" EXACT [] +xref: MSH:D030401 +xref: NCI:C98910 +xref: OMIM:220110 +xref: SNOMEDCT_US_2015_03_01:124199009 +xref: SNOMEDCT_US_2015_03_01:237991006 +xref: SNOMEDCT_US_2015_03_01:67434000 +xref: UMLS_CUI:C0268237 +is_a: DOID:700 ! mitochondrial metabolism disease + +[Term] +id: DOID:3763 +name: hermaphroditism +xref: MSH:D012734 +xref: NCI:C45909 +xref: SNOMEDCT_US_2015_03_01:237821001 +xref: SNOMEDCT_US_2015_03_01:52572004 +xref: UMLS_CUI:C0019269 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:3764 +name: Denys-Drash syndrome +def: "An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D030321 +xref: NCI:C84668 +xref: OMIM:194080 +xref: SNOMEDCT_US_2015_03_01:236385009 +xref: UMLS_CUI:C0950121 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:3765 +name: pseudohermaphroditism +alt_id: DOID:11226 +synonym: "Indeterminate sex and pseudohermaphroditism" EXACT [] +xref: ICD10CM:Q56 +xref: ICD10CM:Q56.3 +xref: ICD9CM:752.7 +xref: MSH:D012734 +xref: SNOMEDCT_US_2015_03_01:204895009 +xref: SNOMEDCT_US_2015_03_01:204897001 +xref: SNOMEDCT_US_2015_03_01:268229003 +xref: SNOMEDCT_US_2015_03_01:268328009 +xref: SNOMEDCT_US_2015_03_01:75164001 +xref: UMLS_CUI:C0021193 +xref: UMLS_CUI:C0033804 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:3766 +name: leukorrhea +synonym: "discharge - leukorrhea" EXACT [SNOMEDCT_2005_07_31:156017008] +synonym: "discharge - leukorrhea" EXACT [SNOMEDCT_2005_07_31:266664009] +synonym: "Leukorrhagia (finding)" EXACT [SNOMEDCT_2005_07_31:11057009] +synonym: "LEUKORRHEA" EXACT [MTH:NOCODE] +synonym: "Leukorrhea (finding)" EXACT [SNOMEDCT_2005_07_31:237101004] +synonym: "Leukorrhea (finding) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:70856007] +synonym: "Leukorrhea NOS of vagina" EXACT [MTHICD9_2006:623.5] +synonym: "Leukorrhoea" EXACT [SNOMEDCT_2005_07_31:278070007] +xref: ICD10CM:N89.8 +xref: MSH:D007973 +xref: NCI:C34775 +xref: SNOMEDCT_US_2015_03_01:11057009 +xref: SNOMEDCT_US_2015_03_01:156017008 +xref: SNOMEDCT_US_2015_03_01:237101004 +xref: SNOMEDCT_US_2015_03_01:266664009 +xref: SNOMEDCT_US_2015_03_01:278070007 +xref: SNOMEDCT_US_2015_03_01:289552002 +xref: SNOMEDCT_US_2015_03_01:70856007 +xref: UMLS_CUI:C0023533 +is_a: DOID:3767 ! vaginal discharge + +[Term] +id: DOID:3767 +name: vaginal discharge +xref: MSH:D019522 +xref: NCI:C50795 +xref: SNOMEDCT_US_2015_03_01:139439007 +xref: SNOMEDCT_US_2015_03_01:162159008 +xref: SNOMEDCT_US_2015_03_01:198369007 +xref: SNOMEDCT_US_2015_03_01:271939006 +xref: SNOMEDCT_US_2015_03_01:70856007 +xref: UMLS_CUI:C0227791 +is_a: DOID:121 ! vaginal disease + +[Term] +id: DOID:3770 +name: pulmonary fibrosis +synonym: "Fibrosis of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:51615001] +xref: MSH:D011658 +xref: NCI:C26869 +xref: SNOMEDCT_US_2015_03_01:155613001 +xref: SNOMEDCT_US_2015_03_01:196121006 +xref: SNOMEDCT_US_2015_03_01:51615001 +xref: UMLS_CUI:C0034069 +is_a: DOID:3082 ! interstitial lung disease + +[Term] +id: DOID:3772 +name: intraventricular meningioma +xref: MSH:D008579 +xref: NCI:C5273 +xref: UMLS_CUI:C1334271 +is_a: DOID:3541 ! cerebral ventricle cancer +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:3773 +name: third ventricle chordoid glioma +synonym: "Chordoid glioma of 3rd Ventricle" EXACT [NCI2004_11_17:C6961] +synonym: "Chordoid glioma of third ventricle" EXACT [SNOMEDCT_2005_07_31:128789002] +xref: NCI:C5592 +xref: SNOMEDCT_US_2015_03_01:128789002 +xref: UMLS_CUI:C1322252 +is_a: DOID:3541 ! cerebral ventricle cancer + +[Term] +id: DOID:3774 +name: chordoid glioma +synonym: "Chordoid glioma" EXACT [NCI2004_11_17:C5592] +synonym: "Chordoid glioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128789002] +xref: NCI:C5592 +xref: SNOMEDCT_US_2015_03_01:128789002 +xref: UMLS_CUI:C1322252 +is_a: DOID:3070 ! malignant glioma + +[Term] +id: DOID:3777 +name: granuloma annulare +synonym: "Granuloma annulare" EXACT [SNOMEDCT_2005_07_31:200953005] +synonym: "Granuloma annulare (disorder)" EXACT [SNOMEDCT_2005_07_31:65508009] +synonym: "Granulome annulare" EXACT [SNOMEDCT_2005_07_31:267850001] +synonym: "Granulome annulare" EXACT [SNOMEDCT_2005_07_31:156368000] +xref: ICD10CM:L92.0 +xref: MSH:D016460 +xref: NCI:C3470 +xref: SNOMEDCT_US_2015_03_01:156368000 +xref: SNOMEDCT_US_2015_03_01:200953005 +xref: SNOMEDCT_US_2015_03_01:267850001 +xref: SNOMEDCT_US_2015_03_01:65508009 +xref: UMLS_CUI:C0085074 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:3781 +name: anovulation +synonym: "Anovulation (finding)" EXACT [SNOMEDCT_2005_07_31:34571000] +xref: MSH:D000858 +xref: NCI:C34388 +xref: SNOMEDCT_US_2015_03_01:34571000 +xref: UMLS_CUI:C0003128 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:3783 +name: Coffin-Lowry syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Coffin-Lowry syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:15182000] +xref: MSH:D038921 +xref: NCI:C84643 +xref: OMIM:303600 +xref: SNOMEDCT_US_2015_03_01:15182000 +xref: UMLS_CUI:C0265252 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:379 +name: external ear disease +alt_id: DOID:13122 +alt_id: DOID:835 +synonym: "Preauricular cyst" EXACT [] +synonym: "Preauricular cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:18820007] +synonym: "Preauricular sinus and fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:204270004] +synonym: "Preauricular sinus or fistula" EXACT [] +synonym: "Preauricular sinus or fistula NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204273002] +xref: ICD10CM:H60-H62 +xref: ICD10CM:H61.9 +xref: ICD9CM:380 +xref: ICD9CM:380.9 +xref: NCI:C26972 +xref: SNOMEDCT_US_2015_03_01:155209003 +xref: SNOMEDCT_US_2015_03_01:155216002 +xref: SNOMEDCT_US_2015_03_01:194236002 +xref: SNOMEDCT_US_2015_03_01:194664001 +xref: SNOMEDCT_US_2015_03_01:267751009 +xref: SNOMEDCT_US_2015_03_01:49130001 +xref: UMLS_CUI:C0155388 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:3798 +name: pleural empyema +alt_id: DOID:11023 +alt_id: DOID:13630 +alt_id: DOID:14304 +def: "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath." [url:http\://en.wikipedia.org/wiki/Pleural_empyema, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh] +comment: Updating outdated UMLS CUI. +synonym: "abscess of pleural cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:405951008] +synonym: "abscess of thorax (disorder)" EXACT [SNOMEDCT_2005_07_31:69947005] +synonym: "abscess of thorax (disorder)" EXACT [SNOMEDCT_2005_07_31:405950009] +synonym: "empyema" EXACT [] +synonym: "Empyema (& pleural)" EXACT [SNOMEDCT_2005_07_31:196058009] +synonym: "Empyema (disorder)" EXACT [SNOMEDCT_2005_07_31:312682007] +synonym: "Empyema (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:66696003] +synonym: "Empyema NOS" EXACT [SNOMEDCT_2005_07_31:196074004] +synonym: "Empyema NOS (& pleural)" EXACT [SNOMEDCT_2005_07_31:196074004] +synonym: "Empyema of pleura (disorder)" EXACT [SNOMEDCT_2005_07_31:58554001] +synonym: "Empyema of pleura without fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:15995006] +synonym: "Empyema with fistula" EXACT [NCI2004_11_17:C34573] +synonym: "empyema with fistula" EXACT [] +synonym: "Empyema with fistula (& pleural)" EXACT [SNOMEDCT_2005_07_31:196059001] +synonym: "Empyema with fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:41354004] +synonym: "Empyema with fistula NOS (& pleural)" EXACT [SNOMEDCT_2005_07_31:196065001] +synonym: "Empyema with no fistula" EXACT [SNOMEDCT_2005_07_31:196066000] +synonym: "Empyema with no fistula NOS" EXACT [SNOMEDCT_2005_07_31:196073005] +synonym: "Empyema with pleural fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:43570006] +synonym: "Empyema with pleural fistula NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196063008] +synonym: "Empyema with thoracic fistula NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196064002] +synonym: "Empyema without mention of fistula" EXACT [ICD9CM_2006:510.9] +synonym: "Empyema, chest" EXACT [MTHICD9_2006:510.9] +synonym: "lung empyema NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196070008] +synonym: "Pleural empyema" EXACT [SNOMEDCT_2005_07_31:196069007] +synonym: "Pleural empyema" EXACT [SNOMEDCT_2005_07_31:196071007] +synonym: "Pleural empyema" EXACT [SNOMEDCT_2005_07_31:196072000] +synonym: "Pleural empyema" EXACT [SNOMEDCT_2005_07_31:155604003] +synonym: "Pleural empyema (disorder)" EXACT [SNOMEDCT_2005_07_31:271502000] +synonym: "Pleural empyema NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:271506002] +synonym: "Pleural empyema with fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:271503005] +synonym: "pleural empyema with no fistula" EXACT [] +synonym: "Pleural empyema with no fistula (disorder)" EXACT [SNOMEDCT_2005_07_31:271504004] +synonym: "pulmonary Empyema" EXACT [NCI2004_11_17:C34574] +synonym: "Purulent pleurisy (disorder)" EXACT [SNOMEDCT_2005_07_31:75952005] +synonym: "purulent pleuritis" EXACT [] +synonym: "pyothorax" EXACT [] +synonym: "Thorax abscess NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196068004] +xref: ICD10CM:J86 +xref: ICD10CM:J86.9 +xref: MSH:D016724 +xref: NCI:C45692 +xref: SNOMEDCT_US_2015_03_01:155604003 +xref: SNOMEDCT_US_2015_03_01:196058009 +xref: SNOMEDCT_US_2015_03_01:196068004 +xref: SNOMEDCT_US_2015_03_01:196069007 +xref: SNOMEDCT_US_2015_03_01:196070008 +xref: SNOMEDCT_US_2015_03_01:196071007 +xref: SNOMEDCT_US_2015_03_01:196072000 +xref: SNOMEDCT_US_2015_03_01:196074004 +xref: SNOMEDCT_US_2015_03_01:271502000 +xref: SNOMEDCT_US_2015_03_01:271506002 +xref: SNOMEDCT_US_2015_03_01:405950009 +xref: SNOMEDCT_US_2015_03_01:405951008 +xref: SNOMEDCT_US_2015_03_01:58554001 +xref: SNOMEDCT_US_2015_03_01:69947005 +xref: SNOMEDCT_US_2015_03_01:75952005 +xref: UMLS_CUI:C0014013 +is_a: DOID:1532 ! pleural disease + +[Term] +id: DOID:3799 +name: feline panleukopenia +def: "A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting." [url:http\://en.wikipedia.org/wiki/Feline_panleukopenia] +synonym: "Feline panleukemia" EXACT [SNOMEDCT_2005_07_31:29386004] +is_obsolete: true + +[Term] +id: DOID:3800 +name: avian leukosis +def: "A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm] +synonym: "Tumor Virus Infections" RELATED [] +is_obsolete: true + +[Term] +id: DOID:3803 +name: Crigler-Najjar syndrome +def: "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)." [url:http\://emedicine.medscape.com/article/172858-overview#a0104, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002114/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Bilirubin UDP glucuronyl transferase deficiency" EXACT [SNOMEDCT_2005_07_31:190933008] +synonym: "Crigler Najjar syndrome" EXACT [CSP2005:1654-1020] +synonym: "Crigler-Najjar syndrome, type I (disorder)" EXACT [SNOMEDCT_2005_07_31:8933000] +xref: ICD10CM:E80.5 +xref: MSH:D003414 +xref: NCI:C84656 +xref: OMIM:218800 +xref: SNOMEDCT_US_2015_03_01:190933008 +xref: SNOMEDCT_US_2015_03_01:28259009 +xref: SNOMEDCT_US_2015_03_01:8933000 +xref: UMLS_CUI:C0010324 +is_a: DOID:2741 ! bilirubin metabolic disorder + +[Term] +id: DOID:3805 +name: porokeratosis +alt_id: DOID:8668 +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Disseminated superficial actinic porokeratosis" EXACT [SNOMEDCT_2005_07_31:201086003] +synonym: "disseminated superficial actinic porokeratosis" EXACT [] +synonym: "Disseminated superficial actinic porokeratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:41495000] +synonym: "disseminated superficial actinic porokeratosis (DSAP)" EXACT [] +synonym: "Porokeratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:400080004] +synonym: "Porokeratosis, NOS" EXACT [SNOMEDCT_2005_07_31:80432009] +xref: ICD10CM:L56.5 +xref: ICD9CM:692.75 +xref: MSH:D017499 +xref: NCI:C85019 +xref: OMIM:175800 +xref: SNOMEDCT_US_2015_03_01:201086003 +xref: SNOMEDCT_US_2015_03_01:238630009 +xref: SNOMEDCT_US_2015_03_01:400080004 +xref: SNOMEDCT_US_2015_03_01:41495000 +xref: SNOMEDCT_US_2015_03_01:80432009 +xref: UMLS_CUI:C0162839 +xref: UMLS_CUI:C0265970 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:3809 +name: epidural spinal canal meningioma +xref: NCI:C5310 +xref: UMLS_CUI:C1333417 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:381 +name: arthropathy +alt_id: DOID:13871 +alt_id: DOID:13960 +alt_id: DOID:1843 +alt_id: DOID:1903 +alt_id: DOID:226 +alt_id: DOID:2317 +alt_id: DOID:2318 +alt_id: DOID:546 +alt_id: DOID:9489 +def: "A bone inflammation disease that is located_in joint." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Arthropathy] +synonym: "ankylosis of ankle and foot joint" EXACT [] +synonym: "ankylosis of forearm joint" EXACT [] +synonym: "ankylosis of hand joint" EXACT [] +synonym: "Ankylosis of joint of ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:57137004] +synonym: "Ankylosis of joint of forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:39147002] +synonym: "Ankylosis of joint of hand (disorder)" EXACT [SNOMEDCT_2005_07_31:56923001] +synonym: "Ankylosis of joint of lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:43534008] +synonym: "ankylosis of joint of multiple sites" EXACT [] +synonym: "Ankylosis of joint of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:90242006] +synonym: "ankylosis of joint of pelvic region and thigh" EXACT [] +synonym: "ankylosis of joint of shoulder region" EXACT [] +synonym: "Ankylosis of joint of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:2890007] +synonym: "Ankylosis of joint of upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:9064009] +synonym: "ankylosis of lower leg joint" EXACT [] +synonym: "Ankylosis of multiple joints" EXACT [SNOMEDCT_2005_07_31:156560006] +synonym: "ankylosis of upper arm joint" EXACT [] +synonym: "Infectious arthropathy" EXACT [] +synonym: "Joint ankylosis of the ankle and foot" EXACT [SNOMEDCT_2005_07_31:156567009, SNOMEDCT_2005_07_31:202304009] +synonym: "Joint ankylosis of the ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:267936005] +synonym: "Joint ankylosis of the forearm" EXACT [SNOMEDCT_2005_07_31:202300000] +synonym: "Joint ankylosis of the forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:267933002] +synonym: "Joint ankylosis of the hand" EXACT [SNOMEDCT_2005_07_31:156564002] +synonym: "Joint ankylosis of the lower leg" EXACT [SNOMEDCT_2005_07_31:202303003] +synonym: "Joint ankylosis of the lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:267935009] +synonym: "Joint ankylosis of the pelvic region and thigh" EXACT [SNOMEDCT_2005_07_31:202301001] +synonym: "Joint ankylosis of the pelvic region and thigh (disorder)" EXACT [SNOMEDCT_2005_07_31:267934008] +synonym: "Joint ankylosis of the shoulder region" EXACT [SNOMEDCT_2005_07_31:156561005] +synonym: "Joint ankylosis of the shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:202298000] +synonym: "Joint ankylosis of the upper arm" EXACT [SNOMEDCT_2005_07_31:202299008] +synonym: "Joint ankylosis of the upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:267932007] +xref: ICD10CM:M00-M02 +xref: ICD10CM:M12.9 +xref: ICD10CM:M19.90 +xref: ICD10CM:M25.9 +xref: ICD9CM:711 +xref: ICD9CM:716.9 +xref: ICD9CM:716.90 +xref: ICD9CM:719.9 +xref: ICD9CM:719.90 +xref: MSH:D007592 +xref: NCI:C35760 +xref: NCI:C78402 +xref: SNOMEDCT_US_2015_03_01:156508002 +xref: SNOMEDCT_US_2015_03_01:156514009 +xref: SNOMEDCT_US_2015_03_01:156616003 +xref: SNOMEDCT_US_2015_03_01:196415003 +xref: SNOMEDCT_US_2015_03_01:201455003 +xref: SNOMEDCT_US_2015_03_01:202059001 +xref: SNOMEDCT_US_2015_03_01:202061005 +xref: SNOMEDCT_US_2015_03_01:202073005 +xref: SNOMEDCT_US_2015_03_01:202634006 +xref: SNOMEDCT_US_2015_03_01:202635007 +xref: SNOMEDCT_US_2015_03_01:202645009 +xref: SNOMEDCT_US_2015_03_01:202647001 +xref: SNOMEDCT_US_2015_03_01:203721006 +xref: SNOMEDCT_US_2015_03_01:203747002 +xref: SNOMEDCT_US_2015_03_01:227588009 +xref: SNOMEDCT_US_2015_03_01:267888004 +xref: SNOMEDCT_US_2015_03_01:267904003 +xref: SNOMEDCT_US_2015_03_01:268051001 +xref: SNOMEDCT_US_2015_03_01:268056006 +xref: SNOMEDCT_US_2015_03_01:268070006 +xref: SNOMEDCT_US_2015_03_01:363162000 +xref: SNOMEDCT_US_2015_03_01:371412008 +xref: SNOMEDCT_US_2015_03_01:396233005 +xref: SNOMEDCT_US_2015_03_01:396275006 +xref: SNOMEDCT_US_2015_03_01:399269003 +xref: SNOMEDCT_US_2015_03_01:48548006 +xref: SNOMEDCT_US_2015_03_01:80843008 +xref: SNOMEDCT_US_2015_03_01:8316001 +xref: SNOMEDCT_US_2015_03_01:83486002 +xref: UMLS_CUI:C0022408 +xref: UMLS_CUI:C0157749 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:3810 +name: chondrogenic neoplasm +synonym: "cartilage neoplasm" EXACT [CSP2005:2019-1220] +synonym: "Chondromatous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189884000] +synonym: "Chondromatous neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189889005] +synonym: "Chondromatous tumor" EXACT [NCI2004_11_17:C4755] +is_obsolete: true + +[Term] +id: DOID:3812 +name: mediastinum chondroma +synonym: "Chondroma of mediastinum" EXACT [NCI2004_11_17:C6596] +is_obsolete: true + +[Term] +id: DOID:3813 +name: central nervous system chondroma +synonym: "Chondroma of the CNS" EXACT [NCI2004_11_17:C7001] +xref: NCI:C7001 +xref: UMLS_CUI:C1333019 +is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor + +[Term] +id: DOID:3814 +name: extraskeletal chondroma +is_a: DOID:0060123 ! connective tissue benign neoplasm + +[Term] +id: DOID:3816 +name: glossopharyngeal nerve paralysis +xref: NCI:C27335 +xref: UMLS_CUI:C0919940 +is_a: DOID:3418 ! glossopharyngeal nerve disease +is_a: DOID:3817 ! cranial nerve palsy + +[Term] +id: DOID:3817 +name: cranial nerve palsy +synonym: "Cranial nerve palsy" EXACT [SNOMEDCT_2005_07_31:73013002] +synonym: "Cranial nerve Paralysis" EXACT [NCI2004_11_17:C26941] +xref: MSH:D003389 +xref: NCI:C26941 +xref: SNOMEDCT_US_2015_03_01:73013002 +xref: UMLS_CUI:C0151311 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:3818 +name: photoallergic dermatitis +synonym: "Photoallergic contact dermatitis" EXACT [SNOMEDCT_2005_07_31:238524002] +synonym: "Photoallergic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111209006] +synonym: "Photoallergic eczema" EXACT [SNOMEDCT_2005_07_31:367334003] +synonym: "Photoallergic eczema" EXACT [SNOMEDCT_2005_07_31:238523008] +xref: MSH:D017454 +xref: SNOMEDCT_US_2015_03_01:111209006 +xref: SNOMEDCT_US_2015_03_01:238523008 +xref: SNOMEDCT_US_2015_03_01:238524002 +xref: SNOMEDCT_US_2015_03_01:367334003 +xref: UMLS_CUI:C0162824 +is_a: DOID:3042 ! allergic contact dermatitis +is_a: DOID:3159 ! photosensitivity disease + +[Term] +id: DOID:3819 +name: toxicodendron dermatitis +synonym: "Contact dermatitis due to Genus Toxicodendron" EXACT [SNOMEDCT_2005_07_31:410049000] +synonym: "Rhus dermatitis" EXACT [CSP2005:2716-6989] +xref: MSH:D011040 +xref: SNOMEDCT_US_2015_03_01:410049000 +xref: UMLS_CUI:C0032342 +is_a: DOID:3042 ! allergic contact dermatitis + +[Term] +id: DOID:3820 +name: primary Chlamydiaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "chlamydiaceae infection" EXACT [CSP2005:0638-2797] +is_obsolete: true + +[Term] +id: DOID:3821 +name: posterior cerebral artery infarction +xref: MSH:D020762 +xref: UMLS_CUI:C0752132 +is_a: DOID:3526 ! cerebral infarction +is_a: DOID:3527 ! cerebral arterial disease + +[Term] +id: DOID:3825 +name: Shwartzman phenomenon +synonym: "Shwartzman reaction (function)" EXACT [SNOMEDCT_2005_07_31:24453002] +xref: MSH:D012790 +xref: SNOMEDCT_US_2015_03_01:24453002 +xref: UMLS_CUI:C0037018 +is_a: DOID:484 ! vascular hemostatic disease +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:3827 +name: congenital diaphragmatic hernia +def: "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." [url:http\://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia, url:http\://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Diaphragmatic Hernia" EXACT [NCI2004_11_17:C34687] +xref: ICD10CM:K44 +xref: ICD10CM:K44.9 +xref: MSH:D006548 +xref: NCI:C34687 +xref: OMIM:142340 +xref: OMIM:222400 +xref: OMIM:610187 +xref: ORDO:2140 +xref: SNOMEDCT_US_2015_03_01:155748004 +xref: SNOMEDCT_US_2015_03_01:155750007 +xref: SNOMEDCT_US_2015_03_01:196901006 +xref: SNOMEDCT_US_2015_03_01:196911004 +xref: SNOMEDCT_US_2015_03_01:196912006 +xref: SNOMEDCT_US_2015_03_01:266444006 +xref: SNOMEDCT_US_2015_03_01:266511003 +xref: SNOMEDCT_US_2015_03_01:39839004 +xref: UMLS_CUI:C0019284 +is_a: DOID:10481 ! diaphragm disease + +[Term] +id: DOID:3828 +name: chromophobe adenoma +synonym: "Chromophobe adenoma of the Pituitary gland" EXACT [NCI2004_11_17:C2857] +xref: MSH:D000238 +xref: NCI:C2857 +xref: SNOMEDCT_US_2015_03_01:37039006 +xref: UMLS_CUI:C0001432 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:3829 +name: pituitary adenoma +synonym: "adenoma of the Pituitary gland" EXACT [NCI2004_11_17:C3329] +xref: MSH:D010911 +xref: NCI:C3329 +xref: SNOMEDCT_US_2015_03_01:128664001 +xref: SNOMEDCT_US_2015_03_01:154621002 +xref: SNOMEDCT_US_2015_03_01:189178001 +xref: SNOMEDCT_US_2015_03_01:254956000 +xref: SNOMEDCT_US_2015_03_01:269643009 +xref: SNOMEDCT_US_2015_03_01:367095008 +xref: UMLS_CUI:C0032000 +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:3836 +name: posttransplantation lymphoproliferative disease +is_obsolete: true + +[Term] +id: DOID:3837 +name: benign lymphoproliferative disease +is_obsolete: true + +[Term] +id: DOID:3838 +name: skin lymphoproliferative disease +synonym: "Lymphoproliferative disorder of skin" EXACT [NCI2004_11_17:C7614] +is_obsolete: true + +[Term] +id: DOID:384 +name: Wolff-Parkinson-White syndrome +alt_id: DOID:10392 +comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping confirmed by DO. [SN]. +synonym: "Anomalous A-V excitation" EXACT [SNOMEDCT_2005_07_31:266304003] +synonym: "anomalous atrioventricular excitation" EXACT [] +synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [SNOMEDCT_2005_07_31:251115003] +xref: ICD10CM:I45.6 +xref: ICD9CM:426.7 +xref: MSH:D014927 +xref: NCI:C35132 +xref: OMIM:194200 +xref: SNOMEDCT_US_2015_03_01:155360000 +xref: SNOMEDCT_US_2015_03_01:17869006 +xref: SNOMEDCT_US_2015_03_01:195057009 +xref: SNOMEDCT_US_2015_03_01:195061003 +xref: SNOMEDCT_US_2015_03_01:251115003 +xref: SNOMEDCT_US_2015_03_01:266304003 +xref: SNOMEDCT_US_2015_03_01:74390002 +xref: UMLS_CUI:C0043202 +xref: UMLS_CUI:C0392470 +is_a: DOID:10273 ! heart conduction disease + +[Term] +id: DOID:3840 +name: craniopharyngioma +synonym: "craniopharyngioma (disorder)" EXACT [SNOMEDCT_2005_07_31:189179009] +synonym: "craniopharyngioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:40009002] +synonym: "neoplasm of Rathke's Pouch" EXACT [NCI2004_11_17:C2964] +xref: MSH:D003397 +xref: NCI:C2964 +xref: SNOMEDCT_US_2015_03_01:189179009 +xref: SNOMEDCT_US_2015_03_01:40009002 +xref: UMLS_CUI:C0010276 +is_a: DOID:0060090 ! central nervous system organ benign neoplasm + +[Term] +id: DOID:3842 +name: skull base neoplasm +synonym: "tumors of Skull Base" EXACT [NCI2004_11_17:C4676] +xref: MSH:D019292 +xref: NCI:C4676 +xref: UMLS_CUI:C0376527 +is_a: DOID:1863 ! skull cancer + +[Term] +id: DOID:3843 +name: diencephalic neoplasm +alt_id: DOID:6097 +synonym: "malignant diencephalic neoplasm" EXACT [] +synonym: "malignant Diencephalic tumor" EXACT [NCI2004_11_17:C5126] +synonym: "tumor of Diencephalon" EXACT [NCI2004_11_17:C5125] +xref: NCI:C5125 +xref: NCI:C5126 +xref: UMLS_CUI:C1333286 +xref: UMLS_CUI:C1334576 +is_a: DOID:1659 ! supratentorial cancer + +[Term] +id: DOID:3844 +name: pediatric craniopharyngioma +synonym: "pediatric Rathke's Pouch tumor" EXACT [NCI2004_11_17:C7816] +is_obsolete: true + +[Term] +id: DOID:3845 +name: childhood intracranial neoplasm +is_obsolete: true + +[Term] +id: DOID:3846 +name: adamantinous craniopharyngioma +synonym: "Adamantinous craniopharyngioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134216001] +synonym: "Adamantinous Rathke's Pouch tumor" EXACT [NCI2004_11_17:C4726] +synonym: "craniopharyngioma, adamantinomatous" EXACT [SNOMEDCT_2005_07_31:128781004] +xref: MSH:D003397 +xref: NCI:C4726 +xref: SNOMEDCT_US_2015_03_01:128781004 +xref: SNOMEDCT_US_2015_03_01:134216001 +xref: UMLS_CUI:C0431129 +is_a: DOID:3840 ! craniopharyngioma + +[Term] +id: DOID:3847 +name: papillary craniopharyngioma +synonym: "craniopharyngioma, papillary (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128782006] +synonym: "Papillary craniopharyngioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134215002] +synonym: "Papillary Rathke's Pouch tumor" EXACT [NCI2004_11_17:C4725] +xref: MSH:D003397 +xref: NCI:C4725 +xref: SNOMEDCT_US_2015_03_01:128782006 +xref: SNOMEDCT_US_2015_03_01:134215002 +xref: UMLS_CUI:C0431128 +is_a: DOID:3840 ! craniopharyngioma + +[Term] +id: DOID:3848 +name: adult craniopharyngioma +synonym: "adult Rathke's Pouch tumor" EXACT [NCI2004_11_17:C4010] +is_obsolete: true + +[Term] +id: DOID:3849 +name: adult intracranial neoplasm +synonym: "adult intracranial tumor" EXACT [NCI2004_11_17:C5478] +is_obsolete: true + +[Term] +id: DOID:3850 +name: hemangiopericytic tumor +synonym: "Hemangiopericytic neoplasm" EXACT [SNOMEDCT_2005_07_31:189866002] +synonym: "Hemangiopericytic neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189867006] +xref: NCI:C7076 +xref: SNOMEDCT_US_2015_03_01:189866002 +xref: SNOMEDCT_US_2015_03_01:189867006 +xref: UMLS_CUI:C0476144 +is_a: DOID:3316 ! perivascular tumor + +[Term] +id: DOID:3852 +name: Peutz-Jeghers syndrome +alt_id: DOID:4133 +alt_id: DOID:4134 +alt_id: DOID:6252 +alt_id: DOID:6253 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Colonic hamartomatous polyp" EXACT [NCI2004_11_17:C5519] +synonym: "gastric Peutz-Jeghers polyp" EXACT [] +synonym: "Peutz Jeghers colon polyp" EXACT [] +synonym: "Peutz Jeghers polyp" EXACT [] +synonym: "Peutz-Jeghers polyp of small Intestine" EXACT [NCI2004_11_17:C7755] +synonym: "peutz-jeghers small bowel hamartoma" EXACT [] +xref: ICD10CM:Q85.8 +xref: MSH:D010580 +xref: NCI:C3324 +xref: NCI:C4733 +xref: NCI:C7755 +xref: OMIM:175200 +xref: SNOMEDCT_US_2015_03_01:157029009 +xref: SNOMEDCT_US_2015_03_01:277161008 +xref: SNOMEDCT_US_2015_03_01:53633000 +xref: SNOMEDCT_US_2015_03_01:54411001 +xref: UMLS_CUI:C0031269 +xref: UMLS_CUI:C0265323 +xref: UMLS_CUI:C0456487 +xref: UMLS_CUI:C1333088 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:3855 +name: seminal vesicle tumor +synonym: "Seminal Vesicle neoplasm" EXACT [NCI2004_11_17:C39908] +synonym: "tumor of seminal vesicle (disorder)" EXACT [SNOMEDCT_2005_07_31:236740006] +xref: NCI:C39908 +xref: SNOMEDCT_US_2015_03_01:236740006 +xref: UMLS_CUI:C0341767 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:3856 +name: male reproductive organ cancer +alt_id: DOID:10284 +def: "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." [url:http\://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] +synonym: "male genital cancer" EXACT [] +synonym: "male genital neoplasm" RELATED [] +synonym: "male reproductive system neoplasm" EXACT [CSP2005:2016-2462] +synonym: "malignant neoplasm of male genital organ or tract" EXACT [] +synonym: "malignant neoplasm of male genital organ, NOS" EXACT [SNOMEDCT_2005_07_31:93885006] +synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [ICD9CM_2006:187.9] +synonym: "malignant neoplasm of male genital organ, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190130007] +synonym: "malignant neoplasm of male genital organs (disorder)" EXACT [SNOMEDCT_2005_07_31:190127000] +synonym: "malignant tumor of male genital organ" EXACT [MTH:U001031] +synonym: "malignant tumor of male genital organ (disorder)" EXACT [SNOMEDCT_2005_07_31:363515000] +synonym: "malignant tumor of male Reproductive system" EXACT [NCI2004_11_17:C8561] +synonym: "neoplasm of male genital organ" EXACT [SNOMEDCT_2005_07_31:126895004] +synonym: "tumor of male Reproductive system" EXACT [NCI2004_11_17:C3054] +xref: ICD10CM:C60-C63 +xref: ICD10CM:C63.9 +xref: ICD9CM:187.9 +xref: MSH:D005834 +xref: NCI:C3054 +xref: NCI:C8561 +xref: SNOMEDCT_US_2015_03_01:126895004 +xref: SNOMEDCT_US_2015_03_01:190127000 +xref: SNOMEDCT_US_2015_03_01:190130007 +xref: SNOMEDCT_US_2015_03_01:363515000 +xref: SNOMEDCT_US_2015_03_01:93885006 +xref: UMLS_CUI:C0017417 +xref: UMLS_CUI:C0153606 +is_a: DOID:193 ! reproductive organ cancer + +[Term] +id: DOID:3857 +name: large cell medulloblastoma +def: "A medulloblastoma that is characterized by cells that are larger than would be normally expected." [url:http\://en.wikipedia.org/wiki/Large_cell] +subset: DO_cancer_slim +synonym: "large cell Medulloblastoma" EXACT [NCI2004_11_17:C6904] +synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128790006] +xref: NCI:C6904 +xref: SNOMEDCT_US_2015_03_01:128790006 +xref: UMLS_CUI:C1266180 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3859 +name: relapsed medulloblastoma +is_obsolete: true + +[Term] +id: DOID:386 +name: postpericardiotomy syndrome +synonym: "Postcardiotomy syndrome" RELATED [SNOMEDCT_2005_07_31:157793008] +is_obsolete: true + +[Term] +id: DOID:3860 +name: cerebellar vermis medulloblastoma +synonym: "Vermis Medulloblastoma" EXACT [NCI2004_11_17:C5401] +xref: NCI:C5401 +xref: UMLS_CUI:C1332903 +is_a: DOID:0060104 ! cerebellar medulloblastoma + +[Term] +id: DOID:3861 +name: medullomyoblastoma +synonym: "Medullomyoblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24604009] +xref: MSH:D008527 +xref: NCI:C3706 +xref: SNOMEDCT_US_2015_03_01:24604009 +xref: UMLS_CUI:C0205833 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3862 +name: FAP associated medulloblastoma +is_obsolete: true + +[Term] +id: DOID:3863 +name: region 17p13 allelic loss associated medulloblastoma +is_obsolete: true + +[Term] +id: DOID:3864 +name: adult medulloblastoma +alt_id: DOID:6380 +synonym: "adult brain medulloblastoma" EXACT [] +xref: MSH:D008527 +xref: NCI:C4011 +xref: NCI:C9373 +xref: UMLS_CUI:C0278876 +xref: UMLS_CUI:C1332188 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3865 +name: adult central nervous system primitive neuroectodermal neoplasm +synonym: "adult CNS PNET" EXACT [NCI2004_11_17:C5411] +xref: NCI:C5411 +xref: UMLS_CUI:C1332196 +is_a: DOID:0060103 ! central nervous system primitive neuroectodermal neoplasm + +[Term] +id: DOID:3866 +name: desmoplastic medulloblastoma +alt_id: DOID:6926 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "desmoplastic medulloblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:32456001] +synonym: "desmoplastic nodular medulloblastoma" EXACT [SNOMEDCT_2005_07_31:32456001] +is_obsolete: true + +[Term] +id: DOID:3867 +name: nevoid basal cell carcinoma syndrome associated medulloblastoma +is_obsolete: true + +[Term] +id: DOID:3868 +name: melanotic medulloblastoma +synonym: "Medulloblastoma, melanotic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397380008] +synonym: "Melanotic Medulloblastoma" EXACT [NCI2004_11_17:C9497] +xref: MSH:D008527 +xref: NCI:C9497 +xref: SNOMEDCT_US_2015_03_01:397380008 +xref: SNOMEDCT_US_2015_03_01:83217000 +xref: UMLS_CUI:C1275668 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3869 +name: childhood medulloblastoma +synonym: "pediatric Medulloblastoma" EXACT [NCI2004_11_17:C3997] +xref: MSH:D008527 +xref: NCI:C3997 +xref: UMLS_CUI:C0278510 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3870 +name: childhood central nervous system primitive neuroectodermal neoplasm +synonym: "pediatric CNS PNET" EXACT [NCI2004_11_17:C5961] +xref: NCI:C5961 +xref: UMLS_CUI:C1332957 +is_a: DOID:0060103 ! central nervous system primitive neuroectodermal neoplasm + +[Term] +id: DOID:3871 +name: medulloblastoma with leptomeningeal spread +is_obsolete: true + +[Term] +id: DOID:3872 +name: leptomeningeal metastases +synonym: "malignant meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:230156002] +synonym: "Meningeal carcinomatosis" EXACT [NCI2004_11_17:C27383] +synonym: "metastatic tumor to the Leptomeninges" EXACT [NCI2004_11_17:C3814] +is_obsolete: true + +[Term] +id: DOID:3873 +name: nodular medulloblastoma +xref: NCI:C5407 +xref: UMLS_CUI:C1334970 +is_a: DOID:0050902 ! medulloblastoma + +[Term] +id: DOID:3875 +name: thrombophlebitis +alt_id: DOID:1146 +def: "A phlebitis that results from a blood clot in the vessel." [url:http\://en.wikipedia.org/wiki/Thrombophlebitis, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001108.htm] +synonym: "Phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [ICD9CM_2006:451.0] +synonym: "Superficial thrombophlebitis of leg" EXACT [] +synonym: "Thrombophlebitis of a superficial leg vein NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195401008] +synonym: "Thrombophlebitis of superficial veins of lower extremity (disorder)" EXACT [SNOMEDCT_2005_07_31:40283005] +xref: ICD10CM:I80.0 +xref: ICD9CM:451.0 +xref: MSH:D013924 +xref: NCI:C3410 +xref: SNOMEDCT_US_2015_03_01:195401008 +xref: SNOMEDCT_US_2015_03_01:195433004 +xref: SNOMEDCT_US_2015_03_01:266266001 +xref: SNOMEDCT_US_2015_03_01:40283005 +xref: SNOMEDCT_US_2015_03_01:64156001 +xref: UMLS_CUI:C0040046 +xref: UMLS_CUI:C0265057 +is_a: DOID:864 ! phlebitis + +[Term] +id: DOID:3876 +name: colonic pseudo-obstruction +synonym: "primary chronic pseudo-obstruction of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:35065006] +xref: MSH:D003112 +xref: SNOMEDCT_US_2015_03_01:35065006 +xref: UMLS_CUI:C0009377 +is_a: DOID:3877 ! functional colonic disease +is_a: DOID:3878 ! intestinal pseudo-obstruction + +[Term] +id: DOID:3877 +name: functional colonic disease +xref: MSH:D003109 +xref: UMLS_CUI:C0009374 +is_a: DOID:5353 ! colonic disease + +[Term] +id: DOID:3878 +name: intestinal pseudo-obstruction +synonym: "intestinal Pseudo-obstruction" EXACT [NCI2004_11_17:C34733] +synonym: "intestine pseudoobstruction" EXACT [CSP2005:1248-5896] +synonym: "Pseudo-obstruction of intestine (disorder)" EXACT [SNOMEDCT_2005_07_31:235825006] +xref: MSH:D007418 +xref: NCI:C34733 +xref: SNOMEDCT_US_2015_03_01:235825006 +xref: UMLS_CUI:C0021847 +is_a: DOID:8440 ! ileus + +[Term] +id: DOID:3881 +name: Proteus infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Proteus infection" EXACT [CSP2005:0368-2705] +synonym: "Proteus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:186437007] +synonym: "Proteus infection NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186438002] +is_obsolete: true + +[Term] +id: DOID:3883 +name: Lynch syndrome +alt_id: DOID:0050586 +alt_id: DOID:3040 +def: "An autosomal dominant disease that is characterized by \nand has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." [url:http\://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, url:http\://ghr.nlm.nih.gov/condition/lynch-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "COCA 1" EXACT [NCI2004_11_17:C6725] +synonym: "Hereditary Defective Mismatch Repair syndrome" EXACT [NCI2004_11_17:C8494] +synonym: "hereditary non-polyposis colon cancer type 1" EXACT [] +synonym: "hereditary nonpolyposis colorectal cancer" EXACT [] +synonym: "hereditary nonpolyposis colorectal neoplasm" EXACT [] +synonym: "HNPCC - hereditary nonpolyposis colon cancer" EXACT [SNOMEDCT_2005_07_31:315058005] +xref: MSH:D003123 +xref: NCI:C8494 +xref: OMIM:120435 +xref: OMIM:609310 +xref: OMIM:613244 +xref: OMIM:614331 +xref: OMIM:614337 +xref: OMIM:614350 +xref: OMIM:614385 +xref: ORDO:144 +xref: SNOMEDCT_US_2015_03_01:315058005 +xref: UMLS_CUI:C0009405 +xref: UMLS_CUI:C1333990 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:3890 +name: acute intermittent porphyria +synonym: "AIP - acute intermittent porphyria" EXACT [SNOMEDCT_2005_07_31:190914003] +synonym: "porphyria intermittent acute" EXACT [CSP2005:1849-7674] +synonym: "Pyrroloporphyria" EXACT [MTHICD9_2006:277.1] +xref: MSH:D017118 +xref: NCI:C84536 +xref: OMIM:176000 +xref: SNOMEDCT_US_2015_03_01:190914003 +xref: SNOMEDCT_US_2015_03_01:234422006 +xref: SNOMEDCT_US_2015_03_01:90842001 +xref: UMLS_CUI:C0162565 +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:3891 +name: placental insufficiency +def: "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." [url:http\://en.wikipedia.org/wiki/Placental_insufficiency] +xref: MSH:D010927 +xref: SNOMEDCT_US_2015_03_01:156185006 +xref: SNOMEDCT_US_2015_03_01:199610002 +xref: SNOMEDCT_US_2015_03_01:237292005 +xref: SNOMEDCT_US_2015_03_01:267337006 +xref: UMLS_CUI:C0032051 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:3892 +name: insulinoma +alt_id: DOID:3903 +def: "An adenoma that is located_in the pancreas and is characterized by overproduction of insulin." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001424/] +synonym: "Insulin-Producing tumor of Islet cells" EXACT [NCI2004_11_17:C3140] +synonym: "Islet cell adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:76345009] +xref: MSH:D007340 +xref: MSH:D007516 +xref: NCI:C3140 +xref: NCI:C65184 +xref: NCI:C95598 +xref: SNOMEDCT_US_2015_03_01:134154009 +xref: SNOMEDCT_US_2015_03_01:189586007 +xref: SNOMEDCT_US_2015_03_01:25324008 +xref: SNOMEDCT_US_2015_03_01:302822000 +xref: SNOMEDCT_US_2015_03_01:76345009 +xref: UMLS_CUI:C0021670 +xref: UMLS_CUI:C0022134 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:3893 +name: hidrocystoma +synonym: "Apocrine Cystadenoma" EXACT [NCI2004_11_17:C3760] +synonym: "Apocrine cystadenoma" EXACT [SNOMEDCT_2005_07_31:36318001] +synonym: "Apocrine cystadenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254725004] +synonym: "Eccrine Cystadenoma" EXACT [NCI2004_11_17:C7565] +synonym: "Eccrine hidrocystoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254716005] +synonym: "Hidrocystoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:80549000] +xref: MSH:D018251 +xref: NCI:C3760 +xref: SNOMEDCT_US_2015_03_01:80549000 +xref: UMLS_CUI:C0206672 +is_a: DOID:5876 ! apocrine sweat gland neoplasm + +[Term] +id: DOID:3895 +name: apocrine adenoma +synonym: "Apocrine adenoma" EXACT [NCI2004_11_17:C4168] +synonym: "Apocrine adenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:307596009] +synonym: "Apocrine adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36318001] +synonym: "tubular Apocrine adenoma" EXACT [NCI2004_11_17:C27527] +xref: NCI:C27527 +xref: NCI:C4168 +xref: SNOMEDCT_US_2015_03_01:307596009 +xref: SNOMEDCT_US_2015_03_01:36318001 +xref: UMLS_CUI:C0334345 +is_a: DOID:5876 ! apocrine sweat gland neoplasm + +[Term] +id: DOID:3896 +name: hidradenoma +synonym: "Hidradenoma" EXACT [NCI2004_11_17:C7563] +synonym: "Hidradenoma morphology" EXACT [SNOMEDCT_2005_07_31:307574003] +synonym: "Hidradenoma morphology" EXACT [SNOMEDCT_2005_07_31:189664001] +synonym: "Hidradenoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:253020008] +synonym: "Sweat gland adenoma" EXACT [NCI2004_11_17:C7560] +synonym: "Sweat gland adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:81393009] +synonym: "Syringoadenoma" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "Syringoadenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255182002] +xref: MSH:D006607 +xref: NCI:C7560 +xref: NCI:C7563 +xref: SNOMEDCT_US_2015_03_01:189051001 +xref: SNOMEDCT_US_2015_03_01:189664001 +xref: SNOMEDCT_US_2015_03_01:253020008 +xref: SNOMEDCT_US_2015_03_01:254719003 +xref: SNOMEDCT_US_2015_03_01:255182002 +xref: SNOMEDCT_US_2015_03_01:307574003 +xref: SNOMEDCT_US_2015_03_01:400099008 +xref: SNOMEDCT_US_2015_03_01:81393009 +xref: UMLS_CUI:C0019522 +is_a: DOID:2664 ! sweat gland neoplasm + +[Term] +id: DOID:3898 +name: skin appendage adenoma +synonym: "adenoma of skin appendage" RELATED [] +synonym: "Adnexal adenoma" EXACT [NCI2004_11_17:C7580] +synonym: "skin appendage adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189660005] +synonym: "skin appendage adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:55681005] +is_obsolete: true + +[Term] +id: DOID:3899 +name: skin appendage neoplasm +synonym: "Adnexal and skin appendage neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189658008] +synonym: "Adnexal and skin appendage neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189675002] +synonym: "Adnexal and skin appendage tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134319006] +is_obsolete: true + +[Term] +id: DOID:390 +name: obstetric venous problem +alt_id: DOID:11956 +alt_id: DOID:11957 +alt_id: DOID:13384 +alt_id: DOID:13385 +synonym: "Antenatal deep vein thrombosis" EXACT [SNOMEDCT_2005_07_31:156268003] +synonym: "Antenatal deep vein thrombosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200234007] +synonym: "Antenatal deep vein thrombosis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:200231004] +synonym: "Antepartum deep phlebothrombosis (disorder)" EXACT [SNOMEDCT_2005_07_31:49956009] +synonym: "antepartum deep-vein thrombosis" EXACT [] +synonym: "Deep phlebothrombosis, antepartum" EXACT [ICD9CM_2006:671.3, ICD9CM_2006:671.33] +synonym: "Deep phlebothrombosis, antepartum, unspecified as to episode of care" EXACT [ICD9CM_2006:671.30] +synonym: "Deep phlebothrombosis, antepartum, with delivery" EXACT [] +synonym: "Deep phlebothrombosis, postpartum, with delivery" EXACT [] +synonym: "postpartum deep-vein thrombosis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3901 +name: vulvitis +synonym: "Vulvitis (disorder)" EXACT [SNOMEDCT_2005_07_31:63144007] +synonym: "Vulvitis - non sp." EXACT [SNOMEDCT_2005_07_31:266655004] +synonym: "Vulvitis - non sp." EXACT [SNOMEDCT_2005_07_31:155981006] +synonym: "Vulvitis NOS" EXACT [MTHICD9_2006:616.10] +synonym: "Vulvitis unspecified" EXACT [SNOMEDCT_2005_07_31:198214007] +synonym: "Vulvitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:266586003] +xref: ICD10CM:N76.2 +xref: MSH:D014847 +xref: SNOMEDCT_US_2015_03_01:155981006 +xref: SNOMEDCT_US_2015_03_01:198214007 +xref: SNOMEDCT_US_2015_03_01:266586003 +xref: SNOMEDCT_US_2015_03_01:266655004 +xref: SNOMEDCT_US_2015_03_01:63144007 +xref: UMLS_CUI:C0042996 +is_a: DOID:2059 ! vulvar disease + +[Term] +id: DOID:3902 +name: pseudorabies +def: "A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." [url:http\://en.wikipedia.org/wiki/Pseudorabies, url:http\://www.plospathogens.org/article/info\:doi%2F10.1371%2Fjournal.ppat.1000640] +synonym: "Aujeszky's disease" EXACT [] +synonym: "mad itch" EXACT [] +is_obsolete: true + +[Term] +id: DOID:3904 +name: bronchus carcinoma +def: "A bronchus cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "BC - Bronchogenic carcinoma" EXACT [SNOMEDCT_2005_07_31:254622008] +xref: CSP:2017-6052 +xref: MSH:D002283 +xref: NCI:C35875 +xref: SNOMEDCT_US_2015_03_01:154485001 +xref: SNOMEDCT_US_2015_03_01:254622008 +xref: SNOMEDCT_US_2015_03_01:269561006 +xref: SNOMEDCT_US_2015_03_01:363493006 +xref: UMLS_CUI:C0007121 +is_a: DOID:1325 ! bronchus cancer + +[Term] +id: DOID:3905 +name: lung carcinoma +def: "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." [url:https\://merck.com/mmpe/sec05/ch062/ch062b.html] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "cancer of lung" EXACT [NCI2004_11_17:C4878] +synonym: "carcinoma of lung" RELATED [] +xref: EFO:0001071 +xref: ICD10CM:C34.90 +xref: NCI:C4878 +xref: SNOMEDCT_US_2015_03_01:154485001 +xref: SNOMEDCT_US_2015_03_01:187875007 +xref: SNOMEDCT_US_2015_03_01:269561006 +xref: UMLS_CUI:C0684249 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:3906 +name: bronchial neoplasm +synonym: "bronchus neoplasm" EXACT [CSP2005:2017-5516] +synonym: "neoplasm of bronchus (disorder)" EXACT [SNOMEDCT_2005_07_31:126705004] +xref: MSH:D001984 +xref: SNOMEDCT_US_2015_03_01:126705004 +xref: UMLS_CUI:C0006264 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:3907 +name: lung squamous cell carcinoma +def: "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." [url:http\://cancergenome.nih.gov/cancersselected/lungsquamouscell, url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung, url:http\://www.cancer.gov/dictionary?CdrID=46595] +subset: DO_cancer_slim +synonym: "Epidermoid cell carcinoma of the lung" EXACT [NCI2004_11_17:C3493] +synonym: "squamous cell carcinoma of lung" RELATED [] +xref: NCI:C3493 +xref: SNOMEDCT_US_2015_03_01:254634000 +xref: UMLS_CUI:C0149782 +is_a: DOID:3908 ! non-small cell lung carcinoma + +[Term] +id: DOID:3908 +name: non-small cell lung carcinoma +def: "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." [url:http\://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma] +subset: DO_cancer_slim +synonym: "Non-small cell lung cancer (disorder)" EXACT [SNOMEDCT_2005_07_31:254637007] +synonym: "NSCLC" EXACT [NCI2004_11_17:C2926] +synonym: "NSCLC" EXACT [CSP2005:4005-0042] +xref: EFO:0003060 +xref: KEGG:05223 +xref: MSH:D002289 +xref: NCI:C2926 +xref: SNOMEDCT_US_2015_03_01:254637007 +xref: UMLS_CUI:C0007131 +is_a: DOID:3905 ! lung carcinoma + +[Term] +id: DOID:3909 +name: bronchogenic lung adenocarcinoma +synonym: "Bronchiogenic adenocarcinoma" EXACT [NCI2004_11_17:C7948] +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:3910 +name: lung adenocarcinoma +alt_id: DOID:4826 +def: "A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/lungadenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung] +subset: DO_cancer_slim +synonym: "adenocarcinoma of lung" RELATED [] +synonym: "nonsmall cell adenocarcinoma" EXACT [] +xref: EFO:0000571 +xref: MSH:C538231 +xref: NCI:C27745 +xref: NCI:C3512 +xref: SNOMEDCT_US_2015_03_01:254626006 +xref: UMLS_CUI:C0152013 +xref: UMLS_CUI:C1335060 +is_a: DOID:3908 ! non-small cell lung carcinoma + +[Term] +id: DOID:3911 +name: progeria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "HGPS" EXACT [] +synonym: "Hutchinson Gilford syndrome" EXACT [CSP2005:0071-4237] +synonym: "Hutchinson-Gilford disease" EXACT [NCI2004_11_17:C34951] +synonym: "Hutchinson-Gilford Progeria syndrome" EXACT [] +synonym: "Hutchinson-Gilford syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:238870004] +synonym: "Progeria (disorder)" EXACT [SNOMEDCT_2005_07_31:190590004] +synonym: "Progeria syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:46238000] +xref: ICD10CM:E34.8 +xref: MSH:D011371 +xref: NCI:C34951 +xref: OMIM:176670 +xref: SNOMEDCT_US_2015_03_01:190590004 +xref: SNOMEDCT_US_2015_03_01:238869000 +xref: SNOMEDCT_US_2015_03_01:238870004 +xref: SNOMEDCT_US_2015_03_01:46238000 +xref: UMLS_CUI:C0033300 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:3914 +name: serous cystadenoma of ovary +synonym: "Ovarian serous Cystadenoma" EXACT [NCI2004_11_17:C4511] +is_obsolete: true + +[Term] +id: DOID:3916 +name: borderline malignancy serous cystadenoma +synonym: "Atypical proliferating serous tumour" EXACT [SNOMEDCT_2005_07_31:128849004] +synonym: "Low Malignancy Potential serous Cystadenoma" EXACT [NCI2004_11_17:C4177] +is_obsolete: true + +[Term] +id: DOID:3917 +name: pancreatic serous cystadenoma +xref: NCI:C5712 +xref: UMLS_CUI:C1335316 +is_a: DOID:3918 ! pancreatic cystadenoma + +[Term] +id: DOID:3918 +name: pancreatic cystadenoma +xref: NCI:C4374 +xref: SNOMEDCT_US_2015_03_01:235967003 +xref: UMLS_CUI:C0341486 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:3919 +name: pancreatic serous cystic neoplasm +xref: NCI:C41248 +xref: UMLS_CUI:C1518875 +is_a: DOID:1795 ! tumor of exocrine pancreas + +[Term] +id: DOID:3923 +name: diffuse lipomatosis +xref: NCI:C6504 +xref: UMLS_CUI:C1333298 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:3924 +name: main bronchus cancer +synonym: "Ca main bronchus" EXACT [SNOMEDCT_2005_07_31:154487009] +synonym: "Ca main bronchus (disorder)" EXACT [SNOMEDCT_2005_07_31:269563009] +synonym: "malignant neoplasm of main bronchus" EXACT [SNOMEDCT_2005_07_31:187856002] +synonym: "malignant neoplasm of main bronchus" EXACT [ICD9CM_2006:162.2] +synonym: "malignant neoplasm of main bronchus (disorder)" EXACT [SNOMEDCT_2005_07_31:372065009] +synonym: "malignant neoplasm of main bronchus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187859009] +xref: ICD10CM:C34.0 +xref: ICD9CM:162.2 +xref: SNOMEDCT_US_2015_03_01:154487009 +xref: SNOMEDCT_US_2015_03_01:187856002 +xref: SNOMEDCT_US_2015_03_01:187859009 +xref: SNOMEDCT_US_2015_03_01:269563009 +xref: SNOMEDCT_US_2015_03_01:372065009 +xref: UMLS_CUI:C0153490 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:3925 +name: steroid lipomatosis +xref: NCI:C27487 +xref: UMLS_CUI:C1336506 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:3926 +name: mediastinal lipomatosis +xref: NCI:C27488 +xref: UMLS_CUI:C1334662 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:3927 +name: pelvic lipomatosis +synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:190802005] +xref: MSH:C535549 +xref: NCI:C27486 +xref: SNOMEDCT_US_2015_03_01:190802005 +xref: UMLS_CUI:C0406608 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:3928 +name: adiposis dolorosa +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dercum disease" EXACT [] +xref: ICD10CM:E88.2 +xref: MSH:D000274 +xref: NCI:C84540 +xref: OMIM:103200 +xref: SNOMEDCT_US_2015_03_01:71404003 +xref: UMLS_CUI:C0001529 +is_a: DOID:3153 ! lipomatosis + +[Term] +id: DOID:3930 +name: otitis interna +def: "A otitis which involves inflammation of the inner ear." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna] +synonym: "inner ear infection" EXACT [] +xref: NCI:C27339 +xref: UMLS_CUI:C1168225 +is_a: DOID:2952 ! inner ear disease + +[Term] +id: DOID:3933 +name: anterior compartment syndrome +synonym: "Anterior compartment syndrome" EXACT [SNOMEDCT_2005_07_31:157669006] +synonym: "Anterior compartment syndrome" EXACT [SNOMEDCT_2005_07_31:212379008] +synonym: "Anterior compartment syndrome" EXACT [SNOMEDCT_2005_07_31:269407005] +xref: ICD10CM:M76.81 +xref: MSH:D000868 +xref: SNOMEDCT_US_2015_03_01:12694001 +xref: SNOMEDCT_US_2015_03_01:157669006 +xref: SNOMEDCT_US_2015_03_01:212379008 +xref: SNOMEDCT_US_2015_03_01:269407005 +xref: UMLS_CUI:C0003152 +is_a: DOID:682 ! compartment syndrome + +[Term] +id: DOID:3939 +name: lipomatous cancer +synonym: "malignant lipomatous tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:254828009] +synonym: "malignant tumor of Adipose tissue" EXACT [NCI2004_11_17:C4501] +xref: NCI:C4501 +xref: SNOMEDCT_US_2015_03_01:254828009 +xref: UMLS_CUI:C0346117 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:3944 +name: Arenaviridae infectious disease +def: "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." [url:http\://en.wikipedia.org/wiki/Arenaviridae] +is_obsolete: true + +[Term] +id: DOID:3946 +name: pituitary-dependent Cushing's disease +synonym: "Overproduction of ACTH" EXACT [MTHICD9_2006:255.3] +synonym: "pituitary-dependent Cushing disease" EXACT [] +xref: ICD10CM:E24.0 +xref: MSH:D047748 +xref: SNOMEDCT_US_2015_03_01:190502001 +xref: SNOMEDCT_US_2015_03_01:9545009 +xref: UMLS_CUI:C0221406 +is_a: DOID:2444 ! hyperpituitarism + +[Term] +id: DOID:3947 +name: adrenal gland hyperfunction +synonym: "Adrenocortical hyperfunction" EXACT [SNOMEDCT_2005_07_31:190520005] +synonym: "disorder of corticoadrenal overactivity" EXACT [SNOMEDCT_2005_07_31:275437005] +synonym: "disorder of corticoadrenal overactivity" EXACT [SNOMEDCT_2005_07_31:111561007] +synonym: "hyperadrenalism" EXACT [CSP2005:0060-4042] +synonym: "hypercortisolism" EXACT [CSP2005:4006-0047] +synonym: "hypercortisolism (disorder)" EXACT [SNOMEDCT_2005_07_31:47270006] +synonym: "Overproduction of cortisol" EXACT [MTHICD9_2006:255.0] +xref: MSH:D000308 +xref: NCI:C113208 +xref: NCI:C113210 +xref: SNOMEDCT_US_2015_03_01:111561007 +xref: SNOMEDCT_US_2015_03_01:190520005 +xref: SNOMEDCT_US_2015_03_01:275437005 +xref: SNOMEDCT_US_2015_03_01:47270006 +xref: UMLS_CUI:C0001622 +is_a: DOID:3952 ! adrenal cortex disease + +[Term] +id: DOID:3948 +name: adrenocortical carcinoma +def: "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma, url:http\://www.cancer.gov/cancertopics/types/adrenocortical] +subset: DO_cancer_slim +synonym: "Adrenal cortical carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2227007] +synonym: "carcinoma of the Adrenal cortex" EXACT [NCI2004_11_17:C9325] +xref: MSH:D018268 +xref: NCI:C9325 +xref: OMIM:202300 +xref: SNOMEDCT_US_2015_03_01:2227007 +xref: SNOMEDCT_US_2015_03_01:255035007 +xref: UMLS_CUI:C0206686 +is_a: DOID:660 ! adrenal cortex cancer + +[Term] +id: DOID:3950 +name: adrenal carcinoma +def: "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] +synonym: "carcinoma of the Adrenal gland" EXACT [NCI2004_11_17:C9324] +xref: SNOMEDCT_US_2015_03_01:255035007 +xref: UMLS_CUI:C1370740 +is_a: DOID:3953 ! adrenal gland cancer + +[Term] +id: DOID:3951 +name: acute myocarditis +xref: ICD10CM:I40 +xref: ICD10CM:I40.9 +xref: ICD9CM:422 +xref: ICD9CM:422.90 +xref: NCI:C35206 +xref: SNOMEDCT_US_2015_03_01:155336004 +xref: SNOMEDCT_US_2015_03_01:194953001 +xref: SNOMEDCT_US_2015_03_01:194961006 +xref: SNOMEDCT_US_2015_03_01:195569005 +xref: SNOMEDCT_US_2015_03_01:46701001 +xref: UMLS_CUI:C0155686 +is_a: DOID:820 ! myocarditis + +[Term] +id: DOID:3952 +name: adrenal cortex disease +synonym: "disorder of adrenal cortex (disorder)" EXACT [SNOMEDCT_2005_07_31:129636003] +xref: MSH:D000303 +xref: SNOMEDCT_US_2015_03_01:129636003 +xref: UMLS_CUI:C0001614 +is_a: DOID:9553 ! adrenal gland disease + +[Term] +id: DOID:3953 +name: adrenal gland cancer +alt_id: DOID:11007 +def: "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys." [url:http\://en.wikipedia.org/wiki/Adrenal_gland] +subset: TopNodes_DOcancerslim +synonym: "adrenal cancer" EXACT [] +synonym: "adrenal neoplasm" EXACT [CSP2005:2009-6040] +synonym: "malignant Adrenal tumor" EXACT [NCI2004_11_17:C9338] +synonym: "malignant neoplasm of adrenal gland" EXACT [ICD9CM_2006:194.0, SNOMEDCT_2005_07_31:188337000, SNOMEDCT_2005_07_31:93665005] +synonym: "neoplasm of adrenal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:127021009] +synonym: "tumor of the Adrenal gland" EXACT [NCI2004_11_17:C2859] +xref: ICD10CM:C74 +xref: ICD10CM:C74.9 +xref: ICD9CM:194.0 +xref: MSH:D000310 +xref: NCI:C2859 +xref: NCI:C9338 +xref: SNOMEDCT_US_2015_03_01:127021009 +xref: SNOMEDCT_US_2015_03_01:188337000 +xref: SNOMEDCT_US_2015_03_01:188338005 +xref: SNOMEDCT_US_2015_03_01:363355002 +xref: SNOMEDCT_US_2015_03_01:93665005 +xref: UMLS_CUI:C0001624 +xref: UMLS_CUI:C0750887 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:3959 +name: adrenal cortical adenocarcinoma +def: "An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] +synonym: "Adrenal cortex adenocarcinoma" EXACT [NCI2004_11_17:C9326] +synonym: "Adrenal cortical adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:255035007] +synonym: "Adrenal cortical adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:2227007] +is_a: DOID:3948 ! adrenocortical carcinoma + +[Term] +id: DOID:396 +name: Loeffler endocarditis +def: "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils." [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis] +synonym: "Eosinophilic Endomyocardial disease" EXACT [NCI2004_11_17:C27044] +xref: ICD10CM:I42.3 +xref: NCI:C27044 +xref: SNOMEDCT_US_2015_03_01:33258008 +xref: UMLS_CUI:C0264834 +is_a: DOID:397 ! restrictive cardiomyopathy + +[Term] +id: DOID:3962 +name: follicular thyroid carcinoma +def: "A thyroid carcinoma that has_material_basis_in follicular cells." [url:http\://en.wikipedia.org/wiki/Follicular_thyroid_cancer] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Follicular adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5257006] +synonym: "Follicular adenocarcinoma, well differentiated (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28173006] +synonym: "Follicular carcinoma" EXACT [SNOMEDCT_2005_07_31:189642005] +synonym: "Follicular carcinoma of the Thyroid gland" EXACT [NCI2004_11_17:C8054] +synonym: "Follicular thyroid carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255028004] +synonym: "Thyroid adenocarcinoma" EXACT [NCI2004_11_17:C27380] +xref: MSH:D018263 +xref: NCI:C8054 +xref: OMIM:188470 +xref: SNOMEDCT_US_2015_03_01:189642005 +xref: SNOMEDCT_US_2015_03_01:255028004 +xref: SNOMEDCT_US_2015_03_01:28173006 +xref: SNOMEDCT_US_2015_03_01:5257006 +xref: UMLS_CUI:C0206682 +is_a: DOID:3963 ! thyroid carcinoma + +[Term] +id: DOID:3963 +name: thyroid carcinoma +def: "A thyroid cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "head and neck cancer, Thyroid" EXACT [NCI2004_11_17:C4815] +xref: EFO:0002892 +xref: MSH:D013964 +xref: NCI:C4815 +xref: UMLS_CUI:C0549473 +is_a: DOID:1781 ! thyroid cancer + +[Term] +id: DOID:3964 +name: trabecular follicular adenocarcinoma +synonym: "Follicular adenocarcinoma, trabecular (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:72174007] +synonym: "Trabecular Follicular carcinoma" EXACT [NCI2004_11_17:C7385] +xref: SNOMEDCT_US_2015_03_01:72174007 +xref: UMLS_CUI:C0334327 +is_a: DOID:3962 ! follicular thyroid carcinoma + +[Term] +id: DOID:3965 +name: Merkel cell carcinoma +synonym: "Trabecular adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:29792007] +synonym: "trabecular carcinoma" EXACT [] +xref: NCI:C4068 +xref: SNOMEDCT_US_2015_03_01:29792007 +xref: UMLS_CUI:C0302182 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:3968 +name: papillary follicular thyroid adenocarcinoma +xref: MSH:D018265 +xref: NCI:C7380 +xref: SNOMEDCT_US_2015_03_01:189643000 +xref: SNOMEDCT_US_2015_03_01:21968007 +xref: UMLS_CUI:C0206683 +is_a: DOID:3969 ! papillary thyroid carcinoma + +[Term] +id: DOID:3969 +name: papillary thyroid carcinoma +def: "A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer." [url:http\://cancergenome.nih.gov/cancersselected/thyroid, url:http\://en.wikipedia.org/wiki/Papillary_thyroid_cancer, url:http\://www.ncbi.nlm.nih.gov/pubmed/21455196] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Papillary carcinoma of the Thyroid gland" EXACT [NCI2004_11_17:C4035] +xref: MSH:C536915 +xref: NCI:C4035 +xref: OMIM:188550 +xref: SNOMEDCT_US_2015_03_01:255029007 +xref: SNOMEDCT_US_2015_03_01:4797003 +xref: UMLS_CUI:C0238463 +is_a: DOID:3963 ! thyroid carcinoma + +[Term] +id: DOID:397 +name: restrictive cardiomyopathy +comment: Xref MGI.\nOMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. +subset: DO_MGI_slim +synonym: "Cardiomyopathy, constrictive" EXACT [MTHICD9_2006:425.4] +synonym: "Familial restrictive cardiomyopathy" RELATED [OMIM:115210] +synonym: "primary restrictive cardiomyopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:90828009] +synonym: "Restrictive cardiomyopathy" EXACT [SNOMEDCT_2005_07_31:389996009] +synonym: "Restrictive cardiomyopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:415295002] +xref: ICD10CM:I42.5 +xref: MSH:D002313 +xref: NCI:C62798 +xref: OMIM:115210 +xref: OMIM:609578 +xref: OMIM:612422 +xref: OMIM:615248 +xref: ORDO:75249 +xref: SNOMEDCT_US_2015_03_01:389996009 +xref: SNOMEDCT_US_2015_03_01:415295002 +xref: SNOMEDCT_US_2015_03_01:90828009 +xref: UMLS_CUI:C0007196 +is_a: DOID:0060036 ! intrinsic cardiomyopathy + +[Term] +id: DOID:3973 +name: thyroid medullary carcinoma +def: "A follicular thyroid carcinoma that has_material_basis_in parafollicular cells." [url:http\://en.wikipedia.org/wiki/Medullary_thyroid_cancer] +subset: DO_cancer_slim +synonym: "Medullary carcinoma of the Thyroid gland" EXACT [NCI2004_11_17:C3879] +synonym: "medullary thyroid carcinoma" EXACT [CSP2005:4003-0036] +synonym: "Medullary thyroid carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255032005] +synonym: "Ultimobranchial thyroid tumor" EXACT [SNOMEDCT_2005_07_31:32913002] +synonym: "Ultimobranchial thyroid tumour" EXACT [SNOMEDCT_2005_07_31:128916007] +xref: MSH:C536914 +xref: NCI:C3879 +xref: SNOMEDCT_US_2015_03_01:128916007 +xref: SNOMEDCT_US_2015_03_01:255032005 +xref: SNOMEDCT_US_2015_03_01:32913002 +xref: UMLS_CUI:C0238462 +is_a: DOID:3962 ! follicular thyroid carcinoma + +[Term] +id: DOID:3974 +name: medullary carcinoma +synonym: "Medullary carcinoma" EXACT [NCI2004_11_17:C8998] +synonym: "Medullary carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:32913002] +synonym: "Medullary carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189711009] +is_obsolete: true + +[Term] +id: DOID:3978 +name: extrinsic cardiomyopathy +def: "A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html] +xref: ICD9CM:425.8 +xref: SNOMEDCT_US_2015_03_01:195580005 +xref: UMLS_CUI:C0155699 +is_a: DOID:0050700 ! cardiomyopathy + +[Term] +id: DOID:398 +name: cutaneous tuberculosis +alt_id: DOID:1031 +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis cutis" EXACT [MTHICD9_2006:017.0] +synonym: "Tuberculosis of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:66986005] +synonym: "tuberculosis of skin and subcutaneous cellular tissue" EXACT [] +synonym: "Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination" EXACT [ICD9CM_2006:017.00] +is_obsolete: true + +[Term] +id: DOID:3981 +name: pantothenate kinase-associated neurodegeneration +def: "A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system." [url:http\://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration, url:http\://www.ninds.nih.gov/disorders/nbia/nbia.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "brain Iron Accumulation type I syndrome" EXACT [NCI2004_11_17:C8967] +synonym: "Hallervorden-Spatz disease" EXACT [MTHICD9_2006:333.0] +synonym: "Hallervorden-Spatz syndrome" EXACT [] +synonym: "neurodegeneration with brain iron accumulation 1 " EXACT [] +synonym: "Pigmentary pallidal degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:2992000] +xref: ICD10CM:G23.0 +xref: MSH:D006211 +xref: NCI:C84988 +xref: NCI:C8967 +xref: OMIM:234200 +xref: OMIM:256600 +xref: OMIM:300894 +xref: OMIM:606159 +xref: OMIM:610217 +xref: OMIM:614298 +xref: OMIM:615643 +xref: SNOMEDCT_US_2015_03_01:2992000 +xref: UMLS_CUI:C0018523 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:3982 +name: Meige syndrome +def: "A cranio-facial dystonia that is accompanied by blepharospasm." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +synonym: "Meige syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:230325003] +xref: MSH:D008538 +xref: SNOMEDCT_US_2015_03_01:230325003 +xref: UMLS_CUI:C0025183 +is_a: DOID:0050845 ! cranio-facial dystonia + +[Term] +id: DOID:3983 +name: oesophagostomiasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm] +synonym: "Infection by Oesophagostomum" EXACT [SNOMEDCT_2005_07_31:22500005] +xref: MSH:D009814 +xref: SNOMEDCT_US_2015_03_01:22500005 +xref: UMLS_CUI:C0028887 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:3984 +name: Strongylus equinus infectious disease +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf] +synonym: "equine strongyle infectious disease" EXACT [] +synonym: "Infection by Strongylus equinus (disorder)" EXACT [SNOMEDCT_2005_07_31:67509002] +is_obsolete: true + +[Term] +id: DOID:3985 +name: ostertagiasis +def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." [url:http\://jvdi.org/cgi/reprint/1/2/195.pdf] +xref: MSH:D010029 +xref: UMLS_CUI:C0029471 +is_a: DOID:1255 ! trichostrongyloidiasis + +[Term] +id: DOID:399 +name: tuberculosis +alt_id: DOID:10096 +alt_id: DOID:12688 +alt_id: DOID:12691 +alt_id: DOID:415 +alt_id: DOID:9901 +alt_id: DOID:9902 +def: "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." [url:http\://www.merckmanuals.com/home/sec17/ch193/ch193a.html, url:www.uphs.upenn.edu/bugdrug/antibiotic_manual/atstbdx99.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of mother, with delivery" RELATED [] +synonym: "Tuberculosis pregnancy" RELATED [] +synonym: "Tuberculosis, antepartum" RELATED [] +synonym: "Tuberculosis, postpartum" RELATED [] +synonym: "tuberculous abscess" EXACT [] +xref: EFOpat_id:863 +xref: MSH:D014375 +xref: SNOMEDCT_US_2015_03_01:15202009 +xref: UMLS_CUI:C0041295 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:3996 +name: urinary system cancer +def: "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] +xref: ICD10CM:C68.9 +xref: ICD9CM:189.9 +xref: SNOMEDCT_US_2015_03_01:190132004 +xref: UMLS_CUI:C0348371 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:3997 +name: urinary tract infiltrating transitional cell carcinoma +is_obsolete: true + +[Term] +id: DOID:3998 +name: Bartholin's gland transitional cell carcinoma +synonym: "Bartholin gland transitional cell carcinoma" EXACT [] +xref: NCI:C40297 +xref: UMLS_CUI:C1511053 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:3999 +name: Bartholin's gland carcinoma +def: "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland." [url:http\://en.wikipedia.org/wiki/Bartholin%27s_gland, url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "Bartholin gland carcinoma" EXACT [] +synonym: "Bartholin's gland cancer" EXACT [NCI2004_11_17:C9055] +synonym: "Bartholin's gland carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399533005] +synonym: "carcinoma of Bartholin's gland" RELATED [] +synonym: "carcinoma of Bartholin's gland (disorder)" EXACT [SNOMEDCT_2005_07_31:276876007] +xref: NCI:C9055 +xref: SNOMEDCT_US_2015_03_01:276876007 +xref: SNOMEDCT_US_2015_03_01:399533005 +xref: UMLS_CUI:C0349561 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:4 +name: disease +def: "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." [url:http\://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf] +xref: MSH:D004194 +xref: NCI:C2991 +xref: SNOMEDCT_US_2015_03_01:64572001 +xref: UMLS_CUI:C0012634 + +[Term] +id: DOID:4000 +name: ovary transitional cell carcinoma +alt_id: DOID:2637 +alt_id: DOID:4002 +synonym: "malignant ovarian transitional cell neoplasm" EXACT [] +synonym: "ovarian transitional cell cancer" EXACT [] +synonym: "ovarian transitional cell neoplasm" RELATED [] +synonym: "transitional cell carcinoma of Ovary" EXACT [NCI2004_11_17:C5240] +xref: NCI:C40089 +xref: NCI:C5240 +xref: NCI:C7280 +xref: UMLS_CUI:C1335184 +xref: UMLS_CUI:C1335185 +xref: UMLS_CUI:C1518237 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:4001 +name: ovarian carcinoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Ovarian carcinoma" EXACT [NCI2004_11_17:C4908] +xref: EFO:0001075 +xref: MSH:C538090 +xref: NCI:C4908 +xref: UMLS_CUI:C0677886 +is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm + +[Term] +id: DOID:4003 +name: Schneiderian carcinoma +synonym: "Cylindrical cell carcinoma" EXACT [SNOMEDCT_2005_07_31:5600009] +xref: NCI:C54287 +xref: SNOMEDCT_US_2015_03_01:5600009 +xref: UMLS_CUI:C0334270 +is_a: DOID:1357 ! maxillary sinus cancer + +[Term] +id: DOID:4005 +name: endometrial transitional cell carcinoma +xref: NCI:C40154 +xref: UMLS_CUI:C1516864 +is_a: DOID:2871 ! endometrial carcinoma + +[Term] +id: DOID:4006 +name: bladder transitional cell carcinoma +def: "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder." [url:http\://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma, url:http\://www.cancer.gov/dictionary?cdrid=46629] +subset: DO_cancer_slim +synonym: "transitional cell carcinoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:255109008] +synonym: "urinary bladder Urothelial carcinoma" EXACT [NCI2004_11_17:C39851] +synonym: "urothelial bladder carcinoma" EXACT [] +xref: NCI:C39851 +xref: SNOMEDCT_US_2015_03_01:255109008 +xref: SNOMEDCT_US_2015_03_01:393562002 +xref: UMLS_CUI:C0279680 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:4007 +name: bladder carcinoma +def: "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://nci.nih.gov/cancertopics/types/bladder] +subset: DO_cancer_slim +synonym: "carcinoma bladder" EXACT [SNOMEDCT_2005_07_31:269607003] +synonym: "carcinoma bladder" EXACT [SNOMEDCT_2005_07_31:154540000] +synonym: "carcinoma OF BLADDER" EXACT [MTH:108] +synonym: "carcinoma of bladder" RELATED [] +synonym: "carcinoma of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:255108000] +synonym: "carcinoma of urinary bladder" EXACT [NCI2004_11_17:C4912] +xref: EFO:0000292 +xref: NCI:C4912 +xref: SNOMEDCT_US_2015_03_01:154540000 +xref: SNOMEDCT_US_2015_03_01:255108000 +xref: SNOMEDCT_US_2015_03_01:269607003 +xref: UMLS_CUI:C0699885 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:4008 +name: fallopian tube transitional cell carcinoma +xref: NCI:C40104 +xref: UMLS_CUI:C1517128 +is_a: DOID:1963 ! fallopian tube carcinoma + +[Term] +id: DOID:4009 +name: renal pelvis and ureter transitional cell cancer +synonym: "Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [NCI2004_11_17:C7716] +is_obsolete: true + +[Term] +id: DOID:401 +name: multidrug-resistant tuberculosis +def: "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." [url:http\://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis] +subset: gram-positive_bacterial_infectious_disease +xref: MSH:D018088 +xref: SNOMEDCT_US_2015_03_01:423092005 +xref: UMLS_CUI:C0206526 +is_a: DOID:399 ! tuberculosis + +[Term] +id: DOID:4010 +name: renal pelvis and ureter cancer +is_obsolete: true + +[Term] +id: DOID:4011 +name: prostate transitional cell carcinoma +synonym: "transitional cell carcinoma of prostate" EXACT [NCI2004_11_17:C5540] +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:4012 +name: papillary transitional carcinoma +def: "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium." [url:http\://esynopsis.uchc.edu/eAtlas/GU/908.htm] +synonym: "Papillary transitional cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12400006] +xref: NCI:C4122 +xref: SNOMEDCT_US_2015_03_01:12400006 +xref: UMLS_CUI:C0334274 +is_a: DOID:2671 ! transitional cell carcinoma + +[Term] +id: DOID:4013 +name: urethra transitional cell carcinoma +def: "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter." [url:http\://cancer.emedtv.com/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29.html] +synonym: "urethral transitional cell carcinoma" EXACT [NCI2004_11_17:C6166] +xref: NCI:C6166 +xref: UMLS_CUI:C0863015 +is_a: DOID:734 ! urethra cancer + +[Term] +id: DOID:4014 +name: sarcomatoid transitional cell carcinoma +def: "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium." [url:http\://www.sciencedirect.com/science/article/pii/S0090429505013439, url:http\://www.tua.org.tw/magazine/FileM/dw2008331112526_10734.pdf] +synonym: "transitional cell carcinoma, sarcomatoid" EXACT [SNOMEDCT_2005_07_31:112676006] +synonym: "transitional spindle cell carcinoma" EXACT [NCI2004_11_17:C4120] +xref: NCI:C4120 +xref: SNOMEDCT_US_2015_03_01:112676006 +xref: UMLS_CUI:C0334271 +is_a: DOID:2671 ! transitional cell carcinoma + +[Term] +id: DOID:4015 +name: spindle cell carcinoma +def: "A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells." [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+carcinoma] +synonym: "sarcomatoid carcinoma" EXACT [SNOMEDCT_2005_07_31:23109009] +synonym: "sarcomatoid carcinoma" EXACT [NCI2004_11_17:C27004] +synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:65692009] +xref: MSH:D002277 +xref: NCI:C27004 +xref: SNOMEDCT_US_2015_03_01:23109009 +xref: SNOMEDCT_US_2015_03_01:65692009 +xref: UMLS_CUI:C0205697 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:402 +name: oral tuberculosis +def: "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16900894] +subset: gram-positive_bacterial_infectious_disease +synonym: "Oral tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:235067001] +xref: MSH:D014393 +xref: SNOMEDCT_US_2015_03_01:235067001 +xref: UMLS_CUI:C0041323 +is_a: DOID:404 ! gastrointestinal tuberculosis + +[Term] +id: DOID:4020 +name: psychomotor disease +synonym: "psychomotor disorder" EXACT [CSP2005:2484-1601] +is_obsolete: true + +[Term] +id: DOID:4022 +name: ureterocele +comment: OMIM mapping confirmed by DO. [LS]. +xref: MSH:D014518 +xref: OMIM:191650 +xref: SNOMEDCT_US_2015_03_01:12818004 +xref: UMLS_CUI:C0041960 +is_a: DOID:1426 ! ureteral disease + +[Term] +id: DOID:4023 +name: linitis plastica +synonym: "Leather-bottle stomach" EXACT [SNOMEDCT_2005_07_31:307594007] +synonym: "Linitis plastica (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:37995004] +xref: MSH:D008039 +xref: NCI:C3190 +xref: SNOMEDCT_US_2015_03_01:307594007 +xref: SNOMEDCT_US_2015_03_01:37995004 +xref: UMLS_CUI:C0023743 +is_a: DOID:6217 ! gastric diffuse adenocarcinoma + +[Term] +id: DOID:4024 +name: scirrhous adenocarcinoma +def: "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." [url:http\://www.online-medical-dictionary.org/Scirrhous+Adenocarcinoma.asp?q=Scirrhous+Adenocarcinoma] +synonym: "adenocarcinoma with Productive Fibrosis" EXACT [NCI2004_11_17:C2928] +synonym: "Scirrhous adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4584002] +xref: MSH:D002293 +xref: NCI:C2928 +xref: SNOMEDCT_US_2015_03_01:4584002 +xref: UMLS_CUI:C0007135 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:4025 +name: steatitis +xref: MSH:D013231 +xref: UMLS_CUI:C0038235 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:4026 +name: vitamin E deficiency +is_obsolete: true + +[Term] +id: DOID:4027 +name: fetal distress +synonym: "FETAL DISTRESS" EXACT [MTH:NOCODE] +synonym: "Fetal distress" EXACT [SNOMEDCT_2005_07_31:267336002] +synonym: "Fetal distress" EXACT [SNOMEDCT_2005_07_31:268873007] +synonym: "Fetal distress" EXACT [SNOMEDCT_2005_07_31:157098009] +synonym: "Fetal distress (finding)" EXACT [SNOMEDCT_2005_07_31:130955003] +synonym: "Fetal distress NOS" EXACT [SNOMEDCT_2005_07_31:157103006] +synonym: "Fetal distress NOS (finding)" EXACT [SNOMEDCT_2005_07_31:199604002] +synonym: "Fetal distress unspecified (finding)" EXACT [SNOMEDCT_2005_07_31:199591006] +is_obsolete: true + +[Term] +id: DOID:4028 +name: angioma serpiginosum +def: "A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin." [url:http\://www.dermnetnz.org/vascular/angioma-serpiginosa.html] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Angioma serpiginosum of skin" EXACT [SNOMEDCT_2005_07_31:195382003] +xref: ICD10CM:L81.7 +xref: MSH:C536366 +xref: NCI:C3926 +xref: OMIM:106050 +xref: OMIM:300652 +xref: OMIM:600652 +xref: ORDO:95429 +xref: SNOMEDCT_US_2015_03_01:11790000 +xref: SNOMEDCT_US_2015_03_01:195382003 +xref: SNOMEDCT_US_2015_03_01:49465005 +xref: UMLS_CUI:C0263637 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:4029 +name: gastritis +alt_id: DOID:4032 +alt_id: DOID:8697 +alt_id: DOID:8845 +alt_id: DOID:9190 +def: "A stomach disease that is an inflammation of the lining of the stomach." [url:http\://en.wikipedia.org/wiki/Gastritis] +synonym: "acute gastric mucosal erosion (disorder)" EXACT [SNOMEDCT_2005_07_31:18665000] +synonym: "acute Gastritis" EXACT [NCI2004_11_17:C26933] +synonym: "acute gastritis with hemorrhage" EXACT [MTHICD9_2006:535.01] +synonym: "acute gastritis without mention of hemorrhage" EXACT [MTHICD9_2006:535.00] +synonym: "acute gastritis, with hemorrhage" EXACT [] +synonym: "acute gastritis, without mention of hemorrhage" EXACT [] +synonym: "acute haemorrhagic gastritis" EXACT [SNOMEDCT_2005_07_31:196732003] +synonym: "chronic Gastritis" EXACT [NCI2004_11_17:C26929] +synonym: "chronic gastritis" EXACT [] +synonym: "chronic gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:8493009] +synonym: "chronic gastritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196736000] +synonym: "Erosive Gastritis" EXACT [NCI2004_11_17:C27013] +synonym: "Erosive gastropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:413216002] +synonym: "Gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:4556007] +synonym: "Gastritis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:235653009] +synonym: "GASTRITIS HEMORRHAGIC" EXACT [MTH:NOCODE] +synonym: "Gastritis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:196743006] +synonym: "Hemorrhagic Gastritis" EXACT [NCI2004_11_17:C26928] +synonym: "Idiopathic erosive/hemorrhagic gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:18338004] +xref: ICD10CM:K29.7 +xref: MSH:D005756 +xref: NCI:C26780 +xref: SNOMEDCT_US_2015_03_01:155711008 +xref: SNOMEDCT_US_2015_03_01:196743006 +xref: SNOMEDCT_US_2015_03_01:235653009 +xref: SNOMEDCT_US_2015_03_01:266503008 +xref: SNOMEDCT_US_2015_03_01:4556007 +xref: UMLS_CUI:C0017152 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:403 +name: mouth disease +def: "A gastrointestinal system disease that is located_in the mouth." [url:http\://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology] +xref: MSH:D009059 +xref: NCI:C27641 +xref: NCI:C3240 +xref: SNOMEDCT_US_2015_03_01:118938008 +xref: SNOMEDCT_US_2015_03_01:155630004 +xref: SNOMEDCT_US_2015_03_01:266484002 +xref: UMLS_CUI:C0026636 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:4030 +name: eosinophilic gastritis +synonym: "Eosinophilic Gastritis" EXACT [NCI2004_11_17:C27052] +synonym: "Eosinophilic gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:66329006] +synonym: "Eosinophilic gastritis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:196738004] +xref: ICD9CM:535.7 +xref: MSH:C535952 +xref: NCI:C27052 +xref: SNOMEDCT_US_2015_03_01:196738004 +xref: SNOMEDCT_US_2015_03_01:66329006 +xref: UMLS_CUI:C0267154 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4031 +name: eosinophilic gastroenteritis +synonym: "Eosinophilic Gastroenteritis" EXACT [NCI2004_11_17:C35330] +synonym: "Eosinophilic gastroenteritis" EXACT [SNOMEDCT_2005_07_31:32183007] +synonym: "Eosinophilic gastroenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:359804008] +xref: ICD9CM:558.41 +xref: MSH:C535952 +xref: NCI:C35330 +xref: SNOMEDCT_US_2015_03_01:32183007 +xref: SNOMEDCT_US_2015_03_01:359804008 +xref: SNOMEDCT_US_2015_03_01:68270003 +xref: UMLS_CUI:C1262481 +is_a: DOID:2326 ! gastroenteritis + +[Term] +id: DOID:4033 +name: bacterial gastritis +def: "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/gastritis/, url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html] +xref: NCI:C27340 +xref: UMLS_CUI:C0948039 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4034 +name: fungal gastritis +def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients." [url:url\:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] +xref: NCI:C27342 +xref: UMLS_CUI:C0948638 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4035 +name: lymphocytic gastritis +synonym: "Lymphocytic Gastritis" EXACT [NCI2004_11_17:C27051] +synonym: "Lymphocytic gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:360375007] +synonym: "Lymphocytic gastritis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:235658000] +xref: NCI:C27051 +xref: SNOMEDCT_US_2015_03_01:235658000 +xref: SNOMEDCT_US_2015_03_01:360375007 +xref: UMLS_CUI:C1283271 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4036 +name: Helicobacter pylori gastritis +def: "A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen." [url:http\://jcp.bmjjournals.com/content/54/10/774.full, url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html] +subset: gram-negative_bacterial_infectious_disease +synonym: "Helicobacter gastritis" EXACT [SNOMEDCT_2005_07_31:186143000] +synonym: "Helicobacter gastritis" EXACT [SNOMEDCT_2005_07_31:196741008] +synonym: "Helicobacter gastritis" EXACT [SNOMEDCT_2005_07_31:155716003] +synonym: "Helicobacter-associated gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:89538001] +is_obsolete: true + +[Term] +id: DOID:4037 +name: necrotizing gastritis +xref: NCI:C27329 +xref: UMLS_CUI:C0877152 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4038 +name: granulomatous gastritis +xref: ICD10CM:K29.6 +xref: NCI:C27348 +xref: UMLS_CUI:C1112577 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:4039 +name: Crohn's associated gastritis +is_obsolete: true + +[Term] +id: DOID:404 +name: gastrointestinal tuberculosis +alt_id: DOID:9802 +def: "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting." [url:http\://emedicine.medscape.com/article/376015-overview, url:http\://smj.sma.org.sg/5006/5006pe1.pdf, url:http\://www.ncbi.nlm.nih.gov/pubmed/12864956] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of gastrointestinal tract" EXACT [SNOMEDCT_2005_07_31:154286002] +synonym: "Tuberculosis of gastrointestinal tract (disorder)" EXACT [SNOMEDCT_2005_07_31:240376003] +synonym: "Tuberculosis of gastrointestinal tract NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186228005] +synonym: "tuberculosis of intestines, peritoneum and mesenteric glands" EXACT [] +synonym: "Tuberculosis of intestines, peritoneum and mesenteric glands (disorder)" EXACT [SNOMEDCT_2005_07_31:186225008] +synonym: "Tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [ICD9CM_2006:014] +xref: MSH:D014385 +xref: SNOMEDCT_US_2015_03_01:154286002 +xref: SNOMEDCT_US_2015_03_01:186228005 +xref: SNOMEDCT_US_2015_03_01:240376003 +xref: UMLS_CUI:C0041312 +is_a: DOID:0050599 ! abdominal tuberculosis + +[Term] +id: DOID:4043 +name: skeletal muscle cancer +synonym: "malignant tumor of Skeletal Muscle" EXACT [NCI2004_11_17:C6516] +xref: NCI:C6516 +xref: UMLS_CUI:C1334619 +is_a: DOID:4045 ! muscle cancer + +[Term] +id: DOID:4044 +name: skeletal muscle neoplasm +synonym: "tumor of Skeletal Muscle" EXACT [NCI2004_11_17:C6514] +xref: NCI:C6514 +xref: SNOMEDCT_US_2015_03_01:189798004 +xref: SNOMEDCT_US_2015_03_01:189800006 +xref: SNOMEDCT_US_2015_03_01:402877008 +xref: SNOMEDCT_US_2015_03_01:699955004 +xref: UMLS_CUI:C1335971 +is_a: DOID:461 ! muscle benign neoplasm + +[Term] +id: DOID:4045 +name: muscle cancer +alt_id: DOID:4046 +def: "A musculoskeletal system cancer that is located_in muscle." [url:http\://en.wikipedia.org/wiki/Muscle] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of muscle, NOS" EXACT [SNOMEDCT_2005_07_31:93913006] +synonym: "malignant tumor of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:363495004] +synonym: "malignant tumor of the Muscle" EXACT [NCI2004_11_17:C4883] +synonym: "myosarcoma" EXACT [] +synonym: "Myosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:20667008] +xref: ICD10CM:C49 +xref: MSH:D009217 +xref: MSH:D019042 +xref: NCI:C4883 +xref: SNOMEDCT_US_2015_03_01:20667008 +xref: SNOMEDCT_US_2015_03_01:363495004 +xref: SNOMEDCT_US_2015_03_01:93913006 +xref: UMLS_CUI:C0027095 +xref: UMLS_CUI:C0684743 +is_a: DOID:0060100 ! musculoskeletal system cancer + +[Term] +id: DOID:4047 +name: liver rhabdomyosarcoma +def: "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6] +synonym: "Rhabdomyosarcoma of Liver" EXACT [NCI2004_11_17:C5834] +xref: NCI:C5834 +xref: UMLS_CUI:C1333975 +is_a: DOID:270 ! liver sarcoma + +[Term] +id: DOID:4048 +name: central nervous system rhabdomyosarcoma +synonym: "Rhabdomyosarcoma of the CNS" EXACT [NCI2004_11_17:C5464] +xref: NCI:C5464 +xref: UMLS_CUI:C1332891 +is_a: DOID:2133 ! central nervous system sarcoma + +[Term] +id: DOID:4049 +name: mediastinum rhabdomyosarcoma +def: "A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents." [url:http\://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=655;epage=656;aulast=Moorthy] +synonym: "Rhabdomyosarcoma of mediastinum" EXACT [NCI2004_11_17:C6617] +xref: NCI:C6617 +xref: UMLS_CUI:C1334677 +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:4050 +name: mediastinum sarcoma +def: "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum." [url:http\://www.searchmedica.com/search.html?q=mediastinal%20sarcoma] +synonym: "sarcoma of mediastinum" EXACT [NCI2004_11_17:C6606] +xref: NCI:C6606 +xref: UMLS_CUI:C1334678 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:4051 +name: alveolar rhabdomyosarcoma +alt_id: DOID:4382 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "alveolar childhood rhabdomyosarcoma" EXACT [] +synonym: "Alveolar Rhabdomyosarcoma" EXACT [NCI2004_11_17:C3749] +synonym: "Alveolar rhabdomyosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404053004] +synonym: "Alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:63449009] +synonym: "pediatric Alveolar Rhabdomyosarcoma" EXACT [NCI2004_11_17:C7958] +xref: MSH:D018232 +xref: NCI:C3749 +xref: NCI:C7958 +xref: OMIM:268220 +xref: SNOMEDCT_US_2015_03_01:404053004 +xref: SNOMEDCT_US_2015_03_01:63449009 +xref: UMLS_CUI:C0206655 +xref: UMLS_CUI:C0279613 +is_a: DOID:3247 ! rhabdomyosarcoma + +[Term] +id: DOID:4052 +name: rhabdomyosarcoma recurrent +synonym: "relapsed Rhabdomyosarcoma" EXACT [NCI2004_11_17:C8824] +is_obsolete: true + +[Term] +id: DOID:4053 +name: rectum rhabdomyosarcoma +def: "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] +synonym: "Rhabdomyosarcoma of rectum" EXACT [NCI2004_11_17:C5627] +xref: NCI:C5627 +xref: UMLS_CUI:C1335687 +is_a: DOID:1995 ! rectum sarcoma + +[Term] +id: DOID:4054 +name: prostate sarcoma +def: "A prostate cancer that is located_in the prostate." [url:http\://www.searchmedica.com/search.html?q=prostate%20sarcoma] +synonym: "sarcoma of the prostate" EXACT [NCI2004_11_17:C7731] +xref: NCI:C7731 +xref: UMLS_CUI:C0238393 +is_a: DOID:10283 ! prostate cancer + +[Term] +id: DOID:4055 +name: ectomesenchymoma +synonym: "Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128750008] +xref: NCI:C4716 +xref: SNOMEDCT_US_2015_03_01:128750008 +xref: UMLS_CUI:C0431111 +is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor + +[Term] +id: DOID:4056 +name: adult rhabdomyosarcoma +is_obsolete: true + +[Term] +id: DOID:4057 +name: gallbladder rhabdomyosarcoma +def: "A gallbladder sarcoma that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma, url:http\://gut.bmj.com/content/35/6/854] +synonym: "Rhabdomyosarcoma of the gallbladder" EXACT [NCI2004_11_17:C5839] +xref: NCI:C5839 +xref: UMLS_CUI:C1333756 +is_a: DOID:4058 ! gallbladder sarcoma + +[Term] +id: DOID:4058 +name: gallbladder sarcoma +def: "A sarcoma that is located_in the gallbladder." [url:http\://www.searchmedica.com/search.html?q=gallbladder%20sarcoma&c=pc&ss=defLink&fr=true] +synonym: "malignant mesenchymal tumor of gallbladder" EXACT [NCI2004_11_17:C5736] +xref: NCI:C5736 +xref: UMLS_CUI:C1333757 +is_a: DOID:3121 ! gallbladder cancer + +[Term] +id: DOID:4059 +name: ovary rhabdomyosarcoma +synonym: "Rhabdomyosarcoma of Ovary" EXACT [NCI2004_11_17:C5236] +xref: NCI:C5236 +xref: UMLS_CUI:C1335176 +is_a: DOID:2146 ! ovary sarcoma + +[Term] +id: DOID:4060 +name: breast rhabdomyosarcoma +synonym: "Rhabdomyosarcoma of the breast" EXACT [NCI2004_11_17:C5190] +xref: NCI:C5190 +xref: UMLS_CUI:C1332637 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:4061 +name: testis rhabdomyosarcoma +def: "A testis sarcoma that arises from mesenchymal cells and is located_in the testis." [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21470524] +synonym: "Rhabdomyosarcoma of testis" EXACT [NCI2004_11_17:C6378] +xref: NCI:C6378 +xref: UMLS_CUI:C1336726 +is_a: DOID:4062 ! testis sarcoma + +[Term] +id: DOID:4062 +name: testis sarcoma +def: "A sarcoma and malignant neoplasm of testis that is located_in the testis." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss=] +synonym: "sarcoma of testis" EXACT [NCI2004_11_17:C6359] +xref: NCI:C6359 +xref: UMLS_CUI:C1336727 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:4064 +name: bile duct sarcoma +def: "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Sarcoma_botryoides] +synonym: "sarcoma of the bile duct" EXACT [NCI2004_11_17:C5029] +xref: NCI:C5029 +xref: UMLS_CUI:C2205442 +is_a: DOID:4606 ! bile duct cancer + +[Term] +id: DOID:4065 +name: mixed type rhabdomyosarcoma +synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [SNOMEDCT_2005_07_31:62383007] +synonym: "mixed type Rhabdomyosarcoma" EXACT [NCI2004_11_17:C4259] +xref: SNOMEDCT_US_2015_03_01:62383007 +xref: UMLS_CUI:C0334481 +is_a: DOID:3247 ! rhabdomyosarcoma + +[Term] +id: DOID:4066 +name: anus rhabdomyosarcoma +def: "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus." [url:http\://wiki.medpedia.com/Childhood_Rhabdomyosarcoma] +synonym: "rhabdomyosarcoma of anus" EXACT [NCI2004_11_17:C5610] +xref: NCI:C5610 +xref: UMLS_CUI:C1332276 +is_a: DOID:4067 ! anus sarcoma + +[Term] +id: DOID:4067 +name: anus sarcoma +def: "A sarcoma and malignant neoplasm of anus that is located_in the anus." [url:http\://en.wikipedia.org/wiki/Sarcoma] +synonym: "sarcoma of anus" EXACT [NCI2004_11_17:C5611] +xref: NCI:C5611 +xref: UMLS_CUI:C1332277 +is_a: DOID:14110 ! anus cancer + +[Term] +id: DOID:407 +name: hepatic tuberculosis +def: "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." [url:http\://lrsitbrd.nic.in/IJTB/Year%201994/July%201994/July%201994%20B.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:186273003] +xref: MSH:D014386 +xref: SNOMEDCT_US_2015_03_01:186273003 +xref: UMLS_CUI:C0041313 +is_a: DOID:404 ! gastrointestinal tuberculosis + +[Term] +id: DOID:4071 +name: duodenogastric reflux +synonym: "Duodenogastric reflux (finding)" EXACT [SNOMEDCT_2005_07_31:9733003] +xref: MSH:D004383 +xref: SNOMEDCT_US_2015_03_01:9733003 +xref: UMLS_CUI:C0013299 +is_a: DOID:4072 ! duodenal disease +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:4072 +name: duodenal disease +synonym: "duodenum disorder" EXACT [CSP2005:1248-4501] +xref: MSH:D004378 +xref: SNOMEDCT_US_2015_03_01:196598004 +xref: SNOMEDCT_US_2015_03_01:52182008 +xref: UMLS_CUI:C0013289 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:4073 +name: pancreatic cystadenocarcinoma +synonym: "cystadenocarcinoma of pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:235966007] +xref: NCI:C3874 +xref: SNOMEDCT_US_2015_03_01:235966007 +xref: UMLS_CUI:C0238337 +is_a: DOID:4074 ! pancreas adenocarcinoma + +[Term] +id: DOID:4074 +name: pancreas adenocarcinoma +def: "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of the pancreas" RELATED [] +synonym: "pancreatic adenocarcinoma" EXACT [NCI2004_11_17:C8294] +xref: NCI:C8294 +xref: SNOMEDCT_US_2015_03_01:700423003 +xref: UMLS_CUI:C0281361 +is_a: DOID:4905 ! pancreatic carcinoma + +[Term] +id: DOID:4075 +name: bile duct cystadenocarcinoma +synonym: "bile duct cystadenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:50422007] +synonym: "biliary cystadenocarcinoma" EXACT [NCI2004_11_17:C4130] +xref: NCI:C4130 +xref: SNOMEDCT_US_2015_03_01:50422007 +xref: UMLS_CUI:C0334286 +is_a: DOID:4896 ! bile duct adenocarcinoma + +[Term] +id: DOID:4076 +name: pleomorphic adenoma of the breast +is_obsolete: true + +[Term] +id: DOID:4077 +name: metastasizing mixed tumor of salivary gland +is_obsolete: true + +[Term] +id: DOID:4078 +name: tricuspid valve stenosis +def: "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." [url:http\://en.wikipedia.org/wiki/Tricuspid_valve_stenosis] +synonym: "Tricuspid stenosis" EXACT [SNOMEDCT_2005_07_31:155346002] +synonym: "Tricuspid stenosis" EXACT [SNOMEDCT_2005_07_31:266296006] +synonym: "Tricuspid stenosis" EXACT [MTHICD9_2006:397.0] +synonym: "Tricuspid valve stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:49915006] +xref: MSH:D014264 +xref: NCI:C50783 +xref: SNOMEDCT_US_2015_03_01:155346002 +xref: SNOMEDCT_US_2015_03_01:266296006 +xref: SNOMEDCT_US_2015_03_01:49915006 +xref: UMLS_CUI:C0040963 +is_a: DOID:0050826 ! tricuspid valve disease + +[Term] +id: DOID:4079 +name: heart valve disease +alt_id: DOID:989 +def: "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)." [url:http\://en.wikipedia.org/wiki/Heart_valve_disease] +synonym: "Valvular heart disease (disorder)" EXACT [SNOMEDCT_2005_07_31:195013005] +xref: MSH:D006349 +xref: MSH:D016127 +xref: NCI:C45525 +xref: SNOMEDCT_US_2015_03_01:195013005 +xref: SNOMEDCT_US_2015_03_01:368009 +xref: SNOMEDCT_US_2015_03_01:398995000 +xref: UMLS_CUI:C0018824 +xref: UMLS_CUI:C0079485 +is_a: DOID:114 ! heart disease + +[Term] +id: DOID:4080 +name: tricuspid valve insufficiency +def: "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal." [url:http\://en.wikipedia.org/wiki/Tricuspid_insufficiency] +synonym: "Tricuspid incompetence" EXACT [SNOMEDCT_2005_07_31:155347006] +synonym: "Tricuspid incompetence" EXACT [SNOMEDCT_2005_07_31:266298007] +synonym: "Tricuspid regurgitation" EXACT [SNOMEDCT_2005_07_31:251009000] +synonym: "Tricuspid regurgitation" EXACT [MTHICD9_2006:397.0] +synonym: "Tricuspid valve regurgitation (disorder)" EXACT [SNOMEDCT_2005_07_31:111287006] +xref: MSH:D014262 +xref: NCI:C50842 +xref: NCI:C50843 +xref: SNOMEDCT_US_2015_03_01:111287006 +xref: SNOMEDCT_US_2015_03_01:155347006 +xref: SNOMEDCT_US_2015_03_01:251009000 +xref: SNOMEDCT_US_2015_03_01:266298007 +xref: UMLS_CUI:C0040961 +is_a: DOID:0050826 ! tricuspid valve disease + +[Term] +id: DOID:4084 +name: testicular trophoblastic tumor +xref: NCI:C39934 +xref: UMLS_CUI:C1515301 +is_a: DOID:4085 ! trophoblastic neoplasm + +[Term] +id: DOID:4085 +name: trophoblastic neoplasm +def: "A germ cell and embryonal cancer that derives_from trophoblastic tissue." [url:http\://en.wikipedia.org/wiki/Trophoblastic_neoplasm] +synonym: "Trophoblastic neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115234004] +synonym: "Trophoblastic neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189855009] +synonym: "Trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189858006] +synonym: "Trophoblastic tumor" EXACT [NCI2004_11_17:C3422] +synonym: "Trophoblastic tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134334000] +xref: MSH:D014328 +xref: NCI:C3422 +xref: SNOMEDCT_US_2015_03_01:115234004 +xref: SNOMEDCT_US_2015_03_01:134334000 +xref: SNOMEDCT_US_2015_03_01:189855009 +xref: SNOMEDCT_US_2015_03_01:189858006 +xref: UMLS_CUI:C0041182 +is_a: DOID:3095 ! germ cell and embryonal cancer + +[Term] +id: DOID:4086 +name: testicular germ cell tumor non-seminomatous +xref: NCI:C9313 +xref: UMLS_CUI:C1336724 +is_a: DOID:5557 ! testicular germ cell cancer + +[Term] +id: DOID:4087 +name: testicular pure germ cell tumor +xref: NCI:C39915 +xref: UMLS_CUI:C1514608 +is_a: DOID:5557 ! testicular germ cell cancer + +[Term] +id: DOID:4088 +name: Torovirus infectious disease +def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." [url:http\://www.expasy.org/viralzone/all_by_species/127.html] +is_obsolete: true + +[Term] +id: DOID:409 +name: liver disease +alt_id: DOID:2164 +alt_id: DOID:2165 +alt_id: DOID:46 +synonym: "disorder of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:235856003] +synonym: "hepatic disorder" EXACT [NCI2004_11_17:C3196] +xref: ICD10CM:K70-K77 +xref: ICD10CM:K76.9 +xref: ICD9CM:573.9 +xref: MSH:D008107 +xref: NCI:C3196 +xref: SNOMEDCT_US_2015_03_01:155807008 +xref: SNOMEDCT_US_2015_03_01:155817003 +xref: SNOMEDCT_US_2015_03_01:155822003 +xref: SNOMEDCT_US_2015_03_01:197375001 +xref: SNOMEDCT_US_2015_03_01:197551000 +xref: SNOMEDCT_US_2015_03_01:235856003 +xref: SNOMEDCT_US_2015_03_01:266535008 +xref: SNOMEDCT_US_2015_03_01:62857009 +xref: UMLS_CUI:C0023895 +is_a: DOID:3118 ! hepatobiliary disease + +[Term] +id: DOID:4090 +name: agnosia +alt_id: DOID:4019 +def: "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." [url:http\://en.wikipedia.org/wiki/Agnosia] +synonym: "Dyspraxia (finding)" EXACT [SNOMEDCT_2005_07_31:6950007] +synonym: "Dyspraxia syndrome" EXACT [MTHICD9_2006:315.4, SNOMEDCT_2005_07_31:192146008] +xref: ICD10CM:R48.1 +xref: ICD10CM:R48.2 +xref: MSH:D000377 +xref: MSH:D001072 +xref: NCI:C84542 +xref: SNOMEDCT_US_2015_03_01:158320000 +xref: SNOMEDCT_US_2015_03_01:158322008 +xref: SNOMEDCT_US_2015_03_01:192146008 +xref: SNOMEDCT_US_2015_03_01:206989009 +xref: SNOMEDCT_US_2015_03_01:206991001 +xref: SNOMEDCT_US_2015_03_01:250058008 +xref: SNOMEDCT_US_2015_03_01:271724003 +xref: SNOMEDCT_US_2015_03_01:42341009 +xref: SNOMEDCT_US_2015_03_01:68345001 +xref: SNOMEDCT_US_2015_03_01:6950007 +xref: UMLS_CUI:C0001816 +xref: UMLS_CUI:C0003635 +is_a: DOID:2033 ! communication disorder + +[Term] +id: DOID:4091 +name: Caliciviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." [url:http\://en.wikipedia.org/wiki/Caliciviridae] +is_obsolete: true + +[Term] +id: DOID:4092 +name: vesicular exanthema of swine +def: "A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm] +synonym: "VES" EXACT [SNOMEDCT_2005_07_31:17811000] +is_obsolete: true + +[Term] +id: DOID:4099 +name: metastatic squamous cell carcinoma +synonym: "metastatic squamous cell carcinoma" EXACT [NCI2004_11_17:C4104] +synonym: "metastatic squamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403906006] +synonym: "squamous cell carcinoma, metastatic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:64204000] +synonym: "squamous cell carcinoma, metastatic NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189567004] +is_obsolete: true + +[Term] +id: DOID:410 +name: tuberculous ascites +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculous Ascites" EXACT [NCI2004_11_17:C27076] +synonym: "Tuberculous ascites (disorder)" EXACT [SNOMEDCT_2005_07_31:4501007] +is_obsolete: true + +[Term] +id: DOID:4102 +name: secondary carcinoma +synonym: "secondary carcinoma" EXACT [SNOMEDCT_2005_07_31:79282002] +synonym: "secondary carcinoma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:287689004] +is_obsolete: true + +[Term] +id: DOID:4104 +name: rinderpest +def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract." [url:http\://en.wikipedia.org/wiki/Rinderpest] +synonym: "cattle plague" EXACT [] +synonym: "steppe murrain" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4105 +name: canine distemper +def: "A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching." [url:http\://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp] +is_obsolete: true + +[Term] +id: DOID:4106 +name: commensal Bacteroidaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4107 +name: primary Flavobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4109 +name: tick infestation +def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." [url:http\://en.wikipedia.org/wiki/Tick, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm] +xref: MSH:D013984 +xref: UMLS_CUI:C0040196 +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:411 +name: bovine tuberculosis +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Bovine tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:61888006] +synonym: "Infection due to Mycobacterium bovis (disorder)" EXACT [SNOMEDCT_2005_07_31:373437006] +is_obsolete: true + +[Term] +id: DOID:4110 +name: parasitic ectoparasitic infectious disease +def: "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host." [url:http\://en.wikipedia.org/wiki/Ectoparasitic_infestation] +synonym: "ectoparasitism" EXACT [CSP2005:2214-2667] +xref: MSH:D004478 +xref: UMLS_CUI:C0013578 +is_a: DOID:1398 ! parasitic infectious disease + +[Term] +id: DOID:4111 +name: cervical adenosarcoma +def: "A cervical carcinosarcoma that is located_in the cervix." [url:http\://dx.doi.org/10.1016/j.ygyno.2006.12.029] +synonym: "cervical mullerian adenosarcoma" EXACT [] +xref: NCI:C40229 +xref: UMLS_CUI:C1516426 +is_a: DOID:4112 ! cervical carcinosarcoma + +[Term] +id: DOID:4112 +name: cervical carcinosarcoma +alt_id: DOID:4431 +alt_id: DOID:6173 +synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [] +synonym: "cervical malignant mixed Mullerian tumor" EXACT [] +synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [] +xref: NCI:C36097 +xref: NCI:C40226 +xref: NCI:C40228 +xref: UMLS_CUI:C1332917 +xref: UMLS_CUI:C1516420 +xref: UMLS_CUI:C1518168 +is_a: DOID:4362 ! cervical cancer + +[Term] +id: DOID:4113 +name: uterine corpus adenosarcoma +def: "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus." [url:http\://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm] +synonym: "adenosarcoma of uterine corpus" RELATED [] +synonym: "uterine Corpus mullerian adenosarcoma" EXACT [NCI2004_11_17:C6336] +xref: NCI:C6336 +xref: UMLS_CUI:C1336917 +is_a: DOID:1974 ! adenosarcoma +is_a: DOID:4114 ! uterine body mixed cancer + +[Term] +id: DOID:4114 +name: uterine body mixed cancer +def: "A uterine corpus cancer that has_material_basis_in more than one type of cell." [url:http\://en.wikipedia.org/wiki/Uterine_cancer] +synonym: "malignant mixed tumor of Corpus Uteri" EXACT [NCI2004_11_17:C6311] +xref: NCI:C6311 +xref: UMLS_CUI:C1334628 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:4115 +name: ovarian mesodermal adenosarcoma +def: "An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary." [url:http\://www.google.com/search?q=ovarian+mesodermal+adenosarcoma&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla\:en-US\:official&client=firefox-a] +synonym: "Ovarian mullerian Adenosarcoma" EXACT [NCI2004_11_17:C7317] +xref: NCI:C7317 +xref: UMLS_CUI:C1335169 +is_a: DOID:6170 ! ovarian carcinosarcoma + +[Term] +id: DOID:4117 +name: vaginal adenosarcoma +def: "A vaginal carcinosarcoma derives_from the glands that line the uterus." [url:http\://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm] +xref: NCI:C40277 +xref: UMLS_CUI:C1519914 +is_a: DOID:136 ! vaginal carcinosarcoma + +[Term] +id: DOID:4118 +name: colon neuroendocrine neoplasm +synonym: "Colonic neuroendocrine tumor" EXACT [NCI2004_11_17:C5697] +xref: NCI:C5697 +xref: UMLS_CUI:C1333097 +is_a: DOID:235 ! colonic benign neoplasm + +[Term] +id: DOID:4119 +name: intestinal neuroendocrine benign tumor +synonym: "neuroendocrine tumor of Intestine" EXACT [NCI2004_11_17:C5695] +xref: NCI:C5695 +xref: UMLS_CUI:C1334231 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:412 +name: atypical Mycobacterium infectious disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Atypical mycobacterium infection NOS" EXACT [MTHICD9_2006:031.9] +synonym: "Infection due to mycobacterium, non-TB" EXACT [SNOMEDCT_2005_07_31:111812000] +synonym: "Infection due to mycobacterium, non-TB" EXACT [SNOMEDCT_2005_07_31:373087006] +synonym: "Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder)" EXACT [SNOMEDCT_2005_07_31:111811007] +synonym: "Mycobacterial infection, NOS (excluding tuberculosis and leprosy)" EXACT [SNOMEDCT_2005_07_31:88415009] +is_obsolete: true + +[Term] +id: DOID:4121 +name: West Nile virus infectious disease +def: "A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back." [url:http\://en.wikipedia.org/wiki/West_Nile_virus, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4123 +name: nail disease +def: "An integumentary system disease that is located_in nail." [url:http\://en.wikipedia.org/wiki/Nail_disease] +xref: ICD10CM:L60 +xref: ICD10CM:L60.9 +xref: ICD9CM:703 +xref: ICD9CM:703.9 +xref: MSH:D009260 +xref: SNOMEDCT_US_2015_03_01:156401005 +xref: SNOMEDCT_US_2015_03_01:17790008 +xref: SNOMEDCT_US_2015_03_01:201127007 +xref: SNOMEDCT_US_2015_03_01:267861009 +xref: UMLS_CUI:C0027339 +is_a: DOID:16 ! integumentary system disease + +[Term] +id: DOID:413 +name: avian tuberculosis +def: "A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense." [url:http\://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Avian tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:371684009] +synonym: "Avian tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:55356004] +synonym: "Infection due to Mycobacterium avium (disorder)" EXACT [SNOMEDCT_2005_07_31:371685005] +is_obsolete: true + +[Term] +id: DOID:4131 +name: erythrasma +synonym: "Erythrasma (disorder)" EXACT [SNOMEDCT_2005_07_31:238418005] +synonym: "Erythrasma (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:111797001] +synonym: "Infection due to Corynebacterium minutissimum (disorder)" EXACT [SNOMEDCT_2005_07_31:264207005] +xref: ICD10CM:L08.1 +xref: MSH:D004894 +xref: SNOMEDCT_US_2015_03_01:111797001 +xref: SNOMEDCT_US_2015_03_01:154314007 +xref: SNOMEDCT_US_2015_03_01:186393009 +xref: SNOMEDCT_US_2015_03_01:200726000 +xref: SNOMEDCT_US_2015_03_01:238418005 +xref: SNOMEDCT_US_2015_03_01:266185008 +xref: UMLS_CUI:C0014752 +is_a: DOID:4223 ! pyoderma + +[Term] +id: DOID:4136 +name: myxosarcoma +synonym: "Myxosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28351005] +xref: MSH:D009236 +xref: NCI:C3255 +xref: SNOMEDCT_US_2015_03_01:28351005 +xref: UMLS_CUI:C0027155 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:4137 +name: common bile duct disease +xref: MSH:D003137 +xref: UMLS_CUI:C0009440 +is_a: DOID:4138 ! bile duct disease + +[Term] +id: DOID:4138 +name: bile duct disease +synonym: "bile duct disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197455006] +synonym: "disorder of bile duct (disorder)" EXACT [SNOMEDCT_2005_07_31:118926004] +xref: MSH:D001649 +xref: NCI:C96716 +xref: SNOMEDCT_US_2015_03_01:118926004 +xref: SNOMEDCT_US_2015_03_01:197455006 +xref: UMLS_CUI:C0005395 +is_a: DOID:9741 ! biliary tract disease + +[Term] +id: DOID:414 +name: cardiovascular tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4140 +name: biliary dyskinesia +alt_id: DOID:4139 +def: "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." [url:http\://en.wikipedia.org/wiki/Biliary_dyskinesia] +synonym: "sphincter of oddi dysfunction" EXACT [] +xref: HP:0012396 +xref: MSH:D001657 +xref: SNOMEDCT_US_2015_03_01:197432008 +xref: SNOMEDCT_US_2015_03_01:43469007 +xref: UMLS_CUI:C0005416 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:4141 +name: intraorbital meningioma +def: "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance." [url:http\://www.mayfieldclinic.com/pe-meni.htm] +xref: MSH:D008579 +xref: NCI:C6778 +xref: UMLS_CUI:C1334261 +is_a: DOID:4143 ! orbital cancer + +[Term] +id: DOID:4142 +name: meningioma by site +is_obsolete: true + +[Term] +id: DOID:4143 +name: orbital cancer +alt_id: DOID:9984 +def: "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." [url:http\://eyecancer.com/Patient/Condition.aspx?nID=19&Category=Orbital+Tumors&Condition=General+Information+About+Orbital+Tumors] +synonym: "malignant neoplasm of orbit" EXACT [ICD9CM_2006:190.1] +synonym: "neoplasm of orbit proper (disorder)" EXACT [SNOMEDCT_2005_07_31:127003006] +synonym: "orbit cancer" EXACT [] +synonym: "orbital tumor" EXACT [NCI2004_11_17:C3290] +xref: ICD10CM:C69.6 +xref: ICD9CM:190.1 +xref: MSH:D009918 +xref: NCI:C3290 +xref: NCI:C3562 +xref: SNOMEDCT_US_2015_03_01:127003006 +xref: SNOMEDCT_US_2015_03_01:188270008 +xref: SNOMEDCT_US_2015_03_01:363462005 +xref: SNOMEDCT_US_2015_03_01:93932000 +xref: UMLS_CUI:C0029185 +xref: UMLS_CUI:C0153626 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:4144 +name: herpes zoster dermatitis +synonym: "Herpes zoster dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:400020001] +is_obsolete: true + +[Term] +id: DOID:4147 +name: gastrointestinal adenoma +synonym: "GI adenoma" EXACT [] +xref: NCI:C36207 +xref: UMLS_CUI:C0948101 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:4148 +name: gastrointestinal neuroendocrine benign tumor +xref: NCI:C27721 +xref: UMLS_CUI:C1333799 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:4151 +name: skull base chordoma +def: "A chordoma that is located_in the skull base." [url:http\://www.bcm.edu/oto/grand/10192.html] +synonym: "Chordoma of the Skull Base" EXACT [NCI2004_11_17:C5453] +xref: NCI:C5453 +xref: UMLS_CUI:C1335975 +is_a: DOID:3302 ! chordoma + +[Term] +id: DOID:4152 +name: chondroid chordoma +def: "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma." [url:http\://www.bcm.edu/oto/grand/10192.html] +synonym: "Chondroid chordoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128784007] +xref: NCI:C6902 +xref: SNOMEDCT_US_2015_03_01:128784007 +xref: UMLS_CUI:C1266173 +is_a: DOID:3302 ! chordoma + +[Term] +id: DOID:4153 +name: spinal chordoma +def: "A chordoma that derives_from the spine." [url:http\://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html] +synonym: "Chordoma of Spine" EXACT [NCI2004_11_17:C5156] +xref: NCI2009_04D:C5156 +is_a: DOID:3302 ! chordoma + +[Term] +id: DOID:4154 +name: dentinogenesis imperfecta +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:K00.5 +xref: MSH:D003811 +xref: NCI:C84667 +xref: OMIM:125490 +xref: OMIM:125500 +xref: SNOMEDCT_US_2015_03_01:196286005 +xref: SNOMEDCT_US_2015_03_01:367461002 +xref: SNOMEDCT_US_2015_03_01:45742009 +xref: UMLS_CUI:C0011436 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:4156 +name: primary syphilis +def: "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "early symptomatic syphilis" EXACT [] +synonym: "early symptomatic syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:186846005] +synonym: "early syphilis, symptomatic" EXACT [ICD9CM_2006:091] +synonym: "Symptomatic early syphilis (disorder)" EXACT [SNOMEDCT_2005_07_31:57334003] +xref: ICD9CM:091 +xref: SNOMEDCT_US_2015_03_01:186846005 +xref: SNOMEDCT_US_2015_03_01:57334003 +xref: UMLS_CUI:C0153139 +is_a: DOID:4166 ! syphilis + +[Term] +id: DOID:4157 +name: secondary syphilis +alt_id: DOID:12122 +def: "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "secondary syphilis of viscera or bone" EXACT [] +xref: ICD9CM:091.9 +xref: MSH:C536773 +xref: SNOMEDCT_US_2015_03_01:154382002 +xref: SNOMEDCT_US_2015_03_01:186865002 +xref: SNOMEDCT_US_2015_03_01:240557004 +xref: UMLS_CUI:C0149985 +is_a: DOID:4166 ! syphilis + +[Term] +id: DOID:4159 +name: skin cancer +def: "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002414/] +subset: TopNodes_DOcancerslim +synonym: "CA - skin cancer" EXACT [SNOMEDCT_2005_07_31:363511009] +synonym: "cancer of skin" RELATED [] +synonym: "malignant neoplasm of skin" EXACT [MTH:NOCODE] +synonym: "melanoma and Non-melanoma skin cancer" EXACT [NCI2004_11_17:C2920] +xref: MSH:D012878 +xref: NCI:C2920 +xref: SNOMEDCT_US_2015_03_01:188143008 +xref: SNOMEDCT_US_2015_03_01:190107001 +xref: SNOMEDCT_US_2015_03_01:363511009 +xref: SNOMEDCT_US_2015_03_01:372130007 +xref: SNOMEDCT_US_2015_03_01:94047004 +xref: UMLS_CUI:C0007114 +is_a: DOID:0060122 ! integumentary system cancer + +[Term] +id: DOID:4160 +name: differentiating neuroblastoma +xref: NCI:C42048 +xref: UMLS_CUI:C1511934 +is_a: DOID:769 ! neuroblastoma + +[Term] +id: DOID:4161 +name: relapsed neuroblastoma +is_obsolete: true + +[Term] +id: DOID:4163 +name: ganglioneuroblastoma +synonym: "Ganglioneuroblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:69515008] +xref: MSH:D018305 +xref: NCI:C3790 +xref: SNOMEDCT_US_2015_03_01:69515008 +xref: UMLS_CUI:C0206718 +is_a: DOID:769 ! neuroblastoma + +[Term] +id: DOID:4164 +name: cerebral neuroblastoma +synonym: "neuroblastoma of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:281560004] +synonym: "neuroblastoma of Cerebrum" EXACT [NCI2004_11_17:C4826] +synonym: "neuroblastoma of the cerebral hemisphere" EXACT [] +xref: NCI:C4826 +xref: SNOMEDCT_US_2015_03_01:281560004 +xref: UMLS_CUI:C0559458 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:4165 +name: regional neuroblastoma +is_obsolete: true + +[Term] +id: DOID:4166 +name: syphilis +alt_id: DOID:11095 +def: "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." [url:http\://emedicine.medscape.com/article/229461-overview#a0101, url:http\://en.wikipedia.org/wiki/Syphilis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "syphilitic chancre" EXACT [] +xref: ICD10CM:A51.0 +xref: MSH:D002601 +xref: SNOMEDCT_US_2015_03_01:266127002 +xref: SNOMEDCT_US_2015_03_01:58433006 +xref: UMLS_CUI:C0007939 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:417 +name: hypersensitivity reaction type II disease +def: "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_disease] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "autoimmune disease" EXACT [] +xref: ICD9CM:720 +xref: UMLS_CUI:C0003089 +is_a: DOID:0060056 ! hypersensitivity reaction disease + +[Term] +id: DOID:4170 +name: localized resectable neuroblastoma +is_obsolete: true + +[Term] +id: DOID:4172 +name: localized unresectable neuroblastoma +is_obsolete: true + +[Term] +id: DOID:4173 +name: disseminated neuroblastoma +synonym: "metastatic neuroblastoma" EXACT [NCI2004_11_17:C6641] +is_obsolete: true + +[Term] +id: DOID:4175 +name: Rh isoimmunization +synonym: "Rh incompatibility affecting management of mother" EXACT [MTHICD9_2006:656.1] +xref: MSH:D012203 +xref: NCI:C113150 +xref: SNOMEDCT_US_2015_03_01:156182009 +xref: SNOMEDCT_US_2015_03_01:199580004 +xref: SNOMEDCT_US_2015_03_01:199581000 +xref: SNOMEDCT_US_2015_03_01:199584008 +xref: SNOMEDCT_US_2015_03_01:44795003 +xref: UMLS_CUI:C0035404 +is_a: DOID:4176 ! blood group incompatibility + +[Term] +id: DOID:4176 +name: blood group incompatibility +xref: CSP:0440-3703 +xref: MSH:D001787 +xref: UMLS_CUI:C0005806 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:418 +name: systemic scleroderma +def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." [sn:IEDB] +synonym: "progressive systemic sclerosis" EXACT [MTHICD9_2006:710.1] +synonym: "PSS (progressive systemic sclerosis)" EXACT [CSP2005:4008-0097] +synonym: "Scleroderma" EXACT [SNOMEDCT_2005_07_31:201440007] +synonym: "Scleroderma (& [systemic sclerosis])" EXACT [SNOMEDCT_2005_07_31:156451000] +synonym: "Scleroderma (& [systemic sclerosis])" EXACT [SNOMEDCT_2005_07_31:268049000] +synonym: "Scleroderma syndrome" EXACT [SNOMEDCT_2005_07_31:128457007] +synonym: "Scleroderma syndrome" EXACT [SNOMEDCT_2005_07_31:89155008] +synonym: "systemic sclerosis" EXACT [ICD9CM_2006:710.1] +xref: EFO:0000717 +xref: ICD10CM:M34.0 +xref: ICD10CM:M34.9 +xref: ICD9CM:710.1 +xref: MSH:D012595 +xref: NCI:C72070 +xref: SNOMEDCT_US_2015_03_01:128457007 +xref: SNOMEDCT_US_2015_03_01:156451000 +xref: SNOMEDCT_US_2015_03_01:201440007 +xref: SNOMEDCT_US_2015_03_01:268049000 +xref: SNOMEDCT_US_2015_03_01:89155008 +xref: UMLS_CUI:C0036421 +is_a: DOID:419 ! scleroderma + +[Term] +id: DOID:4183 +name: pseudopseudohypoparathyroidism +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:8084001] +synonym: "Pseudopseudohypoparathyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:237659007] +xref: MSH:D011556 +xref: OMIM:612463 +xref: SNOMEDCT_US_2015_03_01:190867002 +xref: SNOMEDCT_US_2015_03_01:237659007 +xref: SNOMEDCT_US_2015_03_01:8084001 +xref: UMLS_CUI:C0033835 +is_a: DOID:4184 ! pseudohypoparathyroidism + +[Term] +id: DOID:4184 +name: pseudohypoparathyroidism +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E20.1 +xref: MSH:D011547 +xref: NCI:C99027 +xref: OMIM:603233 +xref: OMIM:612462 +xref: SNOMEDCT_US_2015_03_01:154697005 +xref: SNOMEDCT_US_2015_03_01:190867002 +xref: SNOMEDCT_US_2015_03_01:267479004 +xref: SNOMEDCT_US_2015_03_01:58976002 +xref: UMLS_CUI:C0033806 +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:4186 +name: articulation disorder +def: "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand." [url:http\://www.psllcnj.com/articulation_disorders.htm] +synonym: "Articulation impairment" EXACT [SNOMEDCT_2005_07_31:8187005] +synonym: "Phonological disorder" EXACT [MTHICD9_2006:315.39] +xref: ICD10CM:F80.0 +xref: MSH:D001184 +xref: NCI:C92564 +xref: SNOMEDCT_US_2015_03_01:229719002 +xref: SNOMEDCT_US_2015_03_01:386701004 +xref: SNOMEDCT_US_2015_03_01:8187005 +xref: UMLS_CUI:C0003910 +is_a: DOID:92 ! speech disorder + +[Term] +id: DOID:4188 +name: echolalia +def: "A speech disorder that involves the automatic repetition of vocalizations made by another person." [url:http\://en.wikipedia.org/wiki/Echolalia] +xref: MSH:D004454 +xref: NCI:C97166 +xref: SNOMEDCT_US_2015_03_01:64712007 +xref: UMLS_CUI:C0013528 +is_a: DOID:92 ! speech disorder + +[Term] +id: DOID:4189 +name: mutism +def: "A speech disorder that involves a complete inability to speak." [url:http\://en.wikipedia.org/wiki/Mutism, url:http\://en.wikipedia.org/wiki/Speech_disorder] +xref: MSH:D009155 +xref: SNOMEDCT_US_2015_03_01:267771000 +xref: SNOMEDCT_US_2015_03_01:88052002 +xref: UMLS_CUI:C0026884 +is_a: DOID:92 ! speech disorder + +[Term] +id: DOID:419 +name: scleroderma +def: "A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] +synonym: "dermatosclerosis" EXACT [CSP2005:2716-6998] +xref: MSH:D012594 +xref: NCI:C26746 +xref: SNOMEDCT_US_2015_03_01:128457007 +xref: SNOMEDCT_US_2015_03_01:156451000 +xref: SNOMEDCT_US_2015_03_01:156454008 +xref: SNOMEDCT_US_2015_03_01:201440007 +xref: SNOMEDCT_US_2015_03_01:201441006 +xref: SNOMEDCT_US_2015_03_01:267874003 +xref: SNOMEDCT_US_2015_03_01:268049000 +xref: SNOMEDCT_US_2015_03_01:287005009 +xref: SNOMEDCT_US_2015_03_01:89155008 +xref: UMLS_CUI:C0011644 +is_a: DOID:1575 ! rheumatic disease +is_a: DOID:854 ! collagen disease + +[Term] +id: DOID:4193 +name: intracranial thrombosis +alt_id: DOID:12751 +synonym: "cerebral thrombosis" EXACT [] +xref: ICD9CM:434.0 +xref: MSH:D020767 +xref: SNOMEDCT_US_2015_03_01:155401002 +xref: UMLS_CUI:C0079102 +xref: UMLS_CUI:C0752143 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:4194 +name: glucose metabolism disease +synonym: "disorder of glucose metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:126877002] +xref: MSH:D044882 +xref: NCI:C53655 +xref: SNOMEDCT_US_2015_03_01:126877002 +xref: UMLS_CUI:C1257958 +is_a: DOID:0050013 ! carbohydrate metabolism disease + +[Term] +id: DOID:4195 +name: hyperglycemia +xref: ICD10CM:R73.9 +xref: MSH:D006943 +xref: NCI:C26797 +xref: SNOMEDCT_US_2015_03_01:144187006 +xref: SNOMEDCT_US_2015_03_01:154719004 +xref: SNOMEDCT_US_2015_03_01:207289007 +xref: SNOMEDCT_US_2015_03_01:207643008 +xref: SNOMEDCT_US_2015_03_01:237598005 +xref: SNOMEDCT_US_2015_03_01:270004003 +xref: SNOMEDCT_US_2015_03_01:315299009 +xref: SNOMEDCT_US_2015_03_01:390730002 +xref: SNOMEDCT_US_2015_03_01:80394007 +xref: UMLS_CUI:C0020456 +is_a: DOID:4194 ! glucose metabolism disease + +[Term] +id: DOID:4196 +name: femoral neuropathy +synonym: "Femoral nerve lesions" EXACT [SNOMEDCT_2005_07_31:193146000] +synonym: "Femoral neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:25690000] +xref: ICD10CM:G57.2 +xref: ICD10CM:G57.20 +xref: MSH:D020428 +xref: NCI:C27595 +xref: SNOMEDCT_US_2015_03_01:193146000 +xref: SNOMEDCT_US_2015_03_01:25690000 +xref: UMLS_CUI:C0751931 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:420 +name: hypertrichosis +synonym: "hypertrichosis (disorder)" EXACT [SNOMEDCT_2005_07_31:29966009] +synonym: "hypertrichosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201165000] +xref: ICD10CM:L68 +xref: ICD10CM:L68.3 +xref: ICD10CM:L68.9 +xref: MSH:D006983 +xref: NCI:C79597 +xref: SNOMEDCT_US_2015_03_01:156409007 +xref: SNOMEDCT_US_2015_03_01:201164001 +xref: SNOMEDCT_US_2015_03_01:201165000 +xref: SNOMEDCT_US_2015_03_01:271607001 +xref: SNOMEDCT_US_2015_03_01:29966009 +xref: SNOMEDCT_US_2015_03_01:40090008 +xref: UMLS_CUI:C0020555 +is_a: DOID:421 ! hair disease + +[Term] +id: DOID:4200 +name: commensal Bifidobacteriales infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4201 +name: peroneal neuropathy +synonym: "Peroneal Neuropathy" EXACT [NCI2004_11_17:C27596] +xref: MSH:D020427 +xref: NCI:C27596 +xref: UMLS_CUI:C0747533 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:4202 +name: brain stem glioma +synonym: "Brainstem Neuroglial tumor" EXACT [NCI2004_11_17:C8501] +xref: NCI:C8501 +xref: SNOMEDCT_US_2015_03_01:444545003 +xref: UMLS_CUI:C0677865 +is_a: DOID:4203 ! brain stem cancer + +[Term] +id: DOID:4203 +name: brain stem cancer +alt_id: DOID:13974 +alt_id: DOID:4204 +alt_id: DOID:4208 +synonym: "malignant neoplasm of brain stem" EXACT [] +synonym: "malignant neoplasm of brainstem" EXACT [SNOMEDCT_2005_07_31:154549004] +synonym: "malignant neoplasm of brainstem (disorder)" EXACT [SNOMEDCT_2005_07_31:363473003] +synonym: "malignant neoplasm of brainstem NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188299003] +synonym: "malignant tumor of Brainstem" EXACT [NCI2004_11_17:C3570] +synonym: "neoplasm of adult brain stem" EXACT [] +synonym: "neoplasm of brain stem (disorder)" EXACT [SNOMEDCT_2005_07_31:126961004] +synonym: "primary brain stem neoplasm" EXACT [] +synonym: "primary brain Stem tumor" EXACT [NCI2004_11_17:C4975] +synonym: "tumor of adult Brainstem" EXACT [NCI2004_11_17:C5967] +synonym: "tumor of the Brainstem" EXACT [NCI2004_11_17:C4869] +xref: ICD10CM:C71.7 +xref: ICD9CM:191.7 +xref: MSH:D020295 +xref: NCI:C3570 +xref: NCI:C4869 +xref: NCI:C4975 +xref: NCI:C5967 +xref: SNOMEDCT_US_2015_03_01:126961004 +xref: SNOMEDCT_US_2015_03_01:154549004 +xref: SNOMEDCT_US_2015_03_01:188299003 +xref: SNOMEDCT_US_2015_03_01:363473003 +xref: SNOMEDCT_US_2015_03_01:93726004 +xref: UMLS_CUI:C0153641 +xref: UMLS_CUI:C0677866 +xref: UMLS_CUI:C0751886 +xref: UMLS_CUI:C1332192 +is_a: DOID:4706 ! infratentorial cancer + +[Term] +id: DOID:4205 +name: cerebellum cancer +alt_id: DOID:12786 +synonym: "cerebellar cancer" EXACT [] +synonym: "malignant tumor of Cerebellum" EXACT [NCI2004_11_17:C3569] +xref: ICD10CM:C71.6 +xref: ICD9CM:191.6 +xref: MSH:D002528 +xref: NCI:C2935 +xref: NCI:C3569 +xref: SNOMEDCT_US_2015_03_01:126960003 +xref: SNOMEDCT_US_2015_03_01:154548007 +xref: SNOMEDCT_US_2015_03_01:363472008 +xref: SNOMEDCT_US_2015_03_01:449420002 +xref: UMLS_CUI:C0007762 +xref: UMLS_CUI:C0153640 +is_a: DOID:4706 ! infratentorial cancer + +[Term] +id: DOID:4206 +name: childhood brain stem neoplasm +synonym: "pediatric tumor of Brainstem" EXACT [NCI2004_11_17:C5969] +xref: NCI:C5969 +xref: UMLS_CUI:C1332951 +is_a: DOID:4203 ! brain stem cancer + +[Term] +id: DOID:4207 +name: childhood infratentorial neoplasm +synonym: "pediatric Infratentorial tumor" EXACT [NCI2004_11_17:C5802] +xref: NCI:C5802 +xref: UMLS_CUI:C1332973 +is_a: DOID:4203 ! brain stem cancer + +[Term] +id: DOID:4209 +name: brainstem intraparenchymal clear cell meningioma +synonym: "Intraparenchymal Clear cell meningioma of the Brainstem" EXACT [NCI2004_11_17:C5295] +xref: NCI:C5295 +xref: UMLS_CUI:C1332612 +is_a: DOID:4210 ! clear cell meningioma + +[Term] +id: DOID:421 +name: hair disease +def: "An integumentary system disease that is located_in hair." [url:http\://en.wikipedia.org/wiki/Hair_disease] +xref: MSH:D006201 +xref: NCI:C34656 +xref: SNOMEDCT_US_2015_03_01:156407009 +xref: SNOMEDCT_US_2015_03_01:267862002 +xref: SNOMEDCT_US_2015_03_01:279425004 +xref: UMLS_CUI:C0018500 +is_a: DOID:16 ! integumentary system disease + +[Term] +id: DOID:4210 +name: clear cell meningioma +synonym: "Clear cell meningioma" EXACT [SNOMEDCT_2005_07_31:134213009] +synonym: "Clear cell meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:57606003] +xref: MSH:D008579 +xref: NCI:C4722 +xref: SNOMEDCT_US_2015_03_01:134213009 +xref: SNOMEDCT_US_2015_03_01:57606003 +xref: UMLS_CUI:C0431121 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4211 +name: posterior cranial fossa meningioma +synonym: "meningioma of the Posterior Cranial Fossa" EXACT [NCI2004_11_17:C6775] +xref: NCI:C6775 +xref: UMLS_CUI:C1335448 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4217 +name: malignant ovarian Brenner tumor +synonym: "Brenner tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:42194009] +synonym: "malignant Ovarian Brenner tumor" EXACT [NCI2004_11_17:C4270] +xref: MSH:D001948 +xref: NCI:C4270 +xref: SNOMEDCT_US_2015_03_01:42194009 +xref: UMLS_CUI:C0334495 +is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm + +[Term] +id: DOID:422 +name: congenital structural myopathy +xref: MSH:D020914 +xref: NCI:C84648 +xref: UMLS_CUI:C0752282 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:4223 +name: pyoderma +def: "Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus." [url:http\://en.wikipedia.org/wiki/Pyoderma, url:http\://en.wikipedia.org/wiki/Pyogenic] +xref: ICD10CM:L08.0 +xref: ICD9CM:686.0 +xref: ICD9CM:686.00 +xref: MSH:D011711 +xref: SNOMEDCT_US_2015_03_01:156323008 +xref: SNOMEDCT_US_2015_03_01:200719000 +xref: SNOMEDCT_US_2015_03_01:267838007 +xref: SNOMEDCT_US_2015_03_01:70759006 +xref: UMLS_CUI:C0034212 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:4224 +name: adult soft tissue sarcoma +def: "A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body." [url:http\://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma] +synonym: "adult sarcoma of the soft tissue" EXACT [NCI2004_11_17:C7707] +is_obsolete: true + +[Term] +id: DOID:4226 +name: endometrial stromal sarcoma +synonym: "endometrial stromal sarcoma, high grade" EXACT [SNOMEDCT_2005_07_31:70555003] +synonym: "ESS" EXACT [NCI2004_11_17:C8973] +synonym: "Undifferentiated endometrial sarcoma" EXACT [NCI2004_11_17:C8972] +xref: MSH:D018203 +xref: NCI:C8973 +xref: SNOMEDCT_US_2015_03_01:699356008 +xref: SNOMEDCT_US_2015_03_01:70555003 +xref: UMLS_CUI:C0206630 +is_a: DOID:5166 ! endometrial stromal tumor + +[Term] +id: DOID:4227 +name: uterine corpus endometrial stromal sarcoma +alt_id: DOID:1374 +synonym: "uterine corpus endometrial stromal tumor" EXACT [] +xref: NCI:C40217 +xref: NCI:C40219 +xref: UMLS_CUI:C1519848 +xref: UMLS_CUI:C1519849 +is_a: DOID:5165 ! uterine corpus sarcoma + +[Term] +id: DOID:4228 +name: stromal sarcoma +synonym: "Stromal sarcoma" EXACT [NCI2004_11_17:C6926] +synonym: "Stromal sarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128753005] +is_obsolete: true + +[Term] +id: DOID:423 +name: myopathy +def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." [url:http\://en.wikipedia.org/wiki/Myopathy] +xref: ICD10CM:G72.9 +xref: ICD10CM:M60-M63 +xref: ICD10CM:M62.9 +xref: ICD9CM:359.9 +xref: MSH:D009135 +xref: NCI:C101216 +xref: SNOMEDCT_US_2015_03_01:129565002 +xref: SNOMEDCT_US_2015_03_01:155094005 +xref: SNOMEDCT_US_2015_03_01:155099000 +xref: SNOMEDCT_US_2015_03_01:203833006 +xref: SNOMEDCT_US_2015_03_01:203845002 +xref: SNOMEDCT_US_2015_03_01:267711006 +xref: SNOMEDCT_US_2015_03_01:267714003 +xref: SNOMEDCT_US_2015_03_01:268103006 +xref: SNOMEDCT_US_2015_03_01:52794005 +xref: SNOMEDCT_US_2015_03_01:75047002 +xref: UMLS_CUI:C0026848 +is_a: DOID:66 ! muscle tissue disease + +[Term] +id: DOID:4230 +name: smooth muscle cancer +synonym: "malignant tumor of Smooth Muscle" EXACT [NCI2004_11_17:C6511] +xref: NCI:C6511 +xref: UMLS_CUI:C1334620 +is_a: DOID:4045 ! muscle cancer + +[Term] +id: DOID:4231 +name: histiocytoma +xref: MSH:D051642 +xref: NCI:C35765 +xref: SNOMEDCT_US_2015_03_01:128741006 +xref: SNOMEDCT_US_2015_03_01:154614002 +xref: SNOMEDCT_US_2015_03_01:189773000 +xref: SNOMEDCT_US_2015_03_01:302843004 +xref: SNOMEDCT_US_2015_03_01:72079004 +xref: UMLS_CUI:C1509147 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:4232 +name: extraosseous Ewing's sarcoma +synonym: "extraosseous Ewing sarcoma" EXACT [] +synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] +xref: NCI:C27293 +xref: UMLS_CUI:C1333514 +is_a: DOID:3369 ! peripheral primitive neuroectodermal tumor + +[Term] +id: DOID:4233 +name: clear cell sarcoma +alt_id: DOID:4881 +def: "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated." [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma] +synonym: "adult soft part clear cell sarcoma" EXACT [] +synonym: "Clear cell sarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:271944004] +synonym: "Clear cell sarcoma of soft Parts" EXACT [NCI2004_11_17:C3745] +synonym: "malignant melanoma of soft parts" RELATED [] +synonym: "malignant melanoma of soft tissues (disorder)" EXACT [SNOMEDCT_2005_07_31:402561003] +synonym: "melanoma, malignant, of soft parts" EXACT [SNOMEDCT_2005_07_31:12622007] +xref: MSH:D018227 +xref: NCI:C27370 +xref: NCI:C3745 +xref: SNOMEDCT_US_2015_03_01:12622007 +xref: SNOMEDCT_US_2015_03_01:271944004 +xref: SNOMEDCT_US_2015_03_01:402561003 +xref: UMLS_CUI:C0206651 +xref: UMLS_CUI:C1332198 +is_a: DOID:1115 ! sarcoma + +[Term] +id: DOID:4235 +name: spindle cell sarcoma +def: "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy." [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma] +xref: MSH:D012509 +xref: NCI:C27005 +xref: SNOMEDCT_US_2015_03_01:9801004 +xref: UMLS_CUI:C0205945 +is_a: DOID:1115 ! sarcoma + +[Term] +id: DOID:4236 +name: carcinosarcoma +alt_id: DOID:1971 +alt_id: DOID:2610 +alt_id: DOID:4234 +def: "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." [url:http\://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor, url:http\://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English, url:http\://www.cancer.gov/dictionary/?CdrID=44003] +synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [] +synonym: "malignant mixed Mullerian tumor" EXACT [] +synonym: "mesodermal mixed tumor" EXACT [] +synonym: "Mesodermal mixed tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112684005] +synonym: "mixed Mesodermal (mullerian) tumor" EXACT [NCI2004_11_17:C3730] +synonym: "MMMT" EXACT [NCI2004_11_17:C8975] +synonym: "mullerian mixed tumor" EXACT [] +synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:84427001] +xref: MSH:D002296 +xref: MSH:D018199 +xref: MSH:D018200 +xref: NCI:C34448 +xref: NCI:C3730 +xref: NCI:C8975 +xref: SNOMEDCT_US_2015_03_01:112684005 +xref: SNOMEDCT_US_2015_03_01:189808004 +xref: SNOMEDCT_US_2015_03_01:63264007 +xref: SNOMEDCT_US_2015_03_01:84427001 +xref: UMLS_CUI:C0007140 +xref: UMLS_CUI:C0206627 +xref: UMLS_CUI:C1334603 +is_a: DOID:154 ! mixed cell type cancer + +[Term] +id: DOID:4238 +name: malignant soft tissue neoplasm of central nervous system +synonym: "malignant soft tissue tumor of CNS" EXACT [NCI2004_11_17:C6758] +is_obsolete: true + +[Term] +id: DOID:4239 +name: alveolar soft part sarcoma +alt_id: DOID:5315 +alt_id: DOID:5318 +def: "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." [url:http\://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "adult alveolar soft part sarcoma" EXACT [] +synonym: "Alveolar Soft Part sarcoma" EXACT [NCI2004_11_17:C3750] +synonym: "childhood alveolar soft part sarcoma" EXACT [] +synonym: "pediatric Alveolar soft Part sarcoma" EXACT [NCI2004_11_17:C8092] +xref: MSH:D018234 +xref: NCI:C3750 +xref: NCI:C7943 +xref: NCI:C8092 +xref: OMIM:606243 +xref: SNOMEDCT_US_2015_03_01:302839003 +xref: SNOMEDCT_US_2015_03_01:404056007 +xref: SNOMEDCT_US_2015_03_01:88195001 +xref: UMLS_CUI:C0206657 +xref: UMLS_CUI:C0279544 +xref: UMLS_CUI:C0279985 +is_a: DOID:4043 ! skeletal muscle cancer + +[Term] +id: DOID:424 +name: pulmonary immaturity +synonym: "primary atelectasis of newborn" EXACT [ICD9CM_2006:770.4] +synonym: "primary atelectasis, in perinatal period (disorder)" EXACT [SNOMEDCT_2005_07_31:42908004] +xref: ICD10CM:P28.0 +xref: ICD9CM:770.4 +xref: SNOMEDCT_US_2015_03_01:123275009 +xref: SNOMEDCT_US_2015_03_01:42908004 +xref: UMLS_CUI:C0270163 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:4240 +name: malignant miscellaneous mesenchymal tumor +is_obsolete: true + +[Term] +id: DOID:4242 +name: kidney sarcoma +def: "A kidney cancer that is located_in the kidney's connective tissue." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp] +synonym: "renal sarcoma" EXACT [NCI2004_11_17:C4525] +synonym: "sarcoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254918001] +xref: NCI:C4525 +xref: SNOMEDCT_US_2015_03_01:254918001 +xref: UMLS_CUI:C0346251 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:4245 +name: extraskeletal cartilaginous and osseous tumor +is_obsolete: true + +[Term] +id: DOID:4246 +name: malignant mediastinal mesenchymal tumor +synonym: "malignant soft tissue tumor of mediastinum" EXACT [NCI2004_11_17:C6642] +is_obsolete: true + +[Term] +id: DOID:4247 +name: coronary restenosis +xref: MSH:D023903 +xref: UMLS_CUI:C0948480 +is_a: DOID:4248 ! coronary stenosis + +[Term] +id: DOID:4248 +name: coronary stenosis +synonym: "Coronary artery stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:233970002] +xref: MSH:D023921 +xref: NCI:C80427 +xref: SNOMEDCT_US_2015_03_01:233970002 +xref: UMLS_CUI:C0242231 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:4249 +name: Gerstmann-Straussler-Scheinker syndrome +def: "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." [url:http\://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome, url:http\://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease, url:http\://www.cdc.gov/ncidod/dvrd/prions/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [] +synonym: "PRION DEMENTIA" EXACT [] +xref: ICD10CM:A81.82 +xref: ICD9CM:046.71 +xref: MSH:D016098 +xref: NCI:C84727 +xref: OMIM:137440 +xref: SNOMEDCT_US_2015_03_01:67155006 +xref: UMLS_CUI:C0017495 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:425 +name: certain conditions originating in the perinatal period +is_obsolete: true + +[Term] +id: DOID:4250 +name: conjunctivochalasis +synonym: "Conjunctivochalasis (disorder)" EXACT [SNOMEDCT_2005_07_31:408663001] +xref: ICD10CM:H11.82 +xref: ICD9CM:372.81 +xref: SNOMEDCT_US_2015_03_01:408663001 +xref: UMLS_CUI:C0878693 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:4251 +name: conjunctival disease +xref: ICD10CM:H10-H11 +xref: ICD10CM:H11.9 +xref: ICD9CM:372 +xref: ICD9CM:372.9 +xref: MSH:D003229 +xref: NCI:C27605 +xref: SNOMEDCT_US_2015_03_01:155161009 +xref: SNOMEDCT_US_2015_03_01:155169006 +xref: SNOMEDCT_US_2015_03_01:193906005 +xref: SNOMEDCT_US_2015_03_01:194583004 +xref: SNOMEDCT_US_2015_03_01:267735001 +xref: SNOMEDCT_US_2015_03_01:59698003 +xref: UMLS_CUI:C0009759 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:4252 +name: Alexander disease +def: "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes." [url:http\://en.wikipedia.org/wiki/Alexander_disease, url:http\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\://www.omim.org/entry/203450, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alexander's disease" EXACT [CSP2005:1849-5479] +synonym: "Alexander's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:81854007] +xref: MSH:D038261 +xref: NCI:C84545 +xref: OMIM:203450 +xref: SNOMEDCT_US_2015_03_01:81854007 +xref: UMLS_CUI:C0270726 +is_a: DOID:10579 ! leukodystrophy + +[Term] +id: DOID:4253 +name: melorheostosis +def: "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex." [url:http\://en.wikipedia.org/wiki/Melorheostosis, url:http\://www.melorheostosis.com/, url:http\://www.orthopaedia.com/display/Main/Melorheostosis] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D008557 +xref: NCI:C84887 +xref: OMIM:155950 +xref: SNOMEDCT_US_2015_03_01:240173003 +xref: SNOMEDCT_US_2015_03_01:44697002 +xref: UMLS_CUI:C0025239 +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:4254 +name: osteosclerosis +def: "A bone remodeling disease that results_in abnormal elevated bone density or mass." [url:http\://en.wikipedia.org/wiki/Osteosclerosis, url:http\://medical-dictionary.thefreedictionary.com/osteosclerosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteosclerosis.aspx] +xref: ICD10CM:Q78.2 +xref: MSH:D010026 +xref: NCI:C41236 +xref: SNOMEDCT_US_2015_03_01:49347007 +xref: UMLS_CUI:C0029464 +is_a: DOID:0080005 ! bone remodeling disease + +[Term] +id: DOID:4256 +name: rheumatism +is_obsolete: true + +[Term] +id: DOID:4257 +name: Caffey disease +def: "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability." [url:http\://emedicine.medscape.com/article/406697-overview, url:http\://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/c/caffeys_disease.aspx] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cortical congenital hyperostosis" EXACT [] +synonym: "infantile cortical hyperostosis" EXACT [] +xref: ICD10CM:M89.8 +xref: MSH:D006958 +xref: NCI:C84645 +xref: OMIM:114000 +xref: SNOMEDCT_US_2015_03_01:123258003 +xref: SNOMEDCT_US_2015_03_01:24752008 +xref: UMLS_CUI:C0020497 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:4258 +name: Weissenbacher-Zweymüller syndrome +def: "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities." [url:http\://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome, url:http\://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351, url:http\://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1] +synonym: "Piere-Robin syndrome" EXACT [SNOMEDCT_2005_07_31:268313009] +synonym: "Pierre Robin Malformation" EXACT [] +xref: ICD10CM:Q87.0 +xref: MSH:D010855 +xref: NCI:C85010 +xref: OMIM:261800 +xref: SNOMEDCT_US_2015_03_01:156908005 +xref: SNOMEDCT_US_2015_03_01:268313009 +xref: SNOMEDCT_US_2015_03_01:4602007 +xref: UMLS_CUI:C0031900 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:4260 +name: gait apraxia +synonym: "Gait apraxia (finding)" EXACT [SNOMEDCT_2005_07_31:30767006] +xref: MSH:D020235 +xref: SNOMEDCT_US_2015_03_01:30767006 +xref: UMLS_CUI:C1510417 +is_a: DOID:0060135 ! apraxia + +[Term] +id: DOID:4263 +name: drug-induced akathisia +synonym: "Drug-induced akathisia (disorder)" EXACT [SNOMEDCT_2005_07_31:230333002] +is_obsolete: true + +[Term] +id: DOID:4265 +name: angiomyoma +synonym: "Angiomyoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:86959002] +synonym: "vascular leiomyoma" EXACT [NCI2004_11_17:C3747] +xref: MSH:D018229 +xref: NCI:C3747 +xref: SNOMEDCT_US_2015_03_01:86959002 +xref: UMLS_CUI:C0206653 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:4266 +name: intravascular angioleiomyoma +xref: NCI:C5355 +xref: UMLS_CUI:C1334267 +is_a: DOID:4265 ! angiomyoma + +[Term] +id: DOID:4267 +name: akinetic mutism +def: "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." [url:http\://en.wikipedia.org/wiki/Akinetic_mutism, url:http\://www.ncbi.nlm.nih.gov/pubmed/14642361] +synonym: "Coma vigilans (finding)" EXACT [SNOMEDCT_2005_07_31:5124002] +xref: MSH:D000405 +xref: SNOMEDCT_US_2015_03_01:5124002 +xref: SNOMEDCT_US_2015_03_01:53333005 +xref: UMLS_CUI:C0001889 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:4270 +name: encephalitozoonosis +def: "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." [url:http\://jvdi.org/cgi/reprint/5/4/649.pdf, url:http\://www.petplace.com/dogs/encephalitozoonosis/page1.aspx] +subset: zoonotic_infectious_disease +synonym: "Infection by Encephalitozoon (disorder)" EXACT [SNOMEDCT_2005_07_31:12825006] +xref: MSH:D016890 +xref: SNOMEDCT_US_2015_03_01:12825006 +xref: UMLS_CUI:C0085412 +is_a: DOID:4271 ! microsporidiosis + +[Term] +id: DOID:4271 +name: microsporidiosis +def: "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm] +synonym: "Infection by Microspora (disorder)" EXACT [SNOMEDCT_2005_07_31:65883009] +synonym: "Infection by Microsporea (disorder)" EXACT [SNOMEDCT_2005_07_31:78142009] +synonym: "Infection by Microsporida (disorder)" EXACT [SNOMEDCT_2005_07_31:61842000] +xref: ICD10CM:B60.8 +xref: MSH:D016881 +xref: NCI:C84891 +xref: SNOMEDCT_US_2015_03_01:61842000 +xref: SNOMEDCT_US_2015_03_01:65883009 +xref: SNOMEDCT_US_2015_03_01:699676006 +xref: SNOMEDCT_US_2015_03_01:78142009 +xref: UMLS_CUI:C0085407 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:4273 +name: bovine hemorrhagic syndrome +def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes." [url:http\://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML] +is_obsolete: true + +[Term] +id: DOID:4274 +name: Pestivirus infectious disease +def: "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." [url:http\://en.wikipedia.org/wiki/Pestivirus] +is_obsolete: true + +[Term] +id: DOID:4277 +name: penis basal cell carcinoma +synonym: "basal cell carcinoma of the penis" RELATED [] +xref: NCI:C39961 +xref: UMLS_CUI:C1518949 +is_a: DOID:3449 ! penis carcinoma + +[Term] +id: DOID:4278 +name: scrotum basal cell carcinoma +synonym: "Basal cell carcinoma of scrotum" EXACT [NCI2004_11_17:C6386] +synonym: "basal cell carcinoma of the scrotum" RELATED [] +xref: NCI:C6386 +xref: UMLS_CUI:C1335934 +is_a: DOID:3445 ! scrotal carcinoma + +[Term] +id: DOID:4279 +name: infundibulocystic basal cell carcinoma +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "skin infundibulocystic basal cell carcinoma" EXACT [] +xref: OMIM:604451 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4280 +name: nodular basal cell carcinoma +alt_id: DOID:4296 +synonym: "Basal cell carcinoma, nodular (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128636006] +synonym: "Circumscribed solid basal cell carcinoma" EXACT [SNOMEDCT_2005_07_31:403910009] +synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [] +synonym: "skin solid (nodular) Basal cell carcinoma" EXACT [NCI2004_11_17:C5616] +xref: NCI:C62282 +xref: SNOMEDCT_US_2015_03_01:128636006 +xref: SNOMEDCT_US_2015_03_01:403910009 +xref: UMLS_CUI:C1304300 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4281 +name: metatypical basal cell carcinoma +synonym: "Basosquamous carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254702000] +synonym: "skin metatypical basal cell carcinoma" EXACT [] +synonym: "skin Metatypical carcinoma" EXACT [NCI2004_11_17:C2922] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4282 +name: pigmented basal cell carcinoma +synonym: "skin pigmented basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4283 +name: anal margin basal cell carcinoma +synonym: "basal cell carcinoma of anal margin" RELATED [] +synonym: "Basal cell carcinoma of Perianal skin" EXACT [NCI2004_11_17:C7473] +xref: ICD10CM:C44.510 +xref: NCI:C7473 +xref: UMLS_CUI:C1332269 +is_a: DOID:4284 ! anal margin carcinoma + +[Term] +id: DOID:4284 +name: anal margin carcinoma +def: "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] +synonym: "carcinoma of anal margin" RELATED [] +synonym: "Perianal skin carcinoma" EXACT [NCI2004_11_17:C7472] +xref: NCI:C7472 +xref: SNOMEDCT_US_2015_03_01:255084004 +xref: UMLS_CUI:C0349534 +is_a: DOID:4908 ! anal carcinoma + +[Term] +id: DOID:4285 +name: complications of pregnancy, childbirth and the puerperium +is_obsolete: true + +[Term] +id: DOID:4286 +name: sebaceous basal cell carcinoma +synonym: "skin basosebaceous basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4287 +name: external ear basal cell carcinoma +synonym: "basal cell carcinoma of external ear" RELATED [] +synonym: "Basal cell carcinoma of the External ear" EXACT [NCI2004_11_17:C6082] +xref: NCI:C6082 +xref: UMLS_CUI:C1333491 +is_a: DOID:4288 ! external ear carcinoma + +[Term] +id: DOID:4288 +name: external ear carcinoma +def: "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "carcinoma of external ear" RELATED [] +synonym: "carcinoma of the External ear" EXACT [NCI2004_11_17:C6081] +xref: NCI:C6081 +xref: UMLS_CUI:C1333492 +is_a: DOID:5665 ! external ear cancer + +[Term] +id: DOID:4289 +name: micronodular basal cell carcinoma +synonym: "skin micronodular basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:429 +name: gynatresia +xref: MSH:D006175 +xref: NCI:C84743 +xref: UMLS_CUI:C0018414 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:4290 +name: adamantinoid basal cell epithelioma +synonym: "Basal cell carcinoma - adamantinoid (disorder)" EXACT [SNOMEDCT_2005_07_31:402524007] +synonym: "Melanotic adamantinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254728002] +synonym: "skin adamantinoid basal cell epithelioma" EXACT [] +xref: NCI:C7585 +xref: SNOMEDCT_US_2015_03_01:254728002 +xref: SNOMEDCT_US_2015_03_01:402524007 +xref: UMLS_CUI:C1304295 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4291 +name: fibroepithelial basal cell carcinoma +synonym: "Fibroepithelioma of Pinkus (disorder)" EXACT [SNOMEDCT_2005_07_31:254703005] +synonym: "Fibroepithelioma of Pinkus type" EXACT [SNOMEDCT_2005_07_31:43369006] +synonym: "Pinkus tumor" EXACT [NCI2004_11_17:C4109] +xref: NCI:C4109 +xref: SNOMEDCT_US_2015_03_01:254703005 +xref: SNOMEDCT_US_2015_03_01:43369006 +xref: UMLS_CUI:C0346013 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4292 +name: morpheaform basal cell carcinoma +synonym: "Basal cell carcinoma, morphea" EXACT [SNOMEDCT_2005_07_31:56665009] +synonym: "Cicatricial basal-cell carcinoma" EXACT [] +synonym: "Morphea-type (Sclerosing) Basal cell carcinoma" EXACT [NCI2004_11_17:C27182] +xref: NCI:C27182 +xref: SNOMEDCT_US_2015_03_01:134152008 +xref: SNOMEDCT_US_2015_03_01:302821007 +xref: SNOMEDCT_US_2015_03_01:403913006 +xref: SNOMEDCT_US_2015_03_01:56665009 +xref: UMLS_CUI:C0555191 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4293 +name: clear cell basal cell carcinoma +synonym: "skin clear cell basal cell carcinoma" EXACT [] +xref: NCI:C27536 +xref: UMLS_CUI:C1516599 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4294 +name: adenoid basal cell carcinoma +synonym: "skin adenoid basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4295 +name: follicular basal cell carcinoma +synonym: "follicular (pilar) basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4297 +name: scimitar syndrome +synonym: "pulmonary venolobar syndrome" EXACT [] +synonym: "total anomalous pulmonary venous return" EXACT [] +xref: ICD10CM:Q26.2 +xref: ICD10CM:Q26.8 +xref: ICD9CM:747.41 +xref: MSH:D012587 +xref: NCI:C85056 +xref: NCI:C98585 +xref: OMIM:106700 +xref: SNOMEDCT_US_2015_03_01:111323005 +xref: SNOMEDCT_US_2015_03_01:204458000 +xref: SNOMEDCT_US_2015_03_01:39905002 +xref: UMLS_CUI:C0036400 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:4298 +name: respiratory system abnormality +is_obsolete: true + +[Term] +id: DOID:4299 +name: infiltrative basal cell carcinoma +synonym: "skin infiltrating basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4300 +name: superficial basal cell carcinoma +synonym: "multicentric basal cell carcinoma" EXACT [] +synonym: "Multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:61098004] +synonym: "Superficial multicentric basal-cell carcinoma" EXACT [] +xref: NCI:C4108 +xref: SNOMEDCT_US_2015_03_01:61098004 +xref: UMLS_CUI:C0334256 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4301 +name: vulva basal cell carcinoma +synonym: "basal cell carcinoma of the vulva" RELATED [] +synonym: "Basal cell carcinoma of Vulva" EXACT [NCI2004_11_17:C6381] +xref: NCI:C6381 +xref: UMLS_CUI:C1336977 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:4302 +name: cystic basal cell carcinoma +synonym: "skin cystic basal cell carcinoma" EXACT [] +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4303 +name: sarcomatoid basal cell carcinoma +synonym: "skin sarcomatoid basal cell carcinoma" EXACT [] +xref: NCI:C38111 +xref: UMLS_CUI:C1519182 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4304 +name: signet ring basal cell carcinoma +synonym: "skin signet ring cell basal cell carcinoma" EXACT [] +xref: NCI:C38110 +xref: UMLS_CUI:C1519320 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:4305 +name: bone giant cell tumor +def: "A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell)." [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] +synonym: "giant cell myeloma" RELATED [] +synonym: "Giant cell neoplasm of bone" EXACT [NCI2004_11_17:C3738] +synonym: "Giant cell tumor of bone (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:57500000] +synonym: "Giant cell tumor of bone NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189891002] +synonym: "osteoclastoma" RELATED [] +xref: MSH:D018212 +xref: NCI:C3738 +xref: SNOMEDCT_US_2015_03_01:189891002 +xref: SNOMEDCT_US_2015_03_01:57500000 +xref: SNOMEDCT_US_2015_03_01:697970009 +xref: UMLS_CUI:C0206638 +is_a: DOID:200 ! giant cell tumor + +[Term] +id: DOID:4306 +name: radiculopathy +synonym: "nerve root disorder" EXACT [SNOMEDCT_2005_07_31:394640000] +synonym: "nerve root disorder, NOS" EXACT [SNOMEDCT_2005_07_31:72274001] +xref: ICD10CM:M54.1 +xref: ICD10CM:M54.10 +xref: MSH:D011843 +xref: SNOMEDCT_US_2015_03_01:394640000 +xref: SNOMEDCT_US_2015_03_01:72274001 +xref: UMLS_CUI:C0700594 +is_a: DOID:4307 ! polyradiculopathy + +[Term] +id: DOID:4307 +name: polyradiculopathy +synonym: "Polyradiculopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:75572007] +xref: MSH:D011128 +xref: NCI:C34934 +xref: SNOMEDCT_US_2015_03_01:75572007 +xref: UMLS_CUI:C0032586 +is_a: DOID:4308 ! polyradiculoneuropathy + +[Term] +id: DOID:4308 +name: polyradiculoneuropathy +synonym: "Polyradiculoneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128078004] +xref: MSH:D011129 +xref: SNOMEDCT_US_2015_03_01:128078004 +xref: UMLS_CUI:C0032587 +is_a: DOID:1389 ! polyneuropathy + +[Term] +id: DOID:431 +name: myofascial pain syndrome +xref: MSH:D009209 +xref: UMLS_CUI:C0027073 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:4310 +name: smooth muscle tumor +synonym: " Smooth muscle tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189799007] +synonym: "neoplasm of the Smooth Muscle" EXACT [NCI2004_11_17:C3751] +synonym: "Smooth muscle tumour of uncertain malignant potential" EXACT [SNOMEDCT_2005_07_31:75109009] +xref: MSH:D018235 +xref: NCI:C3751 +xref: SNOMEDCT_US_2015_03_01:189799007 +xref: SNOMEDCT_US_2015_03_01:75109009 +xref: UMLS_CUI:C0206658 +is_a: DOID:461 ! muscle benign neoplasm + +[Term] +id: DOID:4313 +name: epidermolysis bullosa acquisita +synonym: "acquired epidermolysis bullosa" EXACT [SNOMEDCT_2005_07_31:200911009] +synonym: "acquired epidermolysis bullosa (disorder)" EXACT [SNOMEDCT_2005_07_31:2772003] +xref: ICD10CM:L12.3 +xref: ICD10CM:L12.30 +xref: MSH:D016107 +xref: NCI:C84690 +xref: SNOMEDCT_US_2015_03_01:200911009 +xref: SNOMEDCT_US_2015_03_01:2772003 +xref: UMLS_CUI:C0079293 +is_a: DOID:2730 ! epidermolysis bullosa + +[Term] +id: DOID:4318 +name: visna +def: "A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf] +synonym: "Ovine encephalomyelitis" EXACT [SNOMEDCT_2005_07_31:59350003] +is_obsolete: true + +[Term] +id: DOID:4320 +name: non-gestational choriocarcinoma +xref: MSH:D031954 +xref: UMLS_CUI:C1135873 +is_a: DOID:3594 ! choriocarcinoma + +[Term] +id: DOID:4321 +name: large cell acanthoma +xref: NCI:C27518 +xref: UMLS_CUI:C1334362 +is_a: DOID:174 ! acanthoma + +[Term] +id: DOID:4322 +name: pilar sheath acanthoma +synonym: "Pilar Sheath acanthoma" EXACT [NCI2004_11_17:C4468] +synonym: "Pilar sheath acanthoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254693008] +xref: MSH:D049309 +xref: NCI:C4468 +xref: SNOMEDCT_US_2015_03_01:254693008 +xref: UMLS_CUI:C0346005 +is_a: DOID:174 ! acanthoma + +[Term] +id: DOID:4323 +name: epidermolytic acanthoma +xref: NCI:C27516 +xref: UMLS_CUI:C1333414 +is_a: DOID:174 ! acanthoma + +[Term] +id: DOID:4324 +name: acantholytic acanthoma +synonym: "Acantholytic acanthoma" EXACT [NCI2004_11_17:C27517] +xref: NCI:C27517 +xref: SNOMEDCT_US_2015_03_01:397188008 +xref: UMLS_CUI:C1301270 +is_a: DOID:174 ! acanthoma + +[Term] +id: DOID:4325 +name: Ebola hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm] +subset: zoonotic_infectious_disease +synonym: "Ebola virus disease" EXACT [SNOMEDCT_2005_07_31:186746000] +xref: ICD10CM:A98.4 +xref: MSH:D019142 +xref: NCI:C36171 +xref: SNOMEDCT_US_2015_03_01:123323003 +xref: SNOMEDCT_US_2015_03_01:186746000 +xref: SNOMEDCT_US_2015_03_01:37109004 +xref: UMLS_CUI:C0282687 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:4326 +name: Filoviridae infectious disease +def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." [url:http\://en.wikipedia.org/wiki/Filoviridae] +is_obsolete: true + +[Term] +id: DOID:4327 +name: Marburg hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm] +synonym: "Marburg disease" EXACT [MTHICD9_2006:078.89] +synonym: "Marburg virus disease" EXACT [] +xref: ICD10CM:A98.3 +xref: MSH:D008379 +xref: NCI:C84883 +xref: SNOMEDCT_US_2015_03_01:123322008 +xref: SNOMEDCT_US_2015_03_01:77503002 +xref: UMLS_CUI:C0024788 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:4329 +name: Erdheim-Chester disease +xref: MSH:D031249 +xref: NCI:C53972 +xref: SNOMEDCT_US_2015_03_01:699537002 +xref: SNOMEDCT_US_2015_03_01:703711007 +xref: UMLS_CUI:C0878675 +is_a: DOID:4330 ! non-langerhans-cell histiocytosis + +[Term] +id: DOID:433 +name: Intraventricular hemorrhage from any perinatal cause +is_obsolete: true + +[Term] +id: DOID:4330 +name: non-langerhans-cell histiocytosis +synonym: "Non-Langerhans cell histiocytosis" EXACT [SNOMEDCT_2005_07_31:127069007] +xref: MSH:D015616 +xref: SNOMEDCT_US_2015_03_01:127069007 +xref: UMLS_CUI:C0019624 +is_a: DOID:3405 ! histiocytosis + +[Term] +id: DOID:4331 +name: burning mouth syndrome +synonym: "Orodynia" EXACT [SNOMEDCT_2005_07_31:111349000] +synonym: "Stomatopyrosis" EXACT [SNOMEDCT_2005_07_31:399165002] +xref: MSH:D002054 +xref: NCI:C62545 +xref: SNOMEDCT_US_2015_03_01:111349000 +xref: SNOMEDCT_US_2015_03_01:399165002 +xref: UMLS_CUI:C0006430 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:4332 +name: familial hypophosphatemia +synonym: "familial hypophosphataemia" EXACT [SNOMEDCT_2005_07_31:237901003] +synonym: "Hypophosphatemia, familial" EXACT [MTH:U000306] +is_obsolete: true + +[Term] +id: DOID:4333 +name: parovarian cyst +synonym: "Cyst, fimbrial" EXACT [MTHICD9_2006:752.11] +synonym: "Embryonic fimbrial cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:64233004] +synonym: "Parovarian cyst" EXACT [SNOMEDCT_2005_07_31:204831002] +xref: ICD10CM:Q50.4 +xref: ICD10CM:Q50.5 +xref: MSH:D010310 +xref: SNOMEDCT_US_2015_03_01:204831002 +xref: SNOMEDCT_US_2015_03_01:64233004 +xref: UMLS_CUI:C0030584 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:4334 +name: splenic manifestation of prolymphocytic leukemia +xref: NCI:C7297 +xref: UMLS_CUI:C1336066 +is_a: DOID:1039 ! prolymphocytic leukemia +is_a: DOID:710 ! splenic manifestation of leukemia + +[Term] +id: DOID:4336 +name: tinea favosa +alt_id: DOID:0050109 +def: "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm] +synonym: "Favus" EXACT [NCI2004_11_17:C35072] +synonym: "favus" EXACT [] +synonym: "Favus NOS" EXACT [MTHICD9_2006:110.9] +synonym: "Tinea favosa (disorder)" EXACT [SNOMEDCT_2005_07_31:85375000] +xref: ICD10CM:B35 +xref: MSH:D014007 +xref: NCI:C35072 +xref: SNOMEDCT_US_2015_03_01:85375000 +xref: UMLS_CUI:C0040254 +is_a: DOID:4337 ! tinea capitis + +[Term] +id: DOID:4337 +name: tinea capitis +alt_id: DOID:0050114 +alt_id: DOID:12319 +def: "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern." [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000878.htm] +synonym: "Dermatophytosis of scalp" RELATED [] +synonym: "Dermatophytosis of Scalp and Beard" EXACT [NCI2004_11_17:C34536] +synonym: "Dermatophytosis of scalp and beard" EXACT [ICD9CM_2006:110.0] +synonym: "dermatophytosis of scalp or beard" EXACT [] +synonym: "Dermatophytosis of scalp or beard (disorder)" EXACT [SNOMEDCT_2005_07_31:266148000] +synonym: "Dermatophytosis of scalp or beard NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186987005] +synonym: "Scalp ringworm" EXACT [SNOMEDCT_2005_07_31:154396008] +synonym: "Tinea capitis (disorder)" EXACT [SNOMEDCT_2005_07_31:5441008] +synonym: "tinea capitis due to Trichophyton rubrum" EXACT [] +synonym: "Trichophyton rubrum tinea capitis" EXACT [] +xref: ICD9CM:110.0 +xref: NCI:C34536 +xref: SNOMEDCT_US_2015_03_01:186985002 +xref: SNOMEDCT_US_2015_03_01:186987005 +xref: SNOMEDCT_US_2015_03_01:266148000 +xref: UMLS_CUI:C0011640 +is_a: DOID:8913 ! dermatophytosis + +[Term] +id: DOID:434 +name: anterior mediastinum cancer +is_obsolete: true + +[Term] +id: DOID:4346 +name: variegate porphyria +synonym: "Protocoproporphyria" EXACT [MTHICD9_2006:277.1] +synonym: "Protoporphyrinogen oxidase deficiency" EXACT [SNOMEDCT_2005_07_31:276264004] +synonym: "Variegate porphyria (disorder)" EXACT [SNOMEDCT_2005_07_31:58275005] +xref: MSH:D046350 +xref: NCI:C85219 +xref: OMIM:176200 +xref: SNOMEDCT_US_2015_03_01:276264004 +xref: SNOMEDCT_US_2015_03_01:58275005 +xref: UMLS_CUI:C0162532 +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:4347 +name: lymphocele +synonym: "Lymph cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:234110002] +synonym: "Lymphocele (disorder)" EXACT [SNOMEDCT_2005_07_31:234109007] +synonym: "Lymphocyst (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12167004] +xref: MSH:D008210 +xref: NCI:C78442 +xref: SNOMEDCT_US_2015_03_01:12167004 +xref: SNOMEDCT_US_2015_03_01:234109007 +xref: SNOMEDCT_US_2015_03_01:234110002 +xref: UMLS_CUI:C0024248 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:4349 +name: complications occurring mainly in the course of labor and delivery +alt_id: DOID:11084 +alt_id: DOID:11085 +synonym: "Rupture of uterus before onset of labor, antepartum" EXACT [] +synonym: "Rupture of uterus before onset of labor, with delivery" EXACT [] +is_obsolete: true + +[Term] +id: DOID:435 +name: malignant neoplasm of thymus, heart and mediastinum +is_obsolete: true + +[Term] +id: DOID:4350 +name: bovine anaplasmosis +subset: gram-negative_bacterial_infectious_disease +subset: tick-borne_infectious_disease +synonym: "Anaplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13906002] +is_obsolete: true + +[Term] +id: DOID:4351 +name: primary Anaplasmataceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4352 +name: ciliary body cancer +alt_id: DOID:6352 +synonym: "malignant neoplasm of ciliary body" EXACT [] +synonym: "malignant tumor of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:188263008] +synonym: "malignant tumor of the Ciliary body" EXACT [NCI2004_11_17:C4766] +synonym: "neoplasm of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:126998003] +synonym: "tumor of the Ciliary body" EXACT [NCI2004_11_17:C4364] +xref: ICD10CM:C69.4 +xref: NCI:C4364 +xref: NCI:C4766 +xref: SNOMEDCT_US_2015_03_01:126998003 +xref: SNOMEDCT_US_2015_03_01:188263008 +xref: SNOMEDCT_US_2015_03_01:93756008 +xref: UMLS_CUI:C0339349 +xref: UMLS_CUI:C0496833 +is_a: DOID:3479 ! uveal cancer + +[Term] +id: DOID:4353 +name: ciliary body disease +synonym: "Ciliary body disorder" EXACT [SNOMEDCT_2005_07_31:155116005] +synonym: "Ciliary body disorder" EXACT [SNOMEDCT_2005_07_31:267719008] +synonym: "Ciliary body disorder" EXACT [SNOMEDCT_2005_07_31:193481009] +synonym: "disorder of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:68575007] +xref: NCI:C35775 +xref: SNOMEDCT_US_2015_03_01:155116005 +xref: SNOMEDCT_US_2015_03_01:193481009 +xref: SNOMEDCT_US_2015_03_01:267719008 +xref: SNOMEDCT_US_2015_03_01:68575007 +xref: UMLS_CUI:C0271100 +is_a: DOID:240 ! iris disease + +[Term] +id: DOID:4356 +name: regressing malignant melanoma +synonym: "malignant melanoma, regressing (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:39896009] +synonym: "regressing malignant melanoma" EXACT [SNOMEDCT_2005_07_31:189750008] +synonym: "regressing melanoma" EXACT [NCI2004_11_17:C4228] +is_obsolete: true + +[Term] +id: DOID:4357 +name: experimental melanoma +synonym: "Experimental malignant melanoma" EXACT [NCI2004_11_17:C16835] +is_obsolete: true + +[Term] +id: DOID:4358 +name: metastatic melanoma +is_obsolete: true + +[Term] +id: DOID:4359 +name: amelanotic melanoma +synonym: "Amelanotic melanoma" EXACT [NCI2004_11_17:C3802] +synonym: "Amelanotic melanoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:70594002] +xref: MSH:D018328 +xref: NCI:C3802 +xref: SNOMEDCT_US_2015_03_01:70594002 +xref: UMLS_CUI:C0206735 +is_a: DOID:1909 ! melanoma + +[Term] +id: DOID:436 +name: posterior mediastinum cancer +xref: ICD10CM:C38.2 +xref: ICD9CM:164.3 +xref: SNOMEDCT_US_2015_03_01:187888005 +xref: SNOMEDCT_US_2015_03_01:448670003 +xref: UMLS_CUI:C0153502 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:4360 +name: epithelioid cell melanoma +synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:37138001] +synonym: "epithelioid melanoma" EXACT [NCI2004_11_17:C4236] +xref: NCI:C4236 +xref: SNOMEDCT_US_2015_03_01:37138001 +xref: UMLS_CUI:C0334443 +is_a: DOID:1909 ! melanoma + +[Term] +id: DOID:4362 +name: cervical cancer +alt_id: DOID:4361 +def: "A female reproductive organ cancer that is located_in the cervix." [url:http\://cancergenome.nih.gov/cancersselected/cervicalcancer, url:http\://en.wikipedia.org/wiki/Cervical_cancer, url:http\://www.cancer.gov/dictionary?CdrID=444973] +subset: DO_cancer_slim +subset: TopNodes_DOcancerslim +synonym: "cervical neoplasm" EXACT [CSP2005:2016-1746] +synonym: "cervix cancer" EXACT [] +synonym: "cervix uteri cancer" EXACT [] +synonym: "neoplasm of uterine cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:123841004] +synonym: "tumor of the Cervix Uteri" EXACT [NCI2004_11_17:C2940] +synonym: "uterine cervical neoplasm" EXACT [] +xref: ICD10CM:C53 +xref: ICD10CM:C53.9 +xref: ICD9CM:180 +xref: ICD9CM:180.9 +xref: MSH:D002583 +xref: NCI:C2940 +xref: NCI:C9311 +xref: SNOMEDCT_US_2015_03_01:123841004 +xref: SNOMEDCT_US_2015_03_01:188174005 +xref: SNOMEDCT_US_2015_03_01:188186008 +xref: SNOMEDCT_US_2015_03_01:254885005 +xref: SNOMEDCT_US_2015_03_01:363354003 +xref: SNOMEDCT_US_2015_03_01:93752005 +xref: UMLS_CUI:C0007847 +xref: UMLS_CUI:C0007873 +is_a: DOID:120 ! female reproductive organ cancer + +[Term] +id: DOID:4364 +name: malignant breast melanoma +synonym: "breast melanoma" EXACT [NCI2004_11_17:C8410] +synonym: "malignant melanoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:188050009] +xref: NCI:C8410 +xref: SNOMEDCT_US_2015_03_01:188050009 +xref: UMLS_CUI:C0346787 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:4367 +name: apparent mineralocorticoid excess syndrome +synonym: "syndrome of apparent mineralocorticoid excess (disorder)" EXACT [SNOMEDCT_2005_07_31:237770005] +xref: MSH:D043204 +xref: SNOMEDCT_US_2015_03_01:237770005 +xref: UMLS_CUI:C0342488 +is_a: DOID:1701 ! steroid inherited metabolic disorder + +[Term] +id: DOID:4369 +name: brain hypoxia-Ischemia +is_obsolete: true + +[Term] +id: DOID:437 +name: myasthenia gravis +alt_id: DOID:443 +alt_id: DOID:444 +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:G70.0 +xref: ICD10CM:G70.00 +xref: ICD9CM:358.0 +xref: ICD9CM:358.00 +xref: MSH:D009157 +xref: NCI:C60989 +xref: OMIM:254200 +xref: SNOMEDCT_US_2015_03_01:155092009 +xref: SNOMEDCT_US_2015_03_01:193208002 +xref: SNOMEDCT_US_2015_03_01:91637004 +xref: UMLS_CUI:C0026896 +xref: UMLS_CUI:C1260409 +is_a: DOID:438 ! autoimmune disease of the nervous system +is_a: DOID:439 ! neuromuscular junction disease + +[Term] +id: DOID:4370 +name: stomach diverticulosis +xref: MSH:D045724 +xref: UMLS_CUI:C1148546 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:4371 +name: Schnitzler syndrome +synonym: "Schnitzler syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:402415001] +xref: MSH:D019873 +xref: SNOMEDCT_US_2015_03_01:402415001 +xref: UMLS_CUI:C0524988 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:4372 +name: intracranial embolism +alt_id: DOID:1957 +alt_id: DOID:1958 +synonym: "cerebral embolism" EXACT [] +synonym: "Cerebral embolism with cerebral infarction" EXACT [] +xref: ICD10CM:I66 +xref: ICD9CM:434.1 +xref: MSH:D020766 +xref: SNOMEDCT_US_2015_03_01:155402009 +xref: SNOMEDCT_US_2015_03_01:75543006 +xref: UMLS_CUI:C0007780 +xref: UMLS_CUI:C0752140 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:4374 +name: silo filler's disease +synonym: "silo filler disease" EXACT [] +synonym: "Silo-fillers' disease" EXACT [MTHICD9_2006:506.9] +synonym: "Silo-fillers' disease (disorder)" EXACT [SNOMEDCT_2005_07_31:61233003] +xref: MSH:D012832 +xref: SNOMEDCT_US_2015_03_01:61233003 +xref: UMLS_CUI:C0037120 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:4375 +name: agricultural workers' disease +is_obsolete: true + +[Term] +id: DOID:4376 +name: milk allergic reaction +def: "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." [url:http\://en.wikipedia.org/wiki/Milk_hypersensitivity] +xref: MSH:D016269 +xref: UMLS_CUI:C0079840 +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:4377 +name: egg allergy +def: "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy#Foods] +synonym: "Allergy to eggs (disorder)" EXACT [SNOMEDCT_2005_07_31:91930004] +synonym: "Egg allergy" EXACT [SNOMEDCT_2005_07_31:213019003] +synonym: "Egg allergy" EXACT [SNOMEDCT_2005_07_31:157802003] +xref: MSH:D021181 +xref: SNOMEDCT_US_2015_03_01:157802003 +xref: SNOMEDCT_US_2015_03_01:213019003 +xref: SNOMEDCT_US_2015_03_01:91930004 +xref: UMLS_CUI:C0559469 +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:4378 +name: peanut allergic reaction +def: "A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergy#Foods] +synonym: "Allergy to peanuts (disorder)" EXACT [SNOMEDCT_2005_07_31:91935009] +synonym: "Peanut allergy" EXACT [SNOMEDCT_2005_07_31:213021008] +xref: MSH:D021183 +xref: SNOMEDCT_US_2015_03_01:213021008 +xref: SNOMEDCT_US_2015_03_01:91935009 +xref: UMLS_CUI:C0559470 +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:4379 +name: nut allergic reaction +synonym: "Allergy to nuts (disorder)" EXACT [SNOMEDCT_2005_07_31:91934008] +synonym: "Allergy to nuts other than peanuts" EXACT [MTHICD9_2006:V15.05] +synonym: "Nut allergy" EXACT [SNOMEDCT_2005_07_31:395654004] +xref: MSH:D021184 +xref: SNOMEDCT_US_2015_03_01:395654004 +xref: SNOMEDCT_US_2015_03_01:91934008 +xref: UMLS_CUI:C0577620 +is_a: DOID:3044 ! food allergy + +[Term] +id: DOID:438 +name: autoimmune disease of the nervous system +synonym: "autoimmune nervous system disorder" RELATED [CSP2005:1560-5548] +xref: MSH:D020274 +xref: NCI:C99383 +xref: UMLS_CUI:C0751871 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:4381 +name: conventional alveolar rhabdomyosarcoma +is_obsolete: true + +[Term] +id: DOID:4383 +name: solid alveolar rhabdomyosarcoma +comment: OMIM mapping confirmed by DO. [SN]. +is_obsolete: true + +[Term] +id: DOID:4384 +name: orbit alveolar rhabdomyosarcoma +synonym: "Alveolar Rhabdomyosarcoma of the orbit" EXACT [NCI2004_11_17:C6247] +xref: NCI:C6247 +xref: UMLS_CUI:C1335126 +is_a: DOID:3259 ! orbit rhabdomyosarcoma + +[Term] +id: DOID:4385 +name: papillary squamous carcinoma +def: "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation." [url:http\://www.sciencedirect.com/science/article/pii/S0090825803003299] +synonym: "papillary epidermoid carcinoma" EXACT [] +xref: NCI:C4102 +xref: SNOMEDCT_US_2015_03_01:39056008 +xref: UMLS_CUI:C0334244 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:4386 +name: myofibroma +synonym: "Lipoleiomyoma" EXACT [SNOMEDCT_2005_07_31:44598004] +synonym: "Myofibroma" EXACT [SNOMEDCT_2005_07_31:128917003] +synonym: "Myofibroma (morphologic abnormality)" EXACT [] +xref: MSH:D047708 +xref: SNOMEDCT_US_2015_03_01:128917003 +xref: SNOMEDCT_US_2015_03_01:44598004 +xref: UMLS_CUI:C1266121 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:4387 +name: recurrent peripheral primitive neuroectodermal tumor +is_obsolete: true + +[Term] +id: DOID:4388 +name: bone peripheral neuroepithelioma +synonym: "osseous peripheral Neuroepithelioma" EXACT [NCI2004_11_17:C8776] +xref: NCI:C8776 +xref: UMLS_CUI:C0855009 +is_a: DOID:3368 ! bone Ewing's sarcoma + +[Term] +id: DOID:4389 +name: soft tissue peripheral neuroepithelioma +synonym: "peripheral Neuroectodermal tumor of soft tissues" EXACT [NCI2004_11_17:C27471] +xref: NCI:C27471 +xref: UMLS_CUI:C1112437 +is_a: DOID:4232 ! extraosseous Ewing's sarcoma + +[Term] +id: DOID:439 +name: neuromuscular junction disease +def: "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction." [url:http\://en.wikipedia.org/wiki/Neuromuscular_junction_disease] +xref: MSH:D020511 +xref: SNOMEDCT_US_2015_03_01:128213006 +xref: UMLS_CUI:C0751950 +is_a: DOID:440 ! neuromuscular disease + +[Term] +id: DOID:4393 +name: Henipavirus infectious disease +def: "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." [url:http\://en.wikipedia.org/wiki/Henipavirus, url:http\://www.expasy.org/viralzone/all_by_species/85.html] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4394 +name: reticulohistiocytic granuloma +synonym: "Reticulohistiocytic granuloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15960008] +synonym: "Reticulohistiocytoma" EXACT [SNOMEDCT_2005_07_31:189097004] +synonym: "Reticulohistiocytoma" EXACT [SNOMEDCT_2005_07_31:128741006] +synonym: "Solitary Reticulohistiocytoma" EXACT [NCI2004_11_17:C3356] +synonym: "Solitary reticulohistiocytoma" EXACT [SNOMEDCT_2005_07_31:404162004] +xref: MSH:D015616 +xref: NCI:C3356 +xref: SNOMEDCT_US_2015_03_01:128741006 +xref: SNOMEDCT_US_2015_03_01:15960008 +xref: SNOMEDCT_US_2015_03_01:189097004 +xref: SNOMEDCT_US_2015_03_01:404162004 +xref: UMLS_CUI:C0035290 +is_a: DOID:3405 ! histiocytosis + +[Term] +id: DOID:4397 +name: granulomatous dermatitis +xref: NCI:C3505 +xref: UMLS_CUI:C0743086 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:4398 +name: pustulosis of palm and sole +synonym: "Acropustulosis" EXACT [SNOMEDCT_2005_07_31:238610005] +synonym: "Palmoplantar Pustulosis" EXACT [NCI2004_11_17:C34888] +synonym: "Pustular psoriasis of the palms and/or soles" EXACT [SNOMEDCT_2005_07_31:27520001] +xref: ICD10CM:L40.3 +xref: MSH:D011565 +xref: NCI:C34888 +xref: SNOMEDCT_US_2015_03_01:238610005 +xref: SNOMEDCT_US_2015_03_01:27520001 +xref: UMLS_CUI:C0030246 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:4399 +name: acneiform dermatitis +xref: NCI:C35277 +xref: UMLS_CUI:C0234894 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:440 +name: neuromuscular disease +def: "A neuropathy that affect the nerves that control the voluntary muscles." [url:http\://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html] +xref: ICD10CM:G70.9 +xref: ICD9CM:358 +xref: ICD9CM:358.9 +xref: MSH:D009468 +xref: SNOMEDCT_US_2015_03_01:1664005 +xref: SNOMEDCT_US_2015_03_01:193218007 +xref: SNOMEDCT_US_2015_03_01:255522009 +xref: SNOMEDCT_US_2015_03_01:257277002 +xref: UMLS_CUI:C0027868 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:4400 +name: dermatosis papulosa nigra +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dermatosis papulosa nigra" EXACT [SNOMEDCT_2005_07_31:25499005] +synonym: "Dermatosis papulosa nigra (disorder)" EXACT [SNOMEDCT_2005_07_31:254669003] +synonym: "Dermatosis papulosa nigra (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:103672009] +xref: ICD10CM:L82 +xref: MSH:C562379 +xref: NCI:C2984 +xref: OMIM:125600 +xref: SNOMEDCT_US_2015_03_01:103672009 +xref: SNOMEDCT_US_2015_03_01:254669003 +xref: SNOMEDCT_US_2015_03_01:25499005 +xref: UMLS_CUI:C0011645 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:4403 +name: cervical glandular tumor +is_obsolete: true + +[Term] +id: DOID:4404 +name: occupational dermatitis +synonym: "Occupational allergic contact dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:238578002] +synonym: "Occupational Dermatitis" EXACT [NCI2004_11_17:C34859] +synonym: "Occupational dermatitis" EXACT [SNOMEDCT_2005_07_31:200780008] +synonym: "Occupational dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:402587003] +synonym: "Occupational eczema" EXACT [SNOMEDCT_2005_07_31:156338009] +synonym: "Occupational eczema" EXACT [SNOMEDCT_2005_07_31:267842005] +synonym: "Occupational eczema (disorder)" EXACT [SNOMEDCT_2005_07_31:225055005] +synonym: "Occupational eczema (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:83252008] +xref: MSH:D009783 +xref: NCI:C34859 +xref: SNOMEDCT_US_2015_03_01:156338009 +xref: SNOMEDCT_US_2015_03_01:200780008 +xref: SNOMEDCT_US_2015_03_01:225055005 +xref: SNOMEDCT_US_2015_03_01:238578002 +xref: SNOMEDCT_US_2015_03_01:267842005 +xref: SNOMEDCT_US_2015_03_01:402587003 +xref: SNOMEDCT_US_2015_03_01:83252008 +xref: UMLS_CUI:C0028796 +is_a: DOID:2773 ! contact dermatitis + +[Term] +id: DOID:4406 +name: spongiotic dermatitis +synonym: "Spongiotic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:23615008] +xref: NCI:C27037 +xref: SNOMEDCT_US_2015_03_01:23615008 +xref: UMLS_CUI:C0262984 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:4407 +name: phototoxic dermatitis +synonym: "Photosensitisation reaction" EXACT [SNOMEDCT_2005_07_31:84326006] +synonym: "Photosensitive Dermatitis" EXACT [NCI2004_11_17:C4816] +synonym: "Photosensitiveness" EXACT [MTHICD9_2006:692.79] +synonym: "Phototoxic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:53597009] +xref: MSH:D017484 +xref: NCI:C4816 +xref: SNOMEDCT_US_2015_03_01:53597009 +xref: SNOMEDCT_US_2015_03_01:84326006 +xref: UMLS_CUI:C0162830 +is_a: DOID:2772 ! irritant dermatitis +is_a: DOID:3159 ! photosensitivity disease + +[Term] +id: DOID:4409 +name: folliculitis +synonym: "(Folliculitis) or (seborrhea capitis)" EXACT [SNOMEDCT_2005_07_31:201177005] +xref: MSH:D005499 +xref: NCI:C94408 +xref: SNOMEDCT_US_2015_03_01:13600006 +xref: SNOMEDCT_US_2015_03_01:156411003 +xref: SNOMEDCT_US_2015_03_01:201177005 +xref: SNOMEDCT_US_2015_03_01:201183008 +xref: SNOMEDCT_US_2015_03_01:267863007 +xref: UMLS_CUI:C0016436 +is_a: DOID:2723 ! dermatitis +is_a: DOID:421 ! hair disease + +[Term] +id: DOID:4410 +name: contact dermatitis due to arnica +synonym: "Allergic Dermatitis due to Arnica" EXACT [NCI2004_11_17:C35308] +synonym: "Contact dermatitis due to arnica (disorder)" EXACT [SNOMEDCT_2005_07_31:40712008] +synonym: "Dermatitis due to arnica" EXACT [MTHICD9_2006:692.3] +is_obsolete: true + +[Term] +id: DOID:4411 +name: hepatitis E +alt_id: DOID:12431 +def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1] +subset: zoonotic_infectious_disease +xref: MSH:D016751 +xref: SNOMEDCT_US_2015_03_01:7111000119109 +xref: UMLS_CUI:C0085293 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:4412 +name: Astroviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." [url:http\://en.wikipedia.org/wiki/Astroviridae] +is_obsolete: true + +[Term] +id: DOID:4413 +name: cervix melanoma +xref: NCI:C40239 +xref: UMLS_CUI:C0877611 +is_a: DOID:4362 ! cervical cancer + +[Term] +id: DOID:4415 +name: fibrous histiocytoma +synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:25889007] +synonym: "fibrous Histiocytoma" EXACT [NCI2004_11_17:C3739] +synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189769003] +synonym: "Fibroxanthoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189770002] +xref: MSH:D018219 +xref: NCI:C3739 +xref: SNOMEDCT_US_2015_03_01:189769003 +xref: SNOMEDCT_US_2015_03_01:189770002 +xref: SNOMEDCT_US_2015_03_01:25889007 +xref: UMLS_CUI:C0206644 +is_a: DOID:4231 ! histiocytoma + +[Term] +id: DOID:4418 +name: cutaneous fibrous histiocytoma +alt_id: DOID:4417 +synonym: "benign Cutaneous fibrous Histiocytoma" EXACT [NCI2004_11_17:C6801] +synonym: "Dermatofibroma" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "dermatofibroma" EXACT [CSP2005:2004-1029] +synonym: "Dermatofibroma NOS" EXACT [SNOMEDCT_2005_07_31:302843004] +synonym: "Dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:72079004] +synonym: "Fibrohistiocytic neoplasm" EXACT [NCI2004_11_17:C8402] +synonym: "fibrohistiocytic tumor" EXACT [] +synonym: "Fibrohistiocytic tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:254749001] +synonym: "fibrous histiocytoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254750001] +synonym: "fibrous xanthoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254753004] +synonym: "Pleomorphic fibroma" EXACT [SNOMEDCT_2005_07_31:403997008] +synonym: "Sclerosing angioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134302009] +synonym: "Sclerosing angioma of skin" EXACT [SNOMEDCT_2005_07_31:403999006] +xref: MSH:D018219 +xref: NCI:C6801 +xref: NCI:C8402 +xref: SNOMEDCT_US_2015_03_01:134302009 +xref: SNOMEDCT_US_2015_03_01:189051001 +xref: SNOMEDCT_US_2015_03_01:254749001 +xref: SNOMEDCT_US_2015_03_01:254750001 +xref: SNOMEDCT_US_2015_03_01:254753004 +xref: SNOMEDCT_US_2015_03_01:302843004 +xref: SNOMEDCT_US_2015_03_01:403997008 +xref: SNOMEDCT_US_2015_03_01:403999006 +xref: SNOMEDCT_US_2015_03_01:427186000 +xref: SNOMEDCT_US_2015_03_01:448015002 +xref: SNOMEDCT_US_2015_03_01:72079004 +xref: UMLS_CUI:C0002991 +xref: UMLS_CUI:C0346049 +is_a: DOID:2438 ! dermis tumor + +[Term] +id: DOID:4419 +name: benign deep fibrous histiocytoma +xref: NCI:C6492 +xref: SNOMEDCT_US_2015_03_01:128741006 +xref: UMLS_CUI:C1266125 +is_a: DOID:0060092 ! immune system organ benign neoplasm + +[Term] +id: DOID:4422 +name: malignant adenofibroma +xref: NCI:C40035 +xref: UMLS_CUI:C1510778 +is_a: DOID:4236 ! carcinosarcoma + +[Term] +id: DOID:4423 +name: sea-blue histiocyte syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Sea-blue histiocyte syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:37821003] +xref: MSH:D012618 +xref: NCI:C85062 +xref: OMIM:269600 +xref: SNOMEDCT_US_2015_03_01:37821003 +xref: UMLS_CUI:C0036489 +is_a: DOID:1927 ! sphingolipidosis +is_a: DOID:4330 ! non-langerhans-cell histiocytosis + +[Term] +id: DOID:4424 +name: juvenile xanthogranuloma +synonym: "Multiple eruptive juvenile xanthogranuloma" EXACT [SNOMEDCT_2005_07_31:400204000] +synonym: "Naevoxanthoendothelioma" EXACT [SNOMEDCT_2005_07_31:189098009] +synonym: "Xanthoma neviforme" EXACT [SNOMEDCT_2005_07_31:71709009] +synonym: "Xanthoma neviforme" EXACT [SNOMEDCT_2005_07_31:400031009] +xref: MSH:D014972 +xref: NCI:C3451 +xref: SNOMEDCT_US_2015_03_01:189098009 +xref: SNOMEDCT_US_2015_03_01:400031009 +xref: SNOMEDCT_US_2015_03_01:400204000 +xref: SNOMEDCT_US_2015_03_01:71709009 +xref: UMLS_CUI:C0043324 +is_a: DOID:4330 ! non-langerhans-cell histiocytosis + +[Term] +id: DOID:4425 +name: lipogranuloma +synonym: "Lipogranuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:416439000] +synonym: "Lipogranuloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36279001] +synonym: "lipogranulomatosis" EXACT [CSP2005:1746-4981] +synonym: "Oil granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:238892000] +synonym: "Xanthogranuloma" EXACT [NCI2004_11_17:C27302] +synonym: "Xanthogranuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:189099001] +is_obsolete: true + +[Term] +id: DOID:4428 +name: dyslexia +def: "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability." [url:http\://en.wikipedia.org/wiki/Dyslexia] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:F81.0 +xref: MSH:D004410 +xref: NCI:C96410 +xref: OMIM:127700 +xref: OMIM:300509 +xref: OMIM:600202 +xref: OMIM:604254 +xref: OMIM:606616 +xref: OMIM:606896 +xref: OMIM:608995 +xref: SNOMEDCT_US_2015_03_01:154954003 +xref: SNOMEDCT_US_2015_03_01:158318003 +xref: SNOMEDCT_US_2015_03_01:192137002 +xref: SNOMEDCT_US_2015_03_01:206987006 +xref: SNOMEDCT_US_2015_03_01:268788005 +xref: SNOMEDCT_US_2015_03_01:52824009 +xref: SNOMEDCT_US_2015_03_01:59770006 +xref: SNOMEDCT_US_2015_03_01:9236007 +xref: UMLS_CUI:C0476254 +is_a: DOID:13365 ! reading disorder + +[Term] +id: DOID:4430 +name: somatostatinoma +synonym: "Somatostatin cell neoplasm" EXACT [NCI2004_11_17:C3379] +synonym: "Somatostatin cell tumour" EXACT [SNOMEDCT_2005_07_31:128642005] +synonym: "Somatostatinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:253006001] +xref: MSH:D013005 +xref: NCI:C3379 +xref: SNOMEDCT_US_2015_03_01:128642005 +xref: SNOMEDCT_US_2015_03_01:253006001 +xref: UMLS_CUI:C0037661 +is_a: DOID:169 ! neuroendocrine tumor + +[Term] +id: DOID:4432 +name: pancreatic somatostatinoma +synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [] +synonym: "pancreatic Somatostatin cell tumor" EXACT [NCI2004_11_17:C8006] +xref: NCI:C8006 +xref: NCI:C95595 +xref: UMLS_CUI:C1368041 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:4433 +name: pancreatic delta cell neoplasm +synonym: "pancreatic Delta cell tumor" EXACT [NCI2004_11_17:C28396] +xref: NCI:C28396 +xref: UMLS_CUI:C1335301 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:4434 +name: small intestine neuroendocrine neoplasm +synonym: "small Intestine neuroendocrine tumor" EXACT [NCI2004_11_17:C5803] +xref: NCI:C5803 +xref: UMLS_CUI:C1336005 +is_a: DOID:7505 ! small intestine neoplasm + +[Term] +id: DOID:4435 +name: cavernous sinus meningioma +synonym: "meningioma of the Cavernous sinus" EXACT [NCI2004_11_17:C5268] +xref: NCI:C5268 +xref: UMLS_CUI:C1332865 +is_a: DOID:3842 ! skull base neoplasm + +[Term] +id: DOID:4436 +name: anterior cranial fossa meningioma +synonym: "meningioma of the Anterior Fossa" EXACT [NCI2004_11_17:C5286] +xref: NCI:C5286 +xref: UMLS_CUI:C1332301 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4437 +name: skull base meningioma +synonym: "meningioma of the Skull Base" EXACT [NCI2004_11_17:C5272] +xref: NCI:C5272 +xref: UMLS_CUI:C1335976 +is_a: DOID:3842 ! skull base neoplasm + +[Term] +id: DOID:4438 +name: central nervous system germinoma +synonym: "germinoma of CNS" EXACT [NCI2004_11_17:C7009] +xref: NCI:C7009 +xref: UMLS_CUI:C1333813 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:4439 +name: central nervous system germ cell tumor +synonym: "germ cell tumor of the CNS" EXACT [NCI2004_11_17:C5461] +xref: NCI:C5461 +xref: UMLS_CUI:C1332880 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:4440 +name: seminoma +def: "A germinoma that has_material_basis_in cells that make sperm and eggs." [url:http\://www.cancer.gov/dictionary?CdrID=46577] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Seminoma, Pure" EXACT [NCI2004_11_17:C9309] +xref: MSH:D018239 +xref: NCI:C7328 +xref: NCI:C9309 +xref: OMIM:273300 +xref: SNOMEDCT_US_2015_03_01:154532006 +xref: SNOMEDCT_US_2015_03_01:188228003 +xref: SNOMEDCT_US_2015_03_01:189840000 +xref: SNOMEDCT_US_2015_03_01:189841001 +xref: SNOMEDCT_US_2015_03_01:255107005 +xref: SNOMEDCT_US_2015_03_01:269603004 +xref: SNOMEDCT_US_2015_03_01:36741007 +xref: SNOMEDCT_US_2015_03_01:443675005 +xref: UMLS_CUI:C0036631 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:4441 +name: dysgerminoma +def: "A germ cell cancer that derives_from cells that give rise to egg cells." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] +xref: MSH:D004407 +xref: NCI:C2996 +xref: SNOMEDCT_US_2015_03_01:60718004 +xref: UMLS_CUI:C0013377 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:4442 +name: cervical alveolar soft part sarcoma +def: "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix." [url:http\://www.ncbi.nlm.nih.gov/pubmed/2479947] +xref: NCI:C40225 +xref: UMLS_CUI:C1516408 +is_a: DOID:4362 ! cervical cancer + +[Term] +id: DOID:4443 +name: cervical soft tissue tumor +is_obsolete: true + +[Term] +id: DOID:4445 +name: arachnoid cyst +synonym: "Arachnoid cyst" EXACT [MTHICD9_2006:348.0] +synonym: "Arachnoid cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:33595009] +synonym: "Leptomeningeal Cyst" EXACT [NCI2004_11_17:C3455] +is_obsolete: true + +[Term] +id: DOID:4446 +name: central nervous system cyst +synonym: "Cyst of central nervous system (disorder)" EXACT [SNOMEDCT_2005_07_31:277333006] +synonym: "Cyst of the CNS" EXACT [NCI2004_11_17:C4657] +is_obsolete: true + +[Term] +id: DOID:4447 +name: cystoid macular edema +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cystoid Macular Edema" EXACT [NCI2004_11_17:C34794] +synonym: "Cystoid macular edema" EXACT [MTHICD9_2006:362.53] +synonym: "Cystoid macular edema (disorder)" EXACT [SNOMEDCT_2005_07_31:193387007] +xref: MSH:D008269 +xref: NCI:C34794 +xref: OMIM:153880 +xref: SNOMEDCT_US_2015_03_01:193387007 +xref: UMLS_CUI:C0024440 +is_a: DOID:4449 ! macular retinal edema + +[Term] +id: DOID:4448 +name: macular degeneration +def: "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss." [url:http\://ghr.nlm.nih.gov/condition/age-related-macular-degeneration, url:http\://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Macular degeneration of retina, unspecified" EXACT [MTHICD9_2006:362.50] +xref: ORDO:279 +xref: SNOMEDCT_US_2015_03_01:302891003 +xref: SNOMEDCT_US_2015_03_01:422338006 +xref: UMLS_CUI:C0024437 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:4449 +name: macular retinal edema +synonym: "MACULAR EDEMA" EXACT [MTH:NOCODE] +synonym: "Macular Edema" EXACT [NCI2004_11_17:C35468] +synonym: "macular edema" EXACT [CSP2005:0465-4760] +synonym: "macular edema" EXACT [CSP2005:1114-9311] +synonym: "Macular retinal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:37231002] +xref: MSH:D008269 +xref: NCI:C35468 +xref: SNOMEDCT_US_2015_03_01:37231002 +xref: UMLS_CUI:C0271051 +is_a: DOID:6929 ! retinal edema + +[Term] +id: DOID:445 +name: Bartter disease +synonym: "Aldosteronism with hyperplasia of the adrenal cortex" EXACT [SNOMEDCT_2005_07_31:71275003] +synonym: "Bartter's syndrome" EXACT [NCI2004_11_17:C34412] +synonym: "Bartter's syndrome" EXACT [SNOMEDCT_2005_07_31:190506003] +synonym: "Bartter's syndrome" EXACT [CSP2005:1849-1690] +synonym: "Bartter's syndrome" EXACT [ICD9CM_2006:255.13] +xref: ICD10CM:E26.81 +xref: ICD9CM:255.13 +xref: MSH:D001477 +xref: NCI:C34412 +xref: OMIM:241200 +xref: OMIM:601678 +xref: OMIM:602522 +xref: OMIM:607364 +xref: OMIM:613090 +xref: SNOMEDCT_US_2015_03_01:190506003 +xref: SNOMEDCT_US_2015_03_01:707742001 +xref: SNOMEDCT_US_2015_03_01:71275003 +xref: UMLS_CUI:C0004775 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:4450 +name: renal cell carcinoma +def: "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=661352] +comment: Xref MGI. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "adenocarcinoma of kidney" EXACT [SNOMEDCT_2005_07_31:254915003] +synonym: "hypernephroma (disorder)" EXACT [SNOMEDCT_2005_07_31:188251003] +synonym: "RCC" EXACT [CSP2005:4003-0049] +xref: EFO:0000681 +xref: MSH:D002292 +xref: NCI:C9385 +xref: OMIM:300854 +xref: SNOMEDCT_US_2015_03_01:254915003 +xref: SNOMEDCT_US_2015_03_01:41607009 +xref: SNOMEDCT_US_2015_03_01:702391001 +xref: UMLS_CUI:C0007134 +is_a: DOID:4451 ! renal carcinoma + +[Term] +id: DOID:4451 +name: renal carcinoma +def: "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products)." [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma] +subset: DO_cancer_slim +synonym: "carcinoma of kidney" EXACT [SNOMEDCT_2005_07_31:254915003] +synonym: "kidney carcinoma" EXACT [] +xref: NCI:C9384 +xref: SNOMEDCT_US_2015_03_01:254915003 +xref: UMLS_CUI:C1378703 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:4452 +name: recurrent renal cell carcinoma +synonym: "Relapsed Renal cell carcinoma" EXACT [NCI2004_11_17:C7825] +is_obsolete: true + +[Term] +id: DOID:4454 +name: childhood kidney cell carcinoma +synonym: "pediatric renal cell carcinoma" EXACT [NCI2004_11_17:C6568] +xref: NCI:C6568 +xref: UMLS_CUI:C1333001 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4455 +name: hereditary renal cell carcinoma +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:446 +name: hyperaldosteronism +def: "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands." [url:http\://en.wikipedia.org/wiki/Hyperaldosteronism] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:E26 +xref: ICD10CM:E26.9 +xref: ICD9CM:255.1 +xref: ICD9CM:255.10 +xref: MSH:D006929 +xref: NCI:C113213 +xref: OMIM:605635 +xref: OMIM:613677 +xref: ORDO:235936 +xref: SNOMEDCT_US_2015_03_01:154709005 +xref: SNOMEDCT_US_2015_03_01:190506003 +xref: SNOMEDCT_US_2015_03_01:190509005 +xref: SNOMEDCT_US_2015_03_01:267484005 +xref: SNOMEDCT_US_2015_03_01:88213004 +xref: UMLS_CUI:C0020428 +is_a: DOID:3947 ! adrenal gland hyperfunction + +[Term] +id: DOID:4463 +name: multilocular clear cell renal cell carcinoma +synonym: "cystadenocarcinoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254916002] +synonym: "renal cystadenocarcinoma" EXACT [NCI2004_11_17:C4524] +xref: NCI:C4524 +xref: SNOMEDCT_US_2015_03_01:254916002 +xref: UMLS_CUI:C0346249 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4464 +name: collecting duct carcinoma +def: "Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body)." [URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] +synonym: "carcinoma of renal Collecting duct" EXACT [NCI2004_11_17:C6194] +synonym: "renal carcinoma, collecting duct type" EXACT [SNOMEDCT_2005_07_31:128669006] +synonym: "renal Medullary carcinoma" EXACT [NCI2004_11_17:C7572] +xref: MSH:D002292 +xref: NCI:C6194 +xref: NCI:C7572 +xref: SNOMEDCT_US_2015_03_01:128669006 +xref: UMLS_CUI:C1266044 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4465 +name: papillary renal cell carcinoma +alt_id: DOID:8063 +def: "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors." [url:http\://cancergenome.nih.gov/cancersselected/kidneypapillary, url:http\://www.omim.org/entry/605074, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Chromophil carcinoma of kidney" EXACT [NCI2004_11_17:C6975] +synonym: "papillary kidney carcinoma" EXACT [] +synonym: "Papillary renal cell carcinoma" EXACT [SNOMEDCT_2005_07_31:4797003] +synonym: "sporadic papillary renal cell carcinoma" EXACT [] +xref: MSH:C538614 +xref: MSH:D002292 +xref: NCI:C27890 +xref: NCI:C6975 +xref: OMIM:605074 +xref: SNOMEDCT_US_2015_03_01:4797003 +xref: UMLS_CUI:C1306837 +xref: UMLS_CUI:C1336078 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4467 +name: renal clear cell carcinoma +def: "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." [url:http\://cancergenome.nih.gov/cancersselected/kidneyclearcell, url:http\://www.cancer.gov/dictionary?CdrID=45063, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] +comment: MSH:C538445 added from NeuroDevNet [WAK]. +subset: DO_cancer_slim +synonym: "Clear cell carcinoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254915003] +synonym: "clear cell kidney carcinoma" EXACT [] +synonym: "Clear-cell metastatic renal cell carcinoma" RELATED [MSH:C538445] +synonym: "conventional (Clear cell) renal cell carcinoma" EXACT [MTH:NOCODE] +synonym: "conventional renal cell carcinoma" EXACT [NCI2004_11_17:C4033] +xref: MSH:D002292 +xref: NCI:C4033 +xref: SNOMEDCT_US_2015_03_01:188251003 +xref: SNOMEDCT_US_2015_03_01:254915003 +xref: SNOMEDCT_US_2015_03_01:41607009 +xref: UMLS_CUI:C0279702 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4468 +name: clear cell adenocarcinoma +alt_id: DOID:2617 +alt_id: DOID:4940 +def: "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] +synonym: "Clear cell adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30546008] +synonym: "Clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189633003] +synonym: "malignant Mesonephroma" EXACT [NCI2004_11_17:C4072] +synonym: "Mesonephroid Clear cell carcinoma" EXACT [NCI2004_11_17:C3766] +synonym: "mesonephroma" EXACT [] +synonym: "Mesonephroma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189861007] +synonym: "Mesonephroma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2221008] +synonym: "Water-Clear cell adenocarcinoma" EXACT [NCI2004_11_17:C4156] +synonym: "Water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:80727009] +synonym: "Water-clear cell carcinoma" EXACT [] +synonym: "Wolffian duct neoplasm" EXACT [NCI2004_11_17:C6782] +xref: MSH:D008649 +xref: MSH:D018262 +xref: NCI:C36815 +xref: NCI:C3766 +xref: NCI:C4072 +xref: NCI:C4156 +xref: SNOMEDCT_US_2015_03_01:189633003 +xref: SNOMEDCT_US_2015_03_01:189861007 +xref: SNOMEDCT_US_2015_03_01:2221008 +xref: SNOMEDCT_US_2015_03_01:30546008 +xref: SNOMEDCT_US_2015_03_01:80727009 +xref: UMLS_CUI:C0025490 +xref: UMLS_CUI:C0206681 +xref: UMLS_CUI:C0334322 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:447 +name: renal tubular transport disease +synonym: "inborn renal tubular transport disorder" EXACT [CSP2005:1849-8301] +xref: MSH:D015499 +xref: UMLS_CUI:C0035091 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:4471 +name: chromophobe adenocarcinoma +def: "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells." [url:http\://cancergenome.nih.gov/cancersselected/ChromophobeRenalCellCarcinoma, url:http\://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf, URL:http\://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html] +subset: DO_cancer_slim +synonym: "Chromophobe carcinoma of kidney" EXACT [NCI2004_11_17:C4146] +synonym: "chromophobe renal cell carcinoma" EXACT [] +synonym: "kidney chromophobe" EXACT [] +synonym: "renal cell carcinoma, chromophobe cell" EXACT [SNOMEDCT_2005_07_31:128667008] +xref: MSH:D002292 +xref: NCI:C4146 +xref: SNOMEDCT_US_2015_03_01:128667008 +xref: SNOMEDCT_US_2015_03_01:1443001 +xref: UMLS_CUI:C1266042 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4472 +name: mucinous tubular and spindle renal cell carcinoma +xref: NCI:C39807 +xref: UMLS_CUI:C1513719 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4473 +name: sarcomatoid renal cell carcinoma +synonym: "renal cell carcinoma, spindle cell" EXACT [SNOMEDCT_2005_07_31:128668003] +xref: MSH:D002292 +xref: NCI:C27893 +xref: SNOMEDCT_US_2015_03_01:128668003 +xref: UMLS_CUI:C1266043 +is_a: DOID:4450 ! renal cell carcinoma + +[Term] +id: DOID:4478 +name: drug-Induced dyskinesia +synonym: "Drug-induced dyskinesia" EXACT [SNOMEDCT_2005_07_31:38941006] +synonym: "Drug-induced dyskinesia (disorder)" EXACT [SNOMEDCT_2005_07_31:102448004] +is_obsolete: true + +[Term] +id: DOID:4479 +name: pseudohypoaldosteronism +synonym: "Pseudohypoaldosteronism (disorder)" EXACT [SNOMEDCT_2005_07_31:77098009] +xref: MSH:D011546 +xref: NCI:C85034 +xref: SNOMEDCT_US_2015_03_01:77098009 +xref: UMLS_CUI:C0033805 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:448 +name: facial neoplasm +synonym: "face neoplasm" EXACT [CSP2005:2005-4325] +synonym: "neoplasm of face (disorder)" EXACT [SNOMEDCT_2005_07_31:126632002] +is_obsolete: true + +[Term] +id: DOID:4480 +name: achondroplasia +def: "An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone." [url:http\://en.wikipedia.org/wiki/Achondroplasia, url:http\://ghr.nlm.nih.gov/condition/achondroplasia, url:http\://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, url:http\://www.medicinenet.com/achondroplasia/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001577.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Achondroplastic physique" EXACT [SNOMEDCT_2005_07_31:190584003] +synonym: "Chondrodystrophia" EXACT [MTHICD9_2006:756.4] +synonym: "osteosclerosis congenita" EXACT [CSP2005:2715-2940] +xref: ICD10CM:Q77.4 +xref: MSH:D000130 +xref: NCI:C34345 +xref: OMIM:100800 +xref: SNOMEDCT_US_2015_03_01:190584003 +xref: SNOMEDCT_US_2015_03_01:205467007 +xref: SNOMEDCT_US_2015_03_01:248299001 +xref: SNOMEDCT_US_2015_03_01:268273004 +xref: SNOMEDCT_US_2015_03_01:268350005 +xref: SNOMEDCT_US_2015_03_01:86268005 +xref: UMLS_CUI:C0001080 +is_a: DOID:2256 ! osteochondrodysplasia + +[Term] +id: DOID:4481 +name: allergic rhinitis +alt_id: DOID:12089 +alt_id: DOID:14030 +alt_id: DOID:8241 +alt_id: DOID:8242 +def: "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Allergic_rhinitis, url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www.aaaai.org/patients/resources/easy_reader/rhinitis.pdf, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis] +synonym: "allergic rhinitis due to animal (cat) (dog) hair and dander" EXACT [] +synonym: "allergic rhinitis due to food" EXACT [] +synonym: "Allergic rhinitis due to pollen" EXACT [ICD9CM_2006:477.0] +synonym: "Allergic rhinitis due to pollen (disorder)" EXACT [SNOMEDCT_2005_07_31:21719001] +synonym: "Allergy to pollen (disorder)" EXACT [SNOMEDCT_2005_07_31:300910009] +synonym: "atopic rhinitis" EXACT [] +synonym: "Hay Fever" EXACT [MTH:040] +synonym: "hay fever" EXACT [] +synonym: "Hay fever - pollens" EXACT [SNOMEDCT_2005_07_31:195818002] +synonym: "Non-seasonal allergic rhinitis" EXACT [SNOMEDCT_2005_07_31:38103000] +synonym: "Perenial allergic rhinitis" EXACT [SNOMEDCT_2005_07_31:266386004] +synonym: "Perenial allergic rhinitis" EXACT [SNOMEDCT_2005_07_31:155537009] +synonym: "pollenosis" EXACT [CSP2005:1524-8625, CSP2005:1525-2316] +synonym: "Pollinosis" EXACT [MTHICD9_2006:477.0] +synonym: "Seasonal allergic rhinitis" EXACT [SNOMEDCT_2005_07_31:155536000, SNOMEDCT_2005_07_31:155537009, SNOMEDCT_2005_07_31:266386004] +synonym: "seasonal allergic rhinitis" EXACT [] +synonym: "Seasonal allergic rhinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:367498001] +synonym: "Seasonal allergic rhinitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:70369002] +xref: EFO:0003956 +xref: NCI:C34987 +xref: OMIM:607154 +xref: SNOMEDCT_US_2015_03_01:38103000 +xref: UMLS_CUI:C0002103 +is_a: DOID:4483 ! rhinitis + +[Term] +id: DOID:4483 +name: rhinitis +def: "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip." [url:http\://en.wikipedia.org/wiki/Rhinitis] +synonym: "runny nose" RELATED [] +xref: MSH:D012220 +xref: NCI:C34986 +xref: SNOMEDCT_US_2015_03_01:70076002 +xref: UMLS_CUI:C0035455 +is_a: DOID:2163 ! nasal cavity disease + +[Term] +id: DOID:4486 +name: malignant biphasic mesothelioma +synonym: "Mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30383009] +synonym: "mixed Mesothelioma" EXACT [NCI2004_11_17:C4282] +xref: NCI:C4282 +xref: SNOMEDCT_US_2015_03_01:30383009 +xref: UMLS_CUI:C0334515 +is_a: DOID:1790 ! malignant mesothelioma + +[Term] +id: DOID:4488 +name: sarcomatoid mesothelioma +synonym: "malignant fibrous Mesothelioma" EXACT [NCI2004_11_17:C6747] +synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:209241006] +synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399477001] +synonym: "spindled mesothelioma" EXACT [SNOMEDCT_2005_07_31:54443001] +xref: NCI:C45655 +xref: SNOMEDCT_US_2015_03_01:209241006 +xref: SNOMEDCT_US_2015_03_01:399477001 +xref: SNOMEDCT_US_2015_03_01:54443001 +xref: UMLS_CUI:C0334513 +is_a: DOID:1790 ! malignant mesothelioma + +[Term] +id: DOID:4489 +name: malignant epithelial mesothelioma +synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:65278006] +xref: NCI:C7985 +xref: SNOMEDCT_US_2015_03_01:65278006 +xref: UMLS_CUI:C0862312 +is_a: DOID:1790 ! malignant mesothelioma + +[Term] +id: DOID:449 +name: head neoplasm +synonym: "head neoplasm" EXACT [CSP2005:2005-4325] +synonym: "neoplasm of head (disorder)" EXACT [SNOMEDCT_2005_07_31:126631009] +synonym: "neoplasm of the head" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4490 +name: malignant peritoneal solitary fibrous tumor +synonym: "Pleural and peritoneal Solitary fibrous tumor" EXACT [NCI2004_11_17:C6893] +is_a: DOID:1725 ! peritoneum cancer + +[Term] +id: DOID:4491 +name: persian gulf syndrome +def: "A syndrome affecting returning military veterans and civilian workers of the Gulf War." [url:http\://en.wikipedia.org/wiki/Gulf_War_syndrome] +synonym: "Gulf war syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:95877004] +xref: MSH:D018923 +xref: SNOMEDCT_US_2015_03_01:95877004 +xref: UMLS_CUI:C0282550 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:4492 +name: avian influenza +def: "An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." [url:http\://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm, url:http\://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza] +subset: zoonotic_infectious_disease +synonym: "avian flu" EXACT [] +synonym: "bird flu" EXACT [] +xref: ICD10CM:J09.X +xref: MSH:D005585 +xref: SNOMEDCT_US_2015_03_01:55604004 +xref: UMLS_CUI:C0016627 +is_a: DOID:8469 ! influenza + +[Term] +id: DOID:4493 +name: Orthomyxoviridae infectious disease +def: "A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae] +synonym: "disease due to Orthomyxoviridae (disorder)" EXACT [SNOMEDCT_2005_07_31:65093003] +synonym: "Orthomyxoviridae disease" EXACT [CSP2005:3099-9876] +is_obsolete: true + +[Term] +id: DOID:4496 +name: metastatic malignant neoplasm to the cervix +synonym: "metastasis to the Cervix Uteri" EXACT [NCI2004_11_17:C6385] +synonym: "secondary malignant neoplasm of cervix uteri (disorder)" EXACT [SNOMEDCT_2005_07_31:188469005] +synonym: "secondary malignant neoplasm of uterine cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:94251007] +is_obsolete: true + +[Term] +id: DOID:4499 +name: child nutrition disorder +is_obsolete: true + +[Term] +id: DOID:450 +name: myotonic disease +def: "A muscular dystrophy that is characterized by progressive muscle wasting and weakness." [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.genome.gov/25521207] +xref: ICD10CM:G71.1 +xref: ICD9CM:359.2 +xref: MSH:D020967 +xref: NCI:C84913 +xref: SNOMEDCT_US_2015_03_01:155096007 +xref: SNOMEDCT_US_2015_03_01:193237003 +xref: SNOMEDCT_US_2015_03_01:193240003 +xref: SNOMEDCT_US_2015_03_01:267713009 +xref: UMLS_CUI:C0553604 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:4500 +name: hypokalemia +synonym: "hypopotassemia " RELATED [] +synonym: "potassium deficiency disorder " RELATED [] +xref: NCI:C34939 +xref: UMLS_CUI:C1514284 +is_a: DOID:0050032 ! mineral metabolism disease + +[Term] +id: DOID:4501 +name: orofaciodigital syndrome +def: "A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene." [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: MSH:D009958 +xref: UMLS_CUI:C0029294 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:4502 +name: relapsed angiosarcoma +synonym: "relapsed hemangiosarcoma" EXACT [NCI2004_11_17:C5384] +is_obsolete: true + +[Term] +id: DOID:4504 +name: central nervous system angiosarcoma +def: "A central nervous system sarcoma that is located_in the inner lining of blood vessels." [url:http\://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073] +synonym: "hemangiosarcoma of the CNS" EXACT [NCI2004_11_17:C5450] +xref: NCI:C5450 +xref: UMLS_CUI:C1332875 +is_a: DOID:2133 ! central nervous system sarcoma + +[Term] +id: DOID:4505 +name: pediatric angiosarcoma +def: "An angiosarcoma that affects children." [url:http\://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/] +synonym: "pediatric hemangiosarcoma" EXACT [NCI2004_11_17:C9174] +xref: NCI:C9174 +xref: UMLS_CUI:C0279988 +is_a: DOID:0001816 ! angiosarcoma + +[Term] +id: DOID:4509 +name: angiosarcoma associated with lymphedema +is_obsolete: true + +[Term] +id: DOID:4510 +name: aorta angiosarcoma +def: "An angiosarcoma that is located_in the aorta." [url:http\://icvts.ctsnetjournals.org/cgi/content/full/6/6/832] +synonym: "Aortic hemangiosarcoma" EXACT [NCI2004_11_17:C5376] +xref: NCI:C5376 +xref: UMLS_CUI:C1332312 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:4511 +name: breast angiosarcoma +def: "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area." [url:http\://breastcancer.about.com/od/types/p/angiosarcoma.htm] +synonym: "hemangiosarcoma of the breast" EXACT [NCI2004_11_17:C5184] +xref: MSH:C536368 +xref: NCI:C5184 +xref: UMLS_CUI:C1332614 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:4512 +name: conventional angiosarcoma +xref: NCI:C9426 +xref: UMLS_CUI:C1333155 +is_a: DOID:0001816 ! angiosarcoma + +[Term] +id: DOID:4513 +name: gallbladder angiosarcoma +def: "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15861270] +synonym: "hemangiosarcoma of gallbladder" EXACT [NCI2004_11_17:C5840] +xref: NCI:C5840 +xref: UMLS_CUI:C1333742 +is_a: DOID:0001816 ! angiosarcoma + +[Term] +id: DOID:4514 +name: thyroid angiosarcoma +def: "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter." [url:http\://www.pathologyoutlines.com/thyroid.html] +synonym: "hemangiosarcoma of the Thyroid" EXACT [NCI2004_11_17:C6043] +xref: NCI:C6043 +xref: UMLS_CUI:C1336748 +is_a: DOID:4515 ! thyroid sarcoma + +[Term] +id: DOID:4515 +name: thyroid sarcoma +def: "A thyroid cancer that is located_in the supporting cells of the thyroid." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp] +synonym: "sarcoma of the Thyroid gland" EXACT [NCI2004_11_17:C6041] +xref: NCI:C6041 +xref: UMLS_CUI:C1336756 +is_a: DOID:1781 ! thyroid cancer + +[Term] +id: DOID:4517 +name: skin angiosarcoma +def: "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration." [url:http\://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634] +synonym: "angiosarcoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254794007] +synonym: "hemangiosarcoma of the skin" EXACT [NCI2004_11_17:C4489] +xref: NCI:C4489 +xref: SNOMEDCT_US_2015_03_01:254794007 +xref: UMLS_CUI:C0346081 +is_a: DOID:2687 ! skin sarcoma + +[Term] +id: DOID:452 +name: pleomorphic adenoma +def: "A gastrointestinal benign neoplasm that is a located_in the salivary glands." [url:http\://en.wikipedia.org/wiki/Pleomorphic_adenoma] +synonym: "mixed tumor of the Salivary gland" EXACT [NCI2004_11_17:C35691] +synonym: "Pleomorphic adenoma" EXACT [NCI2004_11_17:C8602] +synonym: "Pleomorphic adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:8360001] +xref: MSH:D008949 +xref: NCI:C35691 +xref: NCI:C8602 +xref: OMIM:181030 +xref: SNOMEDCT_US_2015_03_01:8360001 +xref: UMLS_CUI:C0026277 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:4520 +name: cervical endometrial stromal sarcoma +synonym: "endometrial stromal sarcoma of the cervix" EXACT [] +xref: NCI:C40220 +xref: UMLS_CUI:C3642326 +is_a: DOID:4521 ! cervix endometrial stromal tumor + +[Term] +id: DOID:4521 +name: cervix endometrial stromal tumor +xref: NCI:C40218 +xref: UMLS_CUI:C3642325 +is_a: DOID:4362 ! cervical cancer + +[Term] +id: DOID:4522 +name: superior vena cava angiosarcoma +synonym: "angiosarcoma of the Superior Vena Cava" EXACT [NCI2004_11_17:C5378] +xref: NCI:C5378 +xref: UMLS_CUI:C1336530 +is_a: DOID:0001816 ! angiosarcoma + +[Term] +id: DOID:4524 +name: prostate angiosarcoma +def: "An angiosarcoma and sarcoma of prostate that is located_in the prostate." [url:http\://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat] +synonym: "Prostatic hemangiosarcoma" EXACT [NCI2004_11_17:C5528] +xref: NCI:C5528 +xref: UMLS_CUI:C1335504 +is_a: DOID:0001816 ! angiosarcoma +is_a: DOID:4054 ! prostate sarcoma + +[Term] +id: DOID:4525 +name: mediastinum angiosarcoma +def: "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum." [url:http\://meeting.chestpubs.org/cgi/content/abstract/124/4/286S] +synonym: "hemangiosarcoma of mediastinum" EXACT [NCI2004_11_17:C6613] +xref: NCI:C6613 +xref: UMLS_CUI:C1334649 +is_a: DOID:0001816 ! angiosarcoma +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:4527 +name: ovarian angiosarcoma +synonym: "hemangiosarcoma of Ovary" EXACT [NCI2004_11_17:C5232] +xref: NCI:C5232 +xref: UMLS_CUI:C1335152 +is_a: DOID:0001816 ! angiosarcoma +is_a: DOID:2146 ! ovary sarcoma + +[Term] +id: DOID:4531 +name: mucoepidermoid carcinoma +def: "A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] +synonym: "MEC" EXACT [NCI2004_11_17:C3772] +synonym: "Mucoepidermoid carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4079000] +xref: MSH:D018277 +xref: NCI:C3772 +xref: SNOMEDCT_US_2015_03_01:4079000 +xref: UMLS_CUI:C0206694 +is_a: DOID:0050904 ! salivary gland carcinoma + +[Term] +id: DOID:4534 +name: Hallermann-Streiff syndrome +def: "A syndrome that affects growth, cranial development, hair growth and dental development." [url:http\://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Francois dyscephalic syndrome" EXACT [] +synonym: "Hallerman - Streiff syndrome" EXACT [SNOMEDCT_2005_07_31:205417000] +synonym: "Hallermann's syndrome" EXACT [] +xref: MSH:D006210 +xref: NCI:C84746 +xref: OMIM:234100 +xref: ORDO:2108 +xref: SNOMEDCT_US_2015_03_01:205417000 +xref: SNOMEDCT_US_2015_03_01:7903009 +xref: UMLS_CUI:C0018522 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:4535 +name: hypotrichosis +def: "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles." [url:http\://en.wikipedia.org/wiki/Hypotrichosis, url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis] +comment: Xref MGI. +subset: DO_MGI_slim +xref: MSH:D007039 +xref: NCI:C34720 +xref: OMIM:146520 +xref: OMIM:146550 +xref: OMIM:278150 +xref: OMIM:601553 +xref: OMIM:604379 +xref: OMIM:605389 +xref: OMIM:607903 +xref: OMIM:612841 +xref: OMIM:613981 +xref: OMIM:614237 +xref: OMIM:614238 +xref: OMIM:615059 +xref: OMIM:615885 +xref: OMIM:615896 +xref: ORDO:55654 +xref: SNOMEDCT_US_2015_03_01:53602002 +xref: UMLS_CUI:C0020678 +is_a: DOID:421 ! hair disease + +[Term] +id: DOID:4539 +name: labyrinthine disease +xref: MSH:D007759 +xref: SNOMEDCT_US_2015_03_01:20425006 +xref: SNOMEDCT_US_2015_03_01:267761002 +xref: SNOMEDCT_US_2015_03_01:267763004 +xref: SNOMEDCT_US_2015_03_01:286945007 +xref: UMLS_CUI:C0022890 +is_a: DOID:2952 ! inner ear disease + +[Term] +id: DOID:4540 +name: dysgraphia +def: "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper." [url:http\://en.wikipedia.org/wiki/Dysgraphia, url:http\://www.ncld.org/ld-basics/ld-aamp-language/written-expression/dysgraphia, url:http\://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm] +xref: ICD10CM:R48.8 +xref: MSH:D000381 +xref: SNOMEDCT_US_2015_03_01:158321001 +xref: SNOMEDCT_US_2015_03_01:206990000 +xref: SNOMEDCT_US_2015_03_01:27206009 +xref: UMLS_CUI:C0001825 +is_a: DOID:0060047 ! writing disorder + +[Term] +id: DOID:4541 +name: nominal aphasia +def: "An agnosia that involves a severe problem with recalling words or names." [url:http\://en.wikipedia.org/wiki/Nominal_aphasia] +synonym: "anomia" EXACT [CSP2005:1579-3166] +synonym: "Anomic aphasia (finding)" EXACT [SNOMEDCT_2005_07_31:10325006] +xref: MSH:D000849 +xref: NCI:C34386 +xref: SNOMEDCT_US_2015_03_01:10325006 +xref: UMLS_CUI:C0003113 +is_a: DOID:0060046 ! aphasia + +[Term] +id: DOID:4542 +name: basophil adenoma +synonym: "Pituitary gland Basophilic adenoma" EXACT [NCI2004_11_17:C2856] +xref: MSH:D000237 +xref: NCI:C2856 +xref: SNOMEDCT_US_2015_03_01:9436005 +xref: UMLS_CUI:C0001431 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:4543 +name: retrograde amnesia +def: "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection." [url:http\://en.wikipedia.org/wiki/Amnesia] +xref: ICD10CM:R41.2 +xref: MSH:D000648 +xref: NCI:C34372 +xref: SNOMEDCT_US_2015_03_01:158178004 +xref: SNOMEDCT_US_2015_03_01:206784007 +xref: SNOMEDCT_US_2015_03_01:51921000 +xref: UMLS_CUI:C0002624 +is_a: DOID:10914 ! amnestic disorder + +[Term] +id: DOID:4545 +name: mesenchymal chondrosarcoma +xref: MSH:D018211 +xref: NCI:C3737 +xref: SNOMEDCT_US_2015_03_01:56565002 +xref: UMLS_CUI:C0206637 +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:4546 +name: pediatric mesenchymal chondrosarcoma +xref: NCI:C27374 +xref: UMLS_CUI:C1332982 +is_a: DOID:4545 ! mesenchymal chondrosarcoma + +[Term] +id: DOID:4547 +name: adult mesenchymal chondrosarcoma +def: "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage." [url:http\://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html] +xref: NCI:C27375 +xref: UMLS_CUI:C1332207 +is_a: DOID:4545 ! mesenchymal chondrosarcoma + +[Term] +id: DOID:4548 +name: extraskeletal mesenchymal chondrosarcoma +synonym: "extraskeletal mesenchymal chondrosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404080006] +synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [NCI2004_11_17:C27481] +xref: NCI:C27481 +xref: SNOMEDCT_US_2015_03_01:404080006 +xref: UMLS_CUI:C1275279 +is_a: DOID:4549 ! extraosseous chondrosarcoma + +[Term] +id: DOID:4549 +name: extraosseous chondrosarcoma +def: "A chondrosarcoma that is located_in exclusively soft tissue." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16084955] +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:4550 +name: anal gland neoplasm +xref: MSH:D000694 +xref: UMLS_CUI:C0002757 +is_a: DOID:4551 ! anus neoplasm + +[Term] +id: DOID:4551 +name: anus neoplasm +synonym: "anal neoplasm" EXACT [CSP2005:2010-1432] +synonym: "anal tumors" EXACT [NCI2004_11_17:C2877] +synonym: "neoplasm of anus (disorder)" EXACT [SNOMEDCT_2005_07_31:126849006] +xref: MSH:D001005 +xref: NCI:C2877 +xref: SNOMEDCT_US_2015_03_01:126849006 +xref: UMLS_CUI:C0003463 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:4552 +name: large cell carcinoma +def: "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm." [url:http\://chemo.net/large.htm, url:http\://en.wikipedia.org/wiki/Carcinoma] +xref: MSH:D018287 +xref: NCI:C3780 +xref: SNOMEDCT_US_2015_03_01:189551005 +xref: SNOMEDCT_US_2015_03_01:22687000 +xref: UMLS_CUI:C0206704 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:4553 +name: thymus large cell carcinoma +synonym: "large cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6461] +xref: NCI:C6461 +xref: UMLS_CUI:C1334364 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:4554 +name: type C thymoma +synonym: "Thymoma, type C (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128717008] +xref: NCI:C7569 +xref: SNOMEDCT_US_2015_03_01:128717008 +xref: SNOMEDCT_US_2015_03_01:444374006 +xref: UMLS_CUI:C1322286 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:4555 +name: ovarian large-cell neuroendocrine carcinoma +synonym: "Non-small-cell type neuroendocrine carcinoma of Ovary" EXACT [NCI2004_11_17:C5238] +xref: NCI:C5238 +xref: UMLS_CUI:C1335174 +is_a: DOID:4001 ! ovarian carcinoma + +[Term] +id: DOID:4556 +name: lung large cell carcinoma +subset: DO_cancer_slim +synonym: "large cell carcinoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:254629004] +synonym: "large cell lung carcinoma" EXACT [NCI2004_11_17:C4450] +xref: NCI:C4450 +xref: SNOMEDCT_US_2015_03_01:254629004 +xref: UMLS_CUI:C0345958 +is_a: DOID:3908 ! non-small cell lung carcinoma + +[Term] +id: DOID:4557 +name: oral leukoedema +synonym: "Leukedema of mouth" EXACT [SNOMEDCT_2005_07_31:67795000] +xref: MSH:D007967 +xref: SNOMEDCT_US_2015_03_01:67795000 +xref: UMLS_CUI:C0023523 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:4558 +name: Ludwig's angina +synonym: "cellulitis of floor of mouth" EXACT [MTHICD9_2006:528.3] +synonym: "Ludwig angina" EXACT [] +xref: MSH:D008158 +xref: SNOMEDCT_US_2015_03_01:196542004 +xref: SNOMEDCT_US_2015_03_01:54572003 +xref: UMLS_CUI:C0024081 +is_a: DOID:3488 ! cellulitis + +[Term] +id: DOID:456 +name: ascariasis +def: "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." [url:http\://en.wikipedia.org/wiki/Ascariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh] +synonym: "Ascariasis - roundworm" EXACT [SNOMEDCT_2005_07_31:271435007] +synonym: "Ascaris lumbricoides infection" RELATED [] +xref: CSP:1248-7284 +xref: ICD10CM:B77 +xref: ICD10CM:B77.9 +xref: ICD9CM:127.0 +xref: MSH:D001196 +xref: SNOMEDCT_US_2015_03_01:154411000 +xref: SNOMEDCT_US_2015_03_01:187172007 +xref: SNOMEDCT_US_2015_03_01:187536006 +xref: SNOMEDCT_US_2015_03_01:2435008 +xref: SNOMEDCT_US_2015_03_01:271435007 +xref: UMLS_CUI:C0003950 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:4560 +name: non specific chronic endometritis +xref: NCI:C27625 +xref: UMLS_CUI:C1335061 +is_a: DOID:1002 ! endometritis + +[Term] +id: DOID:4561 +name: granulomatous endometritis +xref: NCI:C27626 +xref: UMLS_CUI:C1333876 +is_a: DOID:1002 ! endometritis + +[Term] +id: DOID:4562 +name: subacute bacterial endocarditis +subset: gram-positive_bacterial_infectious_disease +synonym: "Endocarditis lenta" EXACT [SNOMEDCT_2005_07_31:50194006] +synonym: "SBE - Subacute bacterial endocarditis" EXACT [SNOMEDCT_2005_07_31:194923008] +synonym: "Subacute bacterial endocarditis" EXACT [SNOMEDCT_2005_07_31:155334001] +synonym: "Subacute bacterial endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:73774007] +synonym: "Subacute endocarditis, lenta" EXACT [MTHICD9_2006:421.0] +xref: MSH:D004698 +xref: NCI:C34583 +xref: SNOMEDCT_US_2015_03_01:155334001 +xref: SNOMEDCT_US_2015_03_01:194923008 +xref: SNOMEDCT_US_2015_03_01:50194006 +xref: SNOMEDCT_US_2015_03_01:73774007 +xref: UMLS_CUI:C0014122 +is_a: DOID:0060000 ! infective endocarditis + +[Term] +id: DOID:457 +name: Ascaridida infectious disease +def: "A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." [url:http\://en.wikipedia.org/wiki/Ascaridida] +is_obsolete: true + +[Term] +id: DOID:4582 +name: metastatic meningioma +is_obsolete: true + +[Term] +id: DOID:4583 +name: deletion of short arm of chromosome 1 (1p) associated meningioma +is_obsolete: true + +[Term] +id: DOID:4584 +name: choroid plexus meningioma +synonym: "Choroid meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253082002] +synonym: "meningioma of the Choroid Plexus" EXACT [NCI2004_11_17:C4719] +xref: NCI:C4719 +xref: SNOMEDCT_US_2015_03_01:253082002 +xref: UMLS_CUI:C0431118 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4585 +name: relapsed meningioma +is_obsolete: true + +[Term] +id: DOID:4586 +name: familial meningioma +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C537443 +xref: NCI:C5301 +xref: OMIM:607174 +xref: UMLS_CUI:C1333989 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4587 +name: benign meningioma +synonym: "meningioma, benign" EXACT [NCI2004_11_17:C4055] +xref: MSH:D008579 +xref: NCI:C4055 +xref: UMLS_CUI:C0281784 +is_a: DOID:0060090 ! central nervous system organ benign neoplasm + +[Term] +id: DOID:4588 +name: secretory meningioma +synonym: "Secretory meningioma" EXACT [NCI2004_11_17:C4718] +synonym: "Secretory meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253081009] +xref: MSH:D008579 +xref: NCI:C4718 +xref: SNOMEDCT_US_2015_03_01:19453003 +xref: SNOMEDCT_US_2015_03_01:253081009 +xref: UMLS_CUI:C1384406 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4589 +name: deletion of chromosome 22 associated meningioma +is_obsolete: true + +[Term] +id: DOID:4590 +name: multiple meningiomas +synonym: "meningiomatosis" EXACT [NCI2004_11_17:C3707] +synonym: "meningiomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:40935003] +synonym: "meningiomatosis NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189942007] +is_obsolete: true + +[Term] +id: DOID:4591 +name: lymphoplasmacyte-rich meningioma +synonym: "Lymphoplasmacyte-Rich meningioma" EXACT [NCI2004_11_17:C4720] +synonym: "Lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253083007] +xref: NCI:C4720 +xref: SNOMEDCT_US_2015_03_01:19453003 +xref: SNOMEDCT_US_2015_03_01:253083007 +xref: UMLS_CUI:C0431119 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4593 +name: pediatric meningioma +xref: NCI:C8264 +xref: UMLS_CUI:C0280656 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4594 +name: microcystic meningioma +synonym: "Microcystic meningioma" EXACT [NCI2004_11_17:C4721] +synonym: "Microcystic meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253084001] +xref: MSH:D008579 +xref: NCI:C4721 +xref: SNOMEDCT_US_2015_03_01:19453003 +xref: SNOMEDCT_US_2015_03_01:253084001 +xref: UMLS_CUI:C1384408 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4595 +name: adult meningioma +is_obsolete: true + +[Term] +id: DOID:4596 +name: central nervous system adult tumor +synonym: "neoplasm of adult CNS" EXACT [NCI2004_11_17:C5131] +is_obsolete: true + +[Term] +id: DOID:4598 +name: deletion of chromosome 3p associated meningioma +is_obsolete: true + +[Term] +id: DOID:4603 +name: epidermolytic hyperkeratosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "bullous congenital ichthyosiform erythroderma" EXACT [] +synonym: "Bullous ichthyosiform erythroderma (disorder)" EXACT [SNOMEDCT_2005_07_31:254167000] +synonym: "Epidermolytic palmoplantar hyperkeratosis" EXACT [SNOMEDCT_2005_07_31:239071005] +xref: ICD10CM:Q80.3 +xref: MSH:D017488 +xref: NCI:C62569 +xref: OMIM:113800 +xref: SNOMEDCT_US_2015_03_01:20512000 +xref: SNOMEDCT_US_2015_03_01:239071005 +xref: SNOMEDCT_US_2015_03_01:254167000 +xref: UMLS_CUI:C0079153 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:4606 +name: bile duct cancer +alt_id: DOID:10019 +def: "A biliary tract cancer that is located_in the bile duct." [url:http\://www.cancer.gov/dictionary/?CdrID=527370] +subset: TopNodes_DOcancerslim +synonym: "bile duct tumor" EXACT [NCI2004_11_17:C2898] +synonym: "Ca extrahepatic bile ducts" EXACT [SNOMEDCT_2005_07_31:154473009] +synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [NCI2004_11_17:C7483] +xref: ICD10CM:C24.0 +xref: ICD9CM:156.1 +xref: MSH:D001650 +xref: NCI:C2898 +xref: NCI:C7483 +xref: SNOMEDCT_US_2015_03_01:154473009 +xref: SNOMEDCT_US_2015_03_01:187787007 +xref: SNOMEDCT_US_2015_03_01:363416002 +xref: SNOMEDCT_US_2015_03_01:93790004 +xref: UMLS_CUI:C0005396 +xref: UMLS_CUI:C0153453 +is_a: DOID:4607 ! biliary tract cancer + +[Term] +id: DOID:4607 +name: biliary tract cancer +alt_id: DOID:8092 +def: "A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Biliary_tract_cancer] +synonym: "malignant tumour of biliary tract" EXACT [SNOMEDCT_2005_07_31:93688006] +xref: ICD10CM:C24.9 +xref: ICD9CM:156.9 +xref: MSH:D001661 +xref: SNOMEDCT_US_2015_03_01:126853008 +xref: SNOMEDCT_US_2015_03_01:363415003 +xref: SNOMEDCT_US_2015_03_01:93688006 +xref: UMLS_CUI:C0005426 +xref: UMLS_CUI:C0750952 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:4608 +name: common bile duct neoplasm +synonym: "neoplasm of common bile duct (disorder)" EXACT [SNOMEDCT_2005_07_31:126857009] +xref: MSH:D003138 +xref: SNOMEDCT_US_2015_03_01:126857009 +xref: UMLS_CUI:C0009442 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:461 +name: muscle benign neoplasm +alt_id: DOID:2692 +synonym: "muscle neoplasm" EXACT [CSP2005:2011-3484] +synonym: "muscle tissue neoplasm" EXACT [] +synonym: "Myomatous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:115228006] +synonym: "Myomatous neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189786009] +synonym: "Myomatous neoplasm NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189801005] +synonym: "Myomatous tumor" EXACT [NCI2004_11_17:C4063] +synonym: "Myomatous tumor (qualifier value)" EXACT [SNOMEDCT_2005_07_31:134329004] +synonym: "neoplasm of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:126616000] +xref: MSH:D009379 +xref: MSH:D019042 +xref: NCI:C4063 +xref: SNOMEDCT_US_2015_03_01:115228006 +xref: SNOMEDCT_US_2015_03_01:126616000 +xref: SNOMEDCT_US_2015_03_01:134329004 +xref: SNOMEDCT_US_2015_03_01:189786009 +xref: SNOMEDCT_US_2015_03_01:189801005 +xref: UMLS_CUI:C0027664 +xref: UMLS_CUI:C0282606 +is_a: DOID:0060099 ! musculoskeletal system benign neoplasm + +[Term] +id: DOID:4610 +name: intestinal benign neoplasm +def: "A gastrointestinal system benign neoplasm that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Benign_tumor] +synonym: "intestinal tumors" EXACT [NCI2004_11_17:C3141] +synonym: "intestine growth" EXACT [CSP2005:2010-1074] +synonym: "neoplasm of intestinal tract" EXACT [SNOMEDCT_2005_07_31:126769007] +xref: MSH:D007414 +xref: NCI:C3141 +xref: SNOMEDCT_US_2015_03_01:126769007 +xref: UMLS_CUI:C0021841 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:4613 +name: ulnar neuropathy +synonym: "Ulnar neuropathy" EXACT [SNOMEDCT_2005_07_31:394515001] +synonym: "Ulnar neuropathy" EXACT [SNOMEDCT_2005_07_31:367399005] +synonym: "Ulnar neuropathy" EXACT [SNOMEDCT_2005_07_31:395205004] +synonym: "Ulnar neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:359837005] +synonym: "Ulnar neuropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:55802003] +xref: MSH:D020424 +xref: SNOMEDCT_US_2015_03_01:359837005 +xref: SNOMEDCT_US_2015_03_01:367399005 +xref: SNOMEDCT_US_2015_03_01:394515001 +xref: SNOMEDCT_US_2015_03_01:395205004 +xref: SNOMEDCT_US_2015_03_01:55802003 +xref: UMLS_CUI:C0154743 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:4615 +name: carcinoma of unknown primary +synonym: "carcinoma of unknown primary" EXACT [NCI2004_11_17:C3812] +is_obsolete: true + +[Term] +id: DOID:4616 +name: bovine atypical interstitial pneumonia +def: "A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf] +synonym: "acute bovine pulmonary emphysema AND edema (disorder)" EXACT [SNOMEDCT_2005_07_31:20606002] +synonym: "Atypical interstitial pneumonia of cattle (disorder)" EXACT [SNOMEDCT_2005_07_31:15341009] +synonym: "Fog fever" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4617 +name: periapical granuloma +synonym: "Apical granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:81407003] +synonym: "Periapical granuloma" EXACT [SNOMEDCT_2005_07_31:196344002] +xref: MSH:D010484 +xref: SNOMEDCT_US_2015_03_01:196344002 +xref: SNOMEDCT_US_2015_03_01:81407003 +xref: UMLS_CUI:C0031029 +is_a: DOID:823 ! periapical periodontitis + +[Term] +id: DOID:4618 +name: maxillary neoplasm +def: "A jaw cancer and maxillary disease that effects the maxilla or upper jaw." [url:http\://www.vitals.com/disorders/ny-new_york-musculoskeletal_diseases-c05-upper_jaw_bone_cancer_maxillary_neoplasm-8094.html] +synonym: "maxillary neoplasm" RELATED [] +synonym: "upper jaw bone cancer" RELATED [] +xref: MSH:D008441 +xref: SNOMEDCT_US_2015_03_01:126550004 +xref: UMLS_CUI:C0024954 +is_a: DOID:1862 ! jaw cancer + +[Term] +id: DOID:462 +name: cancer by anatomical entity +alt_id: DOID:8996 +def: "A cancer that affects an anatomical entity." [DO:lh] +synonym: "malignant neoplasm of aortic body and other paraganglia" EXACT [] +synonym: "malignant neoplasm of aortic body and other paraganglia (disorder)" EXACT [SNOMEDCT_2005_07_31:188343003] +is_obsolete: true + +[Term] +id: DOID:4621 +name: holoprosencephaly +def: "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." [url:http\://en.wikipedia.org/wiki/Holoprosencephaly, url:http\://www.ncbi.nlm.nih.gov/books/NBK1530/] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Holoprosencephaly sequence (disorder)" EXACT [SNOMEDCT_2005_07_31:30915001] +xref: ICD10CM:Q04.2 +xref: MSH:D016142 +xref: NCI:C74988 +xref: OMIM:142945 +xref: OMIM:142946 +xref: OMIM:157170 +xref: OMIM:236100 +xref: OMIM:605934 +xref: OMIM:609408 +xref: OMIM:609637 +xref: OMIM:610828 +xref: OMIM:610829 +xref: OMIM:614226 +xref: ORDO:2162 +xref: SNOMEDCT_US_2015_03_01:30915001 +xref: SNOMEDCT_US_2015_03_01:44519006 +xref: UMLS_CUI:C0079541 +is_a: DOID:2490 ! congenital nervous system abnormality + +[Term] +id: DOID:4624 +name: Ollier disease +def: "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet." [url:http\://en.wikipedia.org/wiki/Ollier_disease, url:http\://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "DYSCHONDROPLASIA" EXACT [] +synonym: "Enchondromatosis with haemangiomata" EXACT [SNOMEDCT_2005_07_31:234135008] +synonym: "ENCHONDROMATOSIS, MULTIPLE" EXACT [] +synonym: "Kast's syndrome" EXACT [SNOMEDCT_2005_07_31:205470006] +synonym: "OSTEOCHONDROMATOSIS" EXACT [] +xref: ICD10CM:Q78.4 +xref: MSH:D004687 +xref: NCI:C3213 +xref: OMIM:166000 +xref: ORDO:296 +xref: SNOMEDCT_US_2015_03_01:205470006 +xref: SNOMEDCT_US_2015_03_01:234135008 +xref: SNOMEDCT_US_2015_03_01:46041001 +xref: UMLS_CUI:C0024454 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:4625 +name: enchondromatosis +synonym: "Enchondromatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:268274005] +synonym: "Ollier disease" EXACT [SNOMEDCT_2005_07_31:16535008] +synonym: "Ollier's disease" EXACT [NCI2004_11_17:C3008] +synonym: "Ollier's disease" EXACT [MTHICD9_2006:756.4] +synonym: "Ollier's disease" EXACT [SNOMEDCT_2005_07_31:205469005] +is_obsolete: true + +[Term] +id: DOID:4626 +name: hydranencephaly +synonym: "Hydranencephaly (disorder)" EXACT [SNOMEDCT_2005_07_31:30023002] +xref: ICD10CM:Q04.3 +xref: MSH:D006832 +xref: NCI:C98949 +xref: SNOMEDCT_US_2015_03_01:30023002 +xref: UMLS_CUI:C0020225 +is_a: DOID:2490 ! congenital nervous system abnormality + +[Term] +id: DOID:4627 +name: ideomotor apraxia +synonym: "Classic apraxia (finding) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:39746003] +synonym: "Ideomotor dyspraxia (disorder)" EXACT [SNOMEDCT_2005_07_31:229706001] +synonym: "Limb-kinetic apraxia (finding)" EXACT [SNOMEDCT_2005_07_31:334621009] +synonym: "Transcortical apraxia (finding)" EXACT [SNOMEDCT_2005_07_31:333633007] +xref: MSH:D020240 +xref: SNOMEDCT_US_2015_03_01:229706001 +xref: SNOMEDCT_US_2015_03_01:333633007 +xref: SNOMEDCT_US_2015_03_01:334621009 +xref: SNOMEDCT_US_2015_03_01:39746003 +xref: UMLS_CUI:C0234523 +is_a: DOID:0060135 ! apraxia + +[Term] +id: DOID:4629 +name: porcine reproductive and respiratory syndrome +def: "A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm, url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf] +is_obsolete: true + +[Term] +id: DOID:4630 +name: inverted transitional papilloma +synonym: "transitional papilloma, inverted" EXACT [SNOMEDCT_2005_07_31:46580000] +xref: NCI:C4118 +xref: SNOMEDCT_US_2015_03_01:46580000 +xref: UMLS_CUI:C0334269 +is_a: DOID:2670 ! transitional papilloma +is_a: DOID:3179 ! inverted papilloma + +[Term] +id: DOID:4631 +name: inverted papilloma of paranasal sinus +synonym: "Inverting papilloma of Accessory sinus" EXACT [NCI2004_11_17:C8195] +is_obsolete: true + +[Term] +id: DOID:4633 +name: nasal cavity inverting papilloma +synonym: "Inverting papilloma of the nasal cavity" EXACT [NCI2004_11_17:C8194] +xref: NCI:C8194 +xref: UMLS_CUI:C0280336 +is_a: DOID:9310 ! nasal cavity neoplasm + +[Term] +id: DOID:4636 +name: submandibular adenitis +synonym: "Submandibular Lymphadenitis" EXACT [NCI2004_11_17:C27016] +synonym: "Submandibular lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:15170009] +xref: NCI:C27016 +xref: SNOMEDCT_US_2015_03_01:15170009 +xref: UMLS_CUI:C0235591 +is_a: DOID:4637 ! cervical adenitis + +[Term] +id: DOID:4637 +name: cervical adenitis +synonym: "cervical Lymphadenitis" EXACT [NCI2004_11_17:C26937] +synonym: "cervical lymphadenitis (disorder)" EXACT [SNOMEDCT_2005_07_31:3502005] +xref: NCI:C26937 +xref: SNOMEDCT_US_2015_03_01:3502005 +xref: UMLS_CUI:C0149642 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:4638 +name: postauricular lymphadenitis +xref: NCI:C27332 +xref: UMLS_CUI:C0919638 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:4639 +name: suppurative lymphadenitis +synonym: "Suppurative lymphadenopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:48573006] +xref: NCI:C27135 +xref: SNOMEDCT_US_2015_03_01:48573006 +xref: UMLS_CUI:C0392051 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:4640 +name: axillary adenitis +xref: NCI:C27333 +xref: UMLS_CUI:C0919797 +is_a: DOID:1602 ! lymphadenitis + +[Term] +id: DOID:4641 +name: Bacteroides infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:4644 +name: epidermolysis bullosa simplex +subset: DO_MGI_slim +synonym: "Epidermolysis bullosa simplex" EXACT [SNOMEDCT_2005_07_31:205585003] +synonym: "Epidermolysis bullosa simplex (disorder)" EXACT [SNOMEDCT_2005_07_31:67144006] +xref: ICD10CM:Q81.0 +xref: MSH:D016110 +xref: NCI:C84692 +xref: OMIM:601001 +xref: OMIM:615425 +xref: SNOMEDCT_US_2015_03_01:205585003 +xref: SNOMEDCT_US_2015_03_01:67144006 +xref: UMLS_CUI:C0079298 +is_a: DOID:2730 ! epidermolysis bullosa + +[Term] +id: DOID:4645 +name: retinal cancer +alt_id: DOID:770 +synonym: "malignant neoplasm of retina" EXACT [] +synonym: "malignant Retinal neoplasm" EXACT [NCI2004_11_17:C3216] +synonym: "malignant tumor of retina (disorder)" EXACT [SNOMEDCT_2005_07_31:363465007] +synonym: "neoplasm of retina" EXACT [SNOMEDCT_2005_07_31:127002001] +synonym: "Retinal tumor" EXACT [NCI2004_11_17:C4800] +xref: ICD10CM:C69.2 +xref: ICD9CM:190.5 +xref: MSH:D019572 +xref: NCI:C3216 +xref: NCI:C4800 +xref: SNOMEDCT_US_2015_03_01:127002001 +xref: SNOMEDCT_US_2015_03_01:363465007 +xref: SNOMEDCT_US_2015_03_01:93987004 +xref: UMLS_CUI:C0024622 +xref: UMLS_CUI:C0524801 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:4647 +name: trilateral retinoblastoma +def: "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region." [url:http\://www.ncbi.nlm.nih.gov/pubmed/10391573] +comment: OMIM mapping confirmed by DO. [LS]. +xref: OMIM:180200 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4648 +name: familial retinoblastoma +synonym: "Hereditary Retinoblastoma" EXACT [NCI2004_11_17:C8495] +xref: MSH:D012175 +xref: NCI:C8495 +xref: UMLS_CUI:C0751483 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4650 +name: bilateral retinoblastoma +def: "A retinoblastoma that develops in both eyes." [url:http\://en.wikipedia.org/wiki/Retinoblastoma] +xref: NCI:C8713 +xref: UMLS_CUI:C0854914 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4651 +name: unilateral retinoblastoma +def: "A retinoblastoma that effects only one eye." [url:http\://en.wikipedia.org/wiki/Retinoblastoma] +xref: NCI:C8714 +xref: UMLS_CUI:C0854915 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4653 +name: intraocular retinoblastoma +def: "A retinoblastoma that is located_in the eye and has not spread to other parts of the body." [url:http\://www.answers.com/topic/intraocular-retinoblastoma] +synonym: "Intraocular Retinoblastoma" EXACT [NCI2004_11_17:C7846] +xref: NCI:C7846 +xref: UMLS_CUI:C0278717 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4655 +name: relapsed retinoblastoma +is_obsolete: true + +[Term] +id: DOID:4656 +name: extraocular retinoblastoma +def: "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] +synonym: "Extraocular Retinoblastoma" EXACT [NCI2004_11_17:C7848] +xref: NCI:C7848 +xref: UMLS_CUI:C0278719 +is_a: DOID:768 ! retinoblastoma + +[Term] +id: DOID:4658 +name: benign mastocytoma +synonym: "benign Mastocytoma" EXACT [NCI2004_11_17:C3217] +xref: ICD10CM:D47.0 +xref: NCI:C9303 +xref: SNOMEDCT_US_2015_03_01:134333006 +xref: SNOMEDCT_US_2015_03_01:189506005 +xref: SNOMEDCT_US_2015_03_01:190020000 +xref: SNOMEDCT_US_2015_03_01:404171008 +xref: SNOMEDCT_US_2015_03_01:89796001 +xref: UMLS_CUI:C0024897 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:4659 +name: extracutaneous mastocytoma +synonym: "Extracutaneous mastocytoma" EXACT [SNOMEDCT_2005_07_31:63175003] +xref: MSH:D034801 +xref: NCI:C7136 +xref: SNOMEDCT_US_2015_03_01:63175003 +xref: UMLS_CUI:C0272202 +is_a: DOID:349 ! systemic mastocytosis +is_a: DOID:3664 ! mast cell neoplasm + +[Term] +id: DOID:4660 +name: indolent systemic mastocytosis +synonym: "Indolent systemic mastocytosis (disorder)" EXACT [SNOMEDCT_2005_07_31:70910003] +synonym: "Indolent systemic mastocytosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397356009] +synonym: "ISM" EXACT [NCI2004_11_17:C9286] +xref: ICD10CM:D47.0 +xref: MSH:D034721 +xref: NCI:C9286 +xref: SNOMEDCT_US_2015_03_01:397356009 +xref: SNOMEDCT_US_2015_03_01:70910003 +xref: UMLS_CUI:C0272203 +is_a: DOID:349 ! systemic mastocytosis +is_a: DOID:3664 ! mast cell neoplasm + +[Term] +id: DOID:4661 +name: multiple chemical sensitivity +def: "A syndrome that is an adverse physical reaction to low levels of many common chemicals." [url:http\://en.wikipedia.org/wiki/Multiple_chemical_sensitivity, url:http\://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html] +synonym: "20th century disease" EXACT [] +synonym: "chemical AIDS" EXACT [] +synonym: "environmental illness" EXACT [] +synonym: "idiopathic environmental illness" EXACT [] +synonym: "total allergy syndrome" EXACT [] +xref: MSH:D018777 +xref: SNOMEDCT_US_2015_03_01:702772003 +xref: UMLS_CUI:C0242992 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:4662 +name: thalamic disease +xref: MSH:D013786 +xref: NCI:C85186 +xref: UMLS_CUI:C0039726 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:4664 +name: filamentary keratitis +synonym: "Filamentary keratitis (disorder)" EXACT [SNOMEDCT_2005_07_31:51286002] +xref: ICD10CM:H16.12 +xref: ICD9CM:370.23 +xref: SNOMEDCT_US_2015_03_01:51286002 +xref: UMLS_CUI:C0155077 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:4665 +name: superficial keratitis without conjunctivitis +is_obsolete: true + +[Term] +id: DOID:4667 +name: kyphosis +def: "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.mayoclinic.com/health/kyphosis/DS00681, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001240.htm] +synonym: "Kyphosis deformity of spine" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4668 +name: congenital kyphosis +def: "A kyphosis that results_in abnormal formation located_in body of vertebra." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.posna.org/education/StudyGuide/congenitalKyphosis.asp, urlXX:http\://www.wheelessonline.com/ortho/congenital_kyphosis] +is_obsolete: true + +[Term] +id: DOID:467 +name: venous hemangioma +synonym: "Venous hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:403968005] +synonym: "Venous hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:56468002] +xref: NCI:C4296 +xref: SNOMEDCT_US_2015_03_01:403968005 +xref: SNOMEDCT_US_2015_03_01:56468002 +xref: UMLS_CUI:C0334532 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4671 +name: freemartinism +xref: MSH:D005611 +xref: UMLS_CUI:C0016697 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:4674 +name: androgen insensitivity syndrome +alt_id: DOID:4672 +def: "A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup." [url:http\://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/, url:http\://www.omim.org/entry/300068?search=300068&highlight=300068] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Androgen resistance syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:12313004] +synonym: "Androgen-Insensitivity Syndrome" EXACT [] +synonym: "Feminisation - testicular" EXACT [SNOMEDCT_2005_07_31:154713003, SNOMEDCT_2005_07_31:267486007] +synonym: "Goldberg - Maxwell syndrome" EXACT [SNOMEDCT_2005_07_31:190562003] +synonym: "Goldberg-Maxwell syndrome" EXACT [SNOMEDCT_2005_07_31:237802009] +synonym: "testicular feminization" EXACT [CSP2005:2586-8897] +synonym: "testicular feminization (disorder)" EXACT [SNOMEDCT_2005_07_31:52832001] +synonym: "testicular Feminization syndrome" EXACT [MTH:NOCODE, NCI2004_11_17:C27226] +xref: ICD10CM:E34.5 +xref: ICD10CM:E34.50 +xref: ICD10CM:E34.51 +xref: ICD9CM:259.5 +xref: ICD9CM:259.51 +xref: MSH:D013734 +xref: NCI:C27226 +xref: OMIM:300068 +xref: SNOMEDCT_US_2015_03_01:12313004 +xref: SNOMEDCT_US_2015_03_01:154713003 +xref: SNOMEDCT_US_2015_03_01:190562003 +xref: SNOMEDCT_US_2015_03_01:237802009 +xref: SNOMEDCT_US_2015_03_01:267486007 +xref: SNOMEDCT_US_2015_03_01:368851000119102 +xref: SNOMEDCT_US_2015_03_01:52832001 +xref: UMLS_CUI:C0039585 +xref: UMLS_CUI:C0936016 +is_a: DOID:1923 ! sex differentiation disease + +[Term] +id: DOID:4675 +name: uremic neuropathy +synonym: "Uremic Neuropathy" EXACT [NCI2004_11_17:C27055] +synonym: "Uremic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:11659006] +xref: NCI:C27055 +xref: SNOMEDCT_US_2015_03_01:11659006 +xref: UMLS_CUI:C0268708 +is_a: DOID:4676 ! uremia + +[Term] +id: DOID:4676 +name: uremia +synonym: "UREMIA OF renal ORIGIN" EXACT [MTH:NOCODE] +xref: ICD10CM:N19 +xref: MSH:D014511 +xref: SNOMEDCT_US_2015_03_01:197656003 +xref: SNOMEDCT_US_2015_03_01:266616000 +xref: SNOMEDCT_US_2015_03_01:44730006 +xref: UMLS_CUI:C0041948 +is_a: DOID:1074 ! kidney failure + +[Term] +id: DOID:4677 +name: keratitis +xref: ICD10CM:H16 +xref: ICD10CM:H16.9 +xref: ICD9CM:370 +xref: ICD9CM:370.9 +xref: MSH:D007634 +xref: NCI:C26805 +xref: SNOMEDCT_US_2015_03_01:155151002 +xref: SNOMEDCT_US_2015_03_01:155155006 +xref: SNOMEDCT_US_2015_03_01:193757003 +xref: SNOMEDCT_US_2015_03_01:193793001 +xref: SNOMEDCT_US_2015_03_01:267730006 +xref: SNOMEDCT_US_2015_03_01:5888003 +xref: UMLS_CUI:C0022568 +is_a: DOID:10124 ! corneal disease + +[Term] +id: DOID:4678 +name: thymus mucoepidermoid carcinoma +synonym: "Mucoepidermoid carcinoma of the Thymus" EXACT [NCI2004_11_17:C6457] +xref: NCI:C6457 +xref: UMLS_CUI:C1334814 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:4679 +name: breast mucoepidermoid carcinoma +synonym: "mucoepidermoid carcinoma of breast" RELATED [] +synonym: "Mucoepidermoid carcinoma of the breast" EXACT [NCI2004_11_17:C5166] +xref: NCI:C5166 +xref: UMLS_CUI:C1334813 +is_a: DOID:4680 ! breast metaplastic carcinoma + +[Term] +id: DOID:468 +name: intramuscular hemangioma +synonym: "Intramuscular Angioma" EXACT [NCI2004_11_17:C3699] +synonym: "Intramuscular hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:54249004] +xref: MSH:D006391 +xref: NCI:C3699 +xref: SNOMEDCT_US_2015_03_01:54249004 +xref: UMLS_CUI:C0205789 +is_a: DOID:469 ! deep angioma + +[Term] +id: DOID:4680 +name: breast metaplastic carcinoma +synonym: "metaplastic carcinoma of breast" RELATED [] +synonym: "Metaplastic carcinoma of the breast" EXACT [NCI2004_11_17:C5164] +xref: NCI:C5164 +xref: UMLS_CUI:C1334708 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:4681 +name: bile duct mucoepidermoid carcinoma +synonym: "Mucoepidermoid carcinoma of the bile duct" EXACT [NCI2004_11_17:C5862] +xref: NCI:C5862 +xref: UMLS_CUI:C1332552 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:4682 +name: extrahepatic bile duct carcinoma +synonym: "carcinoma of extrahepatic bile duct (disorder)" EXACT [SNOMEDCT_2005_07_31:372101000] +synonym: "extrahepatic bile duct cancer" EXACT [NCI2004_11_17:C3860] +xref: NCI:C3860 +xref: SNOMEDCT_US_2015_03_01:254603004 +xref: SNOMEDCT_US_2015_03_01:269551004 +xref: SNOMEDCT_US_2015_03_01:372101000 +xref: SNOMEDCT_US_2015_03_01:93790004 +xref: UMLS_CUI:C0238019 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:4683 +name: cutaneous mucoepidermoid carcinoma +synonym: "Mucoepidermoid carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254713002] +synonym: "Mucoepidermoid skin carcinoma" EXACT [NCI2004_11_17:C4472] +xref: NCI:C4472 +xref: SNOMEDCT_US_2015_03_01:254713002 +xref: UMLS_CUI:C0346019 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:4684 +name: skin appendage carcinoma +synonym: "carcinoma of adnexa" EXACT [NCI2004_11_17:C3775] +synonym: "skin appendage carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189661009] +synonym: "skin appendage carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:64000002] +is_obsolete: true + +[Term] +id: DOID:4685 +name: lacrimal gland mucoepidermoid carcinoma +synonym: "Mucoepidermoid carcinoma of the lacrimal gland" EXACT [NCI2004_11_17:C6091] +xref: NCI:C6091 +xref: UMLS_CUI:C1334359 +is_a: DOID:293 ! lacrimal gland carcinoma + +[Term] +id: DOID:4686 +name: mucoepidermoid esophageal carcinoma +synonym: "Mucoepidermoid carcinoma of the esophagus" EXACT [NCI2004_11_17:C5343] +xref: NCI:C5343 +xref: UMLS_CUI:C1333461 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:4687 +name: mucoepidermoid thyroid carcinoma +xref: NCI:C38762 +xref: UMLS_CUI:C1513721 +is_a: DOID:3963 ! thyroid carcinoma + +[Term] +id: DOID:4688 +name: laryngeal mucoepidermoid carcinoma +synonym: "Mucoepidermoid carcinoma of Larynx" EXACT [NCI2004_11_17:C9463] +xref: NCI:C9463 +xref: UMLS_CUI:C1334373 +is_a: DOID:2600 ! laryngeal carcinoma + +[Term] +id: DOID:469 +name: deep angioma +xref: NCI:C6555 +xref: UMLS_CUI:C1333265 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4690 +name: childhood mediastinal neurogenic tumor +synonym: "pediatric neurogenic tumor of mediastinum" EXACT [NCI2004_11_17:C5429] +xref: NCI:C5429 +xref: UMLS_CUI:C1332981 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm + +[Term] +id: DOID:4691 +name: malignant mediastinal neurogenic neoplasm +def: "A mediastinal cancer that has_material_basis_in neural cells." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11154721] +synonym: "neurogenic tumor of mediastinum" EXACT [NCI2004_11_17:C6624] +xref: NCI:C6624 +xref: UMLS_CUI:C1334672 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:4692 +name: endophthalmitis +def: "A globe disease that is characterized by inflammation of the inside of the eye." [url:\://www.merck.com/mmhe/sec20/ch234/ch234i.html, url:http\://en.wikipedia.org/wiki/Endophthalmitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis] +xref: MSH:D009877 +xref: NCI:C34586 +xref: SNOMEDCT_US_2015_03_01:123052006 +xref: SNOMEDCT_US_2015_03_01:128295000 +xref: SNOMEDCT_US_2015_03_01:1847009 +xref: SNOMEDCT_US_2015_03_01:82255004 +xref: UMLS_CUI:C0014236 +is_a: DOID:1242 ! globe disease + +[Term] +id: DOID:4693 +name: nerve plexus neoplasm +synonym: "neural Plexus tumors" EXACT [NCI2004_11_17:C5822] +xref: NCI:C5822 +xref: UMLS_CUI:C1334945 +is_a: DOID:1192 ! peripheral nervous system neoplasm + +[Term] +id: DOID:4694 +name: malignant peripheral nerve neoplasm +synonym: "malignant tumor of peripheral nerve (disorder)" EXACT [SNOMEDCT_2005_07_31:254986007] +synonym: "malignant tumor of PNS" EXACT [NCI2004_11_17:C4961] +is_obsolete: true + +[Term] +id: DOID:4696 +name: intraneural perineurioma +synonym: "Intraneural Perineurioma" EXACT [NCI2004_11_17:C6911] +xref: NCI:C6911 +xref: SNOMEDCT_US_2015_03_01:128795001 +xref: UMLS_CUI:C1370658 +is_a: DOID:4697 ! perineurioma + +[Term] +id: DOID:4697 +name: perineurioma +alt_id: DOID:8371 +synonym: "perineurioma (disorder)" EXACT [SNOMEDCT_2005_07_31:404036006] +synonym: "perineurioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128795001] +synonym: "soft tissue Perineurioma" EXACT [NCI2004_11_17:C6912] +synonym: "soft tissue perineurioma" EXACT [] +xref: MSH:D018317 +xref: NCI:C4973 +xref: NCI:C6912 +xref: SNOMEDCT_US_2015_03_01:128795001 +xref: SNOMEDCT_US_2015_03_01:404036006 +xref: UMLS_CUI:C0751691 +xref: UMLS_CUI:C1370657 +is_a: DOID:3193 ! peripheral nerve sheath neoplasm + +[Term] +id: DOID:4698 +name: nerve root neoplasm +synonym: "tumor of nerve Root" EXACT [NCI2004_11_17:C5119] +xref: NCI:C5119 +xref: UMLS_CUI:C1334946 +is_a: DOID:1192 ! peripheral nervous system neoplasm + +[Term] +id: DOID:4699 +name: epicardium cancer +alt_id: DOID:14537 +synonym: "Epicardial tumor" EXACT [NCI2004_11_17:C5347] +synonym: "malignant Epicardial tumor" EXACT [NCI2004_11_17:C4568] +synonym: "malignant neoplasm of epicardium" EXACT [] +xref: NCI2009_04D:C5347 +xref: NCI:C5347 +xref: SNOMEDCT_US_2015_03_01:126733004 +xref: SNOMEDCT_US_2015_03_01:93782004 +xref: UMLS_CUI:C0346610 +xref: UMLS_CUI:C1290403 +is_a: DOID:116 ! pericardium cancer + +[Term] +id: DOID:47 +name: prostate disease +xref: ICD10CM:N42.9 +xref: ICD9CM:602.9 +xref: MSH:D011469 +xref: NCI:C26865 +xref: SNOMEDCT_US_2015_03_01:197979000 +xref: SNOMEDCT_US_2015_03_01:30281009 +xref: UMLS_CUI:C0033575 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:470 +name: verrucous keratotic hemangioma +synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:20985003] +xref: NCI:C4299 +xref: SNOMEDCT_US_2015_03_01:20985003 +xref: UMLS_CUI:C0334540 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:4700 +name: bathing trunk nevus +synonym: "Congenital giant pigmented nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254815002] +synonym: "Giant Pigmented nevus of the skin" EXACT [NCI2004_11_17:C4234] +synonym: "Intermediate and giant congenital naevus" EXACT [SNOMEDCT_2005_07_31:10291008] +is_obsolete: true + +[Term] +id: DOID:4702 +name: mongolian spot +synonym: "Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS]" EXACT [SNOMEDCT_2005_07_31:157017000] +synonym: "Integument anomalies: [ichthyosis congenita] or [Darier's] or [keratosis follicularis] or [Meige's] or [Milroy's] or [Mongolian spots] or [pseudoxanthoma elasticum] or [congenital NOS]" EXACT [SNOMEDCT_2005_07_31:268355000] +synonym: "Mongolian Macula" EXACT [NCI2004_11_17:C3945] +synonym: "Mongolian spot (disorder)" EXACT [SNOMEDCT_2005_07_31:40467008] +xref: MSH:D049328 +xref: NCI:C3945 +xref: SNOMEDCT_US_2015_03_01:157017000 +xref: SNOMEDCT_US_2015_03_01:268355000 +xref: SNOMEDCT_US_2015_03_01:40467008 +xref: UMLS_CUI:C0265985 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:4705 +name: childhood brain tumor +synonym: "pediatric neoplasm of brain" EXACT [NCI2004_11_17:C7703] +is_obsolete: true + +[Term] +id: DOID:4706 +name: infratentorial cancer +alt_id: DOID:4789 +def: "A brain cancer that is located_in the infratentorial region." [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli, url:http\://www.ncbi.nlm.nih.gov/mesh/68015192] +synonym: "brain neoplasm, Infratentorial" EXACT [NCI2004_11_17:C3139] +synonym: "malignant Infratentorial tumors" EXACT [NCI2004_11_17:C4966] +xref: ICD10CM:C71.7 +xref: MSH:D015192 +xref: NCI:C3139 +xref: NCI:C4966 +xref: UMLS_CUI:C0021432 +xref: UMLS_CUI:C0751593 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:4707 +name: cervicomedullary junction neoplasm +synonym: "tumor of the Cervicomedullary Junction" EXACT [NCI2004_11_17:C5423] +xref: NCI:C5423 +xref: UMLS_CUI:C1332923 +is_a: DOID:4706 ! infratentorial cancer + +[Term] +id: DOID:4708 +name: foramen magnum meningioma +synonym: "meningioma of the Foramen Magnum" EXACT [NCI2004_11_17:C5280] +xref: NCI:C5280 +xref: UMLS_CUI:C1333630 +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:471 +name: skin hemangioma +synonym: "Angioma of the skin" EXACT [NCI2004_11_17:C4905] +synonym: "Angiomatous naevus of skin" EXACT [SNOMEDCT_2005_07_31:254773009] +synonym: "hemangioma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:93471006] +xref: NCI:C4905 +xref: SNOMEDCT_US_2015_03_01:189195009 +xref: SNOMEDCT_US_2015_03_01:254773009 +xref: SNOMEDCT_US_2015_03_01:93471006 +xref: UMLS_CUI:C0687140 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:4711 +name: krebs 2 carcinoma +is_obsolete: true + +[Term] +id: DOID:4712 +name: gastric mesenchymal neoplasm +synonym: "mesenchymal tumor of stomach" EXACT [NCI2004_11_17:C5487] +is_obsolete: true + +[Term] +id: DOID:4714 +name: obstetrical pelvic hematoma +alt_id: DOID:12829 +synonym: "postpartum pelvic hematoma" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4715 +name: gastric neuroendocrine neoplasm +synonym: "neuroendocrine tumor of the stomach" EXACT [NCI2004_11_17:C5696] +xref: NCI:C5696 +xref: UMLS_CUI:C1333783 +is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor + +[Term] +id: DOID:4716 +name: malignant gastric germ cell tumor +synonym: "germ cell tumor of the stomach" EXACT [NCI2004_11_17:C6448] +xref: NCI:C6448 +xref: UMLS_CUI:C1333769 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:4717 +name: extragonadal germ cell cancer +alt_id: DOID:5839 +def: "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary." [url:http\://tcrc.acor.org/egc.html, url:http\://www.cancer.gov/cancertopics/types/extragonadal-germ-cell] +synonym: "extragonadal germ cell malignant tumor" EXACT [] +synonym: "neoplasm of Extragonadal germ cell" EXACT [NCI2004_11_17:C3918] +synonym: "tumor of extragonadal germ cell" RELATED [] +xref: NCI:C3918 +xref: NCI:C8881 +xref: UMLS_CUI:C0262963 +xref: UMLS_CUI:C1334581 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:4719 +name: bone giant cell sarcoma +def: "A malignant giant cell tumor that is composed_of multinucleated giant cells." [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] +synonym: "Giant cell sarcoma of the bone" EXACT [NCI2004_11_17:C4304] +synonym: "Giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:10069009] +xref: NCI:C4304 +xref: SNOMEDCT_US_2015_03_01:10069009 +xref: UMLS_CUI:C0334552 +is_a: DOID:2705 ! malignant giant cell tumor + +[Term] +id: DOID:472 +name: subglottic angioma +synonym: "hemangioma of the Subglottis" EXACT [NCI2004_11_17:C6026] +xref: NCI:C6026 +xref: UMLS_CUI:C1336518 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4723 +name: intracranial hypotension +xref: MSH:D019585 +xref: SNOMEDCT_US_2015_03_01:433691000124104 +xref: UMLS_CUI:C0524812 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:4724 +name: brain edema +synonym: "intracranial swelling" EXACT [SNOMEDCT_2005_07_31:85974009] +synonym: "intracranial swelling" EXACT [SNOMEDCT_2005_07_31:2032001] +synonym: "wet brain" EXACT [CSP2005:0485-0998] +xref: MSH:D001929 +xref: SNOMEDCT_US_2015_03_01:2032001 +xref: SNOMEDCT_US_2015_03_01:85974009 +xref: UMLS_CUI:C1527311 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:4725 +name: neck neoplasm +synonym: "neck neoplasm" EXACT [CSP2005:2005-4325] +synonym: "neck neoplasm (Including All Pharyngeal Related neoplasm)" EXACT [NCI2004_11_17:C3260] +synonym: "neoplasm of neck (disorder)" EXACT [SNOMEDCT_2005_07_31:126635000] +is_obsolete: true + +[Term] +id: DOID:4726 +name: Anterior synechiae +synonym: "Anterior synechiae (disorder)" EXACT [SNOMEDCT_2005_07_31:70992005] +synonym: "Anterior synechiae of iris" EXACT [ICD9CM_2006:364.72] +is_obsolete: true + +[Term] +id: DOID:4727 +name: adhesions of iris +synonym: "adhesions of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:78778007] +synonym: "adhesions of iris, unspecified" EXACT [ICD9CM_2006:364.70] +synonym: "Synechia (iris)" EXACT [SNOMEDCT_2005_07_31:267720002] +synonym: "Synechiae NOS" EXACT [MTHICD9_2006:364.70] +synonym: "Unspecified adhesions of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:193518008] +is_obsolete: true + +[Term] +id: DOID:4730 +name: vasomotor rhinitis +def: "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." [url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis] +synonym: "Vasomotor Rhinitis" EXACT [NCI2004_11_17:C34988] +synonym: "Vasomotor rhinitis" EXACT [SNOMEDCT_2005_07_31:155537009] +synonym: "Vasomotor rhinitis" EXACT [SNOMEDCT_2005_07_31:266386004] +synonym: "Vasomotor rhinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:8229003] +xref: ICD10CM:J30.0 +xref: MSH:D012223 +xref: NCI:C34988 +xref: SNOMEDCT_US_2015_03_01:155537009 +xref: SNOMEDCT_US_2015_03_01:266386004 +xref: SNOMEDCT_US_2015_03_01:8229003 +xref: UMLS_CUI:C0035460 +is_a: DOID:4483 ! rhinitis + +[Term] +id: DOID:4731 +name: atrophic rhinitis +def: "A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." [url:http\://en.wikipedia.org/wiki/atrophic_rhinitis, url:http\://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf] +synonym: "atrophic rhinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:28111002] +synonym: "dry rhinitis" EXACT [] +synonym: "Ozaena" EXACT [] +synonym: "ozena" EXACT [] +synonym: "rhinitis sicca" RELATED [] +synonym: "Rhinitis, atrophic" EXACT [MTHICD9_2006:472.0] +xref: MSH:D012222 +xref: SNOMEDCT_US_2015_03_01:28111002 +xref: UMLS_CUI:C0035459 +is_a: DOID:4483 ! rhinitis + +[Term] +id: DOID:4734 +name: calciphylaxis +synonym: "Calciphylaxis (disorder)" EXACT [SNOMEDCT_2005_07_31:237900002] +xref: MSH:D002115 +xref: NCI:C84607 +xref: SNOMEDCT_US_2015_03_01:237900002 +xref: UMLS_CUI:C0006666 +is_a: DOID:182 ! calcinosis + +[Term] +id: DOID:4737 +name: somatoform disorder +alt_id: DOID:10133 +alt_id: DOID:144 +def: "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate." [url:http\://allpsych.com/disorders/somatoform/index.html, url:http\://en.wikipedia.org/wiki/Somatoform_disorder] +synonym: "physiological malfunction arising from mental factor" EXACT [] +synonym: "psychophysiologic disorder" EXACT [] +synonym: "psychosomatic disorder" EXACT [CSP2005:2482-7019] +xref: ICD10CM:F45 +xref: ICD10CM:F45.0 +xref: ICD10CM:F45.9 +xref: ICD9CM:300.8 +xref: ICD9CM:300.81 +xref: ICD9CM:306.8 +xref: MSH:D013001 +xref: NCI:C34956 +xref: SNOMEDCT_US_2015_03_01:154892001 +xref: SNOMEDCT_US_2015_03_01:191743005 +xref: SNOMEDCT_US_2015_03_01:192035008 +xref: SNOMEDCT_US_2015_03_01:192430009 +xref: SNOMEDCT_US_2015_03_01:192431008 +xref: SNOMEDCT_US_2015_03_01:192437007 +xref: SNOMEDCT_US_2015_03_01:31297008 +xref: SNOMEDCT_US_2015_03_01:397795007 +xref: SNOMEDCT_US_2015_03_01:397826007 +xref: SNOMEDCT_US_2015_03_01:397923000 +xref: SNOMEDCT_US_2015_03_01:60368009 +xref: SNOMEDCT_US_2015_03_01:9514005 +xref: UMLS_CUI:C0029824 +xref: UMLS_CUI:C0037650 +xref: UMLS_CUI:C0520482 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:4738 +name: Iris or ciliary body disorder +is_obsolete: true + +[Term] +id: DOID:4739 +name: testicular Brenner tumor +xref: NCI:C39953 +xref: UMLS_CUI:C1515281 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:474 +name: histiocytoid hemangioma +synonym: "Angiolymphoid hyperplasia with eosinophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:125574005] +synonym: "epithelioid haemangioma" EXACT [SNOMEDCT_2005_07_31:189869009] +synonym: "epithelioid hemangioma" EXACT [NCI2004_11_17:C4298] +synonym: "epithelioid hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:33929001] +xref: MSH:D006391 +xref: NCI:C4298 +xref: SNOMEDCT_US_2015_03_01:125574005 +xref: SNOMEDCT_US_2015_03_01:189869009 +xref: SNOMEDCT_US_2015_03_01:189870005 +xref: SNOMEDCT_US_2015_03_01:253054009 +xref: SNOMEDCT_US_2015_03_01:33929001 +xref: SNOMEDCT_US_2015_03_01:69159005 +xref: UMLS_CUI:C0205788 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4742 +name: mixed embryonal carcinoma and teratoma of the testis +synonym: "mixed Embryonal carcinoma and teratoma of testis" EXACT [NCI2004_11_17:C6351] +is_obsolete: true + +[Term] +id: DOID:4743 +name: mixed testicular germ cell tumor +def: "A mixed germ cell cancer that is located_in the testis." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] +subset: DO_cancer_slim +synonym: "mixed germ cell tumor of testis" EXACT [NCI2004_11_17:C6347] +xref: NCI:C6347 +xref: UMLS_CUI:C1336720 +is_a: DOID:5556 ! testicular malignant germ cell cancer + +[Term] +id: DOID:4744 +name: placenta accreta +def: "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." [url:http\://en.wikipedia.org/wiki/Placenta_accreta] +xref: ICD10CM:O43.21 +xref: MSH:D010921 +xref: NCI:C26856 +xref: SNOMEDCT_US_2015_03_01:70129008 +xref: UMLS_CUI:C0032044 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:4746 +name: olfaction disorder +synonym: "disorder of smell (disorder)" EXACT [SNOMEDCT_2005_07_31:275462005] +is_obsolete: true + +[Term] +id: DOID:4748 +name: childhood supratentorial neoplasm +synonym: "pediatric Supratentorial tumor" EXACT [NCI2004_11_17:C5960] +is_obsolete: true + +[Term] +id: DOID:4749 +name: middle cranial fossa meningioma +synonym: "meningioma of the middle Cranial Fossa" EXACT [NCI2004_11_17:C5586] +xref: NCI:C5586 +xref: UMLS_CUI:C1334757 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4751 +name: striatonigral degeneration +comment: OMIM mapping confirmed by DO. [LS]. +xref: ICD10CM:G23.2 +xref: MSH:D020955 +xref: OMIM:271930 +xref: OMIM:500003 +xref: OMIM:609161 +xref: SNOMEDCT_US_2015_03_01:29618004 +xref: UMLS_CUI:C0270733 +is_a: DOID:4752 ! multiple system atrophy + +[Term] +id: DOID:4752 +name: multiple system atrophy +alt_id: DOID:11510 +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Multiple system atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:230297002] +synonym: "Shy-Drager syndrome" EXACT [] +xref: MSH:D012791 +xref: MSH:D019578 +xref: NCI:C84909 +xref: NCI:C85066 +xref: OMIM:146500 +xref: SNOMEDCT_US_2015_03_01:16576004 +xref: SNOMEDCT_US_2015_03_01:230297002 +xref: UMLS_CUI:C0037019 +xref: UMLS_CUI:C0393571 +is_a: DOID:0050890 ! synucleinopathy + +[Term] +id: DOID:4754 +name: Dictyocaulus infectious disease +def: "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." [url:http\://en.wikipedia.org/wiki/Dictyocaulus] +synonym: "Infection by Dictyocaulus (disorder)" EXACT [SNOMEDCT_2005_07_31:28713008] +is_obsolete: true + +[Term] +id: DOID:4756 +name: testicular Leydig cell tumor +synonym: "testicular Leydig cell neoplasm" EXACT [NCI2004_11_17:C6356] +xref: NCI:C6356 +xref: UMLS_CUI:C0863027 +is_a: DOID:2696 ! Leydig cell tumor + +[Term] +id: DOID:4757 +name: sex cord-stromal neoplasm +synonym: "Sex Cord-Stromal tumor of testis" EXACT [NCI2004_11_17:C6358] +xref: NCI:C6358 +xref: SNOMEDCT_US_2015_03_01:702406000 +xref: UMLS_CUI:C3840076 +is_a: DOID:0050622 ! reproductive organ benign neoplasm + +[Term] +id: DOID:4758 +name: peripheral anterior synechiae +synonym: "Goniosynechiae" EXACT [SNOMEDCT_2005_07_31:193519000] +synonym: "Goniosynechiae" EXACT [ICD9CM_2006:364.73] +synonym: "Goniosynechiae (disorder)" EXACT [SNOMEDCT_2005_07_31:71902007] +synonym: "peripheral anterior synechiae (disorder)" EXACT [SNOMEDCT_2005_07_31:247034002] +is_obsolete: true + +[Term] +id: DOID:476 +name: breast hemangioma +synonym: "Angioma of the breast" EXACT [NCI2004_11_17:C5353] +synonym: "hemangioma of breast" EXACT [] +xref: NCI:C5353 +xref: UMLS_CUI:C0853715 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:4760 +name: malignant catarrh +def: "A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf] +synonym: "Gangrenous Coryza" EXACT [] +synonym: "malignant catarrhal fever" EXACT [] +synonym: "Snotsiekte" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4762 +name: vasculogenic impotence +xref: MSH:D018783 +xref: UMLS_CUI:C0243000 +is_a: DOID:1875 ! impotence + +[Term] +id: DOID:4765 +name: pulmonary blastoma +def: "An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children." [url:http\://www.cancer.gov/dictionary/?CdrID=446557] +synonym: "Blastoma of lung" EXACT [NCI2004_11_17:C3732] +xref: MSH:D018202 +xref: NCI:C3732 +xref: SNOMEDCT_US_2015_03_01:189815007 +xref: SNOMEDCT_US_2015_03_01:43149009 +xref: UMLS_CUI:C0206629 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:4766 +name: embryoma +def: "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells." [url:http\://en.wikipedia.org/wiki/Embryoma] +synonym: "Blastoma, NOS" EXACT [SNOMEDCT_2005_07_31:86049000] +xref: NCI:C8997 +xref: SNOMEDCT_US_2015_03_01:86049000 +xref: UMLS_CUI:C0936282 +is_a: DOID:688 ! embryonal cancer + +[Term] +id: DOID:4767 +name: classic pulmonary blastoma +xref: NCI:C36054 +xref: UMLS_CUI:C1332556 +is_a: DOID:4765 ! pulmonary blastoma + +[Term] +id: DOID:4768 +name: epithelial predominant pulmonary blastoma +xref: NCI:C36053 +xref: UMLS_CUI:C1333420 +is_a: DOID:4765 ! pulmonary blastoma + +[Term] +id: DOID:4769 +name: pleuropulmonary blastoma +def: "A pulmonary blastoma that derives_from the lung or pleural cavity." [url:http\://do-wiki.nubic.northwestern.edu/index.php/Relations_in_DO] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pleuropulmonary blastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128763002] +xref: MSH:C537516 +xref: NCI:C5669 +xref: OMIM:601200 +xref: SNOMEDCT_US_2015_03_01:128763002 +xref: SNOMEDCT_US_2015_03_01:707670009 +xref: UMLS_CUI:C1266144 +is_a: DOID:4765 ! pulmonary blastoma + +[Term] +id: DOID:4772 +name: mesoblastic nephroma +def: "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." [url:http\://en.wikipedia.org/wiki/Mesoblastic_nephroma] +synonym: "Mesoblastic Nephroma" EXACT [NCI2004_11_17:C3731] +synonym: "Mesoblastic nephroma (disorder)" EXACT [SNOMEDCT_2005_07_31:307604008] +synonym: "Mesoblastic nephroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:11793003] +xref: MSH:D018201 +xref: SNOMEDCT_US_2015_03_01:11793003 +xref: SNOMEDCT_US_2015_03_01:307604008 +xref: UMLS_CUI:C0206628 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:4773 +name: congenital mesoblastic nephroma +xref: MSH:D018201 +xref: NCI:C6569 +xref: UMLS_CUI:C1332965 +is_a: DOID:3675 ! childhood kidney neoplasm +is_a: DOID:4772 ! mesoblastic nephroma + +[Term] +id: DOID:4775 +name: feline acquired immunodeficiency syndrome +def: "A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system." [url:http\://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission, url:http\://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html] +is_obsolete: true + +[Term] +id: DOID:4776 +name: rapidly progressive glomerulonephritis +synonym: "Rapidly progressive Glomerulonephritis" EXACT [NCI2004_11_17:C35264] +synonym: "Rapidly progressive glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:236392004] +xref: ICD10CM:N01 +xref: NCI:C35264 +xref: SNOMEDCT_US_2015_03_01:236392004 +xref: SNOMEDCT_US_2015_03_01:45406000 +xref: UMLS_CUI:C0221239 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4777 +name: exudative glomerulonephritis +xref: NCI:C35706 +xref: UMLS_CUI:C0546345 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4778 +name: proliferative glomerulonephritis +synonym: "Proliferative Glomerulonephritis" EXACT [NCI2004_11_17:C35281] +xref: NCI:C35281 +xref: SNOMEDCT_US_2015_03_01:441815006 +xref: UMLS_CUI:C0235618 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4779 +name: focal embolic glomerulonephritis +xref: NCI:C35707 +xref: UMLS_CUI:C0238143 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:478 +name: breast vascular neoplasm +synonym: "vascular tumor of breast" EXACT [NCI2004_11_17:C5209] +is_obsolete: true + +[Term] +id: DOID:4780 +name: anti-basement membrane glomerulonephritis +xref: NCI:C35798 +xref: UMLS_CUI:C1332309 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4781 +name: diffuse glomerulonephritis +xref: NCI:C35799 +xref: UMLS_CUI:C0859036 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4782 +name: subacute glomerulonephritis +synonym: "Subacute Glomerulonephritis" EXACT [NCI2004_11_17:C35801] +synonym: "Subacute glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:123609007] +xref: NCI:C35801 +xref: SNOMEDCT_US_2015_03_01:123609007 +xref: UMLS_CUI:C1263744 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4783 +name: mesangial proliferative glomerulonephritis +synonym: "Mesangial proliferative glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:35546006] +xref: NCI:C35445 +xref: SNOMEDCT_US_2015_03_01:35546006 +xref: UMLS_CUI:C0221238 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4784 +name: immune-complex glomerulonephritis +synonym: "Immune Complex Glomerulonephritis" EXACT [NCI2004_11_17:C35800] +synonym: "Immune-complex glomerulonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:123752003] +xref: NCI:C35800 +xref: SNOMEDCT_US_2015_03_01:123752003 +xref: UMLS_CUI:C0744421 +is_a: DOID:2921 ! glomerulonephritis + +[Term] +id: DOID:4786 +name: primitive neuroectodermal tumor with Leptomeningeal Spread +is_obsolete: true + +[Term] +id: DOID:4787 +name: cerebellopontine angle primitive neuroectodermal +synonym: "Cerebellopontine Angle PNET" EXACT [NCI2004_11_17:C5436] +xref: NCI:C5436 +xref: UMLS_CUI:C1332904 +is_a: DOID:3200 ! cerebellopontine angle tumor + +[Term] +id: DOID:4788 +name: intracranial primitive neuroectodermal tumor +synonym: "intracranial PNET" EXACT [NCI2004_11_17:C5817] +xref: NCI:C5817 +xref: UMLS_CUI:C1334246 +is_a: DOID:0060103 ! central nervous system primitive neuroectodermal neoplasm + +[Term] +id: DOID:479 +name: angiokeratoma +alt_id: DOID:665 +synonym: "Angiokeratoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26810009] +synonym: "Angiokeratoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254788004] +synonym: "Cutaneous Angiokeratoma" EXACT [NCI2004_11_17:C4488] +synonym: "skin angiokeratoma " EXACT [] +xref: CSP:2007-0683 +xref: MSH:D000794 +xref: NCI:C2874 +xref: NCI:C4488 +xref: SNOMEDCT_US_2015_03_01:254788004 +xref: SNOMEDCT_US_2015_03_01:26810009 +xref: UMLS_CUI:C0002985 +xref: UMLS_CUI:C0346075 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:4790 +name: medulloepithelioma +synonym: "Diktyoma, malignant" EXACT [SNOMEDCT_2005_07_31:39005004] +synonym: "Medulloepithelioma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189932005] +synonym: "Medulloepithelioma, central nervous system" EXACT [NCI2004_11_17:C4327] +xref: MSH:D018242 +xref: NCI:C4327 +xref: NCI:C66808 +xref: SNOMEDCT_US_2015_03_01:189932005 +xref: SNOMEDCT_US_2015_03_01:39005004 +xref: UMLS_CUI:C0334596 +is_a: DOID:0060103 ! central nervous system primitive neuroectodermal neoplasm + +[Term] +id: DOID:4791 +name: supratentorial primitive neuroectodermal tumor +synonym: "Supratentorial PNET" EXACT [SNOMEDCT_2005_07_31:39781001] +xref: NCI:C6968 +xref: SNOMEDCT_US_2015_03_01:39781001 +xref: SNOMEDCT_US_2015_03_01:699318007 +xref: UMLS_CUI:C1336538 +is_a: DOID:1659 ! supratentorial cancer + +[Term] +id: DOID:4794 +name: ependymoblastoma +xref: MSH:D018242 +xref: NCI:C4915 +xref: SNOMEDCT_US_2015_03_01:21589007 +xref: SNOMEDCT_US_2015_03_01:253070006 +xref: UMLS_CUI:C0700367 +is_a: DOID:0060103 ! central nervous system primitive neuroectodermal neoplasm + +[Term] +id: DOID:4795 +name: Tay-Sachs disease AB variant +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Tay-Sachs disease, variant AB (disorder)" EXACT [SNOMEDCT_2005_07_31:71253000] +xref: MSH:D049290 +xref: OMIM:272750 +xref: SNOMEDCT_US_2015_03_01:71253000 +xref: UMLS_CUI:C0268275 +is_a: DOID:3321 ! gangliosidosis GM2 + +[Term] +id: DOID:4796 +name: space motion sickness +xref: MSH:D018489 +xref: SNOMEDCT_US_2015_03_01:21162009 +xref: UMLS_CUI:C0242700 +is_a: DOID:2951 ! motion sickness + +[Term] +id: DOID:4797 +name: SM-AHNMD +synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT [SNOMEDCT_2005_07_31:397015000] +synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397357000] +xref: NCI:C9284 +xref: SNOMEDCT_US_2015_03_01:397015000 +xref: SNOMEDCT_US_2015_03_01:397357000 +xref: UMLS_CUI:C1301365 +is_a: DOID:349 ! systemic mastocytosis + +[Term] +id: DOID:4798 +name: aggressive systemic mastocytosis +synonym: "Aggressive systemic mastocytosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397358005] +synonym: "ASM" EXACT [NCI2004_11_17:C9285] +synonym: "Lymphadenopathic mastocytosis with eosinophilia" EXACT [SNOMEDCT_2005_07_31:397008008] +xref: ICD10CM:C96.2 +xref: MSH:D034721 +xref: NCI:C9285 +xref: SNOMEDCT_US_2015_03_01:397008008 +xref: SNOMEDCT_US_2015_03_01:397358005 +xref: UMLS_CUI:C1112486 +is_a: DOID:349 ! systemic mastocytosis + +[Term] +id: DOID:4799 +name: AIDS-related idiopathic thrombocytopenic purpura +is_obsolete: true + +[Term] +id: DOID:48 +name: male reproductive system disease +def: "A reproductive system disease that affects male reproductive organs." [url:https\://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/] +xref: ICD10CM:N50.9 +xref: ICD9CM:600-608.99 +xref: ICD9CM:608.9 +xref: MSH:D005832 +xref: SNOMEDCT_US_2015_03_01:155905004 +xref: SNOMEDCT_US_2015_03_01:155933004 +xref: SNOMEDCT_US_2015_03_01:155945008 +xref: SNOMEDCT_US_2015_03_01:198089001 +xref: SNOMEDCT_US_2015_03_01:198553004 +xref: SNOMEDCT_US_2015_03_01:64557000 +xref: UMLS_CUI:C0017412 +is_a: DOID:15 ! reproductive system disease + +[Term] +id: DOID:480 +name: movement disease +xref: MSH:D009069 +xref: SNOMEDCT_US_2015_03_01:60342002 +xref: UMLS_CUI:C0026650 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:4800 +name: iris vascular disorder +is_obsolete: true + +[Term] +id: DOID:4804 +name: border disease +def: "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." [url:http\://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf] +synonym: "hairy shaker disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4807 +name: swine vesicular disease +def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness." [url:http\://en.wikipedia.org/wiki/Swine_vesicular_disease] +is_obsolete: true + +[Term] +id: DOID:4808 +name: Enterovirus infectious disease +def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." [url:http\://www.idph.state.il.us/public/hb/hbentero.htm] +is_obsolete: true + +[Term] +id: DOID:4809 +name: enzootic porcine encephalomyelitis +def: "A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf] +synonym: "Poliomyelitis Suum" EXACT [] +synonym: "Porcine polioencephalomyelitis" EXACT [] +synonym: "Talfan disease" EXACT [] +synonym: "Teschen disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:481 +name: central nervous system hereditary degenerative disease +xref: SNOMEDCT_US_2015_03_01:192838009 +xref: SNOMEDCT_US_2015_03_01:192842007 +xref: UMLS_CUI:C0014887 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:4810 +name: cerebrotendinous xanthomatosis +def: "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma." [url:http\://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis, url:http\://rarediseasesnetwork.epi.usf.edu/stair/ctx/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1409/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cholestanol storage disease (disorder)" EXACT [SNOMEDCT_2005_07_31:63246000] +xref: MSH:D019294 +xref: NCI:C84628 +xref: OMIM:213700 +xref: SNOMEDCT_US_2015_03_01:63246000 +xref: UMLS_CUI:C0238052 +is_a: DOID:3345 ! xanthomatosis + +[Term] +id: DOID:4812 +name: adult brainstem gliosarcoma +synonym: "adult brain stem Gliosarcoma" EXACT [NCI2004_11_17:C9370] +xref: NCI:C9370 +xref: UMLS_CUI:C1377914 +is_a: DOID:4813 ! adult brain stem glioma + +[Term] +id: DOID:4813 +name: adult brain stem glioma +synonym: "adult Brainstem Neuroglial tumor" EXACT [NCI2004_11_17:C9091] +xref: NCI:C9091 +xref: UMLS_CUI:C0278873 +is_a: DOID:4202 ! brain stem glioma + +[Term] +id: DOID:4814 +name: ganglioneuroma of the retroperitoneum +synonym: "Ganglioneuroma of Retroperitoneum" EXACT [NCI2004_11_17:C5427] +is_obsolete: true + +[Term] +id: DOID:4816 +name: maturing ganglioneuroma +is_obsolete: true + +[Term] +id: DOID:4817 +name: ganglioneuroma +xref: NCI:C42065 +xref: UMLS_CUI:C1513025 +is_a: DOID:2621 ! autonomic nervous system neoplasm + +[Term] +id: DOID:4818 +name: lung occult non-small cell carcinoma +synonym: "occult non-small cell carcinoma of lung" RELATED [] +synonym: "Occult Non-small cell carcinoma of the lung" EXACT [NCI2004_11_17:C9038] +is_obsolete: true + +[Term] +id: DOID:4819 +name: lung occult carcinoma +synonym: "occult carcinoma of lung" RELATED [] +synonym: "Occult carcinoma of the lung" EXACT [NCI2004_11_17:C5641] +is_obsolete: true + +[Term] +id: DOID:482 +name: hemangioma of peripheral nerve +xref: NCI:C27507 +xref: UMLS_CUI:C1333956 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4828 +name: metastatic lung carcinoma +synonym: "Unspecified stage IV carcinoma of lung" EXACT [NCI2004_11_17:C8774] +is_obsolete: true + +[Term] +id: DOID:4829 +name: adenosquamous cell lung carcinoma +synonym: "Adenosquamous lung carcinoma" EXACT [NCI2004_11_17:C9133] +xref: NCI:C9133 +xref: UMLS_CUI:C0279557 +is_a: DOID:3908 ! non-small cell lung carcinoma + +[Term] +id: DOID:483 +name: cavernous hemangioma +synonym: "Cavernoma" EXACT [NCI2004_11_17:C3086] +synonym: "Cavernous haemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:416824008] +synonym: "Cavernous hemangioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:33377007] +xref: ICD10CM:D18.0 +xref: MSH:D006392 +xref: NCI:C3086 +xref: SNOMEDCT_US_2015_03_01:157014007 +xref: SNOMEDCT_US_2015_03_01:189192007 +xref: SNOMEDCT_US_2015_03_01:254781005 +xref: SNOMEDCT_US_2015_03_01:33377007 +xref: SNOMEDCT_US_2015_03_01:416824008 +xref: SNOMEDCT_US_2015_03_01:56975005 +xref: SNOMEDCT_US_2015_03_01:67668002 +xref: UMLS_CUI:C0018920 +is_a: DOID:484 ! vascular hemostatic disease + +[Term] +id: DOID:4830 +name: adenosquamous carcinoma +def: "A squamous cell carcinoma that contains squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/] +synonym: "Adenosquamous carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:59367005] +synonym: "Adenosquamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403902008] +synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [NCI2004_11_17:C3727] +xref: MSH:D018196 +xref: NCI:C3727 +xref: SNOMEDCT_US_2015_03_01:403902008 +xref: SNOMEDCT_US_2015_03_01:59367005 +xref: UMLS_CUI:C0206623 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:4831 +name: spleen mast cell malignancy +synonym: "malignant mast cell tumors involving spleen" EXACT [ICD9CM_2006:202.67] +synonym: "Mast cell malignancy of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188668006] +is_obsolete: true + +[Term] +id: DOID:4832 +name: non small cell lung cancer recurrent +synonym: "recurrent NSCLC" EXACT [NCI2004_11_17:C7783] +is_obsolete: true + +[Term] +id: DOID:4833 +name: recurrent lung carcinoma +synonym: "relapsed Unspecified carcinoma of the lung" EXACT [NCI2004_11_17:C8953] +is_obsolete: true + +[Term] +id: DOID:4837 +name: Gorham's disease +def: "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones." [url:http\://en.wikipedia.org/wiki/Gorham%27s_disease, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease] +synonym: "Disappearing bone disease (disorder)" EXACT [SNOMEDCT_2005_07_31:240161003] +synonym: "essential osteolysis" EXACT [] +synonym: "Gorham disease" EXACT [] +synonym: "Gorham-Stout Syndrome" RELATED [] +synonym: "massive osteolysis" EXACT [] +synonym: "phantom bone disease" EXACT [] +xref: MSH:D010015 +xref: SNOMEDCT_US_2015_03_01:240161003 +xref: UMLS_CUI:C0029436 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:4838 +name: myoepithelial carcinoma +def: "A carcinoma that derives_from myoepithelial cells." [url:http\://www.diagnosticpathology.org/content/3/1/7] +xref: NCI:C7596 +xref: SNOMEDCT_US_2015_03_01:128884000 +xref: SNOMEDCT_US_2015_03_01:24292006 +xref: UMLS_CUI:C0334699 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:4839 +name: sebaceous adenocarcinoma +synonym: "adenocarcinoma of the Sebaceous gland" EXACT [NCI2004_11_17:C3767] +synonym: "Sebaceous carcinoma" EXACT [NCI2004_11_17:C40310] +xref: MSH:D018266 +xref: NCI:C40310 +xref: SNOMEDCT_US_2015_03_01:307599002 +xref: SNOMEDCT_US_2015_03_01:54734006 +xref: UMLS_CUI:C0206684 +is_a: DOID:4840 ! sebaceous carcinoma + +[Term] +id: DOID:484 +name: vascular hemostatic disease +xref: MSH:D020141 +xref: SNOMEDCT_US_2015_03_01:21112004 +xref: UMLS_CUI:C0600502 +is_a: DOID:2213 ! hemorrhagic disease + +[Term] +id: DOID:4840 +name: sebaceous carcinoma +synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:94000008] +synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:255094009] +synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:188083002] +synonym: "malignant Sebaceous tumor" EXACT [NCI2004_11_17:C8409] +xref: ICD10CM:C44 +xref: NCI:C8409 +xref: SNOMEDCT_US_2015_03_01:188083002 +xref: SNOMEDCT_US_2015_03_01:255094009 +xref: UMLS_CUI:C1382026 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:4841 +name: malignant tumor of epidermal appendage +synonym: "malignant skin Appendage neoplasm" EXACT [NCI2004_11_17:C4573] +synonym: "malignant tumor of epidermal appendage (disorder)" EXACT [SNOMEDCT_2005_07_31:255093003] +is_obsolete: true + +[Term] +id: DOID:4843 +name: subependymal glioma +synonym: "mixed subependymoma-ependymoma" EXACT [SNOMEDCT_2005_07_31:4553004] +synonym: "Subependymal astrocytoma" EXACT [NCI2004_11_17:C6989] +synonym: "Subependymal astrocytoma NOS" EXACT [SNOMEDCT_2005_07_31:189910001] +synonym: "WHO grade I Ependymal tumor" EXACT [NCI2004_11_17:C3795] +xref: MSH:D018315 +xref: NCI:C3795 +xref: OMIM:600139 +xref: SNOMEDCT_US_2015_03_01:189910001 +xref: SNOMEDCT_US_2015_03_01:4553004 +xref: UMLS_CUI:C0206725 +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:4844 +name: benign ependymoma +synonym: "epithelial ependymoma" EXACT [SNOMEDCT_2005_07_31:253066003] +synonym: "WHO grade II Ependymal tumor" EXACT [NCI2004_11_17:C3017] +xref: MSH:D004806 +xref: NCI:C3017 +xref: SNOMEDCT_US_2015_03_01:189913004 +xref: SNOMEDCT_US_2015_03_01:253066003 +xref: SNOMEDCT_US_2015_03_01:443643007 +xref: SNOMEDCT_US_2015_03_01:57706008 +xref: UMLS_CUI:C0014474 +is_a: DOID:0060101 ! benign glioma + +[Term] +id: DOID:4845 +name: pilomyxoid astrocytoma +xref: NCI:C40315 +xref: SNOMEDCT_US_2015_03_01:388600004 +xref: UMLS_CUI:C1519086 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:4846 +name: cauda equina intradural extramedullary astrocytoma +synonym: "Intradural Extramedullary Astrocytic tumor of the Cauda Equina" EXACT [NCI2004_11_17:C5408] +xref: NCI:C5408 +xref: UMLS_CUI:C1334254 +is_a: DOID:4847 ! cauda equina neoplasm + +[Term] +id: DOID:4847 +name: cauda equina neoplasm +synonym: "tumor of the Cauda Equina" EXACT [NCI2004_11_17:C5479] +xref: NCI:C5479 +xref: SNOMEDCT_US_2015_03_01:126963001 +xref: UMLS_CUI:C1263892 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:4848 +name: cerebellar astrocytoma +synonym: "astrocytoma of Cerebellum" EXACT [NCI2004_11_17:C9475] +xref: NCI:C9475 +xref: UMLS_CUI:C0740480 +is_a: DOID:4205 ! cerebellum cancer + +[Term] +id: DOID:4850 +name: glioma of visual pathway +synonym: "glioma of the optic tract" EXACT [NCI2004_11_17:C8567] +is_obsolete: true + +[Term] +id: DOID:4851 +name: pilocytic astrocytoma +def: "An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain." [url:http\://en.wikipedia.org/wiki/Pilocytic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=44341] +subset: DO_cancer_slim +synonym: "grade I Astrocytic tumor" EXACT [NCI2004_11_17:C4047] +synonym: "Piloid astrocytoma" EXACT [SNOMEDCT_2005_07_31:253064000] +xref: MSH:D001254 +xref: NCI:C4047 +xref: SNOMEDCT_US_2015_03_01:128854008 +xref: SNOMEDCT_US_2015_03_01:189915006 +xref: SNOMEDCT_US_2015_03_01:253064000 +xref: SNOMEDCT_US_2015_03_01:67859002 +xref: UMLS_CUI:C0334583 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:4852 +name: pleomorphic xanthoastrocytoma +synonym: "Pleomorphic Xantho-astrocytoma" EXACT [NCI2004_11_17:C4323] +xref: NCI:C4323 +xref: SNOMEDCT_US_2015_03_01:189924002 +xref: SNOMEDCT_US_2015_03_01:78838008 +xref: UMLS_CUI:C0334586 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:4853 +name: pilocytic astrocytoma of cerebellum +synonym: "Cerebellar Pilocytic astrocytoma" EXACT [NCI2004_11_17:C6809] +synonym: "Pilocytic astrocytoma of cerebellum (disorder)" EXACT [SNOMEDCT_2005_07_31:277507004] +xref: NCI:C6809 +xref: SNOMEDCT_US_2015_03_01:277507004 +xref: UMLS_CUI:C0349620 +is_a: DOID:4848 ! cerebellar astrocytoma + +[Term] +id: DOID:4855 +name: diencephalic astrocytomas +synonym: "astrocytoma of Diencephalon" EXACT [NCI2004_11_17:C5128] +xref: NCI:C5128 +xref: UMLS_CUI:C1333284 +is_a: DOID:3843 ! diencephalic neoplasm + +[Term] +id: DOID:4856 +name: gliofibroma +synonym: "Gliofibroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128909006] +xref: NCI:C5419 +xref: SNOMEDCT_US_2015_03_01:128909006 +xref: UMLS_CUI:C1266178 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:4857 +name: diffuse astrocytoma +synonym: "Diffuse astrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397381007] +synonym: "Diffuse astrocytoma, low grade" EXACT [SNOMEDCT_2005_07_31:38713004] +synonym: "WHO grade II astrocytoma" EXACT [NCI2004_11_17:C7173] +is_obsolete: true + +[Term] +id: DOID:4858 +name: pineal gland astrocytoma +synonym: "Pineal Astrocytic tumor" EXACT [NCI2004_11_17:C8274] +xref: NCI:C8274 +xref: UMLS_CUI:C0280795 +is_a: DOID:5032 ! pineal gland cancer + +[Term] +id: DOID:486 +name: glomeruloid hemangioma +synonym: "Glomeruloid hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:403976007] +xref: NCI:C27505 +xref: SNOMEDCT_US_2015_03_01:403976007 +xref: UMLS_CUI:C1304511 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4860 +name: brain stem astrocytic neoplasm +synonym: "Brainstem astrocytoma" EXACT [NCI2004_11_17:C7445] +xref: NCI:C7445 +xref: UMLS_CUI:C1332608 +is_a: DOID:4202 ! brain stem glioma + +[Term] +id: DOID:4863 +name: spinal cord astrocytoma +synonym: "astrocytoma of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:254948003] +synonym: "Spinal astrocytoma" EXACT [NCI2004_11_17:C4641] +xref: NCI:C4641 +xref: SNOMEDCT_US_2015_03_01:254948003 +xref: UMLS_CUI:C0349540 +is_a: DOID:3185 ! spinal cord glioma + +[Term] +id: DOID:4864 +name: Rubella virus infectious disease +def: "A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method." [url:http\://www.ictvdb.org/ICTVdB/00.073.0.02.htm] +synonym: "Rubivirus infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:4865 +name: Togaviridae infectious disease +def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." [url:http\://en.wikipedia.org/wiki/Togaviridae] +is_obsolete: true + +[Term] +id: DOID:4866 +name: salivary gland adenoid cystic carcinoma +def: "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." [url:http\://www.cigna.com/healthinfo/nord1109.html] +subset: DO_cancer_slim +synonym: "adenoid cystic cancer" EXACT [NCI2004_11_17:C2970] +synonym: "adenoid cystic carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:11671000] +synonym: "Cylindroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:302827006] +synonym: "Cylindroma NOS" EXACT [SNOMEDCT_2005_07_31:189594000] +xref: MSH:D003528 +xref: NCI:C2970 +xref: SNOMEDCT_US_2015_03_01:11671000 +xref: SNOMEDCT_US_2015_03_01:189594000 +xref: SNOMEDCT_US_2015_03_01:302827006 +xref: UMLS_CUI:C0010606 +is_a: DOID:0050904 ! salivary gland carcinoma + +[Term] +id: DOID:4867 +name: cervical adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C6346] +xref: NCI:C6346 +xref: UMLS_CUI:C1332911 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:4868 +name: prostate adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of prostate" RELATED [] +synonym: "adenoid cystic carcinoma of the prostate" EXACT [NCI2004_11_17:C5539] +xref: NCI:C5539 +xref: UMLS_CUI:C1335502 +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:4869 +name: laryngeal adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of Larynx" EXACT [NCI2004_11_17:C9462] +xref: NCI:C9462 +xref: UMLS_CUI:C1334368 +is_a: DOID:2600 ! laryngeal carcinoma + +[Term] +id: DOID:4870 +name: lacrimal gland adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of lacrimal gland" RELATED [] +xref: NCI:C4540 +xref: SNOMEDCT_US_2015_03_01:254987003 +xref: UMLS_CUI:C0346340 +is_a: DOID:298 ! lacrimal gland adenocarcinoma + +[Term] +id: DOID:4871 +name: cutaneous adenocystic carcinoma +synonym: "adenoid cystic carcinoma of the skin" EXACT [NCI2004_11_17:C4471] +synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399968001] +synonym: "adenoid cystic eccrine carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254711000] +xref: NCI:C4471 +xref: SNOMEDCT_US_2015_03_01:254711000 +xref: SNOMEDCT_US_2015_03_01:399968001 +xref: UMLS_CUI:C0346017 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:4872 +name: lung adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of lung" RELATED [] +synonym: "pulmonary adenoid cystic carcinoma" EXACT [NCI2004_11_17:C5666] +xref: NCI:C5666 +xref: UMLS_CUI:C1334439 +is_a: DOID:3905 ! lung carcinoma + +[Term] +id: DOID:4873 +name: anterior horn cell disease +xref: ICD9CM:335 +xref: ICD9CM:335.9 +xref: MSH:D016472 +xref: SNOMEDCT_US_2015_03_01:155014006 +xref: SNOMEDCT_US_2015_03_01:192884004 +xref: SNOMEDCT_US_2015_03_01:192892008 +xref: SNOMEDCT_US_2015_03_01:267693003 +xref: SNOMEDCT_US_2015_03_01:85672005 +xref: UMLS_CUI:C0154681 +is_a: DOID:12377 ! spinal muscular atrophy + +[Term] +id: DOID:4875 +name: trachea adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of trachea" RELATED [] +synonym: "adenoid cystic carcinoma of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:254619006] +synonym: "Tracheal adenoid cystic carcinoma" EXACT [NCI2004_11_17:C6051] +xref: NCI:C6051 +xref: SNOMEDCT_US_2015_03_01:254619006 +xref: UMLS_CUI:C0345945 +is_a: DOID:4876 ! trachea carcinoma + +[Term] +id: DOID:4876 +name: trachea carcinoma +def: "A tracheal cancer that effects the airway that leads from the larynx to the bronchi." [url:http\://nci.nih.gov/dictionary/?CdrID=46623] +synonym: "(Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea)" EXACT [SNOMEDCT_2005_07_31:154486000] +synonym: "(Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea)" EXACT [SNOMEDCT_2005_07_31:269562004] +synonym: "carcinoma of the trachea" RELATED [] +xref: SNOMEDCT_US_2015_03_01:154486000 +xref: SNOMEDCT_US_2015_03_01:269562004 +xref: UMLS_CUI:C0848879 +is_a: DOID:11920 ! tracheal cancer + +[Term] +id: DOID:4877 +name: breast adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of breast" RELATED [] +synonym: "Mammary Adenocystic carcinoma" EXACT [NCI2004_11_17:C5130] +xref: NCI:C5130 +xref: UMLS_CUI:C1332167 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:4878 +name: esophageal adenoid cystic carcinoma +def: "An esophageal carcinoma that derives_from epithelial cells of the salivary gland." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] +synonym: "adenoid cystic carcinoma, esophagus" EXACT [NCI2004_11_17:C5342] +xref: NCI:C5342 +xref: UMLS_CUI:C1333441 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:4879 +name: Bartholin's gland adenoid cystic carcinoma +synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [] +xref: NCI:C40295 +xref: UMLS_CUI:C1511047 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:488 +name: malignant bone vascular tumor +synonym: "bone vascular neoplasm" EXACT [] +synonym: "osseous vascular tumor" EXACT [NCI2004_11_17:C6478] +is_obsolete: true + +[Term] +id: DOID:4880 +name: kidney clear cell sarcoma +alt_id: DOID:7745 +def: "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope." [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney, url:http\://www.cancer.gov/dictionary?CdrID=44997] +synonym: " Clear cell sarcoma of kidney (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189813000] +synonym: "childhood kidney clear cell sarcoma" EXACT [] +synonym: "Clear cell sarcoma of kidney (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24007003] +synonym: "pediatric renal Clear cell sarcoma" EXACT [NCI2004_11_17:C6564] +synonym: "renal Clear cell sarcoma" EXACT [NCI2004_11_17:C4264] +xref: NCI:C4264 +xref: SNOMEDCT_US_2015_03_01:189813000 +xref: SNOMEDCT_US_2015_03_01:24007003 +xref: UMLS_CUI:C0334488 +is_a: DOID:4242 ! kidney sarcoma + +[Term] +id: DOID:4882 +name: pediatric soft part clear cell sarcoma +is_obsolete: true + +[Term] +id: DOID:4884 +name: peritoneal neoplasm +synonym: "neoplasm of peritoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:126865007] +synonym: "peritoneal neoplasm" EXACT [NCI2004_11_17:C3322] +synonym: "peritoneum neoplasm" EXACT [CSP2005:2005-3788] +is_obsolete: true + +[Term] +id: DOID:4885 +name: Colorado tick fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." [url:http\://emedicine.medscape.com/article/786688-overview] +subset: tick-borne_infectious_disease +synonym: "Tick fever, American mountain" EXACT [MTHICD9_2006:066.1] +xref: ICD10CM:A93.2 +xref: MSH:D003121 +xref: SNOMEDCT_US_2015_03_01:186607005 +xref: SNOMEDCT_US_2015_03_01:6452009 +xref: UMLS_CUI:C0009400 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:4887 +name: Rotavirus infectious disease +def: "A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." [url:http\://www.cdc.gov/rotavirus/about/symptoms.html] +is_obsolete: true + +[Term] +id: DOID:4889 +name: lymph node tuberculosis +alt_id: DOID:4888 +def: "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "king's evil" EXACT [] +synonym: "Lymph Node Tuberculosis" EXACT [NCI2004_11_17:C26896] +synonym: "scrofula" EXACT [] +synonym: "Tuberculous adenitis" EXACT [SNOMEDCT_2005_07_31:186260002] +synonym: "Tuberculous adenitis" EXACT [MTHICD9_2006:017.2] +synonym: "Tuberculous lymphadenopathy" EXACT [SNOMEDCT_2005_07_31:10893003] +xref: ICD10CM:A18.2 +xref: MSH:D014388 +xref: MSH:D018601 +xref: NCI:C26896 +xref: SNOMEDCT_US_2015_03_01:10893003 +xref: SNOMEDCT_US_2015_03_01:186260002 +xref: UMLS_CUI:C0041316 +xref: UMLS_CUI:C0242830 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:4890 +name: juvenile myoclonic epilepsy +alt_id: DOID:0050326 +def: "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years." [url:http\://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy, url:http\://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic, url:http\://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Janz syndrome" NARROW [] +xref: MSH:D020190 +xref: NCI:C84796 +xref: OMIM:254770 +xref: OMIM:607631 +xref: OMIM:608816 +xref: OMIM:611364 +xref: OMIM:614280 +xref: ORDO:862 +xref: SNOMEDCT_US_2015_03_01:6204001 +xref: UMLS_CUI:C0270853 +is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome + +[Term] +id: DOID:4892 +name: middle ear adenocarcinoma +def: "A middle ear carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of middle ear" RELATED [] +synonym: "adenocarcinoma of the middle ear" EXACT [NCI2004_11_17:C6848] +xref: NCI:C6848 +xref: UMLS_CUI:C1334758 +is_a: DOID:4893 ! middle ear carcinoma + +[Term] +id: DOID:4893 +name: middle ear carcinoma +def: "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "carcinoma of middle ear" RELATED [] +synonym: "carcinoma of the middle ear" EXACT [NCI2004_11_17:C6089] +xref: NCI:C6089 +xref: UMLS_CUI:C1334760 +is_a: DOID:5099 ! middle ear cancer + +[Term] +id: DOID:4894 +name: rete ovarii adenocarcinoma +xref: NCI:C40017 +xref: SNOMEDCT_US_2015_03_01:703655009 +xref: UMLS_CUI:C3840223 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:4895 +name: rete ovarii neoplasm +xref: NCI:C40016 +xref: UMLS_CUI:C1514909 +is_a: DOID:0060086 ! female reproductive organ benign neoplasm + +[Term] +id: DOID:4896 +name: bile duct adenocarcinoma +def: "A bile duct carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +xref: NCI:C27813 +xref: SNOMEDCT_US_2015_03_01:70179006 +xref: UMLS_CUI:C1370800 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:4897 +name: bile duct carcinoma +def: "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp] +xref: MSH:D001650 +xref: NCI:C27814 +xref: SNOMEDCT_US_2015_03_01:70179006 +xref: UMLS_CUI:C0740277 +is_a: DOID:4606 ! bile duct cancer + +[Term] +id: DOID:4898 +name: adenocarcinoma in a polyp +synonym: "adenocarcinoma in adenomatous polyp" EXACT [NCI2004_11_17:C7676] +synonym: "adenocarcinoma in adenomatous polyp (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:43233001] +is_obsolete: true + +[Term] +id: DOID:490 +name: hemangioma of lung +synonym: "pulmonary hemangioma" EXACT [NCI2004_11_17:C7747] +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4900 +name: mixed cell adenocarcinoma +synonym: "mixed cell adenocarcinoma" EXACT [NCI2004_11_17:C4158] +synonym: "mixed cell adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:38958001] +is_obsolete: true + +[Term] +id: DOID:4901 +name: peritoneal serous adenocarcinoma +synonym: "primary peritoneal serous adenocarcinoma" EXACT [] +xref: NCI:C40023 +xref: UMLS_CUI:C1514429 +is_a: DOID:1791 ! peritoneal carcinoma + +[Term] +id: DOID:4902 +name: appendix carcinoma +def: "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "(Ca appendix) or (appendix carcinoma)" EXACT [SNOMEDCT_2005_07_31:154462002] +synonym: "Ca appendix" EXACT [SNOMEDCT_2005_07_31:269541000] +synonym: "carcinoma of appendix" EXACT [NCI2004_11_17:C9330] +xref: NCI:C9330 +xref: SNOMEDCT_US_2015_03_01:154462002 +xref: SNOMEDCT_US_2015_03_01:269541000 +xref: UMLS_CUI:C0728951 +is_a: DOID:11239 ! appendix cancer + +[Term] +id: DOID:4903 +name: granular cell carcinoma +def: "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm." [url:http\://en.wikipedia.org/wiki/Granular_cell_tumor] +synonym: "granular cell adenocarcinoma" EXACT [NCI2004_11_17:C3681] +synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:69028005] +xref: MSH:D000230 +xref: NCI:C3681 +xref: SNOMEDCT_US_2015_03_01:69028005 +xref: UMLS_CUI:C0205644 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:4904 +name: intestinal type carcinoma +synonym: "adenocarcinoma, intestinal type (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:25190001] +is_obsolete: true + +[Term] +id: DOID:4905 +name: pancreatic carcinoma +def: "A pancreas cancer that derives_from epithelial cells located_in the pancreas." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.gov/cancertopics/types/pancreatic] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "carcinoma of pancreas" EXACT [SNOMEDCT_2005_07_31:255089009] +synonym: "carcinoma of pancreas" EXACT [SNOMEDCT_2005_07_31:154475002] +synonym: "carcinoma of pancreas" EXACT [SNOMEDCT_2005_07_31:93938001] +synonym: "carcinoma of pancreas (disorder)" EXACT [SNOMEDCT_2005_07_31:372142002] +synonym: "exocrine cancer" RELATED [] +synonym: "Exocrine pancreas carcinoma" EXACT [NCI2004_11_17:C3850] +synonym: "Pancreatic carcinoma, familial" RELATED [MSH:C535837] +xref: EFO:0002618 +xref: MSH:C562463 +xref: NCI:C3850 +xref: OMIM:260350 +xref: SNOMEDCT_US_2015_03_01:154475002 +xref: SNOMEDCT_US_2015_03_01:255089009 +xref: SNOMEDCT_US_2015_03_01:372142002 +xref: SNOMEDCT_US_2015_03_01:93938001 +xref: UMLS_CUI:C0235974 +is_a: DOID:1793 ! pancreatic cancer + +[Term] +id: DOID:4906 +name: small intestine adenocarcinoma +def: "A small intestine carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of small Intestine" RELATED [] +synonym: "small intestinal adenocarcinoma" EXACT [NCI2004_11_17:C7888] +xref: NCI:C7888 +xref: SNOMEDCT_US_2015_03_01:424440001 +xref: UMLS_CUI:C0278803 +is_a: DOID:4907 ! small intestine carcinoma + +[Term] +id: DOID:4907 +name: small intestine carcinoma +def: "A small intestine cancer that develops from epithelial cells and is located_in the small intestine." [url:http\://en.wikipedia.org/wiki/Small_intestine_cancer] +synonym: "cancer of the small bowel" RELATED [] +synonym: "small bowel cancer" RELATED [] +synonym: "small intestinal carcinoma" EXACT [NCI2004_11_17:C7724] +xref: NCI:C7724 +xref: UMLS_CUI:C0238196 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:4908 +name: anal carcinoma +def: "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus." [url:http\://en.wikipedia.org/wiki/Anal_cancer] +synonym: "Ca anus" EXACT [SNOMEDCT_2005_07_31:269546005] +synonym: "carcinoma of anus" EXACT [NCI2004_11_17:C9291] +xref: MSH:D001005 +xref: NCI:C9291 +xref: SNOMEDCT_US_2015_03_01:154467008 +xref: SNOMEDCT_US_2015_03_01:187762000 +xref: SNOMEDCT_US_2015_03_01:255084004 +xref: SNOMEDCT_US_2015_03_01:269546005 +xref: UMLS_CUI:C0279637 +is_a: DOID:14110 ! anus cancer + +[Term] +id: DOID:4910 +name: urethra adenocarcinoma +def: "An urethra cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the urethra" EXACT [NCI2004_11_17:C6167] +xref: NCI:C6167 +xref: UMLS_CUI:C1336885 +is_a: DOID:734 ! urethra cancer + +[Term] +id: DOID:4911 +name: superficial spreading adenocarcinoma +synonym: "Superficial Spreading adenocarcinoma" EXACT [NCI2004_11_17:C4125] +synonym: "Superficial spreading adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:81446001] +is_obsolete: true + +[Term] +id: DOID:4912 +name: disseminated adenocarcinoma +synonym: "Disseminated adenocarcinoma" EXACT [NCI2004_11_17:C27185] +synonym: "Disseminated adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:301036008] +is_obsolete: true + +[Term] +id: DOID:4914 +name: esophagus adenocarcinoma +def: "An esophageal carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +subset: DO_cancer_slim +synonym: "adenocarcinoma of esophagus" RELATED [] +synonym: "adenocarcinoma of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:276803003] +synonym: "Oesophageal adenocarcinoma NOS" EXACT [NCI2004_11_17:C4025] +xref: MSH:C562730 +xref: NCI:C4025 +xref: SNOMEDCT_US_2015_03_01:276803003 +xref: UMLS_CUI:C0279628 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:4915 +name: basophilic carcinoma +synonym: "Basophil adenocarcinoma" EXACT [NCI2004_11_17:C27392] +synonym: "Basophil carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:47107000] +xref: NCI:C4150 +xref: SNOMEDCT_US_2015_03_01:47107000 +xref: UMLS_CUI:C0334314 +is_a: DOID:4916 ! pituitary carcinoma + +[Term] +id: DOID:4916 +name: pituitary carcinoma +synonym: "carcinoma of the Pituitary gland" EXACT [NCI2004_11_17:C4536] +xref: MSH:D010911 +xref: NCI:C4536 +xref: SNOMEDCT_US_2015_03_01:128665000 +xref: SNOMEDCT_US_2015_03_01:254955001 +xref: UMLS_CUI:C0346300 +is_a: DOID:1785 ! pituitary cancer + +[Term] +id: DOID:4917 +name: villous adenocarcinoma +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15489649] +synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28558000] +xref: NCI:C4142 +xref: SNOMEDCT_US_2015_03_01:28558000 +xref: UMLS_CUI:C0334306 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:4918 +name: renal pelvis adenocarcinoma +def: "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of renal pelvis" RELATED [] +synonym: "adenocarcinoma of the kidney Pelvis" EXACT [NCI2004_11_17:C6143] +xref: NCI:C6143 +xref: UMLS_CUI:C1335748 +is_a: DOID:4919 ! renal pelvis carcinoma + +[Term] +id: DOID:4919 +name: renal pelvis carcinoma +alt_id: DOID:12343 +synonym: "carcinoma of kidney Pelvis" EXACT [NCI2004_11_17:C6142] +synonym: "malignant neoplasm of renal pelvis" EXACT [ICD9CM_2006:189.1, SNOMEDCT_2005_07_31:93985007] +synonym: "malignant neoplasm of renal pelvis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188254006] +synonym: "malignant renal Pelvis neoplasm" EXACT [NCI2004_11_17:C7525] +synonym: "malignant tumor of renal pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:363457009] +synonym: "renal pelvis cancer" EXACT [] +xref: ICD10CM:C65 +xref: ICD9CM:189.1 +xref: NCI:C6142 +xref: NCI:C7525 +xref: SNOMEDCT_US_2015_03_01:188254006 +xref: SNOMEDCT_US_2015_03_01:363457009 +xref: SNOMEDCT_US_2015_03_01:93985007 +xref: UMLS_CUI:C0153618 +xref: UMLS_CUI:C1335749 +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:492 +name: acquired hemangioma +xref: NCI:C27018 +xref: UMLS_CUI:C0856897 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4920 +name: eccrine adenocarcinoma +def: "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "Eccrine adenocarcinoma" EXACT [NCI2004_11_17:C27255] +synonym: "Eccrine adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128686000] +xref: SNOMEDCT_US_2015_03_01:128686000 +xref: UMLS_CUI:C1266066 +is_a: DOID:4921 ! eccrine sweat gland cancer + +[Term] +id: DOID:4921 +name: eccrine sweat gland cancer +synonym: "malignant eccrine skin neoplasm" EXACT [] +synonym: "malignant Eccrine tumor" EXACT [NCI2004_11_17:C5559] +xref: NCI:C5559 +xref: UMLS_CUI:C1334577 +is_a: DOID:2095 ! sweat gland cancer + +[Term] +id: DOID:4922 +name: breast secretory carcinoma +alt_id: DOID:6586 +synonym: "juvenile breast carcinoma" EXACT [] +synonym: "juvenile carcinoma of the breast" RELATED [] +synonym: "Juvenile carcinoma of the breast (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:41919003] +synonym: "Juvenile Secretory carcinoma of breast" EXACT [NCI2004_11_17:C4189] +xref: MSH:C537535 +xref: NCI:C4189 +xref: SNOMEDCT_US_2015_03_01:41919003 +xref: UMLS_CUI:C0334371 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:4923 +name: thymus adenocarcinoma +def: "A thymic carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of the Thymus" EXACT [NCI2004_11_17:C6459] +xref: NCI:C6459 +xref: UMLS_CUI:C1336743 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:4924 +name: human papillomavirus related adenocarcinoma +def: "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers." [url:http\://www.springerlink.com/content/7652866m7198p524/fulltext.pdf] +synonym: "HPV-Related adenocarcinoma" EXACT [NCI2004_11_17:C27684] +is_obsolete: true + +[Term] +id: DOID:4925 +name: human papillomavirus related carcinoma +def: "A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas." [url:http\://emedicine.medscape.com/article/219110-overview] +synonym: "HPV-Related carcinoma" EXACT [NCI2004_11_17:C27674] +is_obsolete: true + +[Term] +id: DOID:4926 +name: bronchiolo-alveolar adenocarcinoma +synonym: "Alveolar adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36310008] +synonym: "Bronchioalveolar lung carcinoma" EXACT [NCI2004_11_17:C2923] +synonym: "Bronchiolo-alveolar adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112677002] +synonym: "Bronchioloalveolar adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:307595008] +synonym: "Bronchioloalveolar carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:373627005] +xref: MSH:D002282 +xref: NCI:C2923 +xref: SNOMEDCT_US_2015_03_01:112677002 +xref: SNOMEDCT_US_2015_03_01:307595008 +xref: SNOMEDCT_US_2015_03_01:36310008 +xref: SNOMEDCT_US_2015_03_01:373627005 +xref: UMLS_CUI:C0007120 +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:4927 +name: Klatskin's tumor +synonym: "hilar cholangiocarcinoma" EXACT [] +synonym: "Klatskin tumor" EXACT [] +synonym: "Klatskin's tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:253017000] +synonym: "Klatskin's tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:6492006] +synonym: "Perihilar extrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C5859] +xref: MSH:D018285 +xref: NCI:C36077 +xref: SNOMEDCT_US_2015_03_01:253017000 +xref: SNOMEDCT_US_2015_03_01:6492006 +xref: UMLS_CUI:C0206702 +is_a: DOID:4928 ! intrahepatic cholangiocarcinoma + +[Term] +id: DOID:4928 +name: intrahepatic cholangiocarcinoma +synonym: "Intrahepatic bile duct carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:109842005] +synonym: "peripheral Cholangiocarcinoma" EXACT [NCI2004_11_17:C35417] +xref: ICD10CM:C22.1 +xref: MSH:C535533 +xref: NCI:C35417 +xref: SNOMEDCT_US_2015_03_01:109842005 +xref: UMLS_CUI:C0345905 +is_a: DOID:4947 ! cholangiocarcinoma + +[Term] +id: DOID:4929 +name: tubular adenocarcinoma +def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma." [url:http\://onlinelibrary.wiley.com/store/10.1002/dc.2161/asset/2161_ftp.pdf?v=1&t=gpju9amb&s=f4e446d3a3c1e806325be5d11994dc6fb4670edf] +synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4631006] +synonym: "tubular carcinoma" EXACT [NCI2004_11_17:C3682] +xref: MSH:D000230 +xref: NCI:C65192 +xref: SNOMEDCT_US_2015_03_01:4631006 +xref: UMLS_CUI:C0205645 +is_a: DOID:299 ! adenocarcinoma + +[Term] +id: DOID:4930 +name: nasal cavity adenocarcinoma +def: "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of nasal cavity" RELATED [] +synonym: "adenocarcinoma of the nasal cavity" EXACT [NCI2004_11_17:C6015] +xref: NCI:C6015 +xref: UMLS_CUI:C1334920 +is_a: DOID:4931 ! nasal cavity carcinoma + +[Term] +id: DOID:4931 +name: nasal cavity carcinoma +def: "A nasal cavity cancer that_has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +synonym: "cancer of nasal cavity" EXACT [NCI2004_11_17:C9336] +synonym: "carcinoma of nasal cavity" RELATED [] +xref: NCI:C9336 +xref: UMLS_CUI:C1377785 +is_a: DOID:10811 ! nasal cavity cancer + +[Term] +id: DOID:4932 +name: ampulla of Vater carcinoma +def: "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +subset: DO_cancer_slim +synonym: "ampulla of vater cancer" EXACT [NCI2004_11_17:C3908] +synonym: "ampullary carcinoma" EXACT [] +synonym: "carcinoma of ampulla of vater (disorder)" EXACT [SNOMEDCT_2005_07_31:254609000] +xref: NCI:C3908 +xref: SNOMEDCT_US_2015_03_01:254609000 +xref: UMLS_CUI:C0262401 +is_a: DOID:10020 ! ampulla of Vater cancer + +[Term] +id: DOID:4933 +name: apocrine adenocarcinoma +alt_id: DOID:5571 +def: "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "Apocrine adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:57141000] +synonym: "Apocrine carcinoma" EXACT [NCI2004_11_17:C4169] +synonym: "apocrine gland carcinoma" EXACT [] +synonym: "carcinoma of the Apocrine gland" EXACT [NCI2004_11_17:C5575] +xref: SNOMEDCT_US_2015_03_01:57141000 +xref: UMLS_CUI:C0334346 +is_a: DOID:4934 ! apocrine sweat gland cancer + +[Term] +id: DOID:4934 +name: apocrine sweat gland cancer +synonym: "malignant Apocrine tumor" EXACT [NCI2004_11_17:C6800] +xref: NCI:C6800 +xref: UMLS_CUI:C1334561 +is_a: DOID:2095 ! sweat gland cancer + +[Term] +id: DOID:4935 +name: acidophil carcinoma +synonym: "Acidophil carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:51217003] +synonym: "Eosinophil carcinoma" EXACT [NCI2004_11_17:C4147] +is_obsolete: true + +[Term] +id: DOID:4936 +name: mixed eosinophil-basophil carcinoma +synonym: "mixed acidophil-basophil carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:23444003] +is_obsolete: true + +[Term] +id: DOID:4937 +name: oxyphilic adenocarcinoma +synonym: "Follicular carcinoma, oxyphilic cell" EXACT [SNOMEDCT_2005_07_31:57596004] +synonym: "Hurthle cell adenocarcinoma" EXACT [NCI2004_11_17:C3679] +is_obsolete: true + +[Term] +id: DOID:4938 +name: ureter adenocarcinoma +def: "An ureter carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of ureter" RELATED [] +synonym: "ureteral adenocarcinoma" EXACT [NCI2004_11_17:C6155] +xref: NCI:C6155 +xref: UMLS_CUI:C1336873 +is_a: DOID:4939 ! ureter carcinoma + +[Term] +id: DOID:4939 +name: ureter carcinoma +def: "An ureter cancer that is located_in the ureter." [url:http\://www.mayoclinic.org/ureter-cancer/] +subset: DO_cancer_slim +synonym: "ureteral carcinoma" EXACT [NCI2004_11_17:C8993] +xref: NCI:C8993 +xref: UMLS_CUI:C0600079 +is_a: DOID:11819 ! ureter cancer + +[Term] +id: DOID:4942 +name: combined hepatocellular carcinoma and cholangiocarcinoma +synonym: "carcinoma of Liver and Intrahepatic biliary tract" EXACT [NCI2004_11_17:C3828] +synonym: "Combined hepatocellular carcinoma and cholangiocarcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:274902006] +synonym: "Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:52178006] +is_obsolete: true + +[Term] +id: DOID:4943 +name: adenocarcinoma in situ +synonym: "adenocarcinoma in situ (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:51642000] +xref: MSH:D065311 +xref: NCI:C4123 +xref: SNOMEDCT_US_2015_03_01:51642000 +xref: UMLS_CUI:C0334276 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:4944 +name: gastroesophageal junction adenocarcinoma +synonym: "adenocarcinoma of Cardioesophageal junction" EXACT [NCI2004_11_17:C9296] +synonym: "adenocarcinoma of gastroesophageal junction" RELATED [] +xref: NCI:C9296 +xref: UMLS_CUI:C1332166 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:4947 +name: cholangiocarcinoma +alt_id: DOID:5249 +def: "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." [url:http\://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma, url:http\://en.wikipedia.org/wiki/Cholangiocarcinoma, url:http\://www.cancer.gov/dictionary?CdrID=335064] +subset: DO_cancer_slim +synonym: "adult primary Cholangiocarcinoma" EXACT [NCI2004_11_17:C8265] +synonym: "adult primary cholangiocellular carcinoma" EXACT [] +synonym: "cholangiosarcoma" EXACT [NCI2004_11_17:C4436] +xref: ICD10CM:C22.1 +xref: MSH:D018281 +xref: NCI:C4436 +xref: NCI:C8265 +xref: SNOMEDCT_US_2015_03_01:312104005 +xref: SNOMEDCT_US_2015_03_01:70179006 +xref: UMLS_CUI:C0206698 +xref: UMLS_CUI:C0280725 +is_a: DOID:4896 ! bile duct adenocarcinoma + +[Term] +id: DOID:4948 +name: gallbladder carcinoma +def: "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://nci.nih.gov/cancertopics/types/gallbladder/] +synonym: "cancer of the gallbladder" EXACT [NCI2004_11_17:C3844] +synonym: "carcinoma gallbladder" EXACT [SNOMEDCT_2005_07_31:255085003] +synonym: "carcinoma gallbladder" EXACT [SNOMEDCT_2005_07_31:187782001] +synonym: "carcinoma gallbladder" EXACT [SNOMEDCT_2005_07_31:93810008] +synonym: "carcinoma of gallbladder (disorder)" EXACT [SNOMEDCT_2005_07_31:372140005] +xref: NCI:C3844 +xref: SNOMEDCT_US_2015_03_01:187782001 +xref: SNOMEDCT_US_2015_03_01:255085003 +xref: SNOMEDCT_US_2015_03_01:372140005 +xref: SNOMEDCT_US_2015_03_01:93810008 +xref: UMLS_CUI:C0235782 +is_a: DOID:3121 ! gallbladder cancer + +[Term] +id: DOID:495 +name: sclerosing hemangioma +synonym: "Sclerosing haemangioma" EXACT [SNOMEDCT_2005_07_31:72079004] +synonym: "Sclerosing haemangioma" EXACT [SNOMEDCT_2005_07_31:134302009] +synonym: "Sclerosing hemangioma" EXACT [MTH:NOCODE] +xref: SNOMEDCT_US_2015_03_01:134302009 +xref: SNOMEDCT_US_2015_03_01:72079004 +xref: UMLS_CUI:C1509148 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4952 +name: postpoliomyelitis syndrome +def: "A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems." [url:http\://en.wikipedia.org/wiki/Postpolio_syndrome, url:http\://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms] +synonym: "Postpolio syndrome" EXACT [SNOMEDCT_2005_07_31:367094007] +xref: ICD10CM:G14 +xref: MSH:D016262 +xref: SNOMEDCT_US_2015_03_01:31097004 +xref: SNOMEDCT_US_2015_03_01:367094007 +xref: UMLS_CUI:C0080040 +is_a: DOID:4953 ! poliomyelitis + +[Term] +id: DOID:4953 +name: poliomyelitis +def: "A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis." [url:http\://en.wikipedia.org/wiki/Poliomyelitis, url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] +xref: ICD10CM:A80 +xref: ICD10CM:A80.9 +xref: ICD9CM:045 +xref: ICD9CM:045.9 +xref: MSH:D011051 +xref: NCI:C35550 +xref: SNOMEDCT_US_2015_03_01:154320008 +xref: SNOMEDCT_US_2015_03_01:186475007 +xref: SNOMEDCT_US_2015_03_01:186481004 +xref: SNOMEDCT_US_2015_03_01:187390004 +xref: SNOMEDCT_US_2015_03_01:266189002 +xref: SNOMEDCT_US_2015_03_01:367318001 +xref: SNOMEDCT_US_2015_03_01:398102009 +xref: SNOMEDCT_US_2015_03_01:398256009 +xref: SNOMEDCT_US_2015_03_01:54839009 +xref: UMLS_CUI:C0032371 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:4955 +name: central nervous system melanocytic neoplasm +alt_id: DOID:4954 +synonym: "central nervous system primary melanocytic lesion" RELATED [] +synonym: "melanocytic tumor of the CNS" EXACT [NCI2004_11_17:C5504] +synonym: "primary melanocytic lesion of meninges (disorder)" RELATED [SNOMEDCT_2005_07_31:277523004] +synonym: "primary melanocytic Lesions of the CNS" RELATED [NCI2004_11_17:C4661] +xref: NCI:C4661 +xref: NCI:C5504 +xref: SNOMEDCT_US_2015_03_01:277523004 +xref: UMLS_CUI:C0349623 +xref: UMLS_CUI:C1332887 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:4956 +name: leptomeningeal neoplasm +synonym: "tumor of leptomeninges" EXACT [NCI2004_11_17:C4958] +is_obsolete: true + +[Term] +id: DOID:4957 +name: meninges hemangiopericytoma +synonym: "hemangiopericytoma of meninges (disorder)" EXACT [SNOMEDCT_2005_07_31:277522009] +synonym: "Meningeal hemangiopericytoma" EXACT [NCI2004_11_17:C4660] +xref: NCI:C4660 +xref: SNOMEDCT_US_2015_03_01:277522009 +xref: UMLS_CUI:C0349622 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:4958 +name: central nervous system hemangiopericytoma +def: "A hemangiopericytoma which is manifested in the central nervous system." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/1985083] +is_obsolete: true + +[Term] +id: DOID:4959 +name: epidermolysis bullosa dystrophica +synonym: "Dystrophic epidermolysis bullosa" EXACT [SNOMEDCT_2005_07_31:205587006] +synonym: "Dystrophic epidermolysis bullosa (disorder)" EXACT [SNOMEDCT_2005_07_31:254185007] +xref: ICD10CM:Q81.2 +xref: MSH:D016108 +xref: NCI:C84691 +xref: SNOMEDCT_US_2015_03_01:205587006 +xref: SNOMEDCT_US_2015_03_01:254185007 +xref: UMLS_CUI:C0079294 +is_a: DOID:2730 ! epidermolysis bullosa + +[Term] +id: DOID:496 +name: spindle cell hemangioma +synonym: "SCH" EXACT [NCI2004_11_17:C4754] +synonym: "spindle cell angioendothelioma" EXACT [SNOMEDCT_2005_07_31:128769003] +synonym: "spindle cell hemangioendothelioma [dup] (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134304005] +synonym: "spindle cell hemangioma (disorder)" EXACT [SNOMEDCT_2005_07_31:403967000] +xref: NCI:C4754 +xref: SNOMEDCT_US_2015_03_01:128769003 +xref: SNOMEDCT_US_2015_03_01:134304005 +xref: SNOMEDCT_US_2015_03_01:403967000 +xref: UMLS_CUI:C1304508 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:4960 +name: bone marrow cancer +alt_id: DOID:2356 +alt_id: DOID:2761 +def: "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow." [url:http\://nci.nih.gov/dictionary/?CdrID=430857] +synonym: "bone marrow neoplasm" EXACT [CSP2005:2004-0492] +synonym: "bone Marrow tumor" EXACT [NCI2004_11_17:C35370] +synonym: "malignant bone Marrow tumor" EXACT [NCI2004_11_17:C35501] +synonym: "malignant neoplasm of bone marrow" EXACT [] +synonym: "Myeloid neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:414792005] +synonym: "myeloproliferative disease" EXACT [] +synonym: "Myeloproliferative disease NOS" EXACT [MTHICD9_2006:238.7] +synonym: "Myeloproliferative disease, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128925001] +synonym: "Myeloproliferative disease, NOS" EXACT [SNOMEDCT_2005_07_31:20921005] +synonym: "myeloproliferative disorder" EXACT [] +synonym: "Myeloproliferative disorder (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:414794006] +synonym: "myeloproliferative neoplasm" EXACT [CSP2005:2004-0893] +synonym: "Myeloproliferative tumors" EXACT [NCI2004_11_17:C9290] +synonym: "neoplasm of bone marrow (disorder)" EXACT [SNOMEDCT_2005_07_31:414824005] +synonym: "primary malignant neoplasm of bone marrow (disorder)" EXACT [SNOMEDCT_2005_07_31:93720005] +xref: EFO:0004251 +xref: ICD10CM:D47.1 +xref: MSH:D009196 +xref: SNOMEDCT_US_2015_03_01:128925001 +xref: SNOMEDCT_US_2015_03_01:188772004 +xref: SNOMEDCT_US_2015_03_01:20921005 +xref: SNOMEDCT_US_2015_03_01:414794006 +xref: SNOMEDCT_US_2015_03_01:425333006 +xref: UMLS_CUI:C0027022 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:4961 +name: bone marrow disease +synonym: "bone marrow disorder" EXACT [CSP2005:0427-3773] +xref: MSH:D001855 +xref: NCI:C34433 +xref: SNOMEDCT_US_2015_03_01:127035006 +xref: UMLS_CUI:C0005956 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:4962 +name: pericardial tuberculosis +def: "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculous pericarditis" EXACT [] +xref: ICD10CM:A18.84 +xref: MSH:D010495 +xref: SNOMEDCT_US_2015_03_01:67256000 +xref: UMLS_CUI:C0031049 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:4964 +name: neurotic disorder +alt_id: DOID:6342 +alt_id: DOID:9687 +def: "An anxiety disorder that involves discress but neither delusions nor hallucinations." [url:http\://en.wikipedia.org/wiki/Neurosis] +synonym: "depressive neurosis" EXACT [MTH:NOCODE] +synonym: "neurosis" EXACT [CSP2005:2483-6707] +synonym: "neurotic depression" EXACT [] +synonym: "Neurotic depression reactive type" EXACT [SNOMEDCT_2005_07_31:191740008] +synonym: "Neurotic depressive state" EXACT [MTHICD9_2006:300.4] +synonym: "Psychoneurosis NOS" EXACT [MTHICD9_2006:300.9] +synonym: "reactive depression" EXACT [] +xref: ICD10CM:F34.1 +xref: ICD10CM:F48.9 +xref: MSH:D000275 +xref: MSH:D003866 +xref: MSH:D009497 +xref: NCI:C34533 +xref: NCI:C34848 +xref: NCI:C35369 +xref: SNOMEDCT_US_2015_03_01:111475002 +xref: SNOMEDCT_US_2015_03_01:154881002 +xref: SNOMEDCT_US_2015_03_01:154889000 +xref: SNOMEDCT_US_2015_03_01:191740008 +xref: SNOMEDCT_US_2015_03_01:191748001 +xref: SNOMEDCT_US_2015_03_01:192372006 +xref: SNOMEDCT_US_2015_03_01:192442004 +xref: SNOMEDCT_US_2015_03_01:268632008 +xref: SNOMEDCT_US_2015_03_01:268753005 +xref: SNOMEDCT_US_2015_03_01:78667006 +xref: SNOMEDCT_US_2015_03_01:87414006 +xref: UMLS_CUI:C0011579 +xref: UMLS_CUI:C0027932 +xref: UMLS_CUI:C0282126 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:4966 +name: adrenocortical hyperplasia +synonym: "Adrenal Cortical hyperplasia" EXACT [NCI2004_11_17:C3506] +synonym: "Adrenocortical hyperplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:237777008] +is_obsolete: true + +[Term] +id: DOID:4967 +name: adrenal hyperplasia +synonym: "Adrenal gland hyperplasia" EXACT [NCI2004_11_17:C35408] +synonym: "Adrenal hypertrophy or hyperplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:237775000] +is_obsolete: true + +[Term] +id: DOID:4968 +name: Nelson syndrome +synonym: "Nelson syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:43019009] +synonym: "Nelson's syndrome" EXACT [SNOMEDCT_2005_07_31:190503006] +xref: ICD10CM:E24.1 +xref: MSH:D009347 +xref: NCI:C84917 +xref: SNOMEDCT_US_2015_03_01:190503006 +xref: SNOMEDCT_US_2015_03_01:43019009 +xref: UMLS_CUI:C0027577 +is_a: DOID:3952 ! adrenal cortex disease + +[Term] +id: DOID:4969 +name: Gerstmann syndrome +def: "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." [url:http\://en.wikipedia.org/wiki/Gerstmann_syndrome, url:http\://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm] +synonym: "Aphasia-angular gyrus syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:36785009] +xref: MEDDRA:10048608 +xref: MSH:D005862 +xref: ORDO:221117 +xref: SNOMEDCT_US_2015_03_01:36785009 +xref: UMLS_CUI:C0017494 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:4970 +name: prosopagnosia +def: "An agnosia that results in the loss of the ability to consciously recognize familiar faces." [url:http\://en.wikipedia.org/wiki/Agnosia] +xref: ICD10CM:R48.3 +xref: MSH:D020238 +xref: NCI:C85031 +xref: SNOMEDCT_US_2015_03_01:18358003 +xref: UMLS_CUI:C0234512 +is_a: DOID:4090 ! agnosia + +[Term] +id: DOID:4971 +name: myelofibrosis +alt_id: DOID:5737 +def: "A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue." [url:http\://en.wikipedia.org/wiki/Myelofibrosis] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Agnogenic myeloid metaplasia" EXACT [SNOMEDCT_2005_07_31:52967002] +synonym: "Aleukemic myelosis" EXACT [MTHICD9_2006:205.8] +synonym: "bone Marrow Fibrosis" EXACT [NCI2004_11_17:C36212] +synonym: "Megakaryocytic myelosclerosis" EXACT [SNOMEDCT_2005_07_31:189508006] +synonym: "myelosclerosis" EXACT [CSP2005:2004-0936] +synonym: "primary myelofibrosis" EXACT [] +xref: ICD10CM:D47.4 +xref: ICD10CM:D75.81 +xref: ICD9CM:238.76 +xref: ICD9CM:289.83 +xref: MSH:D055728 +xref: NCI:C2862 +xref: NCI:C3248 +xref: OMIM:254450 +xref: SNOMEDCT_US_2015_03_01:128843003 +xref: SNOMEDCT_US_2015_03_01:154841009 +xref: SNOMEDCT_US_2015_03_01:188773009 +xref: SNOMEDCT_US_2015_03_01:22265001 +xref: SNOMEDCT_US_2015_03_01:267572005 +xref: SNOMEDCT_US_2015_03_01:307651005 +xref: SNOMEDCT_US_2015_03_01:52967002 +xref: SNOMEDCT_US_2015_03_01:78956007 +xref: UMLS_CUI:C0001815 +xref: UMLS_CUI:C0026987 +is_a: DOID:0070004 ! myeloma + +[Term] +id: DOID:4972 +name: myelodysplastic myeloproliferative cancer +alt_id: DOID:6470 +def: "A bone marrow cancer that results_in the overproduction of white blood cells." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print] +synonym: "myelodysplastic myeloproliferative disease" RELATED [] +synonym: "Myeloproliferative/Myelodysplastic syndromes" EXACT [NCI2004_11_17:C27262] +xref: MSH:D054437 +xref: NCI:C27262 +xref: SNOMEDCT_US_2015_03_01:397336008 +xref: SNOMEDCT_US_2015_03_01:445738007 +xref: UMLS_CUI:C1301355 +is_a: DOID:4960 ! bone marrow cancer + +[Term] +id: DOID:4974 +name: actinobacillosis +def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/50100.htm, url:http\://www.sciencedirect.com/science/article/pii/073646799500066J, url:www.jrheum.com/subscribers/04/08/tables/PDF/1663.pdf] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Actinobacillosis, NOS" EXACT [SNOMEDCT_2005_07_31:16140007] +xref: MSH:D000187 +xref: SNOMEDCT_US_2015_03_01:16140007 +xref: UMLS_CUI:C0001247 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:4975 +name: Actinobacillus infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "Actinobacillus infection (disorder)" EXACT [SNOMEDCT_2005_07_31:16140007] +is_obsolete: true + +[Term] +id: DOID:4976 +name: elephantiasis +synonym: "Elephantiasis NOS" EXACT [MTHICD9_2006:457.1] +xref: MSH:D004604 +xref: NCI:C34569 +xref: SNOMEDCT_US_2015_03_01:155485008 +xref: SNOMEDCT_US_2015_03_01:240820001 +xref: SNOMEDCT_US_2015_03_01:266334008 +xref: UMLS_CUI:C0013882 +is_a: DOID:4977 ! lymphedema + +[Term] +id: DOID:4977 +name: lymphedema +synonym: "Lymphatic edema (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30213001] +synonym: "Lymphoedema NOS" EXACT [SNOMEDCT_2005_07_31:266334008] +xref: MSH:D008209 +xref: NCI:C3207 +xref: SNOMEDCT_US_2015_03_01:155485008 +xref: SNOMEDCT_US_2015_03_01:195486001 +xref: SNOMEDCT_US_2015_03_01:234097001 +xref: SNOMEDCT_US_2015_03_01:266334008 +xref: SNOMEDCT_US_2015_03_01:30213001 +xref: UMLS_CUI:C0024236 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:4978 +name: Ewing's family recurrent tumor +synonym: "recurrent Askin's tumor" EXACT [NCI2004_11_17:C27900] +synonym: "recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCI2004_11_17:C27898] +is_obsolete: true + +[Term] +id: DOID:4979 +name: recurrent primitive neuroectodermal tumor +is_obsolete: true + +[Term] +id: DOID:4982 +name: metastatic Ewing's sarcoma +synonym: "Ewing's sarcoma, metastatic" EXACT [NCI2004_11_17:C7807] +is_obsolete: true + +[Term] +id: DOID:4983 +name: metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor +is_obsolete: true + +[Term] +id: DOID:4985 +name: extraosseous Ewings sarcoma-primitive neuroepithelial tumor +synonym: "extraosseous Ewing's tumor" EXACT [NCI2004_11_17:C7135] +xref: NCI:C7135 +xref: UMLS_CUI:C0279980 +is_a: DOID:4232 ! extraosseous Ewing's sarcoma + +[Term] +id: DOID:4986 +name: nonparalytic poliomyelitis +def: "A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] +synonym: "acute nonparalytic poliomyelitis" EXACT [] +synonym: "non-paralytic aseptic meningitis" EXACT [] +xref: ICD10CM:A80.4 +xref: ICD9CM:045.2 +xref: ICD9CM:045.20 +xref: SNOMEDCT_US_2015_03_01:14535005 +xref: UMLS_CUI:C0152998 +is_a: DOID:4953 ! poliomyelitis + +[Term] +id: DOID:4987 +name: recurrent Ewing's sarcoma +synonym: "relapsed Ewing's sarcoma" EXACT [NCI2004_11_17:C7808] +is_obsolete: true + +[Term] +id: DOID:4988 +name: alcoholic pancreatitis +xref: MSH:D019512 +xref: SNOMEDCT_US_2015_03_01:445507008 +xref: UMLS_CUI:C0376670 +is_a: DOID:4989 ! pancreatitis + +[Term] +id: DOID:4989 +name: pancreatitis +xref: EFO:0000278 +xref: ICD10CM:K85.9 +xref: MSH:D010195 +xref: NCI:C3306 +xref: SNOMEDCT_US_2015_03_01:197461009 +xref: SNOMEDCT_US_2015_03_01:393591004 +xref: SNOMEDCT_US_2015_03_01:75694006 +xref: UMLS_CUI:C0030305 +is_a: DOID:26 ! pancreas disease + +[Term] +id: DOID:4990 +name: essential tremor +def: "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." [url:http\://en.wikipedia.org/wiki/Essential_tremor, url:http\://ghr.nlm.nih.gov/condition/essential-tremor] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "benign essential tremor" EXACT [MTHICD9_2006:333.1] +synonym: "essential hereditary tremor" EXACT [] +synonym: "shaky hand syndrome" EXACT [] +xref: ICD10CM:G25.0 +xref: MSH:D020329 +xref: OMIM:190300 +xref: OMIM:602134 +xref: OMIM:611456 +xref: OMIM:614782 +xref: ORDO:862 +xref: SNOMEDCT_US_2015_03_01:192839001 +xref: SNOMEDCT_US_2015_03_01:632009 +xref: UMLS_CUI:C0270736 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:4991 +name: optic nerve astrocytoma +alt_id: DOID:4849 +synonym: "Astrocytic tumor of optic nerve" EXACT [NCI2004_11_17:C6769] +synonym: "optic tract astrocytoma" EXACT [] +xref: NCI:C6769 +xref: NCI:C7533 +xref: UMLS_CUI:C1335114 +xref: UMLS_CUI:C1336971 +is_a: DOID:4992 ! optic nerve glioma + +[Term] +id: DOID:4992 +name: optic nerve glioma +synonym: "glioma of the optic nerve" EXACT [NCI2004_11_17:C4537] +xref: MSH:D020339 +xref: NCI:C4537 +xref: SNOMEDCT_US_2015_03_01:254976006 +xref: SNOMEDCT_US_2015_03_01:404662003 +xref: UMLS_CUI:C0346326 +is_a: DOID:3419 ! optic nerve neoplasm + +[Term] +id: DOID:4993 +name: atypical polypoid adenomyoma +synonym: "Atypical polypoid adenomyoma" EXACT [NCI2004_11_17:C6895] +synonym: "Atypical polypoid adenomyoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:388987001] +xref: NCI:C6895 +xref: SNOMEDCT_US_2015_03_01:388987001 +xref: SNOMEDCT_US_2015_03_01:40293003 +xref: UMLS_CUI:C1300347 +is_a: DOID:2609 ! adenomyoma + +[Term] +id: DOID:4994 +name: adenomyoma of uterine corpus +synonym: "adenomyoma of Corpus Uteri" EXACT [NCI2004_11_17:C6338] +xref: NCI:C6338 +xref: UMLS_CUI:C1336903 +is_a: DOID:2609 ! adenomyoma + +[Term] +id: DOID:4995 +name: cervical adenomyoma +xref: NCI:C40231 +xref: UMLS_CUI:C1516404 +is_a: DOID:2609 ! adenomyoma + +[Term] +id: DOID:4997 +name: Camurati-Engelmann disease +def: "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone." [url:http\://en.wikipedia.org/wiki/Camurati-Engelmann_disease, url:http\://ghr.nlm.nih.gov/condition/camurati-engelmann-disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1156/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Diaphyseal dysplasia" EXACT [SNOMEDCT_2005_07_31:205505000] +synonym: "Engelman's disease" EXACT [SNOMEDCT_2005_07_31:240174009] +synonym: "progressive diaphyseal dysplasia" EXACT [] +xref: ICD10CM:Q78.3 +xref: MSH:D003966 +xref: NCI:C84610 +xref: OMIM:131300 +xref: OMIM:606631 +xref: SNOMEDCT_US_2015_03_01:205505000 +xref: SNOMEDCT_US_2015_03_01:240174009 +xref: SNOMEDCT_US_2015_03_01:34643004 +xref: UMLS_CUI:C0011989 +is_a: DOID:4254 ! osteosclerosis + +[Term] +id: DOID:4998 +name: trichorhinophalangeal syndrome type II +def: "An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose." [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, url:http\://www.healthline.com/galecontent/langer-giedion-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Langer-Giedion syndrome" EXACT [] +synonym: "Trichorhinophalangeal dysplasia type II" EXACT [SNOMEDCT_2005_07_31:239017000] +xref: MSH:D015826 +xref: NCI:C75118 +xref: OMIM:150230 +xref: SNOMEDCT_US_2015_03_01:239017000 +xref: SNOMEDCT_US_2015_03_01:41069008 +xref: UMLS_CUI:C0023003 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:4999 +name: syphilitic alopecia +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic alopecia (disorder)" EXACT [SNOMEDCT_2005_07_31:59307008] +is_obsolete: true + +[Term] +id: DOID:50 +name: thyroid gland disease +def: "An endocrine system disease that is located_in the thyroid." [url:http\://en.wikipedia.org/wiki/Thyroid] +xref: ICD10CM:E00-E07 +xref: ICD10CM:E07.9 +xref: ICD9CM:240-246.99 +xref: ICD9CM:246.9 +xref: MSH:D013959 +xref: NCI:C26893 +xref: SNOMEDCT_US_2015_03_01:14304000 +xref: SNOMEDCT_US_2015_03_01:154649009 +xref: SNOMEDCT_US_2015_03_01:190232008 +xref: SNOMEDCT_US_2015_03_01:190311002 +xref: SNOMEDCT_US_2015_03_01:191036006 +xref: UMLS_CUI:C0040128 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:5000 +name: cutaneous syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilitic skin disorder" EXACT [SNOMEDCT_2005_07_31:371237000] +is_obsolete: true + +[Term] +id: DOID:5002 +name: equine infectious anemia +def: "A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." [url:http\://en.wikipedia.org/wiki/Equine_infectious_anemia] +synonym: "Fever, swamp" EXACT [MTHICD9_2006:100.89] +is_obsolete: true + +[Term] +id: DOID:5003 +name: eunuchism +def: "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." [url:http\://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058] +synonym: "Eunuchism (disorder)" EXACT [SNOMEDCT_2005_07_31:267403002] +xref: MSH:D005058 +xref: SNOMEDCT_US_2015_03_01:190559001 +xref: SNOMEDCT_US_2015_03_01:267403002 +xref: UMLS_CUI:C0238117 +is_a: DOID:1924 ! hypogonadism + +[Term] +id: DOID:5006 +name: adult primary liver cancer +synonym: "adult primary cancer of the Liver" EXACT [NCI2004_11_17:C7711] +is_obsolete: true + +[Term] +id: DOID:5007 +name: resectable hepatocellular carcinoma +synonym: "Resectable Hepatoma" EXACT [NCI2004_11_17:C7691] +is_obsolete: true + +[Term] +id: DOID:501 +name: central nervous system hemangioma +synonym: "hemangioma of CNS" EXACT [NCI2004_11_17:C7004] +xref: NCI:C7004 +xref: UMLS_CUI:C1333957 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:5015 +name: hepatocellular fibrolamellar carcinoma +synonym: "Fibrolamellar hepatocellular carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:253018005] +synonym: "Hepatocellular carcinoma, fibrolamellar (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15619004] +synonym: "Oncocytic Hepatocellular tumor" EXACT [NCI2004_11_17:C4131] +xref: MSH:C537258 +xref: NCI:C4131 +xref: SNOMEDCT_US_2015_03_01:15619004 +xref: SNOMEDCT_US_2015_03_01:253018005 +xref: UMLS_CUI:C0334287 +is_a: DOID:684 ! hepatocellular carcinoma + +[Term] +id: DOID:5016 +name: hepatocellular clear cell carcinoma +synonym: "Clear cell carcinoma of the Liver cells" EXACT [NCI2004_11_17:C5754] +xref: NCI:C5754 +xref: UMLS_CUI:C1333067 +is_a: DOID:684 ! hepatocellular carcinoma + +[Term] +id: DOID:5017 +name: hepatitis virus related hepatocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:5019 +name: non-resectable hepatocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:502 +name: central nervous system mesenchymal non-meningothelial tumor +synonym: "Non-meningothelial mesenchymal tumor" EXACT [NCI2004_11_17:C6972] +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:5022 +name: aflatoxins-related hepatocellular carcinoma +xref: NCI:C27922 +xref: UMLS_CUI:C1332222 +is_a: DOID:684 ! hepatocellular carcinoma + +[Term] +id: DOID:5026 +name: sclerosing hepatic carcinoma +synonym: "Sclerosing hepatic carcinoma" EXACT [SNOMEDCT_2005_07_31:128646008] +synonym: "Sclerosing Hepatocellular carcinoma" EXACT [NCI2004_11_17:C27388] +xref: NCI:C27388 +xref: SNOMEDCT_US_2015_03_01:128646008 +xref: UMLS_CUI:C1266018 +is_a: DOID:684 ! hepatocellular carcinoma + +[Term] +id: DOID:5027 +name: recurrent hepatocellular carcinoma +synonym: "relapsed Hepatoma" EXACT [NCI2004_11_17:C9264] +is_obsolete: true + +[Term] +id: DOID:5028 +name: recurrent cancer of Liver +synonym: "relapsed cancer of the Liver" EXACT [NCI2004_11_17:C7110] +is_obsolete: true + +[Term] +id: DOID:5029 +name: Alphavirus infectious disease +def: "A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." [url:http\://en.wikipedia.org/wiki/Alphavirus] +is_obsolete: true + +[Term] +id: DOID:5030 +name: pineal parenchymal tumor of intermediate differentiation +synonym: "Pineal Parenchymal tumor of Intermediate differentiation" EXACT [NCI2004_11_17:C6967] +synonym: "Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397379005] +synonym: "Pineal parenchymal tumour of intermediate differentiation" EXACT [SNOMEDCT_2005_07_31:31671006] +xref: NCI:C6967 +xref: SNOMEDCT_US_2015_03_01:31671006 +xref: SNOMEDCT_US_2015_03_01:397379005 +xref: UMLS_CUI:C1367859 +is_a: DOID:1664 ! pineoblastoma + +[Term] +id: DOID:5031 +name: adult pineal parenchymal tumor +synonym: "adult Pineal Parenchymal neoplasm" EXACT [NCI2004_11_17:C8273] +xref: NCI:C8273 +xref: UMLS_CUI:C0280794 +is_a: DOID:5032 ! pineal gland cancer + +[Term] +id: DOID:5032 +name: pineal gland cancer +alt_id: DOID:1662 +alt_id: DOID:4859 +def: "An endocrine gland located_in the pineal gland located in the brain." [url:http\://en.wikipedia.org/wiki/Pineal_gland] +synonym: "malignant Pineal Region tumor" EXACT [NCI2004_11_17:C3573] +synonym: "malignant tumor of pineal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363483004] +synonym: "neoplasm of pineal gland (disorder)" EXACT [SNOMEDCT_2005_07_31:127026004] +synonym: "neoplasm of the Pineal Region" EXACT [NCI2004_11_17:C3328] +synonym: "pineal body neoplasm" EXACT [CSP2005:2006-6484] +synonym: "Pinealoma (disorder)" EXACT [SNOMEDCT_2005_07_31:359619007] +synonym: "Pineocytic tumor" EXACT [NCI2004_11_17:C6965] +synonym: "tumor of the pineal region" EXACT [] +xref: ICD10CM:C75.3 +xref: ICD9CM:194.4 +xref: MSH:D010871 +xref: NCI:C3328 +xref: NCI:C3573 +xref: NCI:C6965 +xref: SNOMEDCT_US_2015_03_01:127026004 +xref: SNOMEDCT_US_2015_03_01:359619007 +xref: SNOMEDCT_US_2015_03_01:363483004 +xref: SNOMEDCT_US_2015_03_01:47598005 +xref: SNOMEDCT_US_2015_03_01:93962006 +xref: UMLS_CUI:C0031941 +xref: UMLS_CUI:C0153655 +xref: UMLS_CUI:C1412004 +is_a: DOID:170 ! endocrine gland cancer + +[Term] +id: DOID:5039 +name: myoblastoma +synonym: "benign granular cell tumor" EXACT [NCI2004_11_17:C3252] +xref: MSH:D009379 +xref: NCI:C3252 +xref: UMLS_CUI:C0027043 +is_a: DOID:461 ! muscle benign neoplasm + +[Term] +id: DOID:5040 +name: malignant granular cell esophageal tumor +synonym: "granular cell tumor of esophagus" EXACT [NCI2004_11_17:C5700] +xref: NCI:C5700 +xref: UMLS_CUI:C1333448 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:5041 +name: esophageal cancer +alt_id: DOID:10291 +alt_id: DOID:10292 +alt_id: DOID:10448 +alt_id: DOID:1102 +alt_id: DOID:1104 +def: "A gastrointestinal system cancer that is located_in the esophagus." [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Esophagus] +subset: TopNodes_DOcancerslim +synonym: "Ca lower third oesophagus" EXACT [SNOMEDCT_2005_07_31:154444006] +synonym: "Ca middle third oesophagus" EXACT [SNOMEDCT_2005_07_31:154443000] +synonym: "esophagus cancer" EXACT [] +synonym: "malignant neoplasm of distal third of esophagus" EXACT [MTHICD9_2006:150.5] +synonym: "malignant neoplasm of lower third of oesophagus" EXACT [SNOMEDCT_2005_07_31:93877002] +synonym: "malignant neoplasm of middle third of oesophagus" EXACT [SNOMEDCT_2005_07_31:93895004] +synonym: "malignant neoplasm of proximal third of esophagus" EXACT [MTHICD9_2006:150.3] +synonym: "malignant neoplasm of upper third esophagus" EXACT [SNOMEDCT_2005_07_31:94119000] +synonym: "malignant tumor of abdominal esophagus" EXACT [NCI2004_11_17:C4764] +synonym: "malignant tumor of Distal Third of esophagus" EXACT [NCI2004_11_17:C3535] +synonym: "malignant tumor of Proximal Third of esophagus" EXACT [NCI2004_11_17:C3533] +synonym: "malignant tumor of the middle Third of the esophagus" EXACT [NCI2004_11_17:C3534] +xref: ICD10CM:C15.3 +xref: ICD10CM:C15.4 +xref: ICD10CM:C15.5 +xref: ICD9CM:150.2 +xref: ICD9CM:150.3 +xref: ICD9CM:150.4 +xref: ICD9CM:150.5 +xref: ICD9CM:150.8 +xref: MSH:D004938 +xref: NCI:C3028 +xref: NCI:C3533 +xref: NCI:C3534 +xref: NCI:C3535 +xref: NCI:C4764 +xref: SNOMEDCT_US_2015_03_01:126817006 +xref: SNOMEDCT_US_2015_03_01:154443000 +xref: SNOMEDCT_US_2015_03_01:154444006 +xref: SNOMEDCT_US_2015_03_01:187724003 +xref: SNOMEDCT_US_2015_03_01:187725002 +xref: SNOMEDCT_US_2015_03_01:187726001 +xref: SNOMEDCT_US_2015_03_01:187727005 +xref: SNOMEDCT_US_2015_03_01:187729008 +xref: SNOMEDCT_US_2015_03_01:269523008 +xref: SNOMEDCT_US_2015_03_01:269524002 +xref: SNOMEDCT_US_2015_03_01:93656003 +xref: SNOMEDCT_US_2015_03_01:93877002 +xref: SNOMEDCT_US_2015_03_01:93895004 +xref: SNOMEDCT_US_2015_03_01:94119000 +xref: UMLS_CUI:C0014859 +xref: UMLS_CUI:C0153413 +xref: UMLS_CUI:C0153414 +xref: UMLS_CUI:C0153415 +xref: UMLS_CUI:C0153416 +xref: UMLS_CUI:C0496775 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:5042 +name: malignant granular cell myoblastoma +synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:13238004] +synonym: "malignant granular cell neoplasm" EXACT [NCI2004_11_17:C4336] +synonym: "malignant granular cell tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404041003] +xref: NCI:C4336 +xref: SNOMEDCT_US_2015_03_01:13238004 +xref: SNOMEDCT_US_2015_03_01:404041003 +xref: UMLS_CUI:C0334618 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:5043 +name: vulvar granular cell tumor +xref: NCI:C40328 +xref: UMLS_CUI:C1520083 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:5044 +name: cardiac granular cell neoplasm +synonym: "granular cell tumor of Heart" EXACT [NCI2004_11_17:C5360] +xref: NCI:C5360 +xref: UMLS_CUI:C1332845 +is_a: DOID:0060091 ! cardiovascular organ benign neoplasm + +[Term] +id: DOID:5046 +name: mediastinal granular cell myoblastoma +synonym: "granular cell tumor of mediastinum" EXACT [NCI2004_11_17:C6601] +xref: NCI:C6601 +xref: UMLS_CUI:C1334656 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm + +[Term] +id: DOID:5047 +name: neurohypophysis granular cell tumor +xref: NCI:C7017 +xref: SNOMEDCT_US_2015_03_01:699331002 +xref: UMLS_CUI:C1333873 +is_a: DOID:5048 ! posterior pituitary gland neoplasm + +[Term] +id: DOID:5048 +name: posterior pituitary gland neoplasm +synonym: "Posterior Pituitary tumor" EXACT [NCI2004_11_17:C7157] +xref: NCI:C7157 +xref: UMLS_CUI:C1334957 +is_a: DOID:3643 ! sella turcica neoplasm + +[Term] +id: DOID:505 +name: hobnail hemangioma +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:5050 +name: ehrlich tumor carcinoma +synonym: "Ehrlich's tumor" EXACT [CSP2005:2000-2080] +xref: MSH:D002286 +xref: UMLS_CUI:C0007125 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:5052 +name: melioidosis +alt_id: DOID:0050062 +alt_id: DOID:0050064 +def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain." [url:http\://www.cdc.gov/melioidosis/symptoms/index.html] +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +synonym: "acute and fulminating melioidosis" EXACT [] +synonym: "Melioidosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187306003] +synonym: "Nightcliff gardener's disease" EXACT [] +synonym: "Pseudoglanders" EXACT [MTHICD9_2006:025] +synonym: "Pseudoglanders (disorder)" EXACT [SNOMEDCT_2005_07_31:34458001] +synonym: "subacute and chronic melioidosis" EXACT [] +synonym: "Whitmore's disease" EXACT [] +xref: ICD10CM:A24.9 +xref: ICD9CM:025 +xref: MSH:D008554 +xref: SNOMEDCT_US_2015_03_01:187306003 +xref: SNOMEDCT_US_2015_03_01:34458001 +xref: SNOMEDCT_US_2015_03_01:428111003 +xref: UMLS_CUI:C0025229 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:5053 +name: primary Burkholderia infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:5055 +name: neuronal and mixed neuronal-glial tumor of cerebellum +is_obsolete: true + +[Term] +id: DOID:5056 +name: adult cerebellar neoplasm +synonym: "tumor of adult Cerebellum" EXACT [NCI2004_11_17:C5968] +xref: NCI:C5968 +xref: UMLS_CUI:C1332197 +is_a: DOID:4205 ! cerebellum cancer + +[Term] +id: DOID:5057 +name: papillary meningioma of the cerebellum +synonym: "Papillary meningioma of Cerebellum" EXACT [NCI2004_11_17:C5270] +xref: NCI:C5270 +xref: UMLS_CUI:C1332902 +is_a: DOID:4205 ! cerebellum cancer +is_a: DOID:5058 ! rhabdoid meningioma + +[Term] +id: DOID:5058 +name: rhabdoid meningioma +synonym: "meningioma, rhabdoid (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399469000] +synonym: "Papillary meningioma" EXACT [NCI2004_11_17:C3904] +synonym: "Papillary meningioma" EXACT [SNOMEDCT_2005_07_31:57606003] +synonym: "Papillary meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128840000] +synonym: "Rhabdoid meningioma" EXACT [NCI2004_11_17:C6909] +xref: NCI:C6909 +xref: SNOMEDCT_US_2015_03_01:399469000 +xref: UMLS_CUI:C0259786 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:5059 +name: childhood cerebellar neoplasm +synonym: "pediatric tumor of Cerebellum" EXACT [NCI2004_11_17:C5970] +xref: NCI:C5970 +xref: UMLS_CUI:C1332959 +is_a: DOID:4205 ! cerebellum cancer + +[Term] +id: DOID:5062 +name: phencyclidine abuse +def: "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Phencyclidine] +synonym: "PCP abuse (disorder)" EXACT [SNOMEDCT_2005_07_31:7071007] +synonym: "Phencyclidine abuse" EXACT [MTHICD9_2006:305.9] +xref: MSH:D010623 +xref: SNOMEDCT_US_2015_03_01:7071007 +xref: UMLS_CUI:C0031391 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:5063 +name: basosquamous carcinoma +synonym: "Basisquamous cell carcinoma" EXACT [SNOMEDCT_2005_07_31:37304002] +synonym: "basosquamous cell carcinoma" EXACT [CSP2005:2000-2932] +synonym: "Metatypical carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:6641007] +xref: MSH:D002281 +xref: NCI:C2922 +xref: SNOMEDCT_US_2015_03_01:254702000 +xref: SNOMEDCT_US_2015_03_01:37304002 +xref: SNOMEDCT_US_2015_03_01:6641007 +xref: UMLS_CUI:C0007118 +is_a: DOID:2513 ! basal cell carcinoma + +[Term] +id: DOID:5069 +name: uterine corpus soft tissue neoplasm +is_obsolete: true + +[Term] +id: DOID:507 +name: adjustment disorder +def: "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred." [url:http\://en.wikipedia.org/wiki/Adjustment_disorder, url:http\://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000932.htm] +synonym: "adjustment disease" EXACT [] +synonym: "adjustment reaction" EXACT [] +xref: ICD9CM:309 +xref: ICD9CM:309.9 +xref: SNOMEDCT_US_2015_03_01:17226007 +xref: SNOMEDCT_US_2015_03_01:192068001 +xref: SNOMEDCT_US_2015_03_01:268781004 +xref: SNOMEDCT_US_2015_03_01:367487002 +xref: SNOMEDCT_US_2015_03_01:63608001 +xref: UMLS_CUI:C0040701 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:5070 +name: neoplasm of body of uterus +synonym: "neoplasm of body of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:126909004] +synonym: "tumor of Corpus Uteri" EXACT [NCI2004_11_17:C6300] +is_obsolete: true + +[Term] +id: DOID:5071 +name: central nervous system soft tissue neoplasm +synonym: "soft tissue tumor of the CNS" EXACT [NCI2004_11_17:C5449] +is_obsolete: true + +[Term] +id: DOID:5072 +name: meninges gliomatosis +synonym: "Gliomatosis of the meninges" EXACT [NCI2004_11_17:C5446] +is_obsolete: true + +[Term] +id: DOID:5073 +name: malignant neoplasm of meninges +synonym: "malignant meningeal neoplasm (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:414647009] +synonym: "malignant Meningeal tumor" EXACT [NCI2004_11_17:C4628] +synonym: "malignant neoplasm of meninges NOS" EXACT [MTHICD9_2006:192.1] +synonym: "malignant neoplasm of meninges, unspecified" EXACT [SNOMEDCT_2005_07_31:188332006] +synonym: "malignant neoplasm of meninges, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190136001] +synonym: "malignant tumor of meninges (disorder)" EXACT [SNOMEDCT_2005_07_31:363497007] +is_obsolete: true + +[Term] +id: DOID:5074 +name: malignant ependymoma +alt_id: DOID:0060107 +def: "A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain." [url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] +synonym: "Ependymal neoplasm" EXACT [NCI2004_11_17:C6770] +synonym: "ependymal tumors" EXACT [] +xref: NCI:C6770 +xref: UMLS_CUI:C1333407 +is_a: DOID:3070 ! malignant glioma + +[Term] +id: DOID:5075 +name: myxopapillary ependymoma +synonym: "Myxopapillary Ependymoma" EXACT [NCI2004_11_17:C3697] +synonym: "Myxopapillary ependymoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:1623000] +xref: MSH:D004806 +xref: NCI:C3697 +xref: SNOMEDCT_US_2015_03_01:1623000 +xref: UMLS_CUI:C0205769 +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:5076 +name: mixed glioma +synonym: "mixed glioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:22217002] +synonym: "mixed gliomas" EXACT [MTH:NOCODE] +synonym: "mixed Neuroglial tumor" EXACT [NCI2004_11_17:C3903] +xref: MSH:D005910 +xref: NCI:C3903 +xref: SNOMEDCT_US_2015_03_01:22217002 +xref: SNOMEDCT_US_2015_03_01:443937008 +xref: UMLS_CUI:C0259783 +is_a: DOID:3070 ! malignant glioma + +[Term] +id: DOID:5077 +name: subependymal giant cell astrocytoma +synonym: "SEGA" EXACT [NCI2004_11_17:C3696] +synonym: "Subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:1586004] +xref: MSH:D001254 +xref: NCI:C3696 +xref: SNOMEDCT_US_2015_03_01:1586004 +xref: SNOMEDCT_US_2015_03_01:449799008 +xref: UMLS_CUI:C0205768 +is_a: DOID:4843 ! subependymal glioma + +[Term] +id: DOID:5078 +name: ganglioglioma +alt_id: DOID:5606 +alt_id: DOID:5607 +def: "A cell type benign neoplasm that has_material_basis_in glial-type cells." [url:http\://en.wikipedia.org/wiki/Ganglioglioma, url:http\://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD] +synonym: "adult ganglioglioma" EXACT [] +synonym: "childhood ganglioglioma" EXACT [] +synonym: "CNS ganglioglioma" EXACT [] +xref: MSH:D018303 +xref: NCI:C27362 +xref: NCI:C27363 +xref: NCI:C3788 +xref: SNOMEDCT_US_2015_03_01:89880005 +xref: UMLS_CUI:C0206716 +xref: UMLS_CUI:C1332202 +xref: UMLS_CUI:C1332969 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:5082 +name: liver cirrhosis +synonym: "Cirrhosis" EXACT [SNOMEDCT_2005_07_31:266537000] +synonym: "cirrhosis of liver" EXACT [] +xref: EFO:0001422 +xref: ICD10CM:K74.60 +xref: MSH:D008103 +xref: NCI:C2951 +xref: SNOMEDCT_US_2015_03_01:155809006 +xref: SNOMEDCT_US_2015_03_01:197309008 +xref: SNOMEDCT_US_2015_03_01:19943007 +xref: SNOMEDCT_US_2015_03_01:235891006 +xref: SNOMEDCT_US_2015_03_01:266537000 +xref: UMLS_CUI:C0023890 +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:5083 +name: iodine hypothyroidism +synonym: "Iodine hypothyroidism (disorder)" EXACT [SNOMEDCT_2005_07_31:190279008] +xref: ICD9CM:244.2 +xref: SNOMEDCT_US_2015_03_01:190279008 +xref: UMLS_CUI:C0154159 +is_a: DOID:1459 ! hypothyroidism + +[Term] +id: DOID:5085 +name: transmissible gastroenteritis of swine +def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration." [url:http\://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm] +is_obsolete: true + +[Term] +id: DOID:5086 +name: transmissible enteritis of turkeys +def: "A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression." [url:http\://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg] +synonym: "Bluecomb disease (disorder)" EXACT [SNOMEDCT_2005_07_31:68246002] +synonym: "mud fever" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5087 +name: feline infectious peritonitis +def: "A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen." [url:http\://www.vet.cornell.edu/fhc/brochures/fip.html] +is_obsolete: true + +[Term] +id: DOID:5088 +name: mixed epithelial stromal tumour +xref: NCI:C37265 +xref: UMLS_CUI:C1334602 +is_a: DOID:154 ! mixed cell type cancer + +[Term] +id: DOID:5090 +name: sternum cancer +alt_id: DOID:6763 +def: "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum." [url:http\://www.cancer.gov/dictionary/?CdrID=482347] +synonym: "malignant sternal neoplasm" EXACT [] +synonym: "malignant Sternal tumor" EXACT [NCI2004_11_17:C8408] +synonym: "neoplasm of sternum" RELATED [] +synonym: "neoplasm of sternum (disorder)" EXACT [SNOMEDCT_2005_07_31:126559003] +synonym: "Sternal tumor" EXACT [NCI2004_11_17:C6730] +xref: NCI:C6730 +xref: NCI:C8408 +xref: SNOMEDCT_US_2015_03_01:126559003 +xref: UMLS_CUI:C1290244 +xref: UMLS_CUI:C1382025 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:5093 +name: thoracic cancer +alt_id: DOID:3937 +def: "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall." [url:http\://www.advocatehealth.com/cmc/body.cfm?id=203] +synonym: "Thoracic tumor" EXACT [NCI2004_11_17:C3406] +synonym: "thorax cancer" EXACT [] +synonym: "thorax neoplasm" EXACT [CSP2005:2005-5041] +synonym: "tumor of thorax (disorder)" EXACT [SNOMEDCT_2005_07_31:255058005] +xref: ICD10CM:C76.1 +xref: ICD9CM:195.1 +xref: MSH:D013899 +xref: NCI:C3406 +xref: NCI:C3576 +xref: SNOMEDCT_US_2015_03_01:188361007 +xref: SNOMEDCT_US_2015_03_01:188365003 +xref: SNOMEDCT_US_2015_03_01:255058005 +xref: UMLS_CUI:C0039981 +xref: UMLS_CUI:C0153661 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:5097 +name: axillary cancer +synonym: "Axillary neoplasm" EXACT [NCI2004_11_17:C35749] +synonym: "neoplasm of axilla (disorder)" EXACT [SNOMEDCT_2005_07_31:126639006] +is_obsolete: true + +[Term] +id: DOID:5099 +name: middle ear cancer +def: "An auditory system cancer that is located_in the middle ear." [url:http\://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors] +subset: TopNodes_DOcancerslim +synonym: "neoplasm of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:127006003] +synonym: "tumor of the middle ear" EXACT [NCI2004_11_17:C4412] +xref: NCI:C4412 +xref: SNOMEDCT_US_2015_03_01:127006003 +xref: UMLS_CUI:C0345617 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:5100 +name: middle ear disease +synonym: "disorder of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:68996008] +synonym: "middle ear disease - other" EXACT [SNOMEDCT_2005_07_31:194327004] +synonym: "middle ear disease - other (disorder)" EXACT [SNOMEDCT_2005_07_31:232250008] +synonym: "middle ear disorder" EXACT [CSP2005:0977-6947] +synonym: "middle ear disorder" EXACT [NCI2004_11_17:C27065] +synonym: "middle ear problem (finding)" EXACT [SNOMEDCT_2005_07_31:300195001] +xref: NCI:C27065 +xref: SNOMEDCT_US_2015_03_01:155260002 +xref: SNOMEDCT_US_2015_03_01:194327004 +xref: SNOMEDCT_US_2015_03_01:232250008 +xref: SNOMEDCT_US_2015_03_01:300195001 +xref: SNOMEDCT_US_2015_03_01:68996008 +xref: UMLS_CUI:C0271428 +is_a: DOID:2742 ! auditory system disease + +[Term] +id: DOID:5101 +name: auricular cancer +synonym: "malignant tumor of ear" EXACT [NCI2004_11_17:C9337] +xref: MSH:D004428 +xref: UMLS_CUI:C0751094 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:5102 +name: inner ear cancer +xref: NCI:C39784 +xref: UMLS_CUI:C1512779 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:5104 +name: testicular infarct +synonym: "infarction of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:33793000] +synonym: "testicular infarction" EXACT [NCI2004_11_17:C27617] +xref: NCI:C27617 +xref: SNOMEDCT_US_2015_03_01:33793000 +xref: UMLS_CUI:C0392041 +is_a: DOID:2519 ! testicular disease + +[Term] +id: DOID:5107 +name: achromic nevus +synonym: "Achromic nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:403541001] +synonym: "Nonpigmented nevus" EXACT [NCI2004_11_17:C27095] +synonym: "Nonpigmented nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112680001] +is_obsolete: true + +[Term] +id: DOID:5112 +name: swayback +synonym: "Swayback of sheep (disorder)" EXACT [SNOMEDCT_2005_07_31:78714004] +xref: MSH:D013540 +xref: SNOMEDCT_US_2015_03_01:78714004 +xref: UMLS_CUI:C0038981 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:5113 +name: nutritional deficiency disease +xref: MSH:D003677 +xref: UMLS_CUI:C0011156 +is_a: DOID:374 ! nutrition disease + +[Term] +id: DOID:5115 +name: bovine virus diarrhea-mucosal disease +def: "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." [url:http\://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf] +is_obsolete: true + +[Term] +id: DOID:5116 +name: central nervous system dermoid cyst +synonym: "Dermoid Cyst of the CNS" EXACT [NCI2004_11_17:C5508] +is_obsolete: true + +[Term] +id: DOID:5117 +name: dermoid cyst of ovary +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dermoid cyst (& [ovarian])" EXACT [SNOMEDCT_2005_07_31:269641006] +synonym: "Dermoid cyst (& [ovarian])" EXACT [SNOMEDCT_2005_07_31:154618004] +synonym: "Dermoid cyst of ovary" EXACT [SNOMEDCT_2005_07_31:189116006] +synonym: "Dermoid cyst of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:119424003] +synonym: "Ovarian Dermoid Cyst" EXACT [NCI2004_11_17:C3856] +xref: MSH:C562731 +xref: NCI:C3856 +xref: OMIM:166950 +xref: SNOMEDCT_US_2015_03_01:119424003 +xref: SNOMEDCT_US_2015_03_01:154618004 +xref: SNOMEDCT_US_2015_03_01:189116006 +xref: SNOMEDCT_US_2015_03_01:269641006 +xref: UMLS_CUI:C0237020 +is_a: DOID:2658 ! dermoid cyst + +[Term] +id: DOID:5118 +name: ovarian cystic teratoma +xref: NCI:C7283 +xref: UMLS_CUI:C1335155 +is_a: DOID:2660 ! cystic teratoma +is_a: DOID:6231 ! mature teratoma of the ovary + +[Term] +id: DOID:5119 +name: ovarian cyst +xref: ICD10CM:N83.2 +xref: ICD9CM:620.2 +xref: SNOMEDCT_US_2015_03_01:198586000 +xref: UMLS_CUI:C0029513 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:512 +name: epididymal neoplasm +synonym: "neoplasm of epididymis (disorder)" EXACT [SNOMEDCT_2005_07_31:126902008] +xref: NCI:C39958 +xref: SNOMEDCT_US_2015_03_01:126902008 +xref: UMLS_CUI:C0346239 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:5120 +name: Roseolovirus infectious disease +def: "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." [url:http\://en.wikipedia.org/wiki/Roseolovirus] +is_obsolete: true + +[Term] +id: DOID:5123 +name: mediastinum leiomyoma +synonym: "leiomyoma of mediastinum" EXACT [NCI2004_11_17:C6598] +xref: NCI:C6598 +xref: UMLS_CUI:C1334659 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5124 +name: fallopian tube leiomyoma +xref: NCI:C40127 +xref: UMLS_CUI:C1517115 +is_a: DOID:0060111 ! fallopian tube benign neoplasm + +[Term] +id: DOID:5125 +name: extrahepatic bile duct leiomyoma +synonym: "leiomyoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5855] +xref: NCI:C5855 +xref: UMLS_CUI:C1333507 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:5126 +name: central nervous system leiomyoma +synonym: "leiomyoma of CNS" EXACT [NCI2004_11_17:C6998] +xref: NCI:C6998 +xref: UMLS_CUI:C1334382 +is_a: DOID:0060090 ! central nervous system organ benign neoplasm + +[Term] +id: DOID:5127 +name: bizarre leiomyoma +synonym: "Atypical leiomyoma" EXACT [NCI2004_11_17:C4257] +synonym: "Pleomorphic leiomyoma" EXACT [NCI2004_11_17:C6513] +synonym: "Symplastic leiomyoma" EXACT [SNOMEDCT_2005_07_31:48897006] +xref: NCI:C4257 +xref: SNOMEDCT_US_2015_03_01:48897006 +xref: UMLS_CUI:C0334478 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5128 +name: deep leiomyoma +xref: NCI:C6512 +xref: UMLS_CUI:C1333266 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5129 +name: simple partial epilepsy +xref: ICD9CM:345.51 +xref: UMLS_CUI:C0154712 +is_a: DOID:2234 ! focal epilepsy + +[Term] +id: DOID:5132 +name: leiomyoma cutis +synonym: "Cutaneous leiomyoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254767008] +synonym: "leiomyoma of the skin" EXACT [NCI2004_11_17:C4482] +xref: NCI:C4482 +xref: SNOMEDCT_US_2015_03_01:254767008 +xref: UMLS_CUI:C0346064 +is_a: DOID:2438 ! dermis tumor + +[Term] +id: DOID:5133 +name: skin tumor of smooth muscle origin +synonym: "skin tumor of smooth muscle origin (disorder)" EXACT [SNOMEDCT_2005_07_31:254765000] +synonym: "Smooth Muscle skin neoplasm" EXACT [NCI2004_11_17:C4480] +is_obsolete: true + +[Term] +id: DOID:5134 +name: anus leiomyoma +synonym: "leiomyoma of anus" EXACT [NCI2004_11_17:C5608] +xref: NCI:C5608 +xref: UMLS_CUI:C1332266 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:5136 +name: lung leiomyoma +synonym: "pulmonary leiomyoma" EXACT [NCI2004_11_17:C5660] +xref: NCI:C5660 +xref: SNOMEDCT_US_2015_03_01:707374005 +xref: UMLS_CUI:C1334447 +is_a: DOID:3683 ! lung benign neoplasm + +[Term] +id: DOID:5137 +name: pericardium leiomyoma +synonym: "leiomyoma of Pericardium" EXACT [NCI2004_11_17:C6743] +xref: NCI:C6743 +xref: UMLS_CUI:C1335380 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5138 +name: leiomyomatosis +synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:75210008] +xref: MSH:D018231 +xref: NCI:C3748 +xref: SNOMEDCT_US_2015_03_01:189789002 +xref: SNOMEDCT_US_2015_03_01:75210008 +xref: UMLS_CUI:C0206654 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5139 +name: cellular leiomyoma +synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:90955001] +xref: NCI:C4256 +xref: SNOMEDCT_US_2015_03_01:90955001 +xref: UMLS_CUI:C0334477 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5140 +name: gallbladder leiomyoma +synonym: "leiomyoma of the gallbladder" EXACT [NCI2004_11_17:C5747] +xref: NCI:C5747 +xref: UMLS_CUI:C1333745 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5142 +name: vulvar leiomyoma +xref: NCI:C40326 +xref: UMLS_CUI:C1520087 +is_a: DOID:0060109 ! vulvar benign neoplasm + +[Term] +id: DOID:5143 +name: large bowel leiomyoma +synonym: "leiomyoma of large Intestine" EXACT [NCI2004_11_17:C5677] +xref: NCI:C5677 +xref: UMLS_CUI:C1333113 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:5146 +name: appendix leiomyoma +synonym: "Appendiceal leiomyoma" EXACT [NCI2004_11_17:C5514] +xref: NCI:C5514 +xref: UMLS_CUI:C1332327 +is_a: DOID:127 ! leiomyoma + +[Term] +id: DOID:5147 +name: dartoic leiomyoma +synonym: "Dartoic leiomyoma" EXACT [NCI2004_11_17:C4483] +synonym: "Dartoic myoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254770007] +xref: NCI:C4483 +xref: SNOMEDCT_US_2015_03_01:254770007 +xref: UMLS_CUI:C0346066 +is_a: DOID:0050622 ! reproductive organ benign neoplasm + +[Term] +id: DOID:5149 +name: epithelioid neurofibroma +synonym: "epithelioid Neurofibroma" EXACT [NCI2004_11_17:C6558] +synonym: "epithelioid neurofibroma (disorder)" EXACT [SNOMEDCT_2005_07_31:404032008] +xref: NCI:C6558 +xref: SNOMEDCT_US_2015_03_01:404032008 +xref: UMLS_CUI:C1275264 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:5150 +name: neurofibroma of gallbladder +synonym: "Neurofibroma of the gallbladder" EXACT [NCI2004_11_17:C5746] +xref: NCI:C5746 +xref: UMLS_CUI:C1333751 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:5151 +name: plexiform neurofibroma +xref: MSH:D018318 +xref: NCI:C3797 +xref: SNOMEDCT_US_2015_03_01:403818001 +xref: SNOMEDCT_US_2015_03_01:41252002 +xref: UMLS_CUI:C0206728 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:5152 +name: cellular neurofibroma +xref: NCI:C41427 +xref: UMLS_CUI:C1516371 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:5153 +name: atypical neurofibroma +xref: NCI:C41426 +xref: UMLS_CUI:C1510961 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:5154 +name: borna disease +def: "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." [url:http\://www.biomedcentral.com/1471-244X/10/70] +subset: zoonotic_infectious_disease +synonym: "Enzootic encephalomyelitis" EXACT [SNOMEDCT_2005_07_31:76851008] +xref: MSH:D001890 +xref: SNOMEDCT_US_2015_03_01:76851008 +xref: UMLS_CUI:C0006023 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:5155 +name: multiple mucosal neuroma +xref: NCI:C6559 +xref: UMLS_CUI:C1334828 +is_a: DOID:2001 ! neuroma + +[Term] +id: DOID:5157 +name: benign pleural mesothelioma +synonym: "Mesothelioma of Pleura" EXACT [NCI2004_11_17:C9351] +xref: NCI:C9351 +xref: UMLS_CUI:C1377913 +is_a: DOID:2645 ! benign mesothelioma + +[Term] +id: DOID:5158 +name: pleural cancer +alt_id: DOID:9917 +def: "A connective tissue cancer that located_in the pleura." [url:http\://en.wikipedia.org/wiki/Pleural_cavity] +synonym: "neoplasm of pleura" EXACT [SNOMEDCT_2005_07_31:126719004] +synonym: "Pleural tumor" EXACT [NCI2004_11_17:C3332] +xref: ICD10CM:C38.4 +xref: ICD9CM:163 +xref: ICD9CM:163.9 +xref: MSH:D010997 +xref: NCI:C3332 +xref: NCI:C3547 +xref: SNOMEDCT_US_2015_03_01:126719004 +xref: SNOMEDCT_US_2015_03_01:187880003 +xref: SNOMEDCT_US_2015_03_01:363433009 +xref: SNOMEDCT_US_2015_03_01:93966009 +xref: UMLS_CUI:C0032229 +xref: UMLS_CUI:C0153494 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:5160 +name: arteriosclerosis obliterans +synonym: "Arteriosclerosis obliterans (disorder)" EXACT [SNOMEDCT_2005_07_31:361133006] +synonym: "Arteriosclerosis obliterans (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:60625000] +xref: MSH:D001162 +xref: SNOMEDCT_US_2015_03_01:361133006 +xref: SNOMEDCT_US_2015_03_01:60625000 +xref: UMLS_CUI:C0003851 +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:5161 +name: Monckeberg arteriosclerosis +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:5162 +name: arteriolosclerosis +synonym: "Arteriolosclerosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:17941002] +xref: ICD10CM:I70 +xref: MSH:D050379 +xref: NCI:C35543 +xref: SNOMEDCT_US_2015_03_01:17941002 +xref: UMLS_CUI:C0878486 +is_a: DOID:2349 ! arteriosclerosis + +[Term] +id: DOID:5165 +name: uterine corpus sarcoma +def: "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] +synonym: "sarcoma of Corpus Uteri" EXACT [NCI2004_11_17:C6339] +synonym: "sarcoma of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:254877001] +xref: NCI:C6339 +xref: SNOMEDCT_US_2015_03_01:254877001 +xref: UMLS_CUI:C0338113 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:5166 +name: endometrial stromal tumor +synonym: "endometrial Stromal neoplasm" EXACT [NCI2004_11_17:C8384] +synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:68738004] +xref: MSH:D036821 +xref: SNOMEDCT_US_2015_03_01:446887007 +xref: SNOMEDCT_US_2015_03_01:68738004 +xref: UMLS_CUI:C0334695 +is_a: DOID:1380 ! endometrial cancer + +[Term] +id: DOID:5169 +name: ovarian endometrioid stromal sarcoma +xref: NCI:C40065 +xref: UMLS_CUI:C1518714 +is_a: DOID:2146 ! ovary sarcoma + +[Term] +id: DOID:5170 +name: vaginal endometrial stromal sarcoma +xref: NCI:C40270 +xref: UMLS_CUI:C3642329 +is_a: DOID:1901 ! vagina sarcoma + +[Term] +id: DOID:5171 +name: vaginal endometrial stromal tumor +xref: NCI:C40269 +xref: UMLS_CUI:C3642328 +is_a: DOID:119 ! vaginal cancer + +[Term] +id: DOID:5172 +name: endometrium carcinoma in situ +synonym: "carcinoma in situ of endometrium (disorder)" EXACT [SNOMEDCT_2005_07_31:92582009] +synonym: "endometrial carcinoma in situ" EXACT [NCI2004_11_17:C9071] +xref: ICD10CM:D07.0 +xref: SNOMEDCT_US_2015_03_01:189343006 +xref: SNOMEDCT_US_2015_03_01:92582009 +xref: UMLS_CUI:C0346191 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:5176 +name: renal Wilms' tumor +synonym: "Nonanaplastic renal Wilm's tumor" EXACT [NCI2004_11_17:C6951] +synonym: "nonanaplastic renal wilms tumor" RELATED [] +xref: NCI:C6951 +xref: UMLS_CUI:C1335062 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:5178 +name: metachronous kidney Wilms' tumor +synonym: "metachronous Wilms tumor of the kidney" RELATED [] +xref: NCI:C38158 +xref: UMLS_CUI:C1334705 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:5179 +name: mixed cell type kidney Wilms' tumor +synonym: "mixed cell type renal Wilms tumor" EXACT [NCI2004_11_17:C9149] +xref: NCI:C9149 +xref: UMLS_CUI:C0279611 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:518 +name: scrotum neoplasm +alt_id: DOID:13158 +synonym: "malignant Scrotal neoplasm" EXACT [NCI2004_11_17:C3560] +synonym: "malignant tumor of scrotum (disorder)" EXACT [SNOMEDCT_2005_07_31:363454002] +synonym: "malignant tumour of scrotum" EXACT [SNOMEDCT_2005_07_31:154538005] +synonym: "neoplasm of scrotum (disorder)" EXACT [SNOMEDCT_2005_07_31:126905005] +synonym: "Scrotal Ca" EXACT [SNOMEDCT_2005_07_31:93999006] +synonym: "Scrotal tumor" EXACT [NCI2004_11_17:C4380] +synonym: "scrotum cancer" EXACT [] +xref: ICD10CM:C63.2 +xref: ICD9CM:187.7 +xref: NCI:C3560 +xref: NCI:C4380 +xref: SNOMEDCT_US_2015_03_01:126905005 +xref: SNOMEDCT_US_2015_03_01:154538005 +xref: SNOMEDCT_US_2015_03_01:363454002 +xref: SNOMEDCT_US_2015_03_01:93999006 +xref: UMLS_CUI:C0153604 +xref: UMLS_CUI:C0341790 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:5182 +name: blastema predominant kidney Wilms' tumor +synonym: "blastema predominant kidney adenosarcoma" EXACT [] +synonym: "Blastema Predominant renal Wilms tumor" EXACT [NCI2004_11_17:C9147] +xref: NCI:C9147 +xref: UMLS_CUI:C0279609 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:5183 +name: hereditary Wilms' tumor +def: "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour." [url:http\://www.cancerindex.org/geneweb/X210202.htm] +synonym: "Hereditary Wilms tumor" EXACT [NCI2004_11_17:C8496] +synonym: "hereditary Wilms' tumor" RELATED [] +synonym: "WT1" EXACT [] +xref: NCI:C8496 +xref: UMLS_CUI:C0677779 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:5184 +name: recurrent nephroblastoma +def: "A nephroblastoma that recurs over time." [url:https\://health.google.com/health/ref/Wilms+tumor] +synonym: "relapsed renal Wilms' tumor" EXACT [NCI2004_11_17:C7845] +is_obsolete: true + +[Term] +id: DOID:5185 +name: anaplastic renal Wilms' tumor +def: "A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp] +synonym: "anaplastic renal Wilm's tumor" EXACT [NCI2004_11_17:C6952] +synonym: "anaplastic renal Wilms tumor" RELATED [] +is_obsolete: true + +[Term] +id: DOID:5189 +name: epithelial predominant Wilms' tumor +synonym: "epithelial predominant kidney adenosarcoma" EXACT [] +synonym: "epithelial Predominant renal Wilms tumor" EXACT [NCI2004_11_17:C9146] +xref: NCI:C9146 +xref: UMLS_CUI:C0279608 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:519 +name: aortitis +synonym: "Aortitis (disorder)" EXACT [SNOMEDCT_2005_07_31:70933002] +synonym: "Aortitis NOS" EXACT [MTHICD9_2006:447.6] +xref: ICD10CM:I77.6 +xref: MSH:D001025 +xref: NCI:C97085 +xref: SNOMEDCT_US_2015_03_01:195368003 +xref: SNOMEDCT_US_2015_03_01:70933002 +xref: UMLS_CUI:C0003509 +is_a: DOID:520 ! aortic disease + +[Term] +id: DOID:5190 +name: cervical Wilms' tumor +def: "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney." [url:http\://www.ncbi.nlm.nih.gov/pubmed/10620450] +synonym: "cervical Wilms tumor" RELATED [] +xref: NCI:C40236 +xref: UMLS_CUI:C1516437 +is_a: DOID:4112 ! cervical carcinosarcoma + +[Term] +id: DOID:5191 +name: stromal predominant kidney Wilms' tumor +synonym: "Stromal Predominant renal Wilms tumor" EXACT [NCI2004_11_17:C9148] +xref: NCI:C9148 +xref: UMLS_CUI:C0279610 +is_a: DOID:2154 ! nephroblastoma + +[Term] +id: DOID:5193 +name: nodular ganglioneuroblastoma +xref: NCI:C42058 +xref: UMLS_CUI:C1517445 +is_a: DOID:4163 ! ganglioneuroblastoma + +[Term] +id: DOID:5194 +name: intermixed schwannian stroma-rich ganglioneuroblastoma +xref: NCI:C42057 +xref: UMLS_CUI:C1517444 +is_a: DOID:4163 ! ganglioneuroblastoma + +[Term] +id: DOID:5195 +name: peripheral nervous system ganglioneuroblastoma +synonym: "PNS Ganglioneuroblastoma" EXACT [NCI2004_11_17:C6594] +xref: NCI:C6594 +xref: UMLS_CUI:C1335387 +is_a: DOID:4163 ! ganglioneuroblastoma + +[Term] +id: DOID:5196 +name: fallopian tube adenomatoid tumor +xref: NCI:C40129 +xref: UMLS_CUI:C1517110 +is_a: DOID:0060111 ! fallopian tube benign neoplasm + +[Term] +id: DOID:5199 +name: ureteral obstruction +xref: ICD9CM:593.4 +xref: SNOMEDCT_US_2015_03_01:197807001 +xref: UMLS_CUI:C0029866 +is_a: DOID:1426 ! ureteral disease +is_a: DOID:5200 ! urinary tract obstruction + +[Term] +id: DOID:520 +name: aortic disease +def: "An artery disease that is characterized by degeneration of the cells composing the aortic wall." [url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html, url:https\://www.cedars-sinai.edu/Patients/Programs-and-Services/Heart-Institute/Conditions/Aortic-Disease.aspx#3] +synonym: "aortic disorder" EXACT [CSP2005:0571-0627] +synonym: "disorder of the aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:47040006] +xref: MSH:D001018 +xref: NCI:C101253 +xref: SNOMEDCT_US_2015_03_01:47040006 +xref: UMLS_CUI:C0003493 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:5200 +name: urinary tract obstruction +synonym: "Obstructive Uropathy" EXACT [NCI2004_11_17:C3675] +synonym: "urinary obstruction" EXACT [ICD9CM_2006:599.6] +xref: ICD10CM:N13.9 +xref: ICD9CM:599.6 +xref: ICD9CM:599.60 +xref: NCI:C3675 +xref: NCI:C79805 +xref: SNOMEDCT_US_2015_03_01:197936002 +xref: SNOMEDCT_US_2015_03_01:266567006 +xref: SNOMEDCT_US_2015_03_01:266636004 +xref: SNOMEDCT_US_2015_03_01:7163005 +xref: UMLS_CUI:C0178879 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:5204 +name: fructose-1,6-bisphosphatase deficiency +def: "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis." [url:http\://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, url:http\://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency, url:http\://omim.org/entry/229700] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "fructose 1 phosphate aldolase deficiency" EXACT [CSP2005:1849-3494] +synonym: "fructose-1,6-diphosphatase deficiency" EXACT [] +xref: ICD10CM:E74.19 +xref: MSH:D015319 +xref: OMIM:229700 +xref: SNOMEDCT_US_2015_03_01:28183005 +xref: UMLS_CUI:C0016756 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:5205 +name: inborn errors fructose metabolism +is_obsolete: true + +[Term] +id: DOID:5207 +name: monodermal teratoma +synonym: "Monodermal teratoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399632009] +synonym: "Ovarian Monodermal teratoma" EXACT [NCI2004_11_17:C7286] +xref: NCI:C7286 +xref: SNOMEDCT_US_2015_03_01:399632009 +xref: UMLS_CUI:C1302569 +is_a: DOID:5563 ! malignant teratoma +is_a: DOID:5567 ! ovarian germ cell teratoma + +[Term] +id: DOID:5208 +name: malignant struma ovarii +synonym: "Struma ovarii, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18854008] +xref: NCI:C4291 +xref: SNOMEDCT_US_2015_03_01:18854008 +xref: UMLS_CUI:C0334525 +is_a: DOID:2640 ! struma ovarii + +[Term] +id: DOID:5209 +name: benign struma ovarii +xref: NCI:C40012 +xref: UMLS_CUI:C1511104 +is_a: DOID:2640 ! struma ovarii + +[Term] +id: DOID:5212 +name: congenital disorder of glycosylation +def: "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [] +xref: MSH:D018981 +xref: NCI:C84615 +xref: OMIM:212065 +xref: OMIM:212066 +xref: ORDO:137 +xref: SNOMEDCT_US_2015_03_01:238049009 +xref: UMLS_CUI:C0282577 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:5213 +name: chronic inflammatory demyelinating polyradiculoneuropathy +synonym: "chronic inflammatory demyelinating polyradiculoneuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:128209004] +xref: MSH:D020277 +xref: NCI:C84636 +xref: SNOMEDCT_US_2015_03_01:128209004 +xref: UMLS_CUI:C0393819 +is_a: DOID:4308 ! polyradiculoneuropathy +is_a: DOID:5214 ! demyelinating polyneuropathy + +[Term] +id: DOID:5214 +name: demyelinating polyneuropathy +synonym: "peripheral demyelinating neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:23414001] +xref: NCI:C27062 +xref: SNOMEDCT_US_2015_03_01:23414001 +xref: UMLS_CUI:C0270922 +is_a: DOID:1389 ! polyneuropathy + +[Term] +id: DOID:5215 +name: ephemeral fever +def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." [url:http\://en.wikipedia.org/wiki/Bovine_ephemeral_fever, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf] +synonym: "Bovine ephemeral fever" EXACT [] +synonym: "Ephemeral fever of cattle" EXACT [SNOMEDCT_2005_07_31:69869002] +synonym: "Three-Day Sickness" EXACT [] +synonym: "Three-Day Stiffsickness" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5221 +name: chronic polyneuropathy +xref: NCI:C36071 +xref: UMLS_CUI:C1167650 +is_a: DOID:1389 ! polyneuropathy + +[Term] +id: DOID:5222 +name: acute necrotizing encephalitis +synonym: "acute Necrotizing Encephalitis" EXACT [NCI2004_11_17:C35383] +synonym: "acute necrotizing encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:111897007] +xref: MSH:D004684 +xref: NCI:C35383 +xref: SNOMEDCT_US_2015_03_01:111897007 +xref: UMLS_CUI:C0338418 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:5223 +name: infertility +xref: MSH:D007246 +xref: NCI:C3836 +xref: SNOMEDCT_US_2015_03_01:15296000 +xref: SNOMEDCT_US_2015_03_01:162186008 +xref: SNOMEDCT_US_2015_03_01:289179008 +xref: SNOMEDCT_US_2015_03_01:8619003 +xref: UMLS_CUI:C0021359 +is_a: DOID:15 ! reproductive system disease + +[Term] +id: DOID:5224 +name: acute hemorrhagic encephalitis +xref: NCI:C35796 +xref: UMLS_CUI:C1332149 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:5225 +name: von Economo's disease +synonym: "Encephalitis Lethargica" EXACT [NCI2004_11_17:C26761] +synonym: "Encephalitis Lethargica" EXACT [MTH:NOCODE] +synonym: "Encephalitis lethargica" EXACT [SNOMEDCT_2005_07_31:186500003] +synonym: "Encephalitis lethargica (disorder)" EXACT [SNOMEDCT_2005_07_31:186499007] +synonym: "Encephalitis lethargica (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:20411005] +synonym: "von Economo disease" EXACT [] +xref: ICD10CM:A85.8 +xref: NCI:C26761 +xref: SNOMEDCT_US_2015_03_01:186499007 +xref: SNOMEDCT_US_2015_03_01:186500003 +xref: SNOMEDCT_US_2015_03_01:20411005 +xref: UMLS_CUI:C0014040 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:5226 +name: vaginal blue nevus +is_obsolete: true + +[Term] +id: DOID:5227 +name: cellular blue nevus +synonym: "cellular blue nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:88006009] +synonym: "cellular blue nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254808005] +synonym: "cellular Blue nevus of the skin" EXACT [NCI2004_11_17:C4241] +is_obsolete: true + +[Term] +id: DOID:5228 +name: common blue nevus +synonym: "Blue nevus of Jadassohn-Tieche" RELATED [] +synonym: "Common Blue nevus" EXACT [NCI2004_11_17:C4496] +synonym: "Common blue nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254807000] +is_obsolete: true + +[Term] +id: DOID:5230 +name: hepatoerythropoietic porphyria +xref: MSH:D017121 +xref: NCI:C84754 +xref: UMLS_CUI:C0162569 +is_a: DOID:3133 ! acute porphyria + +[Term] +id: DOID:5231 +name: peritoneal and retroperitoneal tumors +is_obsolete: true + +[Term] +id: DOID:5232 +name: aortic valve prolapse +xref: MSH:D001023 +xref: UMLS_CUI:C0003505 +is_a: DOID:62 ! aortic valve disease + +[Term] +id: DOID:5233 +name: glomangiosarcoma +synonym: "malignant Glomus neoplasm" EXACT [NCI2004_11_17:C4221] +xref: NCI:C4221 +xref: SNOMEDCT_US_2015_03_01:128908003 +xref: SNOMEDCT_US_2015_03_01:13875003 +xref: UMLS_CUI:C1266111 +is_a: DOID:2431 ! glomus tumor + +[Term] +id: DOID:5236 +name: subungual glomus tumor +synonym: "Subungual Glomus tumor" EXACT [NCI2004_11_17:C36079] +xref: NCI:C36079 +xref: SNOMEDCT_US_2015_03_01:403973004 +xref: UMLS_CUI:C1304510 +is_a: DOID:2431 ! glomus tumor + +[Term] +id: DOID:5238 +name: benign perivascular tumor +xref: NCI:C6529 +xref: UMLS_CUI:C1332532 +is_a: DOID:0060091 ! cardiovascular organ benign neoplasm + +[Term] +id: DOID:5239 +name: glomus tumor of uncertain malignant potential +is_obsolete: true + +[Term] +id: DOID:524 +name: central nervous system AIDS arteritis +def: "A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [url:http\://jnnp.bmj.com/content/80/8/831.long] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:5240 +name: retinal hemangioblastoma +xref: NCI:C39783 +xref: UMLS_CUI:C1514915 +is_a: DOID:4645 ! retinal cancer +is_a: DOID:5241 ! hemangioblastoma + +[Term] +id: DOID:5241 +name: hemangioblastoma +synonym: "Capillary Hemangioblastoma" EXACT [NCI2004_11_17:C3801] +xref: MSH:D018325 +xref: NCI:C3801 +xref: SNOMEDCT_US_2015_03_01:81201000 +xref: UMLS_CUI:C0206734 +is_a: DOID:255 ! hemangioma + +[Term] +id: DOID:5242 +name: resectable cholangiocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:5244 +name: visual alteration +is_obsolete: true + +[Term] +id: DOID:5245 +name: recurrent cholangiocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:5246 +name: hilar cholangiocellular carcinoma +xref: NCI2009_04D:C36077 +is_a: DOID:4947 ! cholangiocarcinoma + +[Term] +id: DOID:5247 +name: liver fluke-related cholangiocarcinoma +synonym: "Opisthorchis Viverrini-Related Cholangiocellular carcinoma" EXACT [NCI2004_11_17:C27769] +is_obsolete: true + +[Term] +id: DOID:5248 +name: parasite-related carcinoma +is_obsolete: true + +[Term] +id: DOID:525 +name: central nervous system vasculitis +xref: MSH:D020293 +xref: NCI:C84622 +xref: UMLS_CUI:C0751878 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:5250 +name: non-resectable cholangiocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:5251 +name: inflammatory leiomyosarcoma +xref: NCI:C27495 +xref: UMLS_CUI:C1334179 +is_a: DOID:1967 ! leiomyosarcoma + +[Term] +id: DOID:5252 +name: leiomyosarcoma recurrent +synonym: "relapsed leiomyosarcoma" EXACT [NCI2004_11_17:C8815] +is_obsolete: true + +[Term] +id: DOID:5253 +name: conventional leiomyosarcoma +xref: NCI:C9428 +xref: UMLS_CUI:C1333157 +is_a: DOID:1967 ! leiomyosarcoma + +[Term] +id: DOID:5254 +name: central nervous system leiomyosarcoma +synonym: "leiomyosarcoma of the CNS" EXACT [NCI2004_11_17:C6999] +xref: NCI:C6999 +xref: UMLS_CUI:C1334385 +is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor + +[Term] +id: DOID:5255 +name: leiomyosarcoma nonmetastatic +synonym: "Non-metastatic leiomyosarcoma" EXACT [NCI2004_11_17:C8814] +is_obsolete: true + +[Term] +id: DOID:5258 +name: granular cell leiomyosarcoma +xref: NCI:C27494 +xref: UMLS_CUI:C1333871 +is_a: DOID:1967 ! leiomyosarcoma + +[Term] +id: DOID:5259 +name: colon leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of colon that is located_in the colon." [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] +synonym: "Colonic leiomyosarcoma" EXACT [NCI2004_11_17:C5494] +xref: NCI:C5494 +xref: UMLS_CUI:C1333093 +is_a: DOID:5260 ! colon sarcoma + +[Term] +id: DOID:526 +name: Human immunodeficiency virus infectious disease +def: "A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands." [url:http\://en.wikipedia.org/wiki/HIV, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000602.htm] +subset: zoonotic_infectious_disease +synonym: "HIV infection" EXACT [CSP2005:1560-6305] +xref: ICD10CM:B20 +xref: ICD10CM:B20-B20 +xref: ICD9CM:042 +xref: ICD9CM:042-042.99 +xref: MSH:D015658 +xref: NCI:C3108 +xref: SNOMEDCT_US_2015_03_01:123321001 +xref: SNOMEDCT_US_2015_03_01:186705005 +xref: SNOMEDCT_US_2015_03_01:187438009 +xref: SNOMEDCT_US_2015_03_01:187453001 +xref: SNOMEDCT_US_2015_03_01:86406008 +xref: UMLS_CUI:C0019693 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:5260 +name: colon sarcoma +def: "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon." [url:http\://www3.interscience.wiley.com/journal/76043/abstract] +synonym: "Colonic sarcoma" EXACT [NCI2004_11_17:C5495] +xref: NCI:C5495 +xref: UMLS_CUI:C1333098 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:5261 +name: heart leiomyosarcoma +synonym: "leiomyosarcoma of Heart" EXACT [NCI2004_11_17:C5364] +xref: NCI:C5364 +xref: UMLS_CUI:C1332848 +is_a: DOID:5262 ! heart sarcoma + +[Term] +id: DOID:5262 +name: heart sarcoma +def: "A sarcoma and malignant neoplasm of heart that is located_in the heart." [url:http\://www.urmc.rochester.edu/encyclopedia/content.cfm?pageid=P06597] +synonym: "cardiac sarcoma" EXACT [] +synonym: "sarcoma of Heart" EXACT [NCI2004_11_17:C7723] +xref: NCI:C7723 +xref: UMLS_CUI:C0238152 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:5263 +name: ovary leiomyosarcoma +synonym: "leiomyosarcoma of Ovary" EXACT [NCI2004_11_17:C5234] +xref: NCI:C5234 +xref: UMLS_CUI:C1335163 +is_a: DOID:2146 ! ovary sarcoma + +[Term] +id: DOID:5264 +name: epithelioid leiomyosarcoma +xref: MSH:D007890 +xref: NCI:C3700 +xref: SNOMEDCT_US_2015_03_01:42392001 +xref: UMLS_CUI:C0205815 +is_a: DOID:1967 ! leiomyosarcoma + +[Term] +id: DOID:5265 +name: lung leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of lung that is located_in the lung." [url:www.chestjournal.org/cgi/reprint/56/5/452.pdf] +synonym: "pulmonary leiomyosarcoma" EXACT [NCI2004_11_17:C5667] +xref: NCI:C5667 +xref: UMLS_CUI:C1334448 +is_a: DOID:2784 ! lung sarcoma + +[Term] +id: DOID:5266 +name: leiomyosarcoma metastatic +is_obsolete: true + +[Term] +id: DOID:5267 +name: anus leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of the anus that is located_in the anus." [url:http\://www.springerlink.com/content/t57853114066u8n8/] +synonym: "leiomyosarcoma of anus" EXACT [NCI2004_11_17:C5599] +xref: NCI:C5599 +xref: UMLS_CUI:C1332267 +is_a: DOID:4067 ! anus sarcoma + +[Term] +id: DOID:5268 +name: myxoid leiomyosarcoma +synonym: "Myxoid leiomyosarcoma" EXACT [SNOMEDCT_2005_07_31:189792003] +synonym: "Myxoid leiomyosarcoma" EXACT [NCI2004_11_17:C3701] +synonym: "Myxoid leiomyosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:16090008] +xref: MSH:D007890 +xref: NCI:C3701 +xref: SNOMEDCT_US_2015_03_01:16090008 +xref: SNOMEDCT_US_2015_03_01:189792003 +xref: UMLS_CUI:C0205816 +is_a: DOID:1967 ! leiomyosarcoma + +[Term] +id: DOID:5271 +name: small intestine leiomyosarcoma +def: "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] +synonym: "leiomyosarcoma of the small Bowel" EXACT [NCI2004_11_17:C7085] +synonym: "smooth muscle connective tissue tumor" RELATED [] +xref: NCI:C7085 +xref: UMLS_CUI:C0920305 +is_a: DOID:5272 ! small intestinal sarcoma + +[Term] +id: DOID:5272 +name: small intestinal sarcoma +def: "A sarcoma and malignant tumor of small intestine that is located_in the small intestine." [url:http\://www.cancer.gov/cancertopics/types/smallintestine] +synonym: "sarcoma of the Small Intestine" EXACT [NCI2004_11_17:C5335] +xref: NCI:C5335 +xref: UMLS_CUI:C1336007 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:5273 +name: cutaneous leiomyosarcoma +synonym: "Cutaneous leiomyosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254771006] +synonym: "leiomyosarcoma of the skin" EXACT [NCI2004_11_17:C4484] +xref: NCI:C4484 +xref: SNOMEDCT_US_2015_03_01:254771006 +xref: UMLS_CUI:C0346067 +is_a: DOID:2687 ! skin sarcoma + +[Term] +id: DOID:5274 +name: malignant dermis tumor +synonym: "malignant neoplasm of Dermis" EXACT [NCI2004_11_17:C4574] +synonym: "malignant tumor of dermis (disorder)" EXACT [SNOMEDCT_2005_07_31:255096006] +xref: NCI:C4574 +xref: SNOMEDCT_US_2015_03_01:255096006 +xref: UMLS_CUI:C0346811 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:5275 +name: gallbladder leiomyosarcoma +def: "A gallbladder sarcoma that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma, url:http\://www.ncbi.nlm.nih.gov/pubmed/2278917] +synonym: "leiomyosarcoma of the gallbladder" EXACT [NCI2004_11_17:C5841] +xref: NCI:C5841 +xref: UMLS_CUI:C1333746 +is_a: DOID:4058 ! gallbladder sarcoma + +[Term] +id: DOID:5276 +name: esophagus leiomyosarcoma +synonym: "leiomyosarcoma of esophagus" EXACT [NCI2004_11_17:C5334] +xref: NCI:C5334 +xref: UMLS_CUI:C1333454 +is_a: DOID:1114 ! esophagus sarcoma + +[Term] +id: DOID:5278 +name: pediatric leiomyosarcoma +is_obsolete: true + +[Term] +id: DOID:528 +name: hydrarthrosis +xref: ICD9CM:719.08 +xref: SNOMEDCT_US_2015_03_01:156579009 +xref: SNOMEDCT_US_2015_03_01:202370001 +xref: UMLS_CUI:C0158157 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:5280 +name: gastric leiomyosarcoma +xref: NCI:C27200 +xref: SNOMEDCT_US_2015_03_01:447785000 +xref: UMLS_CUI:C0744295 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:5281 +name: malignant mesenchymal neoplasm of the stomach +synonym: "malignant mesenchymal neoplasm of stomach" EXACT [NCI2004_11_17:C27439] +is_obsolete: true + +[Term] +id: DOID:5282 +name: prostate leiomyosarcoma +def: "A prostate sarcoma that is located_in the prostate." [url:http\://www3.interscience.wiley.com/journal/112677325/abstract] +synonym: "leiomyosarcoma of the prostate" EXACT [NCI2004_11_17:C5526] +xref: NCI:C5526 +xref: UMLS_CUI:C1335511 +is_a: DOID:4054 ! prostate sarcoma + +[Term] +id: DOID:5283 +name: vagina leiomyosarcoma +synonym: "leiomyosarcoma of the vagina" EXACT [NCI2004_11_17:C6326] +xref: NCI:C6326 +xref: UMLS_CUI:C1336940 +is_a: DOID:1901 ! vagina sarcoma + +[Term] +id: DOID:5284 +name: retroperitoneal leiomyosarcoma +xref: NCI2009_04D:C27904 +is_a: DOID:12341 ! retroperitoneal sarcoma + +[Term] +id: DOID:5285 +name: breast leiomyosarcoma +synonym: "leiomyosarcoma of the breast" EXACT [NCI2004_11_17:C5186] +xref: NCI:C5186 +xref: UMLS_CUI:C1332631 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:5286 +name: vulvar leiomyosarcoma +xref: NCI2009_04D:C40318 +is_a: DOID:2096 ! vulvar sarcoma + +[Term] +id: DOID:5287 +name: kidney leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney." [url:http\://www.sage-hindawi.com/journals/pri/2010/652398.html] +synonym: "leiomyosarcoma of kidney" EXACT [NCI2004_11_17:C6183] +xref: NCI:C6183 +xref: UMLS_CUI:C1335743 +is_a: DOID:4242 ! kidney sarcoma + +[Term] +id: DOID:5288 +name: larynx leiomyosarcoma +def: "A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx." [url:http\://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/] +synonym: "leiomyosarcoma of Larynx" EXACT [NCI2004_11_17:C6022] +xref: NCI:C6022 +xref: UMLS_CUI:C1334371 +is_a: DOID:2877 ! larynx sarcoma + +[Term] +id: DOID:5289 +name: uterus leiomyosarcoma +def: "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] +synonym: "leiomyosarcoma of Corpus Uteri" EXACT [NCI2004_11_17:C6340] +xref: NCI:C6340 +xref: SNOMEDCT_US_2015_03_01:447389009 +xref: UMLS_CUI:C0280631 +is_a: DOID:5165 ! uterine corpus sarcoma + +[Term] +id: DOID:529 +name: blepharospasm +def: "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Blepharospasm (disorder)" EXACT [SNOMEDCT_2005_07_31:59026006] +xref: ICD10CM:G24.5 +xref: ICD9CM:333.81 +xref: MSH:D001764 +xref: OMIM:606798 +xref: SNOMEDCT_US_2015_03_01:155009007 +xref: SNOMEDCT_US_2015_03_01:267690000 +xref: UMLS_CUI:C0005747 +is_a: DOID:0050836 ! focal dystonia + +[Term] +id: DOID:5290 +name: uterine corpus smooth muscle neoplasm +is_obsolete: true + +[Term] +id: DOID:5291 +name: adult leiomyosarcoma +is_obsolete: true + +[Term] +id: DOID:5292 +name: mediastinum leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels." [url:http\://ejcts.ctsnetjournals.org/cgi/content/full/21/5/943] +synonym: "leiomyosarcoma of mediastinum" EXACT [NCI2004_11_17:C6619] +xref: NCI:C6619 +xref: UMLS_CUI:C1334660 +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:5293 +name: extrahepatic bile duct leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver." [url:http\://www.cancer.gov/dictionary/?CdrID=44498, url:http\://www.cancer.gov/dictionary/?CdrID=46027] +synonym: "leiomyosarcoma of the bile duct" EXACT [NCI2004_11_17:C5848] +xref: NCI:C5848 +xref: UMLS_CUI:C1333508 +is_a: DOID:4064 ! bile duct sarcoma + +[Term] +id: DOID:5294 +name: vessel leiomyosarcoma +synonym: "leiomyosarcoma of Vessels" EXACT [NCI2004_11_17:C5387] +is_obsolete: true + +[Term] +id: DOID:5295 +name: intestinal disease +alt_id: DOID:10759 +alt_id: DOID:11222 +alt_id: DOID:11789 +alt_id: DOID:8531 +alt_id: DOID:8558 +alt_id: DOID:8591 +def: "A gastrointestinal system disease that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] +xref: ICD10CM:K63.9 +xref: ICD9CM:569.9 +xref: MSH:D007410 +xref: NCI:C26801 +xref: SNOMEDCT_US_2015_03_01:155629009 +xref: SNOMEDCT_US_2015_03_01:197266001 +xref: SNOMEDCT_US_2015_03_01:266483008 +xref: SNOMEDCT_US_2015_03_01:85919009 +xref: UMLS_CUI:C0021831 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:5296 +name: liver leiomyosarcoma +def: "A leiomyosarcoma and sarcoma of liver that is located_in the liver." [url:http\://www.cancer.gov/dictionary/?CdrID=46027] +synonym: "leiomyosarcoma of the Liver" EXACT [NCI2004_11_17:C5756] +xref: NCI:C5756 +xref: UMLS_CUI:C1333969 +is_a: DOID:270 ! liver sarcoma + +[Term] +id: DOID:5297 +name: rectum leiomyosarcoma +def: "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum." [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] +synonym: "leiomyosarcoma of rectum" EXACT [NCI2004_11_17:C5549] +xref: NCI:C5549 +xref: UMLS_CUI:C1335683 +is_a: DOID:1995 ! rectum sarcoma + +[Term] +id: DOID:5299 +name: endometrial clear cell adenocarcinoma +synonym: "Clear cell carcinoma of Endometrium" EXACT [NCI2004_11_17:C8028] +xref: NCI:C8028 +xref: UMLS_CUI:C0279765 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:53 +name: pituitary gland disease +alt_id: DOID:2445 +alt_id: DOID:8713 +alt_id: DOID:8714 +def: "An endocrine system disease that is located_in the pituitary gland." [url:http\://en.wikipedia.org/wiki/Pituitary_disease] +synonym: "pituitary disease" EXACT [] +xref: ICD9CM:253.1 +xref: UMLS_CUI:C0029493 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:530 +name: eyelid disease +def: "An adnexa disease that is located_in the eyelid." [url:http\://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit] +xref: ICD10CM:H02.9 +xref: ICD9CM:374.9 +xref: MSH:D005141 +xref: NCI:C26768 +xref: SNOMEDCT_US_2015_03_01:155180006 +xref: SNOMEDCT_US_2015_03_01:193970000 +xref: SNOMEDCT_US_2015_03_01:267737009 +xref: SNOMEDCT_US_2015_03_01:60113004 +xref: UMLS_CUI:C0015423 +is_a: DOID:0050815 ! eye adnexa disease + +[Term] +id: DOID:5301 +name: fallopian tube clear cell adenocarcinoma +synonym: "Clear cell carcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6280] +xref: NCI:C6280 +xref: UMLS_CUI:C1333591 +is_a: DOID:3706 ! fallopian tube adenocarcinoma + +[Term] +id: DOID:5302 +name: uterine ligament clear cell adenocarcinoma +xref: NCI:C40139 +xref: UMLS_CUI:C1519867 +is_a: DOID:3700 ! uterine ligament adenocarcinoma + +[Term] +id: DOID:5303 +name: cervical clear cell adenocarcinoma +synonym: "Clear cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C6344] +xref: NCI:C6344 +xref: UMLS_CUI:C1332912 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:5304 +name: ovarian clear cell adenocarcinoma +xref: NCI:C40078 +xref: UMLS_CUI:C1518693 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:5305 +name: malignant ovarian clear cell neoplasm +is_obsolete: true + +[Term] +id: DOID:5306 +name: bladder clear cell adenocarcinoma +synonym: "bladder Mesonephric adenocarcinoma" EXACT [NCI2004_11_17:C6179] +synonym: "clear cell adenocarcinoma of bladder" RELATED [] +xref: NCI:C6179 +xref: UMLS_CUI:C1332557 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:5307 +name: urethra clear cell adenocarcinoma +synonym: "Clear cell adenocarcinoma of the urethra" EXACT [NCI2004_11_17:C6172] +xref: NCI:C6172 +xref: UMLS_CUI:C1336886 +is_a: DOID:4910 ! urethra adenocarcinoma + +[Term] +id: DOID:5308 +name: ampulla of Vater clear cell adenocarcinoma +xref: NCI:C27414 +xref: UMLS_CUI:C1332246 +is_a: DOID:3502 ! ampulla of Vater adenocarcinoma + +[Term] +id: DOID:5309 +name: epithelial-myoepithelial carcinoma +xref: NCI:C4199 +xref: SNOMEDCT_US_2015_03_01:189722008 +xref: SNOMEDCT_US_2015_03_01:9618003 +xref: UMLS_CUI:C0334392 +is_a: DOID:8850 ! salivary gland cancer + +[Term] +id: DOID:5310 +name: glycogen-rich clear cell breast carcinoma +alt_id: DOID:5311 +synonym: "Glycogen-Rich carcinoma" EXACT [NCI2004_11_17:C4153] +synonym: "glycogen-rich carcinoma" EXACT [] +synonym: "Glycogen-rich carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:74280008] +xref: NCI:C40368 +xref: NCI:C4153 +xref: SNOMEDCT_US_2015_03_01:189656007 +xref: SNOMEDCT_US_2015_03_01:74280008 +xref: UMLS_CUI:C0334319 +xref: UMLS_CUI:C1512224 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:5312 +name: miscellaneous mesenchymal neoplasm +is_obsolete: true + +[Term] +id: DOID:5313 +name: vulvar alveolar soft part sarcoma +def: "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva." [url:http\://www.ncbi.nlm.nih.gov/pubmed/7060986] +xref: NCI:C40320 +xref: UMLS_CUI:C1520069 +is_a: DOID:2096 ! vulvar sarcoma + +[Term] +id: DOID:5314 +name: alveolar soft part sarcoma recurrent +def: "An alveolar soft part sarcoma that recurs over time." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] +synonym: "relapsed Alveolar soft Part sarcoma" EXACT [NCI2004_11_17:C8798] +is_obsolete: true + +[Term] +id: DOID:5316 +name: alveolar soft part sarcoma nonmetastatic +def: "An alveolar soft part sarcoma that has not spread to other parts of the body." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] +synonym: "Non-metastatic Alveolar soft Part sarcoma" EXACT [NCI2004_11_17:C8797] +is_obsolete: true + +[Term] +id: DOID:5317 +name: alveolar soft part sarcoma metastatic +def: "An alveolar soft part sarcoma that has spread to other parts of the body." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] +is_obsolete: true + +[Term] +id: DOID:5323 +name: fallopian tube serous tumor +is_obsolete: true + +[Term] +id: DOID:5324 +name: fallopian tube germ cell cancer +synonym: "fallopian tube germ cell neoplasm" RELATED [] +xref: NCI:C40130 +xref: UMLS_CUI:C1517114 +is_a: DOID:1964 ! fallopian tube cancer + +[Term] +id: DOID:5325 +name: Roberts syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE" EXACT [] +xref: MSH:C535687 +xref: NCI:C4681 +xref: OMIM:268300 +xref: SNOMEDCT_US_2015_03_01:48718006 +xref: UMLS_CUI:C0392475 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:5326 +name: Partial recent retinal detachment with single defect +synonym: "Partial recent retinal detachment with single defect (disorder)" EXACT [SNOMEDCT_2005_07_31:3598000] +synonym: "Recent retinal detachment, partial, with single defect" EXACT [ICD9CM_2006:361.01] +is_obsolete: true + +[Term] +id: DOID:5327 +name: retinal detachment +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:H33.2 +xref: ICD9CM:361.9 +xref: MSH:D012163 +xref: NCI:C26874 +xref: OMIM:312530 +xref: SNOMEDCT_US_2015_03_01:155103005 +xref: SNOMEDCT_US_2015_03_01:193347002 +xref: SNOMEDCT_US_2015_03_01:42059000 +xref: UMLS_CUI:C0035305 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:5328 +name: retinal detachment and defect +synonym: "Retinal detachment with defect NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193328000] +synonym: "Retinal detachment with retinal defect" EXACT [ICD9CM_2006:361.0] +synonym: "Retinal detachment with retinal defect (disorder)" EXACT [SNOMEDCT_2005_07_31:56202001] +synonym: "Retinal detachment with retinal defect, unspecified" EXACT [ICD9CM_2006:361.00] +synonym: "Unspecified retinal detachment with retinal defect (disorder)" EXACT [SNOMEDCT_2005_07_31:193318009] +is_obsolete: true + +[Term] +id: DOID:533 +name: thymus gland disease +alt_id: DOID:11024 +synonym: "disease of thymus gland" EXACT [] +xref: ICD10CM:E32 +xref: ICD10CM:E32.9 +xref: ICD9CM:254 +xref: ICD9CM:254.9 +xref: NCI:C26962 +xref: SNOMEDCT_US_2015_03_01:154703006 +xref: SNOMEDCT_US_2015_03_01:190500009 +xref: SNOMEDCT_US_2015_03_01:20673009 +xref: SNOMEDCT_US_2015_03_01:267482009 +xref: UMLS_CUI:C0154199 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:5330 +name: dental pulp disease +synonym: "Dental pulp disorder" EXACT [NCI2004_11_17:C34530] +synonym: "disorder of pulp of tooth (disorder)" EXACT [SNOMEDCT_2005_07_31:57203004] +synonym: "pulp disorder" EXACT [CSP2005:0834-4423] +xref: MSH:D003788 +xref: NCI:C34530 +xref: SNOMEDCT_US_2015_03_01:57203004 +xref: UMLS_CUI:C0011405 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:5331 +name: testicular granulosa cell tumor +synonym: "Granulosa cell tumor of testis" EXACT [NCI2004_11_17:C6357] +xref: NCI:C6357 +xref: UMLS_CUI:C1336709 +is_a: DOID:2999 ! granulosa cell tumor + +[Term] +id: DOID:5334 +name: paraphimosis +synonym: "Paraphimosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13758004] +xref: ICD10CM:N47.2 +xref: MSH:D010263 +xref: NCI:C34893 +xref: SNOMEDCT_US_2015_03_01:13758004 +xref: SNOMEDCT_US_2015_03_01:155922002 +xref: UMLS_CUI:C0030483 +is_a: DOID:2712 ! phimosis + +[Term] +id: DOID:5335 +name: renal neoplasm with t(6;11)(p21;q12) +is_obsolete: true + +[Term] +id: DOID:5337 +name: epulis +synonym: "epulides" EXACT [] +synonym: "Epulis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:71708001] +synonym: "Gingival polyp" EXACT [MTHICD9_2006:523.8] +synonym: "Gingival polyp (disorder)" EXACT [SNOMEDCT_2005_07_31:45676007] +synonym: "polyp of Gum" EXACT [NCI2004_11_17:C3948] +xref: MSH:D005882 +xref: NCI:C3948 +xref: SNOMEDCT_US_2015_03_01:45676007 +xref: SNOMEDCT_US_2015_03_01:71708001 +xref: UMLS_CUI:C0266919 +is_a: DOID:3086 ! gingival overgrowth + +[Term] +id: DOID:5338 +name: gingival hypertrophy +synonym: "hypertrophy of gingivae" EXACT [SNOMEDCT_2005_07_31:54711002] +xref: MSH:D005886 +xref: SNOMEDCT_US_2015_03_01:441787004 +xref: SNOMEDCT_US_2015_03_01:54711002 +xref: UMLS_CUI:C0017567 +is_a: DOID:3086 ! gingival overgrowth + +[Term] +id: DOID:5339 +name: cyclic hematopoiesis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cyclic agranulocytosis" EXACT [] +synonym: "Cyclic Hematopoiesis" EXACT [NCI2004_11_17:C3820] +synonym: "Cyclic neutropenia (disorder)" EXACT [SNOMEDCT_2005_07_31:69295006] +synonym: "Cyclical neutropenia" EXACT [SNOMEDCT_2005_07_31:234575007] +synonym: "Cyclical neutropenia (disorder)" EXACT [SNOMEDCT_2005_07_31:191347008] +synonym: "Neutropenia, periodic" EXACT [MTHICD9_2006:288.0] +xref: ICD10CM:D70.4 +xref: ICD9CM:288.02 +xref: MSH:C536227 +xref: NCI:C3820 +xref: OMIM:162800 +xref: SNOMEDCT_US_2015_03_01:191347008 +xref: SNOMEDCT_US_2015_03_01:234575007 +xref: SNOMEDCT_US_2015_03_01:69295006 +xref: UMLS_CUI:C0221023 +is_a: DOID:1227 ! neutropenia + +[Term] +id: DOID:534 +name: persistent disorder of initiating or maintaining wakefulness +is_obsolete: true + +[Term] +id: DOID:5340 +name: anterograde amnesia +def: "An amnestic disorder that involves the impaired or lost ability to memorize new things." [url:http\://en.wikipedia.org/wiki/Amnesia] +xref: ICD10CM:R41.1 +xref: MSH:D020324 +xref: SNOMEDCT_US_2015_03_01:206789002 +xref: SNOMEDCT_US_2015_03_01:88822006 +xref: UMLS_CUI:C0233795 +is_a: DOID:10914 ! amnestic disorder + +[Term] +id: DOID:5341 +name: pineal region yolk sac tumor +synonym: "Pineal Region Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6752] +xref: NCI:C6752 +xref: UMLS_CUI:C1335420 +is_a: DOID:1660 ! malignant pineal area germ cell neoplasm + +[Term] +id: DOID:5342 +name: childhood endodermal sinus tumor +def: "An endodermal sinus tumor that occurs in children." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] +synonym: "childhood endodermal sinus neoplasm" EXACT [] +synonym: "pediatric Yolk Sac tumor" EXACT [NCI2004_11_17:C27364] +xref: NCI:C27364 +xref: UMLS_CUI:C1333016 +is_a: DOID:1911 ! endodermal sinus tumor + +[Term] +id: DOID:5343 +name: central nervous system endodermal sinus tumor +alt_id: DOID:6051 +synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [] +synonym: "pediatric central nervous system Yolk Sac tumor" EXACT [NCI2004_11_17:C6209] +synonym: "Yolk Sac tumor of the CNS" EXACT [NCI2004_11_17:C7011] +xref: NCI:C6209 +xref: NCI:C7011 +xref: UMLS_CUI:C1337040 +xref: UMLS_CUI:C1377613 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:5344 +name: testicular yolk sac tumor +synonym: "testicular Yolk Sac neoplasm" EXACT [NCI2004_11_17:C8000] +xref: NCI:C8000 +xref: UMLS_CUI:C0279708 +is_a: DOID:5345 ! testicular non-seminomatous germ cell cancer + +[Term] +id: DOID:5345 +name: testicular non-seminomatous germ cell cancer +synonym: "malignant Non-Seminomatous germ cell tumor of testis" EXACT [NCI2004_11_17:C5027] +xref: NCI:C5027 +xref: UMLS_CUI:C1334625 +is_a: DOID:5556 ! testicular malignant germ cell cancer + +[Term] +id: DOID:5346 +name: mediastinal endodermal sinus tumor +synonym: "mediastinal endodermal sinus neoplasm" EXACT [] +synonym: "Yolk Sac tumor of mediastinum" EXACT [NCI2004_11_17:C6443] +is_obsolete: true + +[Term] +id: DOID:5347 +name: mediastinal non-seminomatous germ cell cancer +synonym: "Non-Seminomatous malignant germ cell tumor of mediastinum" EXACT [NCI2004_11_17:C6439] +is_obsolete: true + +[Term] +id: DOID:5348 +name: adult endodermal sinus tumor +def: "An endodermal sinus tumor that occurs in adults." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] +synonym: "adult endodermal sinus neoplasm" EXACT [] +synonym: "adult Yolk Sac neoplasm" EXACT [NCI2004_11_17:C27241] +xref: NCI:C27241 +xref: UMLS_CUI:C1332221 +is_a: DOID:1911 ! endodermal sinus tumor + +[Term] +id: DOID:5349 +name: central nervous system adult germ cell tumor +synonym: "germ cell tumor of the adult CNS" EXACT [NCI2004_11_17:C6285] +xref: NCI:C6285 +xref: UMLS_CUI:C0280796 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:535 +name: sleep disorder +alt_id: DOID:9028 +def: "A disease of mental health that involves disruption of sleep patterns." [url:http\://en.wikipedia.org/wiki/Sleep_disorder] +synonym: "Non-organic sleep disorder" EXACT [SNOMEDCT_2005_07_31:192453005] +xref: ICD9CM:307.4 +xref: UMLS_CUI:C0154564 +is_a: DOID:150 ! disease of mental health + +[Term] +id: DOID:5350 +name: ovarian endodermal sinus tumor +synonym: "Endodermal sinus tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254876005] +synonym: "Ovarian Yolk Sac tumor" EXACT [NCI2004_11_17:C8107] +xref: NCI:C8107 +xref: SNOMEDCT_US_2015_03_01:254876005 +xref: UMLS_CUI:C0346188 +is_a: DOID:5351 ! ovarian primitive germ cell tumor + +[Term] +id: DOID:5351 +name: ovarian primitive germ cell tumor +xref: NCI:C39986 +xref: UMLS_CUI:C1518727 +is_a: DOID:2155 ! malignant ovarian germ cell neoplasm + +[Term] +id: DOID:5353 +name: colonic disease +alt_id: DOID:10758 +synonym: "colon disorder" EXACT [CSP2005:1248-3971] +xref: MSH:D003108 +xref: SNOMEDCT_US_2015_03_01:128524007 +xref: UMLS_CUI:C0009373 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:5354 +name: lung PAP-AD +is_obsolete: true + +[Term] +id: DOID:5355 +name: mucinous bronchioloalveolar lung carcinoma +synonym: "mucinous Bronchoalveolar lung carcinoma" EXACT [NCI2004_11_17:C7268] +is_obsolete: true + +[Term] +id: DOID:5358 +name: non-mucinous bronchioloalveolar lung carcinoma +synonym: "Non-mucinous Bronchoalveolar lung carcinoma" EXACT [NCI2004_11_17:C7269] +is_obsolete: true + +[Term] +id: DOID:5359 +name: pure BAC +is_obsolete: true + +[Term] +id: DOID:536 +name: persistent disorder of initiating or maintaining sleep +is_obsolete: true + +[Term] +id: DOID:5360 +name: AD-BAC +is_obsolete: true + +[Term] +id: DOID:5361 +name: mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma +synonym: "mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma" EXACT [NCI2004_11_17:C7270] +is_obsolete: true + +[Term] +id: DOID:5362 +name: focal epithelial hyperplasia +def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." [url:http\://www.ams.ac.ir/aim/010131/0012.pdf] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Heck disease" EXACT [] +synonym: "Heck's disease" EXACT [] +synonym: "Multifocal epithelial hyperplasia" EXACT [SNOMEDCT_2005_07_31:6121001] +xref: MSH:D017573 +xref: NCI:C97083 +xref: OMIM:229045 +xref: SNOMEDCT_US_2015_03_01:36949004 +xref: SNOMEDCT_US_2015_03_01:6121001 +xref: UMLS_CUI:C0206067 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:5363 +name: myxoid liposarcoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Myxoid Liposarcoma" EXACT [NCI2004_11_17:C3735] +synonym: "Myxoid liposarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404069006] +synonym: "Myxoid liposarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:27849002] +xref: MSH:D018208 +xref: NCI:C3735 +xref: OMIM:613488 +xref: SNOMEDCT_US_2015_03_01:27849002 +xref: SNOMEDCT_US_2015_03_01:404069006 +xref: UMLS_CUI:C0206634 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5364 +name: pulmonary coin lesion +synonym: "Coin lesion lung" EXACT [MTHICD9_2006:793.1] +synonym: "Coin lesion of lung" EXACT [SNOMEDCT_2005_07_31:158600006] +synonym: "Coin lesion of lung (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207405001] +synonym: "Coin lesion of lung (finding)" EXACT [SNOMEDCT_2005_07_31:308689002] +xref: ICD10CM:R91.1 +xref: MSH:D003074 +xref: SNOMEDCT_US_2015_03_01:158600006 +xref: SNOMEDCT_US_2015_03_01:207405001 +xref: SNOMEDCT_US_2015_03_01:308689002 +xref: UMLS_CUI:C0009250 +is_a: DOID:3683 ! lung benign neoplasm + +[Term] +id: DOID:5368 +name: Wolffian duct adenocarcinoma +xref: NCI:C40254 +xref: UMLS_CUI:C1516419 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:5369 +name: ovine progressive interstitial pneumonia +def: "A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm] +synonym: "progressive interstitial pneumonia of sheep" EXACT [] +synonym: "progressive pneumonia of sheep (disorder)" EXACT [SNOMEDCT_2005_07_31:48722001] +is_obsolete: true + +[Term] +id: DOID:5370 +name: breast hemangiopericytoma +def: "A hemangiopericytoma that is manifested in the breast." [url:http\://www.jaoa.org/cgi/content/abstract/91/6/606] +xref: NCI:C40396 +xref: UMLS_CUI:C1511313 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:5373 +name: retroperitoneal hemangiopericytoma +xref: NCI:C5386 +xref: UMLS_CUI:C1335777 +is_a: DOID:264 ! hemangiopericytoma + +[Term] +id: DOID:5374 +name: pilomatrixoma +alt_id: DOID:5377 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign pilomatricoma" EXACT [] +synonym: "Pilomatricoma" EXACT [NCI2004_11_17:C7368] +synonym: "Pilomatrixoma (disorder)" EXACT [SNOMEDCT_2005_07_31:274901004] +synonym: "Pilomatrixoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:44155009] +xref: MSH:D018296 +xref: NCI:C7368 +xref: OMIM:132600 +xref: SNOMEDCT_US_2015_03_01:274901004 +xref: SNOMEDCT_US_2015_03_01:44155009 +xref: UMLS_CUI:C0206711 +is_a: DOID:5375 ! hair follicle neoplasm + +[Term] +id: DOID:5375 +name: hair follicle neoplasm +synonym: "Hair Matrix neoplasm" EXACT [NCI2004_11_17:C7367] +synonym: "Hair matrix tumour" EXACT [SNOMEDCT_2005_07_31:44155009] +xref: NCI:C7367 +xref: SNOMEDCT_US_2015_03_01:44155009 +xref: UMLS_CUI:C0859920 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:5376 +name: skin pilomatrix carcinoma +synonym: "malignant Pilomatricoma" EXACT [NCI2004_11_17:C4114] +synonym: "Pilomatricoma, malignant" EXACT [SNOMEDCT_2005_07_31:24762001] +synonym: "pilomatrix carcinoma of skin" RELATED [] +synonym: "Pilomatrix carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:307610008] +xref: NCI:C4114 +xref: SNOMEDCT_US_2015_03_01:24762001 +xref: SNOMEDCT_US_2015_03_01:307610008 +xref: UMLS_CUI:C0585475 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:5378 +name: hemoglobin D disease +synonym: "Hb-D disease" EXACT [MTHICD9_2006:282.7] +synonym: "Hemoglobin D disease" EXACT [NCI2004_11_17:C35344] +synonym: "Hemoglobin D disease (disorder)" EXACT [SNOMEDCT_2005_07_31:66729008] +xref: ICD10CM:D58.2 +xref: NCI:C35344 +xref: SNOMEDCT_US_2015_03_01:66729008 +xref: UMLS_CUI:C0272080 +is_a: DOID:2860 ! hemoglobinopathy + +[Term] +id: DOID:5379 +name: hemoglobin E disease +synonym: "Hb-E disease" EXACT [MTHICD9_2006:282.7] +synonym: "Hemoglobin E disease" EXACT [NCI2004_11_17:C35287] +synonym: "Hemoglobin E disease (disorder)" EXACT [SNOMEDCT_2005_07_31:25065001] +xref: EFOpat_id:3654 +xref: ICD10CM:D58.2 +xref: NCI:C35287 +xref: SNOMEDCT_US_2015_03_01:25065001 +xref: UMLS_CUI:C0238159 +is_a: DOID:2860 ! hemoglobinopathy + +[Term] +id: DOID:538 +name: internuclear ophthalmoplegia +synonym: "Internuclear ophthalmoplegia" EXACT [ICD9CM_2006:378.86] +synonym: "Internuclear ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:49823009] +xref: ICD10CM:H51.2 +xref: ICD9CM:378.86 +xref: MSH:D015835 +xref: SNOMEDCT_US_2015_03_01:49823009 +xref: UMLS_CUI:C0152134 +is_a: DOID:539 ! ophthalmoplegia +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:5380 +name: lupus vulgaris +subset: gram-positive_bacterial_infectious_disease +synonym: "Lupus - tuberculous" EXACT [SNOMEDCT_2005_07_31:186248003] +synonym: "Lupus exedens" EXACT [MTHICD9_2006:017.0] +synonym: "lupus tuberculosis" EXACT [CSP2005:0729-7721] +synonym: "Lupus vulgaris" EXACT [SNOMEDCT_2005_07_31:154290000] +synonym: "Lupus vulgaris" EXACT [SNOMEDCT_2005_07_31:186249006] +synonym: "Lupus vulgaris (disorder)" EXACT [SNOMEDCT_2005_07_31:10528009] +synonym: "Tuberculosis - lupus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186251005] +is_obsolete: true + +[Term] +id: DOID:5381 +name: bile duct adenoma +def: "An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma." [url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/one/000001598.htm] +synonym: "bile duct adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189591008] +synonym: "bile duct adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:39471001] +synonym: "Cholangioadenoma" EXACT [NCI2004_11_17:C2942] +xref: MSH:D002759 +xref: NCI:C2942 +xref: SNOMEDCT_US_2015_03_01:189591008 +xref: SNOMEDCT_US_2015_03_01:39471001 +xref: SNOMEDCT_US_2015_03_01:424091006 +xref: UMLS_CUI:C0008309 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:5382 +name: Bartholin's gland adenoma +synonym: "Bartholin gland adenoma" EXACT [] +xref: NCI:C40299 +xref: UMLS_CUI:C1511048 +is_a: DOID:2068 ! Bartholin's gland benign neoplasm + +[Term] +id: DOID:5384 +name: bile duct cystadenoma +synonym: "bile duct cystadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:83025009] +synonym: "Cystadenoma of the bile duct" EXACT [NCI2004_11_17:C4129] +xref: NCI:C4129 +xref: SNOMEDCT_US_2015_03_01:83025009 +xref: UMLS_CUI:C0334285 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:5385 +name: mixed cell adenoma +xref: NCI:C4157 +xref: SNOMEDCT_US_2015_03_01:89773001 +xref: UMLS_CUI:C0334323 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:5386 +name: lung adenoma +synonym: "adenoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:254642004] +synonym: "pulmonary adenoma" EXACT [NCI2004_11_17:C4455] +xref: NCI:C4455 +xref: SNOMEDCT_US_2015_03_01:254642004 +xref: UMLS_CUI:C0345964 +is_a: DOID:3683 ! lung benign neoplasm + +[Term] +id: DOID:5387 +name: middle ear adenoma +synonym: "adenoma of middle ear" RELATED [] +synonym: "adenoma of the middle ear" EXACT [NCI2004_11_17:C6834] +xref: NCI:C6834 +xref: UMLS_CUI:C1334759 +is_a: DOID:0060096 ! sensory organ benign neoplasm + +[Term] +id: DOID:5389 +name: oxyphilic adenoma +synonym: "Follicular adenoma, oxyphilic cell" EXACT [SNOMEDCT_2005_07_31:89439007] +synonym: "Oncocytoma" EXACT [NCI2004_11_17:C3759] +xref: MSH:D018249 +xref: NCI:C3759 +xref: SNOMEDCT_US_2015_03_01:89439007 +xref: UMLS_CUI:C1510502 +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:539 +name: ophthalmoplegia +alt_id: DOID:10868 +synonym: "oculomotor paralysis" EXACT [CSP2005:1115-2778] +synonym: "Ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:16110005] +synonym: "Ophthalmoplegia NOS" EXACT [SNOMEDCT_2005_07_31:155196009] +synonym: "Ophthalmoplegia NOS" EXACT [MTHICD9_2006:378.9] +synonym: "Ophthalmoplegia NOS" EXACT [SNOMEDCT_2005_07_31:267745004] +synonym: "Total ophthalmoplegia" EXACT [] +synonym: "Total ophthalmoplegia (disorder)" EXACT [SNOMEDCT_2005_07_31:78097002] +xref: ICD9CM:378.56 +xref: MSH:D009886 +xref: NCI:C79697 +xref: SNOMEDCT_US_2015_03_01:155196009 +xref: SNOMEDCT_US_2015_03_01:16110005 +xref: SNOMEDCT_US_2015_03_01:267745004 +xref: SNOMEDCT_US_2015_03_01:78097002 +xref: UMLS_CUI:C0029089 +xref: UMLS_CUI:C0155338 +is_a: DOID:1279 ! ocular motility disease + +[Term] +id: DOID:5390 +name: clear cell adenoma +def: "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary." [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] +synonym: "Clear cell adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:1752006] +xref: NCI:C4151 +xref: SNOMEDCT_US_2015_03_01:1752006 +xref: UMLS_CUI:C0334315 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:5391 +name: bronchus adenoma +synonym: "adenoma of the bronchus" RELATED [] +synonym: "Bronchial adenoma" EXACT [NCI2004_11_17:C3494] +synonym: "Bronchial adenoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189617001] +synonym: "Bronchial adenoma, NOS" EXACT [SNOMEDCT_2005_07_31:24482001] +xref: NCI:C3494 +xref: SNOMEDCT_US_2015_03_01:189617001 +xref: SNOMEDCT_US_2015_03_01:24482001 +xref: UMLS_CUI:C0149845 +is_a: DOID:5386 ! lung adenoma + +[Term] +id: DOID:5392 +name: acidophil adenoma +synonym: "Eosinophil adenoma" EXACT [NCI2004_11_17:C6780] +xref: MSH:D000239 +xref: NCI:C6780 +xref: SNOMEDCT_US_2015_03_01:21109002 +xref: UMLS_CUI:C0001433 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:5393 +name: brain angioma +xref: NCI:C7739 +xref: UMLS_CUI:C0238814 +is_a: DOID:2517 ! intracranial structure hemangioma + +[Term] +id: DOID:5394 +name: prolactinoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial prolactinoma" EXACT [] +synonym: "PITUITARY ADENOMA, PROLACTIN-SECRETING" EXACT [] +synonym: "Prolactinoma of Pituitary gland" EXACT [NCI2004_11_17:C3342] +xref: MSH:D015175 +xref: NCI:C3342 +xref: OMIM:600634 +xref: SNOMEDCT_US_2015_03_01:134209002 +xref: SNOMEDCT_US_2015_03_01:34337008 +xref: SNOMEDCT_US_2015_03_01:367098005 +xref: UMLS_CUI:C0033375 +is_a: DOID:5395 ! functioning pituitary adenoma + +[Term] +id: DOID:5395 +name: functioning pituitary adenoma +synonym: "Secretory adenoma of the Pituitary gland" EXACT [NCI2004_11_17:C8388] +xref: NCI:C8388 +xref: UMLS_CUI:C0854486 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:5396 +name: prolactin producing pituitary tumor +alt_id: DOID:6272 +synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [] +synonym: "malignant Prolactinoma" EXACT [NCI2004_11_17:C5962] +synonym: "Prolactin Secreting tumor of Pituitary" EXACT [NCI2004_11_17:C7910] +xref: NCI:C5962 +xref: NCI:C7910 +xref: UMLS_CUI:C0278863 +xref: UMLS_CUI:C1334614 +is_a: DOID:5716 ! hormone producing pituitary cancer + +[Term] +id: DOID:5397 +name: ductal adenoma +is_obsolete: true + +[Term] +id: DOID:5398 +name: lipoadenoma +def: "An adenoma that is composed_of adipose tissue." [url:http\://en.wiktionary.org/wiki/lipoadenoma] +synonym: "Lipoadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:22024005] +xref: NCI:C4159 +xref: SNOMEDCT_US_2015_03_01:22024005 +xref: UMLS_CUI:C0334325 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:5399 +name: ovine pulmonary adenomatosis +alt_id: DOID:3802 +def: "A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf] +synonym: "Jaagziekte (disorder)" EXACT [SNOMEDCT_2005_07_31:7238003] +synonym: "ovine pulmonary adenomatosis" EXACT [] +synonym: "pulmonary adenomatosis" EXACT [NCI2004_11_17:C3763] +synonym: "pulmonary adenomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:32434004] +synonym: "Tumor Virus Infections" RELATED [] +is_obsolete: true + +[Term] +id: DOID:540 +name: strabismus +xref: ICD10CM:H50.8 +xref: ICD10CM:H50.89 +xref: ICD9CM:378.7 +xref: SNOMEDCT_US_2015_03_01:194125000 +xref: SNOMEDCT_US_2015_03_01:194128003 +xref: SNOMEDCT_US_2015_03_01:194651002 +xref: UMLS_CUI:C0029831 +is_a: DOID:1279 ! ocular motility disease +is_a: DOID:9834 ! hyperopia + +[Term] +id: DOID:5400 +name: trabecular adenoma +synonym: "Trabecular adenoma" EXACT [NCI2004_11_17:C3688] +synonym: "Trabecular adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21930005] +is_obsolete: true + +[Term] +id: DOID:5401 +name: water-clear cell adenoma +def: "An adenoma that derives_from epithelial cells which have clear cytoplasm." [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8] +synonym: "Water-clear cell adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26638004] +xref: NCI:C4155 +xref: SNOMEDCT_US_2015_03_01:26638004 +xref: UMLS_CUI:C0334321 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:5402 +name: vaginal adenoma +xref: NCI:C40256 +xref: UMLS_CUI:C1519913 +is_a: DOID:0060114 ! vaginal benign neoplasm + +[Term] +id: DOID:5403 +name: microcystic adenoma +synonym: "Microcystic adenoma" EXACT [SNOMEDCT_2005_07_31:189580001] +synonym: "Microcystic adenoma" EXACT [NCI2004_11_17:C3685] +synonym: "Microcystic adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:79494009] +xref: MSH:D000236 +xref: NCI:C3685 +xref: SNOMEDCT_US_2015_03_01:189580001 +xref: SNOMEDCT_US_2015_03_01:79494009 +xref: UMLS_CUI:C0205648 +is_a: DOID:657 ! adenoma + +[Term] +id: DOID:5404 +name: atypical adenoma +synonym: "Atypical adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24482001] +is_obsolete: true + +[Term] +id: DOID:5408 +name: Paget's disease of bone +def: "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs." [url:http\://en.wikipedia.org/wiki/Paget%27s_disease_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=A00076, url:http\://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485, url:http\://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html] +comment: Xref MGI.\nMSH:C538098 added from NeuroDevNet [WAK]. +subset: DO_MGI_slim +synonym: "Familial Paget's disease of bone" RELATED [MSH:C538098] +synonym: "osseous Paget's disease" EXACT [NCI2004_11_17:C3292] +synonym: "osteitis deformans" EXACT [] +synonym: "Paget disease of bone" EXACT [] +synonym: "PAGET'S BONE DISEASE" EXACT [MTH:547] +xref: EFO:0004261 +xref: ICD10CM:M88 +xref: MSH:D010001 +xref: NCI:C3292 +xref: OMIM:167250 +xref: OMIM:602080 +xref: OMIM:606263 +xref: ORDO:280110 +xref: SNOMEDCT_US_2015_03_01:156811005 +xref: SNOMEDCT_US_2015_03_01:156812003 +xref: SNOMEDCT_US_2015_03_01:203353000 +xref: SNOMEDCT_US_2015_03_01:203354006 +xref: SNOMEDCT_US_2015_03_01:2089002 +xref: UMLS_CUI:C0029401 +is_a: DOID:205 ! hyperostosis + +[Term] +id: DOID:5409 +name: lung small cell carcinoma +def: "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells." [url:http\://en.wikipedia.org/wiki/Small-cell_carcinoma] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Oat cell carcinoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:254633006] +synonym: "SCLC" EXACT [CSP2005:2017-6589] +synonym: "small cell carcinoma of lung" RELATED [] +synonym: "small cell carcinoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:254632001] +synonym: "small cell neuroendocrine carcinoma of lung" EXACT [NCI2004_11_17:C4917] +xref: KEGG:05222 +xref: MSH:D055752 +xref: NCI:C4917 +xref: OMIM:182280 +xref: SNOMEDCT_US_2015_03_01:254632001 +xref: SNOMEDCT_US_2015_03_01:254633006 +xref: UMLS_CUI:C0149925 +is_a: DOID:3905 ! lung carcinoma + +[Term] +id: DOID:541 +name: convergence insufficiency or palsy +is_obsolete: true + +[Term] +id: DOID:5410 +name: pulmonary neuroendocrine tumor +xref: NCI:C5670 +xref: SNOMEDCT_US_2015_03_01:707594002 +xref: UMLS_CUI:C1334452 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:5411 +name: lung oat cell carcinoma +synonym: "oat cell carcinoma" EXACT [CSP2005:2017-6589] +synonym: "Oat cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:76817009] +synonym: "poorly differentiated Endocrine neoplasm" EXACT [NCI2004_11_17:C3915] +xref: MSH:D018288 +xref: NCI:C3915 +xref: SNOMEDCT_US_2015_03_01:189555001 +xref: SNOMEDCT_US_2015_03_01:74364000 +xref: SNOMEDCT_US_2015_03_01:76817009 +xref: UMLS_CUI:C0262584 +is_a: DOID:5409 ! lung small cell carcinoma + +[Term] +id: DOID:5414 +name: lung occult small cell carcinoma +synonym: "occult small cell carcinoma of lung" RELATED [] +synonym: "Occult small cell carcinoma of the lung" EXACT [NCI2004_11_17:C6683] +xref: NCI:C6683 +xref: UMLS_CUI:C1335099 +is_a: DOID:5409 ! lung small cell carcinoma + +[Term] +id: DOID:5416 +name: recurrent small cell lung cancer +synonym: "relapsed small cell carcinoma of the lung" EXACT [NCI2004_11_17:C9050] +is_obsolete: true + +[Term] +id: DOID:5418 +name: schizoaffective disorder +def: "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality." [url:http\://en.wikipedia.org/wiki/Schizoaffective_disorder, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000930.htm] +xref: ICD10CM:F25 +xref: ICD10CM:F25.9 +xref: ICD9CM:295.7 +xref: MSH:D011618 +xref: NCI:C94378 +xref: SNOMEDCT_US_2015_03_01:191567000 +xref: SNOMEDCT_US_2015_03_01:191568005 +xref: SNOMEDCT_US_2015_03_01:191575006 +xref: SNOMEDCT_US_2015_03_01:192345003 +xref: SNOMEDCT_US_2015_03_01:231490005 +xref: SNOMEDCT_US_2015_03_01:68890003 +xref: UMLS_CUI:C0036337 +is_a: DOID:2468 ! psychotic disorder + +[Term] +id: DOID:5419 +name: schizophrenia +alt_id: DOID:14734 +def: "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." [url:http\://en.wikipedia.org/wiki/Schizophrenia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "schizophrenia-1" EXACT [] +xref: EFO:0000692 +xref: HP:0100753 +xref: ICD9CM:295.8 +xref: ICD9CM:295.80 +xref: OMIM:181500 +xref: OMIM:181510 +xref: OMIM:600511 +xref: OMIM:600850 +xref: OMIM:603013 +xref: OMIM:603175 +xref: OMIM:603176 +xref: OMIM:603206 +xref: OMIM:603342 +xref: OMIM:604906 +xref: OMIM:605419 +xref: OMIM:608078 +xref: OMIM:608543 +xref: OMIM:612361 +xref: OMIM:613025 +xref: OMIM:613950 +xref: OMIM:613959 +xref: OMIM:615232 +xref: UMLS_CUI:C0029838 +xref: UMLS_CUI:C0220702 +is_a: DOID:2468 ! psychotic disorder + +[Term] +id: DOID:5421 +name: lung combined type small cell carcinoma +def: "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells." [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma] +synonym: "Combined small cell carcinoma of the lung" EXACT [NCI2004_11_17:C9137] +synonym: "combined type small cell carcinoma of lung" RELATED [] +xref: NCI:C9137 +xref: UMLS_CUI:C1333125 +is_a: DOID:5409 ! lung small cell carcinoma + +[Term] +id: DOID:5422 +name: combined carcinoma of lung +synonym: "Combined carcinoma of the lung" EXACT [NCI2004_11_17:C7591] +is_obsolete: true + +[Term] +id: DOID:5423 +name: central nervous system hemangioblastoma +synonym: "Hemangioblastoma of the CNS" EXACT [NCI2004_11_17:C7007] +is_obsolete: true + +[Term] +id: DOID:5425 +name: ovarian hyperstimulation syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "secondary Meig's syndrome" EXACT [SNOMEDCT_2005_07_31:129635004] +xref: MSH:D016471 +xref: OMIM:608115 +xref: SNOMEDCT_US_2015_03_01:129635004 +xref: UMLS_CUI:C0085083 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:5426 +name: premature ovarian failure +def: "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40." [url:http\://en.wikipedia.org/wiki/Premature_ovarian_failure, url:http\://www.merckmanuals.com/professional/gynecology_and_obstetrics/menstrual_abnormalities/premature_ovarian_insufficiency_or_failure.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "hypergonadotropic hypogonadism" EXACT [] +synonym: "premature menopause" EXACT [] +synonym: "premature ovarian insufficiency" EXACT [] +synonym: "primary ovarian insufficiency" EXACT [] +xref: MSH:D016649 +xref: OMIM:300510 +xref: OMIM:300511 +xref: OMIM:300604 +xref: OMIM:311360 +xref: OMIM:608996 +xref: OMIM:611548 +xref: OMIM:612310 +xref: OMIM:612964 +xref: OMIM:615723 +xref: OMIM:615724 +xref: ORDO:619 +xref: SNOMEDCT_US_2015_03_01:237788002 +xref: UMLS_CUI:C0085215 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:5427 +name: urinary bladder villous adenoma +synonym: "villous adenoma of urinary bladder" EXACT [NCI2004_11_17:C7414] +xref: NCI:C7414 +xref: UMLS_CUI:C1336893 +is_a: DOID:11054 ! urinary bladder cancer + +[Term] +id: DOID:5429 +name: bladder flat intraepithelial lesion +synonym: "Flat Intraepithelial Lesion of the urinary bladder" EXACT [NCI2004_11_17:C37266] +xref: NCI:C37266 +xref: UMLS_CUI:C1332559 +is_a: DOID:0050623 ! bladder benign neoplasm + +[Term] +id: DOID:543 +name: dystonia +alt_id: DOID:544 +synonym: "dystonic disease" EXACT [] +xref: ICD10CM:G24 +xref: ICD10CM:G24.9 +xref: MSH:D004421 +xref: MSH:D020821 +xref: NCI:C34563 +xref: SNOMEDCT_US_2015_03_01:15802004 +xref: SNOMEDCT_US_2015_03_01:192863009 +xref: SNOMEDCT_US_2015_03_01:194478005 +xref: SNOMEDCT_US_2015_03_01:250068003 +xref: UMLS_CUI:C0013421 +xref: UMLS_CUI:C0393593 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:5430 +name: intraurothelial neoplasia +is_obsolete: true + +[Term] +id: DOID:5432 +name: bladder papillary transitional cell neoplasm +synonym: "urinary bladder Papillary Urothelial neoplasm" EXACT [NCI2004_11_17:C39857] +xref: NCI:C39857 +xref: UMLS_CUI:C1511197 +is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm + +[Term] +id: DOID:5433 +name: urinary tract papillary transitional cell benign neoplasm +alt_id: DOID:6120 +synonym: "Inverted papilloma of urinary tract" EXACT [NCI2004_11_17:C6192] +synonym: "Papillary transitional cell neoplasm of the urinary tract" EXACT [NCI2004_11_17:C27883] +synonym: "urinary tract inverted papilloma" EXACT [] +xref: NCI:C27883 +xref: NCI:C6192 +xref: UMLS_CUI:C1334282 +xref: UMLS_CUI:C1335329 +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:5434 +name: scrapie +xref: MSH:D012608 +xref: SNOMEDCT_US_2015_03_01:35103004 +xref: UMLS_CUI:C0036457 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:5435 +name: variant Creutzfeldt-Jakob disease +synonym: "bovine spongiform encephalopathy" EXACT [] +synonym: "Bovine spongiform encephalopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:52869003] +xref: MSH:D016643 +xref: SNOMEDCT_US_2015_03_01:52869003 +xref: UMLS_CUI:C0085209 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:5437 +name: intrahepatic bile duct adenoma +synonym: "adenoma of intrahepatic bile duct" RELATED [] +synonym: "adenoma of the Intrahepatic bile duct" EXACT [NCI2004_11_17:C7126] +xref: NCI:C7126 +xref: UMLS_CUI:C1331535 +is_a: DOID:5381 ! bile duct adenoma + +[Term] +id: DOID:5438 +name: extrahepatic bile duct adenoma +def: "A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium." [url:http\://www.joplink.net/prev/200803/08.html] +synonym: "adenoma of extrahepatic bile duct" RELATED [] +synonym: "adenoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5857] +xref: NCI:C5857 +xref: UMLS_CUI:C1331534 +is_a: DOID:5381 ! bile duct adenoma + +[Term] +id: DOID:5439 +name: papillary hidradenoma +xref: NCI:C4171 +xref: SNOMEDCT_US_2015_03_01:134157002 +xref: SNOMEDCT_US_2015_03_01:307597000 +xref: SNOMEDCT_US_2015_03_01:89791006 +xref: UMLS_CUI:C0334348 +is_a: DOID:3896 ! hidradenoma + +[Term] +id: DOID:5442 +name: eccrine acrospiroma +synonym: "Eccrine acrospiroma" EXACT [SNOMEDCT_2005_07_31:81143000] +synonym: "Eccrine hidradenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254719003] +synonym: "Eccrine hidradenoma of skin" EXACT [SNOMEDCT_2005_07_31:400099008] +synonym: "Poroma (Acrospiroma)" EXACT [NCI2004_11_17:C27273] +xref: MSH:D018250 +xref: NCI:C7568 +xref: SNOMEDCT_US_2015_03_01:253020008 +xref: SNOMEDCT_US_2015_03_01:254719003 +xref: SNOMEDCT_US_2015_03_01:400099008 +xref: SNOMEDCT_US_2015_03_01:81143000 +xref: SNOMEDCT_US_2015_03_01:81393009 +xref: UMLS_CUI:C0206671 +is_a: DOID:173 ! eccrine sweat gland neoplasm + +[Term] +id: DOID:5443 +name: clear cell hidradenoma +synonym: "Clear cell Hidradenoma" EXACT [NCI2004_11_17:C7567] +synonym: "Clear cell hidradenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:81143000] +synonym: "Clear cell myoepithelioma" EXACT [SNOMEDCT_2005_07_31:400099008] +synonym: "Clear cell myoepithelioma" EXACT [SNOMEDCT_2005_07_31:254719003] +xref: NCI:C7567 +xref: SNOMEDCT_US_2015_03_01:254719003 +xref: SNOMEDCT_US_2015_03_01:400099008 +xref: SNOMEDCT_US_2015_03_01:81143000 +xref: UMLS_CUI:C1370701 +is_a: DOID:3896 ! hidradenoma + +[Term] +id: DOID:5444 +name: spiradenoma +alt_id: DOID:1617 +synonym: "benign eccrine spiradenoma" EXACT [] +synonym: "Eccrine spiradenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:4977000] +synonym: "Eccrine spiradenoma of skin" EXACT [SNOMEDCT_2005_07_31:403938001] +xref: NCI:C4170 +xref: SNOMEDCT_US_2015_03_01:403938001 +xref: SNOMEDCT_US_2015_03_01:4977000 +xref: UMLS_CUI:C0334347 +is_a: DOID:5876 ! apocrine sweat gland neoplasm + +[Term] +id: DOID:5445 +name: syringocystadenoma papilliferum +synonym: "Papillary syringadenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:8934006] +synonym: "Papillary Syringadenoma (Syringocystadenoma Papilliferum)" EXACT [NCI2004_11_17:C4172] +synonym: "Syringocystadenoma papilliferum (disorder)" EXACT [SNOMEDCT_2005_07_31:239121009] +xref: NCI:C4172 +xref: SNOMEDCT_US_2015_03_01:239121009 +xref: SNOMEDCT_US_2015_03_01:8934006 +xref: UMLS_CUI:C0406803 +is_a: DOID:5876 ! apocrine sweat gland neoplasm + +[Term] +id: DOID:5446 +name: eccrine papillary adenoma +synonym: " Eccrine papillary adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189674003] +synonym: "Eccrine papillary adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:10060008] +synonym: "Eccrine papillary adenoma morphology (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134345002] +synonym: "Eccrine papillary adenoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:253021007] +xref: NCI:C4173 +xref: SNOMEDCT_US_2015_03_01:10060008 +xref: SNOMEDCT_US_2015_03_01:134345002 +xref: SNOMEDCT_US_2015_03_01:189674003 +xref: SNOMEDCT_US_2015_03_01:253021007 +xref: UMLS_CUI:C0334350 +is_a: DOID:173 ! eccrine sweat gland neoplasm + +[Term] +id: DOID:5453 +name: pulmonary venoocclusive disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "pulmonary veno-occlusive disease (disorder)" EXACT [SNOMEDCT_2005_07_31:89420002] +xref: MSH:D011668 +xref: NCI:C85039 +xref: OMIM:265450 +xref: SNOMEDCT_US_2015_03_01:89420002 +xref: UMLS_CUI:C0034091 +is_a: DOID:6432 ! pulmonary hypertension + +[Term] +id: DOID:5455 +name: pulmonary vascular disorder +is_obsolete: true + +[Term] +id: DOID:5456 +name: spinal vascular disorder +is_obsolete: true + +[Term] +id: DOID:5457 +name: laryngeal neuroendocrine tumor +synonym: "neuroendocrine tumor of Larynx" EXACT [NCI2004_11_17:C6023] +xref: NCI:C6023 +xref: SNOMEDCT_US_2015_03_01:707625001 +xref: UMLS_CUI:C1334374 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:5460 +name: contagious pleuropneumonia +def: "A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:5461 +name: primary Mycoplasma infectious disease +subset: gram-negative_bacterial_infectious_disease +synonym: "disease caused by Mycoplasma [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:59846002] +synonym: "disease caused by Mycoplasma, NOS" EXACT [SNOMEDCT_2005_07_31:367480000] +synonym: "Eaton's agent infection (disorder)" EXACT [SNOMEDCT_2005_07_31:186462007] +synonym: "Mycoplasma infection (disorder)" EXACT [SNOMEDCT_2005_07_31:186464008] +synonym: "Mycoplasma infection with Eaton's agent" EXACT [MTHICD9_2006:041.81] +synonym: "Mycoplasma infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187345008] +synonym: "Mycoplasmosis (disorder)" EXACT [SNOMEDCT_2005_07_31:174536008] +is_obsolete: true + +[Term] +id: DOID:5462 +name: African swine fever +def: "A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia." [url:http\://en.wikipedia.org/wiki/African_swine_fever, url:http\://www.oie.int/eng/maladies/fiches/a_A120.htm] +subset: tick-borne_infectious_disease +synonym: "African swine fever" EXACT [MTH:NOCODE] +synonym: "African swine fever (disorder)" EXACT [SNOMEDCT_2005_07_31:31713007] +synonym: "swine hemorrhagic fever" RELATED [] +is_obsolete: true + +[Term] +id: DOID:5463 +name: cochlear disease +xref: MSH:D015834 +xref: UMLS_CUI:C0009197 +is_a: DOID:4539 ! labyrinthine disease + +[Term] +id: DOID:5465 +name: conjunctival intraepithelial neoplasm +synonym: "Intraepithelial Neoplasia of Conjunctiva" EXACT [NCI2004_11_17:C6120] +xref: NCI:C6120 +xref: SNOMEDCT_US_2015_03_01:418134006 +xref: UMLS_CUI:C1333148 +is_a: DOID:0060071 ! pre-malignant neoplasm + +[Term] +id: DOID:5467 +name: conjunctival cancer +alt_id: DOID:1750 +synonym: "Conjunctival tumor" EXACT [NCI2004_11_17:C2961] +synonym: "malignant Conjunctival tumor" EXACT [NCI2004_11_17:C3564] +synonym: "malignant neoplasm of conjunctiva" EXACT [] +synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [SNOMEDCT_2005_07_31:93764002] +synonym: "malignant tumor of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:363463000] +synonym: "neoplasm of conjunctiva" EXACT [SNOMEDCT_2005_07_31:126996004] +xref: ICD10CM:C69.0 +xref: ICD9CM:190.3 +xref: MSH:D003230 +xref: NCI:C2961 +xref: NCI:C3564 +xref: SNOMEDCT_US_2015_03_01:126996004 +xref: SNOMEDCT_US_2015_03_01:363463000 +xref: SNOMEDCT_US_2015_03_01:93764002 +xref: UMLS_CUI:C0009761 +xref: UMLS_CUI:C0153628 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:5468 +name: biliary papillomatosis +def: "A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree." [url:http\://www.ncbi.nlm.nih.gov/pubmed/21988050] +synonym: "bile duct papillomatosis" EXACT [NCI2004_11_17:C6881] +xref: NCI:C65198 +xref: SNOMEDCT_US_2015_03_01:128663007 +xref: UMLS_CUI:C1266038 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:5469 +name: biliary tract intraductal papillary mucinous neoplasm +xref: NCI:C37215 +is_a: DOID:0050625 ! biliary tract neoplasm + +[Term] +id: DOID:5472 +name: tumor of the thecoma fibroma group +is_obsolete: true + +[Term] +id: DOID:5474 +name: ovarian serous adenofibroma +xref: NCI:C40031 +xref: UMLS_CUI:C1518729 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:5475 +name: uterine corpus adenofibroma +synonym: "adenofibroma of Corpus Uteri" EXACT [NCI2004_11_17:C6337] +synonym: "adenofibroma of uterine corpus" RELATED [] +xref: NCI:C6337 +xref: UMLS_CUI:C1336901 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:5476 +name: cervical adenofibroma +xref: NCI:C40230 +xref: UMLS_CUI:C1516402 +is_a: DOID:0060110 ! cervical benign neoplasm + +[Term] +id: DOID:5477 +name: clear cell adenofibroma +synonym: "Clear cell adenofibroma" EXACT [NCI2004_11_17:C8987] +synonym: "Clear cell adenofibroma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:58161009] +xref: MSH:D062625 +xref: NCI:C8985 +xref: NCI:C8987 +xref: SNOMEDCT_US_2015_03_01:2962009 +xref: SNOMEDCT_US_2015_03_01:58161009 +xref: UMLS_CUI:C0334317 +is_a: DOID:2683 ! adenofibroma + +[Term] +id: DOID:5478 +name: fallopian tube adenofibroma +xref: NCI:C40113 +xref: UMLS_CUI:C1517109 +is_a: DOID:0060111 ! fallopian tube benign neoplasm + +[Term] +id: DOID:5479 +name: papillary adenofibroma +synonym: "Papillary adenofibroma" EXACT [SNOMEDCT_2005_07_31:2962009] +xref: NCI:C8986 +xref: SNOMEDCT_US_2015_03_01:2962009 +xref: UMLS_CUI:C1377850 +is_a: DOID:2683 ! adenofibroma + +[Term] +id: DOID:548 +name: malignant hypertensive heart disease +synonym: "malignant hypertensive heart disease (disorder)" EXACT [SNOMEDCT_2005_07_31:54225002] +synonym: "malignant hypertensive heart disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194764008] +is_obsolete: true + +[Term] +id: DOID:5480 +name: ovarian endometrioid adenofibroma +xref: NCI2009_04D:C27287 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:5482 +name: cystadenofibroma +def: "An adenofibroma that is composed_of epithelial ovarian tissue." [url:http\://www.ajronline.org/cgi/content/full/182/5/1259] +synonym: "Cystadenofibroma, NOS" EXACT [SNOMEDCT_2005_07_31:2962009] +xref: MSH:D062625 +xref: NCI:C8985 +xref: NCI:C8987 +xref: SNOMEDCT_US_2015_03_01:2962009 +xref: SNOMEDCT_US_2015_03_01:58161009 +xref: UMLS_CUI:C0334317 +is_a: DOID:2683 ! adenofibroma + +[Term] +id: DOID:5484 +name: fibrous synovial sarcoma +synonym: "fibrous sarcoma of Synovium" EXACT [NCI2004_11_17:C6533] +xref: NCI:C6533 +xref: UMLS_CUI:C1333616 +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5485 +name: synovial sarcoma +def: "A synovium cancer which develops in the synovial membrane of the joints." [url:http\://en.wikipedia.org/wiki/Synovial_sarcoma, url:http\://www.cancer.gov/dictionary?cdrid=44626] +comment: Xref MGI. +subset: DO_MGI_slim +xref: MSH:D013584 +xref: NCI:C3400 +xref: OMIM:300813 +xref: OMIM:312820 +xref: SNOMEDCT_US_2015_03_01:302851001 +xref: SNOMEDCT_US_2015_03_01:63211008 +xref: UMLS_CUI:C0039101 +is_a: DOID:2706 ! synovium cancer + +[Term] +id: DOID:5486 +name: metastatic synovial sarcoma +is_obsolete: true + +[Term] +id: DOID:5487 +name: spindle cell synovial sarcoma +synonym: "Synovial sarcoma with spindle cell Components" EXACT [NCI2004_11_17:C4277] +synonym: "Synovial sarcoma, monophasic fibrous" EXACT [SNOMEDCT_2005_07_31:37206003] +xref: NCI:C4277 +xref: SNOMEDCT_US_2015_03_01:37206003 +xref: UMLS_CUI:C0334505 +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5488 +name: mediastinum synovial sarcoma +def: "A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/] +synonym: "Synovial sarcoma of mediastinum" EXACT [NCI2004_11_17:C6618] +xref: NCI:C6618 +xref: UMLS_CUI:C1334681 +is_a: DOID:4050 ! mediastinum sarcoma +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5489 +name: adult synovial sarcoma +def: "An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system." [url:http\://sarcomahelp.org/learning_center/synovial_sarcoma.html] +is_obsolete: true + +[Term] +id: DOID:5491 +name: pediatric synovial sarcoma +is_obsolete: true + +[Term] +id: DOID:5492 +name: biphasic synovial sarcoma +synonym: "Biphasic sarcoma of Synovium" EXACT [NCI2004_11_17:C4279] +synonym: "Synovial sarcoma, biphasic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18588008] +xref: NCI:C4279 +xref: SNOMEDCT_US_2015_03_01:18588008 +xref: UMLS_CUI:C0334507 +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5493 +name: recurrent synovial sarcoma +synonym: "relapsed Synovial sarcoma" EXACT [NCI2004_11_17:C8827] +is_obsolete: true + +[Term] +id: DOID:5494 +name: epithelioid cell synovial sarcoma +synonym: "epithelioid Synovial sarcoma" EXACT [NCI2004_11_17:C4278] +synonym: "Synovial sarcoma, epithelioid cell (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:56422000] +xref: NCI:C4278 +xref: SNOMEDCT_US_2015_03_01:56422000 +xref: UMLS_CUI:C0334506 +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5495 +name: monophasic synovial sarcoma +synonym: "Monophasic sarcoma of Synovium" EXACT [NCI2004_11_17:C6534] +xref: NCI:C6534 +xref: UMLS_CUI:C1334801 +is_a: DOID:5485 ! synovial sarcoma + +[Term] +id: DOID:5496 +name: nonmetastatic synovial sarcoma +synonym: "Non-metastatic Synovial sarcoma" EXACT [NCI2004_11_17:C8826] +is_obsolete: true + +[Term] +id: DOID:5497 +name: Hepadnaviridae infectious disease +def: "A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." [url:http\://en.wikipedia.org/wiki/Hepadnaviridae] +is_obsolete: true + +[Term] +id: DOID:5500 +name: cellular ependymoma +xref: MSH:D004806 +xref: NCI:C4713 +xref: NCI:C4714 +xref: SNOMEDCT_US_2015_03_01:253067007 +xref: SNOMEDCT_US_2015_03_01:253068002 +xref: SNOMEDCT_US_2015_03_01:57706008 +xref: UMLS_CUI:C1384403 +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:5501 +name: Pediculus humanus capitis infestation +def: "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability." [url:http\://en.wikipedia.org/wiki/Head-louse_infestation, url:http\://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm] +synonym: "head louse infestation" EXACT [SNOMEDCT_2005_07_31:271544006] +synonym: "Pediculosis capitis (disorder)" EXACT [SNOMEDCT_2005_07_31:81000006] +synonym: "Pediculus capitis" EXACT [MTHICD9_2006:132.0] +synonym: "Pediculus capitis" EXACT [SNOMEDCT_2005_07_31:243682006] +synonym: "Pediculus capitis [head louse]" EXACT [ICD9CM_2006:132.0] +synonym: "Pediculus capitis infestation" EXACT [] +xref: ICD10CM:B85.0 +xref: ICD9CM:132.0 +xref: SNOMEDCT_US_2015_03_01:243682006 +xref: SNOMEDCT_US_2015_03_01:271544006 +xref: SNOMEDCT_US_2015_03_01:81000006 +xref: UMLS_CUI:C0030757 +is_a: DOID:5502 ! lice infestation + +[Term] +id: DOID:5502 +name: lice infestation +alt_id: DOID:5490 +alt_id: DOID:5523 +def: "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera." [url:http\://en.wikipedia.org/wiki/Pediculosis] +synonym: "Infestation by Pediculus (disorder)" EXACT [SNOMEDCT_2005_07_31:20848007] +synonym: "Lice infestation, NOS" EXACT [SNOMEDCT_2005_07_31:74949007] +synonym: "Louse infestation (& [pediculosis and phthirus] or [lice])" EXACT [SNOMEDCT_2005_07_31:187207005] +synonym: "Louse infestation (disorder)" EXACT [SNOMEDCT_2005_07_31:414618002] +synonym: "mixed pediculosis" EXACT [] +synonym: "mixed pediculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:91566005] +synonym: "mixed pediculosis infestation" EXACT [ICD9CM_2006:132.3] +synonym: "pediculosis" EXACT [] +synonym: "Pediculosis + lice NOS" EXACT [SNOMEDCT_2005_07_31:266223008] +synonym: "Pediculosis + lice NOS" EXACT [SNOMEDCT_2005_07_31:154417001] +synonym: "pediculosis and phthirus infection" EXACT [] +synonym: "Pediculosis and phthirus infection NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187213001] +synonym: "Pediculosis and phthirus infections (disorder)" EXACT [SNOMEDCT_2005_07_31:266166005] +synonym: "Pediculosis and phthirus infestation" EXACT [ICD9CM_2006:132] +synonym: "Pediculosis, unspecified" EXACT [ICD9CM_2006:132.9] +synonym: "Pediculosis, unspecified" EXACT [SNOMEDCT_2005_07_31:187212006] +synonym: "Pediculosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187545007] +xref: ICD10CM:B85.2 +xref: ICD9CM:132.9 +xref: MSH:D010373 +xref: SNOMEDCT_US_2015_03_01:154417001 +xref: SNOMEDCT_US_2015_03_01:187207005 +xref: SNOMEDCT_US_2015_03_01:187212006 +xref: SNOMEDCT_US_2015_03_01:187545007 +xref: SNOMEDCT_US_2015_03_01:20848007 +xref: SNOMEDCT_US_2015_03_01:266223008 +xref: SNOMEDCT_US_2015_03_01:414618002 +xref: SNOMEDCT_US_2015_03_01:74949007 +xref: UMLS_CUI:C0030756 +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:5503 +name: spinal cord ependymoma +def: "A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal." [url:http\://www.cancer.gov/dictionary?CdrID=46432] +subset: DO_cancer_slim +synonym: "Ependymal neoplasm of the Spinal Cord" EXACT [NCI2004_11_17:C3875] +xref: NCI:C3875 +xref: SNOMEDCT_US_2015_03_01:254949006 +xref: UMLS_CUI:C0238432 +is_a: DOID:3185 ! spinal cord glioma + +[Term] +id: DOID:5504 +name: tanycytic ependymoma +xref: NCI:C6903 +xref: SNOMEDCT_US_2015_03_01:397378002 +xref: SNOMEDCT_US_2015_03_01:57706008 +xref: UMLS_CUI:C1370500 +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:5505 +name: papillary ependymoma +xref: MSH:D004806 +xref: NCI:C4319 +xref: SNOMEDCT_US_2015_03_01:112686007 +xref: SNOMEDCT_US_2015_03_01:128839002 +xref: UMLS_CUI:C0334578 +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:5507 +name: clear cell ependymoma +is_a: DOID:4844 ! benign ependymoma + +[Term] +id: DOID:5508 +name: brain stem ependymoma +synonym: "Ependymoma of the Brainstem" EXACT [NCI2004_11_17:C5098] +xref: NCI:C5098 +xref: UMLS_CUI:C1332609 +is_a: DOID:4202 ! brain stem glioma + +[Term] +id: DOID:5509 +name: pediatric ependymoma +xref: NCI2009_04D:C8578 +is_a: DOID:5074 ! malignant ependymoma + +[Term] +id: DOID:551 +name: toxic pneumonitis +alt_id: DOID:549 +alt_id: DOID:550 +alt_id: DOID:553 +alt_id: DOID:554 +def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." [url:http\://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306] +synonym: "acute chemical fume pulmonary edema" EXACT [SNOMEDCT_2005_07_31:155594004] +synonym: "acute chemical pulmonary edema" EXACT [] +synonym: "acute pulmonary edema due to fumes and vapors" EXACT [ICD9CM_2006:506.1] +synonym: "bronchitis and pneumonitis due to fumes and vapors" EXACT [] +synonym: "Chemical Pneumonitis" EXACT [NCI2004_11_17:C35316] +synonym: "Pneumonitis due to fumes and/or vapors (disorder)" EXACT [SNOMEDCT_2005_07_31:22343003] +xref: ICD9CM:506.9 +xref: UMLS_CUI:C0041881 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:5510 +name: pineal dysgerminoma +xref: NCI:C7169 +xref: UMLS_CUI:C1335415 +is_a: DOID:1660 ! malignant pineal area germ cell neoplasm + +[Term] +id: DOID:5511 +name: dysgerminoma of ovary +def: "A dysgerminoma that is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] +synonym: "Dysgerminoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254874008] +synonym: "Ovarian Dysgerminoma" EXACT [NCI2004_11_17:C8106] +xref: NCI:C8106 +xref: SNOMEDCT_US_2015_03_01:254874008 +xref: UMLS_CUI:C0346185 +is_a: DOID:4441 ! dysgerminoma + +[Term] +id: DOID:5513 +name: Pediculus humanus corporis infestation +def: "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000838.htm] +synonym: "body louse infestation" EXACT [] +synonym: "Pediculus corporis" EXACT [MTHICD9_2006:132.1] +synonym: "Pediculus corporis [body louse]" EXACT [ICD9CM_2006:132.1] +synonym: "Pediculus humanus infestation" EXACT [SNOMEDCT_2005_07_31:25188002] +xref: ICD10CM:B85.1 +xref: ICD9CM:132.1 +xref: SNOMEDCT_US_2015_03_01:25188002 +xref: UMLS_CUI:C0030758 +is_a: DOID:5502 ! lice infestation + +[Term] +id: DOID:5514 +name: breast squamous cell carcinoma +alt_id: DOID:7300 +synonym: "breast primary squamous cell carcinoma" EXACT [] +synonym: "primary squamous cell carcinoma of breast" RELATED [] +synonym: "primary squamous cell carcinoma of the breast" EXACT [NCI2004_11_17:C5179] +synonym: "SCC of breast" EXACT [NCI2004_11_17:C5177] +synonym: "squamous cell carcinoma of breast" RELATED [] +xref: NCI2009_04D:C5177 +xref: NCI:C5177 +xref: UMLS_CUI:C1336079 +is_a: DOID:4680 ! breast metaplastic carcinoma + +[Term] +id: DOID:5515 +name: nasal cavity squamous cell carcinoma +def: "A nasal cavity carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "squamous cell carcinoma of nasal cavity" RELATED [] +synonym: "squamous cell carcinoma of the nasal cavity" EXACT [NCI2004_11_17:C8192] +xref: NCI:C8192 +xref: UMLS_CUI:C0280333 +is_a: DOID:4931 ! nasal cavity carcinoma + +[Term] +id: DOID:5516 +name: gastric squamous cell carcinoma +synonym: "squamous cell carcinoma of stomach" EXACT [NCI2004_11_17:C5475] +xref: NCI:C5475 +xref: UMLS_CUI:C1333789 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:5517 +name: stomach carcinoma +def: "A stomach cancer that is located_in the stomach." [url:http\://en.wikipedia.org/wiki/Stomach_cancer] +synonym: "cancer of the stomach" EXACT [NCI2004_11_17:C4911] +synonym: "carcinoma of stomach" EXACT [SNOMEDCT_2005_07_31:154446008] +synonym: "carcinoma of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:255080008] +synonym: "carcinoma of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:372143007] +synonym: "gastric carcinoma" EXACT [] +xref: EFO:0000178 +xref: NCI:C4911 +xref: SNOMEDCT_US_2015_03_01:154446008 +xref: SNOMEDCT_US_2015_03_01:255080008 +xref: SNOMEDCT_US_2015_03_01:372143007 +xref: UMLS_CUI:C0699791 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:5518 +name: penis squamous cell carcinoma +alt_id: DOID:8008 +def: "A penis carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "Epidermoid cell carcinoma of penis" EXACT [NCI2004_11_17:C7729] +synonym: "squamous cell carcinoma of penis" RELATED [] +xref: NCI:C6979 +xref: NCI:C7729 +xref: SNOMEDCT_US_2015_03_01:403468003 +xref: UMLS_CUI:C0238348 +xref: UMLS_CUI:C1336081 +is_a: DOID:3449 ! penis carcinoma + +[Term] +id: DOID:5519 +name: colon squamous cell carcinoma +synonym: "Colonic Epidermoid carcinoma" EXACT [NCI2004_11_17:C5490] +synonym: "squamous cell carcinoma of colon" RELATED [] +xref: NCI:C5490 +xref: UMLS_CUI:C1333100 +is_a: DOID:1520 ! colon carcinoma + +[Term] +id: DOID:552 +name: pneumonia +alt_id: DOID:10509 +alt_id: DOID:11742 +alt_id: DOID:5871 +def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." [url:http\://en.wikipedia.org/wiki/Pneumonia] +synonym: "acute pneumonia" EXACT [] +xref: MSH:D011014 +xref: NCI:C3333 +xref: SNOMEDCT_US_2015_03_01:155548002 +xref: SNOMEDCT_US_2015_03_01:155552002 +xref: SNOMEDCT_US_2015_03_01:155558003 +xref: SNOMEDCT_US_2015_03_01:233604007 +xref: SNOMEDCT_US_2015_03_01:266391003 +xref: SNOMEDCT_US_2015_03_01:274103002 +xref: SNOMEDCT_US_2015_03_01:60363000 +xref: UMLS_CUI:C0032285 +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:5520 +name: head and neck squamous cell carcinoma +def: "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." [url:http\://atlasgeneticsoncology.org/Tumors/HeadNeckSCCID5090.html, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=597171] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "carcinoma of the head and neck" EXACT [NCI2004_11_17:C35850] +synonym: "squamous cell carcinoma of the head and neck" EXACT [NCI2004_11_17:C34447] +synonym: "squamous cell carcinomas of head and neck" EXACT [] +xref: MSH:C535575 +xref: NCI:C34447 +xref: NCI:C35850 +xref: OMIM:275355 +xref: UMLS_CUI:C1168401 +is_a: DOID:1542 ! head and neck carcinoma + +[Term] +id: DOID:5521 +name: keratinizing squamous cell carcinoma +def: "A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris." [url:http\://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false] +synonym: "keratinizing epidermoid carcinoma" EXACT [] +synonym: "Keratinizing squamous cell carcinoma" EXACT [NCI2004_11_17:C4105] +synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18048008] +xref: NCI:C4105 +xref: SNOMEDCT_US_2015_03_01:18048008 +xref: SNOMEDCT_US_2015_03_01:189568009 +xref: UMLS_CUI:C0334247 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:5522 +name: basaloid squamous cell carcinoma +def: "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma." [url:http\://www.ncbi.nlm.nih.gov/pubmed/19738459] +synonym: "Basaloid carcinoma" EXACT [NCI2004_11_17:C4121] +synonym: "Basaloid carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:5843004] +synonym: "Basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128634009] +xref: NCI:C54244 +xref: SNOMEDCT_US_2015_03_01:128634009 +xref: UMLS_CUI:C1266005 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:5524 +name: adenoid squamous cell carcinoma +alt_id: DOID:6593 +def: "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis." [url:http\://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma] +synonym: "Acantholytic squamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403901001] +synonym: "adenoacanthoma" EXACT [] +synonym: "adenocarcinoma with squamous metaplasia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:15176003] +synonym: "adenoid squamous cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:85956000] +synonym: "Pseudoglandular squamous carcinoma" EXACT [NCI2004_11_17:C4106] +xref: NCI:C4106 +xref: NCI:C4200 +xref: SNOMEDCT_US_2015_03_01:15176003 +xref: SNOMEDCT_US_2015_03_01:403901001 +xref: SNOMEDCT_US_2015_03_01:85956000 +xref: UMLS_CUI:C0334250 +xref: UMLS_CUI:C0334393 +is_a: DOID:1749 ! squamous cell carcinoma + +[Term] +id: DOID:5525 +name: anal squamous cell carcinoma +def: "An anal carcinoma that arises near the squamocolumnar junction." [url:http\://en.wikipedia.org/wiki/Anal_cancer] +synonym: "Epidermoid anal carcinoma" EXACT [NCI2004_11_17:C9161] +xref: NCI:C9161 +xref: SNOMEDCT_US_2015_03_01:255084004 +xref: UMLS_CUI:C1412036 +is_a: DOID:4908 ! anal carcinoma + +[Term] +id: DOID:5526 +name: middle ear squamous cell carcinoma +def: "A middle ear carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +subset: DO_cancer_slim +synonym: "Epidermoid carcinoma of the middle ear" EXACT [NCI2004_11_17:C6086] +synonym: "squamous cell carcinoma of middle ear" RELATED [] +xref: NCI:C6086 +xref: UMLS_CUI:C1334762 +is_a: DOID:4893 ! middle ear carcinoma + +[Term] +id: DOID:5527 +name: ampulla of Vater squamous cell carcinoma +def: "An ampulla of Vater carcinoma that derives_from epithelial squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +xref: NCI:C27417 +xref: UMLS_CUI:C1332251 +is_a: DOID:4932 ! ampulla of Vater carcinoma + +[Term] +id: DOID:5528 +name: rectum squamous cell carcinoma +synonym: "squamous carcinoma of rectum" EXACT [NCI2004_11_17:C5554] +synonym: "squamous cell carcinoma of the rectum" RELATED [] +xref: NCI:C5554 +xref: UMLS_CUI:C1335690 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:5529 +name: lacrimal gland squamous cell carcinoma +synonym: "Epidermoid carcinoma of the lacrimal gland" EXACT [NCI2004_11_17:C6092] +synonym: "squamous cell carcinoma of lacrimal gland" RELATED [] +xref: NCI:C6092 +xref: UMLS_CUI:C1334360 +is_a: DOID:293 ! lacrimal gland carcinoma + +[Term] +id: DOID:5530 +name: thymus squamous cell carcinoma +synonym: "Epidermoid Thymic carcinoma" EXACT [NCI2004_11_17:C6455] +xref: NCI:C6455 +xref: UMLS_CUI:C1336082 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:5531 +name: ovarian squamous cell carcinoma +xref: NCI2009_04D:C40093 +is_a: DOID:4001 ! ovarian carcinoma + +[Term] +id: DOID:5532 +name: ovarian squamous cell neoplasm +xref: NCI:C40092 +xref: UMLS_CUI:C1518739 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:5533 +name: endometrial squamous cell carcinoma +synonym: "squamous cell carcinoma of Endometrium" EXACT [NCI2004_11_17:C8719] +xref: NCI:C8719 +xref: UMLS_CUI:C1333396 +is_a: DOID:2871 ! endometrial carcinoma + +[Term] +id: DOID:5534 +name: renal pelvis squamous cell carcinoma +synonym: "Epidermoid carcinoma of the kidney Pelvis" EXACT [NCI2004_11_17:C7732] +synonym: "squamous cell carcinoma of renal pelvis" RELATED [] +xref: NCI:C7732 +xref: UMLS_CUI:C0238409 +is_a: DOID:4919 ! renal pelvis carcinoma + +[Term] +id: DOID:5535 +name: gallbladder squamous cell carcinoma +synonym: "Epidermoid gallbladder carcinoma" EXACT [NCI2004_11_17:C9170] +synonym: "squamous cell carcinoma of the gallbladder" RELATED [] +xref: NCI:C9170 +xref: UMLS_CUI:C0279658 +is_a: DOID:4948 ! gallbladder carcinoma + +[Term] +id: DOID:5536 +name: sarcomatoid squamous cell skin carcinoma +synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [NCI2004_11_17:C27084] +synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [NCI2004_11_17:C4666] +synonym: "spindle cell squamous carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254653005] +synonym: "spindle cell squamous cell carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403900000] +synonym: "squamous cell carcinoma, sarcomatoid" EXACT [SNOMEDCT_2005_07_31:10288008] +xref: NCI:C27084 +xref: NCI:C4666 +xref: SNOMEDCT_US_2015_03_01:10288008 +xref: SNOMEDCT_US_2015_03_01:254653005 +xref: SNOMEDCT_US_2015_03_01:403900000 +xref: UMLS_CUI:C0349656 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:5537 +name: squamous cell bile duct carcinoma +synonym: "bile duct squamous cell carcinoma" EXACT [NCI2004_11_17:C5777] +xref: NCI:C5777 +xref: UMLS_CUI:C0861861 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:5538 +name: external ear squamous cell carcinoma +synonym: "Epidermoid carcinoma of the External ear" EXACT [NCI2004_11_17:C6083] +synonym: "squamous cell carcinoma of external ear" RELATED [] +xref: NCI:C6083 +xref: UMLS_CUI:C1333494 +is_a: DOID:4288 ! external ear carcinoma + +[Term] +id: DOID:5539 +name: ureter squamous cell carcinoma +synonym: "ureteral Epidermoid carcinoma" EXACT [NCI2004_11_17:C6154] +xref: NCI:C6154 +xref: UMLS_CUI:C1336879 +is_a: DOID:4939 ! ureter carcinoma + +[Term] +id: DOID:5540 +name: fallopian tube squamous cell carcinoma +synonym: "squamous cell carcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6282] +xref: NCI:C6282 +xref: UMLS_CUI:C1333596 +is_a: DOID:1963 ! fallopian tube carcinoma + +[Term] +id: DOID:5545 +name: anal neuroendocrine tumor +synonym: "neuroendocrine tumor of anus" EXACT [NCI2004_11_17:C5603] +xref: NCI:C5603 +xref: UMLS_CUI:C1332273 +is_a: DOID:4551 ! anus neoplasm + +[Term] +id: DOID:5546 +name: femoral cancer +def: "A bone cancer that is located_in the femur." [url:http\://lib.bioinfo.pl/meid\:61888] +synonym: "femoral neoplasm" RELATED [] +synonym: "neoplasm of femur" EXACT [SNOMEDCT_2005_07_31:126583006] +xref: MSH:D005266 +xref: SNOMEDCT_US_2015_03_01:126583006 +xref: UMLS_CUI:C0015807 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:5547 +name: pulmonary artery choriocarcinoma +synonym: "Syncytioma of pulmonary artery" EXACT [NCI2004_11_17:C5381] +xref: NCI:C5381 +xref: UMLS_CUI:C1335571 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:5549 +name: CNS choriocarcinoma +synonym: "Choriocarcinoma of CNS" EXACT [NCI2004_11_17:C7012] +is_obsolete: true + +[Term] +id: DOID:5550 +name: choriocarcinoma of ovary +synonym: "Choriocarcinoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254870004] +synonym: "Ovarian Choriocarcinoma" EXACT [NCI2004_11_17:C4515] +xref: NCI:C4515 +xref: SNOMEDCT_US_2015_03_01:254870004 +xref: UMLS_CUI:C0346181 +is_a: DOID:2155 ! malignant ovarian germ cell neoplasm + +[Term] +id: DOID:5551 +name: choriocarcinoma of the testis +synonym: "testicular Choriocarcinoma" EXACT [NCI2004_11_17:C7733] +xref: NCI:C7733 +xref: UMLS_CUI:C0238449 +is_a: DOID:3594 ! choriocarcinoma + +[Term] +id: DOID:5552 +name: mediastinum choriocarcinoma +synonym: "Choriocarcinoma of mediastinum" EXACT [NCI2004_11_17:C6440] +is_obsolete: true + +[Term] +id: DOID:5553 +name: pineal region choriocarcinoma +synonym: "Pineal Choriocarcinoma" EXACT [NCI2004_11_17:C6759] +xref: NCI:C6759 +xref: UMLS_CUI:C1335414 +is_a: DOID:1660 ! malignant pineal area germ cell neoplasm + +[Term] +id: DOID:5556 +name: testicular malignant germ cell cancer +synonym: "malignant germ cell tumor of testis" EXACT [NCI2004_11_17:C9063] +xref: NCI:C9063 +xref: UMLS_CUI:C0855197 +is_a: DOID:5557 ! testicular germ cell cancer + +[Term] +id: DOID:5557 +name: testicular germ cell cancer +def: "A testicular cancer that has_material_basis_in germ cells." [url:http\://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer, url:http\://www.cancer.gov/dictionary?CdrID=445090, url:http\://www.cancer.gov/dictionary?CdrID=695185] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "germ cell tumor of testis" EXACT [NCI2004_11_17:C8591] +synonym: "testicular germ cell neoplasm" RELATED [] +xref: MSH:C563236 +xref: NCI:C8591 +xref: OMIM:273300 +xref: OMIM:300228 +xref: ORDO:3636504 +xref: UMLS_CUI:C1336708 +is_a: DOID:2998 ! testicular cancer + +[Term] +id: DOID:5559 +name: mediastinal cancer +alt_id: DOID:9914 +def: "A thoracic cancer that is located_in the mediastinum." [url:http\://en.wikipedia.org/wiki/Mediastinal] +subset: TopNodes_DOcancerslim +synonym: "mediastinal tumor" EXACT [NCI2004_11_17:C3221] +synonym: "mediastinum cancer" EXACT [] +synonym: "neoplasm of mediastinum (disorder)" EXACT [SNOMEDCT_2005_07_31:126725000] +synonym: "Tumour of mediastinum" EXACT [SNOMEDCT_2005_07_31:94147001] +xref: ICD10CM:C38.3 +xref: ICD9CM:164.9 +xref: MSH:D008479 +xref: NCI:C3221 +xref: NCI:C3549 +xref: SNOMEDCT_US_2015_03_01:126725000 +xref: SNOMEDCT_US_2015_03_01:187889002 +xref: SNOMEDCT_US_2015_03_01:190097009 +xref: SNOMEDCT_US_2015_03_01:363494000 +xref: SNOMEDCT_US_2015_03_01:93891008 +xref: SNOMEDCT_US_2015_03_01:94147001 +xref: UMLS_CUI:C0025063 +xref: UMLS_CUI:C0153504 +is_a: DOID:5093 ! thoracic cancer + +[Term] +id: DOID:5560 +name: mediastinal mesenchymal tumor +synonym: "soft tissue tumor of mediastinum" EXACT [NCI2004_11_17:C6637] +xref: NCI:C6637 +xref: UMLS_CUI:C1334669 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:5561 +name: gastric teratoma +synonym: "teratoma of stomach" EXACT [NCI2004_11_17:C5259] +xref: NCI:C5259 +xref: UMLS_CUI:C1333790 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:5562 +name: dermoid cyst with malignant transformation +synonym: "Dermoid cyst with malignant transformation (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189849004] +synonym: "teratoma with malignant Transformation" EXACT [NCI2004_11_17:C4289] +synonym: "teratoma with malignant transformation (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:88334008] +synonym: "teratoma with malignant transformation [dup] (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:302854009] +is_obsolete: true + +[Term] +id: DOID:5563 +name: malignant teratoma +alt_id: DOID:6106 +synonym: "Immature teratoma" EXACT [NCI2004_11_17:C4286] +synonym: "malignant Extragonadal teratoma" EXACT [NCI2004_11_17:C8884] +synonym: "primary malignant extragonadal teratoma" EXACT [] +xref: MSH:D013724 +xref: NCI:C4286 +xref: NCI:C8884 +xref: SNOMEDCT_US_2015_03_01:189847002 +xref: SNOMEDCT_US_2015_03_01:19467007 +xref: UMLS_CUI:C0334520 +xref: UMLS_CUI:C0855163 +is_a: DOID:3307 ! teratoma + +[Term] +id: DOID:5564 +name: fallopian tube teratoma +xref: NCI:C40131 +xref: UMLS_CUI:C1517127 +is_a: DOID:5324 ! fallopian tube germ cell cancer + +[Term] +id: DOID:5565 +name: adult teratoma +synonym: "adult teratoma, NOS" EXACT [SNOMEDCT_2005_07_31:42717009] +xref: NCI:C9013 +xref: SNOMEDCT_US_2015_03_01:42717009 +xref: UMLS_CUI:C1368898 +is_a: DOID:3307 ! teratoma + +[Term] +id: DOID:5566 +name: mature teratoma +synonym: "Mature teratoma" EXACT [SNOMEDCT_2005_07_31:42717009] +synonym: "Mature teratoma" EXACT [SNOMEDCT_2005_07_31:55818009] +xref: MSH:D013724 +xref: NCI:C9015 +xref: SNOMEDCT_US_2015_03_01:42717009 +xref: SNOMEDCT_US_2015_03_01:55818009 +xref: UMLS_CUI:C1368910 +is_a: DOID:3307 ! teratoma + +[Term] +id: DOID:5567 +name: ovarian germ cell teratoma +synonym: "germ cell teratoma of Ovary" EXACT [NCI2004_11_17:C8110] +xref: NCI:C8110 +xref: UMLS_CUI:C0280131 +is_a: DOID:2156 ! ovarian germ cell cancer + +[Term] +id: DOID:5568 +name: mediastinum teratoma +synonym: "teratoma of mediastinum" EXACT [NCI2004_11_17:C6438] +xref: NCI:C6438 +xref: UMLS_CUI:C1334682 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:5569 +name: malignant syringoma +synonym: "Microcystic Adnexal carcinoma" EXACT [NCI2004_11_17:C7581] +synonym: "Microcystic adnexal carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254712007] +synonym: "Syringomatous carcinoma" EXACT [SNOMEDCT_2005_07_31:128896007] +is_a: DOID:4921 ! eccrine sweat gland cancer + +[Term] +id: DOID:557 +name: kidney disease +def: "A urinary system disease that is located_in the kidney." [url:http\://www.nlm.nih.gov/medlineplus/kidneydiseases.html] +synonym: "nephropathy" EXACT [] +xref: EFO:0003086 +xref: ICD10CM:N08 +xref: ICD10CM:N28.9 +xref: MSH:D007674 +xref: NCI:C3149 +xref: NCI:C34843 +xref: SNOMEDCT_US_2015_03_01:155871008 +xref: SNOMEDCT_US_2015_03_01:266612003 +xref: SNOMEDCT_US_2015_03_01:266624005 +xref: SNOMEDCT_US_2015_03_01:266627003 +xref: SNOMEDCT_US_2015_03_01:274108006 +xref: SNOMEDCT_US_2015_03_01:90708001 +xref: UMLS_CUI:C0022658 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:5570 +name: malignant acrospiroma +synonym: "anaplastic syringoma" EXACT [] +synonym: "Eccrine ductal carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:400208002] +synonym: "Eccrine ductal carcinoma of skin" EXACT [SNOMEDCT_2005_07_31:403939009] +synonym: "malignant Acrospiroma" EXACT [NCI2004_11_17:C27532] +xref: NCI:C43345 +xref: SNOMEDCT_US_2015_03_01:400208002 +xref: SNOMEDCT_US_2015_03_01:403939009 +xref: UMLS_CUI:C1260964 +is_a: DOID:2095 ! sweat gland cancer + +[Term] +id: DOID:5572 +name: Beckwith-Wiedemann syndrome +def: "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations." [url:http\://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome, url:http\://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q87.3 +xref: MSH:D001506 +xref: NCI:C34415 +xref: OMIM:130650 +xref: ORDO:116 +xref: SNOMEDCT_US_2015_03_01:81780002 +xref: UMLS_CUI:C0004903 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:5573 +name: classical swine fever +def: "A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf] +synonym: "Hog cholera (disorder)" EXACT [SNOMEDCT_2005_07_31:28044006] +is_obsolete: true + +[Term] +id: DOID:5574 +name: VIPoma +synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [] +synonym: "Vasoactive intestinal peptide-secreting tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:253005002] +synonym: "VIP- Secreting tumor" EXACT [NCI2004_11_17:C26749] +synonym: "Vipoma, malignant" EXACT [SNOMEDCT_2005_07_31:31131002] +xref: MSH:D003969 +xref: NCI:C26749 +xref: SNOMEDCT_US_2015_03_01:253005002 +xref: SNOMEDCT_US_2015_03_01:447643008 +xref: UMLS_CUI:C0011993 +is_a: DOID:169 ! neuroendocrine tumor + +[Term] +id: DOID:5575 +name: delayed puberty +synonym: "Delay in sexual development and/or puberty" EXACT [SNOMEDCT_2005_07_31:123526007] +synonym: "Delayed puberty" EXACT [MTHICD9_2006:259.0] +synonym: "Delayed puberty" EXACT [SNOMEDCT_2005_07_31:39760001] +synonym: "delayed puberty" EXACT [CSP2005:2586-8835] +synonym: "Delayed puberty (& [NOS])" EXACT [SNOMEDCT_2005_07_31:154715005] +synonym: "Delayed puberty (disorder)" EXACT [SNOMEDCT_2005_07_31:400003000] +synonym: "Delayed puberty NOS" EXACT [SNOMEDCT_2005_07_31:267487003] +is_obsolete: true + +[Term] +id: DOID:5576 +name: inhibited male orgasm +synonym: "Inhibited male orgasm (disorder)" EXACT [SNOMEDCT_2005_07_31:81903006] +synonym: "male Orgasmic disorder" EXACT [NCI2004_11_17:C34959] +xref: ICD10CM:F52.32 +xref: NCI:C34959 +xref: SNOMEDCT_US_2015_03_01:153261000119109 +xref: SNOMEDCT_US_2015_03_01:191795002 +xref: SNOMEDCT_US_2015_03_01:81903006 +xref: UMLS_CUI:C0033949 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:5577 +name: gastrinoma +def: "A neuroendocrine tumor that results_in an overproduction of gastric acid." [url:http\://www.cancer.gov/dictionary?CdrID=44239] +synonym: "Gastrin cell tumour" EXACT [SNOMEDCT_2005_07_31:16189002] +synonym: "Gastrin Secreting tumor" EXACT [NCI2004_11_17:C3050] +synonym: "malignant gastrinoma" EXACT [] +xref: MSH:D015408 +xref: NCI:C3050 +xref: SNOMEDCT_US_2015_03_01:134156006 +xref: SNOMEDCT_US_2015_03_01:16189002 +xref: SNOMEDCT_US_2015_03_01:302824004 +xref: UMLS_CUI:C0017150 +is_a: DOID:169 ! neuroendocrine tumor + +[Term] +id: DOID:5578 +name: small intestinal gastrinoma +synonym: "small intestinal G-cell gastrin producing tumor" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5579 +name: gastric gastrinoma +subset: DO_cancer_slim +synonym: "gastric G-cell gastrin producing tumor" EXACT [] +xref: NCI:C27444 +xref: UMLS_CUI:C1333767 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:558 +name: acute pyelonephritis without lesion of renal medullary necrosis +is_obsolete: true + +[Term] +id: DOID:5580 +name: pancreatic gastrinoma +synonym: "pancreatic G-cell tumor" EXACT [NCI2004_11_17:C9069] +xref: NCI:C9069 +xref: NCI:C95596 +xref: UMLS_CUI:C1368066 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:5583 +name: lung giant cell carcinoma +alt_id: DOID:5584 +def: "A lung carcinoma that is located_in large undifferentiated cells." [url:http\://chemo.net/large.htm, url:http\://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma] +synonym: "Giant cell carcinoma" EXACT [NCI2004_11_17:C3779] +synonym: "Giant cell lung carcinoma" EXACT [NCI2004_11_17:C4452] +xref: MSH:D018286 +xref: NCI:C3779 +xref: NCI:C4452 +xref: SNOMEDCT_US_2015_03_01:254631008 +xref: SNOMEDCT_US_2015_03_01:42596004 +xref: UMLS_CUI:C0206703 +xref: UMLS_CUI:C0345960 +is_a: DOID:4556 ! lung large cell carcinoma + +[Term] +id: DOID:5585 +name: Ferguson-Smith tumor +synonym: "Multiple self-healing epithelioma of Ferguson-Smith (disorder)" EXACT [SNOMEDCT_2005_07_31:254659009] +xref: NCI:C4461 +xref: SNOMEDCT_US_2015_03_01:254659009 +xref: UMLS_CUI:C0345982 +is_a: DOID:3149 ! keratoacanthoma + +[Term] +id: DOID:5587 +name: Volkmann contracture +synonym: "Volkmann's ischemic contracture" EXACT [ICD9CM_2006:958.6] +xref: ICD10CM:T79.6 +xref: ICD9CM:958.6 +xref: MSH:D054061 +xref: NCI:C35130 +xref: SNOMEDCT_US_2015_03_01:111247001 +xref: SNOMEDCT_US_2015_03_01:157667008 +xref: UMLS_CUI:C0042951 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:5588 +name: lung papillary adenocarcinoma +synonym: "Papillary adenocarcinoma of the lung" EXACT [NCI2004_11_17:C5650] +xref: NCI:C5650 +xref: UMLS_CUI:C1335325 +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:559 +name: acute pyelonephritis +synonym: "acute pyelonephritis (disorder)" EXACT [SNOMEDCT_2005_07_31:36689008] +synonym: "acute pyelonephritis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197771007] +xref: ICD10CM:N10 +xref: ICD9CM:590.1 +xref: SNOMEDCT_US_2015_03_01:155862004 +xref: SNOMEDCT_US_2015_03_01:197771007 +xref: SNOMEDCT_US_2015_03_01:22352007 +xref: SNOMEDCT_US_2015_03_01:266620001 +xref: SNOMEDCT_US_2015_03_01:36689008 +xref: UMLS_CUI:C0520575 +is_a: DOID:11400 ! pyelonephritis + +[Term] +id: DOID:5590 +name: aggressive digital papillary adenocarcinoma +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:5591 +name: eccrine papillary adenocarcinoma +synonym: "Digital papillary adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:128898008] +xref: SNOMEDCT_US_2015_03_01:128898008 +xref: UMLS_CUI:C1367774 +is_a: DOID:4920 ! eccrine adenocarcinoma + +[Term] +id: DOID:5592 +name: breast papillary carcinoma +alt_id: DOID:6800 +synonym: "breast solid papillary carcinoma" EXACT [] +synonym: "papillary carcinoma of breast" RELATED [] +synonym: "Papillary carcinoma of the breast" EXACT [NCI2004_11_17:C9134] +synonym: "solid papillary carcinoma of the breast" RELATED [] +xref: NCI:C6870 +xref: UMLS_CUI:C1336027 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:5593 +name: gastric papillary adenocarcinoma +synonym: "Papillary adenocarcinoma of stomach" EXACT [NCI2004_11_17:C5472] +xref: NCI:C5472 +xref: UMLS_CUI:C1333785 +is_a: DOID:3717 ! gastric adenocarcinoma + +[Term] +id: DOID:5594 +name: intraductal papillary adenocarcinoma with invasion +synonym: "Intraductal Papillary adenocarcinoma with Invasion" EXACT [NCI2004_11_17:C7439] +synonym: "Intraductal papillary adenocarcinoma with invasion (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:64524002] +is_obsolete: true + +[Term] +id: DOID:5595 +name: papillary thymic adenocarcinoma +synonym: "Papillary carcinoma of the Thymus" EXACT [NCI2004_11_17:C27937] +xref: NCI:C27937 +xref: UMLS_CUI:C1335327 +is_a: DOID:4923 ! thymus adenocarcinoma + +[Term] +id: DOID:5597 +name: fallopian tube papillary adenocarcinoma +synonym: "Papillary adenocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6267] +xref: NCI:C6267 +xref: UMLS_CUI:C1333595 +is_a: DOID:3706 ! fallopian tube adenocarcinoma + +[Term] +id: DOID:5598 +name: fallopian tube serous adenocarcinoma +xref: NCI:C40099 +xref: UMLS_CUI:C1517124 +is_a: DOID:3706 ! fallopian tube adenocarcinoma + +[Term] +id: DOID:5599 +name: precursor T-lymphoblastic lymphoma/leukemia +synonym: "Precursor T-Lymphoblastic Lymphoma/Leukemia" EXACT [NCI2004_11_17:C8694] +is_a: DOID:5600 ! precursor lymphoblastic lymphoma/leukemia + +[Term] +id: DOID:560 +name: jaw-winking syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "abnormal innervation syndrome of eyelid" EXACT [ICD9CM_2006:374.43] +synonym: "Jaw-blinking" EXACT [MTHICD9_2006:374.43] +synonym: "Jaw-blinking (disorder)" EXACT [SNOMEDCT_2005_07_31:36603006] +synonym: "Jaw-winking syndrome [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:204089009] +synonym: "Marcus-Gunn syndrome" EXACT [MTHICD9_2006:742.8] +synonym: "Pterygoid-levator synkinesis" EXACT [SNOMEDCT_2005_07_31:5127009] +xref: ICD10CM:Q07.8 +xref: ICD9CM:374.43 +xref: MSH:C535908 +xref: OMIM:154600 +xref: SNOMEDCT_US_2015_03_01:193949006 +xref: SNOMEDCT_US_2015_03_01:204089009 +xref: SNOMEDCT_US_2015_03_01:204090000 +xref: SNOMEDCT_US_2015_03_01:36603006 +xref: SNOMEDCT_US_2015_03_01:5127009 +xref: UMLS_CUI:C0266521 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:5600 +name: precursor lymphoblastic lymphoma/leukemia +xref: NCI:C7055 +xref: UMLS_CUI:C1335469 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:5601 +name: T-cell neoplasm +is_obsolete: true + +[Term] +id: DOID:5602 +name: T-cell adult acute lymphocytic leukemia +synonym: "adult Precursor T Lymphoblastic Leukemia" EXACT [NCI2004_11_17:C9142] +xref: NCI:C9142 +xref: UMLS_CUI:C0279592 +is_a: DOID:5604 ! adult acute lymphocytic leukemia + +[Term] +id: DOID:5603 +name: acute T cell leukemia +synonym: "Precursor T Lymphoblastic Leukemia" EXACT [NCI2004_11_17:C3183] +synonym: "T-cell acute lymphoblastic leukemia (disorder)" EXACT [SNOMEDCT_2005_07_31:277575008] +xref: CSP:2004-1600 +xref: CSP:2004-1803 +xref: ICD10CM:C91.5 +xref: ICD10CM:C91.50 +xref: MSH:D015459 +xref: NCI:C3184 +xref: SNOMEDCT_US_2015_03_01:110007008 +xref: SNOMEDCT_US_2015_03_01:188729005 +xref: SNOMEDCT_US_2015_03_01:77430005 +xref: UMLS_CUI:C0023493 +is_a: DOID:715 ! T-cell leukemia + +[Term] +id: DOID:5604 +name: adult acute lymphocytic leukemia +synonym: "adult acute lymphoid Leukemia" EXACT [NCI2004_11_17:C4967] +xref: NCI:C4967 +xref: UMLS_CUI:C0751606 +is_a: DOID:9952 ! acute lymphocytic leukemia + +[Term] +id: DOID:5605 +name: breast medullary carcinoma +synonym: "Medullary breast carcinoma with lymphoid Stroma" EXACT [NCI2004_11_17:C9119] +synonym: "medullary carcinoma of breast" RELATED [] +xref: NCI:C9119 +xref: UMLS_CUI:C0860580 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:5608 +name: dental pulp calcification +synonym: "pulp calcification" EXACT [CSP2005:0834-4423] +synonym: "pulp calcifications" EXACT [MTHICD9_2006:522.2] +synonym: "pulpal calcifications" EXACT [SNOMEDCT_2005_07_31:57602001] +xref: ICD10CM:K04.2 +xref: MSH:D003784 +xref: SNOMEDCT_US_2015_03_01:57602001 +xref: UMLS_CUI:C0011401 +is_a: DOID:5330 ! dental pulp disease + +[Term] +id: DOID:5609 +name: congenital adrenal gland disorder +is_obsolete: true + +[Term] +id: DOID:561 +name: trigeminal nerve disease +xref: ICD9CM:350.8 +xref: UMLS_CUI:C0029834 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:5611 +name: anaplastic intraspinal meningioma +synonym: "malignant Intraspinal meningioma" EXACT [NCI2004_11_17:C8605] +is_obsolete: true + +[Term] +id: DOID:5612 +name: spinal cancer +alt_id: DOID:3638 +alt_id: DOID:7225 +def: "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)." [url:http\://en.wikipedia.org/wiki/Spinal_tumor] +subset: TopNodes_DOcancerslim +synonym: "Intraspinal tumor" EXACT [NCI2004_11_17:C3382] +synonym: "malignant tumor of the Spinal Cord" EXACT [NCI2004_11_17:C3572] +synonym: "spinal cord cancer" EXACT [] +synonym: "spinal cord neoplasm" EXACT [] +synonym: "spinal neoplasm" RELATED [] +synonym: "tumor of the Spinal Cord" EXACT [NCI2004_11_17:C3381] +xref: ICD10CM:C72.0 +xref: ICD9CM:192.2 +xref: MSH:D013120 +xref: MSH:D013125 +xref: NCI:C3381 +xref: NCI:C3382 +xref: NCI:C3572 +xref: SNOMEDCT_US_2015_03_01:126962006 +xref: SNOMEDCT_US_2015_03_01:363475005 +xref: SNOMEDCT_US_2015_03_01:94068003 +xref: UMLS_CUI:C0037930 +xref: UMLS_CUI:C0037939 +xref: UMLS_CUI:C0153646 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:5613 +name: anaplastic meningioma +synonym: "anaplastic (malignant) meningioma" EXACT [NCI2004_11_17:C4051] +synonym: "malignant meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134174002] +synonym: "meningioma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:78303004] +is_obsolete: true + +[Term] +id: DOID:5614 +name: eye disease +alt_id: DOID:2933 +def: "An eye and adnexa disease that is located_in the eye." [url:http\://en.wikipedia.org/wiki/Eye_disease] +synonym: "eye infection" EXACT [CSP2005:1115-1009] +synonym: "eye infection" EXACT [SNOMEDCT_2005_07_31:193270008, SNOMEDCT_2005_07_31:193857008] +synonym: "eye infection (disorder)" EXACT [SNOMEDCT_2005_07_31:128351009] +xref: ICD10CM:H44 +xref: ICD10CM:H44.9 +xref: ICD9CM:360 +xref: ICD9CM:360.9 +xref: ICD9CM:379.90 +xref: MSH:D005128 +xref: NCI:C26767 +xref: SNOMEDCT_US_2015_03_01:111509007 +xref: SNOMEDCT_US_2015_03_01:155101007 +xref: SNOMEDCT_US_2015_03_01:155198005 +xref: SNOMEDCT_US_2015_03_01:193265001 +xref: SNOMEDCT_US_2015_03_01:193266000 +xref: SNOMEDCT_US_2015_03_01:193316008 +xref: SNOMEDCT_US_2015_03_01:194183009 +xref: SNOMEDCT_US_2015_03_01:264555006 +xref: SNOMEDCT_US_2015_03_01:366261005 +xref: SNOMEDCT_US_2015_03_01:371405004 +xref: SNOMEDCT_US_2015_03_01:371409005 +xref: SNOMEDCT_US_2015_03_01:79517001 +xref: UMLS_CUI:C0015397 +is_a: DOID:1492 ! eye and adnexa disease + +[Term] +id: DOID:5615 +name: spinal canal intradural extramedullary neoplasm +synonym: "Intradural Extramedullary Spinal tumors" EXACT [NCI2004_11_17:C5135] +xref: NCI:C5135 +xref: UMLS_CUI:C1334255 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:5616 +name: intraepithelial neoplasm +synonym: "epithelial Dysplasia" EXACT [NCI2004_11_17:C8366] +synonym: "epithelial dysplasia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:61313004] +is_obsolete: true + +[Term] +id: DOID:562 +name: third cranial nerve disease +synonym: "disorder of oculomotor nerve" EXACT [SNOMEDCT_2005_07_31:230531004] +synonym: "Oculomotor nerve disorder" EXACT [NCI2004_11_17:C27598] +synonym: "Third cranial nerve disease (disorder)" EXACT [SNOMEDCT_2005_07_31:60750009] +xref: NCI:C27598 +xref: SNOMEDCT_US_2015_03_01:230531004 +xref: SNOMEDCT_US_2015_03_01:60750009 +xref: UMLS_CUI:C0271353 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:5621 +name: histiocytic and dendritic cell cancer +def: "A sarcoma and hematologic cancer that derives_from follicular lymphoma." [url:http\://www.springerlink.com/content/h9wrn7p72x26q035/] +synonym: "histiocytic and dendritic cell " RELATED [] +xref: NCI:C9294 +xref: UMLS_CUI:C1334030 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:5622 +name: Major puerperal infectious disease +is_obsolete: true + +[Term] +id: DOID:5623 +name: adenosquamous breast carcinoma +xref: NCI:C40361 +xref: UMLS_CUI:C1510796 +is_a: DOID:4680 ! breast metaplastic carcinoma + +[Term] +id: DOID:5624 +name: adenosquamous bile duct carcinoma +def: "A bile duct carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "bile duct Adenosquamous carcinoma" EXACT [NCI2004_11_17:C5778] +xref: NCI:C5778 +xref: UMLS_CUI:C0861854 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:5625 +name: esophageal adenosquamous carcinoma +def: "An esophageal carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +xref: NCI2009_04D:C27421 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:5626 +name: thymus adenosquamous carcinoma +def: "A thymic carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "Adenosquamous carcinoma of the Thymus" EXACT [NCI2004_11_17:C6458] +xref: NCI:C6458 +xref: UMLS_CUI:C1332171 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:5627 +name: adenosquamous gallbladder carcinoma +def: "A gallbladder carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "adenosquamous carcinoma of gallbladder" RELATED [] +synonym: "Adenosquamous carcinoma of the gallbladder" EXACT [NCI2004_11_17:C7356] +xref: NCI:C7356 +xref: UMLS_CUI:C1333741 +is_a: DOID:4948 ! gallbladder carcinoma + +[Term] +id: DOID:5628 +name: ampulla of Vater adenosquamous carcinoma +def: "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +xref: NCI:C27418 +xref: UMLS_CUI:C1332245 +is_a: DOID:4932 ! ampulla of Vater carcinoma + +[Term] +id: DOID:5629 +name: adenosquamous colon carcinoma +def: "A colon carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "adenosquamous carcinoma of colon" RELATED [] +synonym: "Colonic Adenosquamous carcinoma" EXACT [NCI2004_11_17:C5491] +xref: NCI:C5491 +xref: UMLS_CUI:C1333082 +is_a: DOID:1520 ! colon carcinoma + +[Term] +id: DOID:563 +name: primary Fusobacteriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:5630 +name: Bartholin's gland adenosquamous carcinoma +def: "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "Bartholin gland adenosquamous carcinoma" EXACT [] +xref: NCI:C40296 +xref: UMLS_CUI:C1511050 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:5631 +name: endometrial adenosquamous carcinoma +def: "An endometrial carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "Adenosquamous carcinoma of Endometrium" EXACT [NCI2004_11_17:C6290] +is_a: DOID:2871 ! endometrial carcinoma + +[Term] +id: DOID:5632 +name: optic nerve sheath meningioma +synonym: "meningioma of optic nerve sheath (disorder)" EXACT [SNOMEDCT_2005_07_31:254978007] +synonym: "optic nerve Sheath meningioma" EXACT [NCI2004_11_17:C4538] +xref: NCI:C4538 +xref: SNOMEDCT_US_2015_03_01:254978007 +xref: UMLS_CUI:C0346328 +is_a: DOID:3419 ! optic nerve neoplasm + +[Term] +id: DOID:5633 +name: visual pathway meningioma +synonym: "meningioma of the optic tract" EXACT [NCI2004_11_17:C5587] +is_obsolete: true + +[Term] +id: DOID:5634 +name: adenosquamous prostate carcinoma +def: "A prostate carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "adenosquamous carcinoma of prostate" RELATED [] +synonym: "Adenosquamous carcinoma of the prostate" EXACT [NCI2004_11_17:C5538] +xref: NCI:C5538 +xref: UMLS_CUI:C1335503 +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:5635 +name: gastric adenosquamous carcinoma +synonym: "Adenosquamous carcinoma of stomach" EXACT [NCI2004_11_17:C5474] +xref: NCI:C5474 +xref: UMLS_CUI:C1333761 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:5636 +name: cervical adenosquamous carcinoma +def: "A cervical carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "Adenosquamous carcinoma of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:254888007] +synonym: "Adenosquamous cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C4519] +xref: NCI:C4519 +xref: SNOMEDCT_US_2015_03_01:254888007 +xref: UMLS_CUI:C0346202 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:5637 +name: adenosquamous pancreas carcinoma +def: "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] +synonym: "Adenosquamous carcinoma of pancreas" EXACT [NCI2004_11_17:C5721] +synonym: "adenosquamous carcinoma of the pancreas" RELATED [] +xref: NCI:C5721 +xref: UMLS_CUI:C1335299 +is_a: DOID:3498 ! pancreatic ductal adenocarcinoma + +[Term] +id: DOID:5638 +name: malignant giant cell tumor of soft parts +synonym: "malignant Giant cell neoplasm of soft Parts" EXACT [NCI2004_11_17:C8380] +synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:48460009] +xref: NCI:C8380 +xref: SNOMEDCT_US_2015_03_01:48460009 +xref: UMLS_CUI:C0334554 +is_a: DOID:1907 ! malignant fibroxanthoma +is_a: DOID:200 ! giant cell tumor + +[Term] +id: DOID:5639 +name: rete testis neoplasm +xref: NCI:C39955 +xref: UMLS_CUI:C1514912 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:5641 +name: diffuse pulmonary fibrosis +synonym: "Diffuse pulmonary Fibrosis" EXACT [NCI2004_11_17:C27216] +xref: NCI:C27216 +xref: UMLS_CUI:C0865849 +is_a: DOID:3770 ! pulmonary fibrosis + +[Term] +id: DOID:5642 +name: localized pulmonary fibrosis +synonym: "localized pulmonary Fibrosis" EXACT [NCI2004_11_17:C27103] +synonym: "localized pulmonary fibrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:233726000] +xref: NCI:C27103 +xref: SNOMEDCT_US_2015_03_01:233726000 +xref: UMLS_CUI:C0340127 +is_a: DOID:3770 ! pulmonary fibrosis + +[Term] +id: DOID:5643 +name: urethral villous adenoma +xref: NCI:C39872 +xref: UMLS_CUI:C1519828 +is_a: DOID:730 ! urethral benign neoplasm + +[Term] +id: DOID:5644 +name: tricuspid valve prolapse +synonym: "Tricuspid valve prolapse (disorder)" EXACT [SNOMEDCT_2005_07_31:253383003] +xref: MSH:D014263 +xref: SNOMEDCT_US_2015_03_01:253383003 +xref: UMLS_CUI:C0040962 +is_a: DOID:0050826 ! tricuspid valve disease + +[Term] +id: DOID:5648 +name: choroid plexus carcinoma +alt_id: DOID:5647 +def: "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Choroid_plexus_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45963] +subset: DO_cancer_slim +synonym: "cancer of Choroid Plexus" EXACT [NCI2004_11_17:C4715] +synonym: "Choroid plexus carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:88252006] +synonym: "malignant neoplasm of choroid plexus" EXACT [MTHICD9_2006:191.5] +synonym: "malignant neoplasm of the Choroid Plexus" EXACT [NCI2004_11_17:C4533] +synonym: "malignant tumor of choroid plexus" RELATED [] +synonym: "malignant tumor of choroid plexus (disorder)" EXACT [SNOMEDCT_2005_07_31:188292007] +xref: MSH:C562943 +xref: NCI:C4533 +xref: NCI:C4715 +xref: SNOMEDCT_US_2015_03_01:188292007 +xref: SNOMEDCT_US_2015_03_01:88252006 +xref: UMLS_CUI:C0346289 +xref: UMLS_CUI:C0431109 +is_a: DOID:3540 ! choroid plexus cancer + +[Term] +id: DOID:5649 +name: solid carcinoma +synonym: "solid carcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189606002] +synonym: "solid carcinoma with mucin formation" EXACT [SNOMEDCT_2005_07_31:81920005] +is_obsolete: true + +[Term] +id: DOID:565 +name: bilateral hypoactive labyrinth +synonym: "Bilateral hypoactive labyrinth (disorder)" EXACT [SNOMEDCT_2005_07_31:71682006] +synonym: "Hypoactive bilateral labyrinthine dysfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:194375009] +synonym: "Hypoactive labyrinth, bilateral" EXACT [ICD9CM_2006:386.54] +xref: ICD9CM:386.54 +xref: SNOMEDCT_US_2015_03_01:194375009 +xref: SNOMEDCT_US_2015_03_01:71682006 +xref: UMLS_CUI:C0155518 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:5651 +name: anaplastic carcinoma +def: "A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation." [url:http\://en.wikipedia.org/wiki/Anaplastic_carcinoma, url:http\://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma] +synonym: "anaplastic carcinoma" EXACT [NCI2004_11_17:C3690] +synonym: "carcinoma, anaplastic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:58248003] +synonym: "carcinoma, anaplastic type, NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189553008] +is_obsolete: true + +[Term] +id: DOID:5652 +name: metaplastic carcinoma +synonym: "Metaplastic carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128705006] +is_obsolete: true + +[Term] +id: DOID:5655 +name: chiasmal syndrome +synonym: "chiasma syndrome" EXACT [] +synonym: "disorder of optic chiasm" EXACT [ICD9CM_2006:377.5] +xref: ICD10CM:H47.4 +xref: ICD9CM:377.5 +xref: SNOMEDCT_US_2015_03_01:194061008 +xref: SNOMEDCT_US_2015_03_01:70476006 +xref: UMLS_CUI:C0155307 +is_a: DOID:5656 ! cranial nerve disease + +[Term] +id: DOID:5656 +name: cranial nerve disease +def: "A neuropathy that is located_in one of the twelve cranial nerves." [url:http\://en.wikipedia.org/wiki/Cranial_nerve_disease, url:http\://www.ncbi.nlm.nih.gov/mesh/68003389] +synonym: "Cranial nerve disorder" EXACT [NCI2004_11_17:C26733] +synonym: "disorder of cranial nerve" EXACT [SNOMEDCT_2005_07_31:276379008] +xref: ICD10CM:G52.9 +xref: ICD9CM:352.9 +xref: MSH:D003389 +xref: NCI:C26733 +xref: SNOMEDCT_US_2015_03_01:193104009 +xref: SNOMEDCT_US_2015_03_01:267598004 +xref: SNOMEDCT_US_2015_03_01:267709002 +xref: SNOMEDCT_US_2015_03_01:276379008 +xref: SNOMEDCT_US_2015_03_01:73013002 +xref: UMLS_CUI:C0010266 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:5658 +name: lipid-rich carcinoma +synonym: "Lipid-rich carcinoma" EXACT [SNOMEDCT_2005_07_31:189655006] +synonym: "Lipid-rich carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:3839000] +xref: NCI:C4152 +xref: SNOMEDCT_US_2015_03_01:189655006 +xref: SNOMEDCT_US_2015_03_01:3839000 +xref: UMLS_CUI:C0334318 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:5659 +name: invasive carcinoma +def: "A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule." [url:http\://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx] +is_obsolete: true + +[Term] +id: DOID:566 +name: labyrinthine dysfunction +xref: ICD10CM:H83.2 +xref: ICD10CM:H83.2X +xref: ICD10CM:H83.2X9 +xref: ICD9CM:386.5 +xref: ICD9CM:386.50 +xref: SNOMEDCT_US_2015_03_01:194371000 +xref: SNOMEDCT_US_2015_03_01:194378006 +xref: SNOMEDCT_US_2015_03_01:5239005 +xref: UMLS_CUI:C0155514 +is_a: DOID:3426 ! vestibular disease + +[Term] +id: DOID:5660 +name: lymphoepithelioma-like carcinoma +def: "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells." [url:http\://www.najms.org/resources/PDF++375-376+Lymphoepithelioma+like+carcinoma.pdf] +synonym: "lymphoepithelial carcinoma" EXACT [] +synonym: "Lymphoepithelioma-like carcinoma" EXACT [NCI2004_11_17:C27387] +synonym: "Lymphoepithelioma-like carcinoma" EXACT [SNOMEDCT_2005_07_31:7300000] +synonym: "Nasopharyngeal type Undifferentiated carcinoma" EXACT [NCI2004_11_17:C4107] +xref: NCI:C4107 +xref: SNOMEDCT_US_2015_03_01:7300000 +xref: UMLS_CUI:C0334254 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:5662 +name: pleomorphic carcinoma +def: "A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma." [url:http\://ats.ctsnetjournals.org/cgi/content/full/78/5/1742] +synonym: "Pleomorphic carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:16741004] +xref: NCI:C4094 +xref: SNOMEDCT_US_2015_03_01:16741004 +xref: UMLS_CUI:C0334233 +is_a: DOID:305 ! carcinoma + +[Term] +id: DOID:5663 +name: helicobacter pylori-related carcinoma +is_obsolete: true + +[Term] +id: DOID:5665 +name: external ear cancer +synonym: "malignant neoplasm of the External ear" EXACT [NCI2004_11_17:C4653] +synonym: "malignant tumor of external ear (disorder)" EXACT [SNOMEDCT_2005_07_31:277156006] +xref: NCI:C4653 +xref: SNOMEDCT_US_2015_03_01:277156006 +xref: UMLS_CUI:C0349576 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:5667 +name: sweat gland carcinoma +synonym: "carcinoma of the Sweat gland" EXACT [NCI2004_11_17:C6938] +xref: NCI:C6938 +xref: SNOMEDCT_US_2015_03_01:254707006 +xref: SNOMEDCT_US_2015_03_01:254708001 +xref: SNOMEDCT_US_2015_03_01:32272007 +xref: UMLS_CUI:C1412016 +is_a: DOID:2095 ! sweat gland cancer + +[Term] +id: DOID:5670 +name: comedo carcinoma +def: "A carcinoma that is in situ (very early-stage breast cancer)." [url:http\://www.cancer.gov/dictionary/?CdrID=44330] +synonym: "Comedocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36425007] +synonym: "Comedocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189709000] +xref: NCI:C4188 +xref: SNOMEDCT_US_2015_03_01:189709000 +xref: SNOMEDCT_US_2015_03_01:36425007 +xref: UMLS_CUI:C0334370 +is_a: DOID:8791 ! breast carcinoma in situ + +[Term] +id: DOID:5672 +name: large intestine cancer +alt_id: DOID:1994 +alt_id: DOID:1997 +def: "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other." [url:http\://en.wikipedia.org/wiki/Large_intestine] +subset: TopNodes_DOcancerslim +xref: ICD10CM:C18.9 +xref: MSH:D015179 +xref: NCI:C2955 +xref: NCI:C4978 +xref: NCI:C5105 +xref: SNOMEDCT_US_2015_03_01:363510005 +xref: SNOMEDCT_US_2015_03_01:408645001 +xref: SNOMEDCT_US_2015_03_01:93854002 +xref: UMLS_CUI:C0009402 +xref: UMLS_CUI:C0346629 +xref: UMLS_CUI:C1319315 +is_a: DOID:10155 ! intestinal cancer + +[Term] +id: DOID:5675 +name: cribriform carcinoma +synonym: "Cribriform carcinoma" EXACT [NCI2004_11_17:C3680] +synonym: "ductal carcinoma, cribriform type" EXACT [SNOMEDCT_2005_07_31:30156004] +xref: MSH:D000230 +xref: NCI:C3680 +xref: SNOMEDCT_US_2015_03_01:30156004 +xref: UMLS_CUI:C0205643 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:5677 +name: extragonadal nonseminomatous germ cell tumor +def: "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous, url:http\://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1] +synonym: "primary malignant Extragonadal Nonseminoma" EXACT [NCI2004_11_17:C8885] +xref: NCI:C8885 +xref: UMLS_CUI:C1334582 +is_a: DOID:4717 ! extragonadal germ cell cancer + +[Term] +id: DOID:5678 +name: nerve fibre bundle defect +synonym: "nerve fiber bundle defect (disorder)" EXACT [SNOMEDCT_2005_07_31:87194000] +synonym: "Retinal nerve fiber bundle defects" EXACT [ICD9CM_2006:362.85] +synonym: "Retinal nerve fiber bundle deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:193428001] +xref: ICD9CM:362.85 +xref: SNOMEDCT_US_2015_03_01:87194000 +xref: UMLS_CUI:C0474334 +is_a: DOID:1393 ! visual pathway disease +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:5679 +name: retinal disease +def: "An eye disease that is located_in the retina." [url:http\://en.wikipedia.org/wiki/Retina#Diseases_and_disorders] +synonym: "retina disorder" EXACT [CSP2005:1114-9311] +synonym: "Retinal disorder" EXACT [NCI2004_11_17:C26875] +xref: ICD10CM:H35.9 +xref: ICD9CM:362.9 +xref: MSH:D012164 +xref: NCI:C26875 +xref: NCI:C62601 +xref: SNOMEDCT_US_2015_03_01:193430004 +xref: SNOMEDCT_US_2015_03_01:267715002 +xref: SNOMEDCT_US_2015_03_01:29555009 +xref: SNOMEDCT_US_2015_03_01:35426003 +xref: SNOMEDCT_US_2015_03_01:399625000 +xref: UMLS_CUI:C0035309 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:5680 +name: embryonal testis carcinoma +def: "An embryonal carcinoma that is located_in the testis." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] +synonym: "Embryonal carcinoma of testis" EXACT [NCI2004_11_17:C6341] +synonym: "embryonal carcinoma of the testis" RELATED [] +synonym: "testicular embryonal carcinoma" EXACT [] +xref: NCI:C6341 +xref: UMLS_CUI:C0238448 +is_a: DOID:3308 ! embryonal carcinoma + +[Term] +id: DOID:5681 +name: ovarian embryonal carcinoma +def: "An embryonal carcinoma that is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] +synonym: "Embryonal carcinoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254872007] +synonym: "Embryonal carcinoma of the Ovary" EXACT [NCI2004_11_17:C8108] +xref: NCI:C8108 +xref: SNOMEDCT_US_2015_03_01:254872007 +xref: UMLS_CUI:C0346183 +is_a: DOID:3308 ! embryonal carcinoma + +[Term] +id: DOID:5683 +name: hereditary breast ovarian cancer +def: "An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families." [url:http\://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome, url:http\://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1] +comment: Xref MGI. +subset: DO_MGI_slim +xref: MSH:D061325 +xref: NCI:C8493 +xref: OMIM:604370 +xref: OMIM:612555 +xref: OMIM:613399 +xref: OMIM:614291 +xref: ORDO:227535 +xref: UMLS_CUI:C0677776 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:5684 +name: spondyloepimetaphyseal dysplasia, Sponastrime type +def: "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance." [url:http\://omim.org/entry/271510, url:http\://www.ncbi.nlm.nih.gov/pubmed/10797420] +synonym: "sponastrime dysplasia" EXACT [] +synonym: "Spondylar and nasal Alterations-Striated Metaphyses syndrome" EXACT [NCI2004_11_17:C3034] +xref: NCI:C92206 +xref: OMIM:271510 +xref: UMLS_CUI:C0920349 +is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia + +[Term] +id: DOID:5687 +name: flat adenoma syndrome +is_obsolete: true + +[Term] +id: DOID:5688 +name: Werner syndrome +def: "An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is caused by mutations in the WRN gene, located_in chromosome 8." [PMID:15946710, PMID:9288107, url:https\://en.wikipedia.org/wiki/Werner_syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "adult premature ageing syndrome" EXACT [SNOMEDCT_2005_07_31:190590004] +synonym: "adult progeria" EXACT [CSP2005:1849-9804] +synonym: "Werner's syndrome" EXACT [SNOMEDCT_2005_07_31:190592007] +synonym: "WS" EXACT [NCI2004_11_17:C3447] +xref: MSH:D014898 +xref: NCI:C3447 +xref: OMIM:277700 +xref: ORDO:902 +xref: SNOMEDCT_US_2015_03_01:190590004 +xref: SNOMEDCT_US_2015_03_01:190592007 +xref: SNOMEDCT_US_2015_03_01:51626007 +xref: UMLS_CUI:C0043119 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:5690 +name: atypical lipomatous tumor +synonym: "Liposarcoma, well differentiated (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:28655007] +xref: NCI:C4250 +xref: SNOMEDCT_US_2015_03_01:28655007 +xref: UMLS_CUI:C1370889 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5691 +name: visual cortex disease +synonym: "disorder of visual cortex" EXACT [ICD9CM_2006:377.7] +synonym: "disorder of visual cortex (disorder)" EXACT [SNOMEDCT_2005_07_31:128329001] +synonym: "visual cortex disorder NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194071005] +synonym: "visual cortex dysfunction (finding)" EXACT [SNOMEDCT_2005_07_31:86492004] +xref: ICD10CM:H47.6 +xref: ICD9CM:377.7 +xref: NCI:C35275 +xref: SNOMEDCT_US_2015_03_01:128329001 +xref: SNOMEDCT_US_2015_03_01:194071005 +xref: SNOMEDCT_US_2015_03_01:413924001 +xref: SNOMEDCT_US_2015_03_01:86492004 +xref: UMLS_CUI:C0234398 +is_a: DOID:1393 ! visual pathway disease + +[Term] +id: DOID:5692 +name: cellular myxoid liposarcoma +synonym: "Round cell liposarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404070007] +synonym: "Round cell liposarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:43296007] +xref: NCI:C4252 +xref: SNOMEDCT_US_2015_03_01:404070007 +xref: SNOMEDCT_US_2015_03_01:43296007 +xref: UMLS_CUI:C0334471 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5693 +name: adult liposarcoma +xref: NCI:C7811 +xref: UMLS_CUI:C0278608 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5694 +name: esophagus liposarcoma +synonym: "Liposarcoma of esophagus" EXACT [NCI2004_11_17:C5705] +xref: NCI:C5705 +xref: UMLS_CUI:C1333456 +is_a: DOID:1114 ! esophagus sarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5695 +name: pediatric liposarcoma +xref: NCI:C8091 +xref: UMLS_CUI:C0279984 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5696 +name: larynx liposarcoma +def: "A liposarcoma and sarcoma of the larynx that is located_in the larynx." [url:http\://www.springerlink.com/content/k571r5t8637pg5p5/] +synonym: "Liposarcoma of Larynx" EXACT [NCI2004_11_17:C6021] +xref: NCI:C6021 +xref: UMLS_CUI:C1334372 +is_a: DOID:2877 ! larynx sarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5697 +name: liposarcoma of the ovary +synonym: "Liposarcoma of Ovary" EXACT [NCI2004_11_17:C6419] +xref: NCI:C6419 +xref: UMLS_CUI:C1335165 +is_a: DOID:2146 ! ovary sarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5698 +name: fibroblastic liposarcoma +synonym: "Fibroblastic Liposarcoma" EXACT [NCI2004_11_17:C6509] +synonym: "Fibroblastic liposarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128883006] +xref: NCI:C6509 +xref: SNOMEDCT_US_2015_03_01:128883006 +xref: UMLS_CUI:C1266130 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5699 +name: kidney liposarcoma +def: "A liposarcoma and sarcoma of kidney that is located_in the kidney." [url:http\://emedicine.medscape.com/article/391272-overview] +synonym: "Liposarcoma of kidney" EXACT [NCI2004_11_17:C6185] +xref: NCI:C6185 +xref: UMLS_CUI:C1335745 +is_a: DOID:3382 ! liposarcoma +is_a: DOID:4242 ! kidney sarcoma + +[Term] +id: DOID:57 +name: aortic valve insufficiency +alt_id: DOID:54 +alt_id: DOID:55 +def: "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." [url:http\://en.wikipedia.org/wiki/Aortic_insufficiency] +synonym: "aortic incompetence" EXACT [] +synonym: "aortic insufficiency " EXACT [] +synonym: "aortic regurgitation" EXACT [CSP2005:1393-3890] +synonym: "Corrigan's disease" RELATED [] +synonym: "Rheumatic aortic insufficiency" EXACT [ICD9CM_2006:395.1] +synonym: "Rheumatic aortic regurgitation" EXACT [SNOMEDCT_2005_07_31:155283004] +synonym: "rheumatic aortic valve insufficiency" EXACT [] +synonym: "Rheumatic aortic valve regurgitation" EXACT [MTHICD9_2006:395.1] +xref: ICD10CM:I06.1 +xref: ICD9CM:395.1 +xref: ICD9CM:396.3 +xref: MSH:D001022 +xref: NCI:C50861 +xref: NCI:C51223 +xref: SNOMEDCT_US_2015_03_01:155283004 +xref: SNOMEDCT_US_2015_03_01:194736003 +xref: SNOMEDCT_US_2015_03_01:60234000 +xref: SNOMEDCT_US_2015_03_01:78031003 +xref: UMLS_CUI:C0003504 +xref: UMLS_CUI:C0155568 +xref: UMLS_CUI:C0264774 +is_a: DOID:62 ! aortic valve disease + +[Term] +id: DOID:5700 +name: gastric liposarcoma +synonym: "Liposarcoma of the stomach" EXACT [NCI2004_11_17:C5488] +xref: NCI:C5488 +xref: UMLS_CUI:C1333778 +is_a: DOID:10534 ! stomach cancer + +[Term] +id: DOID:5701 +name: breast liposarcoma +synonym: "Liposarcoma of the breast" EXACT [NCI2004_11_17:C5187] +xref: NCI:C5187 +xref: UMLS_CUI:C1332632 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:5702 +name: pleomorphic liposarcoma +synonym: "Pleomorphic Liposarcoma" EXACT [NCI2004_11_17:C3705] +synonym: "Pleomorphic liposarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404071006] +synonym: "Pleomorphic liposarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:112683004] +xref: MSH:D008080 +xref: NCI:C3705 +xref: SNOMEDCT_US_2015_03_01:112683004 +xref: SNOMEDCT_US_2015_03_01:404071006 +xref: UMLS_CUI:C0205825 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5703 +name: mixed liposarcoma +synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:11073003] +xref: NCI:C4253 +xref: SNOMEDCT_US_2015_03_01:11073003 +xref: UMLS_CUI:C0334472 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5704 +name: Sclerosing liposarcoma +synonym: "Sclerosing Liposarcoma" EXACT [NCI2004_11_17:C6507] +synonym: "Sclerosing liposarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404068003] +xref: NCI:C6507 +xref: SNOMEDCT_US_2015_03_01:28655007 +xref: SNOMEDCT_US_2015_03_01:404068003 +xref: UMLS_CUI:C0334469 +is_a: DOID:5690 ! atypical lipomatous tumor + +[Term] +id: DOID:5705 +name: spindle cell Liposarcoma +synonym: "spindle cell liposarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404073009] +xref: NCI:C27489 +xref: SNOMEDCT_US_2015_03_01:404073009 +xref: UMLS_CUI:C1275275 +is_a: DOID:5690 ! atypical lipomatous tumor + +[Term] +id: DOID:5707 +name: liposarcoma nonmetastatic +synonym: "Non-metastatic Liposarcoma" EXACT [NCI2004_11_17:C8817] +is_obsolete: true + +[Term] +id: DOID:5708 +name: liposarcoma metastatic +is_obsolete: true + +[Term] +id: DOID:5709 +name: mixed-type liposarcoma +xref: NCI:C27781 +xref: UMLS_CUI:C0545074 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:571 +name: median neuropathy +xref: ICD10CM:G56.1 +xref: ICD10CM:G56.10 +xref: ICD9CM:354.1 +xref: SNOMEDCT_US_2015_03_01:193127001 +xref: SNOMEDCT_US_2015_03_01:194512000 +xref: UMLS_CUI:C0154742 +is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex + +[Term] +id: DOID:5710 +name: liposarcoma recurrent +synonym: "relapsed Liposarcoma" EXACT [NCI2004_11_17:C8818] +is_obsolete: true + +[Term] +id: DOID:5711 +name: vulvar liposarcoma +xref: NCI2009_04D:C40321 +is_a: DOID:2096 ! vulvar sarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5712 +name: cutaneous liposarcoma +synonym: "Liposarcoma of the skin" EXACT [NCI2004_11_17:C5615] +xref: NCI:C5615 +xref: UMLS_CUI:C1333175 +is_a: DOID:2687 ! skin sarcoma +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5713 +name: mediastinum liposarcoma +def: "A liposarcoma and mediastinum sarcoma that is located_in the mediastinum." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/] +synonym: "Liposarcoma of mediastinum" EXACT [NCI2004_11_17:C6614] +xref: NCI:C6614 +xref: UMLS_CUI:C1334663 +is_a: DOID:3382 ! liposarcoma +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:5714 +name: intracranial liposarcoma +xref: NCI:C6973 +xref: UMLS_CUI:C1334242 +is_a: DOID:3382 ! liposarcoma + +[Term] +id: DOID:5715 +name: functionless pituitary adenoma +synonym: "Non-Functioning neoplasm of the Pituitary" EXACT [NCI2004_11_17:C4009] +synonym: "Non-Secretory adenoma of the Pituitary gland" EXACT [NCI2004_11_17:C4348] +xref: NCI:C4009 +xref: NCI:C4348 +xref: SNOMEDCT_US_2015_03_01:254962005 +xref: UMLS_CUI:C0338078 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:5716 +name: hormone producing pituitary cancer +alt_id: DOID:6254 +synonym: "growth hormone producing pituitary tumor" EXACT [] +synonym: "Pituitary tumors, Hormone Producing" EXACT [NCI2004_11_17:C7047] +synonym: "Somatotropinoma" EXACT [NCI2004_11_17:C7911] +xref: NCI:C7047 +xref: NCI:C7911 +xref: UMLS_CUI:C0278864 +xref: UMLS_CUI:C0851693 +is_a: DOID:1785 ! pituitary cancer + +[Term] +id: DOID:5717 +name: recurrent pituitary tumor +synonym: "relapsed tumor of Pituitary" EXACT [NCI2004_11_17:C7912] +is_obsolete: true + +[Term] +id: DOID:5718 +name: adrenal neuroblastoma +def: "An adrenal gland cancer that derives_from immature neuroblastic cells." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma, url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] +subset: DO_cancer_slim +synonym: "neuroblastoma of Adrenal gland" EXACT [NCI2004_11_17:C4827] +xref: NCI:C4827 +xref: SNOMEDCT_US_2015_03_01:281562007 +xref: UMLS_CUI:C0559460 +is_a: DOID:3953 ! adrenal gland cancer + +[Term] +id: DOID:5719 +name: adrenal medulla cancer +alt_id: DOID:662 +def: "An adrenal gland cancer that is located_in the adrenal medulla." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla] +synonym: "adrenal medulla neoplasm" EXACT [CSP2005:2009-6219] +synonym: "adrenal medulla tumor" EXACT [] +synonym: "malignant neoplasm of adrenal medulla" EXACT [MTHICD9_2006:194.0] +synonym: "malignant tumor of the Adrenal Medulla" EXACT [NCI2004_11_17:C4396] +xref: ICD10CM:C74.1 +xref: NCI:C4396 +xref: NCI:C4856 +xref: SNOMEDCT_US_2015_03_01:127023007 +xref: SNOMEDCT_US_2015_03_01:363480001 +xref: SNOMEDCT_US_2015_03_01:371965009 +xref: SNOMEDCT_US_2015_03_01:93666006 +xref: UMLS_CUI:C0344456 +xref: UMLS_CUI:C0596046 +is_a: DOID:3953 ! adrenal gland cancer + +[Term] +id: DOID:572 +name: mononeuritis of upper limb and mononeuritis multiplex +xref: ICD9CM:354 +xref: SNOMEDCT_US_2015_03_01:155072002 +xref: SNOMEDCT_US_2015_03_01:193125009 +xref: UMLS_CUI:C0154741 +is_a: DOID:1188 ! mononeuropathy + +[Term] +id: DOID:5720 +name: neuroblastomas of the adrenal gland and sympathetic nervous system +synonym: "Neuroblastomas of Adrenal gland and Sympathetic nervous system" EXACT [NCI2004_11_17:C6964] +is_obsolete: true + +[Term] +id: DOID:5723 +name: optic atrophy +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "atrophy of optic disc" EXACT [] +xref: ICD10CM:H47.2 +xref: ICD10CM:H47.20 +xref: ICD9CM:377.1 +xref: ICD9CM:377.10 +xref: MSH:D009896 +xref: NCI:C34863 +xref: OMIM:165300 +xref: OMIM:165500 +xref: OMIM:258500 +xref: OMIM:311050 +xref: OMIM:605293 +xref: OMIM:610708 +xref: ORDO:98673 +xref: SNOMEDCT_US_2015_03_01:155188004 +xref: SNOMEDCT_US_2015_03_01:194042009 +xref: SNOMEDCT_US_2015_03_01:194046007 +xref: SNOMEDCT_US_2015_03_01:267742001 +xref: SNOMEDCT_US_2015_03_01:76976005 +xref: UMLS_CUI:C0029124 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:5724 +name: seminal vesicle cystadenoma +xref: NCI:C39907 +xref: UMLS_CUI:C1519234 +is_a: DOID:3855 ! seminal vesicle tumor + +[Term] +id: DOID:5725 +name: rete ovarii cystadenoma +xref: NCI:C40019 +xref: UMLS_CUI:C1514907 +is_a: DOID:6837 ! rete ovarii adenoma + +[Term] +id: DOID:5726 +name: uterine ligament papillary cystadenoma +xref: NCI:C40142 +xref: UMLS_CUI:C3642324 +is_a: DOID:5727 ! uterine ligament cancer + +[Term] +id: DOID:5727 +name: uterine ligament cancer +synonym: "tumor of the uterine Ligament" EXACT [NCI2004_11_17:C40133] +xref: NCI:C40133 +xref: UMLS_CUI:C1519870 +is_a: DOID:363 ! uterine cancer + +[Term] +id: DOID:5728 +name: diffuse peritoneal leiomyomatosis +synonym: "leiomyomatosis peritonealis disseminata (disorder)" EXACT [SNOMEDCT_2005_07_31:62557001] +xref: NCI:C3958 +xref: SNOMEDCT_US_2015_03_01:62557001 +xref: SNOMEDCT_US_2015_03_01:703634007 +xref: UMLS_CUI:C0267785 +is_a: DOID:5138 ! leiomyomatosis + +[Term] +id: DOID:5729 +name: intravenous leiomyomatosis +synonym: "Intravenous leiomyomatosis" EXACT [NCI2004_11_17:C4518] +synonym: "Intravenous leiomyomatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:254883003] +xref: NCI:C4518 +xref: NCI:C5356 +xref: SNOMEDCT_US_2015_03_01:254883003 +xref: UMLS_CUI:C0346200 +is_a: DOID:5138 ! leiomyomatosis + +[Term] +id: DOID:573 +name: nerve compression syndrome +alt_id: DOID:7318 +synonym: "Compression neuropathy" EXACT [SNOMEDCT_2005_07_31:155085004] +synonym: "Entrapment Neuropathy" EXACT [NCI2004_11_17:C27221] +synonym: "entrapment neuropathy" EXACT [] +synonym: "peripheral nerve entrapment syndrome" EXACT [SNOMEDCT_2005_07_31:45781009] +xref: MSH:D009408 +xref: NCI:C27221 +xref: SNOMEDCT_US_2015_03_01:155085004 +xref: SNOMEDCT_US_2015_03_01:45781009 +xref: UMLS_CUI:C0027743 +xref: UMLS_CUI:C1510429 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:5730 +name: salpingitis isthmica nodosa +synonym: "Salpingitis Isthmica Nodosa" EXACT [NCI2004_11_17:C40119] +synonym: "Salpingitis isthmica nodosa (disorder)" EXACT [SNOMEDCT_2005_07_31:36742000] +xref: NCI:C40119 +xref: SNOMEDCT_US_2015_03_01:36742000 +xref: UMLS_CUI:C0269043 +is_a: DOID:5731 ! chronic salpingitis + +[Term] +id: DOID:5731 +name: chronic salpingitis +synonym: "chronic salpingitis (disorder)" EXACT [SNOMEDCT_2005_07_31:55551005] +xref: ICD10CM:N70.11 +xref: NCI:C40118 +xref: SNOMEDCT_US_2015_03_01:55551005 +xref: UMLS_CUI:C0269041 +is_a: DOID:5733 ! salpingitis + +[Term] +id: DOID:5732 +name: pyosalpinx +synonym: "Pyosalpingitis" EXACT [SNOMEDCT_2005_07_31:9400007] +synonym: "Pyosalpingitis" EXACT [SNOMEDCT_2005_07_31:35263009] +synonym: "Pyosalpinx (disorder)" EXACT [SNOMEDCT_2005_07_31:397810006] +xref: ICD10CM:N70 +xref: NCI:C34968 +xref: SNOMEDCT_US_2015_03_01:155974004 +xref: SNOMEDCT_US_2015_03_01:266651008 +xref: SNOMEDCT_US_2015_03_01:35263009 +xref: SNOMEDCT_US_2015_03_01:397810006 +xref: SNOMEDCT_US_2015_03_01:9400007 +xref: UMLS_CUI:C0034220 +is_a: DOID:5733 ! salpingitis + +[Term] +id: DOID:5733 +name: salpingitis +xref: ICD10CM:N70.91 +xref: MSH:D012488 +xref: NCI:C26880 +xref: SNOMEDCT_US_2015_03_01:155968004 +xref: SNOMEDCT_US_2015_03_01:198151009 +xref: SNOMEDCT_US_2015_03_01:266648001 +xref: SNOMEDCT_US_2015_03_01:88157006 +xref: UMLS_CUI:C0036130 +is_a: DOID:1962 ! fallopian tube disease + +[Term] +id: DOID:5738 +name: secondary myelofibrosis +is_obsolete: true + +[Term] +id: DOID:574 +name: peripheral nervous system disease +alt_id: DOID:13069 +def: "A nervous system disease that affects the peripheral nervous system." [url:http\://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no] +synonym: "peripheral nerve disease" RELATED [MTH:516] +synonym: "peripheral neuropathy" RELATED [CSP2005:2042-6617] +xref: ICD10CM:G64 +xref: ICD9CM:350-359.99 +xref: MSH:D010523 +xref: NCI:C27580 +xref: NCI:C27587 +xref: SNOMEDCT_US_2015_03_01:155064004 +xref: SNOMEDCT_US_2015_03_01:155080009 +xref: SNOMEDCT_US_2015_03_01:155100008 +xref: SNOMEDCT_US_2015_03_01:193088006 +xref: SNOMEDCT_US_2015_03_01:193264002 +xref: SNOMEDCT_US_2015_03_01:264554005 +xref: SNOMEDCT_US_2015_03_01:267706009 +xref: SNOMEDCT_US_2015_03_01:302226006 +xref: SNOMEDCT_US_2015_03_01:42658009 +xref: UMLS_CUI:C0031117 +xref: UMLS_CUI:C1335029 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:5740 +name: small intestinal vasoactive intestinal peptide producing tumor +synonym: "small intestinal VIP Producing tumor" EXACT [NCI2004_11_17:C27455] +xref: NCI:C27455 +xref: UMLS_CUI:C1336009 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:5741 +name: pancreatic vasoactive intestinal peptide producing tumor +synonym: "pancreatic VIP Producing tumor" EXACT [NCI2004_11_17:C27454] +xref: NCI:C27454 +xref: NCI:C95599 +xref: UMLS_CUI:C2033037 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:5742 +name: pancreatic acinar cell adenocarcinoma +def: "A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase." [url:http\://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas, url:http\://www.pathologyoutlines.com/topic/pancreasacinar.html] +subset: DO_cancer_slim +synonym: "pancreatic acinar cell carcinoma" EXACT [NCI2004_11_17:C7977] +xref: NCI:C7977 +xref: UMLS_CUI:C0279661 +is_a: DOID:4074 ! pancreas adenocarcinoma + +[Term] +id: DOID:5743 +name: acinic cell breast carcinoma +xref: NCI:C40367 +xref: UMLS_CUI:C1515868 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:5744 +name: ovary serous adenocarcinoma +alt_id: DOID:5745 +def: "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Serous_carcinoma] +synonym: "malignant ovarian serous tumor" EXACT [] +synonym: "serous carcinoma of Ovary" EXACT [NCI2004_11_17:C7550] +xref: NCI:C40025 +xref: NCI:C7550 +xref: UMLS_CUI:C1335177 +xref: UMLS_CUI:C1518234 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:5746 +name: ovarian serous cystadenocarcinoma +def: "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed." [url:http\://cancergenome.nih.gov/cancersselected/ovarian, url:http\://en.wikipedia.org/wiki/Serous_cystadenocarcinoma] +subset: DO_cancer_slim +synonym: "serous cystadenoma" EXACT [] +xref: NCI:C7978 +xref: UMLS_CUI:C0279663 +is_a: DOID:3605 ! ovarian cystadenocarcinoma +is_a: DOID:5744 ! ovary serous adenocarcinoma + +[Term] +id: DOID:5747 +name: uterine ligament serous adenocarcinoma +xref: NCI:C40136 +xref: UMLS_CUI:C1519872 +is_a: DOID:3700 ! uterine ligament adenocarcinoma + +[Term] +id: DOID:5748 +name: rheumatic pulmonary valve disease +synonym: "Rheumatic disease of pulmonary valve" EXACT [ICD9CM_2006:397.1] +synonym: "Rheumatic disease of pulmonary valve (disorder)" EXACT [SNOMEDCT_2005_07_31:18687009] +synonym: "Rheumatic pulmonary incompetence" EXACT [SNOMEDCT_2005_07_31:266283005] +synonym: "Rheumatic pulmonary valve disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194747005] +xref: ICD10CM:I09.89 +xref: ICD9CM:397.1 +xref: SNOMEDCT_US_2015_03_01:18687009 +xref: SNOMEDCT_US_2015_03_01:194747005 +xref: SNOMEDCT_US_2015_03_01:266283005 +xref: UMLS_CUI:C0155579 +is_a: DOID:5749 ! pulmonary valve disease + +[Term] +id: DOID:5749 +name: pulmonary valve disease +synonym: "pulmonary valve disorder" EXACT [ICD9CM_2006:424.3] +xref: ICD9CM:424.3 +xref: NCI:C78579 +xref: SNOMEDCT_US_2015_03_01:195001000 +xref: SNOMEDCT_US_2015_03_01:76267008 +xref: UMLS_CUI:C0034087 +is_a: DOID:4079 ! heart valve disease + +[Term] +id: DOID:5750 +name: uterine corpus serous adenocarcinoma +def: "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia." [url:http\://en.wikipedia.org/wiki/Uterine_serous_carcinoma] +subset: DO_cancer_slim +synonym: "uterine papillary serous carcinoma" EXACT [] +synonym: "uterine serous carcinoma " EXACT [] +xref: NCI:C27838 +xref: UMLS_CUI:C1336921 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:5751 +name: pancreatic serous cystadenocarcinoma +synonym: "serous cystadenocarcinoma of pancreas" EXACT [NCI2004_11_17:C5724] +xref: NCI:C5724 +xref: UMLS_CUI:C1335315 +is_a: DOID:4073 ! pancreatic cystadenocarcinoma + +[Term] +id: DOID:5752 +name: cervical serous adenocarcinoma +xref: NCI:C40201 +xref: UMLS_CUI:C1516431 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:5757 +name: endocervicitis +synonym: "Endocervicitis (disorder)" EXACT [SNOMEDCT_2005_07_31:31354001] +synonym: "Endocervicitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198201006] +xref: NCI:C26762 +xref: SNOMEDCT_US_2015_03_01:155980007 +xref: SNOMEDCT_US_2015_03_01:198201006 +xref: SNOMEDCT_US_2015_03_01:266654000 +xref: SNOMEDCT_US_2015_03_01:31354001 +xref: UMLS_CUI:C0014127 +is_a: DOID:2568 ! cervicitis + +[Term] +id: DOID:5758 +name: malignant mesenchymoma +synonym: "Mesenchymoma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:89623007] +xref: MSH:C535700 +xref: NCI:C4268 +xref: SNOMEDCT_US_2015_03_01:89623007 +xref: UMLS_CUI:C0334492 +is_a: DOID:2668 ! mesenchymoma + +[Term] +id: DOID:5759 +name: sebaceous gland neoplasm +synonym: "Sebaceous neoplasm" EXACT [NCI2004_11_17:C3363] +xref: MSH:D012626 +xref: NCI:C3363 +xref: SNOMEDCT_US_2015_03_01:126491004 +xref: UMLS_CUI:C0036503 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:576 +name: proteinuria +xref: ICD10CM:R80 +xref: ICD10CM:R80.9 +xref: ICD9CM:791.0 +xref: MSH:D011507 +xref: NCI:C38012 +xref: SNOMEDCT_US_2015_03_01:144515004 +xref: SNOMEDCT_US_2015_03_01:158565005 +xref: SNOMEDCT_US_2015_03_01:158568007 +xref: SNOMEDCT_US_2015_03_01:167279003 +xref: SNOMEDCT_US_2015_03_01:207310001 +xref: SNOMEDCT_US_2015_03_01:207315006 +xref: SNOMEDCT_US_2015_03_01:232691000 +xref: SNOMEDCT_US_2015_03_01:236719005 +xref: SNOMEDCT_US_2015_03_01:29738008 +xref: UMLS_CUI:C0033687 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:5760 +name: sebaceous breast carcinoma +xref: NCI:C40369 +xref: UMLS_CUI:C1519207 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:5761 +name: vulvar sebaceous carcinoma +xref: NCI:C40309 +xref: UMLS_CUI:C1520094 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:5763 +name: lung clear cell-sugar-tumor +xref: NCI:C38152 +xref: UMLS_CUI:C1333065 +is_a: DOID:3683 ! lung benign neoplasm + +[Term] +id: DOID:5764 +name: lung meningioma +alt_id: DOID:6205 +synonym: "lung primary meningioma" EXACT [] +synonym: "primary pulmonary meningioma" EXACT [NCI2004_11_17:C5276] +synonym: "pulmonary meningioma" EXACT [NCI2004_11_17:C5668] +xref: NCI:C5276 +xref: NCI:C5668 +xref: UMLS_CUI:C1334450 +xref: UMLS_CUI:C1335488 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:5765 +name: primary ectopic meningioma +is_obsolete: true + +[Term] +id: DOID:5766 +name: pulmonary sclerosing hemangioma +synonym: "Pneumocytoma" EXACT [NCI2004_11_17:C5656] +xref: MSH:D047868 +xref: NCI:C5656 +xref: SNOMEDCT_US_2015_03_01:707365008 +xref: UMLS_CUI:C1334455 +is_a: DOID:490 ! hemangioma of lung +is_a: DOID:495 ! sclerosing hemangioma + +[Term] +id: DOID:5767 +name: hilar lung neoplasm +synonym: "lung Hilum tumor" EXACT [NCI2004_11_17:C5671] +synonym: "neoplasm of hilus of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:126707007] +xref: NCI:C5671 +xref: SNOMEDCT_US_2015_03_01:126707007 +xref: UMLS_CUI:C1290358 +is_a: DOID:3683 ! lung benign neoplasm + +[Term] +id: DOID:5768 +name: Nager acrofacial dysostosis +def: "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children." [url:http\://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/nager-syndrome, url:http\://www.faces-cranio.org/Disord/Nager.htm, url:http\://www.nagerormillersynd.com/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acrofacial dysostosis 1, Nager type" EXACT [] +synonym: "AFD" EXACT [] +synonym: "Nager syndrome" EXACT [] +synonym: "preaxial acrofacial dysostosis" EXACT [] +synonym: "preaxial manibulofacial dysostosis" EXACT [] +xref: NCI:C35795 +xref: OMIM:154400 +xref: UMLS_CUI:C1332140 +is_a: DOID:0060379 ! acrofacial dysostosis + +[Term] +id: DOID:5769 +name: verruciform xanthoma of skin +synonym: "Cutaneous Verruciform Xanthoma" EXACT [NCI2004_11_17:C4478] +synonym: "Verruciform xanthoma (disorder)" EXACT [SNOMEDCT_2005_07_31:402477000] +synonym: "Verruciform xanthoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:66174008] +synonym: "Verruciform xanthoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254756007] +xref: NCI:C4478 +xref: SNOMEDCT_US_2015_03_01:254756007 +xref: SNOMEDCT_US_2015_03_01:402477000 +xref: SNOMEDCT_US_2015_03_01:66174008 +xref: UMLS_CUI:C0346054 +is_a: DOID:3345 ! xanthomatosis + +[Term] +id: DOID:5770 +name: Mycobacterium avium-intracellulare lymphadenitis +subset: gram-positive_bacterial_infectious_disease +synonym: "MAI lymphadenitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5771 +name: Mycobacterium avium complex lymphadenitis +subset: gram-positive_bacterial_infectious_disease +synonym: "MAC lymphadenitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5772 +name: central nervous system hematologic cancer +def: "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system." [url:http\://www.oncologystat.com/journals/ew/YSONC/Central_Nervous_System_Disease_in_Hematologic_Malignancies_Historical_Perspective_and_Practical_Applications.html] +synonym: "CNS hematopoietic tumor" EXACT [NCI2004_11_17:C5503] +synonym: "hematopoietic neoplasm of central nervous system" RELATED [] +xref: NCI:C5503 +xref: UMLS_CUI:C1332882 +is_a: DOID:3620 ! central nervous system cancer + +[Term] +id: DOID:5773 +name: oral submucous fibrosis +alt_id: DOID:9679 +synonym: "Oral cavity Submucous Fibrosis" EXACT [] +synonym: "Oral submucosal fibrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:32883009] +synonym: "Oral submucosal fibrosis, including of tongue" EXACT [ICD9CM_2006:528.8] +xref: ICD10CM:K13.5 +xref: ICD9CM:528.8 +xref: MSH:D009914 +xref: NCI:C34866 +xref: SNOMEDCT_US_2015_03_01:32883009 +xref: UMLS_CUI:C0029171 +xref: UMLS_CUI:C0029172 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:5774 +name: giant hemangioma +xref: NCI:C27777 +xref: UMLS_CUI:C1333817 +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:5775 +name: cavernous hemangioma of colon +synonym: "Colonic Cavernous hemangioma" EXACT [NCI2004_11_17:C5395] +xref: NCI:C5395 +xref: UMLS_CUI:C1333086 +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:5776 +name: cavernous hemangioma of face +xref: NCI:C7053 +xref: UMLS_CUI:C1332863 +is_a: DOID:483 ! cavernous hemangioma + +[Term] +id: DOID:5777 +name: rectum neuroendocrine neoplasm +synonym: "neuroendocrine tumor of rectum" EXACT [NCI2004_11_17:C5698] +xref: NCI:C5698 +xref: UMLS_CUI:C1335686 +is_a: DOID:1984 ! rectal neoplasm + +[Term] +id: DOID:578 +name: urination disorder +synonym: "urination disorder" EXACT [CSP2005:3047-0432] +is_obsolete: true + +[Term] +id: DOID:5781 +name: atrophic flaccid tympanic membrane +synonym: "atrophic flaccid tympanic membrane (disorder)" EXACT [SNOMEDCT_2005_07_31:38645004] +synonym: "atrophic flaccid tympanic membrane NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194322005] +xref: ICD10CM:H73.81 +xref: ICD9CM:384.81 +xref: SNOMEDCT_US_2015_03_01:194322005 +xref: SNOMEDCT_US_2015_03_01:38645004 +xref: UMLS_CUI:C0155470 +is_a: DOID:5782 ! tympanic membrane disease + +[Term] +id: DOID:5782 +name: tympanic membrane disease +xref: ICD10CM:H73.9 +xref: ICD10CM:H73.90 +xref: ICD9CM:384.9 +xref: SNOMEDCT_US_2015_03_01:194326008 +xref: SNOMEDCT_US_2015_03_01:21426000 +xref: UMLS_CUI:C0041825 +is_a: DOID:5100 ! middle ear disease + +[Term] +id: DOID:5784 +name: esophageal neuroendocrine tumor +synonym: "neuroendocrine tumor of esophagus" EXACT [NCI2004_11_17:C5821] +xref: NCI:C5821 +xref: UMLS_CUI:C1333462 +is_a: DOID:5041 ! esophageal cancer + +[Term] +id: DOID:5785 +name: recurrent hepatoblastoma +synonym: "relapsed Hepatoblastoma" EXACT [NCI2004_11_17:C8643] +is_obsolete: true + +[Term] +id: DOID:5786 +name: recurrent childhood cancer of liver +synonym: "relapsed pediatric cancer of the Liver" EXACT [NCI2004_11_17:C7839] +is_obsolete: true + +[Term] +id: DOID:5789 +name: mixed hepatoblastoma +synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [] +xref: NCI:C7097 +xref: UMLS_CUI:C1334784 +is_a: DOID:687 ! hepatoblastoma + +[Term] +id: DOID:5790 +name: resectable hepatoblastoma +is_obsolete: true + +[Term] +id: DOID:5792 +name: hepatoblastoma with pure fetal epithelial differentiation +is_obsolete: true + +[Term] +id: DOID:5796 +name: nonresectable hepatoblastoma +synonym: "Non-Resectable Hepatoblastoma" EXACT [NCI2004_11_17:C8641] +is_obsolete: true + +[Term] +id: DOID:5797 +name: mixed hepatoblastoma with teratoid features +is_obsolete: true + +[Term] +id: DOID:5798 +name: macrotrabecular hepatoblastoma +xref: NCI:C7095 +xref: UMLS_CUI:C1334543 +is_a: DOID:687 ! hepatoblastoma + +[Term] +id: DOID:580 +name: acute urate nephropathy +synonym: "Uric acid nephrolithiasis" EXACT [ICD9CM_2006:274.11] +synonym: "Uric acid nephrolithiasis" EXACT [SNOMEDCT_2005_07_31:190831009] +synonym: "Uric acid nephropathy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:16410004] +synonym: "Uric acid urolithiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:267441009] +xref: ICD9CM:274.11 +xref: SNOMEDCT_US_2015_03_01:16410004 +xref: SNOMEDCT_US_2015_03_01:190831009 +xref: SNOMEDCT_US_2015_03_01:197793002 +xref: SNOMEDCT_US_2015_03_01:267441009 +xref: UMLS_CUI:C0403719 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:5802 +name: hepatoblastoma with combined fetal epithelial differentiation +is_obsolete: true + +[Term] +id: DOID:5804 +name: discrete subaortic stenosis +xref: MSH:D021922 +xref: UMLS_CUI:C0012628 +is_a: DOID:5805 ! subvalvular aortic stenosis + +[Term] +id: DOID:5805 +name: subvalvular aortic stenosis +xref: MSH:D001020 +xref: NCI:C85172 +xref: UMLS_CUI:C0003500 +is_a: DOID:1712 ! aortic valve stenosis + +[Term] +id: DOID:5806 +name: stork bite +synonym: "Salmon patch nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:254211001] +synonym: "Unna's nevus" EXACT [NCI2004_11_17:C4399] +is_a: DOID:2725 ! capillary hemangioma + +[Term] +id: DOID:5809 +name: childhood parosteal osteogenic sarcoma +xref: NCI:C6589 +xref: UMLS_CUI:C1332994 +is_a: DOID:3373 ! juxtacortical osteosarcoma + +[Term] +id: DOID:581 +name: gouty nephropathy +is_obsolete: true + +[Term] +id: DOID:5810 +name: adenosine deaminase deficiency +def: "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency] +synonym: "ADA " EXACT [] +xref: CSP:1560-6660 +xref: ICD10CM:D81.3 +xref: NCI:C3962 +xref: OMIM:102700 +xref: SNOMEDCT_US_2015_03_01:124523006 +xref: SNOMEDCT_US_2015_03_01:190738006 +xref: SNOMEDCT_US_2015_03_01:190999009 +xref: SNOMEDCT_US_2015_03_01:44940001 +xref: UMLS_CUI:C0268124 +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:5812 +name: MHC class II deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "bare lymphocyte syndrome type II" EXACT [CSP2005:1560-6660] +synonym: "BLSII" EXACT [] +synonym: "SCID due to absent class II HLA antigens (disorder)" EXACT [SNOMEDCT_2005_07_31:71904008] +xref: ICD10CM:D81.6 +xref: MSH:D016511 +xref: NCI:C3895 +xref: OMIM:209920 +xref: SNOMEDCT_US_2015_03_01:71904008 +xref: UMLS_CUI:C0242583 +is_a: DOID:627 ! severe combined immunodeficiency + +[Term] +id: DOID:5813 +name: purine nucleoside phosphorylase deficiency +def: "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function." [url:http\://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency of inosine phosphorylase" EXACT [SNOMEDCT_2005_07_31:124271005] +synonym: "deficiency of inosine phosphorylase" EXACT [SNOMEDCT_2005_07_31:60743005] +synonym: "PNP deficiency" EXACT [] +synonym: "Purine nucleoside phosphorylase deficiency" EXACT [SNOMEDCT_2005_07_31:191000008] +synonym: "Purine-Nucleoside Phosphorylase deficiency" EXACT [NCI2004_11_17:C3963] +xref: ICD10CM:D81.5 +xref: MSH:C562587 +xref: NCI:C3963 +xref: OMIM:613179 +xref: SNOMEDCT_US_2015_03_01:124271005 +xref: SNOMEDCT_US_2015_03_01:191000008 +xref: SNOMEDCT_US_2015_03_01:60743005 +xref: UMLS_CUI:C0268125 +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:5815 +name: cerebral lymphoma +alt_id: DOID:5814 +def: "A cerebrum cancer that affects the lymph cells and derives_from the brain." [url:http\://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1, url:http\://www.ncbi.nlm.nih.gov/pubmed/10563426, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000734.htm] +synonym: "brain primary lymphoma" EXACT [] +synonym: "primary cerebral lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:276836002] +synonym: "primary Lymphoma of Cerebrum" EXACT [NCI2004_11_17:C3883] +xref: NCI:C7611 +xref: SNOMEDCT_US_2015_03_01:276836002 +xref: UMLS_CUI:C0240803 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:5818 +name: ALPS-associated lymphoma +is_obsolete: true + +[Term] +id: DOID:5819 +name: localized lymphoma +is_obsolete: true + +[Term] +id: DOID:582 +name: hemoglobinuria +xref: ICD10CM:R82.3 +xref: ICD9CM:791.2 +xref: MSH:D006456 +xref: NCI:C34677 +xref: SNOMEDCT_US_2015_03_01:158571004 +xref: SNOMEDCT_US_2015_03_01:207317003 +xref: SNOMEDCT_US_2015_03_01:68600005 +xref: UMLS_CUI:C0019048 +is_a: DOID:576 ! proteinuria +is_a: DOID:583 ! hemolytic anemia + +[Term] +id: DOID:5820 +name: composite lymphoma +def: "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." [url:http\://www.cancer.gov/dictionary/?CdrID=633086] +xref: MSH:D058617 +xref: NCI:C38661 +xref: UMLS_CUI:C0545080 +is_a: DOID:707 ! B-cell lymphoma + +[Term] +id: DOID:5821 +name: methotrexate-associated lymphoproliferation +xref: NCI:C7184 +xref: UMLS_CUI:C1334749 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:5822 +name: gray zone lymphoma +def: "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas." [url:http\://en.wikipedia.org/wiki/Gray_zone_lymphoma] +xref: NCI:C37869 +xref: UMLS_CUI:C1333878 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:5823 +name: pediatric lymphoma +xref: NCI:C5165 +xref: UMLS_CUI:C1332979 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:5825 +name: adult lymphoma +xref: NCI:C7587 +xref: UMLS_CUI:C1332206 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:5826 +name: breast lymphoma +synonym: "lymphoma of breast" EXACT [] +synonym: "Lymphoma of the breast" EXACT [NCI2004_11_17:C4671] +synonym: "malignant lymphoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:278052009] +xref: SNOMEDCT_US_2015_03_01:278052009 +xref: UMLS_CUI:C0349669 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:5828 +name: endometrioid ovary carcinoma +synonym: "endometrioid carcinoma of ovary" RELATED [] +synonym: "endometrioid carcinoma ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254852002] +synonym: "Ovarian endometrioid carcinoma" EXACT [NCI2004_11_17:C7979] +xref: NCI:C7979 +xref: SNOMEDCT_US_2015_03_01:254852002 +xref: UMLS_CUI:C0346163 +is_a: DOID:3713 ! ovary adenocarcinoma + +[Term] +id: DOID:5829 +name: uterine ligament endometrioid adenocarcinoma +xref: NCI:C40138 +xref: UMLS_CUI:C1519868 +is_a: DOID:3700 ! uterine ligament adenocarcinoma + +[Term] +id: DOID:583 +name: hemolytic anemia +comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. +synonym: "ANEMIA HEMOLYTIC" EXACT [MTH:NOCODE] +xref: ICD10CM:D55-D59 +xref: MSH:D000743 +xref: NCI:C34376 +xref: OMIM:266120 +xref: OMIM:612631 +xref: SNOMEDCT_US_2015_03_01:191231008 +xref: SNOMEDCT_US_2015_03_01:191416001 +xref: SNOMEDCT_US_2015_03_01:61261009 +xref: UMLS_CUI:C0002878 +is_a: DOID:720 ! normocytic anemia + +[Term] +id: DOID:5830 +name: cervical endometrioid adenocarcinoma +synonym: "endometrioid carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C6343] +xref: NCI:C6343 +xref: UMLS_CUI:C1332913 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:5831 +name: fallopian tube endometrioid adenocarcinoma +alt_id: DOID:1972 +synonym: "endometrioid carcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6279] +synonym: "fallopian tube endometrioid cancer" EXACT [] +synonym: "fallopian tube endometrioid neoplasm" RELATED [] +xref: NCI:C40111 +xref: NCI:C6279 +xref: UMLS_CUI:C1333592 +xref: UMLS_CUI:C1517113 +is_a: DOID:3706 ! fallopian tube adenocarcinoma + +[Term] +id: DOID:5832 +name: metastatic endometrioid carcinoma +is_obsolete: true + +[Term] +id: DOID:5834 +name: spermatocytoma +synonym: "Spermatocytic Seminoma" EXACT [NCI2004_11_17:C4284] +synonym: "Spermatocytic seminoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:9294008] +xref: NCI:C39921 +xref: SNOMEDCT_US_2015_03_01:9294008 +xref: UMLS_CUI:C0334517 +is_a: DOID:4440 ! seminoma + +[Term] +id: DOID:5838 +name: extragonadal seminoma +alt_id: DOID:6136 +synonym: "primary extragonadal seminoma" EXACT [] +xref: NCI2009_04D:C7327 +xref: NCI:C7327 +xref: UMLS_CUI:C1333502 +is_a: DOID:4440 ! seminoma + +[Term] +id: DOID:5842 +name: testis seminoma +synonym: "Seminoma of testis" EXACT [SNOMEDCT_2005_07_31:188228003] +synonym: "Seminoma of testis (disorder)" EXACT [SNOMEDCT_2005_07_31:255107005] +synonym: "Seminoma testis" EXACT [SNOMEDCT_2005_07_31:154532006] +synonym: "Seminoma testis" EXACT [SNOMEDCT_2005_07_31:269603004] +synonym: "testicular Seminoma Pure" EXACT [NCI2004_11_17:C7328] +xref: MSH:D018239 +xref: NCI:C7328 +xref: NCI:C9309 +xref: SNOMEDCT_US_2015_03_01:154532006 +xref: SNOMEDCT_US_2015_03_01:188228003 +xref: SNOMEDCT_US_2015_03_01:189840000 +xref: SNOMEDCT_US_2015_03_01:189841001 +xref: SNOMEDCT_US_2015_03_01:255107005 +xref: SNOMEDCT_US_2015_03_01:269603004 +xref: SNOMEDCT_US_2015_03_01:36741007 +xref: SNOMEDCT_US_2015_03_01:443675005 +xref: UMLS_CUI:C0036631 +is_a: DOID:5556 ! testicular malignant germ cell cancer + +[Term] +id: DOID:5843 +name: posteroinferior myocardial infarction +xref: NCI:C36068 +xref: UMLS_CUI:C3642318 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5844 +name: myocardial infarction +def: "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." [PMID:17951287, url:https\://en.wikipedia.org/wiki/Myocardial_infarction] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "heart attack" EXACT [CSP2005:1393-3417] +synonym: "Myocardial infarct" EXACT [SNOMEDCT_2005_07_31:266288001] +xref: EFO:0000612 +xref: ICD10CM:I21 +xref: ICD10CM:I22 +xref: MSH:D009203 +xref: NCI:C27996 +xref: OMIM:608446 +xref: OMIM:608557 +xref: SNOMEDCT_US_2015_03_01:155304006 +xref: SNOMEDCT_US_2015_03_01:194796000 +xref: SNOMEDCT_US_2015_03_01:22298006 +xref: SNOMEDCT_US_2015_03_01:233824008 +xref: SNOMEDCT_US_2015_03_01:266288001 +xref: SNOMEDCT_US_2015_03_01:66514008 +xref: UMLS_CUI:C0027051 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:5845 +name: anterolateral myocardial infarction +xref: MSH:D056988 +xref: UMLS_CUI:C0262564 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5846 +name: septal myocardial infarction +xref: UMLS_CUI:C0746727 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5847 +name: posterior myocardial infarction +synonym: "Posterior myocardial infarction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194800006] +xref: SNOMEDCT_US_2015_03_01:194800006 +xref: UMLS_CUI:C0340319 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5848 +name: apical myocardial infarction +xref: NCI:C36073 +xref: UMLS_CUI:C3642319 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5849 +name: subendocardial myocardial infarction +xref: NCI:C35305 +xref: UMLS_CUI:C3642476 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:585 +name: nephrolithiasis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "calculus of kidney and ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:266556005] +synonym: "kidney stones" EXACT [] +synonym: "NEPHROLITHIASIS, CALCIUM OXALATE" EXACT [] +synonym: "Stone - kidney/ureter" EXACT [SNOMEDCT_2005_07_31:155867005] +synonym: "Stone - kidney/ureter" EXACT [SNOMEDCT_2005_07_31:266622009] +synonym: "UROLITHIASIS, CALCIUM OXALATE" EXACT [] +xref: EFO:0004253 +xref: ICD10CM:N20 +xref: ICD10CM:N20.2 +xref: ICD9CM:592 +xref: OMIM:167030 +xref: SNOMEDCT_US_2015_03_01:155867005 +xref: SNOMEDCT_US_2015_03_01:197792007 +xref: SNOMEDCT_US_2015_03_01:197796005 +xref: SNOMEDCT_US_2015_03_01:266556005 +xref: SNOMEDCT_US_2015_03_01:266622009 +xref: UMLS_CUI:C0156257 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:5850 +name: inferior myocardial infarction +synonym: "Inferior myocardial infarction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194804002] +xref: MSH:D056989 +xref: SNOMEDCT_US_2015_03_01:194804002 +xref: UMLS_CUI:C0340305 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5851 +name: posterolateral myocardial infarction +xref: NCI:C35672 +xref: UMLS_CUI:C3642463 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5852 +name: inferolateral myocardial infarct +xref: NCI:C35673 +xref: UMLS_CUI:C3537017 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5853 +name: lateral myocardial infarction +synonym: "Lateral myocardial infarction NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194801005] +xref: SNOMEDCT_US_2015_03_01:194801005 +xref: UMLS_CUI:C0340312 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5854 +name: silent myocardial infarction +synonym: "Silent myocardial infarction" EXACT [SNOMEDCT_2005_07_31:194796000] +synonym: "Silent myocardial infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:233843008] +xref: NCI:C35400 +xref: SNOMEDCT_US_2015_03_01:194796000 +xref: SNOMEDCT_US_2015_03_01:233843008 +xref: UMLS_CUI:C0340324 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5855 +name: anteroseptal myocardial infarction +xref: MSH:D056988 +xref: UMLS_CUI:C0262565 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:5857 +name: secondary chondrosarcoma +is_obsolete: true + +[Term] +id: DOID:5859 +name: periosteal chondrosarcoma +synonym: "Periosteal chondrosarcoma" EXACT [SNOMEDCT_2005_07_31:26211003] +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:5861 +name: myxoid chondrosarcoma +synonym: " Myxoid chondrosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189881008] +synonym: "Myxoid chondrosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:75622000] +xref: NCI:C4303 +xref: SNOMEDCT_US_2015_03_01:189881008 +xref: SNOMEDCT_US_2015_03_01:75622000 +xref: UMLS_CUI:C0334551 +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:5862 +name: localized chondrosarcoma +xref: NCI:C8778 +xref: UMLS_CUI:C0855011 +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:5863 +name: recurrent chondrosarcoma +synonym: "relapsed chondrosarcoma" EXACT [NCI2004_11_17:C8780] +is_obsolete: true + +[Term] +id: DOID:5865 +name: metastatic chondrosarcoma +is_obsolete: true + +[Term] +id: DOID:5866 +name: juxtacortical chondrosarcoma +synonym: "Juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26211003] +xref: NCI:C7357 +xref: SNOMEDCT_US_2015_03_01:26211003 +xref: UMLS_CUI:C0334549 +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:5867 +name: clear cell chondrosarcoma +synonym: "Clear cell chondrosarcoma" EXACT [NCI2004_11_17:C6475] +synonym: "Clear cell chondrosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128775007] +xref: NCI:C6475 +xref: SNOMEDCT_US_2015_03_01:128775007 +xref: UMLS_CUI:C1266167 +is_a: DOID:3371 ! chondrosarcoma + +[Term] +id: DOID:587 +name: tuberculous lung cavity +def: "A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum." [url:http\://www.bmj.com/cgi/reprint/1/4177/115.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "cavitary tuberculosis" EXACT [] +synonym: "tuberculous cavity of lung" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5870 +name: eosinophilic pneumonia +def: "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." [url:http\://en.wikipedia.org/wiki/Eosinophilic_pneumonia] +synonym: "Pneumonia, eosinophilic" EXACT [MTHICD9_2006:518.3] +xref: ICD10CM:J82 +xref: MSH:D011657 +xref: NCI:C35150 +xref: SNOMEDCT_US_2015_03_01:196145005 +xref: SNOMEDCT_US_2015_03_01:367542003 +xref: SNOMEDCT_US_2015_03_01:91053000 +xref: UMLS_CUI:C1527407 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:5872 +name: placental necrosis +is_obsolete: true + +[Term] +id: DOID:5874 +name: retroperitoneal germ cell neoplasm +synonym: "germ cell tumor of Retroperitoneum" EXACT [NCI2004_11_17:C6447] +xref: NCI:C6447 +xref: UMLS_CUI:C1335776 +is_a: DOID:5875 ! retroperitoneal cancer + +[Term] +id: DOID:5875 +name: retroperitoneal cancer +alt_id: DOID:12340 +alt_id: DOID:9860 +def: "An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum." [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space] +synonym: "malignant neoplasm of retroperitoneum" RELATED [ICD9CM_2006:158.0] +synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [ICD9CM_2006:158] +synonym: "malignant neoplasm of retroperitoneum and peritoneum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187817008] +synonym: "malignant retroperitoneal cancer" RELATED [] +synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [] +synonym: "malignant tumor of peritoneum and retroperitoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:187801002] +synonym: "neoplasm of retroperitoneum" EXACT [SNOMEDCT_2005_07_31:359767009] +synonym: "neoplasm of the retroperitoneum" EXACT [SNOMEDCT_2005_07_31:126872008] +synonym: "neoplasm of the retroperitoneum" EXACT [SNOMEDCT_2005_07_31:359770008] +synonym: "retroperitoneal neoplasm" EXACT [CSP2005:2005-3788] +synonym: "retroperitoneal neoplasm" EXACT [NCI2004_11_17:C3357] +synonym: "tumor of retroperitoneum (disorder)" EXACT [SNOMEDCT_2005_07_31:254617008] +xref: ICD10CM:C48 +xref: ICD10CM:C48.0 +xref: ICD9CM:158 +xref: ICD9CM:158.0 +xref: MSH:D012186 +xref: NCI:C3357 +xref: NCI:C3537 +xref: SNOMEDCT_US_2015_03_01:126872008 +xref: SNOMEDCT_US_2015_03_01:187801002 +xref: SNOMEDCT_US_2015_03_01:187805006 +xref: SNOMEDCT_US_2015_03_01:187817008 +xref: SNOMEDCT_US_2015_03_01:254617008 +xref: SNOMEDCT_US_2015_03_01:359767009 +xref: SNOMEDCT_US_2015_03_01:359770008 +xref: SNOMEDCT_US_2015_03_01:363420003 +xref: SNOMEDCT_US_2015_03_01:94092006 +xref: UMLS_CUI:C0035358 +xref: UMLS_CUI:C0153464 +xref: UMLS_CUI:C0153465 +is_a: DOID:0050686 ! organ system cancer + +[Term] +id: DOID:5876 +name: apocrine sweat gland neoplasm +synonym: "Apocrine tumor" EXACT [NCI2004_11_17:C6798] +xref: NCI:C6798 +xref: UMLS_CUI:C1332318 +is_a: DOID:2664 ! sweat gland neoplasm + +[Term] +id: DOID:5877 +name: endocardium cancer +alt_id: DOID:14538 +synonym: "malignant Endocardial tumor" EXACT [NCI2004_11_17:C4570] +synonym: "malignant neoplasm of endocardium" EXACT [MTHICD9_2006:164.1, SNOMEDCT_2005_07_31:93778001] +synonym: "malignant tumor of endocardium" EXACT [] +xref: NCI:C4570 +xref: NCI:C5346 +xref: SNOMEDCT_US_2015_03_01:126731002 +xref: SNOMEDCT_US_2015_03_01:363436001 +xref: SNOMEDCT_US_2015_03_01:93778001 +xref: UMLS_CUI:C0346612 +xref: UMLS_CUI:C1290401 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:5884 +name: benign intermediate mesothelioma +synonym: "Well-differentiated Papillary tumor of Mesothelium" EXACT [NCI2004_11_17:C7635] +xref: NCI:C7635 +xref: UMLS_CUI:C1337012 +is_a: DOID:2645 ! benign mesothelioma + +[Term] +id: DOID:5886 +name: mixed embryonal carcinoma and teratoma with seminoma of the testis +synonym: "mixed Embryonal carcinoma and teratoma with Seminoma of testis" EXACT [NCI2004_11_17:C6352] +is_obsolete: true + +[Term] +id: DOID:5888 +name: congenital cystic kidney disease +is_obsolete: true + +[Term] +id: DOID:5889 +name: anaplastic ependymoma +synonym: "anaplastic ependymoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134172003] +synonym: "Ependymoma, anaplastic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21589007] +synonym: "Undifferentiated Ependymoma" EXACT [NCI2004_11_17:C4049] +is_obsolete: true + +[Term] +id: DOID:589 +name: congenital hemolytic anemia +synonym: "hereditary hemolytic anemia" EXACT [] +xref: ICD10CM:D58.9 +xref: ICD9CM:282 +xref: ICD9CM:282.9 +xref: MSH:D000745 +xref: NCI:C34379 +xref: SNOMEDCT_US_2015_03_01:154794008 +xref: SNOMEDCT_US_2015_03_01:154801000 +xref: SNOMEDCT_US_2015_03_01:191208008 +xref: SNOMEDCT_US_2015_03_01:267556002 +xref: SNOMEDCT_US_2015_03_01:267558001 +xref: SNOMEDCT_US_2015_03_01:38911009 +xref: SNOMEDCT_US_2015_03_01:42601008 +xref: UMLS_CUI:C0002881 +is_a: DOID:583 ! hemolytic anemia + +[Term] +id: DOID:5890 +name: malignant adult ependymoma +xref: NCI:C8269 +xref: UMLS_CUI:C0280787 +is_a: DOID:5074 ! malignant ependymoma + +[Term] +id: DOID:5893 +name: childhood malignant mesenchymoma +xref: NCI:C8097 +xref: UMLS_CUI:C0279991 +is_a: DOID:5758 ! malignant mesenchymoma + +[Term] +id: DOID:5894 +name: adult malignant mesenchymoma +xref: NCI:C7947 +xref: UMLS_CUI:C0279548 +is_a: DOID:5758 ! malignant mesenchymoma + +[Term] +id: DOID:5895 +name: clear cell cystadenofibroma +synonym: "Clear cell cystadenofibroma" EXACT [SNOMEDCT_2005_07_31:58161009] +xref: NCI:C8988 +xref: SNOMEDCT_US_2015_03_01:58161009 +xref: UMLS_CUI:C1377853 +is_a: DOID:5482 ! cystadenofibroma + +[Term] +id: DOID:5896 +name: ovarian clear cell cystadenofibroma +xref: NCI:C40086 +xref: UMLS_CUI:C1518695 +is_a: DOID:5897 ! ovarian clear cell adenofibroma + +[Term] +id: DOID:5897 +name: ovarian clear cell adenofibroma +xref: NCI:C40085 +xref: UMLS_CUI:C1518694 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:5898 +name: polycystic kidney disease +synonym: "PCK - Polycystic kidney disease" EXACT [SNOMEDCT_2005_07_31:82525005] +synonym: "Polycystic kidney" EXACT [SNOMEDCT_2005_07_31:268332003] +synonym: "Polycystic kidney" EXACT [SNOMEDCT_2005_07_31:156973002] +synonym: "Polycystic kidney" EXACT [SNOMEDCT_2005_07_31:204954005] +synonym: "polycystic kidney" EXACT [CSP2005:0725-1693] +synonym: "Polycystic kidney disease" EXACT [SNOMEDCT_2005_07_31:204955006] +synonym: "Polycystic kidney disease NOS" EXACT [SNOMEDCT_2005_07_31:204956007] +synonym: "Polycystic kidney disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268233005] +synonym: "Polycystic kidney, unspecified type" EXACT [ICD9CM_2006:753.12] +is_obsolete: true + +[Term] +id: DOID:5900 +name: meningeal melanocytoma +synonym: "Leptomeningeal melanocytoma" EXACT [NCI2004_11_17:C4662] +synonym: "melanocytoma of meninges (disorder)" EXACT [SNOMEDCT_2005_07_31:277527003] +xref: NCI:C4662 +xref: SNOMEDCT_US_2015_03_01:128730009 +xref: SNOMEDCT_US_2015_03_01:277527003 +xref: UMLS_CUI:C1266113 +is_a: DOID:4955 ! central nervous system melanocytic neoplasm + +[Term] +id: DOID:5907 +name: penis non-invasive verrucous carcinoma +synonym: "Non-Invasive Penile verrucous carcinoma" EXACT [NCI2004_11_17:C27791] +xref: NCI:C27791 +xref: UMLS_CUI:C1334984 +is_a: DOID:5908 ! penis verrucous carcinoma + +[Term] +id: DOID:5908 +name: penis verrucous carcinoma +synonym: "verrucous squamous carcinoma of penis" EXACT [NCI2004_11_17:C6982] +xref: NCI:C6982 +xref: UMLS_CUI:C1336955 +is_a: DOID:5518 ! penis squamous cell carcinoma + +[Term] +id: DOID:591 +name: phobic disorder +def: "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] +xref: ICD10CM:F40 +xref: ICD10CM:F40.9 +xref: ICD9CM:300.2 +xref: ICD9CM:300.20 +xref: MSH:D010698 +xref: NCI:C35420 +xref: SNOMEDCT_US_2015_03_01:154884005 +xref: SNOMEDCT_US_2015_03_01:191720001 +xref: SNOMEDCT_US_2015_03_01:191721002 +xref: SNOMEDCT_US_2015_03_01:191734001 +xref: SNOMEDCT_US_2015_03_01:192393009 +xref: SNOMEDCT_US_2015_03_01:192398000 +xref: SNOMEDCT_US_2015_03_01:268630000 +xref: SNOMEDCT_US_2015_03_01:386808001 +xref: SNOMEDCT_US_2015_03_01:386810004 +xref: SNOMEDCT_US_2015_03_01:52039009 +xref: SNOMEDCT_US_2015_03_01:65673007 +xref: UMLS_CUI:C0349231 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:5913 +name: brachial plexus neoplasm +synonym: "tumor of the Brachial Plexus" EXACT [NCI2004_11_17:C5823] +xref: NCI:C5823 +xref: UMLS_CUI:C1332602 +is_a: DOID:4693 ! nerve plexus neoplasm + +[Term] +id: DOID:5914 +name: nonencapsulated sclerosing carcinoma +synonym: "Nonencapsulated Sclerosing neoplasm" EXACT [NCI2004_11_17:C7427] +synonym: "Papillary carcinoma, diffuse sclerosing" EXACT [SNOMEDCT_2005_07_31:62681000] +xref: NCI:C7427 +xref: SNOMEDCT_US_2015_03_01:62681000 +xref: UMLS_CUI:C0334330 +is_a: DOID:3969 ! papillary thyroid carcinoma + +[Term] +id: DOID:5915 +name: uterus intravascular leiomyomatosis +synonym: "Intravascular leiomyomatosis of Uterus" EXACT [NCI2004_11_17:C5356] +is_a: DOID:5916 ! uterine corpus leiomyomatosis + +[Term] +id: DOID:5916 +name: uterine corpus leiomyomatosis +xref: NCI:C40170 +xref: UMLS_CUI:C1519855 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:5917 +name: uterine corpus diffuse leiomyomatosis +is_a: DOID:5916 ! uterine corpus leiomyomatosis + +[Term] +id: DOID:5918 +name: localized unresectable adult primary liver cancer +synonym: "localized Unresectable adult Liver carcinoma" EXACT [NCI2004_11_17:C7878] +is_obsolete: true + +[Term] +id: DOID:5919 +name: localized unresectable adult primary hepatoma +is_obsolete: true + +[Term] +id: DOID:5920 +name: malignant fibrous histiocytoma metastatic +is_obsolete: true + +[Term] +id: DOID:5921 +name: adult brainstem mixed glioma +synonym: "adult brain stem mixed glioma" EXACT [NCI2004_11_17:C9371] +xref: NCI:C9371 +xref: UMLS_CUI:C1377915 +is_a: DOID:4813 ! adult brain stem glioma + +[Term] +id: DOID:5922 +name: adult brainstem astrocytoma +xref: NCI:C6954 +xref: UMLS_CUI:C1332191 +is_a: DOID:4813 ! adult brain stem glioma + +[Term] +id: DOID:5923 +name: distal biliary tract carcinoma +synonym: "carcinoma of the Distal biliary tract" EXACT [NCI2004_11_17:C7109] +xref: NCI:C7109 +xref: UMLS_CUI:C1333308 +is_a: DOID:4897 ! bile duct carcinoma + +[Term] +id: DOID:5924 +name: recurrent extrahepatic bile duct cancer +synonym: "recurrent extrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C7893] +is_obsolete: true + +[Term] +id: DOID:5926 +name: extrahepatic bile duct small cell adenocarcinoma +synonym: "Oat cell extrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C5845] +xref: NCI:C5845 +xref: UMLS_CUI:C1335979 +is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma + +[Term] +id: DOID:5928 +name: autosomal recessive polycystic kidney +synonym: "Autosomal Recessive Polycystic kidney disease" EXACT [MTH:NOCODE] +synonym: "Polycystic kidney disease, infantile type (disorder)" EXACT [SNOMEDCT_2005_07_31:28770003] +synonym: "Polycystic kidney, autosomal recessive" EXACT [ICD9CM_2006:753.14] +is_obsolete: true + +[Term] +id: DOID:593 +name: agoraphobia +def: "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] +synonym: "Fear of open spaces (finding)" EXACT [SNOMEDCT_2005_07_31:247830007] +xref: ICD10CM:F40.0 +xref: ICD10CM:F40.00 +xref: MSH:D000379 +xref: NCI:C34362 +xref: SNOMEDCT_US_2015_03_01:154885006 +xref: SNOMEDCT_US_2015_03_01:192394003 +xref: SNOMEDCT_US_2015_03_01:247830007 +xref: SNOMEDCT_US_2015_03_01:70691001 +xref: UMLS_CUI:C0001818 +is_a: DOID:591 ! phobic disorder + +[Term] +id: DOID:5931 +name: unresectable extrahepatic bile duct cancer +synonym: "Unresectable extrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C7892] +is_obsolete: true + +[Term] +id: DOID:5933 +name: resectable bile duct cancer +synonym: "Resectable bile duct cancer" EXACT [NCI2004_11_17:C8640] +is_obsolete: true + +[Term] +id: DOID:5934 +name: localized extrahepatic bile duct cancer +synonym: "localized extrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C7891] +is_obsolete: true + +[Term] +id: DOID:5936 +name: ovarian mixed germ cell neoplasm +synonym: "mixed germ cell tumor of Ovary" EXACT [NCI2004_11_17:C8114] +xref: NCI:C8114 +xref: UMLS_CUI:C0280135 +is_a: DOID:3306 ! mixed germ cell cancer +is_a: DOID:5351 ! ovarian primitive germ cell tumor + +[Term] +id: DOID:5937 +name: autosomal dominant polycystic kidney +synonym: "Polycystic kidney disease, adult type (disorder)" EXACT [SNOMEDCT_2005_07_31:28728008] +synonym: "Polycystic kidney, autosomal dominant" EXACT [ICD9CM_2006:753.13] +is_obsolete: true + +[Term] +id: DOID:594 +name: panic disorder +def: "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress." [url:http\://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "panic anxiety syndrome" EXACT [CSP2005:4000-0280] +xref: EFO:0004262 +xref: MSH:D016584 +xref: NCI:C34890 +xref: OMIM:167870 +xref: OMIM:607853 +xref: OMIM:609985 +xref: SNOMEDCT_US_2015_03_01:191705007 +xref: SNOMEDCT_US_2015_03_01:192400001 +xref: SNOMEDCT_US_2015_03_01:268627007 +xref: SNOMEDCT_US_2015_03_01:371631005 +xref: UMLS_CUI:C0030319 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:5940 +name: malignant peripheral nerve sheath tumor +synonym: "malignant neoplasm of the peripheral nerve Sheath" EXACT [NCI2004_11_17:C3798] +synonym: "malignant peripheral nerve sheath tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404037002] +synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:19897006] +synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134324009] +xref: MSH:D009442 +xref: NCI:C3798 +xref: SNOMEDCT_US_2015_03_01:134324009 +xref: SNOMEDCT_US_2015_03_01:189949003 +xref: SNOMEDCT_US_2015_03_01:19897006 +xref: SNOMEDCT_US_2015_03_01:404037002 +xref: SNOMEDCT_US_2015_03_01:77418004 +xref: UMLS_CUI:C0751690 +is_a: DOID:3193 ! peripheral nerve sheath neoplasm + +[Term] +id: DOID:5941 +name: lung carcinoma metastatic to the brain +is_obsolete: true + +[Term] +id: DOID:5948 +name: angiokeratoma of mibelli +synonym: "Angiokeratoma of Mibelli (disorder)" EXACT [SNOMEDCT_2005_07_31:62727008] +xref: NCI:C3927 +xref: SNOMEDCT_US_2015_03_01:62727008 +xref: UMLS_CUI:C0263640 +is_a: DOID:479 ! angiokeratoma + +[Term] +id: DOID:5949 +name: angiokeratoma circumscriptum +synonym: "Angiokeratoma circumscriptum (disorder)" EXACT [SNOMEDCT_2005_07_31:21848000] +xref: NCI:C7751 +xref: SNOMEDCT_US_2015_03_01:21848000 +xref: UMLS_CUI:C0263638 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:5957 +name: bladder urachal squamous cell carcinoma +xref: NCI:C39845 +xref: UMLS_CUI:C1511206 +is_a: DOID:5958 ! bladder urachal carcinoma + +[Term] +id: DOID:5958 +name: bladder urachal carcinoma +xref: NCI:C39842 +xref: UMLS_CUI:C1511205 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:5963 +name: schistosoma hematobium-related bladder squamous cell carcinoma +is_obsolete: true + +[Term] +id: DOID:5973 +name: kidney pelvis papillary carcinoma +synonym: "Papillary carcinoma of renal Pelvis" EXACT [NCI2004_11_17:C6148] +xref: NCI:C6148 +xref: UMLS_CUI:C1377909 +is_a: DOID:5974 ! renal pelvis transitional cell carcinoma + +[Term] +id: DOID:5974 +name: renal pelvis transitional cell carcinoma +subset: DO_cancer_slim +synonym: "Urothelial cell carcinoma of renal Pelvis" EXACT [NCI2004_11_17:C7355] +xref: NCI:C7355 +xref: UMLS_CUI:C0238410 +is_a: DOID:4919 ! renal pelvis carcinoma + +[Term] +id: DOID:5975 +name: renal pelvis papillary tumor +synonym: "Papillary neoplasm of renal Pelvis" EXACT [NCI2004_11_17:C8603] +xref: NCI:C8603 +xref: UMLS_CUI:C0853688 +is_a: DOID:5977 ! renal pelvis neoplasm + +[Term] +id: DOID:5976 +name: occlusion precerebral artery +alt_id: DOID:10961 +alt_id: DOID:1547 +synonym: "Occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [] +synonym: "occlusion and stenosis of precerebral artery" RELATED [] +xref: ICD10CM:I65.9 +xref: ICD9CM:433 +xref: ICD9CM:433.3 +xref: ICD9CM:433.9 +xref: UMLS_CUI:C0155725 +xref: UMLS_CUI:C0155727 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:5977 +name: renal pelvis neoplasm +synonym: "neoplasm of renal pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:126881002] +synonym: "tumor of kidney Pelvis" EXACT [NCI2004_11_17:C8404] +synonym: "tumor of renal pelvis (disorder)" EXACT [SNOMEDCT_2005_07_31:254926009] +xref: NCI:C8404 +xref: SNOMEDCT_US_2015_03_01:126881002 +xref: SNOMEDCT_US_2015_03_01:254926009 +xref: UMLS_CUI:C0346260 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:5979 +name: human papilloma virus related vulvar squamous cell carcinoma +alt_id: DOID:5978 +def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva." [url:http\://cebp.aacrjournals.org/content/18/7/2061.abstract, url:http\://emedicine.medscape.com/article/219110-overview] +synonym: "HPV-Related Vulvar squamous cell carcinoma" EXACT [NCI2004_11_17:C27679] +synonym: "vulvar condylomatous carcinoma" EXACT [] +is_obsolete: true + +[Term] +id: DOID:5980 +name: hemispheric anaplastic astrocytoma +synonym: "Undifferentiated Hemispheric astrocytoma" EXACT [NCI2004_11_17:C5123] +is_obsolete: true + +[Term] +id: DOID:5981 +name: hamartoma of hypothalamus +synonym: "hamartoma of hypothalamus (disorder)" EXACT [SNOMEDCT_2005_07_31:237714006] +synonym: "Hypothalamic hamartoma" EXACT [NCI2004_11_17:C4385] +is_obsolete: true + +[Term] +id: DOID:5982 +name: kidney fibrosarcoma +synonym: "Fibrosarcoma of the kidney" EXACT [NCI2004_11_17:C7726] +xref: NCI:C7726 +xref: UMLS_CUI:C0238208 +is_a: DOID:4242 ! kidney sarcoma + +[Term] +id: DOID:5983 +name: kidney osteogenic sarcoma +def: "A kidney sarcoma that starts in the bones and that is located_in the kidney." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1768219] +synonym: "renal Osteogenic sarcoma" EXACT [NCI2004_11_17:C6181] +xref: NCI:C6181 +xref: UMLS_CUI:C1335747 +is_a: DOID:4242 ! kidney sarcoma + +[Term] +id: DOID:5989 +name: clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres +is_obsolete: true + +[Term] +id: DOID:599 +name: specific phobia +def: "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations." [url:http\://en.wikipedia.org/wiki/Specific_phobia, url:http\://www.healthyplace.com/other-info/psychiatric-disorder-definitions/specific-simple-phobia/menu-id-71/] +synonym: "simple phobia" EXACT [] +xref: ICD10CM:F40.2 +xref: MSH:C562465 +xref: NCI:C35284 +xref: OMIM:608251 +xref: SNOMEDCT_US_2015_03_01:192396001 +xref: SNOMEDCT_US_2015_03_01:54587008 +xref: UMLS_CUI:C0236801 +is_a: DOID:591 ! phobic disorder + +[Term] +id: DOID:5990 +name: internal auditory canal meningioma +synonym: "meningioma of the Internal Auditory canal" EXACT [NCI2004_11_17:C5307] +xref: NCI:C5307 +xref: UMLS_CUI:C1334227 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:5991 +name: early onset breast ovarian cancer syndrome +is_obsolete: true + +[Term] +id: DOID:5996 +name: blunt duct adenosis of breast +synonym: "Blunt duct Adenosis of the breast" EXACT [NCI2004_11_17:C6941] +xref: NCI:C6941 +xref: UMLS_CUI:C1332573 +is_a: DOID:5998 ! microglandular adenosis + +[Term] +id: DOID:5997 +name: non-proliferative fibrocystic change of the breast +synonym: "Non-Proliferative Fibrocystic Change" EXACT [NCI2004_11_17:C6943] +xref: NCI:C6943 +xref: UMLS_CUI:C1332628 +is_a: DOID:10354 ! breast fibrocystic disease + +[Term] +id: DOID:5998 +name: microglandular adenosis +synonym: "Adenosis - breast" EXACT [SNOMEDCT_2005_07_31:270893004] +synonym: "Adenosis of the breast" EXACT [NCI2004_11_17:C3484] +xref: MSH:D005348 +xref: NCI:C3484 +xref: SNOMEDCT_US_2015_03_01:270893004 +xref: UMLS_CUI:C0085750 +is_a: DOID:3463 ! breast disease + +[Term] +id: DOID:5999 +name: apocrine adenosis of breast +synonym: "Apocrine Adenosis of the breast" EXACT [NCI2004_11_17:C5198] +xref: NCI:C5198 +xref: UMLS_CUI:C1332314 +is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast + +[Term] +id: DOID:600 +name: animal phobia +def: "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all." [url:http\://hubpages.com/hub/list-of-animal-phobias] +synonym: "Fear of animals (finding)" EXACT [SNOMEDCT_2005_07_31:247848003] +synonym: "Zoophobia (finding)" EXACT [SNOMEDCT_2005_07_31:54307006] +xref: NCI:C35273 +xref: SNOMEDCT_US_2015_03_01:192396001 +xref: SNOMEDCT_US_2015_03_01:54307006 +xref: UMLS_CUI:C0233711 +is_a: DOID:599 ! specific phobia + +[Term] +id: DOID:6000 +name: congestive heart failure +alt_id: DOID:395 +def: "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." [url:http\://en.wikipedia.org/wiki/Heart_disease] +synonym: "Cardiac Failure Congestive" EXACT [NCI2004_11_17:C3080] +synonym: "CHF" EXACT [CSP2005:1393-3597] +synonym: "Congestive heart disease" EXACT [MTHICD9_2006:428.0] +synonym: "Weak heart" EXACT [MTHICD9_2006:428.9] +xref: ICD10CM:I50 +xref: ICD10CM:I50.9 +xref: ICD9CM:428 +xref: ICD9CM:428.0 +xref: ICD9CM:428.9 +xref: MSH:D006333 +xref: NCI:C3080 +xref: NCI:C50577 +xref: SNOMEDCT_US_2015_03_01:155374007 +xref: SNOMEDCT_US_2015_03_01:155375008 +xref: SNOMEDCT_US_2015_03_01:155377000 +xref: SNOMEDCT_US_2015_03_01:195108009 +xref: SNOMEDCT_US_2015_03_01:195117009 +xref: SNOMEDCT_US_2015_03_01:266248006 +xref: SNOMEDCT_US_2015_03_01:266308000 +xref: SNOMEDCT_US_2015_03_01:42343007 +xref: SNOMEDCT_US_2015_03_01:84114007 +xref: UMLS_CUI:C0018801 +xref: UMLS_CUI:C0018802 +is_a: DOID:114 ! heart disease + +[Term] +id: DOID:6001 +name: breast fibrosarcoma +synonym: "Fibrosarcoma of the breast" EXACT [NCI2004_11_17:C5185] +xref: NCI:C5185 +xref: UMLS_CUI:C1332630 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:6003 +name: aleukemic leukemia cutis +xref: NCI:C4983 +xref: UMLS_CUI:C0887846 +is_a: DOID:6004 ! aleukemic leukemia + +[Term] +id: DOID:6004 +name: aleukemic leukemia +def: "A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood." [url:http\://www.merriam-webster.com/medical/aleukemic%20leukemia] +synonym: "aleukemic myelosis" RELATED [] +xref: NCI:C4982 +xref: SNOMEDCT_US_2015_03_01:112688008 +xref: SNOMEDCT_US_2015_03_01:154602005 +xref: SNOMEDCT_US_2015_03_01:190028007 +xref: SNOMEDCT_US_2015_03_01:269633006 +xref: SNOMEDCT_US_2015_03_01:302856006 +xref: UMLS_CUI:C0877858 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:6013 +name: mediastinum embryonal carcinoma +synonym: "Embryonal carcinoma of mediastinum" EXACT [NCI2004_11_17:C6441] +synonym: "embryonal carcinoma of the mediastinum" RELATED [] +is_obsolete: true + +[Term] +id: DOID:6014 +name: mediastinal germ cell cancer +alt_id: DOID:5558 +synonym: "germ cell tumor of mediastinum" EXACT [NCI2004_11_17:C6437] +synonym: "malignant germ cell tumor of mediastinum" EXACT [NCI2004_11_17:C6446] +synonym: "mediastinal germ cell neoplasm" EXACT [] +is_obsolete: true + +[Term] +id: DOID:6015 +name: adult central nervous system teratoma +synonym: "teratoma of the adult central nervous system" EXACT [NCI2004_11_17:C5794] +xref: NCI:C5794 +xref: UMLS_CUI:C1370506 +is_a: DOID:3640 ! central nervous system teratoma + +[Term] +id: DOID:6016 +name: adult central nervous system mature teratoma +xref: NCI:C27400 +xref: UMLS_CUI:C1332194 +is_a: DOID:6015 ! adult central nervous system teratoma + +[Term] +id: DOID:6017 +name: central nervous system mature teratoma +synonym: "Mature teratoma of the CNS" EXACT [NCI2004_11_17:C7013] +xref: NCI:C7013 +xref: UMLS_CUI:C1332886 +is_a: DOID:3640 ! central nervous system teratoma + +[Term] +id: DOID:6018 +name: adult central nervous system immature teratoma +xref: NCI:C27401 +xref: UMLS_CUI:C1332193 +is_a: DOID:6015 ! adult central nervous system teratoma + +[Term] +id: DOID:6019 +name: central nervous system immature teratoma +synonym: "Immature teratoma of the CNS" EXACT [NCI2004_11_17:C7014] +xref: NCI:C7014 +xref: UMLS_CUI:C1332883 +is_a: DOID:3640 ! central nervous system teratoma + +[Term] +id: DOID:602 +name: cancerophobia +synonym: "cancer phobia" EXACT [SNOMEDCT_2005_07_31:300930008] +synonym: "Fear of getting cancer (finding)" EXACT [SNOMEDCT_2005_07_31:34563004] +xref: NCI:C35492 +xref: SNOMEDCT_US_2015_03_01:191730005 +xref: SNOMEDCT_US_2015_03_01:300930008 +xref: SNOMEDCT_US_2015_03_01:34563004 +xref: UMLS_CUI:C0233705 +is_a: DOID:0060048 ! nosophobia + +[Term] +id: DOID:6020 +name: metastatic MPNST +is_obsolete: true + +[Term] +id: DOID:6021 +name: malignant testicular Leydig cell tumor +xref: NCI:C39942 +xref: UMLS_CUI:C1515288 +is_a: DOID:0050616 ! malignant Leydig cell tumor + +[Term] +id: DOID:6022 +name: central nervous system melanoma +synonym: "melanoma of the CNS" EXACT [NCI2004_11_17:C5505] +is_obsolete: true + +[Term] +id: DOID:6023 +name: metastasis to the parathyroid gland +synonym: "metastatic tumor to the Parathyroid" EXACT [NCI2004_11_17:C8557] +is_obsolete: true + +[Term] +id: DOID:6024 +name: selective IgE deficiency disease +synonym: "Selective IgE Immunodeficiency" EXACT [NCI2004_11_17:C27143] +synonym: "Selective immunoglobulin E deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234540007] +xref: NCI:C27143 +xref: SNOMEDCT_US_2015_03_01:234540007 +xref: UMLS_CUI:C0398694 +is_a: DOID:11702 ! dysgammaglobulinemia + +[Term] +id: DOID:6025 +name: selective immunoglobulin deficiency disease +xref: NCI:C27870 +xref: UMLS_CUI:C1335942 +is_a: DOID:2115 ! B cell deficiency + +[Term] +id: DOID:603 +name: AIDS phobia +xref: NCI:C35614 +xref: UMLS_CUI:C0853870 +is_a: DOID:0060048 ! nosophobia + +[Term] +id: DOID:6031 +name: disseminated squamous cell carcinoma +synonym: "Disseminated squamous cell carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:300987004] +is_obsolete: true + +[Term] +id: DOID:6032 +name: juvenile type testicular granulosa cell tumor +alt_id: DOID:5332 +synonym: "Juvenile granulosa cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:77029009] +synonym: "Juvenile granulosa cell tumour" EXACT [SNOMEDCT_2005_07_31:189735004] +synonym: "juvenile type granulosa cell neoplasm" EXACT [] +synonym: "Juvenile type Granulosa cell tumor" EXACT [NCI2004_11_17:C4207] +xref: NCI:C39947 +xref: NCI:C4207 +xref: SNOMEDCT_US_2015_03_01:189735004 +xref: SNOMEDCT_US_2015_03_01:77029009 +xref: UMLS_CUI:C0334403 +xref: UMLS_CUI:C1515285 +is_a: DOID:5331 ! testicular granulosa cell tumor + +[Term] +id: DOID:6033 +name: heart fibrosarcoma +synonym: "cardiac fibrosarcoma" EXACT [] +synonym: "Fibrosarcoma of the Heart" EXACT [NCI2004_11_17:C5361] +xref: NCI:C5361 +xref: UMLS_CUI:C1332844 +is_a: DOID:5262 ! heart sarcoma + +[Term] +id: DOID:6034 +name: heart malignant hemangiopericytoma +def: "A heart sarcoma that is a soft tissue sarcoma located in the heart." [url:http\://www.ncbi.nlm.nih.gov/pubmed/16434949] +synonym: "malignant hemangiopericytoma of Heart" EXACT [NCI2004_11_17:C5365] +xref: NCI:C5365 +xref: UMLS_CUI:C1334567 +is_a: DOID:5262 ! heart sarcoma + +[Term] +id: DOID:6037 +name: spindle cell intraocular melanoma +def: "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3] +subset: DO_cancer_slim +synonym: "Uveal spindle cell melanoma" EXACT [NCI2004_11_17:C7986] +xref: NCI:C7986 +xref: UMLS_CUI:C0279687 +is_a: DOID:1752 ! ocular melanoma + +[Term] +id: DOID:6039 +name: uveal melanoma +def: "A uveal cancer that has_material_basis_in uvea pigment cells." [url:http\://cancergenome.nih.gov/cancersselected/UvealMelanoma, url:http\://en.wikipedia.org/wiki/Uveal_melanoma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "melanoma of Uvea" EXACT [NCI2004_11_17:C7712] +xref: MSH:C536494 +xref: NCI:C7712 +xref: OMIM:155720 +xref: OMIM:606660 +xref: OMIM:606661 +xref: ORDO:39044 +xref: UMLS_CUI:C0220633 +is_a: DOID:3479 ! uveal cancer + +[Term] +id: DOID:6041 +name: choroid spindle cell melanoma +def: "A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print] +synonym: "spindle cell melanoma of the Choroid" EXACT [NCI2004_11_17:C6099] +xref: NCI:C6099 +xref: UMLS_CUI:C1333027 +is_a: DOID:6438 ! malignant choroid melanoma + +[Term] +id: DOID:6043 +name: ciliary body spindle cell melanoma +def: "A spindle intraocular melanoma that is located_in the ciliary body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5] +synonym: "spindle cell melanoma of the Ciliary body" EXACT [NCI2004_11_17:C6117] +xref: NCI:C6117 +xref: UMLS_CUI:C1333052 +is_a: DOID:6037 ! spindle cell intraocular melanoma + +[Term] +id: DOID:6045 +name: AIDS retinopathy +def: "A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms." [url:http\://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq, url:http\://www.ophthobook.com/chapters/infections] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:6048 +name: telangiectatic glomangioma +xref: NCI:C5345 +xref: UMLS_CUI:C1336699 +is_a: DOID:2435 ! skin glomangioma + +[Term] +id: DOID:605 +name: flying phobia +def: "A specific phobia that is characterized by a fear of flying." [url:http\://en.wikipedia.org/wiki/Fear_of_flying] +xref: NCI:C35413 +xref: SNOMEDCT_US_2015_03_01:192045005 +xref: SNOMEDCT_US_2015_03_01:247854002 +xref: UMLS_CUI:C0344318 +is_a: DOID:599 ! specific phobia + +[Term] +id: DOID:6050 +name: esophageal disease +alt_id: DOID:10117 +alt_id: DOID:10118 +alt_id: DOID:11798 +def: "A gastrointestinal system disease that is located_in the esophagus." [url:http\://en.wikipedia.org/wiki/Esophageal_disease] +synonym: "esophageal Ulcer" EXACT [NCI2004_11_17:C26950] +xref: ICD10CM:K22.9 +xref: ICD9CM:530 +xref: ICD9CM:530.9 +xref: MSH:D004935 +xref: NCI:C3027 +xref: SNOMEDCT_US_2015_03_01:155671005 +xref: SNOMEDCT_US_2015_03_01:155680005 +xref: SNOMEDCT_US_2015_03_01:196626000 +xref: SNOMEDCT_US_2015_03_01:266497000 +xref: SNOMEDCT_US_2015_03_01:37657006 +xref: UMLS_CUI:C0014852 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:6052 +name: central nervous system childhood germ cell tumor +synonym: "pediatric germ cell neoplasm of CNS" EXACT [NCI2004_11_17:C6205] +xref: NCI:C6205 +xref: UMLS_CUI:C0278754 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:6053 +name: pediatric germ cell cancer +synonym: "pediatric germ cell neoplasm" EXACT [NCI2004_11_17:C7928] +synonym: "pediatric germ cell tumor" RELATED [] +xref: NCI:C7928 +xref: UMLS_CUI:C0279014 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:6054 +name: frontal sinus Schneiderian papilloma +synonym: "Schneiderian papilloma of the Frontal sinus" EXACT [NCI2004_11_17:C6837] +xref: NCI:C6837 +xref: UMLS_CUI:C1333645 +is_a: DOID:1361 ! frontal sinus neoplasm + +[Term] +id: DOID:6055 +name: paranasal sinus Schneiderian papilloma +synonym: "Schneiderian papilloma of Accessory sinus" EXACT [NCI2004_11_17:C6835] +is_obsolete: true + +[Term] +id: DOID:6059 +name: nasal vestibule papilloma +synonym: "papilloma of nasal vestibule (disorder)" EXACT [SNOMEDCT_2005_07_31:232364006] +synonym: "squamous papilloma of the nasal Vestibule" EXACT [NCI2004_11_17:C4369] +xref: NCI:C4369 +xref: SNOMEDCT_US_2015_03_01:232364006 +xref: UMLS_CUI:C0339826 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:606 +name: Brown-Sequard syndrome +synonym: "Brown-Squard syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:27982003] +xref: ICD10CM:G83.81 +xref: MSH:D018437 +xref: NCI:C84601 +xref: SNOMEDCT_US_2015_03_01:27982003 +xref: UMLS_CUI:C0242644 +is_a: DOID:607 ! paraplegia + +[Term] +id: DOID:6065 +name: urinary tract non-invasive transitional cell neoplasm +xref: NCI:C39854 +xref: UMLS_CUI:C1518361 +is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm + +[Term] +id: DOID:6067 +name: ovarian mucinous neoplasm +alt_id: DOID:3712 +synonym: "malignant ovarian mucinous neoplasm" EXACT [] +synonym: "mucinous tumor of Ovary" EXACT [NCI2004_11_17:C5242] +synonym: "Ovarian mucinous tumor" EXACT [SNOMEDCT_2005_07_31:189683008] +xref: NCI:C40033 +xref: NCI:C5242 +xref: SNOMEDCT_US_2015_03_01:189683008 +xref: UMLS_CUI:C1335168 +xref: UMLS_CUI:C1518233 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:607 +name: paraplegia +synonym: "Paraplegia, lower" EXACT [MTHICD9_2006:344.1] +xref: ICD10CM:G82.2 +xref: ICD10CM:G82.20 +xref: ICD9CM:344.1 +xref: MSH:D010264 +xref: NCI:C50687 +xref: SNOMEDCT_US_2015_03_01:155031004 +xref: SNOMEDCT_US_2015_03_01:60389000 +xref: UMLS_CUI:C0030486 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:6071 +name: resectable duodenal carcinoma +is_obsolete: true + +[Term] +id: DOID:6077 +name: localized malignant mesothelioma +is_obsolete: true + +[Term] +id: DOID:6078 +name: secondary malignant neoplasm to the nervous system +is_obsolete: true + +[Term] +id: DOID:6079 +name: drop secondary malignant neoplasm to the spinal cord +synonym: "Drop metastatic tumor to the Spinal Cord" EXACT [NCI2004_11_17:C5439] +is_obsolete: true + +[Term] +id: DOID:6080 +name: spinal cord secondary cancer +synonym: "metastatic tumor to the Spinal Cord" EXACT [NCI2004_11_17:C4585] +synonym: "secondary malignant neoplasm of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:94600009] +is_obsolete: true + +[Term] +id: DOID:6081 +name: childhood testicular endodermal sinus neoplasm +synonym: "pediatric testicular Yolk Sac tumor" EXACT [NCI2004_11_17:C6543] +is_obsolete: true + +[Term] +id: DOID:6082 +name: pediatric testicular germ cell tumor +synonym: "pediatric testicular germ cell neoplasm" EXACT [NCI2004_11_17:C6552] +xref: NCI:C6552 +xref: UMLS_CUI:C0796663 +is_a: DOID:5557 ! testicular germ cell cancer + +[Term] +id: DOID:6083 +name: childhood ovarian endodermal sinus tumor +synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [] +synonym: "pediatric Ovarian Yolk Sac tumor" EXACT [NCI2004_11_17:C6551] +xref: NCI:C6551 +xref: UMLS_CUI:C1332993 +is_a: DOID:5350 ! ovarian endodermal sinus tumor + +[Term] +id: DOID:6084 +name: pediatric ovarian germ cell tumor +synonym: "pediatric Ovarian germ cell neoplasm" EXACT [NCI2004_11_17:C8588] +xref: NCI:C8588 +xref: UMLS_CUI:C0796664 +is_a: DOID:2156 ! ovarian germ cell cancer + +[Term] +id: DOID:6085 +name: meningeal melanoma +synonym: "melanoma of the leptomeninges" EXACT [] +xref: NCI:C5317 +xref: UMLS_CUI:C1334386 +is_a: DOID:6086 ! malignant leptomeningeal tumor + +[Term] +id: DOID:6086 +name: malignant leptomeningeal tumor +synonym: "malignant tumor of Leptomeninges" EXACT [NCI2004_11_17:C8506] +xref: NCI:C8506 +xref: UMLS_CUI:C1334596 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:6087 +name: predominant disturbance of emotions +is_obsolete: true + +[Term] +id: DOID:6088 +name: acute stress disorder +def: "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD." [url:http\://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm] +synonym: "traumatic stress disorder" EXACT [] +xref: ICD9CM:308.3 +xref: SNOMEDCT_US_2015_03_01:192040000 +xref: SNOMEDCT_US_2015_03_01:192043003 +xref: UMLS_CUI:C0029488 +is_a: DOID:2030 ! anxiety disorder + +[Term] +id: DOID:6089 +name: pediatric leptomeningeal melanoma +xref: NCI:C5318 +xref: UMLS_CUI:C1332976 +is_a: DOID:6085 ! meningeal melanoma + +[Term] +id: DOID:609 +name: skin abnormality +is_obsolete: true + +[Term] +id: DOID:6090 +name: adult leptomeningeal melanoma +synonym: "melanoma of adult Leptomeninges" EXACT [NCI2004_11_17:C5319] +xref: NCI:C5319 +xref: UMLS_CUI:C1332204 +is_a: DOID:6085 ! meningeal melanoma + +[Term] +id: DOID:6091 +name: ampulla of vater intestinal type adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:6098 +name: thalamic neoplasm +alt_id: DOID:6096 +synonym: "malignant neoplasm of thalamus" EXACT [] +synonym: "malignant neoplasm of thalamus (disorder)" EXACT [SNOMEDCT_2005_07_31:188287005] +synonym: "malignant tumor of Thalamus" EXACT [NCI2004_11_17:C4576] +synonym: "tumor of Thalamus" EXACT [NCI2004_11_17:C6221] +xref: NCI:C4576 +xref: NCI:C6221 +xref: SNOMEDCT_US_2015_03_01:188287005 +xref: UMLS_CUI:C0346902 +xref: UMLS_CUI:C1336733 +is_a: DOID:3843 ! diencephalic neoplasm + +[Term] +id: DOID:61 +name: mitral valve disease +alt_id: DOID:11505 +alt_id: DOID:58 +alt_id: DOID:59 +synonym: "chronic rheumatic mitral valve (disorder)" EXACT [SNOMEDCT_2005_07_31:286947004] +synonym: "disease of mitral valve" EXACT [ICD9CM_2006:394] +synonym: "Mitral RH valve dis." EXACT [SNOMEDCT_2005_07_31:155276006, SNOMEDCT_2005_07_31:266278002] +synonym: "rheumatic disease of mitral valve" EXACT [] +synonym: "Rheumatic disease of mitral valve (disorder)" EXACT [SNOMEDCT_2005_07_31:83898004] +synonym: "Rheumatic mitral insufficiency" EXACT [ICD9CM_2006:394.1, SNOMEDCT_2005_07_31:155279004, SNOMEDCT_2005_07_31:266279005] +synonym: "Rheumatic mitral valve changes" EXACT [SNOMEDCT_2005_07_31:250998008] +synonym: "rheumatic mitral valve incompetence" EXACT [] +synonym: "Rheumatic mitral valve regurgitation" EXACT [MTHICD9_2006:394.1] +xref: ICD10CM:I05 +xref: ICD10CM:I05.1 +xref: ICD10CM:I05.9 +xref: ICD9CM:394 +xref: ICD9CM:394.1 +xref: ICD9CM:424.0 +xref: NCI:C78446 +xref: SNOMEDCT_US_2015_03_01:11851006 +xref: SNOMEDCT_US_2015_03_01:155276006 +xref: SNOMEDCT_US_2015_03_01:155278007 +xref: SNOMEDCT_US_2015_03_01:155279004 +xref: SNOMEDCT_US_2015_03_01:194724009 +xref: SNOMEDCT_US_2015_03_01:194729004 +xref: SNOMEDCT_US_2015_03_01:194982000 +xref: SNOMEDCT_US_2015_03_01:250998008 +xref: SNOMEDCT_US_2015_03_01:266278002 +xref: SNOMEDCT_US_2015_03_01:266279005 +xref: SNOMEDCT_US_2015_03_01:31085000 +xref: SNOMEDCT_US_2015_03_01:83898004 +xref: UMLS_CUI:C0026265 +xref: UMLS_CUI:C0155563 +xref: UMLS_CUI:C0264765 +is_a: DOID:4079 ! heart valve disease + +[Term] +id: DOID:6101 +name: signet ring cell variant cervical mucinous adenocarcinoma +xref: NCI:C40205 +xref: UMLS_CUI:C1516424 +is_a: DOID:3701 ! cervical mucinous adenocarcinoma + +[Term] +id: DOID:6102 +name: herpetic gastritis +def: "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus." [url:http\://www.ncbi.nlm.nih.gov/pubmed/1063088] +xref: NCI:C27341 +xref: UMLS_CUI:C1333996 +is_a: DOID:2327 ! viral gastritis + +[Term] +id: DOID:6103 +name: thoracic spinal canal and spinal cord meningioma +synonym: "meningioma of the Thoracic Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5297] +xref: NCI:C5297 +xref: UMLS_CUI:C1336738 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:6104 +name: mixed embryonal carcinoma and teratoma of the mediastinum +synonym: "Teratocarcinoma of mediastinum" EXACT [NCI2004_11_17:C6442] +is_obsolete: true + +[Term] +id: DOID:6105 +name: mediastinum malignant teratoma +synonym: "malignant mediastinal teratoma" EXACT [NCI2004_11_17:C4668] +synonym: "malignant teratoma of mediastinum (disorder)" EXACT [SNOMEDCT_2005_07_31:278042005] +is_obsolete: true + +[Term] +id: DOID:6107 +name: mediastinal mixed non-seminomatous germ cell tumor +synonym: "mixed Non-Seminomatous germ cell tumor of mediastinum" EXACT [NCI2004_11_17:C6444] +is_obsolete: true + +[Term] +id: DOID:6108 +name: mesenchymal hamartoma of the liver +synonym: "mesenchymal hamartoma of Liver" EXACT [NCI2004_11_17:C5751] +is_obsolete: true + +[Term] +id: DOID:6109 +name: hepatic and intrahepatic bile duct non-epithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:611 +name: leukocyte-adhesion deficiency syndrome +xref: MSH:D018370 +xref: UMLS_CUI:C0242597 +is_a: DOID:3262 ! phagocyte bactericidal dysfunction + +[Term] +id: DOID:6110 +name: jugular foramen meningioma +synonym: "meningioma of the Jugular Foramen" EXACT [NCI2004_11_17:C5293] +xref: NCI:C5293 +xref: UMLS_CUI:C1334298 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:6111 +name: jugular foramen neoplasm +synonym: "tumor of Jugular Foramen" EXACT [NCI2004_11_17:C5589] +is_obsolete: true + +[Term] +id: DOID:6112 +name: cerebral meningioma +synonym: "Cerebral meningioma (disorder)" EXACT [SNOMEDCT_2005_07_31:189164002] +synonym: "meningioma of Cerebrum" EXACT [NCI2004_11_17:C4807] +xref: NCI:C4807 +xref: SNOMEDCT_US_2015_03_01:189164002 +xref: UMLS_CUI:C0542564 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:6113 +name: intracerebral cystic meningioma +xref: NCI:C5269 +xref: UMLS_CUI:C1334236 +is_a: DOID:6112 ! cerebral meningioma + +[Term] +id: DOID:6114 +name: cerebral convexity meningioma +synonym: "Cerebral Hemispheric Convexity meningioma" EXACT [NCI2004_11_17:C4959] +xref: MSH:D008579 +xref: NCI:C4959 +xref: UMLS_CUI:C0751303 +is_a: DOID:6112 ! cerebral meningioma + +[Term] +id: DOID:6115 +name: lateral ventricle meningioma +synonym: "meningioma of the Lateral Ventricle" EXACT [NCI2004_11_17:C5302] +xref: NCI:C5302 +xref: UMLS_CUI:C1334380 +is_a: DOID:3772 ! intraventricular meningioma +is_a: DOID:6112 ! cerebral meningioma + +[Term] +id: DOID:6118 +name: renal pelvis inverted papilloma +synonym: "Inverted papilloma of the kidney Pelvis" EXACT [NCI2004_11_17:C6187] +xref: NCI:C6187 +xref: UMLS_CUI:C1335751 +is_a: DOID:6119 ! renal pelvis urothelial papilloma + +[Term] +id: DOID:6119 +name: renal pelvis urothelial papilloma +xref: NCI:C4528 +xref: UMLS_CUI:C1514844 +is_a: DOID:5975 ! renal pelvis papillary tumor + +[Term] +id: DOID:612 +name: primary immunodeficiency disease +def: "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "hypoimmunity" EXACT [CSP2005:1553-9570] +synonym: "immune deficiency disorder" EXACT [CSP2005:1560-5885] +synonym: "immunodeficiency syndrome" EXACT [NCI2004_11_17:C3131] +xref: ICD10CM:D84.9 +xref: ICD9CM:279.3 +xref: KEGG:05340 +xref: MSH:D007153 +xref: NCI:C3131 +xref: NCI:C39725 +xref: OMIM:242850 +xref: SNOMEDCT_US_2015_03_01:191005003 +xref: SNOMEDCT_US_2015_03_01:234532001 +xref: SNOMEDCT_US_2015_03_01:64431000 +xref: UMLS_CUI:C0021051 +is_a: DOID:2914 ! immune system disease + +[Term] +id: DOID:6122 +name: AIDS-related anal cancer +def: "An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS." [url:http\://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm] +is_obsolete: true + +[Term] +id: DOID:6126 +name: anal canal carcinoma +def: "An anal canal cancer that derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "anal canal and Perianal gland carcinoma" EXACT [NCI2004_11_17:C7489] +synonym: "carcinoma of anal canal" RELATED [] +synonym: "carcinoma of anal canal (disorder)" EXACT [SNOMEDCT_2005_07_31:285310000] +xref: MSH:C563020 +xref: NCI:C7489 +xref: OMIM:105580 +xref: SNOMEDCT_US_2015_03_01:285310000 +xref: UMLS_CUI:C0563211 +is_a: DOID:0050688 ! anal canal cancer + +[Term] +id: DOID:6128 +name: gliomatosis cerebri +synonym: "Astrocytosis cerebri" EXACT [NCI2004_11_17:C4318] +synonym: "Gliomatosis cerebri (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26138003] +xref: MSH:D018302 +xref: NCI:C4318 +xref: SNOMEDCT_US_2015_03_01:26138003 +xref: UMLS_CUI:C0334576 +is_a: DOID:1319 ! brain cancer + +[Term] +id: DOID:613 +name: T lymphocyte deficiency +synonym: "T-cell Immunodeficiency" EXACT [NCI2004_11_17:C27145] +synonym: "T-lymphocyte deficiency (finding)" EXACT [SNOMEDCT_2005_07_31:398055000] +synonym: "T-lymphocyte immunodeficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:402792003] +xref: NCI:C27145 +xref: SNOMEDCT_US_2015_03_01:402792003 +xref: UMLS_CUI:C1274233 +is_a: DOID:11200 ! T cell deficiency + +[Term] +id: DOID:6132 +name: bronchitis +alt_id: DOID:13503 +alt_id: DOID:13504 +alt_id: DOID:13707 +alt_id: DOID:13728 +alt_id: DOID:13729 +alt_id: DOID:5049 +alt_id: DOID:6130 +alt_id: DOID:6131 +alt_id: DOID:9982 +alt_id: DOID:9983 +def: "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness." [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html, url:http\://www.nlm.nih.gov/medlineplus/bronchitis.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis] +synonym: "acute Bronchitis" EXACT [NCI2004_11_17:C26932] +synonym: "acute bronchitis and bronchiolitis" RELATED [] +synonym: "chest cold" EXACT [] +synonym: "Chest infection NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266339003] +synonym: "chronic bronchitis" EXACT [] +synonym: "CI - Chest infection" EXACT [SNOMEDCT_2005_07_31:266340001] +synonym: "Infection of lower respiratory tract" EXACT [SNOMEDCT_2005_07_31:155626002] +synonym: "lower respiratory tract Infection" EXACT [NCI2004_11_17:C35158] +synonym: "recurrent wheezy bronchitis" EXACT [SNOMEDCT_2005_07_31:195936003] +xref: CSP:2596-1500 +xref: ICD10CM:J20 +xref: ICD10CM:J20.9 +xref: ICD10CM:J40 +xref: ICD10CM:J42 +xref: ICD9CM:466.0 +xref: ICD9CM:490 +xref: ICD9CM:491 +xref: ICD9CM:491.9 +xref: MSH:D001991 +xref: MSH:D029481 +xref: NCI:C26722 +xref: NCI:C26932 +xref: NCI:C2911 +xref: SNOMEDCT_US_2015_03_01:10509002 +xref: SNOMEDCT_US_2015_03_01:155512004 +xref: SNOMEDCT_US_2015_03_01:155515002 +xref: SNOMEDCT_US_2015_03_01:155566007 +xref: SNOMEDCT_US_2015_03_01:155572007 +xref: SNOMEDCT_US_2015_03_01:155616009 +xref: SNOMEDCT_US_2015_03_01:195713004 +xref: SNOMEDCT_US_2015_03_01:195733000 +xref: SNOMEDCT_US_2015_03_01:195936003 +xref: SNOMEDCT_US_2015_03_01:195940007 +xref: SNOMEDCT_US_2015_03_01:195956002 +xref: SNOMEDCT_US_2015_03_01:266354009 +xref: SNOMEDCT_US_2015_03_01:266380005 +xref: SNOMEDCT_US_2015_03_01:266395007 +xref: SNOMEDCT_US_2015_03_01:32398004 +xref: SNOMEDCT_US_2015_03_01:35301006 +xref: SNOMEDCT_US_2015_03_01:63480004 +xref: UMLS_CUI:C0006277 +xref: UMLS_CUI:C0008677 +xref: UMLS_CUI:C0149514 +is_a: DOID:1176 ! bronchial disease + +[Term] +id: DOID:6139 +name: uterine corpus epithelioid leiomyosarcoma +xref: NCI:C40174 +xref: UMLS_CUI:C1519851 +is_a: DOID:5289 ! uterus leiomyosarcoma + +[Term] +id: DOID:614 +name: lymphopenia +def: "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood." [url:http\://en.wikipedia.org/wiki/Lymphopenia] +synonym: "Lymphocytopenia" EXACT [MTHICD9_2006:288.8] +xref: ICD10CM:D72.810 +xref: ICD9CM:288.51 +xref: MSH:D008231 +xref: SNOMEDCT_US_2015_03_01:48813009 +xref: UMLS_CUI:C0024312 +is_a: DOID:615 ! leukopenia + +[Term] +id: DOID:6148 +name: nasal cavity carcinoma in situ +synonym: "carcinoma in situ of nasal cavities" EXACT [MTHICD9_2006:231.8] +synonym: "carcinoma in situ of nasal cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:92663007] +synonym: "stage 0 carcinoma of the nasal cavity" EXACT [NCI2004_11_17:C4589] +xref: ICD10CM:D02.3 +xref: NCI:C4589 +xref: SNOMEDCT_US_2015_03_01:92663007 +xref: UMLS_CUI:C0347095 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:615 +name: leukopenia +def: "A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection." [url:http\://en.wikipedia.org/wiki/Leukopenia] +synonym: "Leucopenia" EXACT [SNOMEDCT_2005_07_31:191348003] +xref: ICD10CM:D72.819 +xref: ICD9CM:288.50 +xref: MSH:D007970 +xref: SNOMEDCT_US_2015_03_01:142917003 +xref: SNOMEDCT_US_2015_03_01:191348003 +xref: SNOMEDCT_US_2015_03_01:84828003 +xref: UMLS_CUI:C0023530 +is_a: DOID:9500 ! leukocyte disease + +[Term] +id: DOID:616 +name: Deltaretrovirus infectious disease +def: "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact." [url:http\://www.expasy.org/viralzone/all_by_species/91.html] +is_obsolete: true + +[Term] +id: DOID:6160 +name: childhood choriocarcinoma of the testis +synonym: "pediatric testicular Choriocarcinoma" EXACT [NCI2004_11_17:C6544] +xref: NCI:C6544 +xref: UMLS_CUI:C1333006 +is_a: DOID:5551 ! choriocarcinoma of the testis + +[Term] +id: DOID:6161 +name: childhood testicular mixed germ cell tumor +synonym: "pediatric testicular mixed germ cell tumor" EXACT [NCI2004_11_17:C6542] +xref: NCI:C6542 +xref: UMLS_CUI:C1333009 +is_a: DOID:4743 ! mixed testicular germ cell tumor + +[Term] +id: DOID:6162 +name: childhood embryonal testis carcinoma +def: "An embryonal testis carcinoma that occurs in children." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] +synonym: "childhood embryonal carcinoma of the testis" RELATED [] +synonym: "pediatric testicular Embryonal carcinoma" EXACT [NCI2004_11_17:C6545] +xref: NCI:C6545 +xref: UMLS_CUI:C1333007 +is_a: DOID:5680 ! embryonal testis carcinoma + +[Term] +id: DOID:6163 +name: familial renal papillary carcinoma +synonym: "Hereditary Papillary renal carcinoma" EXACT [NCI2004_11_17:C9222] +xref: NCI:C9222 +xref: UMLS_CUI:C0879257 +is_a: DOID:4455 ! hereditary renal cell carcinoma + +[Term] +id: DOID:6166 +name: prostatic urethra urothelial carcinoma +xref: NCI:C39900 +xref: UMLS_CUI:C1514522 +is_a: DOID:6167 ! prostatic urethral cancer + +[Term] +id: DOID:6167 +name: prostatic urethral cancer +xref: NCI:C39870 +xref: UMLS_CUI:C1514523 +is_a: DOID:736 ! male urethral cancer + +[Term] +id: DOID:617 +name: Retroviridae infectious disease +def: "A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses." [url:http\://en.wikipedia.org/wiki/Retroviridae] +synonym: "disease due to Retroviridae (disorder)" EXACT [SNOMEDCT_2005_07_31:105635000] +synonym: "Retroviridae disease" EXACT [CSP2005:3100-1695] +is_obsolete: true + +[Term] +id: DOID:6170 +name: ovarian carcinosarcoma +synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [] +synonym: "ovarian malignant mixed Mullerian tumor" EXACT [] +synonym: "Ovarian MMMT" EXACT [NCI2004_11_17:C9192] +xref: NCI:C9192 +xref: SNOMEDCT_US_2015_03_01:702368000 +xref: UMLS_CUI:C0392998 +is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm + +[Term] +id: DOID:6171 +name: uterine carcinosarcoma +def: "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." [url:http\://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma, url:http\://en.wikipedia.org/wiki/Carcinosarcoma] +subset: DO_cancer_slim +synonym: "mixed mullerian sarcoma of uterus" EXACT [NCI2004_11_17:C9180] +xref: NCI:C42700 +xref: SNOMEDCT_US_2015_03_01:702369008 +xref: UMLS_CUI:C0280630 +is_a: DOID:4114 ! uterine body mixed cancer + +[Term] +id: DOID:6174 +name: sporadic conventional renal cell carcinoma +is_obsolete: true + +[Term] +id: DOID:6175 +name: mediastinal neurilemmoma +synonym: "Schwannoma of mediastinum" EXACT [NCI2004_11_17:C6643] +xref: NCI:C6643 +xref: UMLS_CUI:C1334679 +is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm +is_a: DOID:956 ! peripheral nerve schwannoma + +[Term] +id: DOID:6178 +name: metastatic ovarian small cell carcinoma with hypercalcemia +is_obsolete: true + +[Term] +id: DOID:6179 +name: ovarian small cell carcinoma +xref: NCI2009_04D:C27390 +is_a: DOID:4001 ! ovarian carcinoma + +[Term] +id: DOID:6180 +name: Cytomegalovirus gastritis +def: "A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh] +synonym: "CMV Gastritis" EXACT [] +synonym: "CMV-Related Gastritis" EXACT [NCI2004_11_17:C27217] +is_obsolete: true + +[Term] +id: DOID:6184 +name: squamous cell carcinoma of unknown primary +is_obsolete: true + +[Term] +id: DOID:619 +name: lymphoproliferative disease +synonym: "Duncan's syndrome" EXACT [SNOMEDCT_2005_07_31:77121009] +is_obsolete: true + +[Term] +id: DOID:6190 +name: rectum Kaposi's sarcoma +def: "A sarcoma of the rectum that results_in lesions that are located_in the rectum." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] +synonym: "Kaposi's sarcoma of rectum" EXACT [NCI2004_11_17:C5550] +synonym: "rectum Kaposi sarcoma" EXACT [] +xref: NCI:C5550 +xref: UMLS_CUI:C1335681 +is_a: DOID:1995 ! rectum sarcoma + +[Term] +id: DOID:6192 +name: inflammatory MFH +synonym: "Xanthosarcoma" EXACT [NCI2004_11_17:C6497] +xref: NCI:C6497 +xref: UMLS_CUI:C1334180 +is_a: DOID:1907 ! malignant fibroxanthoma + +[Term] +id: DOID:6193 +name: epithelioid sarcoma +synonym: "epithelioid cell sarcoma" EXACT [NCI2004_11_17:C3714] +synonym: "epithelioid sarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:59238007] +xref: MSH:D012509 +xref: NCI:C3714 +xref: SNOMEDCT_US_2015_03_01:59238007 +xref: UMLS_CUI:C0205944 +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:6195 +name: conjunctivitis +def: "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids." [url:http\://en.wikipedia.org/wiki/Conjunctivitis, url:http\://www.merck.com/mmhe/sec20/ch229/ch229b.html#sec20-ch229-ch229b-216] +synonym: "Madras eye" RELATED [] +synonym: "pink eye" RELATED [] +xref: ICD10CM:H10 +xref: ICD10CM:H10.9 +xref: ICD9CM:372.30 +xref: MSH:D003231 +xref: NCI:C34504 +xref: SNOMEDCT_US_2015_03_01:193857008 +xref: SNOMEDCT_US_2015_03_01:193858003 +xref: SNOMEDCT_US_2015_03_01:193875009 +xref: SNOMEDCT_US_2015_03_01:9826008 +xref: UMLS_CUI:C0009763 +is_a: DOID:4251 ! conjunctival disease + +[Term] +id: DOID:6196 +name: reactive arthritis +alt_id: DOID:10148 +alt_id: DOID:11891 +alt_id: DOID:13318 +alt_id: DOID:13519 +alt_id: DOID:13782 +alt_id: DOID:13783 +alt_id: DOID:13784 +alt_id: DOID:13785 +alt_id: DOID:6194 +alt_id: DOID:9760 +def: "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." [url:http\://emedicine.medscape.com/article/331347-overview, url:http\://en.wikipedia.org/wiki/Reactive_arthritis, url:http\://www.about-reactive-arthritis.com/, url:http\://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000440.htm] +synonym: "Fiessinger Leroy Reiter syndrome" EXACT [CSP2005:0944-8011] +synonym: "Post-bacterial arthropathy" EXACT [SNOMEDCT_2005_07_31:129133005] +synonym: "postdysenteric arthropathy" EXACT [] +synonym: "Reactive arthritis" EXACT [SNOMEDCT_2005_07_31:201736002] +synonym: "Reiter disease" EXACT [] +synonym: "Reiter's disease" EXACT [ICD9CM_2006:099.3, SNOMEDCT_2005_07_31:154390002] +xref: ICD10CM:M02.1 +xref: ICD10CM:M02.10 +xref: ICD10CM:M02.3 +xref: ICD10CM:M02.30 +xref: ICD9CM:099.3 +xref: ICD9CM:711.3 +xref: ICD9CM:711.30 +xref: MSH:D016918 +xref: NCI:C34975 +xref: SNOMEDCT_US_2015_03_01:154389006 +xref: SNOMEDCT_US_2015_03_01:154390002 +xref: SNOMEDCT_US_2015_03_01:201496000 +xref: SNOMEDCT_US_2015_03_01:201506009 +xref: SNOMEDCT_US_2015_03_01:266212009 +xref: SNOMEDCT_US_2015_03_01:56528004 +xref: SNOMEDCT_US_2015_03_01:67224007 +xref: UMLS_CUI:C0035012 +xref: UMLS_CUI:C0152085 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:6197 +name: conventional malignant hemangiopericytoma +xref: NCI:C9425 +xref: UMLS_CUI:C1333158 +is_a: DOID:264 ! hemangiopericytoma + +[Term] +id: DOID:6198 +name: corneal intraepithelial neoplasm +xref: NCI:C6093 +xref: SNOMEDCT_US_2015_03_01:420835009 +xref: UMLS_CUI:C1333159 +is_a: DOID:0060071 ! pre-malignant neoplasm + +[Term] +id: DOID:6199 +name: cornea cancer +alt_id: DOID:12757 +synonym: "Corneal tumor" EXACT [NCI2004_11_17:C4361] +synonym: "malignant Corneal tumor" EXACT [NCI2004_11_17:C3565] +synonym: "malignant neoplasm of cornea" EXACT [] +synonym: "malignant neoplasm of cornea (primary)" EXACT [SNOMEDCT_2005_07_31:93766000] +synonym: "malignant tumor of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:363464006] +synonym: "neoplasm of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:126997008] +xref: ICD10CM:C69.1 +xref: ICD9CM:190.4 +xref: NCI:C3565 +xref: NCI:C4361 +xref: SNOMEDCT_US_2015_03_01:126997008 +xref: SNOMEDCT_US_2015_03_01:363464006 +xref: SNOMEDCT_US_2015_03_01:93766000 +xref: UMLS_CUI:C0153629 +xref: UMLS_CUI:C0339304 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:62 +name: aortic valve disease +alt_id: DOID:56 +comment: Updating out dated UMLS CUI. +xref: ICD9CM:395 +xref: ICD9CM:424.1 +xref: MSH:C563178 +xref: NCI:C78650 +xref: SNOMEDCT_US_2015_03_01:194988001 +xref: SNOMEDCT_US_2015_03_01:8722008 +xref: UMLS_CUI:C1260873 +is_a: DOID:4079 ! heart valve disease + +[Term] +id: DOID:620 +name: blood protein disease +synonym: "blood protein disorder" EXACT [CSP2005:0449-0541] +xref: MSH:D001796 +xref: UMLS_CUI:C0005830 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:6200 +name: recurrent malignant pericardial mesothelioma +is_obsolete: true + +[Term] +id: DOID:6201 +name: pericardial mesothelioma +alt_id: DOID:5883 +alt_id: DOID:7433 +synonym: "malignant mesothelioma of pericardium" EXACT [SNOMEDCT_2005_07_31:187885008] +synonym: "malignant Pericardial Mesothelioma" EXACT [NCI2004_11_17:C7631] +xref: ICD10CM:C45.2 +xref: NCI:C7631 +xref: NCI:C7632 +xref: NCI:C8703 +xref: SNOMEDCT_US_2015_03_01:109383000 +xref: SNOMEDCT_US_2015_03_01:187885008 +xref: UMLS_CUI:C0346110 +xref: UMLS_CUI:C0854883 +xref: UMLS_CUI:C1335381 +is_a: DOID:116 ! pericardium cancer + +[Term] +id: DOID:6202 +name: mesothelioma malignant recurrent +synonym: "relapsed malignant Mesothelioma" EXACT [NCI2004_11_17:C7866] +is_obsolete: true + +[Term] +id: DOID:6203 +name: thyroid hyalinizing trabecular adenoma +synonym: "PLAT" EXACT [NCI2004_11_17:C6846] +xref: NCI:C6846 +xref: UMLS_CUI:C1336751 +is_a: DOID:6204 ! follicular adenoma + +[Term] +id: DOID:6204 +name: follicular adenoma +synonym: "Follicular adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:55021007] +synonym: "Follicular adenoma of the Thyroid gland" EXACT [NCI2004_11_17:C3684] +synonym: "Thyroid follicular adenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255034006] +xref: MSH:D000236 +xref: SNOMEDCT_US_2015_03_01:55021007 +xref: UMLS_CUI:C0205647 +is_a: DOID:2891 ! thyroid adenoma + +[Term] +id: DOID:6208 +name: mediastinal osteogenic sarcoma +synonym: "Osteosarcoma of mediastinum" EXACT [NCI2004_11_17:C6615] +xref: NCI:C6615 +xref: UMLS_CUI:C1334675 +is_a: DOID:3357 ! extraosseous osteosarcoma +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:6209 +name: malignant mediastinum hemangiopericytoma +def: "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum." [url:http\://wjso.com/content/4/1/23] +synonym: "malignant hemangiopericytoma of mediastinum" EXACT [NCI2004_11_17:C6608] +xref: NCI:C6608 +xref: UMLS_CUI:C1334598 +is_a: DOID:264 ! hemangiopericytoma +is_a: DOID:4050 ! mediastinum sarcoma + +[Term] +id: DOID:621 +name: simian acquired immunodeficiency syndrome +def: "A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells." [url:http\://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf] +synonym: "SAIDS" EXACT [CSP2005:1560-6306] +synonym: "simian lymphoproliferative syndrome" EXACT [CSP2005:3131-3700] +is_obsolete: true + +[Term] +id: DOID:6210 +name: bladder diffuse clear cell adenocarcinoma +xref: NCI:C39849 +xref: UMLS_CUI:C1511187 +is_a: DOID:5306 ! bladder clear cell adenocarcinoma + +[Term] +id: DOID:6211 +name: mixed epithelial tumor of ovary +synonym: "mixed epithelial tumor of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254855000] +synonym: "Ovarian mixed epithelial tumor" EXACT [NCI2004_11_17:C4508] +xref: NCI:C4508 +xref: SNOMEDCT_US_2015_03_01:254855000 +xref: UMLS_CUI:C0346166 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:6212 +name: ovarian endometrial cancer +alt_id: DOID:4116 +def: "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Endometrial_cancer] +subset: DO_cancer_slim +synonym: "endometrioid neoplasm of Ovary" EXACT [NCI2004_11_17:C6257] +synonym: "malignant ovarian endometrioid tumor" EXACT [] +synonym: "ovarian endometrioid neoplasm" EXACT [] +xref: NCI:C40051 +xref: NCI:C6257 +xref: UMLS_CUI:C1335159 +xref: UMLS_CUI:C1518231 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:6213 +name: ovarian serous tumor +synonym: "Ovarian serous tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253024004] +synonym: "Ovarian serous tumour" EXACT [SNOMEDCT_2005_07_31:189683008] +synonym: "serous tumor of Ovary" EXACT [NCI2004_11_17:C8431] +is_obsolete: true + +[Term] +id: DOID:6214 +name: ovarian papillary neoplasm +synonym: "Ovarian papillary tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253023005] +synonym: "Ovarian papillary tumour" EXACT [SNOMEDCT_2005_07_31:189683008] +synonym: "Papillary tumor of Ovary" EXACT [NCI2004_11_17:C8430] +xref: NCI:C8430 +xref: SNOMEDCT_US_2015_03_01:189683008 +xref: SNOMEDCT_US_2015_03_01:253023005 +xref: UMLS_CUI:C0476121 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:6217 +name: gastric diffuse adenocarcinoma +alt_id: DOID:4946 +synonym: "adenocarcinoma of Linitis Plastica type" EXACT [NCI2004_11_17:C9159] +synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24505004] +synonym: "Diffuse type adenocarcinoma" EXACT [NCI2004_11_17:C4127] +synonym: "diffuse type carcinoma" EXACT [] +xref: NCI:C4127 +xref: NCI:C9159 +xref: SNOMEDCT_US_2015_03_01:24505004 +xref: UMLS_CUI:C0279635 +xref: UMLS_CUI:C0334280 +is_a: DOID:3717 ! gastric adenocarcinoma + +[Term] +id: DOID:622 +name: Lentivirus infectious disease +def: "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound." [url:http\://www.expasy.ch/viralzone/all_by_species/264.html] +synonym: "Lentivirus disease" EXACT [CSP2005:3100-1695] +is_obsolete: true + +[Term] +id: DOID:6225 +name: Cronkhite-Canada syndrome +synonym: "gastric Cronkhite Canada polyposis" EXACT [] +xref: NCI:C7035 +xref: UMLS_CUI:C1333764 +is_a: DOID:76 ! stomach disease + +[Term] +id: DOID:6227 +name: articular cartilage disease +alt_id: DOID:6226 +alt_id: DOID:9366 +alt_id: DOID:9871 +alt_id: DOID:9872 +alt_id: DOID:9873 +alt_id: DOID:9874 +alt_id: DOID:9875 +synonym: "Articular cartilage disorder involving ankle and foot" EXACT [ICD9CM_2006:718.07] +synonym: "Articular cartilage disorder involving forearm" EXACT [ICD9CM_2006:718.03] +synonym: "Articular cartilage disorder involving hand" EXACT [ICD9CM_2006:718.04] +synonym: "Articular cartilage disorder involving multiple sites" EXACT [ICD9CM_2006:718.09] +synonym: "Articular cartilage disorder involving pelvic region and thigh" EXACT [ICD9CM_2006:718.05] +synonym: "Articular cartilage disorder involving shoulder region" EXACT [ICD9CM_2006:718.01] +synonym: "Articular cartilage disorder involving upper arm" EXACT [ICD9CM_2006:718.02] +synonym: "articular cartilage disorder of ankle and/or foot" EXACT [] +synonym: "Articular cartilage disorder of ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:84970007] +synonym: "Articular cartilage disorder of forearm" EXACT [] +synonym: "Articular cartilage disorder of forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:936009] +synonym: "Articular cartilage disorder of hand" EXACT [] +synonym: "Articular cartilage disorder of hand (disorder)" EXACT [SNOMEDCT_2005_07_31:90068007] +synonym: "Articular cartilage disorder of multiple sites" EXACT [] +synonym: "Articular cartilage disorder of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:84097002] +synonym: "Articular cartilage disorder of shoulder region" EXACT [] +synonym: "Articular cartilage disorder of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:16547002] +synonym: "Articular cartilage disorder of the ankle and foot (disorder)" EXACT [SNOMEDCT_2005_07_31:202138005] +synonym: "Articular cartilage disorder of the forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:202135008] +synonym: "Articular cartilage disorder of the hand (disorder)" EXACT [SNOMEDCT_2005_07_31:202136009] +synonym: "Articular cartilage disorder of the pelvic region and thigh" EXACT [] +synonym: "Articular cartilage disorder of the pelvic region and thigh (disorder)" EXACT [SNOMEDCT_2005_07_31:202137000] +synonym: "Articular cartilage disorder of the shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:202133001] +synonym: "Articular cartilage disorder of the upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:202134007] +synonym: "Articular cartilage disorder of upper arm" EXACT [] +synonym: "Articular cartilage disorder of upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:9051008] +xref: ICD9CM:718.0 +xref: ICD9CM:718.00 +xref: SNOMEDCT_US_2015_03_01:156523007 +xref: SNOMEDCT_US_2015_03_01:202132006 +xref: SNOMEDCT_US_2015_03_01:202145005 +xref: SNOMEDCT_US_2015_03_01:268062001 +xref: SNOMEDCT_US_2015_03_01:287014004 +xref: SNOMEDCT_US_2015_03_01:53417006 +xref: UMLS_CUI:C0158073 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:6228 +name: peritoneal serous papillary adenocarcinoma +synonym: "primary serous papillary carcinoma of peritoneum" EXACT [SNOMEDCT_2005_07_31:15674004] +xref: NCI:C7695 +xref: SNOMEDCT_US_2015_03_01:15674004 +xref: UMLS_CUI:C1368918 +is_a: DOID:4901 ! peritoneal serous adenocarcinoma + +[Term] +id: DOID:6229 +name: childhood mature teratoma of the ovary +synonym: "pediatric Mature teratoma of Ovary" EXACT [NCI2004_11_17:C6548] +xref: NCI:C6548 +xref: UMLS_CUI:C1332991 +is_a: DOID:6231 ! mature teratoma of the ovary + +[Term] +id: DOID:6230 +name: childhood teratoma of the ovary +synonym: "pediatric teratoma of Ovary" EXACT [NCI2004_11_17:C6554] +xref: NCI:C6554 +xref: UMLS_CUI:C1332992 +is_a: DOID:5567 ! ovarian germ cell teratoma + +[Term] +id: DOID:6231 +name: mature teratoma of the ovary +synonym: "Mature teratoma of Ovary" EXACT [NCI2004_11_17:C8112] +xref: NCI:C8112 +xref: UMLS_CUI:C1334637 +is_a: DOID:5566 ! mature teratoma +is_a: DOID:6232 ! ovarian biphasic or triphasic teratoma + +[Term] +id: DOID:6232 +name: ovarian biphasic or triphasic teratoma +xref: NCI:C39992 +xref: UMLS_CUI:C1518691 +is_a: DOID:5567 ! ovarian germ cell teratoma + +[Term] +id: DOID:6239 +name: non-invasive bladder papillary urothelial neoplasm +alt_id: DOID:6238 +synonym: "bladder papillary neoplasm of low malignant potential" EXACT [] +synonym: "bladder PUNLMP" EXACT [NCI2004_11_17:C27884] +synonym: "Papillary urothelial neoplasm of low malignant potential" EXACT [SNOMEDCT_2005_07_31:128625004] +xref: NCI:C27884 +xref: NCI:C39831 +xref: SNOMEDCT_US_2015_03_01:128625004 +xref: UMLS_CUI:C1266010 +xref: UMLS_CUI:C1518358 +is_a: DOID:5432 ! bladder papillary transitional cell neoplasm + +[Term] +id: DOID:624 +name: transient hypogammaglobulinemia of infancy +synonym: "Transient Hypogammaglobulinemia of Infancy" EXACT [NCI2004_11_17:C27071] +synonym: "Transient hypogammaglobulinemia of infancy (disorder)" EXACT [SNOMEDCT_2005_07_31:88714009] +xref: ICD10CM:D80.7 +xref: NCI:C27071 +xref: SNOMEDCT_US_2015_03_01:88714009 +xref: UMLS_CUI:C0272238 +is_a: DOID:625 ! transient hypogammaglobulinemia + +[Term] +id: DOID:6240 +name: transitional cell intraepithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:6244 +name: familial renal oncocytoma +xref: NCI:C8960 +xref: UMLS_CUI:C0879606 +is_a: DOID:6245 ! renal oncocytoma + +[Term] +id: DOID:6245 +name: renal oncocytoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Oncocytoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254922006] +synonym: "renal epithelial Oncocytic tumor" EXACT [NCI2004_11_17:C4526] +xref: MSH:C537750 +xref: NCI:C4526 +xref: OMIM:553000 +xref: SNOMEDCT_US_2015_03_01:254922006 +xref: UMLS_CUI:C0346255 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:6246 +name: oncocytic neoplasm +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Oncocytic tumor" EXACT [NCI2004_11_17:C7072] +is_obsolete: true + +[Term] +id: DOID:6249 +name: mediastinum seminoma +synonym: "Seminoma of mediastinum" EXACT [NCI2004_11_17:C6812] +xref: NCI:C6812 +xref: UMLS_CUI:C1334680 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:625 +name: transient hypogammaglobulinemia +xref: NCI:C27319 +xref: UMLS_CUI:C0859960 +is_a: DOID:2583 ! agammaglobulinemia + +[Term] +id: DOID:6250 +name: Epstein-Barr virus related carcinoma +def: "An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects." [url:http\://www.diagnosticpathology.org/content/2/1/25] +synonym: "EBV Related carcinoma" EXACT [NCI2004_11_17:C27690] +is_obsolete: true + +[Term] +id: DOID:6255 +name: growth hormone secreting pituitary adenoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Growth Hormone Producing adenoma of the Pituitary" EXACT [NCI2004_11_17:C7461] +synonym: "growth hormone secreting adenoma of pituitary" EXACT [] +synonym: "Somatotroph adenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254957009] +xref: MSH:D049912 +xref: NCI:C7461 +xref: OMIM:102200 +xref: SNOMEDCT_US_2015_03_01:254957009 +xref: UMLS_CUI:C0346302 +is_a: DOID:5395 ! functioning pituitary adenoma + +[Term] +id: DOID:6256 +name: malignant growth hormone secreting neoplasm of pituitary +synonym: "malignant Somatotropinoma" EXACT [NCI2004_11_17:C5963] +xref: NCI:C5963 +xref: UMLS_CUI:C1334587 +is_a: DOID:5716 ! hormone producing pituitary cancer + +[Term] +id: DOID:6257 +name: chromophil adenoma of the kidney +synonym: "Papillary adenoma of the kidney" EXACT [NCI2004_11_17:C3687] +xref: NCI:C3687 +xref: UMLS_CUI:C1518879 +is_a: DOID:2697 ! renal adenoma + +[Term] +id: DOID:6258 +name: type 1 papillary adenoma of the kidney +xref: NCI:C39809 +xref: UMLS_CUI:C1519706 +is_a: DOID:6257 ! chromophil adenoma of the kidney + +[Term] +id: DOID:6259 +name: type 2 papillary adenoma of the kidney +xref: NCI:C39810 +xref: UMLS_CUI:C1519710 +is_a: DOID:6257 ! chromophil adenoma of the kidney + +[Term] +id: DOID:626 +name: complement deficiency +def: "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation." [url:http\://en.wikipedia.org/wiki/Complement_deficiency, url:http\://www.primaryimmune.org/publications/book_pats/e_ch01.pdf] +synonym: "Complement deficiency" EXACT [SNOMEDCT_2005_07_31:191014008] +synonym: "Complement deficiency" EXACT [NCI2004_11_17:C4691] +synonym: "Complement deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:24743004] +xref: ICD10CM:D80-D89 +xref: ICD10CM:D84.1 +xref: NCI:C4691 +xref: SNOMEDCT_US_2015_03_01:191014008 +xref: SNOMEDCT_US_2015_03_01:24743004 +xref: UMLS_CUI:C0272242 +is_a: DOID:612 ! primary immunodeficiency disease + +[Term] +id: DOID:6262 +name: follicular dendritic cell sarcoma +def: "A dendritic cell sarcoma cancer that effects the follicular dendritic cells." [url:http\://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma] +synonym: "Follicular Dendritic cell sarcoma" EXACT [NCI2004_11_17:C9281] +synonym: "Follicular dendritic cell tumour" EXACT [SNOMEDCT_2005_07_31:128816008] +xref: ICD10CM:C96.4 +xref: MSH:D054740 +xref: NCI:C9281 +xref: SNOMEDCT_US_2015_03_01:128816008 +xref: UMLS_CUI:C1260325 +is_a: DOID:7849 ! dendritic cell sarcoma + +[Term] +id: DOID:6263 +name: inflammatory breast carcinoma +synonym: "Inflammatory carcinoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254840009] +synonym: "Mastitis carcinomatosa" EXACT [NCI2004_11_17:C4001] +xref: MSH:D058922 +xref: NCI:C4001 +xref: SNOMEDCT_US_2015_03_01:254840009 +xref: UMLS_CUI:C0278601 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:6268 +name: recurrent extraskeletal chondrosarcoma +synonym: "relapsed extraskeletal chondrosarcoma" EXACT [NCI2004_11_17:C8807] +is_obsolete: true + +[Term] +id: DOID:627 +name: severe combined immunodeficiency +def: "A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems." [url:http\://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, url:http\://www.scid.net/] +synonym: "combined T and B cell inborn immunodeficiency" EXACT [CSP2005:1560-6660] +synonym: "SCID" EXACT [NCI2004_11_17:C3472] +synonym: "SCID" EXACT [MTHICD9_2006:279.2] +synonym: "Severe combined immunodeficiency" EXACT [SNOMEDCT_2005_07_31:190994004] +synonym: "Severe combined immunodeficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:31323000] +xref: MSH:D016511 +xref: NCI:C3472 +xref: SNOMEDCT_US_2015_03_01:190994004 +xref: SNOMEDCT_US_2015_03_01:31323000 +xref: UMLS_CUI:C0085110 +is_a: DOID:628 ! combined T cell and B cell immunodeficiency + +[Term] +id: DOID:6270 +name: gastric cardia carcinoma +synonym: "carcinoma of Cardia of stomach" EXACT [NCI2004_11_17:C6794] +xref: NCI:C6794 +xref: UMLS_CUI:C1333763 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:6271 +name: gastric cardia adenocarcinoma +synonym: "adenocarcinoma of Cardia of stomach" EXACT [NCI2004_11_17:C5247] +synonym: "adenocarcinoma of gastric cardia" RELATED [] +xref: NCI:C5247 +xref: UMLS_CUI:C1333762 +is_a: DOID:3717 ! gastric adenocarcinoma +is_a: DOID:6270 ! gastric cardia carcinoma + +[Term] +id: DOID:6273 +name: metastasis to pituitary gland +is_obsolete: true + +[Term] +id: DOID:6274 +name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland +synonym: "malignant Thyrotropinoma" EXACT [NCI2004_11_17:C5965] +xref: NCI:C5965 +xref: UMLS_CUI:C1334627 +is_a: DOID:5716 ! hormone producing pituitary cancer + +[Term] +id: DOID:6275 +name: TSH producing pituitary tumor +synonym: "Thyrotroph adenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:254959007] +synonym: "TSH Secreting adenoma of the Pituitary" EXACT [NCI2004_11_17:C8011] +synonym: "TSH Secreting tumor of Pituitary" EXACT [NCI2004_11_17:C7915] +xref: NCI:C8011 +xref: SNOMEDCT_US_2015_03_01:254959007 +xref: UMLS_CUI:C0346303 +is_a: DOID:5395 ! functioning pituitary adenoma + +[Term] +id: DOID:6276 +name: malignant ACTH producing neoplasm of pituitary gland +synonym: "malignant Corticotropinoma of the Pituitary" EXACT [NCI2004_11_17:C5964] +xref: NCI:C5964 +xref: UMLS_CUI:C1334556 +is_a: DOID:5716 ! hormone producing pituitary cancer + +[Term] +id: DOID:6277 +name: ACTH-producing pituitary tumor +synonym: "Pituitary Corticotropin Secreting tumor" EXACT [NCI2004_11_17:C7909] +is_obsolete: true + +[Term] +id: DOID:6278 +name: ovarian mucinous malignant adenofibroma +xref: NCI2009_04D:C40034 +is_a: DOID:4422 ! malignant adenofibroma +is_a: DOID:6067 ! ovarian mucinous neoplasm + +[Term] +id: DOID:628 +name: combined T cell and B cell immunodeficiency +def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity." [url:http\://en.wikipedia.org/wiki/Combined_immunodeficiencies, url:http\://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "combined immunodeficiency" EXACT [] +synonym: "Congenital Combined Immunodeficiency" EXACT [NCI2004_11_17:C27871] +synonym: "X-linked combined immunodeficiency" EXACT [] +xref: ICD10CM:D81 +xref: ICD10CM:D81.9 +xref: ICD9CM:279.2 +xref: NCI:C27871 +xref: OMIM:312863 +xref: ORDO:101972 +xref: SNOMEDCT_US_2015_03_01:191003005 +xref: UMLS_CUI:C0494261 +is_a: DOID:612 ! primary immunodeficiency disease + +[Term] +id: DOID:6284 +name: epicardium lipoma +synonym: "Lipoma of Epicardium" EXACT [NCI2004_11_17:C6742] +xref: NCI:C6742 +xref: UMLS_CUI:C1333411 +is_a: DOID:6285 ! heart lipoma + +[Term] +id: DOID:6285 +name: heart lipoma +synonym: "Lipoma of Heart" EXACT [NCI2004_11_17:C6741] +xref: NCI:C6741 +xref: UMLS_CUI:C1332849 +is_a: DOID:0060091 ! cardiovascular organ benign neoplasm + +[Term] +id: DOID:6286 +name: childhood cerebellar astrocytic neoplasm +synonym: "pediatric astrocytoma of Cerebellum" EXACT [NCI2004_11_17:C6286] +xref: NCI:C6286 +xref: UMLS_CUI:C0278594 +is_a: DOID:4848 ! cerebellar astrocytoma + +[Term] +id: DOID:6287 +name: recurrent pediatric cerebellar astrocytoma +synonym: "relapsed pediatric astrocytoma of Cerebellum" EXACT [NCI2004_11_17:C8389] +is_obsolete: true + +[Term] +id: DOID:6288 +name: recurrent childhood brain tumor +synonym: "relapsed tumor of pediatric brain" EXACT [NCI2004_11_17:C7834] +is_obsolete: true + +[Term] +id: DOID:629 +name: congenital disorder of natural immunity +is_obsolete: true + +[Term] +id: DOID:6291 +name: cerebral hemisphere lipoma +synonym: "Lipoma of the Cerebral Hemisphere" EXACT [NCI2004_11_17:C6220] +xref: NCI:C6220 +xref: UMLS_CUI:C1332907 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:6292 +name: intracranial lipoma +is_obsolete: true + +[Term] +id: DOID:6293 +name: central nervous system lipoma +synonym: "Lipoma of the CNS" EXACT [NCI2004_11_17:C5451] +xref: NCI:C5451 +xref: UMLS_CUI:C1332885 +is_a: DOID:0060090 ! central nervous system organ benign neoplasm + +[Term] +id: DOID:6294 +name: corpus callosum lipoma +synonym: "Lipoma of the Corpus Callosum" EXACT [NCI2004_11_17:C5438] +xref: NCI:C5438 +xref: UMLS_CUI:C1333160 +is_a: DOID:6291 ! cerebral hemisphere lipoma + +[Term] +id: DOID:6296 +name: Herpes simplex virus esophagitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000646.htm] +synonym: "herpes simplex esophagitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:6297 +name: viral esophagitis +synonym: "Viral Esophagitis" EXACT [NCI2004_11_17:C27108] +synonym: "Viral esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235603003] +xref: NCI:C27108 +xref: SNOMEDCT_US_2015_03_01:235603003 +xref: UMLS_CUI:C0341110 +is_a: DOID:11963 ! esophagitis + +[Term] +id: DOID:630 +name: genetic disease +def: "A disease that has_material_basis_in genetic variations in the human genome." [url:http\://ghr.nlm.nih.gov/] +xref: MSH:D030342 +xref: NCI:C3101 +xref: SNOMEDCT_US_2015_03_01:264530000 +xref: SNOMEDCT_US_2015_03_01:32895009 +xref: UMLS_CUI:C0019247 +is_a: DOID:4 ! disease + +[Term] +id: DOID:6301 +name: prostate basal cell carcinoma +synonym: "basal cell carcinoma of the prostate" RELATED [] +is_obsolete: true + +[Term] +id: DOID:6307 +name: ectopic thymus +xref: NCI:C27804 +xref: UMLS_CUI:C1333375 +is_a: DOID:533 ! thymus gland disease + +[Term] +id: DOID:6308 +name: metastatic transitional cell cancer of the renal pelvis and ureter +synonym: "metastatic Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [NCI2004_11_17:C8064] +is_obsolete: true + +[Term] +id: DOID:631 +name: fibromyalgia +xref: ICD10CM:M79.1 +xref: ICD10CM:M79.7 +xref: MSH:D005356 +xref: NCI:C50566 +xref: NCI:C87497 +xref: SNOMEDCT_US_2015_03_01:1304004 +xref: SNOMEDCT_US_2015_03_01:13612005 +xref: SNOMEDCT_US_2015_03_01:156727006 +xref: SNOMEDCT_US_2015_03_01:203082005 +xref: SNOMEDCT_US_2015_03_01:203101004 +xref: SNOMEDCT_US_2015_03_01:203102006 +xref: SNOMEDCT_US_2015_03_01:203111006 +xref: SNOMEDCT_US_2015_03_01:203138004 +xref: SNOMEDCT_US_2015_03_01:24693007 +xref: SNOMEDCT_US_2015_03_01:247365004 +xref: SNOMEDCT_US_2015_03_01:268107007 +xref: SNOMEDCT_US_2015_03_01:56557000 +xref: UMLS_CUI:C0016053 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:6312 +name: clivus chordoma +def: "A chordoma of skull base that is located in the clivus." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/] +synonym: "Chordoma of Clivus" EXACT [NCI2004_11_17:C5412] +xref: NCI:C5412 +xref: SNOMEDCT_US_2015_03_01:446939001 +xref: UMLS_CUI:C1333071 +is_a: DOID:4151 ! skull base chordoma + +[Term] +id: DOID:6313 +name: clivus chondroid chordoma +def: "A chondroid chordoma and chordoma of the clivus that is located_in the clivus." [url:http\://emedicine.medscape.com/article/1263740-overview] +synonym: "Chondroid Chordoma of the Clivus" EXACT [NCI2004_11_17:C5426] +xref: NCI:C5426 +xref: UMLS_CUI:C1333072 +is_a: DOID:6312 ! clivus chordoma + +[Term] +id: DOID:6314 +name: ovarian fetiform teratoma +xref: NCI:C39996 +xref: UMLS_CUI:C1518715 +is_a: DOID:6231 ! mature teratoma of the ovary + +[Term] +id: DOID:6315 +name: ovarian solid teratoma +xref: NCI:C7285 +xref: UMLS_CUI:C1335181 +is_a: DOID:6231 ! mature teratoma of the ovary + +[Term] +id: DOID:6316 +name: Bartholin's gland adenocarcinoma +synonym: "adenocarcinoma of bartholin's gland" RELATED [] +synonym: "adenocarcinoma of the Bartholin's gland" EXACT [NCI2004_11_17:C7719] +synonym: "Bartholin gland adenocarcinoma" EXACT [] +xref: NCI:C7719 +xref: UMLS_CUI:C0238016 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:6322 +name: tibial adamantinoma +def: "An adamantinoma of long bone that is located_in the tibia." [url:http\://emedicine.medscape.com/article/385977-overview] +synonym: "Tibial adamantinoma" EXACT [SNOMEDCT_2005_07_31:189895006] +synonym: "Tibial adamantinoma" EXACT [SNOMEDCT_2005_07_31:313417009] +synonym: "Tibial adamantinoma" EXACT [NCI2004_11_17:C8461] +synonym: "Tibial adamantinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:281702006] +synonym: "Tibial adamantinoma morphology" EXACT [SNOMEDCT_2005_07_31:210233007] +xref: NCI:C8461 +xref: SNOMEDCT_US_2015_03_01:189895006 +xref: SNOMEDCT_US_2015_03_01:210233007 +xref: SNOMEDCT_US_2015_03_01:281702006 +xref: SNOMEDCT_US_2015_03_01:313417009 +xref: SNOMEDCT_US_2015_03_01:56763007 +xref: UMLS_CUI:C1273017 +is_a: DOID:2775 ! long bone adamantinoma + +[Term] +id: DOID:6327 +name: ovarian dermoid cyst with adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:6328 +name: ovarian dermoid cyst with secondary carcinoma +is_obsolete: true + +[Term] +id: DOID:6329 +name: ovarian dermoid cyst with secondary tumor +is_obsolete: true + +[Term] +id: DOID:633 +name: myositis +def: "A myopathy characterized by muscle inflammation." [url:http\://www.nlm.nih.gov/medlineplus/myositis.html, url:https\://en.wikipedia.org/wiki/Myositis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Inflammatory disorder of muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:128496001] +xref: ICD10CM:G72.49 +xref: ICD10CM:M60 +xref: ICD10CM:M60.9 +xref: MSH:D009220 +xref: NCI:C27578 +xref: OMIM:160750 +xref: SNOMEDCT_US_2015_03_01:128496001 +xref: SNOMEDCT_US_2015_03_01:203110007 +xref: SNOMEDCT_US_2015_03_01:268108002 +xref: SNOMEDCT_US_2015_03_01:26889001 +xref: UMLS_CUI:C0027121 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:6331 +name: immature teratoma of ovary +synonym: "Immature teratoma of ovary (disorder)" EXACT [SNOMEDCT_2005_07_31:254871000] +synonym: "malignant teratoma of Ovary" EXACT [NCI2004_11_17:C8111] +xref: NCI:C8111 +xref: SNOMEDCT_US_2015_03_01:254871000 +xref: UMLS_CUI:C0346182 +is_a: DOID:2155 ! malignant ovarian germ cell neoplasm + +[Term] +id: DOID:6332 +name: adult malignant hemangiopericytoma +xref: NCI:C7946 +xref: UMLS_CUI:C0279547 +is_a: DOID:264 ! hemangiopericytoma + +[Term] +id: DOID:6333 +name: adult intracranial malignant hemangiopericytoma +synonym: "adult malignant intracranial hemangiopericytoma" EXACT [NCI2004_11_17:C9183] +xref: NCI:C9183 +xref: UMLS_CUI:C1334558 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:6334 +name: anterior optic tract meningioma +xref: NCI:C7538 +xref: UMLS_CUI:C1332308 +is_a: DOID:3419 ! optic nerve neoplasm + +[Term] +id: DOID:6335 +name: bilateral meningioma of optic nerve +synonym: "Bilateral meningioma of the optic nerve" EXACT [NCI2004_11_17:C5304] +xref: NCI:C5304 +xref: UMLS_CUI:C1332551 +is_a: DOID:3419 ! optic nerve neoplasm + +[Term] +id: DOID:6337 +name: cerebellopontine angle meningioma +synonym: "Cerebellopontine angle meningioma (disorder)" EXACT [SNOMEDCT_2005_07_31:126948004] +synonym: "meningioma of the Cerebellar Pontine Angle" EXACT [NCI2004_11_17:C5300] +xref: NCI:C5300 +xref: SNOMEDCT_US_2015_03_01:126948004 +xref: UMLS_CUI:C1263882 +is_a: DOID:3200 ! cerebellopontine angle tumor + +[Term] +id: DOID:6338 +name: testicular tumor of the thecoma fibroma group +is_obsolete: true + +[Term] +id: DOID:6339 +name: vulvar eccrine adenocarcinoma +xref: NCI2009_04D:C40305 +is_a: DOID:2098 ! vulva adenocarcinoma + +[Term] +id: DOID:6344 +name: melanocytic psammomatous MPNST +xref: NCI:C6910 +xref: UMLS_CUI:C1513101 +is_a: DOID:6345 ! malignant melanocytic neoplasm of the peripheral nerve sheath + +[Term] +id: DOID:6345 +name: malignant melanocytic neoplasm of the peripheral nerve sheath +synonym: "melanocytic MPNST" EXACT [NCI2004_11_17:C4748] +synonym: "Melanotic malignant nerve sheath tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404039004] +synonym: "Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253094006] +synonym: "Melanotic malignant peripheral nerve sheath tumour" EXACT [SNOMEDCT_2005_07_31:253095007] +xref: NCI:C4748 +xref: SNOMEDCT_US_2015_03_01:253094006 +xref: SNOMEDCT_US_2015_03_01:253095007 +xref: SNOMEDCT_US_2015_03_01:404039004 +xref: UMLS_CUI:C0474847 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:635 +name: acquired immunodeficiency syndrome +def: "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS." [url:http\://en.wikipedia.org/wiki/AIDS, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids] +subset: zoonotic_infectious_disease +synonym: "acquired Immune deficiency" EXACT [NCI2004_11_17:C2851] +synonym: "acquired immune deficiency syndrome" RELATED [SNOMEDCT_2005_07_31:186705005] +synonym: "AIDS" EXACT [] +xref: EFO:0000765 +xref: ICD10CM:B20 +xref: MSH:D000163 +xref: NCI:C2851 +xref: OMIM:609423 +xref: SNOMEDCT_US_2015_03_01:186705005 +xref: SNOMEDCT_US_2015_03_01:186715004 +xref: SNOMEDCT_US_2015_03_01:234644008 +xref: SNOMEDCT_US_2015_03_01:266201009 +xref: SNOMEDCT_US_2015_03_01:62479008 +xref: UMLS_CUI:C0001175 +is_a: DOID:526 ! Human immunodeficiency virus infectious disease + +[Term] +id: DOID:6354 +name: CLL/SLL +def: "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes." [url:http\://www.cancer.gov/dictionary?CdrID=641291] +subset: DO_cancer_slim +synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [] +synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399607007] +xref: NCI:C27911 +xref: SNOMEDCT_US_2015_03_01:399607007 +xref: UMLS_CUI:C1302547 +is_a: DOID:1040 ! chronic lymphocytic leukemia + +[Term] +id: DOID:636 +name: central pontine myelinolysis +synonym: "central pontine myelinolysis (disorder)" EXACT [SNOMEDCT_2005_07_31:6807001] +synonym: "central pontine myelinosis" EXACT [MTHICD9_2006:341.8] +xref: ICD10CM:G37.2 +xref: MSH:D017590 +xref: NCI:C84623 +xref: SNOMEDCT_US_2015_03_01:6807001 +xref: UMLS_CUI:C0206083 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:6361 +name: renal cell carcinoma with constitutional chromosome 3 translocations +is_obsolete: true + +[Term] +id: DOID:6364 +name: migraine +alt_id: DOID:12437 +def: "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing." [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.com/health/migraine-headache/DS00120] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "migraine disorder" EXACT [] +synonym: "migraine variant" EXACT [] +synonym: "migraine with or without aura" EXACT [] +xref: EFO:0003821 +xref: ICD10CM:G43 +xref: ICD10CM:G43.9 +xref: ICD10CM:G43.909 +xref: ICD9CM:346 +xref: ICD9CM:346.9 +xref: MSH:D008881 +xref: NCI:C89715 +xref: OMIM:157300 +xref: OMIM:613656 +xref: SNOMEDCT_US_2015_03_01:155046006 +xref: SNOMEDCT_US_2015_03_01:155048007 +xref: SNOMEDCT_US_2015_03_01:193030005 +xref: SNOMEDCT_US_2015_03_01:193036004 +xref: SNOMEDCT_US_2015_03_01:193041007 +xref: SNOMEDCT_US_2015_03_01:267699004 +xref: SNOMEDCT_US_2015_03_01:37796009 +xref: UMLS_CUI:C0042331 +xref: UMLS_CUI:C0149931 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:6367 +name: acral lentiginous melanoma +def: "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes." [url:http\://en.wikipedia.org/wiki/Acral_lentiginous_melanoma, url:http\://en.wikipedia.org/wiki/Lentigo, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/] +subset: DO_cancer_slim +synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:16974005] +synonym: "malignant acral lentiginous melanoma" EXACT [SNOMEDCT_2005_07_31:189755003] +is_a: DOID:8923 ! skin melanoma + +[Term] +id: DOID:637 +name: metabolic brain disease +synonym: "Metabolic encephalopathy" EXACT [ICD9CM_2006:348.31] +synonym: "Metabolic encephalopathy" EXACT [SNOMEDCT_2005_07_31:276258006] +synonym: "Metabolic encephalopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:50122000] +is_obsolete: true + +[Term] +id: DOID:6370 +name: hepatic osteogenic sarcoma +synonym: "Osteosarcoma of Liver" EXACT [NCI2004_11_17:C5833] +xref: NCI:C5833 +xref: UMLS_CUI:C1333974 +is_a: DOID:270 ! liver sarcoma +is_a: DOID:3357 ! extraosseous osteosarcoma + +[Term] +id: DOID:6376 +name: hypersplenism +synonym: "hypersplenia" EXACT [MTHICD9_2006:289.4] +synonym: "hypersplenism (disorder)" EXACT [SNOMEDCT_2005_07_31:58381000] +xref: ICD10CM:D73.1 +xref: ICD9CM:289.4 +xref: MSH:D006971 +xref: NCI:C34714 +xref: SNOMEDCT_US_2015_03_01:154839008 +xref: SNOMEDCT_US_2015_03_01:267570002 +xref: SNOMEDCT_US_2015_03_01:58381000 +xref: UMLS_CUI:C0020532 +is_a: DOID:2529 ! splenic disease + +[Term] +id: DOID:6379 +name: diffuse meningeal melanocytosis +synonym: "Diffuse melanocytosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128729004] +synonym: "Diffuse Melanosis" EXACT [NCI2004_11_17:C6890] +xref: NCI:C6890 +xref: SNOMEDCT_US_2015_03_01:128729004 +xref: UMLS_CUI:C1266112 +is_a: DOID:4955 ! central nervous system melanocytic neoplasm + +[Term] +id: DOID:638 +name: demyelinating disease of central nervous system +is_obsolete: true + +[Term] +id: DOID:6381 +name: anterior foramen magnum meningioma +synonym: "meningioma of the Anterior Foramen Magnum" EXACT [NCI2004_11_17:C5281] +xref: NCI:C5281 +xref: UMLS_CUI:C1332302 +is_a: DOID:4708 ! foramen magnum meningioma + +[Term] +id: DOID:6382 +name: recurrent childhood glioma of brain stem +synonym: "relapsed pediatric glioma of Brainstem" EXACT [NCI2004_11_17:C9190] +is_obsolete: true + +[Term] +id: DOID:6383 +name: childhood brain stem glioma +synonym: "pediatric glioma of the Brainstem" EXACT [NCI2004_11_17:C9042] +xref: NCI:C9042 +xref: UMLS_CUI:C0278600 +is_a: DOID:4206 ! childhood brain stem neoplasm + +[Term] +id: DOID:6384 +name: recurrent childhood central nervous system tumor +is_obsolete: true + +[Term] +id: DOID:6385 +name: recurrent childhood brainstem astrocytoma +is_obsolete: true + +[Term] +id: DOID:6386 +name: childhood brainstem astrocytoma +xref: NCI:C6216 +xref: UMLS_CUI:C1332950 +is_a: DOID:6383 ! childhood brain stem glioma + +[Term] +id: DOID:639 +name: acute disseminated encephalomyelitis +def: "An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis, url:http\://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm] +synonym: "acute disseminated encephalitis" EXACT [CSP2005:0944-4849] +synonym: "acute disseminated encephalitis" EXACT [CSP2005:2042-4989] +synonym: "acute Disseminated Encephalomyelitis" EXACT [NCI2004_11_17:C34578] +synonym: "acute disseminated encephalomyelitis (disorder)" EXACT [SNOMEDCT_2005_07_31:83942000] +synonym: "ADEM" EXACT [ICD9CM:323.61] +xref: MSH:D004673 +xref: NCI:C34578 +xref: SNOMEDCT_US_2015_03_01:83942000 +xref: UMLS_CUI:C0014059 +is_a: DOID:640 ! encephalomyelitis + +[Term] +id: DOID:64 +name: epithelial tissue disease +is_obsolete: true + +[Term] +id: DOID:640 +name: encephalomyelitis +synonym: "Encephalitis &/or myelitis" EXACT [SNOMEDCT_2005_07_31:267682000] +xref: MSH:D004679 +xref: NCI:C34580 +xref: SNOMEDCT_US_2015_03_01:154991009 +xref: SNOMEDCT_US_2015_03_01:192682002 +xref: SNOMEDCT_US_2015_03_01:192735003 +xref: SNOMEDCT_US_2015_03_01:192736002 +xref: SNOMEDCT_US_2015_03_01:230196000 +xref: SNOMEDCT_US_2015_03_01:267682000 +xref: SNOMEDCT_US_2015_03_01:267684004 +xref: SNOMEDCT_US_2015_03_01:286936006 +xref: SNOMEDCT_US_2015_03_01:62950007 +xref: UMLS_CUI:C0014070 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:6404 +name: metanephric adenoma +synonym: "Metanephric adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128670007] +xref: NCI:C27253 +xref: SNOMEDCT_US_2015_03_01:128670007 +xref: UMLS_CUI:C1266045 +is_a: DOID:2697 ! renal adenoma + +[Term] +id: DOID:6405 +name: ovarian papillary cystadenoma +xref: NCI:C7278 +xref: UMLS_CUI:C1335175 +is_a: DOID:3269 ! ovarian cystadenoma +is_a: DOID:6214 ! ovarian papillary neoplasm + +[Term] +id: DOID:6406 +name: double outlet right ventricle +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Dextrotransposition of aorta (disorder)" EXACT [SNOMEDCT_2005_07_31:204299009] +synonym: "Double outlet right ventricle" EXACT [ICD9CM_2006:745.11] +synonym: "Double outlet right ventricle (disorder)" EXACT [SNOMEDCT_2005_07_31:7484005] +synonym: "Double outlet right ventricle NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:204302009] +synonym: "Double outlet right ventricle with subpulmonary ventricular septal defect" EXACT [SNOMEDCT_2005_07_31:204301002] +synonym: "Double outlet right ventricle, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:204298001] +synonym: "Taussig-Bing syndrome or defect" EXACT [MTHICD9_2006:745.11] +xref: ICD10CM:Q20.1 +xref: ICD9CM:745.11 +xref: MSH:D004310 +xref: NCI:C98916 +xref: OMIM:217095 +xref: SNOMEDCT_US_2015_03_01:204298001 +xref: SNOMEDCT_US_2015_03_01:204302009 +xref: SNOMEDCT_US_2015_03_01:7484005 +xref: UMLS_CUI:C0013069 +is_a: DOID:1657 ! ventricular septal defect + +[Term] +id: DOID:6407 +name: ovarian surface papilloma +xref: NCI:C7279 +xref: UMLS_CUI:C1335183 +is_a: DOID:6214 ! ovarian papillary neoplasm + +[Term] +id: DOID:6408 +name: ovary papillary carcinoma +synonym: "serous Surface Papillary carcinoma of Ovary" EXACT [NCI2004_11_17:C6256] +xref: NCI:C6256 +xref: UMLS_CUI:C1335178 +is_a: DOID:6214 ! ovarian papillary neoplasm + +[Term] +id: DOID:641 +name: CNS demyelinating autoimmune disease +is_obsolete: true + +[Term] +id: DOID:6419 +name: tetralogy of Fallot +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [MTHICD9_2006:745.2] +xref: ICD10CM:Q21.3 +xref: ICD9CM:745.2 +xref: MSH:D013771 +xref: NCI:C84505 +xref: OMIM:187500 +xref: SNOMEDCT_US_2015_03_01:156913009 +xref: SNOMEDCT_US_2015_03_01:204305006 +xref: SNOMEDCT_US_2015_03_01:204307003 +xref: SNOMEDCT_US_2015_03_01:268177006 +xref: SNOMEDCT_US_2015_03_01:86299006 +xref: UMLS_CUI:C0039685 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:642 +name: demyelinating encephalopathy +is_obsolete: true + +[Term] +id: DOID:6420 +name: pulmonary valve stenosis +xref: MSH:D011666 +xref: SNOMEDCT_US_2015_03_01:56786000 +xref: UMLS_CUI:C0034089 +is_a: DOID:5749 ! pulmonary valve disease + +[Term] +id: DOID:6423 +name: childhood central nervous system mature teratoma +xref: NCI:C27404 +xref: UMLS_CUI:C1332955 +is_a: DOID:6017 ! central nervous system mature teratoma + +[Term] +id: DOID:6424 +name: pediatric CNS teratoma +synonym: "pediatric teratoma of central nervous system" EXACT [NCI2004_11_17:C6204] +is_obsolete: true + +[Term] +id: DOID:6425 +name: eyelid carcinoma +synonym: "carcinoma of the eyelid" EXACT [NCI2004_11_17:C6078] +xref: NCI:C6078 +xref: UMLS_CUI:C0920196 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:6428 +name: cervical adenoid basal carcinoma +xref: NCI:C40213 +xref: UMLS_CUI:C1516403 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:643 +name: progressive multifocal leukoencephalopathy +def: "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." [url:http\://www.merck.com/mmpe/sec16/ch217/ch217f.html, url:http\://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy, url:http\://www.ninds.nih.gov/disorders/pml/pml.htm] +synonym: "PML" RELATED [CSP2005:2042-2309] +xref: ICD10CM:A81.2 +xref: ICD9CM:046.3 +xref: MSH:D007968 +xref: NCI:C26815 +xref: SNOMEDCT_US_2015_03_01:22255007 +xref: UMLS_CUI:C0023524 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:6432 +name: pulmonary hypertension +def: "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." [PMID:19555858, url:https\://en.wikipedia.org/wiki/Pulmonary_hypertension] +xref: ICD10CM:I27.2 +xref: MSH:D006976 +xref: NCI:C3120 +xref: SNOMEDCT_US_2015_03_01:155328008 +xref: SNOMEDCT_US_2015_03_01:266293003 +xref: SNOMEDCT_US_2015_03_01:70995007 +xref: UMLS_CUI:C0020542 +is_a: DOID:10763 ! hypertension + +[Term] +id: DOID:6438 +name: malignant choroid melanoma +synonym: "malignant melanoma of choroid (disorder)" EXACT [SNOMEDCT_2005_07_31:255021005] +synonym: "melanoma of the Choroid" EXACT [NCI2004_11_17:C4561] +xref: NCI:C4561 +xref: SNOMEDCT_US_2015_03_01:255021005 +xref: UMLS_CUI:C0346388 +is_a: DOID:12759 ! choroid cancer + +[Term] +id: DOID:644 +name: leukoencephalopathy +synonym: "Leukoencephalopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:22811006] +is_obsolete: true + +[Term] +id: DOID:6445 +name: ovarian endometrioid malignant adenofibroma +xref: NCI:C40060 +xref: UMLS_CUI:C1518711 +is_a: DOID:6170 ! ovarian carcinosarcoma + +[Term] +id: DOID:6446 +name: ceruminous carcinoma +synonym: "Ceruminous adenocarcinoma" EXACT [NCI2004_11_17:C4176] +synonym: "Ceruminous adenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:58069009] +xref: NCI:C4176 +xref: SNOMEDCT_US_2015_03_01:58069009 +xref: UMLS_CUI:C0334353 +is_a: DOID:4933 ! apocrine adenocarcinoma + +[Term] +id: DOID:6447 +name: ceruminous tumor +is_obsolete: true + +[Term] +id: DOID:6448 +name: vulvar apocrine adenocarcinoma +xref: NCI2009_04D:C40308 +is_a: DOID:2098 ! vulva adenocarcinoma + +[Term] +id: DOID:6451 +name: central nervous system fibrosarcoma +synonym: "Fibrosarcoma of the CNS" EXACT [NCI2004_11_17:C5465] +xref: NCI:C5465 +xref: UMLS_CUI:C1332879 +is_a: DOID:2133 ! central nervous system sarcoma + +[Term] +id: DOID:6457 +name: Cowden disease +alt_id: DOID:3471 +def: "An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes." [url:http\://en.wikipedia.org/wiki/Cowden_syndrome, url:http\://ghr.nlm.nih.gov/condition/cowden-syndrome, url:http\://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1] +comment: Xref MGI.\nMERGED COMMENT:\nTARGET COMMENT: OMIM mapping confirmed by DO. [SN].\n--------------------\nSOURCE COMMENT: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "dysplastic Gangliocytoma of Cerebellum" EXACT [NCI2004_11_17:C8419] +synonym: "Lhermitte-Duclos disease (disorder)" EXACT [SNOMEDCT_2005_07_31:67944007] +synonym: "multiple hamartoma syndrome" RELATED [] +xref: MSH:D006223 +xref: NCI:C3076 +xref: NCI:C8419 +xref: OMIM:158350 +xref: OMIM:612359 +xref: OMIM:615106 +xref: OMIM:615107 +xref: OMIM:615109 +xref: ORDO:201 +xref: SNOMEDCT_US_2015_03_01:58037000 +xref: SNOMEDCT_US_2015_03_01:67944007 +xref: UMLS_CUI:C0018553 +xref: UMLS_CUI:C0391826 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:6458 +name: cerebellar liponeurocytoma +synonym: "Cerebellar liponeurocytoma" EXACT [SNOMEDCT_2005_07_31:128858006] +synonym: "Lipomatous Medulloblastoma" EXACT [NCI2004_11_17:C6905] +xref: NCI:C6905 +xref: SNOMEDCT_US_2015_03_01:128858006 +xref: UMLS_CUI:C1370507 +is_a: DOID:4205 ! cerebellum cancer + +[Term] +id: DOID:6459 +name: lipoma of the rectum +synonym: "Lipoma of rectum" EXACT [NCI2004_11_17:C5551] +xref: NCI:C5551 +xref: UMLS_CUI:C1335684 +is_a: DOID:6460 ! large intestine lipoma + +[Term] +id: DOID:646 +name: viral encephalitis +alt_id: DOID:10248 +alt_id: DOID:10249 +alt_id: DOID:10839 +def: "An encephalitis that involves inflammation of the brain caused by viral infection." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14978145] +synonym: "Arbovirus encephalitis" EXACT [MTH:NOCODE] +synonym: "arbovirus encephalitis" EXACT [] +synonym: "Arbovirus encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192687008] +synonym: "Arbovirus encephalitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:68197003] +synonym: "Arthropod-borne viral encephalitis, vector unknown" EXACT [MTHICD9_2006:064] +synonym: "Arthropod-borne viral encephalitis, vector unknown (disorder)" EXACT [SNOMEDCT_2005_07_31:285756005] +synonym: "Encephalitis - viral" EXACT [SNOMEDCT_2005_07_31:154321007] +synonym: "Encephalitis - viral" EXACT [SNOMEDCT_2005_07_31:266190006] +synonym: "Encephalitis in viral disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192694006] +synonym: "Epidemic Encephalitis" EXACT [NCI2004_11_17:C34576] +synonym: "Epidemic encephalitis" EXACT [SNOMEDCT_2005_07_31:186499007, SNOMEDCT_2005_07_31:20411005] +synonym: "epidemic encephalitis" EXACT [CSP2005:2042-4896] +synonym: "Epidemic encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186498004] +synonym: "mosquito-borne viral encephalitis" EXACT [] +synonym: "tick-borne viral encephalitis" EXACT [] +synonym: "Unspecified viral encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:187400005] +synonym: "Viral Encephalitis" EXACT [NCI2004_11_17:C35302] +synonym: "Viral encephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:34476008] +synonym: "Viral encephalitis NOS" EXACT [SNOMEDCT_2005_07_31:186503001] +xref: MSH:D004671 +xref: NCI:C34576 +xref: SNOMEDCT_US_2015_03_01:186498004 +xref: SNOMEDCT_US_2015_03_01:186499007 +xref: SNOMEDCT_US_2015_03_01:192687008 +xref: SNOMEDCT_US_2015_03_01:20411005 +xref: SNOMEDCT_US_2015_03_01:285756005 +xref: SNOMEDCT_US_2015_03_01:68197003 +xref: UMLS_CUI:C0014055 +is_a: DOID:9588 ! encephalitis + +[Term] +id: DOID:6460 +name: large intestine lipoma +synonym: "Lipoma of large Intestine" EXACT [NCI2004_11_17:C5678] +xref: NCI:C5678 +xref: UMLS_CUI:C1333114 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:6467 +name: bone recurrent Ewing's sarcoma +synonym: "relapsed Skeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C6622] +is_obsolete: true + +[Term] +id: DOID:6468 +name: mucinous cystadenofibroma +xref: NCI:C8979 +xref: SNOMEDCT_US_2015_03_01:10705005 +xref: UMLS_CUI:C1377844 +is_a: DOID:5482 ! cystadenofibroma + +[Term] +id: DOID:6469 +name: ovarian mucinous adenofibroma +xref: NCI:C40040 +xref: UMLS_CUI:C1518723 +is_a: DOID:0060112 ! ovarian benign neoplasm + +[Term] +id: DOID:647 +name: Polyomavirus infectious disease +def: "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." [url:http\://en.wikipedia.org/wiki/Polyomavirus] +is_obsolete: true + +[Term] +id: DOID:6474 +name: childhood teratocarcinoma of the testis +synonym: "pediatric testicular Teratocarcinoma" EXACT [NCI2004_11_17:C6539] +xref: NCI:C6539 +xref: UMLS_CUI:C1333008 +is_a: DOID:6161 ! childhood testicular mixed germ cell tumor + +[Term] +id: DOID:6476 +name: clear cell variant infiltrating bladder urothelial carcinoma +xref: NCI:C39827 +xref: UMLS_CUI:C1512737 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:6477 +name: invasive bladder transitional cell carcinoma +synonym: "Invasive bladder Urothelial carcinoma" EXACT [NCI2004_11_17:C27885] +xref: NCI:C27885 +xref: UMLS_CUI:C1334281 +is_a: DOID:4006 ! bladder transitional cell carcinoma + +[Term] +id: DOID:648 +name: kuru +synonym: "kuru encephalopathy" EXACT [] +xref: ICD10CM:A81.81 +xref: ICD9CM:046.0 +xref: MSH:D007729 +xref: SNOMEDCT_US_2015_03_01:192684001 +xref: SNOMEDCT_US_2015_03_01:86188000 +xref: UMLS_CUI:C0022802 +is_a: DOID:649 ! prion disease + +[Term] +id: DOID:6481 +name: bladder signet ring cell adenocarcinoma +synonym: "signet ring cell adenocarcinoma of bladder" RELATED [] +synonym: "urinary bladder Signet Ring adenocarcinoma" EXACT [NCI2004_11_17:C6163] +xref: NCI:C6163 +xref: UMLS_CUI:C1332563 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:6482 +name: lung acinar adenocarcinoma +synonym: "acinar adenocarcinoma of the lung" EXACT [NCI2004_11_17:C5649] +xref: NCI:C5649 +xref: UMLS_CUI:C1332137 +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:6483 +name: rete testis adenoma +xref: NCI:C39956 +xref: UMLS_CUI:C1514910 +is_a: DOID:5639 ! rete testis neoplasm + +[Term] +id: DOID:6484 +name: mediastinal melanocytic neurilemmoma +synonym: "melanocytic Schwannoma of mediastinum" EXACT [NCI2004_11_17:C6635] +xref: NCI:C6635 +xref: UMLS_CUI:C1334668 +is_a: DOID:3205 ! melanotic neurilemmoma +is_a: DOID:6175 ! mediastinal neurilemmoma + +[Term] +id: DOID:6488 +name: metastatic tumor to the iris +is_obsolete: true + +[Term] +id: DOID:6489 +name: periosteal osteogenic sarcoma +synonym: "Periosteal osteogenic sarcoma" EXACT [SNOMEDCT_2005_07_31:91242000] +synonym: "Periosteal Osteosarcoma" EXACT [MTH:NOCODE] +synonym: "Periosteal osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128772005] +xref: NCI:C8970 +xref: SNOMEDCT_US_2015_03_01:128772005 +xref: SNOMEDCT_US_2015_03_01:91242000 +xref: UMLS_CUI:C1377843 +is_a: DOID:3374 ! peripheral osteosarcoma + +[Term] +id: DOID:649 +name: prion disease +def: "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins." [url:http\://en.wikipedia.org/wiki/Prion, url:http\://www.cdc.gov/ncidod/dvrd/prions/, url:http\://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/prion_diseases_134\,56/] +synonym: "Prion disease pathway" EXACT [NCI2004_11_17:C38853] +synonym: "prion induced disorder" EXACT [CSP2005:2042-5040] +synonym: "Prion protein disease" EXACT [SNOMEDCT_2005_07_31:193172009] +synonym: "Spongiform Encephalopathy" EXACT [NCI2004_11_17:C27585] +synonym: "transmissible spongiform encephalopathy" EXACT [] +xref: ICD10CM:A81.9 +xref: KEGG:05020 +xref: MSH:D017096 +xref: NCI:C27585 +xref: SNOMEDCT_US_2015_03_01:193172009 +xref: SNOMEDCT_US_2015_03_01:20484008 +xref: SNOMEDCT_US_2015_03_01:230284004 +xref: UMLS_CUI:C0162534 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:6491 +name: breast capillary hemangioma +synonym: "Capillary Angioma of breast" EXACT [NCI2004_11_17:C5210] +xref: NCI:C5210 +xref: UMLS_CUI:C1332619 +is_a: DOID:476 ! breast hemangioma + +[Term] +id: DOID:6492 +name: breast epithelioid hemangioma +synonym: "breast Histiocytoid hemangioma" EXACT [NCI2004_11_17:C5211] +xref: NCI:C5211 +xref: UMLS_CUI:C1332627 +is_a: DOID:476 ! breast hemangioma + +[Term] +id: DOID:6494 +name: pediatric myxoid chondrosarcoma +xref: NCI:C27377 +xref: UMLS_CUI:C1332984 +is_a: DOID:5861 ! myxoid chondrosarcoma + +[Term] +id: DOID:6495 +name: adult myxoid chondrosarcoma +def: "An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa." [url:http\://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970409-0] +xref: NCI:C27378 +xref: UMLS_CUI:C1332209 +is_a: DOID:5861 ! myxoid chondrosarcoma + +[Term] +id: DOID:6496 +name: extraskeletal myxoid chondrosarcoma +def: "An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_tumor, url:http\://www.ncbi.nlm.nih.gov/pubmed/10564384] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "extraskeletal myxoid chondrosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:404079008] +synonym: "Myxoid extraosseous chondrosarcoma" EXACT [NCI2004_11_17:C27502] +xref: MSH:C563195 +xref: NCI:C27502 +xref: OMIM:612237 +xref: SNOMEDCT_US_2015_03_01:404079008 +xref: UMLS_CUI:C1275278 +is_a: DOID:4549 ! extraosseous chondrosarcoma + +[Term] +id: DOID:6498 +name: seborrheic keratosis +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:L82 +xref: ICD10CM:L82.1 +xref: ICD9CM:702.1 +xref: MSH:D017492 +xref: NCI:C9006 +xref: OMIM:182000 +xref: SNOMEDCT_US_2015_03_01:156400006 +xref: SNOMEDCT_US_2015_03_01:201096007 +xref: SNOMEDCT_US_2015_03_01:201107006 +xref: SNOMEDCT_US_2015_03_01:25499005 +xref: SNOMEDCT_US_2015_03_01:267860005 +xref: SNOMEDCT_US_2015_03_01:394726009 +xref: SNOMEDCT_US_2015_03_01:394727000 +xref: SNOMEDCT_US_2015_03_01:398838000 +xref: SNOMEDCT_US_2015_03_01:50563003 +xref: UMLS_CUI:C0022603 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:65 +name: connective tissue disease +def: "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] +synonym: "Connective tissue dis." EXACT [SNOMEDCT_2005_07_31:268048008] +synonym: "Connective tissue disease" EXACT [SNOMEDCT_2005_07_31:201432001] +synonym: "Connective tissue disease" EXACT [MTH:NOCODE] +synonym: "Connective tissue disorder" EXACT [NCI2004_11_17:C26729] +synonym: "connective tissue disorder" EXACT [CSP2005:0729-7208] +synonym: "disorder of connective tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:105969002] +synonym: "Other musculoskelet/connectiv" EXACT [SNOMEDCT_2005_07_31:268126004] +xref: MSH:D003240 +xref: NCI:C26729 +xref: SNOMEDCT_US_2015_03_01:105969002 +xref: SNOMEDCT_US_2015_03_01:201432001 +xref: SNOMEDCT_US_2015_03_01:268048008 +xref: SNOMEDCT_US_2015_03_01:268126004 +xref: UMLS_CUI:C0009782 +is_a: DOID:17 ! musculoskeletal system disease + +[Term] +id: DOID:6500 +name: cerebellar angioblastoma +synonym: "Hemangioblastoma of Cerebellum" EXACT [NCI2004_11_17:C5146] +xref: NCI:C5146 +xref: UMLS_CUI:C1332900 +is_a: DOID:4205 ! cerebellum cancer + +[Term] +id: DOID:6501 +name: brain stem angioblastoma +synonym: "Hemangioblastoma of Brainstem" EXACT [NCI2004_11_17:C5147] +xref: NCI:C5147 +xref: UMLS_CUI:C1332611 +is_a: DOID:4203 ! brain stem cancer + +[Term] +id: DOID:6505 +name: vaginal spindle cell epithelioma +xref: NCI:C40280 +xref: UMLS_CUI:C1511107 +is_a: DOID:135 ! benign vaginal carcinosarcoma + +[Term] +id: DOID:6506 +name: anaplastic seminoma +synonym: "Seminoma with high mitotic index" EXACT [SNOMEDCT_2005_07_31:72907003] +synonym: "testicular Seminoma with High Mitotic Index" EXACT [NCI2004_11_17:C39920] +is_obsolete: true + +[Term] +id: DOID:6510 +name: lung occult squamous cell carcinoma +synonym: "occult squamous cell carcinoma of lung" RELATED [] +synonym: "Occult squamous cell carcinoma of the lung" EXACT [NCI2004_11_17:C6686] +xref: NCI:C6686 +xref: UMLS_CUI:C1335100 +is_a: DOID:3907 ! lung squamous cell carcinoma + +[Term] +id: DOID:6511 +name: glandular pattern ovarian yolk sac tumor +xref: NCI:C39988 +xref: UMLS_CUI:C1518747 +is_a: DOID:5350 ! ovarian endodermal sinus tumor + +[Term] +id: DOID:6512 +name: hepatoid pattern ovarian yolk sac tumor +xref: NCI:C39989 +xref: UMLS_CUI:C1518748 +is_a: DOID:5350 ! ovarian endodermal sinus tumor + +[Term] +id: DOID:6514 +name: polyvesicular vitelline pattern ovarian yolk sac tumor +xref: NCI:C39987 +xref: UMLS_CUI:C1518749 +is_a: DOID:5350 ! ovarian endodermal sinus tumor + +[Term] +id: DOID:6517 +name: clivus meningioma +synonym: "meningioma of the Clivus" EXACT [NCI2004_11_17:C5289] +xref: NCI:C5289 +xref: UMLS_CUI:C1333073 +is_a: DOID:4211 ! posterior cranial fossa meningioma +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:6518 +name: Bartholin's gland adenomyoma +synonym: "Bartholin gland adenomyoma" EXACT [] +xref: NCI:C40300 +xref: UMLS_CUI:C1511049 +is_a: DOID:2068 ! Bartholin's gland benign neoplasm + +[Term] +id: DOID:652 +name: congenital musculoskeletal abnormality +synonym: "Congenital malformation and deformation of the musculoskeletal system (disorder)" EXACT [SNOMEDCT_2005_07_31:73573004] +synonym: "Congenital malformations and deformations of the musculoskeletal system (disorder)" EXACT [SNOMEDCT_2005_07_31:205947008] +synonym: "Congenital musculoskeletal anomalies NOS" EXACT [SNOMEDCT_2005_07_31:205535007] +synonym: "Congenital musculoskeletal anomalies NOS" EXACT [SNOMEDCT_2005_07_31:156998001] +synonym: "Congenital musculoskeletal anomalies NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:268281003] +synonym: "congenital musculoskeletal anomaly" EXACT [] +synonym: "Congenital musculoskeletal deformities" EXACT [SNOMEDCT_2005_07_31:205033007] +synonym: "Congenital musculoskeletal deformity NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:205117007] +synonym: "Skeletal anomaly-congen" EXACT [SNOMEDCT_2005_07_31:268336000] +is_obsolete: true + +[Term] +id: DOID:6522 +name: mixed cell uveal melanoma +xref: NCI:C35781 +xref: UMLS_CUI:C1334782 +is_a: DOID:6039 ! uveal melanoma + +[Term] +id: DOID:6523 +name: ciliary body mixed cell melanoma +xref: NCI:C35783 +xref: UMLS_CUI:C1333051 +is_a: DOID:6522 ! mixed cell uveal melanoma +is_a: DOID:6524 ! malignant ciliary body melanoma + +[Term] +id: DOID:6524 +name: malignant ciliary body melanoma +synonym: "malignant melanoma of ciliary body (disorder)" EXACT [SNOMEDCT_2005_07_31:255015006] +synonym: "melanoma of the Ciliary body" EXACT [NCI2004_11_17:C4558] +xref: NCI:C4558 +xref: SNOMEDCT_US_2015_03_01:255015006 +xref: UMLS_CUI:C0346379 +is_a: DOID:4352 ! ciliary body cancer + +[Term] +id: DOID:6525 +name: choroid mixed cell melanoma +xref: NCI:C35782 +xref: UMLS_CUI:C1333025 +is_a: DOID:6438 ! malignant choroid melanoma + +[Term] +id: DOID:653 +name: purine-pyrimidine metabolic disorder +def: "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism] +synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [] +xref: ICD10CM:E79.8 +xref: ICD9CM:277.2 +xref: SNOMEDCT_US_2015_03_01:190917005 +xref: SNOMEDCT_US_2015_03_01:190922005 +xref: SNOMEDCT_US_2015_03_01:191109006 +xref: SNOMEDCT_US_2015_03_01:267450006 +xref: UMLS_CUI:C0029595 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:6530 +name: cortical thymoma +synonym: "Polygonal cell Thymoma" EXACT [NCI2004_11_17:C6888] +synonym: "Thymoma, cortical" EXACT [SNOMEDCT_2005_07_31:128713007] +xref: NCI:C6888 +xref: SNOMEDCT_US_2015_03_01:128713007 +xref: UMLS_CUI:C1266095 +is_a: DOID:3282 ! dendritic cell thymoma + +[Term] +id: DOID:6532 +name: monomorphic B-cell PTLD +is_obsolete: true + +[Term] +id: DOID:6533 +name: monomorphic PTLD +is_obsolete: true + +[Term] +id: DOID:6535 +name: plasma cell PTLD +is_obsolete: true + +[Term] +id: DOID:6536 +name: plasma cell neoplasm +synonym: "Plasma cell dyscrasia (disorder)" EXACT [SNOMEDCT_2005_07_31:71390001] +synonym: "Plasma cell tumour" EXACT [SNOMEDCT_2005_07_31:274907000] +synonym: "Plasmacytic tumor" EXACT [NCI2004_11_17:C4665] +xref: EFO:0000200 +xref: MSH:D010265 +xref: SNOMEDCT_US_2015_03_01:277576009 +xref: SNOMEDCT_US_2015_03_01:71390001 +xref: UMLS_CUI:C1136084 +is_a: DOID:706 ! mature B-cell neoplasm + +[Term] +id: DOID:654 +name: overnutrition +comment: Updated outdated UMLS CUI. +xref: MSH:D044343 +xref: SNOMEDCT_US_2015_03_01:302872003 +xref: UMLS_CUI:C1257763 +is_a: DOID:374 ! nutrition disease + +[Term] +id: DOID:6540 +name: transient organic mental disorder +is_obsolete: true + +[Term] +id: DOID:6543 +name: acne +alt_id: DOID:9906 +def: "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring." [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance] +synonym: "Acne varioliformis" EXACT [ICD9CM_2006:706.0] +synonym: "acne vulgaris" EXACT [] +synonym: "frontalis acne" EXACT [] +xref: ICD10CM:L70 +xref: ICD10CM:L70.2 +xref: ICD10CM:L70.9 +xref: ICD9CM:706.0 +xref: MTH:217 +xref: NCI:C27195 +xref: OMIM:604324 +xref: SNOMEDCT_US_2015_03_01:11381005 +xref: SNOMEDCT_US_2015_03_01:201210008 +xref: SNOMEDCT_US_2015_03_01:201211007 +xref: SNOMEDCT_US_2015_03_01:201212000 +xref: SNOMEDCT_US_2015_03_01:201229002 +xref: SNOMEDCT_US_2015_03_01:201408008 +xref: SNOMEDCT_US_2015_03_01:23894009 +xref: SNOMEDCT_US_2015_03_01:267815009 +xref: UMLS_CUI:C0152249 +xref: UMLS_CUI:C0702166 +is_a: DOID:9098 ! sebaceous gland disease + +[Term] +id: DOID:6544 +name: atypical meningioma +synonym: "Atypical meningioma" EXACT [NCI2004_11_17:C4723] +synonym: "Atypical meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128914005] +is_obsolete: true + +[Term] +id: DOID:6545 +name: adult atypical meningioma +is_obsolete: true + +[Term] +id: DOID:6546 +name: secondary cardiac lymphoma +synonym: "secondary Heart Lymphoma" EXACT [NCI2004_11_17:C5369] +is_obsolete: true + +[Term] +id: DOID:6547 +name: heart lymphoma +synonym: "Lymphoma of Heart" EXACT [NCI2004_11_17:C5368] +xref: NCI:C5368 +xref: UMLS_CUI:C1332850 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:6548 +name: angiomatous meningioma +synonym: "Angiomatous meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:73918009] +xref: MSH:D008579 +xref: NCI:C4332 +xref: SNOMEDCT_US_2015_03_01:73918009 +xref: UMLS_CUI:C0334608 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:6549 +name: schistosoma hematobium-related bladder verrucous squamous cell carcinoma +is_obsolete: true + +[Term] +id: DOID:655 +name: inherited metabolic disorder +def: "A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] +synonym: "Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816] +synonym: "inborn metabolism disorder" EXACT [CSP2005:1849-0057] +synonym: "Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007] +xref: MSH:D008661 +xref: NCI:C34816 +xref: SNOMEDCT_US_2015_03_01:363205007 +xref: SNOMEDCT_US_2015_03_01:86095007 +xref: UMLS_CUI:C0025521 +is_a: DOID:0014667 ! disease of metabolism + +[Term] +id: DOID:6552 +name: gastric small cell carcinoma +synonym: "small cell carcinoma of stomach" EXACT [NCI2004_11_17:C6764] +xref: NCI:C6764 +xref: UMLS_CUI:C1333788 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:6553 +name: posterior foramen magnum meningioma +synonym: "meningioma of the Posterior Foramen Magnum" EXACT [NCI2004_11_17:C5282] +xref: NCI:C5282 +xref: UMLS_CUI:C1335449 +is_a: DOID:4708 ! foramen magnum meningioma + +[Term] +id: DOID:6554 +name: ovarian clear cell malignant adenofibroma +xref: NCI2009_04D:C40079 +is_a: DOID:2394 ! ovarian cancer + +[Term] +id: DOID:6556 +name: hamartoma of Spinal Cord +synonym: "hamartoma of the Spinal Cord" EXACT [NCI2004_11_17:C6815] +is_obsolete: true + +[Term] +id: DOID:6559 +name: ethmoid sinus Schneiderian papilloma +synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [NCI2004_11_17:C6836] +xref: NCI:C6836 +xref: UMLS_CUI:C1333476 +is_a: DOID:1364 ! ethmoidal sinus neoplasm + +[Term] +id: DOID:656 +name: adrenal adenoma +def: "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland." [url:http\://en.wikipedia.org/wiki/Adrenal_adenoma] +synonym: "adenoma of the Adrenal gland" EXACT [NCI2004_11_17:C3906] +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:6562 +name: ethmoid sinus inverted papilloma +synonym: "Inverted papilloma of the ethmoid sinus" EXACT [NCI2004_11_17:C6843] +xref: NCI:C6843 +xref: UMLS_CUI:C1333474 +is_a: DOID:1364 ! ethmoidal sinus neoplasm + +[Term] +id: DOID:6563 +name: metastatic testicular cancer +is_obsolete: true + +[Term] +id: DOID:6564 +name: neurilemmoma of the pleura +synonym: "Schwannoma of Pleura" EXACT [NCI2004_11_17:C5418] +xref: NCI:C5418 +xref: UMLS_CUI:C1335435 +is_a: DOID:956 ! peripheral nerve schwannoma + +[Term] +id: DOID:6566 +name: posterior uveal melanoma +alt_id: DOID:6746 +synonym: "medium/large size posterior uveal melanoma" EXACT [] +synonym: "small size posterior uveal melanoma" EXACT [] +xref: NCI:C9089 +xref: NCI:C9090 +xref: UMLS_CUI:C0278867 +xref: UMLS_CUI:C0278868 +is_a: DOID:6039 ! uveal melanoma + +[Term] +id: DOID:6567 +name: uterine corpus myxoid leiomyosarcoma +xref: NCI:C40175 +xref: UMLS_CUI:C1519861 +is_a: DOID:5289 ! uterus leiomyosarcoma + +[Term] +id: DOID:6569 +name: micropapillomatosis labialis +xref: NCI:C40290 +xref: UMLS_CUI:C1519982 +is_a: DOID:2071 ! vulvar squamous papilloma + +[Term] +id: DOID:657 +name: adenoma +alt_id: DOID:2655 +def: "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." [url:http\://coloncancer.about.com/od/glossaries/g/Adenoma.htm, url:http\://en.wikipedia.org/wiki/Adenoma] +synonym: "acinar cell adenoma" EXACT [] +synonym: "acinar cell adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:79041005] +synonym: "acinic cell adenoma" EXACT [NCI2004_11_17:C4196] +synonym: "adenoma" RELATED [CSP2005:2000-1015] +synonym: "adenomas" EXACT [SNOMEDCT_2005_07_31:189578007] +xref: MSH:D000236 +xref: NCI:C2855 +xref: NCI:C4196 +xref: SNOMEDCT_US_2015_03_01:189578007 +xref: SNOMEDCT_US_2015_03_01:189579004 +xref: SNOMEDCT_US_2015_03_01:32048006 +xref: SNOMEDCT_US_2015_03_01:443416007 +xref: SNOMEDCT_US_2015_03_01:79041005 +xref: UMLS_CUI:C0001430 +xref: UMLS_CUI:C0334389 +is_a: DOID:0060084 ! cell type benign neoplasm + +[Term] +id: DOID:6571 +name: non-invasive bladder urothelial carcinoma +is_a: DOID:4006 ! bladder transitional cell carcinoma + +[Term] +id: DOID:6573 +name: recurrent adult brain tumor +synonym: "relapsed tumor of adult brain" EXACT [NCI2004_11_17:C7884] +is_obsolete: true + +[Term] +id: DOID:6574 +name: Borderline malignancy papillary mucinous cystadenoma +synonym: "Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128853002] +synonym: "Papillary mucinous neoplasm of Low malignant Potential" EXACT [NCI2004_11_17:C4186] +is_obsolete: true + +[Term] +id: DOID:6575 +name: childhood optic tract astrocytoma +synonym: "pediatric visual pathway astrocytoma" EXACT [NCI2004_11_17:C7534] +xref: NCI:C7534 +xref: UMLS_CUI:C1333014 +is_a: DOID:4991 ! optic nerve astrocytoma + +[Term] +id: DOID:6576 +name: childhood optic nerve glioma +synonym: "glioma of the pediatric visual pathway" EXACT [NCI2004_11_17:C7535] +xref: MSH:D020339 +xref: NCI:C7535 +xref: UMLS_CUI:C0278653 +is_a: DOID:4992 ! optic nerve glioma + +[Term] +id: DOID:6577 +name: ovarian dermoid cyst with sebaceous adenoma +is_obsolete: true + +[Term] +id: DOID:6578 +name: ovarian dermoid cyst with secondary sebaceous tumor +is_obsolete: true + +[Term] +id: DOID:6579 +name: chest wall bone cancer +def: "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall." [url:http\://www.ncbi.nlm.nih.gov/pubmed/10451260] +synonym: "malignant bone neoplasm of chest wall" RELATED [] +synonym: "malignant bone tumor of the Chest Wall" EXACT [NCI2004_11_17:C6724] +xref: NCI:C6724 +xref: UMLS_CUI:C1334572 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:6581 +name: breast apocrine carcinoma +synonym: "apocrine carcinoma of breast" RELATED [] +synonym: "breast Apocrine carcinoma" EXACT [NCI2004_11_17:C5141] +xref: NCI:C5141 +xref: UMLS_CUI:C1332316 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:6585 +name: oncocytic breast carcinoma +xref: NCI:C40366 +xref: UMLS_CUI:C1518574 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:6587 +name: invasive tubular breast carcinoma +synonym: "Invasive tubular carcinoma of breast" EXACT [NCI2004_11_17:C9135] +synonym: "tubular carcinoma of breast" EXACT [] +xref: NCI:C9135 +xref: UMLS_CUI:C1328544 +is_a: DOID:3458 ! breast adenocarcinoma + +[Term] +id: DOID:6590 +name: spondylitis +xref: ICD10CM:M46 +xref: ICD9CM:720.8 +xref: ICD9CM:720.89 +xref: SNOMEDCT_US_2015_03_01:202651004 +xref: SNOMEDCT_US_2015_03_01:202653001 +xref: UMLS_CUI:C0029644 +is_a: DOID:1123 ! spondyloarthropathy + +[Term] +id: DOID:6594 +name: bladder colonic type adenocarcinoma +xref: NCI:C39835 +xref: UMLS_CUI:C1511188 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:6595 +name: gastric tubular adenocarcinoma +synonym: "tubular adenocarcinoma of stomach" EXACT [NCI2004_11_17:C5473] +xref: NCI:C5473 +xref: UMLS_CUI:C1333791 +is_a: DOID:3717 ! gastric adenocarcinoma + +[Term] +id: DOID:66 +name: muscle tissue disease +is_a: DOID:0080000 ! muscular disease + +[Term] +id: DOID:660 +name: adrenal cortex cancer +alt_id: DOID:3949 +synonym: "Adrenal cortical tumors NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189648009] +synonym: "malignant Adrenocortical tumor" EXACT [NCI2004_11_17:C9327] +synonym: "malignant neoplasm of adrenal cortex" EXACT [] +synonym: "malignant tumour of adrenal cortex" EXACT [SNOMEDCT_2005_07_31:93664009] +synonym: "neoplasm of adrenal cortex (disorder)" EXACT [SNOMEDCT_2005_07_31:127022002] +xref: ICD10CM:C74.0 +xref: MSH:D000306 +xref: NCI:C2858 +xref: NCI:C9327 +xref: SNOMEDCT_US_2015_03_01:127022002 +xref: SNOMEDCT_US_2015_03_01:18365006 +xref: SNOMEDCT_US_2015_03_01:189645007 +xref: SNOMEDCT_US_2015_03_01:189648009 +xref: SNOMEDCT_US_2015_03_01:2227007 +xref: SNOMEDCT_US_2015_03_01:363479004 +xref: SNOMEDCT_US_2015_03_01:371964008 +xref: SNOMEDCT_US_2015_03_01:93664009 +xref: UMLS_CUI:C0001618 +xref: UMLS_CUI:C0346402 +is_a: DOID:3953 ! adrenal gland cancer + +[Term] +id: DOID:6602 +name: recurrent malignant peritoneal mesothelioma +synonym: "relapsed malignant Mesothelioma of Peritoneum" EXACT [NCI2004_11_17:C8705] +is_obsolete: true + +[Term] +id: DOID:6603 +name: Kummell's disease +synonym: "Kummell disease" EXACT [] +synonym: "Kummell's spondylitis" EXACT [SNOMEDCT_2005_07_31:65753008] +synonym: "Traumatic spondylopathy" EXACT [ICD9CM_2006:721.7] +xref: ICD10CM:M48.3 +xref: ICD9CM:721.7 +xref: SNOMEDCT_US_2015_03_01:111232005 +xref: SNOMEDCT_US_2015_03_01:156628006 +xref: SNOMEDCT_US_2015_03_01:202682000 +xref: SNOMEDCT_US_2015_03_01:240218006 +xref: SNOMEDCT_US_2015_03_01:268075001 +xref: SNOMEDCT_US_2015_03_01:65753008 +xref: UMLS_CUI:C0152088 +is_a: DOID:1123 ! spondyloarthropathy + +[Term] +id: DOID:6604 +name: spondylosis and allied disorder +alt_id: DOID:12870 +alt_id: DOID:12871 +alt_id: DOID:8595 +synonym: "cervical spondylosis with myelopathy" EXACT [] +synonym: "cervical spondylosis with myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:65260001] +synonym: "cervical spondylosis without myelopathy" EXACT [] +synonym: "cervical spondylosis without myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:267970006] +synonym: "Dorsal spondylosis without myelopathy" EXACT [] +synonym: "Spondylogenic compression of cervical spinal cord" EXACT [MTHICD9_2006:721.1] +synonym: "Thoracic spondylosis without myelopathy" EXACT [ICD9CM_2006:721.2, SNOMEDCT_2005_07_31:123797007, SNOMEDCT_2005_07_31:202665002, SNOMEDCT_2005_07_31:202669008, SNOMEDCT_2005_07_31:39386008] +synonym: "Thoracic spondylosis without myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:267971005] +is_obsolete: true + +[Term] +id: DOID:6605 +name: classic variant of chromophobe renal cell carcinoma +xref: NCI:C27888 +xref: UMLS_CUI:C1333062 +is_a: DOID:4471 ! chromophobe adenocarcinoma + +[Term] +id: DOID:6606 +name: eosinophilic variant of chromophobe renal cell carcinoma +xref: NCI:C27889 +xref: UMLS_CUI:C1333405 +is_a: DOID:4471 ! chromophobe adenocarcinoma + +[Term] +id: DOID:6607 +name: nervous system hibernoma +synonym: "Hibernoma of nervous system" EXACT [NCI2004_11_17:C6997] +is_a: DOID:3093 ! nervous system cancer + +[Term] +id: DOID:6608 +name: endobronchial leiomyoma +xref: NCI:C5661 +xref: UMLS_CUI:C1333386 +is_a: DOID:5136 ! lung leiomyoma + +[Term] +id: DOID:6609 +name: basaloid squamous cell carcinoma of the head and neck +synonym: "Basaloid squamous cell carcinoma of head and neck" EXACT [NCI2004_11_17:C37290] +is_obsolete: true + +[Term] +id: DOID:6610 +name: bone epithelioid hemangioma +alt_id: DOID:487 +synonym: "bone hemangioma" EXACT [] +synonym: "hemangioma of bone" EXACT [] +synonym: "osseous epithelioid hemangioma" EXACT [NCI2004_11_17:C5396] +synonym: "osseous hemangioma" EXACT [NCI2004_11_17:C6477] +xref: NCI:C5396 +xref: NCI:C6477 +xref: UMLS_CUI:C1332575 +xref: UMLS_CUI:C1332578 +is_a: DOID:0060094 ! bone benign neoplasm + +[Term] +id: DOID:6612 +name: leukocyte adhesion deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital leukocyte adherence deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:77358003] +xref: NCI:C27874 +xref: OMIM:116920 +xref: OMIM:266265 +xref: OMIM:612840 +xref: SNOMEDCT_US_2015_03_01:77358003 +xref: UMLS_CUI:C0272187 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:6613 +name: vaginal villous adenoma +xref: NCI:C40259 +xref: UMLS_CUI:C1519936 +is_a: DOID:5402 ! vaginal adenoma + +[Term] +id: DOID:6618 +name: unknown primary adenocarcinoma +synonym: "adenocarcinoma of unknown primary" RELATED [] +is_obsolete: true + +[Term] +id: DOID:6620 +name: X-linked hyper IgM syndrome +synonym: "hyperimmunoglobulin M syndrome" EXACT [NCI2004_11_17:C3990] +synonym: "hyperimmunoglobulin M syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:82286005] +xref: MSH:D053306 +xref: NCI:C3990 +xref: NCI:C84783 +xref: SNOMEDCT_US_2015_03_01:82286005 +xref: UMLS_CUI:C0272236 +is_a: DOID:2959 ! hyperimmunoglobulin syndrome + +[Term] +id: DOID:6621 +name: cerebral angioma +synonym: "hemangioma of Cerebrum" EXACT [NCI2004_11_17:C5433] +xref: NCI:C5433 +xref: UMLS_CUI:C0877388 +is_a: DOID:5393 ! brain angioma + +[Term] +id: DOID:6627 +name: cervical adenoma malignum +xref: NCI:C40206 +xref: UMLS_CUI:C1516423 +is_a: DOID:3701 ! cervical mucinous adenocarcinoma + +[Term] +id: DOID:6628 +name: malignant neoplasm of nipple +synonym: "malignant tumor of Nipple" EXACT [NCI2004_11_17:C5213] +is_obsolete: true + +[Term] +id: DOID:6629 +name: nipple carcinoma +def: "A breast carcinoma that is located_in the nipple." [url:http\://www.cancer.gov/dictionary?CdrID=45963] +xref: NCI:C28432 +xref: UMLS_CUI:C1334966 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:663 +name: scrotal angioma +synonym: "hemangioma of scrotum" EXACT [NCI2004_11_17:C6387] +xref: NCI:C6387 +xref: UMLS_CUI:C1335936 +is_a: DOID:471 ! skin hemangioma + +[Term] +id: DOID:6630 +name: ovarian dermoid cyst with secondary sarcoma +is_obsolete: true + +[Term] +id: DOID:6631 +name: ovarian dermoid cyst with leiomyosarcoma +is_obsolete: true + +[Term] +id: DOID:6632 +name: ovarian dermoid cyst with angiosarcoma +is_obsolete: true + +[Term] +id: DOID:6634 +name: adult central nervous system choriocarcinoma +synonym: "Choriocarcinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5793] +xref: NCI:C5793 +xref: UMLS_CUI:C1370505 +is_a: DOID:3594 ! choriocarcinoma + +[Term] +id: DOID:6639 +name: pediatric CNS choriocarcinoma +synonym: "Choriocarcinoma of the pediatric central nervous system" EXACT [NCI2004_11_17:C6206] +xref: NCI:C6206 +xref: UMLS_CUI:C1377604 +is_a: DOID:6052 ! central nervous system childhood germ cell tumor + +[Term] +id: DOID:664 +name: angiokeratoma of Fordyce +synonym: "Angiokeratoma of Fordyce (disorder)" EXACT [SNOMEDCT_2005_07_31:6331000] +synonym: "Fordyce angiokeratoma" EXACT [SNOMEDCT_2005_07_31:254789007] +synonym: "Fordyce's spot" EXACT [] +synonym: "Fordyce-type Angiokeratoma of scrotum" EXACT [NCI2004_11_17:C7752] +xref: NCI:C7752 +xref: SNOMEDCT_US_2015_03_01:238747004 +xref: SNOMEDCT_US_2015_03_01:254789007 +xref: SNOMEDCT_US_2015_03_01:6331000 +xref: UMLS_CUI:C0263639 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:6641 +name: breast juvenile papillomatosis +synonym: "Juvenile papillomatosis of the breast" EXACT [NCI2004_11_17:C9503] +xref: NCI:C9503 +xref: SNOMEDCT_US_2015_03_01:708518001 +xref: UMLS_CUI:C1334303 +is_a: DOID:1634 ! breast papillomatosis + +[Term] +id: DOID:6643 +name: Baastrup's syndrome +synonym: "Baastrup syndrome" EXACT [] +synonym: "Kissing spine" EXACT [ICD9CM_2006:721.5] +synonym: "Kissing spine (disorder)" EXACT [SNOMEDCT_2005_07_31:82304009] +xref: ICD10CM:M48.2 +xref: ICD10CM:M48.20 +xref: ICD9CM:721.5 +xref: SNOMEDCT_US_2015_03_01:202681007 +xref: SNOMEDCT_US_2015_03_01:82304009 +xref: UMLS_CUI:C0158248 +is_a: DOID:1123 ! spondyloarthropathy + +[Term] +id: DOID:6648 +name: adult pineoblastoma +xref: NCI:C8292 +xref: UMLS_CUI:C0281332 +is_a: DOID:5031 ! adult pineal parenchymal tumor + +[Term] +id: DOID:6652 +name: diffuse idiopathic skeletal hyperostosis +def: "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." [url:http\://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Ankylosing vertebral hyperostosis" EXACT [SNOMEDCT_2005_07_31:55815007] +synonym: "Ankylosing vertebral hyperostosis" EXACT [ICD9CM_2006:721.6] +synonym: "DISH" EXACT [] +synonym: "Disseminated idiopathic skeletal hyperostosis (disorder)" EXACT [SNOMEDCT_2005_07_31:31487001] +synonym: "Forestier disease" RELATED [] +xref: ICD10CM:M48.1 +xref: ICD9CM:721.6 +xref: MSH:D004057 +xref: NCI:C84671 +xref: OMIM:106400 +xref: SNOMEDCT_US_2015_03_01:31487001 +xref: SNOMEDCT_US_2015_03_01:55815007 +xref: UMLS_CUI:C0020498 +is_a: DOID:182 ! calcinosis + +[Term] +id: DOID:6654 +name: childhood central nervous system immature teratoma +xref: NCI:C27405 +xref: UMLS_CUI:C1332954 +is_a: DOID:6019 ! central nervous system immature teratoma + +[Term] +id: DOID:6657 +name: breast large cell neuroendocrine carcinoma +xref: NCI:C40356 +xref: UMLS_CUI:C1511316 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:6658 +name: pulmonary large cell neuroendocrine carcinoma +alt_id: DOID:5721 +xref: NCI:C5672 +xref: NCI:C6875 +xref: SNOMEDCT_US_2015_03_01:128628002 +xref: UMLS_CUI:C1265996 +xref: UMLS_CUI:C1334363 +is_a: DOID:4556 ! lung large cell carcinoma + +[Term] +id: DOID:6659 +name: cervical large cell neuroendocrine carcinoma +xref: NCI:C40214 +xref: UMLS_CUI:C1516417 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:6663 +name: papillotubular adenocarcinoma +synonym: "adenocarcinoma in Tubulovillous adenoma" EXACT [NCI2004_11_17:C4145] +synonym: "adenocarcinoma in tubulovillous adenoma" EXACT [SNOMEDCT_2005_07_31:189583004] +synonym: "Tubulopapillary adenocarcinoma" EXACT [SNOMEDCT_2005_07_31:5658009] +is_obsolete: true + +[Term] +id: DOID:6667 +name: regressing nevus +synonym: "regressing naevus" EXACT [SNOMEDCT_2005_07_31:78325005] +synonym: "regressing naevus" EXACT [SNOMEDCT_2005_07_31:307602007] +is_obsolete: true + +[Term] +id: DOID:6675 +name: menopausal syndrome +synonym: "Menopausal syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:123756000] +synonym: "MENOPAUSE SYNDROME" EXACT [MTH:479] +is_obsolete: true + +[Term] +id: DOID:6676 +name: Froelich's syndrome +def: "A syndrome characterized by a combination of obesity, retarded development of the sex glands, and changes in secondary sex characteristics that results from impaired function or disease of the pituitary gland and hypothalamus." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adiposogenital%20dystrophy] +synonym: "Adiposogenital dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:62999006] +synonym: "Babinski-Froelich Syndrome " EXACT [] +synonym: "Froehlich's syndrome" EXACT [] +synonym: "Froelich syndrome" EXACT [] +synonym: "Frohlich's syndrome" EXACT [NCI2004_11_17:C34625] +xref: ICD10CM:E23.6 +xref: MSH:D007027 +xref: NCI:C34625 +xref: SNOMEDCT_US_2015_03_01:62999006 +xref: UMLS_CUI:C0016724 +is_a: DOID:1931 ! hypothalamic disease + +[Term] +id: DOID:6677 +name: diffuse infiltrative lymphocytosis syndrome +def: "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells." [url:http\://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/21295898] +comment: No OMIM mapping, confirmed by DO. [LS]. +xref: NCI:C35699 +xref: SNOMEDCT:449784008 +xref: SNOMEDCT_US_2015_03_01:449784008 +xref: UMLS_CUI:C1333292 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:6678 +name: tooth and nail syndrome +def: "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [MTH:NOCODE] +synonym: "Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:400036004] +synonym: "Tooth and Nail syndrome" EXACT [NCI2004_11_17:C40553] +synonym: "Witkop's syndrome" EXACT [SNOMEDCT_2005_07_31:239039003] +synonym: "Witkop's syndrome" EXACT [SNOMEDCT_2005_07_31:68897000] +xref: MSH:C536736 +xref: NCI:C40553 +xref: OMIM:189500 +xref: SNOMEDCT_US_2015_03_01:239039003 +xref: SNOMEDCT_US_2015_03_01:400036004 +xref: SNOMEDCT_US_2015_03_01:68897000 +xref: UMLS_CUI:C0406735 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:668 +name: myositis ossificans +def: "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles." [url:http\://en.wikipedia.org/wiki/Myositis_ossificans, url:http\://www.merriam-webster.com/medlineplus/myositis] +synonym: "Myisitis ossificans" EXACT [MTHICD9_2006:728.12] +synonym: "Ossification - muscle" EXACT [SNOMEDCT_2005_07_31:203030008] +xref: MSH:D009221 +xref: NCI:C3253 +xref: SNOMEDCT_US_2015_03_01:156720008 +xref: SNOMEDCT_US_2015_03_01:203030008 +xref: SNOMEDCT_US_2015_03_01:44551007 +xref: UMLS_CUI:C0027122 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:6680 +name: Capgras syndrome +def: "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor." [url:http\://en.wikipedia.org/wiki/Capgras_delusion] +synonym: "Capgras delusion theory" EXACT [] +xref: MSH:D002194 +xref: NCI:C34446 +xref: SNOMEDCT_US_2015_03_01:44906001 +xref: UMLS_CUI:C0006895 +is_a: DOID:778 ! delusional disorder + +[Term] +id: DOID:6681 +name: diffuse leiomyomatosis syndrome +comment: No OMIM mapping, confirmed by DO. [LS]. +is_obsolete: true + +[Term] +id: DOID:6682 +name: spondylolisthesis +def: "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." [url:http\://en.wikipedia.org/wiki/Spondylolisthesis, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.medicinenet.com/spondylolisthesis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001260.htm, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] +xref: ICD10CM:M43.1 +xref: ICD10CM:M43.10 +xref: MSH:D013168 +xref: NCI:C35033 +xref: OMIM:184200 +xref: SNOMEDCT_US_2015_03_01:157003009 +xref: SNOMEDCT_US_2015_03_01:268349005 +xref: SNOMEDCT_US_2015_03_01:274152003 +xref: UMLS_CUI:C0038016 +is_a: DOID:0080010 ! bone structure disease + +[Term] +id: DOID:6683 +name: Aarskog-Scott syndrome +def: "A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Aarskog syndrome" EXACT [] +synonym: "Aarskog syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:14921002] +synonym: "Aarskog syndrome [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205809002] +synonym: "FACIOGENITAL DYSPLASIA" EXACT [] +synonym: "Greig's syndrome" EXACT [CSP2005:0725-9662] +synonym: "Greig's syndrome" EXACT [NCI2004_11_17:C35255] +xref: ICD10CM:Q87.1 +xref: MSH:C535331 +xref: OMIM:100050 +xref: OMIM:305400 +xref: SNOMEDCT_US_2015_03_01:14921002 +xref: SNOMEDCT_US_2015_03_01:205809002 +xref: UMLS_CUI:C0175701 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:6686 +name: Achard syndrome +def: "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet." [url:http\://en.wikipedia.org/wiki/Achard_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:C536012 +xref: NCI:C35809 +xref: OMIM:100700 +xref: UMLS_CUI:C1332135 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:6687 +name: Achenbach syndrome +synonym: "Paroxysmal hematoma of the finger (disorder)" EXACT [SNOMEDCT_2005_07_31:238824006] +xref: NCI:C35467 +xref: SNOMEDCT_US_2015_03_01:238824006 +xref: UMLS_CUI:C0473563 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:6688 +name: autoimmune lymphoproliferative syndrome +def: "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen." [url:http\://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [CSP2005:0427-1178] +synonym: "Canale-Smith syndrome" EXACT [] +xref: CSP:1560-5548 +xref: ICD10CM:D89.82 +xref: ICD9CM:279.41 +xref: MSH:D056735 +xref: NCI:C37864 +xref: OMIM:601859 +xref: OMIM:603909 +xref: OMIM:607271 +xref: OMIM:614470 +xref: ORDO:3261 +xref: SNOMEDCT_US_2015_03_01:702444009 +xref: UMLS_CUI:C1328840 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:6689 +name: adherence syndrome +synonym: "Fat adherence syndrome of extraocular muscle (disorder)" EXACT [SNOMEDCT_2005_07_31:416236009] +is_obsolete: true + +[Term] +id: DOID:6690 +name: acroparesthesia syndrome +is_obsolete: true + +[Term] +id: DOID:6691 +name: Aagenaes syndrome +def: "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts." [url:http\://en.wikipedia.org/wiki/Aagenaes_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cholestasis-edema syndrome, Norwegian type (disorder)" EXACT [SNOMEDCT_2005_07_31:28724005] +xref: MSH:C535330 +xref: NCI:C35709 +xref: OMIM:214900 +xref: ORDO:1414 +xref: SNOMEDCT_US_2015_03_01:28724005 +xref: UMLS_CUI:C0268314 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:6692 +name: Barre-Lieou syndrome +def: "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/] +comment: No OMIM mapping confirmed by DO. [SN]. +synonym: "Cervicocranial syndrome" EXACT [ICD9CM_2006:723.2] +synonym: "Cervicocranial syndrome" EXACT [NCI2004_11_17:C34411] +synonym: "Cervicocranial syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:17300000] +synonym: "Posterior cervical sympathetic syndrome" EXACT [MTHICD9_2006:723.2] +xref: ICD10CM:M53.0 +xref: MSH:D055010 +xref: NCI:C34411 +xref: SNOMEDCT_US_2015_03_01:17300000 +xref: UMLS_CUI:C0376378 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:6693 +name: testicular monophasic choriocarcinoma +xref: NCI:C39935 +xref: UMLS_CUI:C1515290 +is_a: DOID:5551 ! choriocarcinoma of the testis + +[Term] +id: DOID:6696 +name: synchronous multifocal osteogenic sarcoma +xref: NCI:C6471 +xref: UMLS_CUI:C1336544 +is_a: DOID:3360 ! multifocal osteogenic sarcoma + +[Term] +id: DOID:6697 +name: asynchronous multifocal osteogenic sarcoma +xref: NCI:C6472 +xref: UMLS_CUI:C1332342 +is_a: DOID:3360 ! multifocal osteogenic sarcoma + +[Term] +id: DOID:67 +name: neural tissue disease +synonym: "nervous tissue disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:670 +name: amphetamine abuse +alt_id: DOID:12067 +alt_id: DOID:14436 +alt_id: DOID:669 +def: "A substance abuse that involves the recurring use of amphetamines despite negative consequences." [url:http\://en.wikipedia.org/wiki/Amphetamine_Abuse] +xref: ICD9CM:305.7 +xref: UMLS_CUI:C0154536 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:6700 +name: gastric fundus carcinoma +synonym: "cancer of Fundus of stomach" EXACT [NCI2004_11_17:C8398] +synonym: "carcinoma of fundus of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:254555008] +xref: NCI:C8398 +xref: SNOMEDCT_US_2015_03_01:254555008 +xref: UMLS_CUI:C0345799 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:6702 +name: recurrent stomach cancer +synonym: "recurrent carcinoma of the stomach" EXACT [NCI2004_11_17:C9237] +synonym: "recurrent gastric cancer" EXACT [MTH:NOCODE] +is_obsolete: true + +[Term] +id: DOID:6703 +name: gastric pylorus carcinoma +synonym: "carcinoma of Pylorus of stomach" EXACT [NCI2004_11_17:C6795] +xref: NCI:C6795 +xref: UMLS_CUI:C1333787 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:6704 +name: anaplastic gastric carcinoma +synonym: "Undifferentiated carcinoma of stomach" EXACT [NCI2004_11_17:C5476] +is_obsolete: true + +[Term] +id: DOID:6705 +name: gastric body carcinoma +synonym: "cancer of body of stomach" EXACT [NCI2004_11_17:C8399] +synonym: "carcinoma of body of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:254557000] +xref: NCI:C8399 +xref: SNOMEDCT_US_2015_03_01:254557000 +xref: UMLS_CUI:C0345804 +is_a: DOID:5517 ! stomach carcinoma + +[Term] +id: DOID:6706 +name: tubular variant testicular seminoma +xref: NCI:C40959 +xref: UMLS_CUI:C1515294 +is_a: DOID:5842 ! testis seminoma + +[Term] +id: DOID:6707 +name: malignant triton tumor +synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [] +synonym: "malignant Triton tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:404040002] +synonym: "malignant Triton tumour" EXACT [SNOMEDCT_2005_07_31:189951004] +synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [SNOMEDCT_2005_07_31:354002] +synonym: "MPNST with Rhabdomyosarcoma" EXACT [NCI2004_11_17:C4335] +xref: NCI:C4335 +xref: SNOMEDCT_US_2015_03_01:189951004 +xref: SNOMEDCT_US_2015_03_01:354002 +xref: SNOMEDCT_US_2015_03_01:404040002 +xref: UMLS_CUI:C0334616 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:6708 +name: recurrent ovarian epithelial cancer +synonym: "relapsed carcinoma of Ovary" EXACT [NCI2004_11_17:C7833] +is_obsolete: true + +[Term] +id: DOID:6710 +name: metastatic anal cancer +synonym: "secondary carcinoma from the anus" EXACT [NCI2004_11_17:C5612] +is_obsolete: true + +[Term] +id: DOID:6712 +name: anterior spinal artery syndrome +synonym: "Anterior spinal artery occlusion syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:2972007] +xref: MSH:D020759 +xref: SNOMEDCT_US_2015_03_01:2972007 +xref: UMLS_CUI:C0221069 +is_a: DOID:6713 ! cerebrovascular disease + +[Term] +id: DOID:6713 +name: cerebrovascular disease +alt_id: DOID:12214 +alt_id: DOID:3455 +alt_id: DOID:8231 +def: "An artery disease that is characterized by dysfunction of the blood vessels supplying the brain." [url:http\://en.wikipedia.org/wiki/Cerebrovascular_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK378/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "cerebrovascular accident" EXACT [] +synonym: "Cerebrovascular accident (disorder)" EXACT [SNOMEDCT_2005_07_31:230690007] +synonym: "cerebrovascular disorder" EXACT [] +synonym: "CVA (cerebral vascular accident)" EXACT [CSP2005:0617-5539] +synonym: "stroke" EXACT [] +xref: EFO:0000712 +xref: ICD10CM:I60-I69 +xref: ICD10CM:I63.9 +xref: ICD10CM:I67.9 +xref: ICD9CM:430-438.99 +xref: ICD9CM:437.9 +xref: MSH:D002561 +xref: MSH:D020521 +xref: NCI:C2938 +xref: NCI:C3390 +xref: OMIM:601367 +xref: SNOMEDCT_US_2015_03_01:155388006 +xref: SNOMEDCT_US_2015_03_01:155405006 +xref: SNOMEDCT_US_2015_03_01:155412002 +xref: SNOMEDCT_US_2015_03_01:195208004 +xref: SNOMEDCT_US_2015_03_01:195249004 +xref: SNOMEDCT_US_2015_03_01:195595007 +xref: SNOMEDCT_US_2015_03_01:230690007 +xref: SNOMEDCT_US_2015_03_01:266312006 +xref: SNOMEDCT_US_2015_03_01:266315008 +xref: SNOMEDCT_US_2015_03_01:270883006 +xref: SNOMEDCT_US_2015_03_01:313267000 +xref: SNOMEDCT_US_2015_03_01:62914000 +xref: SNOMEDCT_US_2015_03_01:82797006 +xref: UMLS_CUI:C0007820 +xref: UMLS_CUI:C0038454 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:6714 +name: circumscribed storiform collagenoma +synonym: "Circumscribed Storiform Collagenoma" EXACT [NCI2004_11_17:C4706] +synonym: "Circumscribed storiform collagenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:239137003] +is_obsolete: true + +[Term] +id: DOID:6715 +name: collagen nevus of skin +synonym: "Collagen hamartoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:44133001] +synonym: "Collagen naevus" EXACT [SNOMEDCT_2005_07_31:19291000] +synonym: "Collagen nevus" EXACT [NCI2004_11_17:C8371] +synonym: "Collagen nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:399926001] +is_obsolete: true + +[Term] +id: DOID:6716 +name: eruptive collagenoma +synonym: "Eruptive collagenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:239138008] +is_obsolete: true + +[Term] +id: DOID:672 +name: spleen cancer +alt_id: DOID:671 +def: "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." [url:http\://www.wrongdiagnosis.com/s/spleen_cancer/intro.htm] +synonym: "malignant Splenic tumor" EXACT [NCI2004_11_17:C3539] +synonym: "malignant tumour of spleen" EXACT [SNOMEDCT_2005_07_31:254616004] +synonym: "spleen neoplasm" EXACT [CSP2005:2004-6589] +synonym: "Splenic neoplasm" EXACT [NCI2004_11_17:C3383] +xref: ICD10CM:C26.1 +xref: MSH:D013160 +xref: NCI:C3383 +xref: NCI:C3539 +xref: SNOMEDCT_US_2015_03_01:127230005 +xref: SNOMEDCT_US_2015_03_01:187823003 +xref: SNOMEDCT_US_2015_03_01:254616004 +xref: SNOMEDCT_US_2015_03_01:363499005 +xref: SNOMEDCT_US_2015_03_01:94071006 +xref: UMLS_CUI:C0037999 +xref: UMLS_CUI:C0153470 +is_a: DOID:0060073 ! lymphatic system cancer + +[Term] +id: DOID:6721 +name: littre gland carcinoma +def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands." [url:http\://en.wikipedia.org/wiki/Urethral_gland] +xref: NCI:C39865 +xref: UMLS_CUI:C1516285 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:6723 +name: malignant type AB thymoma +synonym: "Thymoma, mixed type, malignant" EXACT [SNOMEDCT_2005_07_31:128710005] +xref: NCI:C6886 +xref: SNOMEDCT_US_2015_03_01:128710005 +xref: UMLS_CUI:C1266093 +is_a: DOID:3280 ! mixed type thymoma + +[Term] +id: DOID:6725 +name: spinal stenosis +alt_id: DOID:10097 +alt_id: DOID:12235 +def: "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." [url:http\://en.wikipedia.org/wiki/Spinal_stenosis, url:http\://www.mayoclinic.com/health/spinal-stenosis/DS00515, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000441.htm, url:http\://www.spinalstenosis.org/] +synonym: "cervical spinal stenosis" EXACT [] +synonym: "lumbar spinal stenosis" EXACT [] +synonym: "Spinal stenosis of lumbar region" EXACT [ICD9CM_2006:724.02] +xref: ICD10CM:M48.0 +xref: ICD10CM:M48.00 +xref: ICD10CM:M48.02 +xref: ICD10CM:M48.06 +xref: ICD9CM:723.0 +xref: ICD9CM:724.00 +xref: MSH:D013130 +xref: SNOMEDCT_US_2015_03_01:156640006 +xref: SNOMEDCT_US_2015_03_01:156646000 +xref: SNOMEDCT_US_2015_03_01:18347007 +xref: SNOMEDCT_US_2015_03_01:202780000 +xref: SNOMEDCT_US_2015_03_01:202781001 +xref: SNOMEDCT_US_2015_03_01:202791007 +xref: SNOMEDCT_US_2015_03_01:268082002 +xref: SNOMEDCT_US_2015_03_01:76107001 +xref: SNOMEDCT_US_2015_03_01:83561009 +xref: UMLS_CUI:C0037944 +xref: UMLS_CUI:C0158280 +xref: UMLS_CUI:C0158288 +is_a: DOID:0080007 ! bone deterioration disease + +[Term] +id: DOID:6726 +name: fibrillary astrocytoma +def: "An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes." [url:http\://en.wikipedia.org/wiki/Fibrillary_astrocytoma, url:http\://www.braintumour.ca/4877/diffuse-astrocytoma-/-fibrillary-astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45602] +subset: DO_cancer_slim +synonym: "diffuse astrocytoma" EXACT [] +synonym: "Fibrillary Astrocytic tumors" EXACT [NCI2004_11_17:C4322] +xref: MSH:D001254 +xref: NCI:C4322 +xref: SNOMEDCT_US_2015_03_01:253063006 +xref: SNOMEDCT_US_2015_03_01:71314006 +xref: UMLS_CUI:C0334582 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:6727 +name: colon small cell carcinoma +synonym: "Colonic small cell carcinoma" EXACT [NCI2004_11_17:C6761] +xref: NCI:C6761 +xref: UMLS_CUI:C1333099 +is_a: DOID:1520 ! colon carcinoma + +[Term] +id: DOID:6728 +name: recurrent pediatric optic nerve astrocytoma +is_obsolete: true + +[Term] +id: DOID:6729 +name: recurrent pediatric optic nerve glioma +is_obsolete: true + +[Term] +id: DOID:6730 +name: recurrent childhood optic tract astrocytoma +synonym: "recurrent pediatric visual pathway astrocytoma" EXACT [NCI2004_11_17:C7530] +is_obsolete: true + +[Term] +id: DOID:6731 +name: recurrent glioma of childhood visual pathway +synonym: "relapsed glioma of the pediatric visual pathway" EXACT [NCI2004_11_17:C7529] +is_obsolete: true + +[Term] +id: DOID:6733 +name: intrahepatic bile duct cystadenoma +synonym: "Cystadenoma of the Intrahepatic bile duct" EXACT [NCI2004_11_17:C7127] +xref: NCI:C96835 +xref: UMLS_CUI:C1334257 +is_a: DOID:5384 ! bile duct cystadenoma + +[Term] +id: DOID:6735 +name: schwannoma of jugular foramen +synonym: "Neurilemmoma of Jugular Foramen" EXACT [NCI2004_11_17:C5323] +xref: NCI:C5323 +xref: UMLS_CUI:C1334300 +is_a: DOID:956 ! peripheral nerve schwannoma + +[Term] +id: DOID:674 +name: cleft palate +def: "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate." [url:http\://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate, url:http\://ghr.nlm.nih.gov/glossary=cleftpalate] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "cleft velum" EXACT [] +synonym: "Palatoschisis" EXACT [SNOMEDCT_2005_07_31:253986002] +synonym: "Uranostaphyloschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:63567004] +xref: ICD10CM:Q35 +xref: ICD10CM:Q35.9 +xref: ICD9CM:749.0 +xref: ICD9CM:749.00 +xref: MSH:D002972 +xref: NCI:C87069 +xref: OMIM:119540 +xref: OMIM:119570 +xref: ORDO:99772 +xref: SNOMEDCT_US_2015_03_01:156940009 +xref: SNOMEDCT_US_2015_03_01:204593009 +xref: SNOMEDCT_US_2015_03_01:204605001 +xref: SNOMEDCT_US_2015_03_01:253986002 +xref: SNOMEDCT_US_2015_03_01:268196005 +xref: SNOMEDCT_US_2015_03_01:87979003 +xref: UMLS_CUI:C0008925 +is_a: DOID:0050567 ! orofacial cleft + +[Term] +id: DOID:6740 +name: cervix small cell carcinoma +synonym: "small cell carcinoma of the cervix" RELATED [] +synonym: "small cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C7982] +xref: NCI:C7982 +xref: UMLS_CUI:C0279674 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:6741 +name: bilateral breast cancer +def: "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times." [url:http\://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html] +synonym: "Bilateral breast carcinoma" EXACT [NCI2004_11_17:C8287] +xref: NCI:C8287 +xref: UMLS_CUI:C0281267 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:6742 +name: synchronous bilateral breast carcinoma +xref: NCI:C40370 +xref: UMLS_CUI:C1515107 +is_a: DOID:6741 ! bilateral breast cancer + +[Term] +id: DOID:6750 +name: malignant fibrous histiocytoma recurrent +synonym: "relapsed malignant fibrous Histiocytoma" EXACT [NCI2004_11_17:C8795] +is_obsolete: true + +[Term] +id: DOID:6752 +name: internal auditory canal lipoma +synonym: "Lipoma of the Internal Auditory canal" EXACT [NCI2004_11_17:C5452] +xref: NCI:C5452 +xref: UMLS_CUI:C1334226 +is_a: DOID:833 ! auditory system cancer + +[Term] +id: DOID:6755 +name: amyloid tumor +synonym: "Amyloid neoplasm" EXACT [NCI2004_11_17:C8323] +synonym: "Amyloid tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:37279009] +xref: SNOMEDCT_US_2015_03_01:37279009 +xref: UMLS_CUI:C0333572 +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:6758 +name: chest wall lymphoma +alt_id: DOID:3724 +def: "A thoracic cancer that is located_in the chest wall." [url:http\://en.wikipedia.org/wiki/Chest_wall] +synonym: "chest wall cancer" EXACT [] +synonym: "lymphoma of chest wall" EXACT [] +synonym: "Lymphoma of the Chest Wall" EXACT [NCI2004_11_17:C6712] +synonym: "malignant neoplasm of chest wall" EXACT [SNOMEDCT_2005_07_31:93754006] +synonym: "malignant neoplasm of chest wall NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188363005] +synonym: "malignant tumor of Chest Wall" EXACT [NCI2004_11_17:C4580] +xref: NCI:C4580 +xref: NCI:C6712 +xref: SNOMEDCT_US_2015_03_01:188363005 +xref: SNOMEDCT_US_2015_03_01:93754006 +xref: UMLS_CUI:C0346948 +xref: UMLS_CUI:C1332933 +is_a: DOID:5093 ! thoracic cancer + +[Term] +id: DOID:6759 +name: bone lymphoma +def: "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone." [url:http\://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm, url:http\://www.lymphomainfo.net/nhl/types/bone.html] +synonym: "lymphoma of bone" EXACT [] +synonym: "Lymphoma of the bone" EXACT [NCI2004_11_17:C6620] +xref: NCI:C6620 +xref: UMLS_CUI:C1332582 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:676 +name: juvenile rheumatoid arthritis +alt_id: DOID:10129 +alt_id: DOID:1264 +alt_id: DOID:675 +def: "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint." [url:http\://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000451.htm, url:http\://www.umm.edu/ency/article/000451.htm] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "acute juvenile rheumatoid arthritis" EXACT [] +synonym: "juvenile chronic polyarthritis" EXACT [] +synonym: "juvenile idiopathic arthritis" EXACT [] +synonym: "monarticular juvenile rheumatoid arthritis" EXACT [] +synonym: "pauciarticular juvenile arthritis" EXACT [] +synonym: "Pauciarticular onset juvenile chronic arthritis" EXACT [SNOMEDCT_2005_07_31:201809006] +synonym: "systemic juvenile rheumatoid arthritis" EXACT [] +xref: ICD10CM:M08.4 +xref: ICD10CM:M08.40 +xref: ICD9CM:714.3 +xref: ICD9CM:714.31 +xref: ICD9CM:714.32 +xref: ICD9CM:714.33 +xref: NCI:C26979 +xref: OMIM:604302 +xref: ORDO:92 +xref: SNOMEDCT_US_2015_03_01:201798003 +xref: SNOMEDCT_US_2015_03_01:201799006 +xref: SNOMEDCT_US_2015_03_01:201803007 +xref: SNOMEDCT_US_2015_03_01:201809006 +xref: SNOMEDCT_US_2015_03_01:74391003 +xref: SNOMEDCT_US_2015_03_01:7441009 +xref: SNOMEDCT_US_2015_03_01:75822003 +xref: SNOMEDCT_US_2015_03_01:83793004 +xref: UMLS_CUI:C0157916 +xref: UMLS_CUI:C0157917 +xref: UMLS_CUI:C0157918 +xref: UMLS_CUI:C0409667 +is_a: DOID:7148 ! rheumatoid arthritis + +[Term] +id: DOID:6760 +name: lung lymphoma +synonym: "lymphoma of lung" EXACT [] +synonym: "pulmonary Lymphoma" EXACT [NCI2004_11_17:C4794] +xref: UMLS_CUI:C0519063 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:6761 +name: skin lymphoma +synonym: "Cutaneous lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255099004] +synonym: "Cutaneous lymphoma, NOS" EXACT [SNOMEDCT_2005_07_31:28054005] +is_obsolete: true + +[Term] +id: DOID:6762 +name: sternum lymphoma +synonym: "Lymphoma of Sternum" EXACT [NCI2004_11_17:C6716] +synonym: "lymphoma of the sternum" EXACT [] +xref: NCI:C6716 +xref: UMLS_CUI:C1336504 +is_a: DOID:5090 ! sternum cancer + +[Term] +id: DOID:6764 +name: peripheral neuroblastoma +synonym: "peripheral neuroblastoma" EXACT [SNOMEDCT_2005_07_31:254764001] +is_obsolete: true + +[Term] +id: DOID:6774 +name: polyembryoma of the ovary +xref: NCI:C39990 +xref: UMLS_CUI:C1514199 +is_a: DOID:5351 ! ovarian primitive germ cell tumor + +[Term] +id: DOID:6776 +name: breast myoepithelial carcinoma +xref: NCI:C40395 +xref: UMLS_CUI:C1518167 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:6777 +name: villoglandular endometrial endometrioid adenocarcinoma +xref: NCI:C27846 +xref: UMLS_CUI:C1336962 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:6778 +name: renal pelvis and ureter localized transitional cell cancer +synonym: "localized Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [NCI2004_11_17:C8167] +is_obsolete: true + +[Term] +id: DOID:678 +name: progressive supranuclear palsy +def: "A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain." [url:http\://en.wikipedia.org/wiki/Progressive_supranuclear_palsy, url:http\://www.ninds.nih.gov/disorders/psp/psp.htm] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "progressive supranuclear ophthalmoplegia" EXACT [MTHICD9_2006:333.0] +synonym: "Steele-Richardson-Olszewski syndrome" EXACT [] +xref: EFOpat_id:846 +xref: ICD10CM:G23.1 +xref: MSH:D013494 +xref: NCI:C85028 +xref: OMIM:601104 +xref: OMIM:609454 +xref: OMIM:610898 +xref: ORDO:683 +xref: SNOMEDCT_US_2015_03_01:192975003 +xref: SNOMEDCT_US_2015_03_01:192976002 +xref: SNOMEDCT_US_2015_03_01:28978003 +xref: UMLS_CUI:C0038868 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:6784 +name: pediatric desmoplastic small round cell tumor +is_obsolete: true + +[Term] +id: DOID:6785 +name: desmoplastic small round cell tumor +synonym: "desmoplastic small round cell tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128735004] +synonym: "desmoplastic small round-cell neoplasm" EXACT [NCI2004_11_17:C8300] +is_obsolete: true + +[Term] +id: DOID:6786 +name: childhood botryoid rhabdomyosarcoma +synonym: "childhood sarcoma Botryoides" EXACT [NCI2004_11_17:C35574] +xref: NCI:C35574 +xref: UMLS_CUI:C1332944 +is_a: DOID:3255 ! botryoid rhabdomyosarcoma + +[Term] +id: DOID:6787 +name: childhood vagina botryoid rhabdomyosarcoma +synonym: "vaginal childhood sarcoma Botryoides" EXACT [NCI2004_11_17:C35556] +xref: NCI:C35556 +xref: UMLS_CUI:C1332945 +is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma + +[Term] +id: DOID:6788 +name: vagina botryoid rhabdomyosarcoma +xref: NCI:C40268 +xref: UMLS_CUI:C1511275 +is_a: DOID:1901 ! vagina sarcoma + +[Term] +id: DOID:6789 +name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma +synonym: "childhood sarcoma Botryoides of the Vulva" EXACT [NCI2004_11_17:C36098] +xref: NCI:C36098 +xref: UMLS_CUI:C1332946 +is_a: DOID:2096 ! vulvar sarcoma + +[Term] +id: DOID:679 +name: basal ganglia disease +synonym: "disorder of basal ganglia (disorder)" EXACT [SNOMEDCT_2005_07_31:70835005] +xref: CSP:2057-3403 +xref: MSH:D001480 +xref: SNOMEDCT_US_2015_03_01:70835005 +xref: UMLS_CUI:C0004782 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:6792 +name: mixed endodermal sinus neoplasm and teratoma with seminoma of the testis +synonym: "mixed Yolk Sac tumor and teratoma with Seminoma of testis" EXACT [NCI2004_11_17:C8003] +is_obsolete: true + +[Term] +id: DOID:68 +name: lymphomyeloid tissue disease +is_obsolete: true + +[Term] +id: DOID:680 +name: tauopathy +def: "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain." [url:http\://en.wikipedia.org/wiki/Tauopathy] +xref: MSH:D024801 +xref: UMLS_CUI:C0949664 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:6801 +name: recurrent hematologic cancer +def: "A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient." [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp] +synonym: "recurrent Hematologic Malignancy" EXACT [NCI2004_11_17:C27358] +is_obsolete: true + +[Term] +id: DOID:6802 +name: relapsed precursor T lymphoblastic lymphoma/leukemia +is_obsolete: true + +[Term] +id: DOID:6803 +name: recurrent adult acute lymphocytic leukemia +def: "A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes." [url:http\://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx] +synonym: "relapsed adult acute lymphoid Leukemia" EXACT [NCI2004_11_17:C7883] +is_obsolete: true + +[Term] +id: DOID:6804 +name: colon Kaposi sarcoma +def: "A sarcoma of colon that is located_in the colon." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] +synonym: "Colonic Kaposi's sarcoma" EXACT [NCI2004_11_17:C5516] +xref: NCI:C5516 +xref: UMLS_CUI:C1333091 +is_a: DOID:5260 ! colon sarcoma + +[Term] +id: DOID:6807 +name: hamartoma Moniliformis +synonym: "Moniliform hamartoma (disorder)" EXACT [SNOMEDCT_2005_07_31:239128003] +is_obsolete: true + +[Term] +id: DOID:6808 +name: Basaloid follicular hamartoma +synonym: "Basal cell nevus with Comedones" EXACT [NCI2004_11_17:C4749] +is_obsolete: true + +[Term] +id: DOID:6809 +name: vaginal tubular adenoma +xref: NCI:C40257 +xref: UMLS_CUI:C1519932 +is_a: DOID:5402 ! vaginal adenoma + +[Term] +id: DOID:681 +name: progressive bulbar palsy +xref: ICD10CM:G12.22 +xref: ICD9CM:335.22 +xref: MSH:D010244 +xref: NCI:C85026 +xref: SNOMEDCT_US_2015_03_01:230547002 +xref: SNOMEDCT_US_2015_03_01:54304004 +xref: UMLS_CUI:C0030442 +is_a: DOID:231 ! motor neuron disease + +[Term] +id: DOID:6811 +name: juvenile pilocytic astrocytoma +xref: MSH:D001254 +xref: NCI:C27081 +xref: UMLS_CUI:C0280783 +is_a: DOID:6812 ! childhood pilocytic astrocytoma + +[Term] +id: DOID:6812 +name: childhood pilocytic astrocytoma +synonym: "pediatric Pilocytic astrocytoma" EXACT [NCI2004_11_17:C4048] +xref: NCI:C4048 +xref: UMLS_CUI:C1332995 +is_a: DOID:4851 ! pilocytic astrocytoma + +[Term] +id: DOID:682 +name: compartment syndrome +synonym: "Compartment syndrome" EXACT [SNOMEDCT_2005_07_31:212379008] +synonym: "Compartment syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:111245009] +synonym: "Compartmental syndrome, NOS" EXACT [SNOMEDCT_2005_07_31:45781009] +xref: ICD10CM:T79.A0 +xref: ICD9CM:958.90 +xref: MSH:D003161 +xref: SNOMEDCT_US_2015_03_01:111245009 +xref: SNOMEDCT_US_2015_03_01:212379008 +xref: SNOMEDCT_US_2015_03_01:45781009 +xref: UMLS_CUI:C0009492 +is_a: DOID:326 ! ischemia + +[Term] +id: DOID:6820 +name: anaplastic childhood astrocytoma of brain +synonym: "grade III pediatric astrocytoma of the brain" EXACT [NCI2004_11_17:C6252] +is_obsolete: true + +[Term] +id: DOID:6823 +name: pancreatoblastoma +synonym: "Pancreatoblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:53618008] +xref: MSH:C537162 +xref: NCI:C4265 +xref: SNOMEDCT_US_2015_03_01:189814006 +xref: SNOMEDCT_US_2015_03_01:53618008 +xref: UMLS_CUI:C0334489 +is_a: DOID:4905 ! pancreatic carcinoma + +[Term] +id: DOID:6826 +name: recurrent cancer of pancreas +synonym: "relapsed pancreatic carcinoma" EXACT [NCI2004_11_17:C7626] +is_obsolete: true + +[Term] +id: DOID:6827 +name: pancreatic solid pseudopapillary carcinoma +def: "A pancreatic carcinoma that is characterized by its papillary architecture." [url:http\://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour, url:http\://www.ncbi.nlm.nih.gov/pubmed/19268906] +subset: DO_cancer_slim +synonym: "pancreatic solid Pseudopapillary carcinoma" EXACT [NCI2004_11_17:C5728] +xref: NCI:C5728 +xref: UMLS_CUI:C1336029 +is_a: DOID:4905 ! pancreatic carcinoma + +[Term] +id: DOID:6828 +name: non-resectable pancreatic carcinoma +synonym: "Unresectable pancreatic carcinoma" EXACT [NCI2004_11_17:C5018] +is_obsolete: true + +[Term] +id: DOID:683 +name: motor neuritis +synonym: "peripheral motor Neuropathy" EXACT [NCI2004_11_17:C3500] +synonym: "peripheral motor neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:95663000] +xref: MSH:D009443 +xref: NCI:C3500 +xref: SNOMEDCT_US_2015_03_01:95663000 +xref: UMLS_CUI:C0235025 +is_a: DOID:231 ! motor neuron disease + +[Term] +id: DOID:6830 +name: resectable pancreas carcinoma +synonym: "pancreatic carcinoma, Resectable" EXACT [NCI2004_11_17:C5099] +is_obsolete: true + +[Term] +id: DOID:6835 +name: recurrent anal cancer +synonym: "recurrent anal canal cancer" EXACT [NCI2004_11_17:C7793] +is_obsolete: true + +[Term] +id: DOID:6837 +name: rete ovarii adenoma +xref: NCI:C40018 +xref: SNOMEDCT_US_2015_03_01:703654008 +xref: UMLS_CUI:C1514905 +is_a: DOID:4895 ! rete ovarii neoplasm + +[Term] +id: DOID:6838 +name: rete ovarii cystadenofibroma +xref: NCI:C40020 +xref: UMLS_CUI:C1514906 +is_a: DOID:4895 ! rete ovarii neoplasm + +[Term] +id: DOID:6839 +name: breast intraductal proliferative lesion +synonym: "Intraductal Proliferative Lesion" EXACT [NCI2004_11_17:C27942] +xref: NCI:C27942 +xref: UMLS_CUI:C1334631 +is_a: DOID:3013 ! intraductal breast neoplasm + +[Term] +id: DOID:684 +name: hepatocellular carcinoma +alt_id: DOID:5005 +def: "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes." [url:http\://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma, url:http\://en.wikipedia.org/wiki/Hepatocellular_carcinoma, url:http\://www.omim.org/entry/114550] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "adult Hepatoma" EXACT [NCI2004_11_17:C7956] +synonym: "adult primary hepatocellular carcinoma" EXACT [] +synonym: "HCC" EXACT [NCI2004_11_17:C3099] +synonym: "Hepatoma" EXACT [SNOMEDCT_2005_07_31:126851005] +xref: EFO:0000182 +xref: NCI2009_04D:C7711 +xref: NCI2009_04D:C7956 +xref: NCI:C7711 +xref: NCI:C7956 +xref: OMIM:114550 +xref: UMLS_CUI:C0279607 +is_a: DOID:686 ! liver carcinoma + +[Term] +id: DOID:6840 +name: glandular cell intraepithelial neoplasm +is_obsolete: true + +[Term] +id: DOID:6841 +name: flat ductal epithelial atypia +synonym: "Flat ductal epithelial Atypia" EXACT [NCI2004_11_17:C36086] +xref: NCI:C36086 +xref: UMLS_CUI:C1333620 +is_a: DOID:6839 ! breast intraductal proliferative lesion + +[Term] +id: DOID:6844 +name: kidney pelvis sarcomatoid transitional cell carcinoma +synonym: "sarcomatoid transitional cell carcinoma of renal Pelvis" EXACT [NCI2004_11_17:C6186] +xref: NCI:C6186 +xref: UMLS_CUI:C1335752 +is_a: DOID:0050620 ! infiltrating renal pelvis transitional cell carcinoma + +[Term] +id: DOID:6845 +name: infiltrating ureter transitional cell carcinoma +xref: NCI:C39879 +xref: UMLS_CUI:C1512750 +is_a: DOID:6888 ! ureter transitional cell carcinoma + +[Term] +id: DOID:6846 +name: familial melanoma +xref: NCI:C8498 +xref: UMLS_CUI:C1512419 +is_a: DOID:1909 ! melanoma + +[Term] +id: DOID:6847 +name: adult botryoid rhabdomyosarcoma +xref: NCI:C36099 +xref: UMLS_CUI:C1332185 +is_a: DOID:3255 ! botryoid rhabdomyosarcoma + +[Term] +id: DOID:6848 +name: adult vagina botryoid rhabdomyosarcoma +xref: NCI:C40267 +xref: UMLS_CUI:C1515893 +is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma + +[Term] +id: DOID:6849 +name: testicular intratubular germ cell neoplasia of the unclassified type +def: "A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation." [URL:http\://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result] +synonym: "ITGCNU" EXACT [] +synonym: "testicular Intraepithelial Neoplasia" EXACT [NCI2004_11_17:C40345] +is_obsolete: true + +[Term] +id: DOID:6850 +name: hamartoma of Eccrine Sweat gland +synonym: "hamartoma of the Eccrine Sweat gland" EXACT [NCI2004_11_17:C5564] +is_obsolete: true + +[Term] +id: DOID:6851 +name: Linear Eccrine nevus with Comedones +synonym: "Porokeratotic Eccrine duct and Hair Follicle nevus" EXACT [NCI2004_11_17:C4740] +synonym: "Porokeratotic eccrine ostial and dermal duct nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:239118007] +is_obsolete: true + +[Term] +id: DOID:6852 +name: eccrine angiomatous hamartoma +synonym: "Eccrine angiomatous hamartoma (disorder)" EXACT [SNOMEDCT_2005_07_31:239115005] +synonym: "Eccrine Angiomatous nevus" EXACT [NCI2004_11_17:C4703] +is_obsolete: true + +[Term] +id: DOID:6854 +name: ethmoid sinus ectopic meningioma +synonym: "primary Ectopic meningioma of ethmoidal sinus" EXACT [NCI2004_11_17:C5309] +xref: NCI:C5309 +xref: UMLS_CUI:C1333475 +is_a: DOID:1364 ! ethmoidal sinus neoplasm + +[Term] +id: DOID:6856 +name: pineal region teratoma +synonym: "teratoma of Pineal Area" EXACT [NCI2004_11_17:C6753] +xref: NCI:C6753 +xref: UMLS_CUI:C1335419 +is_a: DOID:1660 ! malignant pineal area germ cell neoplasm + +[Term] +id: DOID:6857 +name: pineal region mature teratoma +synonym: "Mature teratoma of the Pineal Area" EXACT [NCI2004_11_17:C6754] +xref: NCI:C6754 +xref: UMLS_CUI:C1335417 +is_a: DOID:5566 ! mature teratoma +is_a: DOID:6856 ! pineal region teratoma + +[Term] +id: DOID:6858 +name: pineal region immature teratoma +synonym: "Atypical Pineal teratoma" EXACT [NCI2004_11_17:C6755] +xref: NCI:C6755 +xref: UMLS_CUI:C1335416 +is_a: DOID:6856 ! pineal region teratoma + +[Term] +id: DOID:686 +name: liver carcinoma +def: "A liver cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Liver_cancer] +synonym: "Liver and Intrahepatic bile duct carcinoma" EXACT [NCI2004_11_17:C7927] +xref: NCI:C7927 +xref: UMLS_CUI:C0279000 +is_a: DOID:3571 ! liver cancer + +[Term] +id: DOID:6860 +name: Endobronchial hamartoma +is_obsolete: true + +[Term] +id: DOID:6861 +name: recurrent cancer of gallbladder +synonym: "relapsed cancer of the gallbladder" EXACT [NCI2004_11_17:C4008] +is_obsolete: true + +[Term] +id: DOID:6865 +name: oxyphilic endometrial endometrioid adenocarcinoma +xref: NCI:C27849 +xref: UMLS_CUI:C1518768 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:6867 +name: mediastinal gray zone lymphoma +xref: NCI:C37870 +xref: UMLS_CUI:C1334657 +is_a: DOID:5822 ! gray zone lymphoma +is_a: DOID:6868 ! mediastinal malignant lymphoma + +[Term] +id: DOID:6868 +name: mediastinal malignant lymphoma +synonym: "Lymphoma of mediastinum" EXACT [NCI2004_11_17:C6633] +xref: NCI:C6633 +xref: UMLS_CUI:C1334665 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:6869 +name: parasagittal meningioma +xref: MSH:D008579 +xref: NCI:C4960 +xref: UMLS_CUI:C0751304 +is_a: DOID:6114 ! cerebral convexity meningioma + +[Term] +id: DOID:687 +name: hepatoblastoma +synonym: "HBL" EXACT [NCI2004_11_17:C3728] +xref: ICD10CM:C22.2 +xref: MSH:D018197 +xref: NCI:C3728 +xref: SNOMEDCT_US_2015_03_01:109843000 +xref: SNOMEDCT_US_2015_03_01:45024009 +xref: UMLS_CUI:C0206624 +is_a: DOID:3571 ! liver cancer + +[Term] +id: DOID:6870 +name: cockade nevus +synonym: "Cockade nevus (disorder)" EXACT [SNOMEDCT_2005_07_31:254804007] +is_obsolete: true + +[Term] +id: DOID:6871 +name: spinal cord neuroblastoma +synonym: "neuroblastoma of the Spinal Cord" EXACT [NCI2004_11_17:C5155] +xref: NCI:C5155 +xref: UMLS_CUI:C1336046 +is_a: DOID:6872 ! spinal cord primitive neuroectodermal neoplasm + +[Term] +id: DOID:6872 +name: spinal cord primitive neuroectodermal neoplasm +synonym: "Spinal Cord PNET" EXACT [NCI2004_11_17:C5406] +xref: NCI:C5406 +xref: UMLS_CUI:C1336048 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:6873 +name: skin tag +synonym: "cutaneous tag" EXACT [CSP2005:2020-2747] +synonym: "Fibroepithelial polyp" EXACT [NCI2004_11_17:C3337] +synonym: "Fibroepithelial polyp (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:31069005] +synonym: "Fibroepithelial polyp of skin" EXACT [NCI2004_11_17:C3374] +synonym: "skin tag (disorder)" EXACT [SNOMEDCT_2005_07_31:201091002] +synonym: "skin tag NOS" EXACT [SNOMEDCT_2005_07_31:189051001] +synonym: "skin tag NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:255183007] +synonym: "soft fibroma" EXACT [SNOMEDCT_2005_07_31:2710003] +synonym: "Tag (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:80801001] +xref: NCI:C3337 +xref: NCI:C3374 +xref: SNOMEDCT_US_2015_03_01:156440000 +xref: SNOMEDCT_US_2015_03_01:189051001 +xref: SNOMEDCT_US_2015_03_01:201091002 +xref: SNOMEDCT_US_2015_03_01:255183007 +xref: SNOMEDCT_US_2015_03_01:2710003 +xref: SNOMEDCT_US_2015_03_01:31069005 +xref: SNOMEDCT_US_2015_03_01:80801001 +xref: UMLS_CUI:C0037293 +is_a: DOID:2053 ! reactive cutaneous fibrous lesion + +[Term] +id: DOID:6874 +name: type 1a ALPS +is_obsolete: true + +[Term] +id: DOID:6876 +name: mixed childhood rhabdomyosarcoma +synonym: "pediatric mixed type Rhabdomyosarcoma" EXACT [NCI2004_11_17:C7960] +is_obsolete: true + +[Term] +id: DOID:6879 +name: hamartoma of Apocrine Sweat gland +synonym: "hamartoma of the Apocrine Sweat gland" EXACT [NCI2004_11_17:C5563] +is_obsolete: true + +[Term] +id: DOID:688 +name: embryonal cancer +def: "A germ cell cancer that is associated with an embryo." [url:http\://www.cancer.gov/dictionary/?CdrID=44250] +synonym: "embryo neoplasm" EXACT [CSP2005:2000-3997] +synonym: "embryonal neoplasm" EXACT [NCI2004_11_17:C3264] +xref: MSH:D009373 +xref: NCI:C3264 +xref: UMLS_CUI:C0027654 +is_a: DOID:2994 ! germ cell cancer + +[Term] +id: DOID:6880 +name: small bowel fibrosarcoma +def: "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] +synonym: "Fibrosarcoma, small Intestine" EXACT [NCI2004_11_17:C5336] +xref: NCI:C5336 +xref: UMLS_CUI:C1335994 +is_a: DOID:5272 ! small intestinal sarcoma + +[Term] +id: DOID:6886 +name: ureter small cell carcinoma +synonym: "ureteral small cell carcinoma" EXACT [NCI2004_11_17:C6176] +xref: NCI:C6176 +xref: UMLS_CUI:C1336878 +is_a: DOID:4939 ! ureter carcinoma + +[Term] +id: DOID:6887 +name: recurrent ureteric cancer +synonym: "recurrent Ureter carcinoma" EXACT [NCI2004_11_17:C9255] +is_obsolete: true + +[Term] +id: DOID:6888 +name: ureter transitional cell carcinoma +synonym: "transitional cell carcinoma of ureter (disorder)" EXACT [SNOMEDCT_2005_07_31:300988009] +synonym: "ureteral Urothelial cell carcinoma" EXACT [NCI2004_11_17:C4830] +xref: NCI:C4830 +xref: SNOMEDCT_US_2015_03_01:300988009 +xref: UMLS_CUI:C0577692 +is_a: DOID:4939 ! ureter carcinoma + +[Term] +id: DOID:6893 +name: AIDS-related cervical cancer +synonym: "AIDS Related carcinoma of the uterine Cervix" EXACT [NCI2004_11_17:C7432] +is_obsolete: true + +[Term] +id: DOID:6894 +name: AIDS-related cervical Kaposi's sarcoma +synonym: "AIDS-Related Kaposi's sarcoma of Cervix" EXACT [NCI2004_11_17:C7433] +is_obsolete: true + +[Term] +id: DOID:6895 +name: AIDS-related Kaposi's sarcoma +def: "A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS." [url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] +synonym: "AIDS with Kaposi's sarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:77865003] +synonym: "Autoimmune deficiency syndrome-Related Kaposi sarcoma" EXACT [NCI2004_11_17:C3992] +synonym: "Epidemic Kaposi's sarcoma" EXACT [SNOMEDCT_2005_07_31:109385007] +synonym: "HIV disease resulting in Kaposi's sarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:186722007] +is_obsolete: true + +[Term] +id: DOID:6897 +name: Malposition and malpresentation of fetus +is_obsolete: true + +[Term] +id: DOID:6898 +name: ovary mixed epithelial carcinoma +synonym: "mixed epithelial carcinoma of Ovary" EXACT [NCI2004_11_17:C9123] +xref: UMLS_CUI:C0279392 +is_a: DOID:4001 ! ovarian carcinoma + +[Term] +id: DOID:6899 +name: malignant ovarian mixed epithelial neoplasm +xref: NCI:C40090 +xref: UMLS_CUI:C1518232 +is_a: DOID:6211 ! mixed epithelial tumor of ovary + +[Term] +id: DOID:69 +name: hemopoetic tissue disease +is_obsolete: true + +[Term] +id: DOID:690 +name: childhood cancer of liver +synonym: "pediatric cancer of the Liver" EXACT [NCI2004_11_17:C7708] +synonym: "pediatric carcinoma of the Liver cell" EXACT [NCI2004_11_17:C7955] +is_obsolete: true + +[Term] +id: DOID:6901 +name: familiar ovarian carcinoma +xref: NCI:C36102 +xref: UMLS_CUI:C1333992 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:6903 +name: eye lymphoma +def: "A lymphoma by site that is manifested in immune system cells called lymphocytes." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp] +xref: NCI:C35690 +xref: UMLS_CUI:C1333519 +is_a: DOID:2174 ! ocular cancer + +[Term] +id: DOID:6905 +name: AIDS-related herpes zoster +def: "A herpes zoster that is complicated_by AIDS." [url:http\://www.aidsinfonet.org/fact_sheets/view/509] +is_obsolete: true + +[Term] +id: DOID:6906 +name: glomangiomatosis +xref: NCI:C27496 +xref: SNOMEDCT_US_2015_03_01:703603008 +xref: UMLS_CUI:C1333824 +is_a: DOID:5238 ! benign perivascular tumor + +[Term] +id: DOID:6917 +name: predominantly cortical thymoma +synonym: "Lymphocyte-Predominant Thymoma" EXACT [NCI2004_11_17:C6887] +synonym: "Thymoma, organoid" EXACT [SNOMEDCT_2005_07_31:128711009] +xref: NCI:C6887 +xref: SNOMEDCT_US_2015_03_01:128711009 +xref: UMLS_CUI:C1266094 +is_a: DOID:3282 ! dendritic cell thymoma + +[Term] +id: DOID:6919 +name: extramucosal (perianal) adenocarcinoma +alt_id: DOID:6918 +synonym: "adenocarcinoma of anus within Anorectal fistula" EXACT [NCI2004_11_17:C7475] +synonym: "adenocarcinoma of the anus within Anorectal fistula" EXACT [] +synonym: "Extramucosal (Perianal) adenocarcinoma of anus" EXACT [NCI2004_11_17:C7474] +synonym: "extramucosal (perianal) adenocarcinoma of the anus" RELATED [] +is_obsolete: true + +[Term] +id: DOID:6923 +name: fibrolipomatous hamartoma of peripheral nerve +is_obsolete: true + +[Term] +id: DOID:6925 +name: peroneal nerve paralysis +synonym: "Peroneal nerve palsy" EXACT [SNOMEDCT_2005_07_31:34553007] +xref: ICD10CM:G57.3 +xref: MSH:D020427 +xref: NCI:C27061 +xref: SNOMEDCT_US_2015_03_01:34553007 +xref: UMLS_CUI:C0270810 +is_a: DOID:574 ! peripheral nervous system disease + +[Term] +id: DOID:6929 +name: retinal edema +synonym: "RETINAL EDEMA" EXACT [MTH:NOCODE] +synonym: "Retinal edema" EXACT [ICD9CM_2006:362.83] +synonym: "Retinal edema (disorder)" EXACT [SNOMEDCT_2005_07_31:6141006] +synonym: "Retinal edema NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193426002] +xref: ICD10CM:H35.81 +xref: ICD9CM:362.83 +xref: MSH:D010211 +xref: SNOMEDCT_US_2015_03_01:193426002 +xref: SNOMEDCT_US_2015_03_01:6141006 +xref: UMLS_CUI:C0242420 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:693 +name: dental enamel hypoplasia +synonym: "Enamel Hypoplasia" EXACT [NCI2004_11_17:C34529] +synonym: "Enamel hypoplasia" EXACT [SNOMEDCT_2005_07_31:196277000] +synonym: "Enamel hypoplasia" EXACT [MTHICD9_2006:520.4] +synonym: "Enamel hypoplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:26597004] +xref: MSH:D003744 +xref: NCI:C34529 +xref: SNOMEDCT_US_2015_03_01:196277000 +xref: SNOMEDCT_US_2015_03_01:26597004 +xref: SNOMEDCT_US_2015_03_01:699382004 +xref: UMLS_CUI:C0011351 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:6931 +name: papillary extrahepatic bile duct adenocarcinoma +xref: UMLS_CUI:C0861858 +is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma + +[Term] +id: DOID:6932 +name: urinary bladder inverted papilloma +xref: NCI:C39859 +xref: SNOMEDCT_US_2015_03_01:447765004 +xref: UMLS_CUI:C1511190 +is_a: DOID:6933 ! bladder transitional cell papilloma + +[Term] +id: DOID:6933 +name: bladder transitional cell papilloma +alt_id: DOID:2141 +synonym: "bladder papilloma" EXACT [] +synonym: "bladder papilloma NOS" EXACT [SNOMEDCT_2005_07_31:154620001, SNOMEDCT_2005_07_31:269642004] +synonym: "bladder papilloma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:313414002] +synonym: "transitional cell papilloma of bladder" EXACT [SNOMEDCT_2005_07_31:189459005] +synonym: "urinary bladder Urothelial papilloma" EXACT [NCI2004_11_17:C39858] +synonym: "Urothelial papilloma" EXACT [NCI2004_11_17:C3842] +synonym: "Urothelial papilloma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:45083001] +xref: NCI:C3842 +xref: NCI:C39858 +xref: SNOMEDCT_US_2015_03_01:154620001 +xref: SNOMEDCT_US_2015_03_01:189459005 +xref: SNOMEDCT_US_2015_03_01:269642004 +xref: SNOMEDCT_US_2015_03_01:313414002 +xref: SNOMEDCT_US_2015_03_01:45083001 +xref: UMLS_CUI:C0235754 +xref: UMLS_CUI:C1384678 +is_a: DOID:5432 ! bladder papillary transitional cell neoplasm + +[Term] +id: DOID:6934 +name: urethra inverted papilloma +synonym: "Inverted papilloma of the urethra" EXACT [NCI2004_11_17:C6173] +xref: NCI:C6173 +xref: UMLS_CUI:C1336887 +is_a: DOID:2140 ! urethral urothelial papilloma + +[Term] +id: DOID:6935 +name: ureter inverted papilloma +synonym: "ureteral Inverted papilloma" EXACT [NCI2004_11_17:C6174] +xref: NCI:C6174 +xref: UMLS_CUI:C1336874 +is_a: DOID:6936 ! ureter urothelial papilloma + +[Term] +id: DOID:6936 +name: ureter urothelial papilloma +xref: NCI:C6160 +xref: UMLS_CUI:C1519823 +is_a: DOID:11885 ! ureteral benign neoplasm + +[Term] +id: DOID:6938 +name: pediatric Intraocular retinoblastoma +def: "An intraocular retinoblastoma that effects children." [url:http\://www.answers.com/topic/intraocular-retinoblastoma] +synonym: "childhood Intraocular Retinoblastoma" EXACT [NCI2004_11_17:C9047] +xref: NCI:C9047 +xref: UMLS_CUI:C1321869 +is_a: DOID:4653 ! intraocular retinoblastoma + +[Term] +id: DOID:6939 +name: childhood brain meningioma +synonym: "pediatric meningioma of brain" EXACT [NCI2004_11_17:C6253] +xref: NCI:C6253 +xref: UMLS_CUI:C1332949 +is_a: DOID:0060106 ! brain meningioma + +[Term] +id: DOID:6943 +name: vulvar inverted follicular keratosis +xref: NCI:C40291 +xref: UMLS_CUI:C1520084 +is_a: DOID:6944 ! vulvar seborrheic keratosis +is_a: DOID:6945 ! inverted follicular keratosis + +[Term] +id: DOID:6944 +name: vulvar seborrheic keratosis +synonym: "Seborrheic Keratosis of Vulva" EXACT [NCI2004_11_17:C6375] +xref: NCI:C6375 +xref: UMLS_CUI:C1336981 +is_a: DOID:2072 ! vulvar squamous tumor +is_a: DOID:6498 ! seborrheic keratosis + +[Term] +id: DOID:6945 +name: inverted follicular keratosis +synonym: "Inverted folicular keratosis" EXACT [SNOMEDCT_2005_07_31:15112009] +synonym: "Inverted Follicular Keratosis" EXACT [NCI2004_11_17:C9007] +synonym: "Inverted follicular keratosis" EXACT [SNOMEDCT_2005_07_31:201096007] +synonym: "Inverted follicular keratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:394728005] +xref: NCI:C9007 +xref: SNOMEDCT_US_2015_03_01:15112009 +xref: SNOMEDCT_US_2015_03_01:201096007 +xref: SNOMEDCT_US_2015_03_01:394728005 +xref: UMLS_CUI:C0334019 +is_a: DOID:6498 ! seborrheic keratosis + +[Term] +id: DOID:6947 +name: sphenoidal sinus neoplasm +synonym: "neoplasm of sphenoidal sinus (disorder)" EXACT [SNOMEDCT_2005_07_31:126679002] +synonym: "tumor of Sphenoidal sinus" EXACT [NCI2004_11_17:C6792] +xref: NCI:C6792 +xref: SNOMEDCT_US_2015_03_01:126679002 +xref: UMLS_CUI:C0345676 +is_a: DOID:1350 ! paranasal sinus neoplasm + +[Term] +id: DOID:6948 +name: malignant gastric teratoma +synonym: "malignant teratoma of stomach" EXACT [NCI2004_11_17:C5256] +xref: NCI:C5256 +xref: UMLS_CUI:C1334151 +is_a: DOID:4716 ! malignant gastric germ cell tumor + +[Term] +id: DOID:6949 +name: malignant gastric germ cell tumor +synonym: "malignant germ cell tumor of stomach" EXACT [NCI2004_11_17:C5486] +is_obsolete: true + +[Term] +id: DOID:6950 +name: combat disorder +def: "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress." [url:http\://neurolex.org/wiki/Category\:Combat_Disorder] +synonym: "Combat Neurosis" EXACT [NCI2004_11_17:C34498] +xref: MSH:D003130 +xref: NCI:C34498 +xref: UMLS_CUI:C0009426 +is_a: DOID:6088 ! acute stress disorder + +[Term] +id: DOID:6951 +name: telangiectatic osteogenic sarcoma +synonym: "Telangiectatic osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:78453009] +xref: NCI:C3902 +xref: SNOMEDCT_US_2015_03_01:78453009 +xref: UMLS_CUI:C0259782 +is_a: DOID:3378 ! conventional central osteosarcoma + +[Term] +id: DOID:6954 +name: Epstein-Barr virus related lymphoma +def: "An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects." [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] +synonym: "EBV Related Lymphoma" EXACT [NCI2004_11_17:C27691] +is_obsolete: true + +[Term] +id: DOID:6955 +name: intracranial melanoma +is_obsolete: true + +[Term] +id: DOID:6956 +name: malignant intracranial neoplasm By Morphology +is_obsolete: true + +[Term] +id: DOID:6958 +name: aleukemic monocytic leukemia cutis +xref: NCI:C5630 +xref: UMLS_CUI:C1332232 +is_a: DOID:6003 ! aleukemic leukemia cutis + +[Term] +id: DOID:6959 +name: rectal cloacogenic carcinoma +synonym: "transitional Zone carcinoma of rectum" EXACT [NCI2004_11_17:C5555] +xref: NCI:C5555 +xref: UMLS_CUI:C1333074 +is_a: DOID:5528 ! rectum squamous cell carcinoma + +[Term] +id: DOID:6961 +name: Bartholin's gland squamous cell carcinoma +synonym: "Bartholin gland squamous cell carcinoma" EXACT [] +xref: NCI:C40293 +xref: UMLS_CUI:C1511052 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:6962 +name: recurrent cancer of skin +synonym: "recurrent Cutaneous carcinoma" EXACT [NCI2004_11_17:C7903] +is_obsolete: true + +[Term] +id: DOID:6969 +name: acute canaliculitis +synonym: "acute canaliculitis, lacrimal" EXACT [ICD9CM_2006:375.31] +synonym: "acute lacrimal canaliculitis (disorder)" EXACT [SNOMEDCT_2005_07_31:84399007] +xref: ICD10CM:H04.33 +xref: ICD9CM:375.31 +xref: SNOMEDCT_US_2015_03_01:84399007 +xref: UMLS_CUI:C0339130 +is_a: DOID:6970 ! acute inflammation of lacrimal passage + +[Term] +id: DOID:6970 +name: acute inflammation of lacrimal passage +synonym: "acute and unspecified inflammation of lacrimal passages" EXACT [ICD9CM_2006:375.3] +synonym: "acute and unspecified inflammation of lacrimal passages" EXACT [SNOMEDCT_2005_07_31:193986007] +synonym: "acute and unspecified inflammation of lacrimal passages (disorder)" EXACT [SNOMEDCT_2005_07_31:267652006] +synonym: "acute inflammation of lacrimal passages (disorder)" EXACT [SNOMEDCT_2005_07_31:302900006] +xref: ICD10CM:H04.3 +xref: ICD9CM:375.3 +xref: SNOMEDCT_US_2015_03_01:193986007 +xref: SNOMEDCT_US_2015_03_01:267652006 +xref: SNOMEDCT_US_2015_03_01:302900006 +xref: UMLS_CUI:C0339129 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:6975 +name: bladder urothelial papillary carcinoma +synonym: "urothelial papillary carcinoma of the bladder" RELATED [] +xref: NCI:C7383 +xref: UMLS_CUI:C1518882 +is_a: DOID:4006 ! bladder transitional cell carcinoma + +[Term] +id: DOID:6976 +name: micropapillary variant infiltrating bladder urothelial carcinoma +xref: NCI:C27202 +xref: UMLS_CUI:C1517579 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:6977 +name: pancreatic cholera +synonym: "Excessive vasoactive intestinal peptide secretion [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:237576001] +synonym: "pancreatic WDHA syndrome" EXACT [NCI2004_11_17:C3488] +synonym: "Verner-Morrison syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:39998009] +xref: MSH:D003969 +xref: NCI:C3488 +xref: SNOMEDCT_US_2015_03_01:237576001 +xref: SNOMEDCT_US_2015_03_01:39998009 +xref: SNOMEDCT_US_2015_03_01:70091000 +xref: UMLS_CUI:C0086768 +is_a: DOID:1428 ! endocrine pancreas disease + +[Term] +id: DOID:698 +name: dentin sensitivity +synonym: "Sensitive dentin" EXACT [MTHICD9_2006:521.8] +synonym: "Sensitive dentin (disorder)" EXACT [SNOMEDCT_2005_07_31:13468005] +xref: MSH:D003807 +xref: NCI:C50778 +xref: SNOMEDCT_US_2015_03_01:13468005 +xref: UMLS_CUI:C0011432 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:6980 +name: recurrent rectosigmoid cancer +synonym: "relapsed Rectosigmoid cancer" EXACT [NCI2004_11_17:C8634] +is_obsolete: true + +[Term] +id: DOID:6981 +name: recurrent colorectal cancer +synonym: "Colorectal carcinoma recurrent" EXACT [NCI2004_11_17:C8625] +is_obsolete: true + +[Term] +id: DOID:6988 +name: peripheral epithelioid sarcoma +xref: NCI:C27473 +xref: UMLS_CUI:C1333306 +is_a: DOID:6193 ! epithelioid sarcoma + +[Term] +id: DOID:6989 +name: non-neoplastic non-molar trophoblastic disorder +is_obsolete: true + +[Term] +id: DOID:699 +name: mitochondrial myopathy +def: "A myopathy that is characterized by mitochondrial dysfunction." [url:http\://en.wikipedia.org/wiki/Mitochondrial_myopathies, url:http\://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "mitochondrial cytopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:240096000] +xref: MSH:D017240 +xref: NCI:C101328 +xref: OMIM:251900 +xref: SNOMEDCT_US_2015_03_01:16851005 +xref: SNOMEDCT_US_2015_03_01:240096000 +xref: UMLS_CUI:C0162670 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:6990 +name: placental site nodule or plaque +is_obsolete: true + +[Term] +id: DOID:6991 +name: exaggerated placental site +synonym: "Exaggerated placental site (disorder)" EXACT [SNOMEDCT_2005_07_31:417150000] +synonym: "Exaggerated placental site (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:416635001] +is_obsolete: true + +[Term] +id: DOID:6992 +name: intraocular mixed cell type melanoma +synonym: "mixed cell type Uveal melanoma" EXACT [NCI2004_11_17:C7989] +xref: NCI:C7989 +xref: UMLS_CUI:C0279693 +is_a: DOID:1752 ! ocular melanoma + +[Term] +id: DOID:6993 +name: iris mixed cell melanoma +xref: NCI:C6101 +xref: UMLS_CUI:C1334210 +is_a: DOID:6992 ! intraocular mixed cell type melanoma +is_a: DOID:6994 ! malignant iris melanoma + +[Term] +id: DOID:6994 +name: malignant iris melanoma +synonym: "malignant melanoma of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:255012009] +synonym: "melanoma of the Iris" EXACT [NCI2004_11_17:C9088] +xref: NCI:C9088 +xref: SNOMEDCT_US_2015_03_01:255012009 +xref: UMLS_CUI:C0346373 +is_a: DOID:3478 ! iris cancer + +[Term] +id: DOID:6995 +name: metastasis to the kidney +synonym: "metastasis to kidney" EXACT [SNOMEDCT_2005_07_31:154569009] +synonym: "metastatic neoplasm to the kidney" EXACT [NCI2004_11_17:C7549] +synonym: "secondary malignant neoplasm of kidney" EXACT [ICD9CM_2006:198.0] +synonym: "secondary malignant neoplasm of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:94360002] +is_obsolete: true + +[Term] +id: DOID:6996 +name: intermediate cell type choroid melanoma +synonym: "mixed cell melanoma of Choroid" EXACT [NCI2004_11_17:C6100] +xref: NCI:C6100 +xref: UMLS_CUI:C1334208 +is_a: DOID:6438 ! malignant choroid melanoma +is_a: DOID:6992 ! intraocular mixed cell type melanoma + +[Term] +id: DOID:6997 +name: intermediate cell type ciliary body melanoma +xref: NCI:C6118 +xref: UMLS_CUI:C1334209 +is_a: DOID:6524 ! malignant ciliary body melanoma +is_a: DOID:6992 ! intraocular mixed cell type melanoma + +[Term] +id: DOID:6998 +name: gallbladder mucinous carcinoma +synonym: "Colloidal carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5744] +xref: NCI:C5744 +xref: UMLS_CUI:C1333750 +is_a: DOID:3500 ! gallbladder adenocarcinoma + +[Term] +id: DOID:6999 +name: lung recurrent squamous cell carcinoma +synonym: "recurrent squamous cell carcinoma of lung" RELATED [] +synonym: "recurrent squamous cell carcinoma of the lung" EXACT [NCI2004_11_17:C5014] +is_obsolete: true + +[Term] +id: DOID:7 +name: disease of anatomical entity +alt_id: DOID:1 +alt_id: DOID:2 +alt_id: DOID:5 +alt_id: DOID:71 +alt_id: DOID:72 +alt_id: DOID:8 +def: "A disease that manifests in a defined anatomical structure." [DO:wk\,ls, URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic] +is_a: DOID:4 ! disease + +[Term] +id: DOID:70 +name: lymphoid tissue disease +is_obsolete: true + +[Term] +id: DOID:700 +name: mitochondrial metabolism disease +def: "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction." [url:http\://en.wikipedia.org/wiki/Mitochondrial_disease] +xref: MSH:D028361 +xref: SNOMEDCT_US_2015_03_01:240096000 +xref: UMLS_CUI:C0751651 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:7001 +name: recurrent large cell carcinoma of lung +synonym: "relapsed large cell carcinoma of the lung" EXACT [NCI2004_11_17:C8753] +is_obsolete: true + +[Term] +id: DOID:7002 +name: recurrent adenocarcinoma of lung +synonym: "lung Adenocarcinoma, recurrent" EXACT [NCI2004_11_17:C8757] +is_obsolete: true + +[Term] +id: DOID:7003 +name: malignant vaginal mixed tumor resembling synovial sarcoma +is_obsolete: true + +[Term] +id: DOID:7004 +name: ACTH-secreting pituitary adenoma +def: "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome." [url:http\://en.wikipedia.org/wiki/Cushing%27s_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ACTH-Producing Pituitary Adenoma" EXACT [] +synonym: "Corticotroph adenoma" EXACT [SNOMEDCT_2005_07_31:21109002] +synonym: "Corticotropinoma" EXACT [NCI2004_11_17:C7462] +xref: MSH:D049913 +xref: NCI:C7462 +xref: OMIM:219090 +xref: SNOMEDCT_US_2015_03_01:21109002 +xref: SNOMEDCT_US_2015_03_01:254958004 +xref: UMLS_CUI:C1306214 +is_a: DOID:5395 ! functioning pituitary adenoma + +[Term] +id: DOID:7005 +name: gemistocytic astrocytoma +synonym: "Gemistocytic Astrocytic tumor" EXACT [NCI2004_11_17:C4321] +synonym: "Gemistocytic astrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:73982001] +xref: MSH:D001254 +xref: NCI:C4321 +xref: SNOMEDCT_US_2015_03_01:73982001 +xref: UMLS_CUI:C0334581 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:7006 +name: childhood cerebral diffuse astrocytoma +is_obsolete: true + +[Term] +id: DOID:7007 +name: childhood cerebral astrocytoma +synonym: "pediatric astrocytoma of Cerebrum" EXACT [NCI2004_11_17:C4347] +xref: MSH:D001254 +xref: NCI:C4347 +xref: UMLS_CUI:C0338070 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:7008 +name: protoplasmic astrocytoma +synonym: "Protoplasmic Astrocytic tumor" EXACT [NCI2004_11_17:C4320] +synonym: "Protoplasmic astrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:55094006] +xref: MSH:D001254 +xref: NCI:C4320 +xref: SNOMEDCT_US_2015_03_01:55094006 +xref: UMLS_CUI:C0334580 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:7009 +name: adult diffuse astrocytoma +is_obsolete: true + +[Term] +id: DOID:701 +name: dentin dysplasia +def: "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology." [url:http\://en.wikipedia.org/wiki/Dentin_dysplasia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Dentinal dysplasia" EXACT [SNOMEDCT_2005_07_31:45742009] +xref: ICD10CM:K00.5 +xref: MSH:D003805 +xref: OMIM:125400 +xref: OMIM:125420 +xref: ORDO:1635 +xref: SNOMEDCT_US_2015_03_01:109492001 +xref: SNOMEDCT_US_2015_03_01:45742009 +xref: UMLS_CUI:C0011430 +is_a: DOID:214 ! teeth hard tissue disease + +[Term] +id: DOID:7011 +name: recurrent thyroid carcinoma +synonym: "relapsed cancer of the Thyroid" EXACT [NCI2004_11_17:C7908] +is_obsolete: true + +[Term] +id: DOID:7012 +name: anaplastic thyroid carcinoma +synonym: "anaplastic thyroid carcinoma (disorder)" EXACT [SNOMEDCT_2005_07_31:255031003] +synonym: "sarcomatoid Thyroid carcinoma" EXACT [NCI2004_11_17:C3878] +is_obsolete: true + +[Term] +id: DOID:7013 +name: ovarian mucinous cystadenofibroma +xref: NCI:C40041 +xref: UMLS_CUI:C1518725 +is_a: DOID:6469 ! ovarian mucinous adenofibroma + +[Term] +id: DOID:7014 +name: infiltrating lipoma +synonym: "Intramuscular Lipoma" EXACT [NCI2004_11_17:C7450] +synonym: "Intramuscular lipoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:24045002] +xref: NCI:C7450 +xref: NCI:C7451 +xref: SNOMEDCT_US_2015_03_01:24045002 +xref: UMLS_CUI:C0334473 +is_a: DOID:3315 ! lipoma + +[Term] +id: DOID:7015 +name: deep fatty neoplasm +synonym: "Deep Fatty tumor" EXACT [NCI2004_11_17:C6498] +is_obsolete: true + +[Term] +id: DOID:7016 +name: tendon sheath lipoma +synonym: "Lipoma of the Tendon Sheath" EXACT [NCI2004_11_17:C6499] +xref: NCI:C6499 +xref: UMLS_CUI:C1336703 +is_a: DOID:315 ! synovium neoplasm + +[Term] +id: DOID:7017 +name: lumbosacral lipoma +xref: NCI:C6500 +xref: UMLS_CUI:C1334438 +is_a: DOID:0060094 ! bone benign neoplasm + +[Term] +id: DOID:7018 +name: secondary malignant neoplasm to the adult brain +synonym: "metastatic tumor to the adult brain" EXACT [NCI2004_11_17:C5816] +is_obsolete: true + +[Term] +id: DOID:702 +name: tooth abnormality +synonym: "Congenital anomaly of teeth (disorder)" EXACT [SNOMEDCT_2005_07_31:79723009] +synonym: "congenital dentition disorder" EXACT [CSP2005:0723-8720] +is_obsolete: true + +[Term] +id: DOID:7023 +name: borderline ovarian serous neoplasm with microinvasion +is_obsolete: true + +[Term] +id: DOID:7024 +name: mucinous intrahepatic cholangiocarcinoma +xref: NCI:C41618 +xref: UMLS_CUI:C1513718 +is_a: DOID:4928 ! intrahepatic cholangiocarcinoma + +[Term] +id: DOID:7025 +name: anaplastic malignant intracranial meningioma +is_obsolete: true + +[Term] +id: DOID:7026 +name: adult malignant meningioma +synonym: "adult anaplastic (malignant) meningioma" EXACT [NCI2004_11_17:C8275] +synonym: "WHO grade III meningioma" EXACT [NCI2004_11_17:C38938] +is_obsolete: true + +[Term] +id: DOID:7029 +name: site specific early onset breast cancer syndrome +is_obsolete: true + +[Term] +id: DOID:7030 +name: bronchial mucus gland adenoma +synonym: "adenoma of bronchial mucus gland" RELATED [] +synonym: "adenoma of the Bronchial Mucus gland" EXACT [NCI2004_11_17:C5664] +xref: NCI:C5664 +xref: UMLS_CUI:C1332640 +is_a: DOID:5391 ! bronchus adenoma + +[Term] +id: DOID:7031 +name: glottis squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Glottis" EXACT [NCI2004_11_17:C8186] +synonym: "squamous cell carcinoma of glottis" RELATED [] +xref: NCI:C8186 +xref: UMLS_CUI:C0280325 +is_a: DOID:2599 ! glottis carcinoma + +[Term] +id: DOID:7032 +name: bile duct clear cell adenocarcinoma +synonym: "bile duct clear cell carcinoma" EXACT [NCI2004_11_17:C5775] +xref: NCI:C5775 +xref: UMLS_CUI:C0861855 +is_a: DOID:4896 ! bile duct adenocarcinoma + +[Term] +id: DOID:7033 +name: anisakiasis +def: "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf] +synonym: "Anisakiasis (disorder)" EXACT [SNOMEDCT_2005_07_31:187173002] +synonym: "Infection by Anisakis larva" EXACT [MTHICD9_2006:127.1] +synonym: "Infection by Anisakis larva (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:32183007] +xref: ICD10CM:B81.0 +xref: ICD9CM:127.1 +xref: MSH:D017129 +xref: SNOMEDCT_US_2015_03_01:187173002 +xref: SNOMEDCT_US_2015_03_01:32183007 +xref: UMLS_CUI:C0162576 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:7037 +name: childhood immature teratoma of ovary +synonym: "pediatric Immature teratoma of Ovary" EXACT [NCI2004_11_17:C6547] +xref: NCI:C6547 +xref: UMLS_CUI:C1332990 +is_a: DOID:6331 ! immature teratoma of ovary + +[Term] +id: DOID:7039 +name: Borst-Jadassohn intraepidermal carcinoma +synonym: "Bowen's disease, clonal (disorder)" EXACT [SNOMEDCT_2005_07_31:403886007] +synonym: "Intraepidermal Epithelioma of Jadassohn" EXACT [NCI2004_11_17:C4110] +synonym: "Intraepidermal epithelioma of Jadassohn (disorder)" EXACT [SNOMEDCT_2005_07_31:274897005] +synonym: "Intraepidermal epithelioma of Jadassohn (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:39332000] +xref: NCI2009_04D:C4110 +xref: SNOMEDCT_US_2015_03_01:274897005 +xref: SNOMEDCT_US_2015_03_01:403886007 +xref: UMLS_CUI:C0334260 +is_a: DOID:3451 ! skin carcinoma + +[Term] +id: DOID:7040 +name: uveal epithelioid cell melanoma +xref: NCI:C35780 +xref: UMLS_CUI:C1333422 +is_a: DOID:6039 ! uveal melanoma + +[Term] +id: DOID:7041 +name: choroid epithelioid cell melanoma +synonym: "Choroidal epithelioid cell melanoma" EXACT [NCI2004_11_17:C6102] +xref: NCI:C6102 +xref: UMLS_CUI:C1333024 +is_a: DOID:6438 ! malignant choroid melanoma + +[Term] +id: DOID:7042 +name: ciliary body epithelioid cell melanoma +xref: NCI:C6119 +xref: UMLS_CUI:C1333050 +is_a: DOID:6524 ! malignant ciliary body melanoma +is_a: DOID:7040 ! uveal epithelioid cell melanoma + +[Term] +id: DOID:7043 +name: metastatic vulvar cancer +synonym: "metastatic Vulvar carcinoma" EXACT [NCI2004_11_17:C27247] +is_obsolete: true + +[Term] +id: DOID:7045 +name: basaloid lung carcinoma +xref: NCI:C7266 +xref: UMLS_CUI:C1332463 +is_a: DOID:3907 ! lung squamous cell carcinoma + +[Term] +id: DOID:7046 +name: cervical basaloid squamous cell carcinoma +xref: NCI:C40189 +xref: UMLS_CUI:C1511063 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:7047 +name: penis basaloid carcinoma +synonym: "squamous cell carcinoma of penis, Basaloid type" EXACT [NCI2004_11_17:C6980] +xref: NCI:C6980 +xref: UMLS_CUI:C1332462 +is_a: DOID:5518 ! penis squamous cell carcinoma + +[Term] +id: DOID:7048 +name: vulvar basaloid squamous cell carcinoma +xref: NCI2009_04D:C40286 +is_a: DOID:2101 ! vulva squamous cell carcinoma + +[Term] +id: DOID:7049 +name: basaloid squamous cell skin carcinoma +synonym: "skin Basaloid squamous cell carcinoma" EXACT [NCI2004_11_17:C27543] +xref: NCI:C27543 +xref: UMLS_CUI:C1335973 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:705 +name: leber hereditary optic neuropathy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Leber's hereditary optic neuropathy" EXACT [SNOMEDCT_2005_07_31:230510002] +synonym: "Leber's hereditary optic neuropathy" EXACT [CSP2005:5000-0048] +synonym: "Leber's hereditary optic neuropathy" EXACT [CSP2005:2042-6601] +synonym: "Leber's optic atrophy" EXACT [SNOMEDCT_2005_07_31:194045006] +synonym: "Leber's optic atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:58610003] +synonym: "optic atrophy, Leber's" EXACT [MTHICD9_2006:377.16] +xref: ICD10CM:H47.22 +xref: MSH:D029242 +xref: NCI:C84808 +xref: OMIM:535000 +xref: SNOMEDCT_US_2015_03_01:194045006 +xref: SNOMEDCT_US_2015_03_01:230510002 +xref: SNOMEDCT_US_2015_03_01:58610003 +xref: UMLS_CUI:C0917796 +is_a: DOID:1891 ! optic nerve disease + +[Term] +id: DOID:7050 +name: thymus basaloid carcinoma +synonym: "Basaloid carcinoma of the Thymus" EXACT [NCI2004_11_17:C6456] +xref: NCI:C6456 +xref: UMLS_CUI:C1332464 +is_a: DOID:5530 ! thymus squamous cell carcinoma + +[Term] +id: DOID:7051 +name: esophageal basaloid squamous cell carcinoma +synonym: "Basaloid squamous carcinoma of esophagus" EXACT [NCI2004_11_17:C7032] +xref: NCI:C7032 +xref: UMLS_CUI:C1333443 +is_a: DOID:3748 ! esophagus squamous cell carcinoma + +[Term] +id: DOID:7053 +name: anaplastic small cell thyroid carcinoma +synonym: "Undifferentiated small cell carcinoma of the Thyroid gland" EXACT [NCI2004_11_17:C7907] +is_obsolete: true + +[Term] +id: DOID:7054 +name: multiple skull base meningioma +xref: NCI:C5279 +xref: UMLS_CUI:C1334829 +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:706 +name: mature B-cell neoplasm +subset: DO_cancer_slim +synonym: "mature B-cell lymphocytic neoplasm" EXACT [] +xref: EFO:0000096 +xref: NCI:C27910 +xref: UMLS_CUI:C1334633 +is_a: DOID:707 ! B-cell lymphoma + +[Term] +id: DOID:7061 +name: precursor B lymphoblastic lymphoma/leukemia +xref: NCI:C8936 +xref: UMLS_CUI:C0862030 +is_a: DOID:5600 ! precursor lymphoblastic lymphoma/leukemia +is_a: DOID:707 ! B-cell lymphoma + +[Term] +id: DOID:707 +name: B-cell lymphoma +def: "A non-Hodgkin lymphoma that has_material_basis_in B cells." [url:http\://en.wikipedia.org/wiki/B-cell_lymphoma] +subset: DO_cancer_slim +synonym: "B-cell lymphocytic neoplasm" EXACT [] +xref: MSH:D016393 +xref: NCI:C27907 +xref: NCI:C3457 +xref: SNOMEDCT_US_2015_03_01:109979007 +xref: SNOMEDCT_US_2015_03_01:1929004 +xref: SNOMEDCT_US_2015_03_01:413616009 +xref: UMLS_CUI:C0079731 +is_a: DOID:0060060 ! non-Hodgkin lymphoma + +[Term] +id: DOID:7070 +name: recurrent pediatric rhabdomyosarcoma +synonym: "relapsed pediatric Rhabdomyosarcoma" EXACT [NCI2004_11_17:C7815] +is_obsolete: true + +[Term] +id: DOID:7071 +name: spinal cord dermoid cyst +synonym: "Spinal Cord Dermoid" EXACT [NCI2004_11_17:C6808] +xref: NCI:C6808 +xref: UMLS_CUI:C1333278 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:7074 +name: choroidal hemorrhage and rupture +synonym: "Choroidal hemorrhage and rupture (disorder)" EXACT [SNOMEDCT_2005_07_31:193474002] +synonym: "Choroidal hemorrhage or rupture NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193476000] +is_obsolete: true + +[Term] +id: DOID:7075 +name: atypical vulvar nevus +is_obsolete: true + +[Term] +id: DOID:7076 +name: lipid-rich breast carcinoma +xref: NCI:C40365 +xref: UMLS_CUI:C1517894 +is_a: DOID:6741 ! bilateral breast cancer + +[Term] +id: DOID:7077 +name: malignant melanocytic peripheral nerve sheath tumor of mediastinum +synonym: "mediastinal melanocytic MPNST" EXACT [NCI2004_11_17:C6630] +xref: NCI:C6630 +xref: UMLS_CUI:C1334600 +is_a: DOID:5559 ! mediastinal cancer + +[Term] +id: DOID:7078 +name: malignant mediastinal peripheral nerve sheath tumor +synonym: "MPNST of mediastinum" EXACT [NCI2004_11_17:C6626] +is_obsolete: true + +[Term] +id: DOID:7079 +name: adult cystic teratoma +xref: NCI:C9012 +xref: SNOMEDCT_US_2015_03_01:42717009 +xref: UMLS_CUI:C1368888 +is_a: DOID:2660 ! cystic teratoma + +[Term] +id: DOID:7081 +name: lung mixed small cell and squamous cell carcinoma +alt_id: DOID:7080 +synonym: "combined small and large cell lung cancer" EXACT [] +synonym: "mixed small cell and squamous cell carcinoma of lung" RELATED [] +synonym: "small cell and large cell carcinoma of the lung" EXACT [NCI2004_11_17:C9424] +synonym: "small cell and squamous cell carcinoma of the lung" EXACT [NCI2004_11_17:C9423] +xref: NCI2009_04D:C9423 +xref: NCI:C9423 +xref: UMLS_CUI:C1334788 +is_a: DOID:5410 ! pulmonary neuroendocrine tumor + +[Term] +id: DOID:7083 +name: recurrent adult primary hepatoma +is_obsolete: true + +[Term] +id: DOID:7084 +name: recurrent adult primary liver cancer +synonym: "relapsed adult Liver cancer" EXACT [NCI2004_11_17:C7880] +is_obsolete: true + +[Term] +id: DOID:7086 +name: multicentric papillary thyroid carcinoma +xref: NCI:C37304 +xref: UMLS_CUI:C1334817 +is_a: DOID:3969 ! papillary thyroid carcinoma + +[Term] +id: DOID:7088 +name: columnar cell variant papillary carcinoma +xref: NCI:C35830 +xref: UMLS_CUI:C1333120 +is_a: DOID:3969 ! papillary thyroid carcinoma + +[Term] +id: DOID:7089 +name: tall cell variant papillary carcinoma +xref: NCI:C35558 +xref: UMLS_CUI:C1336695 +is_a: DOID:3969 ! papillary thyroid carcinoma + +[Term] +id: DOID:709 +name: splenic manifestation of hairy cell leukemia +xref: NCI:C7301 +xref: UMLS_CUI:C1336064 +is_a: DOID:285 ! hairy cell leukemia +is_a: DOID:710 ! splenic manifestation of leukemia + +[Term] +id: DOID:7095 +name: pediatric epithelioid sarcoma +xref: NCI:C8095 +xref: UMLS_CUI:C0279989 +is_a: DOID:6193 ! epithelioid sarcoma + +[Term] +id: DOID:7097 +name: macrocystic pattern testicular yolk sac tumor +xref: NCI:C39924 +xref: UMLS_CUI:C1515307 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:7099 +name: ovarian dermoid cyst with squamous cell carcinoma +is_obsolete: true + +[Term] +id: DOID:710 +name: splenic manifestation of leukemia +def: "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia." [url:http\://www.medilexicon.com/medicaldictionary.php?t=49026] +synonym: "splenic leukemia" RELATED [] +xref: NCI:C7296 +xref: UMLS_CUI:C1336065 +is_a: DOID:672 ! spleen cancer + +[Term] +id: DOID:7103 +name: diaphragma sellae meningioma +synonym: "meningioma of Diaphragm Sellae" EXACT [NCI2004_11_17:C5283] +xref: NCI:C5283 +xref: UMLS_CUI:C1333283 +is_a: DOID:3643 ! sella turcica neoplasm +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:7105 +name: epiglottis neoplasm +synonym: "Epiglottic tumor" EXACT [NCI2004_11_17:C4933] +synonym: "neoplasm of epiglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:126699008] +xref: NCI:C4933 +xref: SNOMEDCT_US_2015_03_01:126699008 +xref: UMLS_CUI:C1290353 +is_a: DOID:8002 ! supraglottis neoplasm + +[Term] +id: DOID:711 +name: refractory hairy cell leukemia +def: "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment." [url:http\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:http\://www.medterms.com/script/main/art.asp?articlekey=5274] +synonym: "Refractory Hairy cell Leukemia" EXACT [NCI2004_11_17:C8030] +xref: NCI:C8030 +xref: UMLS_CUI:C0279780 +is_a: DOID:285 ! hairy cell leukemia +is_a: DOID:712 ! refractory hematologic cancer + +[Term] +id: DOID:712 +name: refractory hematologic cancer +def: "A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment." [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863] +xref: NCI:C27357 +xref: UMLS_CUI:C1335724 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:7127 +name: radiation cystitis +synonym: "Irradiation cystitis" EXACT [ICD9CM_2006:595.82] +synonym: "Irradiation cystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:11251000] +xref: ICD10CM:N30.4 +xref: ICD9CM:595.82 +xref: SNOMEDCT_US_2015_03_01:11251000 +xref: UMLS_CUI:C0156270 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:713 +name: HCL-V +synonym: "Hairy cell leukaemia variant" EXACT [SNOMEDCT_2005_07_31:54087003] +synonym: "Hairy cell leukemia variant (disorder)" EXACT [SNOMEDCT_2005_07_31:277568007] +xref: NCI:C7401 +xref: SNOMEDCT_US_2015_03_01:277568007 +xref: SNOMEDCT_US_2015_03_01:54087003 +xref: UMLS_CUI:C0349633 +is_a: DOID:285 ! hairy cell leukemia + +[Term] +id: DOID:7132 +name: urinary bladder small cell neuroendocrine carcinoma +synonym: "small cell neuroendocrine carcinoma of the urinary bladder" RELATED [] +synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [NCI2004_11_17:C9461] +xref: NCI:C9461 +xref: UMLS_CUI:C1332564 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:7133 +name: gallbladder small cell carcinoma +synonym: "Oat cell carcinoma of the gallbladder" EXACT [NCI2004_11_17:C6763] +xref: NCI:C6763 +xref: UMLS_CUI:C1333759 +is_a: DOID:4948 ! gallbladder carcinoma + +[Term] +id: DOID:7134 +name: esophagus small cell carcinoma +synonym: "Oat cell carcinoma of esophagus" EXACT [NCI2004_11_17:C6762] +xref: NCI:C6762 +xref: UMLS_CUI:C1112474 +is_a: DOID:1107 ! esophageal carcinoma + +[Term] +id: DOID:7136 +name: ampulla of Vater small cell carcinoma +synonym: "ampullary small cell carcinoma" EXACT [] +xref: NCI:C6655 +xref: UMLS_CUI:C1332250 +is_a: DOID:4932 ! ampulla of Vater carcinoma + +[Term] +id: DOID:7138 +name: cystitis cystica +synonym: "cystitis cystica (disorder)" EXACT [SNOMEDCT_2005_07_31:13285005] +xref: ICD9CM:595.81 +xref: NCI:C96230 +xref: SNOMEDCT_US_2015_03_01:13285005 +xref: UMLS_CUI:C0152262 +is_a: DOID:1679 ! cystitis + +[Term] +id: DOID:7139 +name: endometrial small cell carcinoma +xref: NCI:C40155 +xref: UMLS_CUI:C1516858 +is_a: DOID:2871 ! endometrial carcinoma + +[Term] +id: DOID:7140 +name: Bartholin's gland small cell carcinoma +synonym: "Bartholin gland small cell carcinoma" NARROW [] +xref: NCI:C40298 +xref: UMLS_CUI:C1511051 +is_a: DOID:3999 ! Bartholin's gland carcinoma + +[Term] +id: DOID:7141 +name: prostate small cell carcinoma +synonym: "prostate Oat cell carcinoma" EXACT [NCI2004_11_17:C6766] +synonym: "small cell carcinoma of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:396198006] +xref: NCI:C6766 +xref: SNOMEDCT_US_2015_03_01:396198006 +xref: UMLS_CUI:C1300585 +is_a: DOID:10286 ! prostate carcinoma + +[Term] +id: DOID:7142 +name: thymus small cell carcinoma +synonym: "small cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6460] +xref: NCI:C6460 +xref: UMLS_CUI:C1335980 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:7144 +name: laryngeal small cell carcinoma +synonym: "small cell carcinoma of Larynx" EXACT [NCI2004_11_17:C6025] +xref: NCI:C6025 +xref: UMLS_CUI:C1334378 +is_a: DOID:2600 ! laryngeal carcinoma + +[Term] +id: DOID:7145 +name: papillary cystic tumor +synonym: "Papillary cystic neoplasm" EXACT [NCI2004_11_17:C4179] +synonym: "Papillary cystic tumour" EXACT [SNOMEDCT_2005_07_31:189696009] +synonym: "solid pseudopapillary tumour" EXACT [SNOMEDCT_2005_07_31:27078002] +is_obsolete: true + +[Term] +id: DOID:7146 +name: Langerhans cell sarcoma +def: "A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones." [url:http\://en.wikipedia.org/wiki/Langerhans_cell_sarcoma, url:http\://www.wrongdiagnosis.com/l/langerhans_cell_sarcoma/intro.htm] +xref: ICD10CM:C96.4 +xref: MSH:D054752 +xref: NCI:C6921 +xref: SNOMEDCT_US_2015_03_01:128814006 +xref: UMLS_CUI:C1260327 +is_a: DOID:5621 ! histiocytic and dendritic cell cancer + +[Term] +id: DOID:7147 +name: ankylosing spondylitis +def: "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Ankylosing_spondylitis, url:http\://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000420.htm, url:http\://www.spondylitis.org/about/as.aspx] +synonym: "Bekhterev syndrome" EXACT [] +synonym: "Bekhterev's disease" EXACT [] +synonym: "Marie-Strumpell disease" EXACT [] +xref: EFO:0003898 +xref: ICD10CM:M45 +xref: ICD9CM:720.0 +xref: MSH:D013167 +xref: NCI:C84564 +xref: ORDO:825 +xref: SNOMEDCT_US_2015_03_01:156619005 +xref: SNOMEDCT_US_2015_03_01:9631008 +xref: UMLS_CUI:C0038013 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:7148 +name: rheumatoid arthritis +def: "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." [url:http\://en.wikipedia.org/wiki/Rheumatoid_arthritis, url:http\://www.arthritis.org/disease-center.php?disease_id=31, url:http\://www.mayoclinic.com/health/rheumatoid-arthritis/DS00020, url:http\://www.medicinenet.com/rheumatoid_arthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000431.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Arthritis or polyarthritis, rheumatic" EXACT [MTHICD9_2006:714.0] +synonym: "atrophic Arthritis" EXACT [NCI2004_11_17:C27206] +xref: EFO:0000685 +xref: ICD10CM:M06.9 +xref: ICD9CM:714.0 +xref: KEGG:05323 +xref: MSH:D001172 +xref: NCI:C27206 +xref: NCI:C2884 +xref: OMIM:180300 +xref: SNOMEDCT_US_2015_03_01:156471009 +xref: SNOMEDCT_US_2015_03_01:156481008 +xref: SNOMEDCT_US_2015_03_01:287010008 +xref: SNOMEDCT_US_2015_03_01:69896004 +xref: UMLS_CUI:C0003873 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:7149 +name: metastatic parathyroid cancer +synonym: "metastatic Parathyroid carcinoma" EXACT [NCI2004_11_17:C9044] +is_obsolete: true + +[Term] +id: DOID:715 +name: T-cell leukemia +xref: MSH:D015458 +xref: UMLS_CUI:C0023492 +is_a: DOID:10747 ! lymphoid leukemia + +[Term] +id: DOID:7150 +name: recurrent parathyroid cancer +synonym: "recurrent Parathyroid carcinoma" EXACT [NCI2004_11_17:C7828] +is_obsolete: true + +[Term] +id: DOID:7152 +name: prostate stromal sarcoma +def: "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate." [url:http\://www.gfmer.ch/selected_images_v2/detail_list.php?cat1=13&cat3=1021&stype=d] +synonym: "Stromal sarcoma of the prostate" EXACT [NCI2004_11_17:C5524] +xref: NCI:C5524 +xref: UMLS_CUI:C1335521 +is_a: DOID:4054 ! prostate sarcoma + +[Term] +id: DOID:7154 +name: anaplastic oligodendroglioma +synonym: "Oligodendroglioma, anaplastic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:3102004] +synonym: "Undifferentiated Oligodendroglioma" EXACT [NCI2004_11_17:C4326] +is_obsolete: true + +[Term] +id: DOID:7155 +name: adult undifferentiated oligodendroglioma +is_obsolete: true + +[Term] +id: DOID:7156 +name: anaplastic childhood oligodendroglioma +synonym: "Undifferentiated pediatric Oligodendroglioma" EXACT [NCI2004_11_17:C5447] +is_obsolete: true + +[Term] +id: DOID:7157 +name: metastatic squamous neck cancer with occult primary +synonym: "squamous cell carcinoma metastatic to the neck with Occult primary" EXACT [NCI2004_11_17:C7713] +is_obsolete: true + +[Term] +id: DOID:7158 +name: recurrent metastatic squamous cell cancer to the neck with occult primary +synonym: "relapsed metastatic Epidermoid carcinoma to the neck with Occult primary" EXACT [NCI2004_11_17:C9117] +is_obsolete: true + +[Term] +id: DOID:716 +name: Human T-lymphotropic virus 2 infectious disease +def: "A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis." [url:http\://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf, url:http\://www.communitybloodservices.org/pdf/inserts/Abbott%20Prism%20HTLV%20I%20II.pdf] +synonym: "HTLV-II infectious disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7160 +name: rectum leiomyoma +synonym: "leiomyoma of rectum" EXACT [NCI2004_11_17:C5552] +xref: NCI:C5552 +xref: UMLS_CUI:C1335682 +is_a: DOID:5143 ! large bowel leiomyoma + +[Term] +id: DOID:7162 +name: recurrent larynx cancer +synonym: "relapsed carcinoma of the Larynx" EXACT [NCI2004_11_17:C4034] +is_obsolete: true + +[Term] +id: DOID:7164 +name: mediastinum mature teratoma +synonym: "Mature teratoma of mediastinum" EXACT [NCI2004_11_17:C7104] +is_obsolete: true + +[Term] +id: DOID:7165 +name: subacute thyroiditis +synonym: "De Quervain's thyroiditis" EXACT [SNOMEDCT_2005_07_31:237530000] +synonym: "de Quervain's thyroiditis" EXACT [SNOMEDCT_2005_07_31:190296009] +synonym: "de Quervain's thyroiditis" EXACT [SNOMEDCT_2005_07_31:154666006] +synonym: "Giant-cell thyroiditis" EXACT [SNOMEDCT_2005_07_31:237531001] +synonym: "Granulomatous thyroiditis" EXACT [SNOMEDCT_2005_07_31:237532008] +synonym: "Granulomatous thyroiditis" EXACT [MTHICD9_2006:245.1] +synonym: "Subacute Granulomatous Thyroiditis" EXACT [NCI2004_11_17:C35828] +synonym: "Subacute Thyroiditis" EXACT [NCI2004_11_17:C35071] +synonym: "Subacute thyroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:38727009] +xref: ICD10CM:E06.1 +xref: ICD9CM:245.1 +xref: MSH:D013968 +xref: NCI:C35071 +xref: NCI:C35828 +xref: SNOMEDCT_US_2015_03_01:154666006 +xref: SNOMEDCT_US_2015_03_01:190296009 +xref: SNOMEDCT_US_2015_03_01:237530000 +xref: SNOMEDCT_US_2015_03_01:237531001 +xref: SNOMEDCT_US_2015_03_01:237532008 +xref: SNOMEDCT_US_2015_03_01:237533003 +xref: SNOMEDCT_US_2015_03_01:38727009 +xref: SNOMEDCT_US_2015_03_01:428041004 +xref: UMLS_CUI:C0040149 +is_a: DOID:7166 ! thyroiditis + +[Term] +id: DOID:7166 +name: thyroiditis +comment: Updating to more specific UMLS_CUI from C0029495 to C0040147. +xref: ICD10CM:E06 +xref: ICD10CM:E06.9 +xref: ICD9CM:245 +xref: ICD9CM:245.9 +xref: MSH:D013966 +xref: NCI:C26894 +xref: SNOMEDCT_US_2015_03_01:154664009 +xref: SNOMEDCT_US_2015_03_01:154668007 +xref: SNOMEDCT_US_2015_03_01:190301009 +xref: SNOMEDCT_US_2015_03_01:82119001 +xref: UMLS_CUI:C0040147 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:7168 +name: lung occult adenocarcinoma +synonym: "occult adenocarcinoma of lung" RELATED [] +synonym: "Occult adenocarcinoma of the lung" EXACT [NCI2004_11_17:C6699] +xref: NCI:C6699 +xref: UMLS_CUI:C1335096 +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:7169 +name: lung occult large cell carcinoma +synonym: "Occult large cell carcinoma of the lung" EXACT [NCI2004_11_17:C6685] +xref: NCI:C6685 +xref: UMLS_CUI:C1335095 +is_a: DOID:4556 ! lung large cell carcinoma + +[Term] +id: DOID:7170 +name: recurrent non-cutaneous melanoma +is_obsolete: true + +[Term] +id: DOID:7171 +name: recurrent cutaneous melanoma +synonym: "recurrent malignant melanoma" EXACT [NCI2004_11_17:C7087] +synonym: "recurrent melanoma of skin" EXACT [NCI2004_11_17:C9097] +is_obsolete: true + +[Term] +id: DOID:7173 +name: cloacogenic carcinoma +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cloacogenic anal carcinoma" EXACT [NCI2004_11_17:C8255] +synonym: "Cloacogenic carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:84570003] +xref: MSH:C562739 +xref: NCI:C8255 +xref: OMIM:105580 +xref: SNOMEDCT_US_2015_03_01:84570003 +xref: UMLS_CUI:C0334273 +is_a: DOID:5525 ! anal squamous cell carcinoma + +[Term] +id: DOID:7174 +name: anus basaloid carcinoma +synonym: "anal Basaloid carcinoma" EXACT [NCI2004_11_17:C8256] +synonym: "basaloid carcinoma of the anus" RELATED [] +xref: NCI:C8256 +xref: UMLS_CUI:C0280470 +is_a: DOID:5525 ! anal squamous cell carcinoma + +[Term] +id: DOID:7175 +name: anal Buschke-Lowenstein tumor +synonym: "anal Giant (malignant) Condyloma" EXACT [NCI2004_11_17:C7470] +xref: NCI:C7470 +xref: UMLS_CUI:C1332278 +is_a: DOID:5525 ! anal squamous cell carcinoma + +[Term] +id: DOID:7177 +name: anal canal squamous cell carcinoma +def: "An anal canal cancer that derives_from epithelial squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] +xref: NCI:C7469 +xref: UMLS_CUI:C1332262 +is_a: DOID:0050688 ! anal canal cancer + +[Term] +id: DOID:7179 +name: mixed eosinophil-basophil adenoma +synonym: "mixed acidophil-basophil adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:48619006] +xref: NCI:C4148 +xref: SNOMEDCT_US_2015_03_01:48619006 +xref: UMLS_CUI:C0334312 +is_a: DOID:3829 ! pituitary adenoma + +[Term] +id: DOID:718 +name: autoimmune hemolytic anemia +def: "An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies." [sn:IEDB, url:http\://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Autoimmune haemolytic anaemia" EXACT [SNOMEDCT_2005_07_31:154803002] +synonym: "Autoimmune hemolytic anemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191215000] +xref: CSP:0427-1178 +xref: ICD9CM:283.0 +xref: MSH:D000744 +xref: NCI:C34378 +xref: OMIM:205700 +xref: SNOMEDCT_US_2015_03_01:154803002 +xref: SNOMEDCT_US_2015_03_01:191209000 +xref: SNOMEDCT_US_2015_03_01:191215000 +xref: SNOMEDCT_US_2015_03_01:25121006 +xref: SNOMEDCT_US_2015_03_01:413603009 +xref: UMLS_CUI:C0002880 +is_a: DOID:0060050 ! autoimmune disease of blood + +[Term] +id: DOID:7181 +name: benign dermal neurilemmoma +synonym: "benign Schwannoma of the skin" EXACT [NCI2004_11_17:C5569] +xref: NCI:C5569 +xref: UMLS_CUI:C1332490 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:7186 +name: metastatic childhood sarcoma of soft tissue +synonym: "metastatic pediatric sarcoma of the soft tissue" EXACT [NCI2004_11_17:C8066] +is_obsolete: true + +[Term] +id: DOID:7187 +name: subacute lymphocytic thyroiditis +synonym: "Subacute lymphocytic thyroiditis" EXACT [SNOMEDCT_2005_07_31:18018005] +synonym: "Subacute lymphocytic thyroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:361126006] +xref: NCI:C35829 +xref: SNOMEDCT_US_2015_03_01:18018005 +xref: SNOMEDCT_US_2015_03_01:361126006 +xref: UMLS_CUI:C1306804 +is_a: DOID:7166 ! thyroiditis + +[Term] +id: DOID:7188 +name: autoimmune thyroiditis +alt_id: DOID:0050435 +def: "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues." [sn:IEDB] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Chronic Lymphocytic Thyroiditis" EXACT [] +synonym: "Hashimoto thyroiditis" EXACT [] +synonym: "Hashimoto's Disease" EXACT [] +synonym: "Hashimoto's syndrome" EXACT [] +synonym: "Hashimoto's thyroiditis" EXACT [] +synonym: "Lymphocytic Thyroiditis" EXACT [NCI2004_11_17:C38766] +xref: ICD10CM:E06.3 +xref: MSH:D013967 +xref: NCI:C38766 +xref: SNOMEDCT_US_2015_03_01:190297000 +xref: SNOMEDCT_US_2015_03_01:21983002 +xref: SNOMEDCT_US_2015_03_01:66944004 +xref: UMLS_CUI:C0920350 +is_a: DOID:0060005 ! autoimmune disease of endocrine system + +[Term] +id: DOID:7191 +name: ovarian endometrioid cystadenoma +xref: NCI:C40075 +xref: UMLS_CUI:C1518713 +is_a: DOID:3269 ! ovarian cystadenoma + +[Term] +id: DOID:7192 +name: hereditary conventional renal cell carcinoma +xref: NCI:C36260 +xref: UMLS_CUI:C1333985 +is_a: DOID:4455 ! hereditary renal cell carcinoma + +[Term] +id: DOID:7198 +name: maxillary sinus adenoid cystic carcinoma +synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [] +synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [NCI2004_11_17:C6239] +xref: NCI:C6239 +xref: UMLS_CUI:C1334643 +is_a: DOID:1357 ! maxillary sinus cancer + +[Term] +id: DOID:720 +name: normocytic anemia +synonym: "ANEMIA NORMOCYTIC" EXACT [MTH:NOCODE] +synonym: "Normocytic anemia (disorder)" EXACT [SNOMEDCT_2005_07_31:300980002] +xref: NCI:C35142 +xref: SNOMEDCT_US_2015_03_01:300980002 +xref: UMLS_CUI:C0085577 +is_a: DOID:2355 ! anemia + +[Term] +id: DOID:7202 +name: intermediate malignant teratoma +synonym: "Intermediate Immature teratoma" EXACT [NCI2004_11_17:C4288] +synonym: "malignant teratoma, intermediate (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:21912003] +xref: NCI:C4288 +xref: SNOMEDCT_US_2015_03_01:21912003 +xref: UMLS_CUI:C0334522 +is_a: DOID:5563 ! malignant teratoma + +[Term] +id: DOID:7206 +name: melanomatosis +xref: NCI:C9499 +xref: UMLS_CUI:C1334691 +is_a: DOID:1909 ! melanoma + +[Term] +id: DOID:7207 +name: lung combined large cell neuroendocrine carcinoma +synonym: "combined large cell neuroendocrine carcinoma of lung" RELATED [] +synonym: "pulmonary Combined large cell neuroendocrine carcinoma" EXACT [NCI2004_11_17:C7267] +xref: NCI:C7267 +xref: UMLS_CUI:C1333122 +is_a: DOID:6658 ! pulmonary large cell neuroendocrine carcinoma + +[Term] +id: DOID:7210 +name: psammomatous meningioma +synonym: "Psammomatous meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:38431002] +xref: MSH:D008579 +xref: NCI:C4331 +xref: SNOMEDCT_US_2015_03_01:38431002 +xref: UMLS_CUI:C0334607 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7211 +name: fibrous meningioma +synonym: "Fibroblastic meningioma" EXACT [NCI2004_11_17:C4330] +synonym: "fibrous meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:511008] +xref: MSH:D008579 +xref: NCI:C4330 +xref: SNOMEDCT_US_2015_03_01:511008 +xref: UMLS_CUI:C0334606 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7212 +name: meningothelial meningioma +synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:68944005] +synonym: "Meningotheliomatous meningioma" EXACT [NCI2004_11_17:C4329] +xref: MSH:D008579 +xref: NCI:C4329 +xref: SNOMEDCT_US_2015_03_01:68944005 +xref: UMLS_CUI:C0334605 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7213 +name: transitional meningioma +synonym: "transitional (mixed) meningioma" EXACT [NCI2004_11_17:C4333] +synonym: "transitional meningioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:64967004] +xref: MSH:D008579 +xref: NCI:C4333 +xref: SNOMEDCT_US_2015_03_01:64967004 +xref: UMLS_CUI:C0334611 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7214 +name: noninvasive malignant thymoma +synonym: "Thymoma malignant Noninvasive" EXACT [NCI2004_11_17:C9080] +xref: NCI:C9080 +xref: UMLS_CUI:C0278847 +is_a: DOID:3275 ! thymoma + +[Term] +id: DOID:7215 +name: relapsed childhood ependymoma +synonym: "relapsed pediatric Ependymoma" EXACT [NCI2004_11_17:C8579] +is_obsolete: true + +[Term] +id: DOID:722 +name: spontaneous abortion +synonym: "miscarriage" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7221 +name: gallbladder papillary carcinoma +synonym: "Papillary carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5743] +xref: NCI:C5743 +xref: UMLS_CUI:C1333753 +is_a: DOID:3500 ! gallbladder adenocarcinoma + +[Term] +id: DOID:7222 +name: gallbladder pleomorphic giant cell adenocarcinoma +synonym: "Pleomorphic Giant cell adenocarcinoma of the gallbladder" EXACT [NCI2004_11_17:C5838] +is_a: DOID:3500 ! gallbladder adenocarcinoma + +[Term] +id: DOID:7223 +name: breast giant fibroadenoma +synonym: "Giant Fibroadenoma" EXACT [NCI2004_11_17:C4273] +synonym: "Giant fibroadenoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254846003] +xref: NCI:C4273 +xref: SNOMEDCT_US_2015_03_01:254846003 +xref: UMLS_CUI:C0346157 +is_a: DOID:1618 ! breast fibroadenoma + +[Term] +id: DOID:7224 +name: spinal meninges cancer +synonym: "malignant neoplasm of spinal meninges (disorder)" EXACT [SNOMEDCT_2005_07_31:363476006] +synonym: "malignant neoplasm of spinal meninges NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188320007] +xref: ICD10CM:C70.1 +xref: ICD9CM:192.3 +xref: SNOMEDCT_US_2015_03_01:188320007 +xref: SNOMEDCT_US_2015_03_01:363476006 +xref: SNOMEDCT_US_2015_03_01:94069006 +xref: UMLS_CUI:C0153647 +is_a: DOID:5612 ! spinal cancer + +[Term] +id: DOID:7230 +name: postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma +synonym: "CLL/SLL with IGVH SHM" EXACT [NCI2004_11_17:C37201] +xref: NCI:C37201 +xref: UMLS_CUI:C1333037 +is_a: DOID:6354 ! CLL/SLL + +[Term] +id: DOID:7231 +name: pediatric CNS embryonal cell carcinoma +synonym: "Embryonal carcinoma of pediatric CNS" EXACT [NCI2004_11_17:C6208] +xref: NCI:C6208 +xref: UMLS_CUI:C1377605 +is_a: DOID:6052 ! central nervous system childhood germ cell tumor + +[Term] +id: DOID:7232 +name: central nervous system embryonal carcinoma +synonym: "Embryonal carcinoma of CNS" EXACT [NCI2004_11_17:C7010] +synonym: "embryonal carcinoma of the central nervous system" RELATED [] +xref: NCI:C7010 +xref: UMLS_CUI:C1333377 +is_a: DOID:4439 ! central nervous system germ cell tumor + +[Term] +id: DOID:7233 +name: adult central nervous system embryonal carcinoma +synonym: "Embryonal carcinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5790] +xref: NCI:C5790 +xref: UMLS_CUI:C1370503 +is_a: DOID:5349 ! central nervous system adult germ cell tumor + +[Term] +id: DOID:7234 +name: pancreatic colloid cystadenocarcinoma +synonym: "mucinous Cystadencarcinoma of pancreas" EXACT [NCI2004_11_17:C5713] +xref: NCI:C5713 +xref: UMLS_CUI:C1335308 +is_a: DOID:4073 ! pancreatic cystadenocarcinoma + +[Term] +id: DOID:7235 +name: pancreatic mucinous cystadenoma +synonym: "pancreatic mucinous cystic neoplasm" EXACT [] +xref: NCI:C41247 +xref: UMLS_CUI:C1518872 +is_a: DOID:3918 ! pancreatic cystadenoma + +[Term] +id: DOID:7236 +name: pancreatic invasive mucinous cystadenocarcinoma +xref: NCI:C41246 +xref: UMLS_CUI:C1518870 +is_a: DOID:7234 ! pancreatic colloid cystadenocarcinoma + +[Term] +id: DOID:7237 +name: pancreatic non-invasive mucinous cystadenocarcinoma +xref: NCI:C41245 +xref: UMLS_CUI:C1518874 +is_a: DOID:7234 ! pancreatic colloid cystadenocarcinoma + +[Term] +id: DOID:7238 +name: AIDS-related gastric Kaposi's sarcoma +def: "An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach." [url:http\://jco.ascopubs.org/cgi/content/short/28/16/e250] +synonym: "AIDS-Related Kaposi's sarcoma of stomach" EXACT [NCI2004_11_17:C5624] +is_obsolete: true + +[Term] +id: DOID:724 +name: female stress incontinence +synonym: "female urinary stress incontinence (finding)" EXACT [SNOMEDCT_2005_07_31:60241006] +synonym: "Stress incontinence - female" EXACT [SNOMEDCT_2005_07_31:266668007] +synonym: "Stress incontinence - female" EXACT [SNOMEDCT_2005_07_31:156028007] +synonym: "Stress incontinence - female (finding)" EXACT [SNOMEDCT_2005_07_31:198408003] +synonym: "Stress incontinence, female" EXACT [ICD9CM_2006:625.6] +xref: ICD9CM:625.6 +xref: NCI:C35042 +xref: SNOMEDCT_US_2015_03_01:156028007 +xref: SNOMEDCT_US_2015_03_01:198408003 +xref: SNOMEDCT_US_2015_03_01:266668007 +xref: SNOMEDCT_US_2015_03_01:60241006 +xref: UMLS_CUI:C0038437 +is_a: DOID:365 ! bladder disease + +[Term] +id: DOID:7241 +name: uterine corpus apoplectic leiomyoma +xref: NCI:C40165 +xref: UMLS_CUI:C1519852 +is_a: DOID:7242 ! uterine corpus cellular leiomyoma + +[Term] +id: DOID:7242 +name: uterine corpus cellular leiomyoma +xref: NCI:C40163 +xref: UMLS_CUI:C1519845 +is_a: DOID:0060095 ! uterine benign neoplasm + +[Term] +id: DOID:7244 +name: bladder urachal urothelial carcinoma +xref: NCI:C39844 +xref: UMLS_CUI:C1511207 +is_a: DOID:5958 ! bladder urachal carcinoma + +[Term] +id: DOID:7245 +name: metastatic endometrial adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:7246 +name: lymphoepithelioma-like acinar prostate adenocarcinoma +synonym: "lymphoepithelioma-like variant acinar prostate adenocarcinoma" EXACT [] +xref: NCI:C39885 +xref: UMLS_CUI:C1515864 +is_a: DOID:2526 ! prostate adenocarcinoma + +[Term] +id: DOID:7252 +name: cerebral meninges malignant neoplasm +synonym: "malignant neoplasm of cerebral meninges (disorder)" EXACT [SNOMEDCT_2005_07_31:363474009] +synonym: "malignant neoplasm of cerebral meninges NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188316008] +is_obsolete: true + +[Term] +id: DOID:7256 +name: anaplastic urethra carcinoma +synonym: "Undifferentiated carcinoma of the urethra" EXACT [NCI2004_11_17:C6168] +is_obsolete: true + +[Term] +id: DOID:7262 +name: gallbladder anaplastic carcinoma +synonym: "Undifferentiated gallbladder carcinoma" EXACT [NCI2004_11_17:C9167] +is_obsolete: true + +[Term] +id: DOID:7263 +name: selective IgD deficiency disease +synonym: "Selective IgD Immunodeficiency" EXACT [NCI2004_11_17:C27144] +synonym: "Selective immunoglobulin D deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234541006] +xref: NCI:C27144 +xref: SNOMEDCT_US_2015_03_01:234541006 +xref: UMLS_CUI:C0398695 +is_a: DOID:6025 ! selective immunoglobulin deficiency disease + +[Term] +id: DOID:7266 +name: familiar fallopian tube carcinoma +xref: NCI:C40455 +xref: UMLS_CUI:C1512418 +is_a: DOID:1963 ! fallopian tube carcinoma + +[Term] +id: DOID:7267 +name: lung clear cell carcinoma +xref: SNOMEDCT_US_2015_03_01:254630009 +xref: UMLS_CUI:C0345959 +is_a: DOID:3910 ! lung adenocarcinoma + +[Term] +id: DOID:7268 +name: solid carcinoma of lung with mucus formation +synonym: "pulmonary solid adenocarcinoma with Mucin" EXACT [NCI2004_11_17:C5651] +is_obsolete: true + +[Term] +id: DOID:7269 +name: cribriform variant testicular seminoma +xref: NCI:C40957 +xref: UMLS_CUI:C1515292 +is_a: DOID:5842 ! testis seminoma + +[Term] +id: DOID:727 +name: premenstrual tension +xref: ICD10CM:N94.3 +xref: ICD9CM:625.4 +xref: MSH:D011293 +xref: SNOMEDCT_US_2015_03_01:123076003 +xref: SNOMEDCT_US_2015_03_01:156026006 +xref: SNOMEDCT_US_2015_03_01:198407008 +xref: SNOMEDCT_US_2015_03_01:82639001 +xref: UMLS_CUI:C0376356 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:7273 +name: adrenal gland tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:728 +name: nodular episcleritis +synonym: "nodular episcleritis (disorder)" EXACT [SNOMEDCT_2005_07_31:70558001] +xref: ICD10CM:H15.12 +xref: ICD9CM:379.02 +xref: SNOMEDCT_US_2015_03_01:70558001 +xref: UMLS_CUI:C0155352 +is_a: DOID:11343 ! scleral disease + +[Term] +id: DOID:7280 +name: congenital epulis +synonym: "Congenital Epulides" EXACT [] +synonym: "Congenital Epulis" EXACT [NCI2004_11_17:C4675] +xref: MSH:D005887 +xref: NCI:C4675 +xref: SNOMEDCT_US_2015_03_01:25511009 +xref: SNOMEDCT_US_2015_03_01:360525006 +xref: UMLS_CUI:C0376319 +is_a: DOID:5337 ! epulis + +[Term] +id: DOID:7281 +name: uterine corpus adenocarcinofibroma +is_a: DOID:4114 ! uterine body mixed cancer +is_a: DOID:4422 ! malignant adenofibroma + +[Term] +id: DOID:7284 +name: skene gland carcinoma +alt_id: DOID:6722 +synonym: "carcinoma of the Paraurethral gland" EXACT [NCI2004_11_17:C7371] +synonym: "paraurethral gland carcinoma" EXACT [] +xref: NCI:C39863 +xref: NCI:C7371 +xref: UMLS_CUI:C1335352 +xref: UMLS_CUI:C1527427 +is_a: DOID:14059 ! paraurethral gland cancer + +[Term] +id: DOID:7289 +name: secretory uterine corpus endometrioid adenocarcinoma +xref: NCI:C27839 +xref: UMLS_CUI:C1336907 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:7293 +name: mucin-rich endometrial endometrioid adenocarcinoma +xref: NCI:C8717 +xref: UMLS_CUI:C1513711 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:7295 +name: recurrent childhood soft tissue sarcoma +synonym: "relapsed pediatric sarcoma of the soft tissue" EXACT [NCI2004_11_17:C8067] +is_obsolete: true + +[Term] +id: DOID:7296 +name: nonmetastatic childhood soft tissue sarcoma +synonym: "Non-metastatic pediatric soft tissue sarcoma" EXACT [NCI2004_11_17:C8065] +is_obsolete: true + +[Term] +id: DOID:7297 +name: childhood extraosseous osteosarcoma +synonym: "pediatric extraskeletal Osteosarcoma" EXACT [NCI2004_11_17:C27376] +xref: NCI:C27376 +xref: UMLS_CUI:C1332968 +is_a: DOID:3357 ! extraosseous osteosarcoma + +[Term] +id: DOID:730 +name: urethral benign neoplasm +synonym: "neoplasm of urethra (disorder)" EXACT [SNOMEDCT_2005_07_31:126883004] +synonym: "neoplasm. urethra" EXACT [NCI2004_11_17:C3428] +xref: MSH:D014523 +xref: NCI:C3428 +xref: SNOMEDCT_US_2015_03_01:126883004 +xref: UMLS_CUI:C0041971 +is_a: DOID:731 ! urinary system benign neoplasm + +[Term] +id: DOID:7301 +name: inferior vena cava leiomyosarcoma +synonym: "leiomyosarcoma of the Inferior Vena Cava" EXACT [NCI2004_11_17:C5372] +is_obsolete: true + +[Term] +id: DOID:7302 +name: endodermal sinus pattern testicular yolk sac tumor +xref: NCI:C39927 +xref: UMLS_CUI:C1515303 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:7304 +name: breast carcinoma metastatic to the brain +is_obsolete: true + +[Term] +id: DOID:7305 +name: astroblastoma +synonym: "Astroblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:48952003] +xref: MSH:D018302 +xref: NCI:C4324 +xref: SNOMEDCT_US_2015_03_01:48952003 +xref: UMLS_CUI:C0334587 +is_a: DOID:3069 ! astrocytoma + +[Term] +id: DOID:7306 +name: anaplastic oligoastrocytoma +synonym: "anaplastic oligoastrocytoma" EXACT [SNOMEDCT_2005_07_31:22217002] +synonym: "anaplastic oligoastrocytoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:253072003] +synonym: "WHO grade III mixed glioma" EXACT [NCI2004_11_17:C6959] +is_obsolete: true + +[Term] +id: DOID:731 +name: urinary system benign neoplasm +def: "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] +synonym: "neoplasm of urinary system (disorder)" EXACT [SNOMEDCT_2005_07_31:126879004] +synonym: "tumor of the urinary system" EXACT [NCI2004_11_17:C3431] +synonym: "tumor of urinary tract (disorder)" EXACT [SNOMEDCT_2005_07_31:254913005] +synonym: "urinary tract neoplasm" EXACT [CSP2005:2021-0179] +xref: MSH:D014571 +xref: NCI:C3431 +xref: SNOMEDCT_US_2015_03_01:126879004 +xref: SNOMEDCT_US_2015_03_01:254913005 +xref: UMLS_CUI:C0042076 +is_a: DOID:0060085 ! organ system benign neoplasm + +[Term] +id: DOID:7312 +name: breast adenomyoepithelial adenosis +xref: NCI:C40391 +xref: UMLS_CUI:C1511283 +is_a: DOID:5998 ! microglandular adenosis + +[Term] +id: DOID:7315 +name: Jewett-Marshall bladder cancer +synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [] +synonym: "Jewett-Marshall stage D2 bladder cancer" RELATED [] +synonym: "stage IVB urinary bladder carcinoma" EXACT [NCI2004_11_17:C9368] +xref: NCI:C9368 +xref: UMLS_CUI:C1336362 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:7316 +name: inherited neuropathy +synonym: "hereditary neuropathy" EXACT [CSP2005:2042-7013] +is_obsolete: true + +[Term] +id: DOID:7319 +name: axonal neuropathy +synonym: "Axonal neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:60703000] +xref: NCI:C27301 +xref: SNOMEDCT_US_2015_03_01:60703000 +xref: UMLS_CUI:C0270921 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:732 +name: urethral disease +def: "A urinary system disease that is located_in the urethra." [url:http\://www.nlm.nih.gov/medlineplus/urethraldisorders.html] +synonym: "disorder of urethra (disorder)" EXACT [SNOMEDCT_2005_07_31:4985009] +synonym: "urethra disease" EXACT [NCI2004_11_17:C26903] +synonym: "urethra disorder" EXACT [CSP2005:3045-8915] +synonym: "urethral disorder, unspecified" EXACT [SNOMEDCT_2005_07_31:197945001] +synonym: "urethral disorder, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:198551002] +xref: ICD10CM:N36.9 +xref: MSH:D014522 +xref: NCI:C26903 +xref: SNOMEDCT_US_2015_03_01:197945001 +xref: SNOMEDCT_US_2015_03_01:198551002 +xref: SNOMEDCT_US_2015_03_01:4985009 +xref: UMLS_CUI:C0041969 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:7320 +name: ovarian serous cystadenofibroma +xref: NCI:C40032 +xref: UMLS_CUI:C0877572 +is_a: DOID:5474 ! ovarian serous adenofibroma + +[Term] +id: DOID:7323 +name: primary cerebral lymphoma in immunocompetent host +is_obsolete: true + +[Term] +id: DOID:7324 +name: hepatitis C virus related hepatocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:7325 +name: hepatitis B virus related hepatocellular carcinoma +is_obsolete: true + +[Term] +id: DOID:7326 +name: cranial pseudosarcomatous fasciitis +xref: NCI:C27248 +xref: UMLS_CUI:C1333162 +is_a: DOID:7327 ! pseudosarcomatous fibromatosis + +[Term] +id: DOID:7327 +name: pseudosarcomatous fibromatosis +synonym: "Fasciitis - nodular" EXACT [SNOMEDCT_2005_07_31:268106003] +synonym: "Fasciitis - nodular" EXACT [SNOMEDCT_2005_07_31:156729009] +synonym: "nodular fasciitis" EXACT [MTHICD9_2006:728.79] +synonym: "nodular fasciitis (disorder)" EXACT [SNOMEDCT_2005_07_31:400138001] +synonym: "nodular fasciitis (disorder)" EXACT [SNOMEDCT_2005_07_31:35548007] +synonym: "Pseudosarcomatous Fasciitis" EXACT [NCI2004_11_17:C3827] +synonym: "Pseudosarcomatous fibromatosis" EXACT [SNOMEDCT_2005_07_31:47284001] +synonym: "Pseudosarcomatous fibromatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:203057005] +xref: ICD10CM:M72.4 +xref: NCI:C3827 +xref: SNOMEDCT_US_2015_03_01:156729009 +xref: SNOMEDCT_US_2015_03_01:203057005 +xref: SNOMEDCT_US_2015_03_01:268106003 +xref: SNOMEDCT_US_2015_03_01:35548007 +xref: SNOMEDCT_US_2015_03_01:400138001 +xref: SNOMEDCT_US_2015_03_01:47284001 +xref: SNOMEDCT_US_2015_03_01:703616008 +xref: UMLS_CUI:C0410005 +is_a: DOID:9598 ! fasciitis + +[Term] +id: DOID:7328 +name: iris spindle cell melanoma +def: "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5] +xref: NCI:C6098 +xref: UMLS_CUI:C1334287 +is_a: DOID:6037 ! spindle cell intraocular melanoma +is_a: DOID:6994 ! malignant iris melanoma + +[Term] +id: DOID:7332 +name: esophageal tuberculosis +def: "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss." [url:http\://www.springerlink.com/content/53763553187824h3/fulltext.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of esophagus" EXACT [] +xref: ICD9CM:017.8 +xref: SNOMEDCT_US_2015_03_01:15284007 +xref: UMLS_CUI:C0152902 +is_a: DOID:404 ! gastrointestinal tuberculosis + +[Term] +id: DOID:7333 +name: nephrogenic adenoma of urinary bladder +synonym: "Nephrogenic adenoma of the urinary bladder" EXACT [NCI2004_11_17:C7415] +xref: NCI:C7415 +xref: UMLS_CUI:C1336892 +is_a: DOID:0050623 ! bladder benign neoplasm + +[Term] +id: DOID:7334 +name: nephrogenic adenoma +xref: NCI:C7413 +xref: NCI:C97097 +xref: SNOMEDCT_US_2015_03_01:78236000 +xref: UMLS_CUI:C0334039 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:7335 +name: extraocular extension of melanoma +is_obsolete: true + +[Term] +id: DOID:734 +name: urethra cancer +alt_id: DOID:737 +def: "An urinary tract cancer that derives_from the tissues of the urethra." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient] +synonym: "cancer of urethra" RELATED [] +synonym: "malignant tumour of urethra" EXACT [SNOMEDCT_2005_07_31:154544009] +synonym: "malignant urethral neoplasm" EXACT [NCI2004_11_17:C7507] +synonym: "urethral Ca" EXACT [SNOMEDCT_2005_07_31:363459007] +xref: ICD10CM:C68.0 +xref: ICD9CM:189.3 +xref: MSH:D014523 +xref: NCI:C7507 +xref: NCI:C9106 +xref: SNOMEDCT_US_2015_03_01:154544009 +xref: SNOMEDCT_US_2015_03_01:363459007 +xref: SNOMEDCT_US_2015_03_01:94123008 +xref: UMLS_CUI:C0153620 +xref: UMLS_CUI:C0700101 +is_a: DOID:3996 ! urinary system cancer + +[Term] +id: DOID:7340 +name: pediatric ovarian dysgerminoma +def: "A dysgerminoma of ovary that occurs in children." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] +xref: NCI:C6550 +xref: UMLS_CUI:C1332988 +is_a: DOID:5511 ! dysgerminoma of ovary +is_a: DOID:6084 ! pediatric ovarian germ cell tumor + +[Term] +id: DOID:7344 +name: anaplastic brainstem astrocytoma +is_obsolete: true + +[Term] +id: DOID:7345 +name: anaplastic glioma of brain stem +synonym: "Undifferentiated glioma of Brainstem" EXACT [NCI2004_11_17:C7446] +is_obsolete: true + +[Term] +id: DOID:7347 +name: ovarian stromal hyperthecosis +xref: NCI:C40446 +xref: UMLS_CUI:C1518743 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:735 +name: metastatic neoplasm of urethra +synonym: "urethra metastatic malignant neoplasm" EXACT [NCI2004_11_17:C27819] +is_obsolete: true + +[Term] +id: DOID:7350 +name: thymic dysplasia +xref: NCI:C27802 +xref: UMLS_CUI:C1331541 +is_a: DOID:533 ! thymus gland disease + +[Term] +id: DOID:7351 +name: localized Askin's tumor +is_obsolete: true + +[Term] +id: DOID:7352 +name: diencephalic anaplastic astrocytoma +synonym: "Undifferentiated astrocytoma of Diencephalon" EXACT [NCI2004_11_17:C5124] +is_obsolete: true + +[Term] +id: DOID:7356 +name: rectum sarcomatoid carcinoma +synonym: "sarcomatoid carcinoma of rectum" EXACT [NCI2004_11_17:C5556] +xref: NCI:C5556 +xref: UMLS_CUI:C1335689 +is_a: DOID:1993 ! rectum cancer + +[Term] +id: DOID:7357 +name: rectal anaplastic carcinoma +synonym: "Undifferentiated carcinoma of rectum" EXACT [NCI2004_11_17:C7974] +is_obsolete: true + +[Term] +id: DOID:7358 +name: recurrent rectal cancer +synonym: "recurrent Rectal carcinoma" EXACT [NCI2004_11_17:C9238] +is_obsolete: true + +[Term] +id: DOID:736 +name: male urethral cancer +xref: NCI:C39867 +xref: UMLS_CUI:C1518164 +is_a: DOID:734 ! urethra cancer + +[Term] +id: DOID:7360 +name: solid pattern testicular yolk sac tumor +xref: NCI:C39925 +xref: UMLS_CUI:C1515312 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:7362 +name: teratoma of CNS with malignant transformation +synonym: "teratoma of the central nervous system with malignant Transformation" EXACT [NCI2004_11_17:C7015] +is_obsolete: true + +[Term] +id: DOID:7363 +name: vulvar keratinizing squamous cell carcinoma +xref: NCI2009_04D:C40284 +is_a: DOID:2101 ! vulva squamous cell carcinoma + +[Term] +id: DOID:7364 +name: organic anxiety disorder +is_obsolete: true + +[Term] +id: DOID:7365 +name: Kimura disease +synonym: "Kimura's disease" EXACT [SNOMEDCT_2005_07_31:254791004] +synonym: "Kimura's disease" EXACT [SNOMEDCT_2005_07_31:69484003] +synonym: "Kimura's disease" EXACT [NCI2004_11_17:C26867] +synonym: "Kimura's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:399894006] +xref: MSH:D000796 +xref: NCI:C26867 +xref: SNOMEDCT_US_2015_03_01:254791004 +xref: SNOMEDCT_US_2015_03_01:399894006 +xref: SNOMEDCT_US_2015_03_01:69484003 +xref: UMLS_CUI:C0033838 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:7371 +name: superficial urinary bladder cancer +def: "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area." [url:http\://www.malecare.com/new_page_91.htm] +synonym: "Superficial urinary bladder carcinoma" EXACT [NCI2004_11_17:C27474] +xref: NCI:C27474 +xref: SNOMEDCT_US_2015_03_01:425231005 +xref: UMLS_CUI:C1336527 +is_a: DOID:4007 ! bladder carcinoma + +[Term] +id: DOID:7378 +name: pituitary hypoplasia +xref: NCI:C27343 +xref: UMLS_CUI:C0948740 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:7379 +name: adrenal medulla carcinoma +def: "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] +xref: NCI:C9276 +xref: UMLS_CUI:C1334717 +is_a: DOID:5719 ! adrenal medulla cancer + +[Term] +id: DOID:738 +name: female urethral cancer +xref: NCI:C39866 +xref: UMLS_CUI:C1517154 +is_a: DOID:734 ! urethra cancer + +[Term] +id: DOID:7380 +name: squamous cell papilloma of skin +synonym: "Parakeratotic skin papilloma" EXACT [NCI2004_11_17:C4462] +synonym: "squamous cell papilloma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254661000] +xref: NCI:C4462 +xref: SNOMEDCT_US_2015_03_01:254661000 +xref: UMLS_CUI:C0345983 +is_a: DOID:3178 ! skin papilloma + +[Term] +id: DOID:7381 +name: lymphohistiocytoid mesothelioma +xref: NCI:C27779 +xref: UMLS_CUI:C1334464 +is_a: DOID:7474 ! malignant pleural mesothelioma + +[Term] +id: DOID:7384 +name: localized resectable adult primary hepatoma +is_obsolete: true + +[Term] +id: DOID:7385 +name: localized resectable adult primary liver cancer +synonym: "localized Resectable adult Liver carcinoma" EXACT [NCI2004_11_17:C7877] +is_obsolete: true + +[Term] +id: DOID:7388 +name: pulmonary vein leiomyosarcoma +synonym: "leiomyosarcoma of the pulmonary Vein" EXACT [NCI2004_11_17:C5374] +xref: NCI:C5374 +xref: UMLS_CUI:C1335575 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:7389 +name: pulmonary artery leiomyosarcoma +synonym: "leiomyosarcoma of the pulmonary artery" EXACT [NCI2004_11_17:C5373] +xref: NCI:C5373 +xref: UMLS_CUI:C1335572 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:739 +name: metastasis to the urethra +synonym: "metastatic neoplasm to the urethra" EXACT [NCI2004_11_17:C7573] +synonym: "secondary malignant neoplasm of urethra (disorder)" EXACT [SNOMEDCT_2005_07_31:94661005] +is_obsolete: true + +[Term] +id: DOID:7390 +name: superior vena cava leiomyosarcoma +synonym: "leiomyosarcoma of the Superior Vena Cava" EXACT [NCI2004_11_17:C6745] +xref: NCI:C6745 +xref: UMLS_CUI:C1336531 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:7391 +name: superior vena cava malignant neoplasm +synonym: "malignant tumor of Superior Vena Cava" EXACT [NCI2004_11_17:C5379] +is_obsolete: true + +[Term] +id: DOID:7398 +name: cerebral primitive neuroectodermal tumor +synonym: "PNET of Cerebrum" EXACT [NCI2004_11_17:C4970] +xref: MSH:D018242 +xref: NCI:C4970 +xref: UMLS_CUI:C0751675 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:74 +name: hematopoietic system disease +def: "An immune system disease that has_material_basis_in hematopoietic cells." [url:http\://en.wikipedia.org/wiki/Hematopathology] +synonym: "Blood disease" EXACT [SNOMEDCT_2005_07_31:154785002] +synonym: "blood disorder" EXACT [CSP2005:0427-3600] +synonym: "Blood dyscrasia NOS" EXACT [MTHICD9_2006:289.9] +synonym: "disease of hematopoietic system" EXACT [] +synonym: "DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS" EXACT [ICD9CM_2006:280-289.99] +synonym: "Hematological disease" EXACT [MTH:NOCODE] +xref: ICD10CM:D75.9 +xref: ICD9CM:280-289.99 +xref: ICD9CM:289.9 +xref: MSH:D006402 +xref: NCI:C26323 +xref: SNOMEDCT_US_2015_03_01:154785002 +xref: SNOMEDCT_US_2015_03_01:154842002 +xref: SNOMEDCT_US_2015_03_01:191124002 +xref: SNOMEDCT_US_2015_03_01:191402006 +xref: SNOMEDCT_US_2015_03_01:191446003 +xref: SNOMEDCT_US_2015_03_01:267552000 +xref: SNOMEDCT_US_2015_03_01:267573000 +xref: SNOMEDCT_US_2015_03_01:34093004 +xref: UMLS_CUI:C0018939 +is_a: DOID:2914 ! immune system disease + +[Term] +id: DOID:7400 +name: Nijmegen breakage syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Berlin breakage syndrome" EXACT [] +synonym: "Microcephaly, normal intelligence and immunodeficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:234638009] +synonym: "Seemanova syndrome" EXACT [CSP2005:5005-0018] +xref: MSH:D049932 +xref: NCI:C4692 +xref: OMIM:251260 +xref: SNOMEDCT_US_2015_03_01:234638009 +xref: UMLS_CUI:C0398791 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:7401 +name: colonic L-cell glucagon-like peptide producing tumor +xref: NCI:C27447 +xref: UMLS_CUI:C3274139 +is_a: DOID:219 ! colon cancer + +[Term] +id: DOID:7402 +name: L-cell glucagon-like peptide producing tumor +xref: NCI:C27448 +xref: UMLS_CUI:C3274140 +is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor + +[Term] +id: DOID:7407 +name: metastatic carcinoma to the uterine cervix +synonym: "secondary carcinoma to the Cervix Uteri" EXACT [NCI2004_11_17:C6334] +is_obsolete: true + +[Term] +id: DOID:7408 +name: vulvar keratoacanthoma-like carcinoma +xref: NCI:C40288 +xref: UMLS_CUI:C1520086 +is_a: DOID:2101 ! vulva squamous cell carcinoma + +[Term] +id: DOID:7409 +name: vulvar non-keratinizing squamous cell carcinoma +xref: NCI:C40285 +xref: UMLS_CUI:C1520092 +is_a: DOID:2101 ! vulva squamous cell carcinoma + +[Term] +id: DOID:7410 +name: vulvar squamous cell carcinoma with tumor giant cells +is_obsolete: true + +[Term] +id: DOID:7411 +name: ovarian endometrioid cystadenofibroma +xref: NCI:C27288 +xref: UMLS_CUI:C1335158 +is_a: DOID:5480 ! ovarian endometrioid adenofibroma + +[Term] +id: DOID:7419 +name: metaplastic meningioma +synonym: "Metaplastic meningioma" EXACT [NCI2004_11_17:C6907] +is_obsolete: true + +[Term] +id: DOID:7420 +name: placental infarction +synonym: "Placental infarct" EXACT [SNOMEDCT_2005_07_31:199621006] +synonym: "Placental infarct" EXACT [SNOMEDCT_2005_07_31:169956001] +synonym: "Placental infarct" EXACT [SNOMEDCT_2005_07_31:199628000] +synonym: "Placental infarct (disorder)" EXACT [SNOMEDCT_2005_07_31:268585006] +synonym: "Placental infarction" EXACT [NCI2004_11_17:C27181] +is_obsolete: true + +[Term] +id: DOID:7423 +name: ovarian mucinous cystic tumor with mural nodules +is_obsolete: true + +[Term] +id: DOID:7426 +name: cutaneous anthrax +def: "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center." [url:http\://emedicine.medscape.com/article/212127-overview#a0104, url:http\://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A22.0 +xref: ICD9CM:022.0 +xref: MSH:C531621 +xref: SNOMEDCT_US_2015_03_01:84980006 +xref: UMLS_CUI:C0003177 +is_a: DOID:7427 ! anthrax disease + +[Term] +id: DOID:7427 +name: anthrax disease +def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." [url:http\://www.bt.cdc.gov/agent/anthrax/needtoknow.asp] +subset: gram-positive_bacterial_infectious_disease +subset: zoonotic_infectious_disease +xref: ICD10CM:A22 +xref: ICD10CM:A22.9 +xref: ICD9CM:022 +xref: ICD9CM:022.9 +xref: MSH:D000881 +xref: NCI:C84565 +xref: SNOMEDCT_US_2015_03_01:154295005 +xref: SNOMEDCT_US_2015_03_01:17540007 +xref: SNOMEDCT_US_2015_03_01:186304006 +xref: SNOMEDCT_US_2015_03_01:187302001 +xref: SNOMEDCT_US_2015_03_01:409498004 +xref: UMLS_CUI:C0003175 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:7428 +name: pineal region germinoma +xref: NCI:C8712 +xref: UMLS_CUI:C0854912 +is_a: DOID:1660 ! malignant pineal area germ cell neoplasm + +[Term] +id: DOID:7429 +name: childhood brain germinoma +synonym: "germinoma of the pediatric brain" EXACT [NCI2004_11_17:C6207] +xref: NCI:C6207 +xref: UMLS_CUI:C1332948 +is_a: DOID:2127 ! brain germinoma + +[Term] +id: DOID:743 +name: dermatographia +def: "An urticaria induced by stroking of the skin." [url:http\://en.wikipedia.org/wiki/Dermatographic_urticaria, url:www.dermnetnz.org/reactions/urticaria.html] +synonym: "dermatographic urticaria" EXACT [ICD9CM_2006:708.3] +synonym: "dermographism" EXACT [SNOMEDCT_2005_07_31:156430003] +xref: ICD10CM:L50.3 +xref: ICD9CM:708.3 +xref: NCI:C111885 +xref: OMIM:125635 +xref: SNOMEDCT_US_2015_03_01:123093003 +xref: SNOMEDCT_US_2015_03_01:156430003 +xref: SNOMEDCT_US_2015_03_01:201263000 +xref: SNOMEDCT_US_2015_03_01:201265007 +xref: SNOMEDCT_US_2015_03_01:238685008 +xref: SNOMEDCT_US_2015_03_01:247473009 +xref: SNOMEDCT_US_2015_03_01:270885004 +xref: SNOMEDCT_US_2015_03_01:402410006 +xref: SNOMEDCT_US_2015_03_01:402601007 +xref: SNOMEDCT_US_2015_03_01:7632005 +xref: UMLS_CUI:C0343065 +is_a: DOID:0060220 ! physical urticaria + +[Term] +id: DOID:7430 +name: childhood germ cell brain tumor +synonym: "germ cell neoplasm of the pediatric brain" EXACT [NCI2004_11_17:C5795] +xref: NCI:C5795 +xref: UMLS_CUI:C1377598 +is_a: DOID:6052 ! central nervous system childhood germ cell tumor + +[Term] +id: DOID:7435 +name: polyvesicular vitelline pattern testicular yolk sac tumor +xref: NCI:C39930 +xref: UMLS_CUI:C1515311 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:7436 +name: sarcomatoid uterine corpus endometrioid adenocarcinoma +xref: NCI:C27850 +xref: UMLS_CUI:C1336913 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:7437 +name: uterus perivascular epithelioid cell tumor +synonym: "uterine corpus PEComa" EXACT [] +xref: NCI:C40180 +xref: UMLS_CUI:C1519862 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:7438 +name: ovarian clear cell cystadenocarcinoma +xref: NCI:C7980 +xref: UMLS_CUI:C0279667 +is_a: DOID:3605 ! ovarian cystadenocarcinoma + +[Term] +id: DOID:7439 +name: polyp of middle ear +synonym: "polyp - middle ear" EXACT [SNOMEDCT_2005_07_31:155244001] +synonym: "polyp - middle ear" EXACT [SNOMEDCT_2005_07_31:267766007] +synonym: "polyp of middle ear (disorder)" EXACT [SNOMEDCT_2005_07_31:73103007] +synonym: "polyp of the middle ear" EXACT [NCI2004_11_17:C6933] +xref: ICD10CM:H74.4 +xref: NCI:C6933 +xref: SNOMEDCT_US_2015_03_01:155244001 +xref: SNOMEDCT_US_2015_03_01:267766007 +xref: SNOMEDCT_US_2015_03_01:73103007 +xref: UMLS_CUI:C0271466 +is_a: DOID:5100 ! middle ear disease + +[Term] +id: DOID:744 +name: Muscle calcification and ossification +is_obsolete: true + +[Term] +id: DOID:7441 +name: chronic metabolic polyneuropathy +xref: NCI:C35602 +xref: UMLS_CUI:C1333042 +is_a: DOID:5221 ! chronic polyneuropathy + +[Term] +id: DOID:7442 +name: monoclonal gammopathy of uncertain significance +synonym: "MGUS" EXACT [NCI2004_11_17:C3996] +synonym: "Monoclonal gammopathy of uncertain significance (disorder)" EXACT [SNOMEDCT_2005_07_31:277577000] +synonym: "Monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35601003] +is_a: DOID:6536 ! plasma cell neoplasm + +[Term] +id: DOID:7444 +name: diffuse intraductal papillomatosis +synonym: "Diffuse intraductal papillomatosis" EXACT [SNOMEDCT_2005_07_31:32296002] +xref: NCI:C7364 +xref: SNOMEDCT_US_2015_03_01:32296002 +xref: UMLS_CUI:C1377912 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:745 +name: epididymis adenomatoid tumor +synonym: "adenomatoid neoplasm of the epididymis" RELATED [] +synonym: "benign Epididymal epithelial Mesothelioma" EXACT [NCI2004_11_17:C6382] +xref: NCI:C6382 +xref: SNOMEDCT_US_2015_03_01:449052009 +xref: UMLS_CUI:C1333415 +is_a: DOID:0060087 ! male reproductive organ benign neoplasm + +[Term] +id: DOID:7455 +name: hypogonadotropism +is_a: DOID:2277 ! gonadal disease + +[Term] +id: DOID:7457 +name: enterobiasis +alt_id: DOID:7458 +def: "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh] +synonym: "Enterobius vermicularis infection" RELATED [] +synonym: "oxyuriasis" RELATED [] +synonym: "Oxyuris vermicularis infection (disorder)" EXACT [SNOMEDCT_2005_07_31:360417007] +synonym: "Pinworm infection" RELATED [] +synonym: "Threadworm infection" EXACT [MTHICD9_2006:127.4] +xref: ICD10CM:B80 +xref: MSH:D010123 +xref: SNOMEDCT_US_2015_03_01:154415009 +xref: SNOMEDCT_US_2015_03_01:187178006 +xref: SNOMEDCT_US_2015_03_01:19722001 +xref: SNOMEDCT_US_2015_03_01:266162007 +xref: SNOMEDCT_US_2015_03_01:266222003 +xref: UMLS_CUI:C0030100 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:7459 +name: acantholytic variant squamous cell breast carcinoma +xref: NCI:C40359 +xref: UMLS_CUI:C1519485 +is_a: DOID:5514 ! breast squamous cell carcinoma + +[Term] +id: DOID:746 +name: adenomatoid tumor +synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:2348006] +synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189835008] +synonym: "benign localized epithelial Mesothelioma" EXACT [NCI2004_11_17:C3762] +xref: ICD10CM:D19.9 +xref: MSH:D018254 +xref: NCI:C3762 +xref: SNOMEDCT_US_2015_03_01:189835008 +xref: SNOMEDCT_US_2015_03_01:2348006 +xref: SNOMEDCT_US_2015_03_01:41183007 +xref: UMLS_CUI:C0206675 +is_a: DOID:2645 ! benign mesothelioma + +[Term] +id: DOID:7460 +name: spindle cell variant squamous cell breast carcinoma +xref: NCI:C40358 +xref: UMLS_CUI:C1519487 +is_a: DOID:5514 ! breast squamous cell carcinoma + +[Term] +id: DOID:7461 +name: large cell keratinizing variant squamous cell breast carcinoma +xref: NCI:C40357 +xref: UMLS_CUI:C1519486 +is_a: DOID:5514 ! breast squamous cell carcinoma + +[Term] +id: DOID:7463 +name: childhood pleomorphic rhabdomyosarcoma +synonym: "childhood anaplastic Rhabdomyosarcoma" EXACT [NCI2004_11_17:C7959] +xref: NCI:C7959 +xref: UMLS_CUI:C0279614 +is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma + +[Term] +id: DOID:7465 +name: chronic NK-cell lymphocytosis +synonym: "NK-cell large granular Lymphocyte Lymphocytosis" EXACT [NCI2004_11_17:C39591] +xref: NCI:C39591 +xref: UMLS_CUI:C1512709 +is_a: DOID:2916 ! hypersensitivity reaction type IV disease + +[Term] +id: DOID:7468 +name: Spitz nevus +synonym: "desmoplastic nevus" EXACT [] +synonym: "desmoplastic nevus of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254813009] +synonym: "Epithelioid and spindle-cell nevus" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7469 +name: balloon cell nevus +synonym: "Balloon cell nevus" EXACT [NCI2004_11_17:C4226] +synonym: "Balloon cell nevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:8276007] +is_obsolete: true + +[Term] +id: DOID:7470 +name: neural nevus +synonym: "neuronevus (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:17930004] +is_obsolete: true + +[Term] +id: DOID:7471 +name: deep penetrating nevus +is_obsolete: true + +[Term] +id: DOID:7472 +name: recurrent nevus +is_obsolete: true + +[Term] +id: DOID:7473 +name: recurrent malignant pleural mesothelioma +synonym: "relapsed malignant Pleural Mesothelioma" EXACT [NCI2004_11_17:C8707] +is_obsolete: true + +[Term] +id: DOID:7474 +name: malignant pleural mesothelioma +def: "A pleural cancer that has_material_basis_in mesothelium cells." [url:http\://en.wikipedia.org/wiki/Mesothelioma] +subset: DO_cancer_slim +synonym: "malignant mesothelioma of pleura" EXACT [SNOMEDCT_2005_07_31:187878009] +xref: ICD10CM:C45.0 +xref: NCI:C7376 +xref: SNOMEDCT_US_2015_03_01:109373004 +xref: SNOMEDCT_US_2015_03_01:187878009 +xref: SNOMEDCT_US_2015_03_01:254645002 +xref: UMLS_CUI:C0812413 +is_a: DOID:5158 ! pleural cancer + +[Term] +id: DOID:7475 +name: diverticulitis +def: "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." [url:https\://en.wikipedia.org/wiki/Diverticulitis] +synonym: "Diverticulitis (disorder)" EXACT [SNOMEDCT_2005_07_31:307496006] +synonym: "Diverticulitis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18126004] +synonym: "Diverticulitis NOS" EXACT [MTHICD9_2006:562.11] +synonym: "Diverticulitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197103004] +synonym: "Diverticulitis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:197102009] +xref: MSH:D004238 +xref: NCI:C26752 +xref: SNOMEDCT_US_2015_03_01:155779000 +xref: SNOMEDCT_US_2015_03_01:18126004 +xref: SNOMEDCT_US_2015_03_01:197095003 +xref: SNOMEDCT_US_2015_03_01:197102009 +xref: SNOMEDCT_US_2015_03_01:197103004 +xref: SNOMEDCT_US_2015_03_01:307496006 +xref: UMLS_CUI:C0012813 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:7479 +name: duodenal somatostatinoma +synonym: "duodenal delta cell somatostatin producing tumor" EXACT [] +xref: NCI:C27407 +xref: UMLS_CUI:C1333320 +is_a: DOID:10021 ! duodenum cancer + +[Term] +id: DOID:7480 +name: large cell carcinoma with rhabdoid phenotype +synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128629005] +synonym: "large cell lung carcinoma with Rhabdoid Phenotype" EXACT [NCI2004_11_17:C6876] +xref: NCI:C6876 +xref: SNOMEDCT_US_2015_03_01:128629005 +xref: UMLS_CUI:C1265997 +is_a: DOID:4556 ! lung large cell carcinoma + +[Term] +id: DOID:7482 +name: petrous apex meningioma +synonym: "meningioma of the Petrous Ridge" EXACT [NCI2004_11_17:C5271] +xref: NCI:C5271 +xref: UMLS_CUI:C1335396 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7483 +name: cervical keratinizing squamous cell carcinoma +xref: NCI:C40187 +xref: UMLS_CUI:C1517658 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:7486 +name: metastatic renal cell carcinoma +synonym: "metastatic renal cell cancer" EXACT [NCI2004_11_17:C27806] +is_obsolete: true + +[Term] +id: DOID:7488 +name: posterior urethra cancer +synonym: "Posterior urethral malignant tumor" EXACT [NCI2004_11_17:C7640] +xref: NCI:C7640 +xref: UMLS_CUI:C0279931 +is_a: DOID:738 ! female urethral cancer + +[Term] +id: DOID:7489 +name: Osgood-Schlatter's disease +def: "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia." [url:http\://emedicine.medscape.com/article/827380-overview, url:http\://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00411, url:http\://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392, url:http\://www.medicinenet.com/osgood-schlatter_disease/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001258.htm] +synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [] +synonym: "Osgood-Schlatter disease" EXACT [] +synonym: "Osteochondritis of tibial tubercle" EXACT [SNOMEDCT_2005_07_31:79353000] +synonym: "Osteochondrosis of proximal tibia" EXACT [MTHICD9_2006:732.4] +xref: MSH:D055034 +xref: NCI:C34874 +xref: SNOMEDCT_US_2015_03_01:156820001 +xref: SNOMEDCT_US_2015_03_01:268124001 +xref: SNOMEDCT_US_2015_03_01:430642003 +xref: SNOMEDCT_US_2015_03_01:72047008 +xref: SNOMEDCT_US_2015_03_01:79353000 +xref: UMLS_CUI:C0029376 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:749 +name: active peptic ulcer disease +synonym: "GI Bleeding" RELATED [] +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:7491 +name: vulvar proximal-type epithelioid sarcoma +xref: NCI:C40319 +xref: UMLS_CUI:C1520093 +is_a: DOID:2096 ! vulvar sarcoma +is_a: DOID:7492 ! central epithelioid sarcoma + +[Term] +id: DOID:7492 +name: central epithelioid sarcoma +xref: NCI:C27472 +xref: UMLS_CUI:C1335563 +is_a: DOID:6193 ! epithelioid sarcoma + +[Term] +id: DOID:7497 +name: brain ependymoma +synonym: "Ependymal tumor of brain" EXACT [NCI2004_11_17:C3861] +synonym: "Ependymoma of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:254939008] +xref: NCI:C3861 +xref: SNOMEDCT_US_2015_03_01:254939008 +xref: UMLS_CUI:C0238029 +is_a: DOID:0060108 ! brain glioma + +[Term] +id: DOID:7498 +name: AIDS-related Human papillomavirus infectious disease +def: "A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS." [url:http\://www.aids.org/topics/human-papillomavirus-hpv/] +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:75 +name: lymphatic system disease +def: "An immune system disease that is located_in the lymphatic system." [url:http\://en.wikipedia.org/wiki/Lymphatic_disease, url:http\://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html] +synonym: "Adenopathy" EXACT [SNOMEDCT_2005_07_31:141342003] +synonym: "Adenopathy" EXACT [SNOMEDCT_2005_07_31:269044004] +synonym: "disease of lympoid system" EXACT [] +synonym: "disorder of lymph node and lymphatics (disorder)" EXACT [SNOMEDCT_2005_07_31:234087005] +synonym: "disorder of lymphatic system" EXACT [SNOMEDCT_2005_07_31:362971004] +synonym: "disorder of lymphoid system" EXACT [SNOMEDCT_2005_07_31:111590001] +synonym: "Lymphangiopathy, NOS" EXACT [SNOMEDCT_2005_07_31:3305006] +synonym: "Lymphatic disease" EXACT [MTH:461] +synonym: "Lymphatic disease" EXACT [SNOMEDCT_2005_07_31:155452000] +synonym: "Lymphatic disease" EXACT [MTH:NOCODE] +synonym: "Lymphatic disease" EXACT [SNOMEDCT_2005_07_31:266326002] +synonym: "Lymphatic disorder" EXACT [NCI2004_11_17:C3206] +synonym: "lymphatic disorder" EXACT [CSP2005:0427-7757] +synonym: "lympoid system disease" EXACT [] +xref: MSH:D008206 +xref: SNOMEDCT_US_2015_03_01:111590001 +xref: SNOMEDCT_US_2015_03_01:155452000 +xref: SNOMEDCT_US_2015_03_01:234087005 +xref: SNOMEDCT_US_2015_03_01:266326002 +xref: SNOMEDCT_US_2015_03_01:3305006 +xref: SNOMEDCT_US_2015_03_01:362971004 +xref: UMLS_CUI:C0024228 +is_a: DOID:2914 ! immune system disease + +[Term] +id: DOID:750 +name: peptic ulcer disease +alt_id: DOID:11466 +alt_id: DOID:12635 +alt_id: DOID:13115 +synonym: "acute peptic ulcer with hemorrhage" EXACT [] +synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [] +synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [] +synonym: "acute peptic ulcer without hemorrhage AND without perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:45485004] +xref: ICD10CM:K27 +xref: ICD9CM:533 +xref: MSH:D010437 +xref: NCI:C3318 +xref: SNOMEDCT_US_2015_03_01:13200003 +xref: SNOMEDCT_US_2015_03_01:155701001 +xref: SNOMEDCT_US_2015_03_01:155710009 +xref: SNOMEDCT_US_2015_03_01:196681007 +xref: SNOMEDCT_US_2015_03_01:196697002 +xref: SNOMEDCT_US_2015_03_01:196704007 +xref: SNOMEDCT_US_2015_03_01:196705008 +xref: SNOMEDCT_US_2015_03_01:266437002 +xref: SNOMEDCT_US_2015_03_01:266501005 +xref: UMLS_CUI:C0030920 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:7501 +name: pediatric infratentorial ependymoma +xref: NCI:C9041 +xref: UMLS_CUI:C0278599 +is_a: DOID:4706 ! infratentorial cancer + +[Term] +id: DOID:7502 +name: pediatric supratentorial ependymoma +synonym: "pediatric Cerebral Ependymoma" EXACT [NCI2004_11_17:C6268] +synonym: "pediatric Supratentorial Ependymoblastoma" EXACT [NCI2004_11_17:C6772] +xref: NCI:C6268 +xref: NCI:C6772 +xref: NCI:C9043 +xref: UMLS_CUI:C0278650 +is_a: DOID:1659 ! supratentorial cancer + +[Term] +id: DOID:7503 +name: extrahepatic bile duct papillary adenoma +synonym: "Papillary adenoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5849] +xref: NCI:C5849 +xref: UMLS_CUI:C1333510 +is_a: DOID:5438 ! extrahepatic bile duct adenoma + +[Term] +id: DOID:7504 +name: mixed embryonal carcinoma and endodermal sinus neoplasm of the testis +synonym: "testicular mixed Embryonal carcinoma and Yolk Sac tumor" EXACT [NCI2004_11_17:C8001] +is_obsolete: true + +[Term] +id: DOID:7505 +name: small intestine neoplasm +synonym: "neoplasm of small intestine (disorder)" EXACT [SNOMEDCT_2005_07_31:126832004] +synonym: "small intestinal neoplasm" EXACT [NCI2004_11_17:C4432] +xref: NCI:C4432 +xref: SNOMEDCT_US_2015_03_01:126832004 +xref: UMLS_CUI:C0345832 +is_a: DOID:4610 ! intestinal benign neoplasm + +[Term] +id: DOID:7506 +name: small intestinal L-cell glucagon-like peptide producing tumor +xref: NCI:C27452 +xref: UMLS_CUI:C3274143 +is_a: DOID:10154 ! small intestine cancer + +[Term] +id: DOID:7507 +name: malformation of placenta +synonym: "Placenta Malformation" EXACT [NCI2004_11_17:C27050] +synonym: "Variation of placenta form" EXACT [SNOMEDCT_2005_07_31:33552005] +is_obsolete: true + +[Term] +id: DOID:7511 +name: breast intraductal papillomatosis +synonym: "Intraductal papillomatosis of the breast" EXACT [NCI2004_11_17:C5201] +xref: NCI:C5201 +xref: UMLS_CUI:C1334247 +is_a: DOID:1634 ! breast papillomatosis + +[Term] +id: DOID:7512 +name: localized Intraductal papillomatosis +xref: NCI:C7365 +xref: UMLS_CUI:C1333626 +is_a: DOID:2615 ! papilloma + +[Term] +id: DOID:7514 +name: Wolffian adnexal neoplasm +xref: MSH:C536741 +xref: NCI:C40141 +xref: UMLS_CUI:C1520159 +is_a: DOID:5727 ! uterine ligament cancer + +[Term] +id: DOID:7515 +name: lumbar spinal canal and spinal cord meningioma +synonym: "meningioma of Lumbar Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5298] +xref: NCI:C5298 +xref: UMLS_CUI:C1334436 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:7516 +name: childhood central nervous system mixed germ cell tumor +xref: NCI:C27403 +xref: UMLS_CUI:C1332956 +is_a: DOID:6052 ! central nervous system childhood germ cell tumor + +[Term] +id: DOID:7517 +name: central nervous system mixed germ cell tumor +synonym: "mixed germ cell tumor of CNS" EXACT [NCI2004_11_17:C7016] +is_obsolete: true + +[Term] +id: DOID:7518 +name: inhibited female orgasm +synonym: "female Orgasmic disorder" EXACT [NCI2004_11_17:C34958] +synonym: "Inhibited female orgasm (disorder)" EXACT [SNOMEDCT_2005_07_31:60103007] +xref: ICD10CM:F52.31 +xref: NCI:C34958 +xref: SNOMEDCT_US_2015_03_01:191794003 +xref: SNOMEDCT_US_2015_03_01:60103007 +xref: UMLS_CUI:C0033948 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:7519 +name: endocervical carcinoma +synonym: "carcinoma of endocervix" EXACT [SNOMEDCT_2005_07_31:372098004] +synonym: "carcinoma of the Endocervix" EXACT [NCI2004_11_17:C28327] +xref: NCI:C28327 +xref: SNOMEDCT_US_2015_03_01:372098004 +xref: UMLS_CUI:C1299237 +is_a: DOID:2893 ! cervix carcinoma + +[Term] +id: DOID:752 +name: peptic ulcer perforation +alt_id: DOID:751 +synonym: "acute peptic ulcer with perforation" EXACT [] +synonym: "Peptic ulcer with perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:88169003] +synonym: "Perforated peptic ulcer" EXACT [SNOMEDCT_2005_07_31:266502003] +synonym: "Perforated peptic ulcer" EXACT [SNOMEDCT_2005_07_31:155703003] +synonym: "Unspecified peptic ulcer with perforation (disorder)" EXACT [SNOMEDCT_2005_07_31:196700003] +xref: MSH:D010439 +xref: SNOMEDCT_US_2015_03_01:155703003 +xref: SNOMEDCT_US_2015_03_01:196700003 +xref: SNOMEDCT_US_2015_03_01:266502003 +xref: SNOMEDCT_US_2015_03_01:88169003 +xref: UMLS_CUI:C0030925 +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:7520 +name: periductal breast myoepitheliosis +xref: NCI:C40388 +xref: UMLS_CUI:C1518974 +is_a: DOID:7521 ! breast myoepitheliosis + +[Term] +id: DOID:7521 +name: breast myoepitheliosis +xref: NCI:C40385 +xref: UMLS_CUI:C1513799 +is_a: DOID:3004 ! breast myoepithelial neoplasm + +[Term] +id: DOID:7522 +name: pediatric infratentorial ependymoblastoma +xref: NCI:C6773 +xref: UMLS_CUI:C1332972 +is_a: DOID:4207 ! childhood infratentorial neoplasm +is_a: DOID:4794 ! ependymoblastoma + +[Term] +id: DOID:7526 +name: metastatic neoplasm to the ciliary body +synonym: "metastatic tumor to the Ciliary body" EXACT [NCI2004_11_17:C8553] +is_obsolete: true + +[Term] +id: DOID:7527 +name: acute gonococcal endometritis +synonym: "acute gonococcal endometritis (disorder)" EXACT [SNOMEDCT_2005_07_31:65295003] +synonym: "acute gonorrhea of uterus" EXACT [MTHICD9_2006:098.16] +synonym: "Gonococcal endometritis (acute)" EXACT [ICD9CM_2006:098.16] +synonym: "Uterus - acute gonorrhoea" EXACT [SNOMEDCT_2005_07_31:186913003] +xref: ICD9CM:098.16 +xref: SNOMEDCT_US_2015_03_01:186913003 +xref: SNOMEDCT_US_2015_03_01:65295003 +xref: UMLS_CUI:C0153196 +is_a: DOID:7528 ! acute endometritis + +[Term] +id: DOID:7528 +name: acute endometritis +xref: NCI:C27022 +xref: SNOMEDCT_US_2015_03_01:155976002 +xref: SNOMEDCT_US_2015_03_01:67667007 +xref: UMLS_CUI:C0238103 +is_a: DOID:1002 ! endometritis + +[Term] +id: DOID:7531 +name: anal gland adenocarcinoma +def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] +synonym: "adenocarcinoma of anal ducts" EXACT [SNOMEDCT_2005_07_31:128655006] +synonym: "adenocarcinoma of anal gland" RELATED [] +synonym: "anal glands adenocarcinoma" EXACT [NCI2004_11_17:C5609] +xref: NCI:C5609 +xref: SNOMEDCT_US_2015_03_01:128655006 +xref: UMLS_CUI:C1266027 +is_a: DOID:3447 ! anus adenocarcinoma + +[Term] +id: DOID:7532 +name: squamous papillomatosis +xref: NCI:C9009 +xref: SNOMEDCT_US_2015_03_01:82049002 +xref: UMLS_CUI:C1378340 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:7533 +name: subareolar duct papillomatosis +synonym: "Subareolar duct papillomatosis" EXACT [SNOMEDCT_2005_07_31:65787003] +synonym: "Subareolar duct papillomatosis" EXACT [NCI2004_11_17:C9008] +xref: NCI:C9008 +is_a: DOID:3003 ! nipple neoplasm + +[Term] +id: DOID:7537 +name: breast cystic hypersecretory carcinoma +synonym: "cystic hypersecretory carcinoma of the breast" RELATED [] +synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [NCI2004_11_17:C6869] +is_a: DOID:4922 ! breast secretory carcinoma + +[Term] +id: DOID:7538 +name: breast ductal adenoma +xref: NCI:C40384 +xref: UMLS_CUI:C1511307 +is_a: DOID:1625 ! breast adenoma + +[Term] +id: DOID:7539 +name: pregnancy adenoma +synonym: "Lactating adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128651002] +xref: NCI:C9473 +xref: SNOMEDCT_US_2015_03_01:128651002 +xref: UMLS_CUI:C1266023 +is_a: DOID:1625 ! breast adenoma + +[Term] +id: DOID:754 +name: bladder tuberculosis +def: "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:32268008] +synonym: "Tuberculosis of bladder, unspecified examination" EXACT [ICD9CM_2006:016.10] +synonym: "Tuberculous cystitis" EXACT [SNOMEDCT_2005_07_31:186237005] +xref: ICD10CM:A18.12 +xref: ICD9CM:016.1 +xref: ICD9CM:016.10 +xref: SNOMEDCT_US_2015_03_01:186237005 +xref: SNOMEDCT_US_2015_03_01:32268008 +xref: UMLS_CUI:C0152793 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:7540 +name: breast apocrine adenoma +xref: NCI:C40383 +xref: UMLS_CUI:C1388299 +is_a: DOID:1625 ! breast adenoma + +[Term] +id: DOID:7541 +name: mixed epithelial/mesenchymal metaplastic breast carcinoma +xref: NCI:C40364 +xref: UMLS_CUI:C1513365 +is_a: DOID:4680 ! breast metaplastic carcinoma + +[Term] +id: DOID:7542 +name: osteosarcoma arising in bone Paget's disease +synonym: "osteosarcoma arising in bone Paget disease" EXACT [] +synonym: "Osteosarcoma Arising in osseous Paget's disease" EXACT [NCI2004_11_17:C6469] +xref: NCI:C6469 +xref: UMLS_CUI:C1335148 +is_a: DOID:3376 ! bone osteosarcoma + +[Term] +id: DOID:7543 +name: recurrent squamous cell carcinoma of the esophagus +synonym: "recurrent squamous cell carcinoma of esophagus" EXACT [NCI2004_11_17:C8633] +is_obsolete: true + +[Term] +id: DOID:7544 +name: recurrent esophagus cancer +synonym: "relapsed carcinoma of the esophagus" EXACT [NCI2004_11_17:C3999] +is_obsolete: true + +[Term] +id: DOID:7549 +name: ceruminoma +synonym: "Ceruminous adenoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403945001] +synonym: "Ceruminous adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:52707009] +xref: SNOMEDCT_US_2015_03_01:403945001 +xref: SNOMEDCT_US_2015_03_01:52707009 +xref: UMLS_CUI:C0334352 +is_a: DOID:5876 ! apocrine sweat gland neoplasm + +[Term] +id: DOID:7551 +name: gonorrhea +alt_id: DOID:10409 +alt_id: DOID:13557 +def: "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." [url:http\://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [] +synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [] +xref: ICD10CM:A54 +xref: ICD10CM:A54.9 +xref: ICD9CM:098 +xref: ICD9CM:098.2 +xref: ICD9CM:098.32 +xref: MSH:D006069 +xref: NCI:C35730 +xref: NCI:C92950 +xref: SNOMEDCT_US_2015_03_01:154387008 +xref: SNOMEDCT_US_2015_03_01:15628003 +xref: SNOMEDCT_US_2015_03_01:186943001 +xref: SNOMEDCT_US_2015_03_01:187361005 +xref: SNOMEDCT_US_2015_03_01:266142004 +xref: SNOMEDCT_US_2015_03_01:60893000 +xref: UMLS_CUI:C0018081 +xref: UMLS_CUI:C0153199 +xref: UMLS_CUI:C0153203 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:7553 +name: infiltrating bladder urothelial carcinoma sarcomatoid variant +alt_id: DOID:7552 +alt_id: DOID:7800 +synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements" EXACT [] +synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements" EXACT [] +xref: NCI:C39824 +xref: UMLS_CUI:C1512743 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7554 +name: Paget's disease and intraductal carcinoma of breast +synonym: "Paget's disease and intraductal carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:189714001] +synonym: "Paget's disease and intraductal carcinoma of breast (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:54666007] +synonym: "Paget's disease of the breast with Intraductal carcinoma" EXACT [NCI2004_11_17:C4019] +is_obsolete: true + +[Term] +id: DOID:7555 +name: HIV leukoencephalopathy +def: "A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration." [url:http\://emedicine.medscape.com/article/1167145-overview, url:http\://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy] +subset: zoonotic_infectious_disease +synonym: "Human immunodefiency virus leukoencephalopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:230180003] +is_obsolete: true + +[Term] +id: DOID:7558 +name: glossopharyngeal motor neuropathy +xref: MSH:D020435 +xref: NCI:C27212 +xref: UMLS_CUI:C0751942 +is_a: DOID:683 ! motor neuritis + +[Term] +id: DOID:7559 +name: asymmetric motor neuropathy +xref: NCI:C27953 +xref: UMLS_CUI:C1332341 +is_a: DOID:683 ! motor neuritis + +[Term] +id: DOID:7565 +name: vulvar eccrine porocarcinoma +xref: NCI:C40306 +xref: UMLS_CUI:C1520081 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:7566 +name: eccrine porocarcinoma +synonym: "Eccrine porocarcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254708001] +synonym: "malignant Eccrine Poroma" EXACT [NCI2004_11_17:C5560] +synonym: "Porocarcinoma" EXACT [SNOMEDCT_2005_07_31:128685001] +xref: MSH:D057090 +xref: NCI:C5560 +xref: SNOMEDCT_US_2015_03_01:128685001 +xref: SNOMEDCT_US_2015_03_01:254708001 +xref: UMLS_CUI:C1266065 +is_a: DOID:4921 ! eccrine sweat gland cancer + +[Term] +id: DOID:7567 +name: vulvar clear cell hidradenocarcinoma +xref: NCI:C40307 +xref: UMLS_CUI:C1520076 +is_a: DOID:1294 ! vulva carcinoma + +[Term] +id: DOID:7568 +name: adult brain meningioma +is_obsolete: true + +[Term] +id: DOID:757 +name: thyrotoxicosis with toxic single thyroid nodule +is_obsolete: true + +[Term] +id: DOID:7571 +name: malignant cystic nephroma +synonym: "malignant cystic Nephroma" EXACT [NCI2004_11_17:C7505] +synonym: "malignant Multilocular cystic Nephroma" EXACT [NCI2004_11_17:C6898] +synonym: "malignant multilocular cystic nephroma" EXACT [SNOMEDCT_2005_07_31:128759009] +is_a: DOID:263 ! kidney cancer + +[Term] +id: DOID:7574 +name: pancreatic intraductal papillary-colloid carcinoma +synonym: "Intraductal Papillary-mucinous carcinoma of pancreas" EXACT [NCI2004_11_17:C5725] +xref: NCI:C5725 +xref: UMLS_CUI:C1335304 +is_a: DOID:4074 ! pancreas adenocarcinoma +is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm + +[Term] +id: DOID:7575 +name: pancreatic intraductal papillary-mucinous neoplasm +xref: NCI:C38342 +xref: UMLS_CUI:C1518869 +is_a: DOID:1795 ! tumor of exocrine pancreas + +[Term] +id: DOID:7576 +name: metastatic pancreatic adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:7577 +name: pancreatic foamy gland adenocarcinoma +xref: NCI:C37256 +xref: UMLS_CUI:C1335303 +is_a: DOID:4074 ! pancreas adenocarcinoma + +[Term] +id: DOID:7578 +name: breast scirrhous carcinoma +synonym: "Infiltrating carcinoma of breast with Fibrotic Stroma" EXACT [NCI2004_11_17:C7362] +synonym: "scirrhous carcinoma of breast" RELATED [] +synonym: "Scirrhous carcinoma of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:254839007] +xref: NCI:C7362 +xref: SNOMEDCT_US_2015_03_01:254839007 +xref: UMLS_CUI:C0346151 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:758 +name: situs inversus +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Complete transposition (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:27317008] +synonym: "Laterality sequence (disorder)" EXACT [SNOMEDCT_2005_07_31:24614000] +synonym: "situs inversus viscerum (disorder)" EXACT [SNOMEDCT_2005_07_31:43876007] +xref: ICD10CM:Q89.3 +xref: ICD9CM:759.3 +xref: MSH:D012857 +xref: NCI:C87121 +xref: OMIM:270100 +xref: SNOMEDCT_US_2015_03_01:157025003 +xref: SNOMEDCT_US_2015_03_01:157033002 +xref: SNOMEDCT_US_2015_03_01:205765000 +xref: SNOMEDCT_US_2015_03_01:205770007 +xref: SNOMEDCT_US_2015_03_01:254257004 +xref: SNOMEDCT_US_2015_03_01:268359006 +xref: SNOMEDCT_US_2015_03_01:27317008 +xref: SNOMEDCT_US_2015_03_01:43876007 +xref: UMLS_CUI:C0037221 +is_a: DOID:0050545 ! visceral heterotaxy + +[Term] +id: DOID:7581 +name: psychogenic depressive psychosis +synonym: "Depressive type psychosis" EXACT [ICD9CM_2006:298.0] +synonym: "psychotic depression" EXACT [CSP2005:2483-6684] +synonym: "psychotic depression" EXACT [CSP2005:2484-8182] +synonym: "Severe major depression with psychotic features (disorder)" EXACT [SNOMEDCT_2005_07_31:73867007] +is_obsolete: true + +[Term] +id: DOID:7583 +name: glottis verrucous carcinoma +synonym: "Glottic verrucous carcinoma" EXACT [NCI2004_11_17:C8189] +synonym: "verrucous carcinoma of glottis" RELATED [] +xref: NCI:C8189 +xref: UMLS_CUI:C0280329 +is_a: DOID:7031 ! glottis squamous cell carcinoma + +[Term] +id: DOID:7584 +name: subglottis verrucous carcinoma +synonym: "verrucous carcinoma of Subglottis" EXACT [NCI2004_11_17:C8190] +synonym: "verrucous carcinoma of the subglottis" RELATED [] +xref: NCI:C8190 +xref: UMLS_CUI:C0280330 +is_a: DOID:7585 ! subglottis squamous cell carcinoma + +[Term] +id: DOID:7585 +name: subglottis squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Subglottis" EXACT [NCI2004_11_17:C8187] +xref: NCI:C8187 +xref: UMLS_CUI:C0280326 +is_a: DOID:7764 ! subglottis carcinoma + +[Term] +id: DOID:7586 +name: supraglottis verrucous carcinoma +synonym: "verrucous carcinoma of Supraglottis" EXACT [NCI2004_11_17:C8191] +synonym: "verrucous carcinoma of the supraglottis" RELATED [] +xref: NCI:C8191 +xref: UMLS_CUI:C0280331 +is_a: DOID:7587 ! supraglottis squamous cell carcinoma + +[Term] +id: DOID:7587 +name: supraglottis squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Supraglottis" EXACT [NCI2004_11_17:C4945] +xref: NCI:C4945 +xref: UMLS_CUI:C0749163 +is_a: DOID:7763 ! carcinoma of supraglottis + +[Term] +id: DOID:7588 +name: mixed endodermal sinus neoplasm and teratoma of the testis +synonym: "mixed Yolk Sac tumor and teratoma of testis" EXACT [NCI2004_11_17:C8002] +is_obsolete: true + +[Term] +id: DOID:7589 +name: ovarian dermoid cyst with melanocytic nevus +is_obsolete: true + +[Term] +id: DOID:759 +name: congenital disorder +synonym: "congenital abnormality" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7590 +name: ovarian dermoid cyst with secondary melanocytic lesion +is_obsolete: true + +[Term] +id: DOID:7591 +name: gestational ovarian choriocarcinoma +xref: NCI:C40442 +xref: UMLS_CUI:C1517538 +is_a: DOID:5550 ! choriocarcinoma of ovary + +[Term] +id: DOID:7593 +name: recurrent pediatric medulloblastoma +synonym: "relapsed pediatric Medulloblastoma" EXACT [NCI2004_11_17:C6774] +is_obsolete: true + +[Term] +id: DOID:7596 +name: asbestos-related lung carcinoma +xref: NCI:C27925 +xref: UMLS_CUI:C1332337 +is_a: DOID:3905 ! lung carcinoma + +[Term] +id: DOID:7598 +name: cervical lymphoepithelioma-like carcinoma +xref: NCI:C40193 +xref: UMLS_CUI:C1516418 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:7599 +name: lymphoepithelioma-like thymic carcinoma +synonym: "Lymphoepithelioma-like carcinoma of the Thymus" EXACT [NCI2004_11_17:C7998] +xref: NCI:C7998 +xref: UMLS_CUI:C0279706 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:76 +name: stomach disease +def: "A gastrointestinal system disease that is located_in the stomach." [url:http\://en.wikipedia.org/wiki/Stomach_disease] +synonym: "gastric disease" RELATED [SNOMEDCT_2005_07_31:155671005] +synonym: "Gastropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:183927002] +synonym: "stomach disorder" EXACT [NCI2004_11_17:C26886] +xref: MSH:D013272 +xref: NCI:C26886 +xref: SNOMEDCT_US_2015_03_01:155671005 +xref: SNOMEDCT_US_2015_03_01:183927002 +xref: SNOMEDCT_US_2015_03_01:196598004 +xref: SNOMEDCT_US_2015_03_01:266497000 +xref: SNOMEDCT_US_2015_03_01:29384001 +xref: UMLS_CUI:C0038354 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:7600 +name: infiltrating bladder lymphoepithelioma-like carcinoma +xref: NCI:C39821 +xref: UMLS_CUI:C1512736 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7601 +name: advanced malignant pleural mesothelioma +synonym: "Advanced malignant Mesothelioma of Pleura" EXACT [NCI2004_11_17:C8706] +is_obsolete: true + +[Term] +id: DOID:7602 +name: intracortical osteogenic sarcoma +synonym: "Intracortical osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128774006] +xref: NCI:C35870 +xref: SNOMEDCT_US_2015_03_01:128770002 +xref: SNOMEDCT_US_2015_03_01:128774006 +xref: UMLS_CUI:C1266166 +is_a: DOID:3378 ! conventional central osteosarcoma + +[Term] +id: DOID:7603 +name: fibrosarcomatous osteosarcoma +synonym: "Fibroblastic osteosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12690005] +synonym: "Fibrosarcomatous Osteogenic sarcoma" EXACT [NCI2004_11_17:C4020] +xref: NCI:C4020 +xref: SNOMEDCT_US_2015_03_01:12690005 +xref: UMLS_CUI:C0279602 +is_a: DOID:3378 ! conventional central osteosarcoma + +[Term] +id: DOID:7607 +name: chief cell adenoma +synonym: "Chief cell adenoma of Parathyroid gland" EXACT [NCI2004_11_17:C4154] +xref: NCI:C4154 +xref: SNOMEDCT_US_2015_03_01:12205003 +xref: UMLS_CUI:C0334320 +is_a: DOID:7608 ! parathyroid adenoma + +[Term] +id: DOID:7608 +name: parathyroid adenoma +synonym: "adenoma of parathyroid" RELATED [] +synonym: "adenoma of the Parathyroid gland" EXACT [NCI2004_11_17:C3916] +xref: MSH:D010282 +xref: NCI:C3916 +xref: SNOMEDCT_US_2015_03_01:128474007 +xref: UMLS_CUI:C0262587 +is_a: DOID:0060089 ! endocrine organ benign neoplasm + +[Term] +id: DOID:7609 +name: parathyroid transitional clear cell adenoma +synonym: "Clear cell adenoma of the Parathyroid" EXACT [NCI2004_11_17:C7993] +xref: NCI:C7993 +xref: UMLS_CUI:C0279700 +is_a: DOID:7608 ! parathyroid adenoma + +[Term] +id: DOID:761 +name: meningococcal endocarditis +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:34845009] +is_obsolete: true + +[Term] +id: DOID:7610 +name: mixed cell type adenoma of parathyroid +synonym: "mixed cell type adenoma of the Parathyroid gland" EXACT [NCI2004_11_17:C7994] +xref: NCI:C7994 +xref: UMLS_CUI:C0279701 +is_a: DOID:7608 ! parathyroid adenoma + +[Term] +id: DOID:7611 +name: parathyroid oncocytic adenoma +xref: NCI:C27393 +xref: UMLS_CUI:C1335351 +is_a: DOID:7608 ! parathyroid adenoma + +[Term] +id: DOID:7612 +name: childhood intracortical osteosarcoma +xref: NCI:C6590 +xref: UMLS_CUI:C1332974 +is_a: DOID:7602 ! intracortical osteogenic sarcoma + +[Term] +id: DOID:7613 +name: sarcomatosis of the meninges +synonym: "Meningeal sarcomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:14494009] +synonym: "sarcomatosis of meninges" EXACT [NCI2004_11_17:C4334] +xref: NCI:C4334 +xref: SNOMEDCT_US_2015_03_01:14494009 +xref: UMLS_CUI:C0334612 +is_a: DOID:7614 ! meninges sarcoma + +[Term] +id: DOID:7614 +name: meninges sarcoma +synonym: "Meningeal sarcoma" EXACT [SNOMEDCT_2005_07_31:277996009] +synonym: "Meningeal sarcoma" EXACT [SNOMEDCT_2005_07_31:78303004] +synonym: "sarcoma of meninges" EXACT [NCI2004_11_17:C4073] +xref: NCI:C4073 +xref: SNOMEDCT_US_2015_03_01:277996009 +xref: SNOMEDCT_US_2015_03_01:78303004 +xref: UMLS_CUI:C0302327 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7615 +name: sarcomatosis +def: "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body." [url:http\://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss=] +synonym: "sarcomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:9395006] +synonym: "sarcomatosis NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189765009] +xref: NCI:C4243 +xref: SNOMEDCT_US_2015_03_01:189765009 +xref: SNOMEDCT_US_2015_03_01:9395006 +xref: UMLS_CUI:C0334451 +is_a: DOID:1115 ! sarcoma + +[Term] +id: DOID:762 +name: bacterial endocarditis +alt_id: DOID:14105 +synonym: "acute and subacute bacterial endocarditis" EXACT [] +synonym: "acute and subacute bacterial endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:266237004] +synonym: "acute and subacute bacterial endocarditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194925001] +synonym: "Bacterial endocarditis" EXACT [SNOMEDCT_2005_07_31:194922003] +synonym: "bacterial endocarditis" EXACT [CSP2005:1393-3487] +synonym: "Bacterial endocarditis (& [acute] or [subacute])" EXACT [SNOMEDCT_2005_07_31:194922003] +synonym: "Bacterial endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:301183007] +synonym: "Bacterial endocarditis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:50194006] +synonym: "Endocarditis, infective NOS" EXACT [MTHICD9_2006:421.0] +is_obsolete: true + +[Term] +id: DOID:763 +name: meningococcal carditis +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal carditis (disorder)" EXACT [SNOMEDCT_2005_07_31:33618002] +synonym: "Meningococcal carditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186371004] +synonym: "Meningococcal carditis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:186367002] +synonym: "Meningococcal carditis, unspecified" EXACT [ICD9CM_2006:036.40] +is_obsolete: true + +[Term] +id: DOID:7631 +name: adult ependymoblastoma +xref: NCI:C8290 +xref: UMLS_CUI:C0281330 +is_a: DOID:4794 ! ependymoblastoma + +[Term] +id: DOID:7632 +name: cowper gland carcinoma +def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland." [url:http\://en.wikipedia.org/wiki/Cowper_gland] +xref: NCI:C39864 +xref: UMLS_CUI:C1516284 +is_a: DOID:3856 ! male reproductive organ cancer + +[Term] +id: DOID:7633 +name: macular holes +synonym: "Macular Hole" EXACT [NCI2004_11_17:C34795] +synonym: "Macular hole" EXACT [SNOMEDCT_2005_07_31:193388002] +synonym: "Macular hole (disorder)" EXACT [SNOMEDCT_2005_07_31:232006002] +xref: MSH:D012167 +xref: NCI:C34795 +xref: SNOMEDCT_US_2015_03_01:193388002 +xref: SNOMEDCT_US_2015_03_01:232006002 +xref: UMLS_CUI:C0024441 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:7634 +name: suprasellar meningioma +xref: NCI:C6776 +xref: UMLS_CUI:C1336535 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7635 +name: gasserian ganglion meningioma +synonym: "meningioma of Gasserian Ganglion" EXACT [NCI2004_11_17:C6779] +xref: NCI:C6779 +xref: UMLS_CUI:C1333760 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:7636 +name: recurrent cancer of small Intestine +synonym: "relapsed carcinoma of the small Intestine" EXACT [NCI2004_11_17:C7894] +is_obsolete: true + +[Term] +id: DOID:7638 +name: Paget's disease and invasive ductal carcinoma of breast +synonym: "Paget's disease of breast with Infiltrating ductal carcinoma" EXACT [NCI2004_11_17:C7951] +is_obsolete: true + +[Term] +id: DOID:7639 +name: malignant granular cell skin tumor +synonym: "malignant granular cell skin neoplasm" EXACT [] +synonym: "malignant granular cell tumor of skin" EXACT [NCI2004_11_17:C5614] +xref: NCI:C5614 +xref: UMLS_CUI:C1334575 +is_a: DOID:5274 ! malignant dermis tumor + +[Term] +id: DOID:764 +name: meningococcal pericarditis +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal pericarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:66704002] +is_obsolete: true + +[Term] +id: DOID:7641 +name: non-resectable small intestine carcinoma +synonym: "Unresectable Small Intestine carcinoma" EXACT [NCI2004_11_17:C8638] +is_obsolete: true + +[Term] +id: DOID:7642 +name: cholangiolocellular carcinoma +xref: NCI:C41617 +xref: UMLS_CUI:C1516490 +is_a: DOID:4928 ! intrahepatic cholangiocarcinoma + +[Term] +id: DOID:7643 +name: acantholytic squamous cell skin carcinoma +synonym: "acantholytic squamous cell carcinoma of skin " RELATED [] +synonym: "Acantholytic squamous cell carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254654004] +synonym: "Acantholytic squamous cell skin carcinoma" EXACT [NCI2004_11_17:C4460] +xref: NCI:C4460 +xref: SNOMEDCT_US_2015_03_01:254654004 +xref: UMLS_CUI:C0345979 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:7646 +name: multiple spinal canal and spinal cord meningioma +synonym: "Multiple meningiomas of the Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5275] +xref: NCI:C5275 +xref: UMLS_CUI:C1334825 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:7650 +name: pulmonary type ovarian small cell carcinoma +xref: NCI:C40440 +xref: UMLS_CUI:C1518737 +is_a: DOID:6179 ! ovarian small cell carcinoma + +[Term] +id: DOID:7651 +name: hypercalcemic type ovarian small cell carcinoma +xref: NCI:C40439 +xref: UMLS_CUI:C1518736 +is_a: DOID:6179 ! ovarian small cell carcinoma + +[Term] +id: DOID:7652 +name: rare cancer-associated syndrome +is_obsolete: true + +[Term] +id: DOID:7656 +name: adult infiltrating astrocytic neoplasm +synonym: "adult Infiltrating Astrocytic tumor" EXACT [NCI2004_11_17:C8289] +synonym: "adult Infiltrating astrocytoma" EXACT [MTH:NOCODE] +xref: NCI:C8289 +xref: UMLS_CUI:C0281329 +is_a: DOID:3076 ! adult astrocytic tumour + +[Term] +id: DOID:7657 +name: anaplastic astrocytoma of adult +synonym: "Undifferentiated astrocytoma of adult" EXACT [NCI2004_11_17:C8257] +is_obsolete: true + +[Term] +id: DOID:7664 +name: endometrial mixed adenocarcinoma +xref: NCI:C40153 +xref: UMLS_CUI:C1516856 +is_a: DOID:2870 ! endometrial adenocarcinoma + +[Term] +id: DOID:7665 +name: non-gestational ovarian choriocarcinoma +xref: NCI:C39991 +xref: UMLS_CUI:C1518355 +is_a: DOID:5351 ! ovarian primitive germ cell tumor +is_a: DOID:5550 ! choriocarcinoma of ovary + +[Term] +id: DOID:767 +name: muscular atrophy +synonym: "Amyotrophia NOS" EXACT [MTHICD9_2006:728.2] +synonym: "Amyotrophia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:203036002] +synonym: "Muscle atrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:88092000] +synonym: "Muscle wasting" EXACT [SNOMEDCT_2005_07_31:249827008] +synonym: "Muscular atrophy" EXACT [SNOMEDCT_2005_07_31:267693003] +synonym: "Muscular atrophy" EXACT [SNOMEDCT_2005_07_31:155014006] +synonym: "Wasting - muscle" EXACT [SNOMEDCT_2005_07_31:156721007] +synonym: "Wasting - muscle" EXACT [SNOMEDCT_2005_07_31:268104000] +xref: MSH:D009133 +xref: NCI:C94834 +xref: SNOMEDCT_US_2015_03_01:155014006 +xref: SNOMEDCT_US_2015_03_01:156721007 +xref: SNOMEDCT_US_2015_03_01:203036002 +xref: SNOMEDCT_US_2015_03_01:249827008 +xref: SNOMEDCT_US_2015_03_01:267693003 +xref: SNOMEDCT_US_2015_03_01:268104000 +xref: SNOMEDCT_US_2015_03_01:88092000 +xref: UMLS_CUI:C0026846 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:7671 +name: recurrent penis cancer +synonym: "relapsed carcinoma of penis" EXACT [NCI2004_11_17:C7870] +is_obsolete: true + +[Term] +id: DOID:7672 +name: regressing non-cutaneous melanoma +is_obsolete: true + +[Term] +id: DOID:7675 +name: testicular fibroma +xref: NCI:C39951 +xref: UMLS_CUI:C1515282 +is_a: DOID:4757 ! sex cord-stromal neoplasm + +[Term] +id: DOID:7676 +name: testicular thecoma +xref: NCI:C39952 +xref: UMLS_CUI:C1515299 +is_a: DOID:4757 ! sex cord-stromal neoplasm + +[Term] +id: DOID:7677 +name: bone metastatic Ewing's sarcoma +synonym: "metastatic Skeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C6621] +is_obsolete: true + +[Term] +id: DOID:7678 +name: sphenoid sinus inverted papilloma +synonym: "Inverted papilloma of the Sphenoid sinus" EXACT [NCI2004_11_17:C6841] +xref: NCI:C6841 +xref: UMLS_CUI:C1336037 +is_a: DOID:6947 ! sphenoidal sinus neoplasm + +[Term] +id: DOID:7679 +name: sphenoid sinus Schneiderian papilloma +synonym: "Schneiderian papilloma of the Sphenoid sinus" EXACT [NCI2004_11_17:C6838] +xref: NCI:C6838 +xref: UMLS_CUI:C1336038 +is_a: DOID:6947 ! sphenoidal sinus neoplasm + +[Term] +id: DOID:768 +name: retinoblastoma +def: "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina." [url:http\://www.cancer.gov/cancertopics/types/retinoblastoma] +comment: OMIM mapping confirmed by DO. [LS]. +subset: DO_cancer_slim +synonym: "neuroblastoma of Retina" EXACT [NCI2004_11_17:C6956] +synonym: "RB" EXACT [NCI2004_11_17:C7541] +synonym: "RB - Retinoblastoma" EXACT [SNOMEDCT_2005_07_31:134191003] +xref: MSH:D012175 +xref: NCI:C6956 +xref: NCI:C7541 +xref: OMIM:180200 +xref: SNOMEDCT_US_2015_03_01:134191003 +xref: SNOMEDCT_US_2015_03_01:154553002 +xref: SNOMEDCT_US_2015_03_01:189934006 +xref: SNOMEDCT_US_2015_03_01:189935007 +xref: SNOMEDCT_US_2015_03_01:19906005 +xref: SNOMEDCT_US_2015_03_01:269614001 +xref: SNOMEDCT_US_2015_03_01:370967009 +xref: UMLS_CUI:C0035335 +is_a: DOID:771 ! retinal cell cancer + +[Term] +id: DOID:7681 +name: mixed choriocarcinoma and teratoma of the testis +synonym: "mixed Choriocarcinoma and teratoma of testis" EXACT [NCI2004_11_17:C6349] +is_obsolete: true + +[Term] +id: DOID:7683 +name: dissecting aortic aneurysm +is_obsolete: true + +[Term] +id: DOID:7684 +name: maxillary sinus adenocarcinoma +synonym: "adenocarcinoma of maxillary sinus" RELATED [] +synonym: "adenocarcinoma of the maxillary sinus" EXACT [NCI2004_11_17:C6240] +xref: NCI:C6240 +xref: UMLS_CUI:C1334642 +is_a: DOID:1357 ! maxillary sinus cancer + +[Term] +id: DOID:7685 +name: pancreatic non-invasive intraductal papillary-mucinous carcinoma +xref: NCI:C41251 +xref: UMLS_CUI:C1518873 +is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma + +[Term] +id: DOID:7689 +name: leptomeninges sarcoma +synonym: "Leptomeningeal sarcoma" EXACT [SNOMEDCT_2005_07_31:78303004] +synonym: "sarcoma of Leptomeninges" EXACT [NCI2004_11_17:C8312] +xref: NCI:C8312 +xref: SNOMEDCT_US_2015_03_01:78303004 +xref: UMLS_CUI:C1384416 +is_a: DOID:6086 ! malignant leptomeningeal tumor + +[Term] +id: DOID:769 +name: neuroblastoma +def: "An autonomic nervous system neoplasm that derives_from immature nerve cells." [url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "neuroblastoma (Schwannian Stroma-Poor)" EXACT [NCI2004_11_17:C3270] +xref: EFO:0000621 +xref: MSH:D009447 +xref: NCI:C3270 +xref: OMIM:256700 +xref: OMIM:610317 +xref: OMIM:613013 +xref: OMIM:613014 +xref: OMIM:613015 +xref: OMIM:613016 +xref: ORDO:635 +xref: SNOMEDCT_US_2015_03_01:189931003 +xref: SNOMEDCT_US_2015_03_01:269507008 +xref: SNOMEDCT_US_2015_03_01:432328008 +xref: SNOMEDCT_US_2015_03_01:87364003 +xref: UMLS_CUI:C0027819 +is_a: DOID:2621 ! autonomic nervous system neoplasm + +[Term] +id: DOID:7693 +name: abdominal aortic aneurysm +def: "An aortic aneurysm that is located_in the abdominal aorta." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] +synonym: "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1" EXACT [] +xref: EFO:0004214 +xref: MSH:D017544 +xref: NCI:C27000 +xref: OMIM:100070 +xref: OMIM:609782 +xref: OMIM:611891 +xref: OMIM:614375 +xref: SNOMEDCT_US_2015_03_01:155422008 +xref: SNOMEDCT_US_2015_03_01:233985008 +xref: UMLS_CUI:C0162871 +is_a: DOID:3627 ! aortic aneurysm + +[Term] +id: DOID:7694 +name: bladder urachal adenocarcinoma +xref: NCI:C39843 +xref: UMLS_CUI:C1511204 +is_a: DOID:5958 ! bladder urachal carcinoma + +[Term] +id: DOID:7696 +name: lung hilum cancer +synonym: "malignant tumor of lung Hilum" EXACT [NCI2004_11_17:C4566] +synonym: "primary malignant neoplasm of hilus of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:93827000] +xref: SNOMEDCT_US_2015_03_01:93827000 +xref: UMLS_CUI:C0346601 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:7697 +name: pancreatic ACTH hormone producing tumor +synonym: "pancreatic Adrenocorticotropic Hormone Producing tumor" EXACT [NCI2004_11_17:C27466] +xref: NCI:C27466 +xref: UMLS_CUI:C1335300 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:7698 +name: non-functioning pancreatic endocrine tumor +xref: MSH:C536126 +xref: NCI:C45837 +xref: UMLS_CUI:C1334977 +is_a: DOID:1799 ! islet cell tumor + +[Term] +id: DOID:77 +name: gastrointestinal system disease +alt_id: DOID:27 +alt_id: DOID:944 +def: "A disease of anatomical entity that is located_in the gastrointestinal tract." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] +synonym: "alimentary system disease" EXACT [] +synonym: "digestive system disorder" EXACT [] +synonym: "Gastroenteropathy" EXACT [SNOMEDCT_2005_07_31:25374005] +synonym: "gastrointestinal disease" EXACT [] +synonym: "gastrointestinal disorder" EXACT [CSP2005:1248-3545] +synonym: "GIT disease" EXACT [SNOMEDCT_2005_07_31:53619000] +xref: ICD10CM:K92.9 +xref: ICD9CM:520-579.99 +xref: MSH:D004066 +xref: SNOMEDCT_US_2015_03_01:155629009 +xref: SNOMEDCT_US_2015_03_01:155847001 +xref: SNOMEDCT_US_2015_03_01:197575000 +xref: SNOMEDCT_US_2015_03_01:266483008 +xref: SNOMEDCT_US_2015_03_01:53619000 +xref: UMLS_CUI:C0012242 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:7702 +name: AIDS-related oropharyngeal candidiasis +def: "An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients." [url:http\://en.wikipedia.org/wiki/Candidiasis] +is_obsolete: true + +[Term] +id: DOID:7704 +name: human papilloma virus related endocervical adenocarcinoma +def: "A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers." [url:http\://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html, url:http\://www.ncbi.nlm.nih.gov/pubmed/18813124] +synonym: "HPV-Related Endocervical adenocarcinoma" EXACT [NCI2004_11_17:C27677] +is_obsolete: true + +[Term] +id: DOID:7706 +name: Cytomegalovirus esophagitis +def: "A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis." [url:http\://emedicine.medscape.com/article/173272-overview] +synonym: "CMV esophagitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7707 +name: rectum signet ring adenocarcinoma +synonym: "Signet Ring cell adenocarcinoma of rectum" EXACT [NCI2004_11_17:C9168] +xref: NCI:C9168 +xref: UMLS_CUI:C0279654 +is_a: DOID:1996 ! rectum adenocarcinoma + +[Term] +id: DOID:7708 +name: perianal skin Paget's disease +synonym: "perianal skin Paget disease" EXACT [] +xref: NCI:C7476 +xref: UMLS_CUI:C1332270 +is_a: DOID:4284 ! anal margin carcinoma + +[Term] +id: DOID:771 +name: retinal cell cancer +def: "A malignant neoplasm that derives_from the retina." [url:http\://www.wrongdiagnosis.com/medical/retinal_cancer.htm] +subset: DO_cancer_slim +xref: NCI:C7061 +xref: UMLS_CUI:C1335765 +is_a: DOID:4645 ! retinal cancer + +[Term] +id: DOID:7710 +name: metastatic extraskeletal chondrosarcoma +synonym: "metastatic extraosseous chondrosarcoma" EXACT [NCI2004_11_17:C8804] +is_obsolete: true + +[Term] +id: DOID:7712 +name: recurrent adult soft tissue sarcoma +def: "An adult sarcoma of soft tissue that derives_form the soft tissues of the body." [URL:http\://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient] +synonym: "relapsed adult sarcoma of the soft tissue" EXACT [NCI2004_11_17:C7822] +is_obsolete: true + +[Term] +id: DOID:7713 +name: tuberculum sellae meningioma +synonym: "meningioma of the Tuberculum Sellae" EXACT [NCI2004_11_17:C5284] +xref: NCI:C5284 +xref: UMLS_CUI:C1336829 +is_a: DOID:3643 ! sella turcica neoplasm + +[Term] +id: DOID:7714 +name: metastatic malignant hemangiopericytoma +is_obsolete: true + +[Term] +id: DOID:7716 +name: mixed ductal-endocrine carcinoma +xref: NCI:C6879 +xref: SNOMEDCT_US_2015_03_01:396892009 +xref: SNOMEDCT_US_2015_03_01:999000 +xref: UMLS_CUI:C1301048 +is_a: DOID:3498 ! pancreatic ductal adenocarcinoma + +[Term] +id: DOID:7717 +name: colloid carcinoma of the pancreas +xref: NCI:C37214 +xref: UMLS_CUI:C1333081 +is_a: DOID:3498 ! pancreatic ductal adenocarcinoma + +[Term] +id: DOID:7718 +name: osteoclast-like giant cell neoplasm of the pancreas +synonym: "Osteoclast-like Giant cell neoplasm of pancreas" EXACT [NCI2004_11_17:C5723] +is_a: DOID:3498 ! pancreatic ductal adenocarcinoma + +[Term] +id: DOID:772 +name: metastasis to the retina +synonym: "metastatic tumor to the Retina" EXACT [NCI2004_11_17:C8555] +is_obsolete: true + +[Term] +id: DOID:7724 +name: generalized convulsive epilepsy +alt_id: DOID:13426 +synonym: "Generalized convulsive epilepsy, with intractable epilepsy" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7725 +name: epilepsy with generalized tonic-clonic seizures +def: "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org] +synonym: "Epileptic seizures, tonic-clonic" EXACT [MTHICD9_2006:345.1] +synonym: "Grand Mal epilepsy" EXACT [NCI2004_11_17:C3022] +synonym: "tonic-clonic epilepsy" EXACT [] +synonym: "Tonic-clonic epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:352818000] +xref: MSH:D004830 +xref: NCI:C3022 +xref: SNOMEDCT_US_2015_03_01:352818000 +xref: UMLS_CUI:C0014549 +is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome + +[Term] +id: DOID:7728 +name: chronic allograft arteriopathy +is_obsolete: true + +[Term] +id: DOID:7729 +name: acinar cell cystadenocarcinoma +synonym: "acinar cell cystadenocarcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128703004] +synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [NCI2004_11_17:C5727] +xref: NCI:C3874 +xref: NCI:C5727 +xref: SNOMEDCT_US_2015_03_01:128703004 +xref: UMLS_CUI:C1266087 +is_a: DOID:4073 ! pancreatic cystadenocarcinoma + +[Term] +id: DOID:773 +name: metastasis to eye +synonym: "metastatic tumor to the eye" EXACT [NCI2004_11_17:C4586] +synonym: "secondary malignant neoplasm of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:94292003] +is_obsolete: true + +[Term] +id: DOID:7731 +name: childhood malignant hemangiopericytoma +synonym: "malignant pediatric hemangiopericytoma" EXACT [NCI2004_11_17:C8090] +xref: NCI:C8090 +xref: UMLS_CUI:C0279983 +is_a: DOID:264 ! hemangiopericytoma + +[Term] +id: DOID:7732 +name: childhood malignant schwannoma +synonym: "pediatric MPNST" EXACT [NCI2004_11_17:C8094] +xref: NCI:C8094 +xref: UMLS_CUI:C0279987 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:7733 +name: signet ring cell intrahepatic cholangiocarcinoma +xref: NCI:C41619 +xref: UMLS_CUI:C1519321 +is_a: DOID:4928 ! intrahepatic cholangiocarcinoma + +[Term] +id: DOID:7735 +name: pancreatic colloid cystadenoma +synonym: "mucinous Cystadenoma of pancreas" EXACT [NCI2004_11_17:C5718] +xref: NCI:C5718 +xref: UMLS_CUI:C1335309 +is_a: DOID:3918 ! pancreatic cystadenoma + +[Term] +id: DOID:7736 +name: retinal telangiectasia +synonym: "Retinal telangiectasia (disorder)" EXACT [SNOMEDCT_2005_07_31:84884003] +xref: ICD9CM:362.15 +xref: SNOMEDCT_US_2015_03_01:84884003 +xref: UMLS_CUI:C0154835 +is_a: DOID:2462 ! retinal vascular disease + +[Term] +id: DOID:7739 +name: human papilloma virus related penile squamous cell carcinoma +alt_id: DOID:7740 +def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis." [url:http\://jco.ascopubs.org/content/25/29/4550.full.pdf+html] +synonym: "Condylomatous carcinoma of penis" EXACT [NCI2004_11_17:C6981] +synonym: "HPV-Related Penile squamous cell carcinoma" EXACT [NCI2004_11_17:C27682] +synonym: "penis warty carcinoma" EXACT [] +synonym: "warty carcinoma of penis" RELATED [] +is_obsolete: true + +[Term] +id: DOID:774 +name: retina lymphoma +synonym: "Lymphoma of retina (disorder)" EXACT [SNOMEDCT_2005_07_31:232075002] +synonym: "Retinal Lymphoma" EXACT [NCI2004_11_17:C4365] +xref: NCI:C4365 +xref: SNOMEDCT_US_2015_03_01:232075002 +xref: UMLS_CUI:C0339556 +is_a: DOID:4645 ! retinal cancer + +[Term] +id: DOID:7747 +name: pediatric extraocular retinoblastoma +def: "An extraocular retinoblastoma that effects children." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] +synonym: "childhood Extraocular Retinoblastoma" EXACT [NCI2004_11_17:C9048] +xref: NCI:C9048 +xref: UMLS_CUI:C1321870 +is_a: DOID:4656 ! extraocular retinoblastoma + +[Term] +id: DOID:775 +name: intraocular lymphoma +alt_id: DOID:7746 +synonym: "primary intraocular lymphoma" EXACT [] +xref: MSH:D064090 +xref: NCI:C9184 +xref: UMLS_CUI:C0281658 +is_a: DOID:6903 ! eye lymphoma + +[Term] +id: DOID:7750 +name: adult brain ependymoma +xref: NCI:C9372 +xref: UMLS_CUI:C1332186 +is_a: DOID:7497 ! brain ependymoma + +[Term] +id: DOID:7752 +name: extrahepatic biliary papillomatosis +xref: NCI:C7124 +xref: UMLS_CUI:C1333511 +is_a: DOID:5468 ! biliary papillomatosis + +[Term] +id: DOID:7753 +name: recurrent cancer of testis +synonym: "relapsed testicular carcinoma" EXACT [NCI2004_11_17:C9369] +is_obsolete: true + +[Term] +id: DOID:7754 +name: Chondroid hamartoma of lung +synonym: "pulmonary Chondroid hamartoma" EXACT [NCI2004_11_17:C5659] +is_obsolete: true + +[Term] +id: DOID:7756 +name: neonatal leukemia +synonym: "Neonatal Leukemia" EXACT [NCI2004_11_17:C3845] +xref: NCI:C3845 +xref: UMLS_CUI:C0235813 +is_a: DOID:7757 ! childhood leukemia + +[Term] +id: DOID:7757 +name: childhood leukemia +def: "A leukemia that occurs in children." [url:http\://www.nlm.nih.gov/medlineplus/leukemiachildhood.html] +xref: NCI:C4989 +xref: UMLS_CUI:C1332977 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:7762 +name: childhood multilocular cystic kidney neoplasm +def: "A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN)." [url:http\://radiographics.rsna.org/content/15/3/653.abstract] +synonym: "benign Multilocular cystic renal tumor" RELATED [] +synonym: "pediatric Multilocular cystic renal tumor" EXACT [NCI2004_11_17:C6566] +xref: NCI:C6566 +xref: UMLS_CUI:C1332983 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:7763 +name: carcinoma of supraglottis +synonym: "carcinoma of supraglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:372105009] +synonym: "Supraglottic carcinoma" EXACT [NCI2004_11_17:C5973] +xref: NCI:C5973 +xref: SNOMEDCT_US_2015_03_01:372105009 +xref: UMLS_CUI:C1299240 +is_a: DOID:13476 ! supraglottis cancer + +[Term] +id: DOID:7764 +name: subglottis carcinoma +synonym: "carcinoma of subglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:372104008] +synonym: "Subglottic carcinoma" EXACT [NCI2004_11_17:C5972] +xref: NCI:C5972 +xref: SNOMEDCT_US_2015_03_01:372104008 +xref: UMLS_CUI:C1299239 +is_a: DOID:11472 ! subglottis cancer + +[Term] +id: DOID:7765 +name: Coats disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Coats' disease (disorder)" EXACT [SNOMEDCT_2005_07_31:360455002] +synonym: "Coats' disease [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193360008] +synonym: "Coats' syndrome" EXACT [] +synonym: "Exudative retinopathy" EXACT [SNOMEDCT_2005_07_31:193359003] +synonym: "Exudative retinopathy" EXACT [ICD9CM_2006:362.12] +synonym: "Exudative retinopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:25506007] +xref: ICD10CM:H35.02 +xref: ICD10CM:H35.07 +xref: ICD9CM:362.12 +xref: MSH:D058456 +xref: OMIM:300216 +xref: SNOMEDCT_US_2015_03_01:193359003 +xref: SNOMEDCT_US_2015_03_01:193360008 +xref: SNOMEDCT_US_2015_03_01:25506007 +xref: SNOMEDCT_US_2015_03_01:360455002 +xref: UMLS_CUI:C0154832 +is_a: DOID:7736 ! retinal telangiectasia + +[Term] +id: DOID:778 +name: delusional disorder +def: "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect." [url:http\://en.wikipedia.org/wiki/Delusional_disorder] +xref: ICD10CM:F22 +xref: ICD9CM:297.1 +xref: MSH:D012563 +xref: NCI:C94379 +xref: SNOMEDCT_US_2015_03_01:192330005 +xref: SNOMEDCT_US_2015_03_01:48500005 +xref: UMLS_CUI:C0011251 +is_a: DOID:2468 ! psychotic disorder + +[Term] +id: DOID:7786 +name: mixed choriocarcinoma and embryonal carcinoma of the testis +synonym: "mixed Choriocarcinoma and Embryonal carcinoma of testis" EXACT [NCI2004_11_17:C6348] +is_obsolete: true + +[Term] +id: DOID:7787 +name: breast osteosarcoma +synonym: "Osteogenic sarcoma of breast" EXACT [NCI2004_11_17:C5189] +xref: NCI:C5189 +xref: UMLS_CUI:C1335149 +is_a: DOID:3017 ! breast sarcoma + +[Term] +id: DOID:7788 +name: adult spinal cord ependymoma +xref: NCI:C27399 +xref: UMLS_CUI:C1332215 +is_a: DOID:5503 ! spinal cord ependymoma + +[Term] +id: DOID:7793 +name: recurrent uterine sarcoma +def: "A uterine Corpus sarcoma that has recurred after it has been treated." [url:http\://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx, url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] +synonym: "relapsed sarcoma of Uterus" EXACT [NCI2004_11_17:C8261] +is_obsolete: true + +[Term] +id: DOID:7799 +name: transitional cell carcinoma of the ureter with glandular differentiation +synonym: "ureteral transitional cell carcinoma with glandular differentiation" EXACT [NCI2004_11_17:C6157] +is_obsolete: true + +[Term] +id: DOID:780 +name: placenta disease +alt_id: DOID:1815 +alt_id: DOID:5366 +alt_id: DOID:9219 +def: "A uterine disease that is located_in the placenta." [url:http\://en.wikipedia.org/wiki/Placenta_disease] +xref: ICD10CM:O43 +xref: ICD10CM:O43.9 +xref: ICD10CM:O43.90 +xref: ICD9CM:646.9 +xref: MSH:D010922 +xref: MSH:D011248 +xref: NCI:C26857 +xref: NCI:C27619 +xref: NCI:C34941 +xref: NCI:C35169 +xref: SNOMEDCT_US_2015_03_01:125586008 +xref: SNOMEDCT_US_2015_03_01:156069003 +xref: SNOMEDCT_US_2015_03_01:156097009 +xref: SNOMEDCT_US_2015_03_01:156123001 +xref: SNOMEDCT_US_2015_03_01:156131006 +xref: SNOMEDCT_US_2015_03_01:172422001 +xref: SNOMEDCT_US_2015_03_01:173300003 +xref: SNOMEDCT_US_2015_03_01:198881004 +xref: SNOMEDCT_US_2015_03_01:199152008 +xref: SNOMEDCT_US_2015_03_01:23288008 +xref: SNOMEDCT_US_2015_03_01:267293009 +xref: SNOMEDCT_US_2015_03_01:267311008 +xref: SNOMEDCT_US_2015_03_01:267314000 +xref: SNOMEDCT_US_2015_03_01:90821003 +xref: UMLS_CUI:C0032045 +xref: UMLS_CUI:C0032962 +xref: UMLS_CUI:C0151864 +xref: UMLS_CUI:C1335423 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:7801 +name: plasmacytoma-like PTLD +is_obsolete: true + +[Term] +id: DOID:7805 +name: nonmetastatic extraskeletal osteosarcoma +synonym: "Non-metastatic extraskeletal Osteogenic sarcoma" EXACT [NCI2004_11_17:C8809] +is_obsolete: true + +[Term] +id: DOID:7806 +name: adult spinal cord glioblastoma multiforme +synonym: "adult Spinal Cord Glioblastoma" EXACT [NCI2004_11_17:C27183] +synonym: "Glioblastoma multiforme of spinal cord (disorder)" EXACT [SNOMEDCT_2005_07_31:276829003] +xref: NCI:C27183 +xref: SNOMEDCT_US_2015_03_01:276829003 +xref: UMLS_CUI:C0559185 +is_a: DOID:3185 ! spinal cord glioma + +[Term] +id: DOID:7807 +name: choroid necrotic melanoma +synonym: "necrotic Choroid melanoma" EXACT [NCI2004_11_17:C6865] +xref: NCI:C6865 +xref: UMLS_CUI:C1333026 +is_a: DOID:6438 ! malignant choroid melanoma +is_a: DOID:7808 ! necrotic uveal melanoma + +[Term] +id: DOID:7808 +name: necrotic uveal melanoma +xref: NCI:C7990 +xref: UMLS_CUI:C1334931 +is_a: DOID:6039 ! uveal melanoma + +[Term] +id: DOID:7809 +name: anaplastic giant cell thyroid carcinoma +synonym: "Undifferentiated Giant cell carcinoma of the Thyroid gland" EXACT [NCI2004_11_17:C7906] +is_obsolete: true + +[Term] +id: DOID:7810 +name: AIDS-related Cytomegalovirus enterocolitis +def: "An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients." [url:http\://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false] +synonym: "AIDS-related enterocolitis" RELATED [] +is_obsolete: true + +[Term] +id: DOID:7812 +name: Enterovirus gastroenteritis +alt_id: DOID:7854 +def: "An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea." [url:http\://www.ncbi.nlm.nih.gov/pubmed/17033423, url:http\://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf] +is_obsolete: true + +[Term] +id: DOID:7814 +name: Cytomegalovirus colitis +def: "A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss." [url:http\://emedicine.medscape.com/article/173151-overview, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000667.htm] +synonym: "CMV colitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7815 +name: recurrent malignant thymoma +synonym: "Thymoma malignant recurrent" EXACT [NCI2004_11_17:C7905] +is_obsolete: true + +[Term] +id: DOID:7817 +name: mixed astrocytoma-ependymoma-oligodendroglioma +xref: NCI:C8272 +xref: UMLS_CUI:C0280792 +is_a: DOID:5076 ! mixed glioma + +[Term] +id: DOID:7818 +name: petroclival meningioma +xref: NCI:C5278 +xref: UMLS_CUI:C1335395 +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:7819 +name: sphenoorbital meningioma +xref: NCI:C5285 +xref: UMLS_CUI:C1336040 +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:782 +name: renal infectious disease +xref: ICD10CM:N15.9 +xref: ICD9CM:590 +xref: ICD9CM:590.9 +xref: SNOMEDCT_US_2015_03_01:129128006 +xref: SNOMEDCT_US_2015_03_01:155865002 +xref: SNOMEDCT_US_2015_03_01:197785002 +xref: SNOMEDCT_US_2015_03_01:266618004 +xref: UMLS_CUI:C0021313 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:7820 +name: sphenocavernous meningioma +xref: NCI:C5313 +xref: UMLS_CUI:C1336036 +is_a: DOID:4437 ! skull base meningioma + +[Term] +id: DOID:7824 +name: spinal multifocal clear cell meningioma +synonym: "Multifocal Clear cell meningioma of Spine" EXACT [NCI2004_11_17:C5287] +xref: NCI:C5287 +xref: UMLS_CUI:C1336051 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:7825 +name: chronic toxic polyneuropathy +xref: NCI:C35603 +xref: UMLS_CUI:C1333048 +is_a: DOID:5221 ! chronic polyneuropathy + +[Term] +id: DOID:7826 +name: adult papillary meningioma +xref: NCI:C8293 +xref: UMLS_CUI:C0281334 +is_a: DOID:5058 ! rhabdoid meningioma + +[Term] +id: DOID:7827 +name: adult extraosseous osteosarcoma +def: "An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material." [url:http\://jco.ascopubs.org/cgi/content/full/20/2/521] +xref: NCI:C7925 +xref: UMLS_CUI:C0278985 +is_a: DOID:184 ! bone cancer + +[Term] +id: DOID:783 +name: end stage renal failure +synonym: "End stage renal disease" EXACT [ICD9CM_2006:585.6] +synonym: "End stage renal disease" EXACT [NCI2004_11_17:C9439] +synonym: "end stage renal disease" EXACT [CSP2005:1682-2922] +synonym: "End stage renal disease (disorder)" EXACT [SNOMEDCT_2005_07_31:46177005] +is_a: DOID:784 ! chronic kidney failure + +[Term] +id: DOID:7833 +name: cervical papillary squamous cell carcinoma +def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13678741] +is_obsolete: true + +[Term] +id: DOID:7834 +name: human papilloma virus related cervical squamous cell carcinoma +alt_id: DOID:6371 +def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix." [url:http\://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html] +synonym: "HPV-Related cervical carcinoma" EXACT [NCI2004_11_17:C27675] +synonym: "HPV-Related cervical squamous cell carcinoma" EXACT [NCI2004_11_17:C27676] +synonym: "human papilloma virus related cervical carcinoma" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7836 +name: mixed acinar-endocrine carcinoma +synonym: "mixed acinar-endocrine carcinoma" EXACT [SNOMEDCT_2005_07_31:999000] +synonym: "mixed acinar-endocrine carcinoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:396891002] +is_obsolete: true + +[Term] +id: DOID:7839 +name: infiltrating nipple syringomatous adenoma +xref: NCI:C40363 +xref: UMLS_CUI:C1518329 +is_a: DOID:3003 ! nipple neoplasm + +[Term] +id: DOID:784 +name: chronic kidney failure +synonym: "chronic renal disease" EXACT [NCI2004_11_17:C9438] +synonym: "chronic renal disease" EXACT [MTHICD9_2006:585.9] +synonym: "chronic renal failure syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:90688005] +synonym: "CRF" EXACT [CSP2005:1682-2922] +synonym: "renal failure - chronic" EXACT [SNOMEDCT_2005_07_31:155856009] +synonym: "renal failure - chronic" EXACT [SNOMEDCT_2005_07_31:197654000] +xref: EFO:0003884 +xref: ICD10CM:N18.9 +xref: ICD9CM:585.6 +xref: MSH:D007676 +xref: NCI:C9438 +xref: SNOMEDCT_US_2015_03_01:155856009 +xref: SNOMEDCT_US_2015_03_01:197654000 +xref: SNOMEDCT_US_2015_03_01:197655004 +xref: SNOMEDCT_US_2015_03_01:197755007 +xref: SNOMEDCT_US_2015_03_01:46177005 +xref: SNOMEDCT_US_2015_03_01:90688005 +xref: UMLS_CUI:C0022661 +is_a: DOID:1074 ! kidney failure + +[Term] +id: DOID:7840 +name: pancreatic non-functioning delta cell tumor +xref: NCI:C28333 +xref: UMLS_CUI:C1335311 +is_a: DOID:4433 ! pancreatic delta cell neoplasm +is_a: DOID:7698 ! non-functioning pancreatic endocrine tumor + +[Term] +id: DOID:7841 +name: pediatric cerebral ependymoblastoma +xref: NCI:C6957 +xref: UMLS_CUI:C1332962 +is_a: DOID:4794 ! ependymoblastoma + +[Term] +id: DOID:7843 +name: female breast carcinoma +def: "A breast carcinoma that is manifested in the female breast." [url:http\://en.wikipedia.org/wiki/Breast_cancer] +synonym: "carcinoma of female breast" RELATED [] +synonym: "Mammary carcinoma of female breast" EXACT [NCI2004_11_17:C2918] +xref: NCI:C2918 +xref: UMLS_CUI:C0007104 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:7847 +name: vascular hemorrhagic disorder +is_obsolete: true + +[Term] +id: DOID:7848 +name: interdigitating dendritic cell sarcoma +def: "A histiocytic and dendritic cell cancer that effect dendritic cells." [url:http\://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma] +synonym: "Interdigitating cell sarcoma" EXACT [NCI2004_11_17:C9282] +synonym: "Interdigitating cell sarcoma" EXACT [SNOMEDCT_2005_07_31:128815007] +xref: ICD10CM:C96.4 +xref: MSH:D054739 +xref: NCI:C9282 +xref: SNOMEDCT_US_2015_03_01:128815007 +xref: UMLS_CUI:C1260326 +is_a: DOID:5621 ! histiocytic and dendritic cell cancer + +[Term] +id: DOID:7849 +name: dendritic cell sarcoma +def: "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes." [url:http\://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/] +synonym: "Dendritic cell sarcoma" EXACT [SNOMEDCT_2005_07_31:128815007] +synonym: "Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397355008] +synonym: "follicular dendritic cell sarcoma" RELATED [] +xref: NCI:C27260 +xref: SNOMEDCT_US_2015_03_01:128815007 +xref: SNOMEDCT_US_2015_03_01:397355008 +xref: UMLS_CUI:C1301364 +is_a: DOID:5621 ! histiocytic and dendritic cell cancer + +[Term] +id: DOID:7850 +name: recurrent uvea melanoma +synonym: "recurrent melanoma of Uvea" EXACT [NCI2004_11_17:C7914] +is_obsolete: true + +[Term] +id: DOID:7851 +name: pancreatic intraductal papillary-mucinous adenoma +xref: NCI:C41249 +xref: SNOMEDCT_US_2015_03_01:473418001 +xref: UMLS_CUI:C1518868 +is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm + +[Term] +id: DOID:7855 +name: recurrent ovarian germ cell neoplasm +synonym: "relapsed germ cell tumor of Ovary" EXACT [NCI2004_11_17:C8087] +is_obsolete: true + +[Term] +id: DOID:786 +name: laryngeal disease +xref: ICD10CM:J38.7 +xref: ICD10CM:S12.8 +xref: ICD9CM:478.70 +xref: MSH:D007818 +xref: NCI:C26810 +xref: SNOMEDCT_US_2015_03_01:195863001 +xref: SNOMEDCT_US_2015_03_01:60600009 +xref: UMLS_CUI:C0023051 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:7867 +name: adult central nervous system germinoma +synonym: "germinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5792] +xref: NCI:C5792 +xref: UMLS_CUI:C1370504 +is_a: DOID:4438 ! central nervous system germinoma + +[Term] +id: DOID:7868 +name: maxillary sinus inverted papilloma +synonym: "Inverted papilloma of the maxillary sinus" EXACT [NCI2004_11_17:C6840] +xref: NCI:C6840 +xref: UMLS_CUI:C1334645 +is_a: DOID:1358 ! maxillary sinus neoplasm + +[Term] +id: DOID:7875 +name: adult xanthogranuloma +xref: NCI:C27514 +xref: UMLS_CUI:C1332220 +is_a: DOID:4330 ! non-langerhans-cell histiocytosis + +[Term] +id: DOID:7878 +name: uterine corpus atypical polypoid adenomyoma +xref: NCI:C40235 +xref: UMLS_CUI:C1519844 +is_a: DOID:4994 ! adenomyoma of uterine corpus + +[Term] +id: DOID:7880 +name: luteoma +synonym: "leuteoma of pregnancy" EXACT [] +synonym: "luteoma of pregnancy" EXACT [] +xref: NCI:C40445 +xref: UMLS_CUI:C1517842 +is_a: DOID:1100 ! ovarian disease + +[Term] +id: DOID:789 +name: hypotony of eye associated with another ocular disorder +is_obsolete: true + +[Term] +id: DOID:7890 +name: testicular spermatocytic seminoma with sarcoma +is_obsolete: true + +[Term] +id: DOID:7891 +name: testicular spermatocytic seminoma +is_a: DOID:5834 ! spermatocytoma +is_a: DOID:5842 ! testis seminoma + +[Term] +id: DOID:7892 +name: breast adenohibernoma +is_obsolete: true + +[Term] +id: DOID:7894 +name: mite infestation +def: "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae." [url:http\://en.wikipedia.org/wiki/Mite] +xref: ICD10CM:B88.0 +xref: ICD10CM:B88.9 +xref: ICD9CM:133 +xref: ICD9CM:133.9 +xref: MSH:D008924 +xref: SNOMEDCT_US_2015_03_01:154422001 +xref: SNOMEDCT_US_2015_03_01:187214007 +xref: SNOMEDCT_US_2015_03_01:187217000 +xref: SNOMEDCT_US_2015_03_01:240885009 +xref: SNOMEDCT_US_2015_03_01:266224002 +xref: SNOMEDCT_US_2015_03_01:78166003 +xref: UMLS_CUI:C0026229 +is_a: DOID:4110 ! parasitic ectoparasitic infectious disease + +[Term] +id: DOID:790 +name: ocular hypotension +synonym: "Decreased intraocular pressure (finding)" EXACT [SNOMEDCT_2005_07_31:23670006] +synonym: "Hypotony of eye" EXACT [ICD9CM_2006:360.3] +synonym: "Hypotony of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:19721008] +synonym: "Hypotony of eye NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193283009] +synonym: "Hypotony of eye unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:193280007] +synonym: "Hypotony of eye, unspecified" EXACT [ICD9CM_2006:360.30] +xref: ICD10CM:H44.4 +xref: ICD10CM:H44.40 +xref: ICD9CM:360.3 +xref: ICD9CM:360.30 +xref: MSH:D015814 +xref: SNOMEDCT_US_2015_03_01:193280007 +xref: SNOMEDCT_US_2015_03_01:193283009 +xref: SNOMEDCT_US_2015_03_01:19721008 +xref: SNOMEDCT_US_2015_03_01:23670006 +xref: UMLS_CUI:C0028841 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:7902 +name: adult extraosseous chondrosarcoma +is_a: DOID:4549 ! extraosseous chondrosarcoma + +[Term] +id: DOID:7903 +name: intracranial chondrosarcoma +xref: NCI:C5462 +xref: UMLS_CUI:C1334238 +is_a: DOID:4549 ! extraosseous chondrosarcoma + +[Term] +id: DOID:7907 +name: mixed astrocytoma-ependymoma +xref: NCI:C8271 +xref: UMLS_CUI:C0280791 +is_a: DOID:5076 ! mixed glioma + +[Term] +id: DOID:791 +name: disorganized schizophrenia in remission +synonym: "Disorganized schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:31373002] +synonym: "Disorganized type schizophrenia, in remission" EXACT [ICD9CM_2006:295.15] +is_obsolete: true + +[Term] +id: DOID:7910 +name: maxillary sinus squamous cell carcinoma +synonym: "Epidermoid carcinoma of the Maxillofacial sinus" EXACT [NCI2004_11_17:C6064] +xref: NCI:C6064 +xref: UMLS_CUI:C1334647 +is_a: DOID:1357 ! maxillary sinus cancer + +[Term] +id: DOID:7912 +name: mixed oligodendroglioma-astrocytoma +synonym: "WHO grade II mixed glioma" EXACT [NCI2004_11_17:C4050] +xref: MSH:D009837 +xref: NCI:C4050 +xref: SNOMEDCT_US_2015_03_01:22217002 +xref: UMLS_CUI:C0280793 +is_a: DOID:5076 ! mixed glioma + +[Term] +id: DOID:7915 +name: cervical spinal canal and spinal cord meningioma +synonym: "meningioma of the cervical Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5296] +xref: NCI:C5296 +xref: UMLS_CUI:C1332916 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:7919 +name: nonmetastatic extra-osseous ewing's sarcoma +synonym: "Non-metastatic extraskeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C8802] +is_obsolete: true + +[Term] +id: DOID:792 +name: disorganized schizophrenia +is_obsolete: true + +[Term] +id: DOID:7920 +name: central nervous system benign soft tissue neoplasm +synonym: "benign soft tissue tumor of CNS" EXACT [NCI2004_11_17:C6757] +is_obsolete: true + +[Term] +id: DOID:7921 +name: benign mediastinal psammomatous neurilemmoma +synonym: "benign Psammomatous Schwannoma of mediastinum" EXACT [NCI2004_11_17:C6636] +xref: NCI:C6636 +xref: UMLS_CUI:C1332513 +is_a: DOID:7922 ! benign mediastinal neurilemmoma + +[Term] +id: DOID:7922 +name: benign mediastinal neurilemmoma +synonym: "benign Schwannoma of mediastinum" EXACT [NCI2004_11_17:C6625] +xref: NCI:C6625 +is_a: DOID:955 ! benign neurilemmoma + +[Term] +id: DOID:7926 +name: epithelial malignant thymoma +synonym: "Squamoid Thymoma" EXACT [NCI2004_11_17:C7997] +synonym: "Thymoma, epithelial" EXACT [SNOMEDCT_2005_07_31:128715000] +synonym: "Well differentiated thymic carcinoma" EXACT [SNOMEDCT_2005_07_31:128716004] +xref: NCI:C7997 +xref: SNOMEDCT_US_2015_03_01:128715000 +xref: SNOMEDCT_US_2015_03_01:128716004 +xref: UMLS_CUI:C0279705 +is_a: DOID:3282 ! dendritic cell thymoma + +[Term] +id: DOID:7927 +name: malignant type A thymoma +synonym: "Thymoma, medullary, malignant" EXACT [SNOMEDCT_2005_07_31:128708008] +xref: NCI:C7999 +xref: SNOMEDCT_US_2015_03_01:128708008 +xref: UMLS_CUI:C0279707 +is_a: DOID:3279 ! spindle cell thymoma + +[Term] +id: DOID:7928 +name: testis refractory cancer +synonym: "Refractory testicular carcinoma" EXACT [NCI2004_11_17:C9077] +xref: NCI:C9077 +xref: UMLS_CUI:C1377904 +is_a: DOID:5556 ! testicular malignant germ cell cancer + +[Term] +id: DOID:793 +name: schizophrenia in remission +synonym: "Schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:4926007] +synonym: "Unspecified schizophrenia, in remission" EXACT [ICD9CM_2006:295.95] +is_obsolete: true + +[Term] +id: DOID:7930 +name: glandular-alveolar pattern testicular yolk sac tumor +xref: NCI:C39926 +xref: UMLS_CUI:C1515305 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:7931 +name: old burn scar-related squamous cell carcinoma of skin +synonym: "Old Burn Scar-Related squamous cell carcinoma of the skin" EXACT [NCI2004_11_17:C27918] +is_obsolete: true + +[Term] +id: DOID:7933 +name: childhood precursor T-lymphoblastic lymphoma/leukemia +xref: NCI:C5640 +xref: UMLS_CUI:C1332997 +is_a: DOID:5599 ! precursor T-lymphoblastic lymphoma/leukemia + +[Term] +id: DOID:7936 +name: precursor T-lymphoblastic lymphoma/leukemia refractory +xref: NCI:C8696 +xref: UMLS_CUI:C0854859 +is_a: DOID:5599 ! precursor T-lymphoblastic lymphoma/leukemia +is_a: DOID:712 ! refractory hematologic cancer + +[Term] +id: DOID:7938 +name: dyschondroplasia +synonym: "Dyschondroplasia" EXACT [NCI2004_11_17:C34556] +synonym: "Dyschondroplasia" EXACT [MTHICD9_2006:756.4] +synonym: "Dyschondroplasia" EXACT [SNOMEDCT_2005_07_31:268274005] +synonym: "Dyschondroplasia" EXACT [SNOMEDCT_2005_07_31:16535008] +synonym: "Dyschondroplasia" EXACT [SNOMEDCT_2005_07_31:205469005] +synonym: "Dyschondroplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:254143008] +synonym: "Dyschondroplasia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:205471005] +is_obsolete: true + +[Term] +id: DOID:794 +name: residual schizophrenia in remission +synonym: "Residual schizophrenia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:51133006] +synonym: "Residual schizophrenia, in remission" EXACT [ICD9CM_2006:295.65] +is_obsolete: true + +[Term] +id: DOID:7941 +name: Barrett's adenocarcinoma +synonym: "adenocarcinoma Arising in Barrett's Mucosa" EXACT [NCI2004_11_17:C7027] +synonym: "Barrett adenocarcinoma" EXACT [] +xref: NCI:C7027 +xref: UMLS_CUI:C1332460 +is_a: DOID:4914 ! esophagus adenocarcinoma + +[Term] +id: DOID:7945 +name: adult central nervous system mixed germ cell tumor +xref: NCI:C27402 +xref: UMLS_CUI:C1332195 +is_a: DOID:5349 ! central nervous system adult germ cell tumor + +[Term] +id: DOID:7946 +name: recurrent cancer of colon +synonym: "recurrent colon carcinoma" EXACT [NCI2004_11_17:C3998] +is_obsolete: true + +[Term] +id: DOID:7949 +name: stroma-dominant and stroma-poor composite ganglioneuroblastoma +xref: NCI:C42060 +xref: UMLS_CUI:C1516761 +is_a: DOID:5193 ! nodular ganglioneuroblastoma + +[Term] +id: DOID:795 +name: residual type schizophrenia +synonym: "Residual schizophrenia" EXACT [SNOMEDCT_2005_07_31:192324005] +synonym: "Residual schizophrenia (disorder)" EXACT [SNOMEDCT_2005_07_31:26025008] +synonym: "Residual schizophrenia, unspecified state" EXACT [ICD9CM_2006:295.60] +synonym: "Residual type schizophrenic disorder" EXACT [ICD9CM_2006:295.6] +synonym: "Restzustand, schizophrenic" EXACT [MTHICD9_2006:295.6] +is_obsolete: true + +[Term] +id: DOID:7951 +name: Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma +xref: NCI:C42059 +xref: UMLS_CUI:C1516760 +is_a: DOID:5193 ! nodular ganglioneuroblastoma + +[Term] +id: DOID:7953 +name: nipple duct carcinoma +def: "A nipple carcinoma that is located_in the nipple duct." [url:http\://www.cancer.gov/dictionary?CdrID=45963] +subset: DO_cancer_slim +xref: NCI:C27234 +xref: UMLS_CUI:C1334967 +is_a: DOID:6629 ! nipple carcinoma + +[Term] +id: DOID:7956 +name: EBV-related posttransplantation lymphoproliferative disease +alt_id: DOID:7828 +def: "An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4." [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] +synonym: "EBV Related Clonal PTLD" EXACT [NCI2004_11_17:C27695] +synonym: "EBV-related PTLD" EXACT [] +synonym: "Epstein-Barr virus related posttransplantation lymphoproliferative disorder" EXACT [] +is_obsolete: true + +[Term] +id: DOID:7958 +name: sarcomatoid penile squamous cell carcinoma +synonym: "sarcomatous carcinoma of the penis" EXACT [NCI2004_11_17:C6984] +xref: NCI:C6984 +xref: UMLS_CUI:C1335923 +is_a: DOID:5518 ! penis squamous cell carcinoma + +[Term] +id: DOID:7959 +name: duodenal gastrinoma +synonym: "duodenal G-cell gastrin producing tumor" EXACT [] +synonym: "Gastrinoma of duodenum" EXACT [NCI2004_11_17:C5731] +synonym: "malignant duodenal gastrinoma" EXACT [] +xref: NCI:C5731 +xref: UMLS_CUI:C1333321 +is_a: DOID:10021 ! duodenum cancer + +[Term] +id: DOID:7960 +name: malignant spiradenoma +synonym: "malignant Eccrine Spiradenoma" EXACT [NCI2004_11_17:C5117] +synonym: "malignant eccrine spiradenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128895006] +xref: NCI:C5117 +xref: SNOMEDCT_US_2015_03_01:128895006 +xref: SNOMEDCT_US_2015_03_01:403942003 +xref: UMLS_CUI:C1266063 +is_a: DOID:4921 ! eccrine sweat gland cancer + +[Term] +id: DOID:7961 +name: cervical non-keratinizing squamous cell carcinoma +xref: NCI:C40188 +xref: UMLS_CUI:C1518366 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:7962 +name: tamoxifen-Related endometrial Lesion +xref: NCI:C40159 +xref: UMLS_CUI:C1515212 +is_a: DOID:1005 ! endometrial disease + +[Term] +id: DOID:7966 +name: type 3 ALPS +is_obsolete: true + +[Term] +id: DOID:7967 +name: lipid-cell variant infiltrating bladder urothelial carcinoma +xref: NCI:C39828 +xref: UMLS_CUI:C1512738 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7968 +name: plasmacytoid variant infiltrating bladder urothelial carcinoma +xref: NCI:C39823 +xref: UMLS_CUI:C1512742 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7969 +name: nested variant infiltrating bladder urothelial carcinoma +xref: NCI:C39819 +xref: UMLS_CUI:C1512741 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7971 +name: microcystic variant infiltrating bladder urothelial carcinoma +xref: NCI:C39820 +xref: UMLS_CUI:C1512740 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7972 +name: lymphoma-like variant infiltrating bladder urothelial carcinoma +xref: NCI:C39822 +xref: UMLS_CUI:C1512739 +is_a: DOID:6477 ! invasive bladder transitional cell carcinoma + +[Term] +id: DOID:7979 +name: helicobacter pylori-related gastric adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:7983 +name: breast malignant eccrine spiradenoma +synonym: "malignant Eccrine Spiradenoma of the breast" EXACT [NCI2004_11_17:C5180] +xref: NCI:C5180 +xref: UMLS_CUI:C1334565 +is_a: DOID:1612 ! breast cancer + +[Term] +id: DOID:7984 +name: sclerosing breast papilloma +xref: NCI:C27944 +xref: UMLS_CUI:C1335932 +is_a: DOID:1626 ! breast duct papilloma + +[Term] +id: DOID:7986 +name: cerebral falx meningioma +synonym: "Falcine meningioma" EXACT [NCI2004_11_17:C5267] +xref: NCI:C5267 +xref: UMLS_CUI:C1333597 +is_a: DOID:4436 ! anterior cranial fossa meningioma + +[Term] +id: DOID:799 +name: varicose veins +def: "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin." [url:http\://www.nlm.nih.gov/medlineplus/varicoseveins.html, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/vv/] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "varices" EXACT [CSP2005:0571-9214] +synonym: "Varix (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:12856003] +synonym: "Venous ectasia" EXACT [SNOMEDCT_2005_07_31:399989005] +synonym: "Venous varices (disorder)" EXACT [SNOMEDCT_2005_07_31:128060009] +xref: ICD10CM:I83.90 +xref: MSH:D014648 +xref: NCI:C35114 +xref: OMIM:192200 +xref: SNOMEDCT_US_2015_03_01:128060009 +xref: SNOMEDCT_US_2015_03_01:12856003 +xref: SNOMEDCT_US_2015_03_01:155468006 +xref: SNOMEDCT_US_2015_03_01:155482006 +xref: SNOMEDCT_US_2015_03_01:234053000 +xref: SNOMEDCT_US_2015_03_01:266331000 +xref: SNOMEDCT_US_2015_03_01:276504003 +xref: SNOMEDCT_US_2015_03_01:399989005 +xref: UMLS_CUI:C0042345 +is_a: DOID:866 ! vein disease + +[Term] +id: DOID:7994 +name: central nervous system osteosarcoma +xref: NCI:C7002 +xref: UMLS_CUI:C1335150 +is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor + +[Term] +id: DOID:7996 +name: familial glomangioma +xref: NCI:C5350 +xref: UMLS_CUI:C1333987 +is_a: DOID:2436 ! glomangioma + +[Term] +id: DOID:7997 +name: thyrotoxicosis +def: "A thyroid gland disease that is characterized by excess thyroid hormone." [url:http\://www.ncbi.nlm.nih.gov/pubmed/22394559] +comment: OMIM mapping confirmed by DO. [LS]. +xref: ICD10CM:E05.9 +xref: ICD9CM:242 +xref: MSH:D013971 +xref: NCI:C61469 +xref: OMIM:275000 +xref: SNOMEDCT_US_2015_03_01:154655004 +xref: SNOMEDCT_US_2015_03_01:154659005 +xref: SNOMEDCT_US_2015_03_01:190239004 +xref: SNOMEDCT_US_2015_03_01:190267008 +xref: SNOMEDCT_US_2015_03_01:267373004 +xref: SNOMEDCT_US_2015_03_01:267464006 +xref: SNOMEDCT_US_2015_03_01:286909009 +xref: SNOMEDCT_US_2015_03_01:90739004 +xref: UMLS_CUI:C0040156 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:7998 +name: hyperthyroidism +def: "A thyroid gland disease that involves an over production of thyroid hormone." [url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001396/] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "overactive thyroid" EXACT [NCI2004_11_17:C3123] +xref: ICD10CM:E05.9 +xref: MSH:D006980 +xref: NCI:C3123 +xref: OMIM:603373 +xref: OMIM:609152 +xref: ORDO:99819 +xref: SNOMEDCT_US_2015_03_01:154655004 +xref: SNOMEDCT_US_2015_03_01:190239004 +xref: SNOMEDCT_US_2015_03_01:267464006 +xref: SNOMEDCT_US_2015_03_01:34486009 +xref: UMLS_CUI:C0020550 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:8000 +name: frontal convexity meningioma +xref: NCI:C5292 +xref: UMLS_CUI:C1333643 +is_a: DOID:6114 ! cerebral convexity meningioma + +[Term] +id: DOID:8002 +name: supraglottis neoplasm +synonym: "neoplasm of supraglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:126697005] +synonym: "Supraglottic tumor" EXACT [NCI2004_11_17:C6793] +xref: NCI:C6793 +xref: SNOMEDCT_US_2015_03_01:126697005 +xref: UMLS_CUI:C0345726 +is_a: DOID:2598 ! laryngeal benign neoplasm + +[Term] +id: DOID:8003 +name: alveoli adenoma +synonym: "adenoma of alveoli" EXACT [NCI2004_11_17:C4140] +synonym: "adenoma of the alveoli" RELATED [] +synonym: "Alveolar adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:8097004] +xref: NCI:C4140 +xref: SNOMEDCT_US_2015_03_01:8097004 +xref: UMLS_CUI:C0334303 +is_a: DOID:5386 ! lung adenoma + +[Term] +id: DOID:8004 +name: ovarian dermoid cyst with prolactin secreting adenoma +is_obsolete: true + +[Term] +id: DOID:8005 +name: ovarian dermoid cyst with secondary pituitary-type tumor +is_obsolete: true + +[Term] +id: DOID:8006 +name: skin meningioma +synonym: "primary meningioma of the skin" EXACT [NCI2004_11_17:C5277] +xref: NCI:C5277 +xref: UMLS_CUI:C1335481 +is_a: DOID:3165 ! skin benign neoplasm + +[Term] +id: DOID:8007 +name: Pancoast tumor +alt_id: DOID:4485 +alt_id: DOID:5762 +synonym: "malignant Superior Sulcus tumor" EXACT [NCI2004_11_17:C7527] +synonym: "Pancoast tumor (disorder)" EXACT [SNOMEDCT_2005_07_31:254638002] +synonym: "Pancoast's syndrome" EXACT [SNOMEDCT_2005_07_31:187860004] +synonym: "Pancoast's syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:278065000] +synonym: "Pancoast's tumour" EXACT [SNOMEDCT_2005_07_31:154486000] +synonym: "Pancoast's tumour" EXACT [SNOMEDCT_2005_07_31:269562004] +synonym: "pulmonary sulcus tumor" EXACT [] +synonym: "Superior pulmonary sulcus syndrome (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:80367008] +xref: MSH:D010178 +xref: NCI:C27710 +xref: NCI:C55815 +xref: NCI:C7527 +xref: SNOMEDCT_US_2015_03_01:154486000 +xref: SNOMEDCT_US_2015_03_01:187860004 +xref: SNOMEDCT_US_2015_03_01:254638002 +xref: SNOMEDCT_US_2015_03_01:269562004 +xref: SNOMEDCT_US_2015_03_01:278065000 +xref: SNOMEDCT_US_2015_03_01:80367008 +xref: UMLS_CUI:C0030271 +xref: UMLS_CUI:C0549471 +xref: UMLS_CUI:C1335574 +is_a: DOID:1324 ! lung cancer + +[Term] +id: DOID:8009 +name: penis mixed squamous cell carcinoma +xref: NCI:C39959 +xref: UMLS_CUI:C1513369 +is_a: DOID:5518 ! penis squamous cell carcinoma + +[Term] +id: DOID:801 +name: hemarthrosis +alt_id: DOID:12025 +alt_id: DOID:13059 +alt_id: DOID:13646 +alt_id: DOID:13933 +alt_id: DOID:14242 +alt_id: DOID:800 +alt_id: DOID:953 +synonym: "Haemarthrosis of shoulder joint" EXACT [SNOMEDCT_2005_07_31:156583009] +synonym: "Haemarthrosis of the ankle and foot" EXACT [SNOMEDCT_2005_07_31:156589008, SNOMEDCT_2005_07_31:202401000] +synonym: "Haemarthrosis of the pelvic region and thigh" EXACT [SNOMEDCT_2005_07_31:202399006] +synonym: "Hemarthrosis involving ankle and foot" EXACT [ICD9CM_2006:719.17] +synonym: "Hemarthrosis involving forearm" EXACT [ICD9CM_2006:719.13] +synonym: "Hemarthrosis involving hand" EXACT [ICD9CM_2006:719.14] +synonym: "Hemarthrosis involving lower leg" EXACT [ICD9CM_2006:719.16] +synonym: "Hemarthrosis involving pelvic region and thigh" EXACT [ICD9CM_2006:719.15] +synonym: "Hemarthrosis involving shoulder region" EXACT [ICD9CM_2006:719.11] +synonym: "Hemarthrosis involving upper arm" EXACT [ICD9CM_2006:719.12] +synonym: "Hemarthrosis of ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:83195003] +synonym: "Hemarthrosis of forearm" EXACT [] +synonym: "Hemarthrosis of forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:15314004] +synonym: "Hemarthrosis of hand" EXACT [] +synonym: "Hemarthrosis of hand (disorder)" EXACT [SNOMEDCT_2005_07_31:27507004] +synonym: "Hemarthrosis of lower leg" EXACT [] +synonym: "Hemarthrosis of lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:35909004] +synonym: "Hemarthrosis of shoulder" EXACT [] +synonym: "Hemarthrosis of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:2602008] +synonym: "Hemarthrosis of the ankle and foot" EXACT [] +synonym: "Hemarthrosis of the ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:267948008] +synonym: "Hemarthrosis of the forearm" EXACT [SNOMEDCT_2005_07_31:202398003] +synonym: "Hemarthrosis of the forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:267945006] +synonym: "Hemarthrosis of the hand" EXACT [SNOMEDCT_2005_07_31:156586001] +synonym: "Hemarthrosis of the lower leg" EXACT [SNOMEDCT_2005_07_31:202400004] +synonym: "Hemarthrosis of the lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:267947003] +synonym: "Hemarthrosis of the pelvic region and thigh" EXACT [] +synonym: "Hemarthrosis of the pelvic region and thigh (disorder)" EXACT [SNOMEDCT_2005_07_31:267946007] +synonym: "Hemarthrosis of the shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:202396004] +synonym: "Hemarthrosis of the upper arm" EXACT [SNOMEDCT_2005_07_31:202397008] +synonym: "Hemarthrosis of the upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:267944005] +synonym: "Hemarthrosis of upper arm" EXACT [] +synonym: "Hemarthrosis of upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:56179000] +xref: ICD10CM:M25.0 +xref: ICD9CM:719.1 +xref: ICD9CM:719.10 +xref: MSH:D006395 +xref: SNOMEDCT_US_2015_03_01:156581006 +xref: SNOMEDCT_US_2015_03_01:156591000 +xref: SNOMEDCT_US_2015_03_01:202394001 +xref: SNOMEDCT_US_2015_03_01:202422006 +xref: SNOMEDCT_US_2015_03_01:81808003 +xref: UMLS_CUI:C0018924 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:8011 +name: metastatic fibrosarcoma +is_obsolete: true + +[Term] +id: DOID:8012 +name: benign pericardial teratoma +synonym: "Mature teratoma of Pericardium" EXACT [NCI2004_11_17:C6744] +xref: NCI:C6744 +xref: UMLS_CUI:C1334638 +is_a: DOID:0060091 ! cardiovascular organ benign neoplasm + +[Term] +id: DOID:8013 +name: penis papillary carcinoma +synonym: "squamous carcinoma of penis, Papillary type" EXACT [NCI2004_11_17:C6983] +xref: NCI:C6983 +xref: UMLS_CUI:C1335322 +is_a: DOID:5518 ! penis squamous cell carcinoma + +[Term] +id: DOID:8014 +name: ovarian dermoid cyst with corticotropin secreting adenoma +is_obsolete: true + +[Term] +id: DOID:8016 +name: anaplastic ganglioglioma +synonym: "anaplastic ganglioglioma" EXACT [NCI2004_11_17:C4717] +synonym: "anaplastic ganglioglioma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134212004] +synonym: "ganglioglioma, anaplastic (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128912009] +is_obsolete: true + +[Term] +id: DOID:8018 +name: renal pelvis and ureter regional transitional cell cancer +synonym: "regional Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [NCI2004_11_17:C8168] +is_obsolete: true + +[Term] +id: DOID:8019 +name: renal pelvis and ureter recurrent transitional cell cancer +synonym: "recurrent Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [NCI2004_11_17:C8254] +is_obsolete: true + +[Term] +id: DOID:8020 +name: glomangiomyoma +xref: NCI:C4223 +xref: SNOMEDCT_US_2015_03_01:189745002 +xref: SNOMEDCT_US_2015_03_01:34550005 +xref: UMLS_CUI:C0334422 +is_a: DOID:5238 ! benign perivascular tumor + +[Term] +id: DOID:8021 +name: medullary carcinoma with amyloid stroma +synonym: "Parafollicular cell carcinoma with Amyloid Stroma" EXACT [NCI2004_11_17:C4193] +is_obsolete: true + +[Term] +id: DOID:8022 +name: liver fibrosarcoma +def: "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] +xref: NCI:C5832 +xref: UMLS_CUI:C1333966 +is_a: DOID:270 ! liver sarcoma + +[Term] +id: DOID:8023 +name: myxoid liposarcoma of the ovary +synonym: "Myxoid Liposarcoma of Ovary" EXACT [NCI2004_11_17:C5235] +xref: NCI:C5235 +xref: UMLS_CUI:C1335170 +is_a: DOID:5697 ! liposarcoma of the ovary + +[Term] +id: DOID:8024 +name: male genital tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of male genital organs" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8025 +name: gastric signet ring cell adenocarcinoma +synonym: "Signet Ring cell adenocarcinoma of the stomach" EXACT [NCI2004_11_17:C5250] +xref: NCI:C5250 +xref: UMLS_CUI:C1335965 +is_a: DOID:6217 ! gastric diffuse adenocarcinoma + +[Term] +id: DOID:8026 +name: intestinal adenocarcinoma of the stomach +synonym: "gastric intestinal type adenocarcinoma" EXACT [NCI2004_11_17:C9157] +is_obsolete: true + +[Term] +id: DOID:8029 +name: sporadic breast cancer +xref: NCI:C7566 +xref: UMLS_CUI:C1336076 +is_a: DOID:3459 ! breast carcinoma + +[Term] +id: DOID:8030 +name: periocular meningioma +xref: NCI:C6777 +xref: UMLS_CUI:C1335383 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:8031 +name: pineal region meningioma +synonym: "Pineal meningioma" EXACT [NCI2004_11_17:C6756] +xref: NCI:C6756 +xref: UMLS_CUI:C1335418 +is_a: DOID:5032 ! pineal gland cancer + +[Term] +id: DOID:8036 +name: childhood ovarian embryonal carcinoma +def: "An ovarian embryonal carcinoma that occurs in childhood." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] +synonym: "childhood embryonal carcinoma of the ovary" RELATED [] +synonym: "pediatric Embryonal carcinoma of Ovary" EXACT [NCI2004_11_17:C6546] +xref: NCI:C6546 +xref: UMLS_CUI:C1332989 +is_a: DOID:5681 ! ovarian embryonal carcinoma + +[Term] +id: DOID:8042 +name: testis polyembryoma +synonym: "Polyembryoma of testis" EXACT [NCI2004_11_17:C40962] +xref: NCI:C40962 +xref: UMLS_CUI:C1514200 +is_a: DOID:5556 ! testicular malignant germ cell cancer + +[Term] +id: DOID:8043 +name: chest wall parachordoma +synonym: "Parachordoma of the Chest Wall" EXACT [NCI2004_11_17:C6720] +xref: NCI:C6720 +xref: UMLS_CUI:C1332934 +is_a: DOID:2647 ! parachordoma + +[Term] +id: DOID:8045 +name: recurrent cancer of prostate +synonym: "recurrent prostate carcinoma" EXACT [NCI2004_11_17:C7902] +is_obsolete: true + +[Term] +id: DOID:8050 +name: bladder tubulo-cystic clear cell adenocarcinoma +xref: NCI:C39847 +xref: UMLS_CUI:C1511203 +is_a: DOID:5306 ! bladder clear cell adenocarcinoma + +[Term] +id: DOID:8051 +name: bladder papillary clear cell adenocarcinoma +xref: NCI:C39848 +xref: UMLS_CUI:C1511196 +is_a: DOID:5306 ! bladder clear cell adenocarcinoma + +[Term] +id: DOID:8055 +name: recurrent urethral cancer +def: "A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3] +synonym: "relapsed urethra carcinoma" EXACT [NCI2004_11_17:C7508] +is_obsolete: true + +[Term] +id: DOID:8057 +name: olfactory groove meningioma +synonym: "meningioma of the Olfactory Groove" EXACT [NCI2004_11_17:C6771] +xref: MSH:D008579 +xref: NCI:C6771 +xref: UMLS_CUI:C1335107 +is_a: DOID:4436 ! anterior cranial fossa meningioma + +[Term] +id: DOID:8058 +name: pituitary stalk meningioma +synonym: "meningioma of the Pituitary Stalk" EXACT [NCI2004_11_17:C5311] +xref: NCI:C5311 +xref: UMLS_CUI:C1335422 +is_a: DOID:3643 ! sella turcica neoplasm + +[Term] +id: DOID:8060 +name: frontal sinus inverted papilloma +synonym: "Inverted papilloma of the Frontal sinus" EXACT [NCI2004_11_17:C6842] +xref: NCI:C6842 +xref: UMLS_CUI:C1333644 +is_a: DOID:1361 ! frontal sinus neoplasm + +[Term] +id: DOID:8068 +name: intraductal breast myoepitheliosis +xref: NCI:C40387 +xref: UMLS_CUI:C1512935 +is_a: DOID:7521 ! breast myoepitheliosis + +[Term] +id: DOID:807 +name: carotid artery occlusion +synonym: "Occlusion and stenosis of carotid artery" EXACT [] +xref: ICD9CM:433.10 +xref: UMLS_CUI:C0375275 +is_a: DOID:5976 ! occlusion precerebral artery + +[Term] +id: DOID:8072 +name: sarcomatous intrahepatic cholangiocarcinoma +xref: NCI:C41620 +xref: UMLS_CUI:C1519184 +is_a: DOID:4928 ! intrahepatic cholangiocarcinoma + +[Term] +id: DOID:8078 +name: childhood central nervous system germinoma +xref: NCI:C27406 +xref: UMLS_CUI:C1332953 +is_a: DOID:4438 ! central nervous system germinoma + +[Term] +id: DOID:8079 +name: monomorphic T-cell PTLD +is_obsolete: true + +[Term] +id: DOID:8080 +name: ovarian mucinous cystic tumor associated with pseudomyxoma peritonei +is_obsolete: true + +[Term] +id: DOID:8081 +name: myxomatous pattern testicular yolk sac tumor +xref: NCI:C39929 +xref: UMLS_CUI:C1515309 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:8082 +name: cellular congenital mesoblastic nephroma +xref: NCI:C39815 +xref: UMLS_CUI:C1516474 +is_a: DOID:4773 ! congenital mesoblastic nephroma + +[Term] +id: DOID:8083 +name: classic congenital mesoblastic nephroma +xref: NCI:C39814 +xref: UMLS_CUI:C1516475 +is_a: DOID:4773 ! congenital mesoblastic nephroma + +[Term] +id: DOID:8084 +name: cervical squamotransitional carcinoma +def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation." [url:http\://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false] +is_obsolete: true + +[Term] +id: DOID:8087 +name: ovarian dermoid cyst with sebaceous carcinoma +is_obsolete: true + +[Term] +id: DOID:8089 +name: advanced adult primary hepatoma +synonym: "Advanced adult primary Hepatocellular carcinoma" EXACT [NCI2004_11_17:C28302] +is_obsolete: true + +[Term] +id: DOID:809 +name: cocaine abuse +def: "A substance abuse that involves the recurring use of cocaine despite negative consequences." [url:http\://en.wikipedia.org/wiki/Cocaine_Abuse] +xref: ICD10CM:F14.1 +xref: ICD9CM:305.6 +xref: ICD9CM:305.60 +xref: MSH:D019970 +xref: SNOMEDCT_US_2015_03_01:78267003 +xref: UMLS_CUI:C0009171 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:8093 +name: maxillary sinus Schneiderian papilloma +synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [NCI2004_11_17:C6839] +xref: NCI:C6839 +xref: UMLS_CUI:C1334646 +is_a: DOID:1358 ! maxillary sinus neoplasm + +[Term] +id: DOID:8094 +name: cervical condylomatous squamous cell carcinoma +def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix." [url:http\://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false, url:http\://www.ncbi.nlm.nih.gov/pubmed/12685182] +synonym: "cervical Warty squamous cell carcinoma" EXACT [NCI2004_11_17:C40191] +is_obsolete: true + +[Term] +id: DOID:8096 +name: bladder mixed adenocarcinoma +xref: NCI:C39839 +xref: UMLS_CUI:C1511192 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:8097 +name: bladder hepatoid adenocarcinoma +xref: NCI:C39838 +xref: UMLS_CUI:C1511189 +is_a: DOID:3711 ! bladder adenocarcinoma + +[Term] +id: DOID:810 +name: HIV-associated lipodystrophy syndrome +def: "A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs." [url:http\://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:8102 +name: fetal adenoma +synonym: "Microfollicular adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:30301008] +xref: NCI:C4160 +xref: SNOMEDCT_US_2015_03_01:30301008 +xref: UMLS_CUI:C0334328 +is_a: DOID:6204 ! follicular adenoma + +[Term] +id: DOID:8104 +name: vaginal tubulovillous adenoma +xref: NCI:C40258 +xref: UMLS_CUI:C1519933 +is_a: DOID:5402 ! vaginal adenoma + +[Term] +id: DOID:8105 +name: extrahepatic bile duct cystadenoma +synonym: "Cystadenoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5851] +xref: NCI:C5851 +xref: UMLS_CUI:C1333504 +is_a: DOID:5384 ! bile duct cystadenoma + +[Term] +id: DOID:8106 +name: cellular phase chronic idiopathic myelofibrosis +xref: NCI:C41237 +xref: UMLS_CUI:C1516553 +is_a: DOID:4971 ! myelofibrosis + +[Term] +id: DOID:8107 +name: S-T syndrome +is_obsolete: true + +[Term] +id: DOID:8108 +name: fibroepithelial polyp of urethra +synonym: "urethral Fibroepithelial polyp" EXACT [NCI2004_11_17:C6170] +xref: NCI:C6170 +xref: UMLS_CUI:C1336884 +is_a: DOID:6873 ! skin tag +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:8109 +name: nephrogenic adenoma of the urethra +synonym: "Nephrogenic adenoma of urethra" EXACT [NCI2004_11_17:C7416] +xref: NCI:C7416 +xref: UMLS_CUI:C1336889 +is_a: DOID:730 ! urethral benign neoplasm + +[Term] +id: DOID:811 +name: lipodystrophy +xref: ICD10CM:E88.1 +xref: ICD9CM:272.6 +xref: MSH:D008060 +xref: NCI:C97093 +xref: SNOMEDCT_US_2015_03_01:190789006 +xref: SNOMEDCT_US_2015_03_01:190790002 +xref: SNOMEDCT_US_2015_03_01:71325002 +xref: UMLS_CUI:C0023787 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:8110 +name: periampullary adenocarcinoma +xref: NCI:C27322 +xref: UMLS_CUI:C1335377 +is_a: DOID:3502 ! ampulla of Vater adenocarcinoma + +[Term] +id: DOID:8115 +name: recurrent childhood cerebral astrocytoma +is_obsolete: true + +[Term] +id: DOID:8117 +name: neuronitis +xref: NCI:C34847 +xref: UMLS_CUI:C0027881 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:8118 +name: mature gastric teratoma +synonym: "Mature teratoma of stomach" EXACT [NCI2004_11_17:C5260] +xref: NCI:C5260 +xref: UMLS_CUI:C1334635 +is_a: DOID:5561 ! gastric teratoma +is_a: DOID:5566 ! mature teratoma + +[Term] +id: DOID:8119 +name: anal canal Paget's disease +synonym: "anal canal Paget disease" EXACT [] +synonym: "Paget's disease of anal canal" RELATED [] +synonym: "Paget's disease of the anal canal" EXACT [NCI2004_11_17:C7477] +xref: NCI:C7477 +xref: UMLS_CUI:C1332261 +is_a: DOID:3692 ! anal canal adenocarcinoma + +[Term] +id: DOID:8120 +name: adenocarcinoma in villous adenoma +synonym: "adenocarcinoma in villous adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:36087009] +synonym: "adenocarcinoma in villous adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189626003] +synonym: "villous adenoma or adenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189627007] +synonym: "villous adenomas and adenocarcinomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189624000] +is_obsolete: true + +[Term] +id: DOID:8121 +name: metastatic extra-osseous Ewing's sarcoma +synonym: "metastatic extraskeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C8801] +is_obsolete: true + +[Term] +id: DOID:8122 +name: pseudovascular skin squamous cell carcinoma +xref: NCI:C27542 +xref: UMLS_CUI:C1335974 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:8125 +name: osteochondrosis +alt_id: DOID:7490 +def: "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone." [url:http\://medical-dictionary.thefreedictionary.com/osteochondrosis, url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrosis.aspx] +synonym: "(Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS)" EXACT [SNOMEDCT_2005_07_31:268125000] +synonym: "Epiphyseal necrosis, NOS" EXACT [SNOMEDCT_2005_07_31:65477003] +synonym: "osteochondritis juvenilis" EXACT [] +synonym: "Osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [MTHICD9_2006:732.9] +xref: ICD10CM:M92 +xref: ICD10CM:M93.9 +xref: ICD9CM:732.6 +xref: MSH:D055034 +xref: NCI:C34879 +xref: SNOMEDCT_US_2015_03_01:123256004 +xref: SNOMEDCT_US_2015_03_01:156822009 +xref: SNOMEDCT_US_2015_03_01:19579005 +xref: SNOMEDCT_US_2015_03_01:203398006 +xref: SNOMEDCT_US_2015_03_01:268125000 +xref: SNOMEDCT_US_2015_03_01:65477003 +xref: UMLS_CUI:C0029429 +xref: UMLS_CUI:C0158445 +is_a: DOID:0080008 ! ischemic bone disease + +[Term] +id: DOID:813 +name: septic arthritis +alt_id: DOID:10920 +alt_id: DOID:12314 +alt_id: DOID:14519 +alt_id: DOID:1683 +alt_id: DOID:2002 +alt_id: DOID:2003 +alt_id: DOID:812 +def: "An arthritis that involves infection by a pathogen located_in joint." [url:http\://emedicine.medscape.com/article/236299-overview, url:http\://en.wikipedia.org/wiki/Septic_arthritis, url:http\://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm, url:http\://www.mayoclinic.com/health/bone-and-joint-infections/DS00545, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000430.htm] +synonym: "infectious arthritis" EXACT [] +xref: ICD10CM:M00 +xref: ICD10CM:M00.9 +xref: ICD9CM:711.0 +xref: ICD9CM:711.9 +xref: ICD9CM:711.90 +xref: ICD9CM:711.91 +xref: ICD9CM:711.92 +xref: ICD9CM:711.93 +xref: ICD9CM:711.94 +xref: ICD9CM:711.95 +xref: ICD9CM:711.96 +xref: ICD9CM:711.97 +xref: MSH:D001170 +xref: NCI:C26700 +xref: SNOMEDCT_US_2015_03_01:156470005 +xref: SNOMEDCT_US_2015_03_01:196415003 +xref: SNOMEDCT_US_2015_03_01:201455003 +xref: SNOMEDCT_US_2015_03_01:201471003 +xref: SNOMEDCT_US_2015_03_01:201591007 +xref: SNOMEDCT_US_2015_03_01:201592000 +xref: SNOMEDCT_US_2015_03_01:201593005 +xref: SNOMEDCT_US_2015_03_01:201594004 +xref: SNOMEDCT_US_2015_03_01:201595003 +xref: SNOMEDCT_US_2015_03_01:201596002 +xref: SNOMEDCT_US_2015_03_01:201597006 +xref: SNOMEDCT_US_2015_03_01:201598001 +xref: SNOMEDCT_US_2015_03_01:201599009 +xref: SNOMEDCT_US_2015_03_01:201623005 +xref: SNOMEDCT_US_2015_03_01:239776008 +xref: SNOMEDCT_US_2015_03_01:371412008 +xref: SNOMEDCT_US_2015_03_01:372939007 +xref: SNOMEDCT_US_2015_03_01:396234004 +xref: SNOMEDCT_US_2015_03_01:428437005 +xref: SNOMEDCT_US_2015_03_01:48548006 +xref: SNOMEDCT_US_2015_03_01:55388007 +xref: SNOMEDCT_US_2015_03_01:83486002 +xref: UMLS_CUI:C0003869 +xref: UMLS_CUI:C0157843 +xref: UMLS_CUI:C0157844 +xref: UMLS_CUI:C0157845 +xref: UMLS_CUI:C0157846 +xref: UMLS_CUI:C0157847 +xref: UMLS_CUI:C0157848 +xref: UMLS_CUI:C0157849 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:8130 +name: breast columnar cell mucinous carcinoma +xref: NCI:C40355 +xref: UMLS_CUI:C1511305 +is_a: DOID:3610 ! breast mucinous carcinoma + +[Term] +id: DOID:8131 +name: sclerosing mucoepidermoid thyroid carcinoma with eosinophilia +is_obsolete: true + +[Term] +id: DOID:8133 +name: epiglottis cancer +alt_id: DOID:8132 +alt_id: DOID:8896 +synonym: "epiglottic cancer" EXACT [] +synonym: "malignant neoplasm of anterior aspect of epiglottis" EXACT [] +synonym: "malignant neoplasm of anterior epiglottis (disorder)" EXACT [SNOMEDCT_2005_07_31:187681002] +synonym: "malignant neoplasm of anterior epiglottis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187684005] +synonym: "malignant neoplasm of anterior surface of epiglottis" EXACT [MTH:U001374] +synonym: "malignant neoplasm of epiglottis" EXACT [SNOMEDCT_2005_07_31:93784003] +synonym: "malignant neoplasm of epiglottis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:308120004] +synonym: "malignant tumor of Epiglottis" EXACT [NCI2004_11_17:C4836] +xref: ICD10CM:C10.1 +xref: ICD9CM:146.4 +xref: NCI:C35697 +xref: NCI:C4836 +xref: SNOMEDCT_US_2015_03_01:187681002 +xref: SNOMEDCT_US_2015_03_01:187684005 +xref: SNOMEDCT_US_2015_03_01:187849008 +xref: SNOMEDCT_US_2015_03_01:308120004 +xref: SNOMEDCT_US_2015_03_01:93670003 +xref: SNOMEDCT_US_2015_03_01:93784003 +xref: UMLS_CUI:C0496765 +xref: UMLS_CUI:C0585946 +xref: UMLS_CUI:C1112382 +is_a: DOID:13476 ! supraglottis cancer + +[Term] +id: DOID:8135 +name: gallbladder lymphoma +synonym: "Lymphoma of the gallbladder" EXACT [NCI2004_11_17:C5734] +xref: NCI:C5734 +xref: UMLS_CUI:C1333748 +is_a: DOID:3121 ! gallbladder cancer + +[Term] +id: DOID:8136 +name: transitional cell carcinoma of the ureter with mixed differentiation +synonym: "ureteral transitional cell carcinoma with mixed differentiation" EXACT [NCI2004_11_17:C6158] +is_obsolete: true + +[Term] +id: DOID:8137 +name: thymus clear cell carcinoma +synonym: "Clear cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6462] +xref: NCI:C6462 +xref: UMLS_CUI:C1333069 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:8138 +name: thymus sarcomatoid carcinoma +synonym: "Thymic Carcinosarcoma" EXACT [NCI2004_11_17:C6463] +xref: NCI:C6463 +xref: UMLS_CUI:C1335924 +is_a: DOID:3284 ! thymic carcinoma + +[Term] +id: DOID:8140 +name: adrenal gland ganglioneuroblastoma +xref: NCI:C7646 +xref: UMLS_CUI:C1332176 +is_a: DOID:3953 ! adrenal gland cancer + +[Term] +id: DOID:8144 +name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma +synonym: "CLL/SLL with Unmutated IGVH" EXACT [NCI2004_11_17:C37204] +xref: NCI:C37204 +xref: UMLS_CUI:C1333038 +is_a: DOID:6354 ! CLL/SLL + +[Term] +id: DOID:8145 +name: metastatic neoplasm to the gallbladder +synonym: "metastatic tumor to the gallbladder" EXACT [NCI2004_11_17:C7482] +synonym: "secondary malignant neoplasm of gallbladder (disorder)" EXACT [SNOMEDCT_2005_07_31:94312000] +is_obsolete: true + +[Term] +id: DOID:8146 +name: anaplastic secondary supratentorial astrocytic neoplasm +synonym: "Undifferentiated secondary Supratentorial astrocytoma" EXACT [NCI2004_11_17:C5416] +is_obsolete: true + +[Term] +id: DOID:8148 +name: recurrent childhood malignant germ cell tumor +synonym: "recurrent childhood malignant germ cell neoplasm" EXACT [NCI2004_11_17:C9221] +is_obsolete: true + +[Term] +id: DOID:8149 +name: malignant childhood germ cell neoplasm +synonym: "malignant pediatric germ cell tumor" EXACT [NCI2004_11_17:C6541] +xref: NCI:C6541 +xref: UMLS_CUI:C1334574 +is_a: DOID:6053 ! pediatric germ cell cancer + +[Term] +id: DOID:8150 +name: pancreatic invasive intraductal papillary-mucinous carcinoma +xref: NCI:C5726 +xref: UMLS_CUI:C1518871 +is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma + +[Term] +id: DOID:8151 +name: appendiceal L-cell glucagon-like peptide producing tumor +synonym: "malignant appendiceal glucagonoma" EXACT [] +synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [] +xref: NCI:C27445 +xref: UMLS_CUI:C3274138 +is_a: DOID:11239 ! appendix cancer + +[Term] +id: DOID:8152 +name: distal 1/3 of common bile duct adenocarcinoma +synonym: "adenocarcinoma of the Distal 1/3 of the Common bile duct" EXACT [NCI2004_11_17:C7976] +is_obsolete: true + +[Term] +id: DOID:8153 +name: fibroosseous pseudotumor of digits +synonym: "Fibroosseous Digital Pseudotumor" EXACT [NCI2004_11_17:C6573] +xref: NCI:C6573 +xref: UMLS_CUI:C1333612 +is_a: DOID:0060094 ! bone benign neoplasm + +[Term] +id: DOID:8158 +name: complement component 5 deficiency +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "C5 deficiency" EXACT [] +xref: NCI2009_04D:C9469 +xref: OMIM:609536 +is_a: DOID:626 ! complement deficiency + +[Term] +id: DOID:8160 +name: adult desmoplastic small round cell tumor +def: "A desmoplastic small round-cell tumor that primarily is located_in the abdomen." [url:http\://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor] +is_obsolete: true + +[Term] +id: DOID:8161 +name: thyroid hurthle cell carcinoma +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Oncocytic carcinoma of the Thyroid" EXACT [NCI2004_11_17:C4946] +xref: MSH:C536913 +xref: NCI:C4946 +xref: OMIM:607464 +xref: SNOMEDCT_US_2015_03_01:423158009 +xref: UMLS_CUI:C0749424 +is_a: DOID:3963 ! thyroid carcinoma + +[Term] +id: DOID:8162 +name: thyroid hurthle cell adenoma +synonym: "benign Oncocytoma of the Thyroid" EXACT [NCI2004_11_17:C6042] +xref: NCI:C6042 +xref: UMLS_CUI:C1336750 +is_a: DOID:6204 ! follicular adenoma + +[Term] +id: DOID:8163 +name: gallbladder cancer unresectable +synonym: "gallbladder carcinoma Unresectable" EXACT [NCI2004_11_17:C7890] +is_obsolete: true + +[Term] +id: DOID:8167 +name: gallbladder melanoma +synonym: "malignant melanoma of gallbladder" EXACT [NCI2004_11_17:C5735] +xref: NCI:C5735 +xref: UMLS_CUI:C1333749 +is_a: DOID:3121 ! gallbladder cancer + +[Term] +id: DOID:817 +name: interstitial myocarditis +synonym: "Interstitial myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:37925008] +xref: NCI:C35786 +xref: SNOMEDCT_US_2015_03_01:37925008 +xref: UMLS_CUI:C0027060 +is_a: DOID:819 ! mediastinitis +is_a: DOID:820 ! myocarditis + +[Term] +id: DOID:8170 +name: fibroepithelial polyp of the anus +synonym: "Fibroepithelial polyp of anus" EXACT [NCI2004_11_17:C5604] +xref: NCI:C5604 +is_a: DOID:6873 ! skin tag + +[Term] +id: DOID:8177 +name: endocervical type cervical adenomyoma +xref: NCI:C40232 +xref: UMLS_CUI:C1516405 +is_a: DOID:4995 ! cervical adenomyoma + +[Term] +id: DOID:8178 +name: endometrial type cervical adenomyoma +xref: NCI:C40233 +xref: UMLS_CUI:C1516406 +is_a: DOID:4995 ! cervical adenomyoma + +[Term] +id: DOID:8179 +name: cervical atypical polypoid adenomyoma +xref: NCI:C40234 +xref: UMLS_CUI:C1516409 +is_a: DOID:4995 ! cervical adenomyoma + +[Term] +id: DOID:8186 +name: fallopian tube gestational choriocarcinoma +synonym: "Gestational Choriocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6278] +xref: NCI:C6278 +xref: UMLS_CUI:C1333593 +is_a: DOID:1963 ! fallopian tube carcinoma + +[Term] +id: DOID:8187 +name: gestational uterine corpus choriocarcinoma +is_a: DOID:2025 ! gestational choriocarcinoma +is_a: DOID:8188 ! uterine corpus choriocarcinoma + +[Term] +id: DOID:8188 +name: uterine corpus choriocarcinoma +xref: NCI:C27246 +xref: UMLS_CUI:C1336904 +is_a: DOID:3594 ! choriocarcinoma +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:819 +name: mediastinitis +synonym: "Mediastinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:47597000] +xref: ICD10CM:J98.5 +xref: ICD9CM:519.2 +xref: MSH:D008480 +xref: NCI:C26827 +xref: SNOMEDCT_US_2015_03_01:47597000 +xref: UMLS_CUI:C0025064 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:8192 +name: recurrent vulva cancer +synonym: "recurrent Vulvar carcinoma" EXACT [NCI2004_11_17:C9054] +is_obsolete: true + +[Term] +id: DOID:8193 +name: papillary pattern testicular yolk sac tumor +xref: NCI:C39928 +xref: UMLS_CUI:C1515310 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:8194 +name: recurrent pediatric hepatoma +synonym: "recurrent pediatric Hepatocellular carcinoma" EXACT [NCI2004_11_17:C9046] +is_obsolete: true + +[Term] +id: DOID:8195 +name: hepatoid pattern testicular yolk sac tumor +xref: NCI:C39931 +xref: UMLS_CUI:C1515306 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:8197 +name: ovarian dermoid cyst with melanoma +is_obsolete: true + +[Term] +id: DOID:8199 +name: bursa syphilis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Syphilis of synovium, tendon or bursa (disorder)" EXACT [SNOMEDCT_2005_07_31:186899004] +synonym: "Syphilis of synovium, tendon or bursa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186900009] +synonym: "Syphilis of synovium, tendon, and bursa" EXACT [ICD9CM_2006:095.7] +is_obsolete: true + +[Term] +id: DOID:82 +name: myotonic cataract +synonym: "Myotonic cataract" EXACT [ICD9CM_2006:366.43] +synonym: "Myotonic cataract (disorder)" EXACT [SNOMEDCT_2005_07_31:64741003] +xref: ICD9CM:366.43 +xref: NCI:C34833 +xref: SNOMEDCT_US_2015_03_01:64741003 +xref: UMLS_CUI:C0027128 +is_a: DOID:83 ! cataract + +[Term] +id: DOID:820 +name: myocarditis +def: "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle." [url:http\://en.wikipedia.org/wiki/Myocarditis] +synonym: "Myocardial inflammation (finding)" EXACT [SNOMEDCT_2005_07_31:251060004] +xref: ICD10CM:I51.4 +xref: ICD9CM:429.0 +xref: KEGG:05416 +xref: MSH:D009205 +xref: NCI:C34831 +xref: SNOMEDCT_US_2015_03_01:155380004 +xref: SNOMEDCT_US_2015_03_01:195119007 +xref: SNOMEDCT_US_2015_03_01:251060004 +xref: SNOMEDCT_US_2015_03_01:50920009 +xref: UMLS_CUI:C0027059 +is_a: DOID:3978 ! extrinsic cardiomyopathy + +[Term] +id: DOID:8200 +name: tertiary syphilis +def: "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "late syphilis" EXACT [] +xref: ICD10CM:A52 +xref: ICD10CM:A52.3 +xref: ICD10CM:A52.9 +xref: ICD9CM:097.0 +xref: MSH:C536774 +xref: SNOMEDCT_US_2015_03_01:186905004 +xref: SNOMEDCT_US_2015_03_01:187358009 +xref: SNOMEDCT_US_2015_03_01:276200006 +xref: SNOMEDCT_US_2015_03_01:72083004 +xref: UMLS_CUI:C0153188 +is_a: DOID:4166 ! syphilis + +[Term] +id: DOID:8203 +name: sacral spinal canal and spinal cord meningioma +synonym: "meningioma of the Sacral Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5299] +xref: NCI:C5299 +xref: UMLS_CUI:C1335893 +is_a: DOID:1140 ! spinal canal and spinal cord meningioma + +[Term] +id: DOID:8205 +name: alloimmunization +is_obsolete: true + +[Term] +id: DOID:8207 +name: hilar lung carcinoma +xref: NCI:C7454 +xref: UMLS_CUI:C1334445 +is_a: DOID:3905 ! lung carcinoma +is_a: DOID:7696 ! lung hilum cancer + +[Term] +id: DOID:8208 +name: lung superior sulcus carcinoma +synonym: "superior sulcus carcinoma of lung" RELATED [] +synonym: "Superior Sulcus carcinoma of the lung" EXACT [NCI2004_11_17:C7779] +xref: NCI:C7779 +xref: UMLS_CUI:C1336529 +is_a: DOID:8007 ! Pancoast tumor + +[Term] +id: DOID:8211 +name: fallopian tube cystadenofibroma +xref: NCI:C40114 +xref: UMLS_CUI:C1517111 +is_a: DOID:5478 ! fallopian tube adenofibroma + +[Term] +id: DOID:8216 +name: parapharyngeal meningioma +xref: NCI:C5303 +xref: UMLS_CUI:C1335345 +is_a: DOID:3565 ! meningioma + +[Term] +id: DOID:8219 +name: recurrent epithelioid sarcoma +synonym: "relapsed epithelioid sarcoma" EXACT [NCI2004_11_17:C5059] +is_obsolete: true + +[Term] +id: DOID:8220 +name: recurrent extraosseous Ewing's sarcoma +synonym: "recurrent extraskeletal Ewing's sarcoma" EXACT [NCI2004_11_17:C8803] +is_obsolete: true + +[Term] +id: DOID:8221 +name: upper clivus meningioma +synonym: "meningioma of the Upper Clivus" EXACT [NCI2004_11_17:C5290] +xref: NCI:C5290 +xref: UMLS_CUI:C1336871 +is_a: DOID:6517 ! clivus meningioma + +[Term] +id: DOID:8222 +name: adenocarcinoma in tubular adenoma +synonym: "adenocarcinoma in tubular adenoma" EXACT [SNOMEDCT_2005_07_31:43233001] +is_obsolete: true + +[Term] +id: DOID:8223 +name: penile urethral cancer +xref: NCI:C39868 +xref: UMLS_CUI:C1518950 +is_a: DOID:736 ! male urethral cancer + +[Term] +id: DOID:8224 +name: central breast papilloma +alt_id: DOID:8226 +synonym: "large duct breast papilloma" EXACT [NCI2004_11_17:C36087] +synonym: "solitary intraductal breast papilloma" EXACT [] +xref: NCI:C36087 +xref: UMLS_CUI:C1332896 +is_a: DOID:1626 ! breast duct papilloma + +[Term] +id: DOID:8225 +name: microscopic breast papilloma +xref: NCI:C36088 +xref: UMLS_CUI:C1335390 +is_a: DOID:1626 ! breast duct papilloma + +[Term] +id: DOID:8227 +name: atypical breast papilloma +xref: NCI:C36089 +xref: UMLS_CUI:C1332346 +is_a: DOID:1626 ! breast duct papilloma + +[Term] +id: DOID:8228 +name: metastatic extraskeletal osteosarcoma +synonym: "metastatic extraskeletal Osteogenic sarcoma" EXACT [NCI2004_11_17:C8808] +is_obsolete: true + +[Term] +id: DOID:8229 +name: metastatic small intestinal adenocarcinoma +is_obsolete: true + +[Term] +id: DOID:823 +name: periapical periodontitis +synonym: "Apical periodontitis (disorder)" EXACT [SNOMEDCT_2005_07_31:39273001] +synonym: "Apical periodontitis NOS" EXACT [MTHICD9_2006:522.6] +xref: ICD10CM:K04.5 +xref: MSH:D010485 +xref: SNOMEDCT_US_2015_03_01:39273001 +xref: UMLS_CUI:C0031030 +is_a: DOID:824 ! periodontitis + +[Term] +id: DOID:8230 +name: intrahepatic biliary papillomatosis +xref: NCI:C7125 +xref: UMLS_CUI:C1334258 +is_a: DOID:5468 ! biliary papillomatosis + +[Term] +id: DOID:8233 +name: inflammatory liposarcoma +synonym: "Inflammatory liposarcoma" EXACT [SNOMEDCT_2005_07_31:28655007] +xref: NCI:C6508 +xref: SNOMEDCT_US_2015_03_01:28655007 +xref: UMLS_CUI:C1370890 +is_a: DOID:5690 ! atypical lipomatous tumor + +[Term] +id: DOID:8234 +name: malignant hemangiopericytoma recurrent +synonym: "relapsed malignant hemangiopericytoma" EXACT [NCI2004_11_17:C9254] +is_obsolete: true + +[Term] +id: DOID:8238 +name: metastatic endometrial carcinoma +synonym: "stage IV cancer of Uterus" EXACT [NCI2004_11_17:C4006] +is_obsolete: true + +[Term] +id: DOID:8239 +name: lower clivus meningioma +synonym: "meningioma of the lower Clivus" EXACT [NCI2004_11_17:C5288] +xref: NCI:C5288 +xref: UMLS_CUI:C1334434 +is_a: DOID:6517 ! clivus meningioma + +[Term] +id: DOID:824 +name: periodontitis +synonym: "chronic pericementitis" EXACT [MTHICD9_2006:523.4] +xref: EFO:0000649 +xref: ICD10CM:K05.3 +xref: MSH:D010518 +xref: NCI:C34918 +xref: SNOMEDCT_US_2015_03_01:155648008 +xref: SNOMEDCT_US_2015_03_01:266491004 +xref: SNOMEDCT_US_2015_03_01:41565005 +xref: UMLS_CUI:C0031099 +is_a: DOID:3388 ! periodontal disease + +[Term] +id: DOID:8243 +name: meningeal melanomatosis +synonym: "Leptomeningeal melanomatosis" EXACT [NCI2004_11_17:C6891] +synonym: "Meningeal melanomatosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128731008] +xref: NCI:C6891 +xref: SNOMEDCT_US_2015_03_01:128731008 +xref: UMLS_CUI:C1266114 +is_a: DOID:4955 ! central nervous system melanocytic neoplasm + +[Term] +id: DOID:8244 +name: bone recurrent PNET +synonym: "recurrent Neuroepithelioma of bone" EXACT [NCI2004_11_17:C27354] +is_obsolete: true + +[Term] +id: DOID:8246 +name: breast myoid hamartoma +is_obsolete: true + +[Term] +id: DOID:8251 +name: adult pleomorphic rhabdomyosarcoma +xref: NCI:C27369 +xref: UMLS_CUI:C1332211 +is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma + +[Term] +id: DOID:8252 +name: chronic rhinitis +def: "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding." [url:http\://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh] +synonym: "Rhinitis - chronic" EXACT [SNOMEDCT_2005_07_31:270532004] +xref: ICD10CM:J31.0 +xref: ICD9CM:472.0 +xref: NCI:C34479 +xref: SNOMEDCT_US_2015_03_01:155522005 +xref: SNOMEDCT_US_2015_03_01:195764003 +xref: SNOMEDCT_US_2015_03_01:195774000 +xref: SNOMEDCT_US_2015_03_01:270532004 +xref: SNOMEDCT_US_2015_03_01:86094006 +xref: UMLS_CUI:C0008711 +is_a: DOID:4483 ! rhinitis + +[Term] +id: DOID:8255 +name: vulva fibroepithelial polyp +synonym: "Vulval Fibroepithelial polyp" EXACT [NCI2004_11_17:C6857] +xref: NCI:C6857 +xref: UMLS_CUI:C1336978 +is_a: DOID:6873 ! skin tag + +[Term] +id: DOID:8256 +name: olfactory neural tumor +is_a: DOID:366 ! olfactory nerve neoplasm + +[Term] +id: DOID:8257 +name: transitional cell carcinoma of the ureter with squamous differentiation +synonym: "ureteral transitional cell carcinoma with squamous differentiation" EXACT [NCI2004_11_17:C6156] +is_obsolete: true + +[Term] +id: DOID:8259 +name: bulbomembranous urethral cancer +xref: NCI:C39869 +xref: UMLS_CUI:C1511339 +is_a: DOID:736 ! male urethral cancer + +[Term] +id: DOID:8269 +name: adenocarcinoma in adenomatous polyposis coli +synonym: "adenocarcinoma in adenomatous polyposis Coli" EXACT [NCI2004_11_17:C4134] +synonym: "adenocarcinoma in adenomatous polyposis coli (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:57513006] +is_obsolete: true + +[Term] +id: DOID:827 +name: ureter tuberculosis +def: "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures." [url:http\://emedicine.medscape.com/article/450651-overview] +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of ureter" EXACT [] +xref: ICD9CM:016.2 +xref: SNOMEDCT_US_2015_03_01:81359005 +xref: UMLS_CUI:C0152800 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:8272 +name: anterior urethra cancer +synonym: "Anterior urethral malignant tumor" EXACT [NCI2004_11_17:C7641] +xref: NCI:C7641 +xref: UMLS_CUI:C0279930 +is_a: DOID:738 ! female urethral cancer + +[Term] +id: DOID:8274 +name: synovial angioma +synonym: "hemangioma of Synovium" EXACT [NCI2004_11_17:C6525] +xref: NCI:C6525 +xref: UMLS_CUI:C1336546 +is_a: DOID:469 ! deep angioma + +[Term] +id: DOID:8275 +name: intratubular embryonal carcinoma +def: "An embryonal testis carcinoma that is located within a tubule." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11900581] +xref: NCI:C7325 +xref: UMLS_CUI:C1336096 +is_a: DOID:5680 ! embryonal testis carcinoma + +[Term] +id: DOID:8276 +name: Hodgkin-like posttransplantation lymphoproliferative disease +synonym: "Hodgkin's-like PTLD" EXACT [NCI2004_11_17:C7239] +is_obsolete: true + +[Term] +id: DOID:8281 +name: recurrent malignant peripheral nerve sheath neoplasm +synonym: "relapsed MPNST" EXACT [NCI2004_11_17:C8823] +is_obsolete: true + +[Term] +id: DOID:8282 +name: adult epithelioid sarcoma +xref: NCI:C7944 +xref: UMLS_CUI:C0279545 +is_a: DOID:6193 ! epithelioid sarcoma + +[Term] +id: DOID:8283 +name: peritonitis +alt_id: DOID:8694 +alt_id: DOID:8863 +alt_id: DOID:9233 +def: "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." [url:http\://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001335.htm] +synonym: "acute generalized peritonitis" EXACT [] +synonym: "acute generalized peritonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:52890006] +synonym: "primary bacterial peritonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:11836002] +synonym: "Retractile mesenteritis" EXACT [MTHICD9_2006:567.82] +synonym: "Retractile mesenteritis (disorder)" EXACT [SNOMEDCT_2005_07_31:86422009] +synonym: "sclerosing mesenteritis" EXACT [] +xref: ICD9CM:567.8 +xref: ICD9CM:567.89 +xref: SNOMEDCT_US_2015_03_01:197183001 +xref: SNOMEDCT_US_2015_03_01:197187000 +xref: UMLS_CUI:C0029823 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:8285 +name: nonmetastatic epithelioid sarcoma +synonym: "Non-metastatic epithelioid cell sarcoma" EXACT [NCI2004_11_17:C8800] +is_obsolete: true + +[Term] +id: DOID:8286 +name: metastatic epithelioid sarcoma +synonym: "metastatic epithelioid cell sarcoma" EXACT [NCI2004_11_17:C8799] +is_obsolete: true + +[Term] +id: DOID:8287 +name: Multiple Chondromatous hamartoma of lung +synonym: "Multiple Chondromatous hamartoma of the lung" EXACT [NCI2004_11_17:C5663] +is_obsolete: true + +[Term] +id: DOID:8288 +name: clear cell squamous cell skin carcinoma +synonym: "Clear cell squamous cell carcinoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:254652000] +synonym: "Clear cell squamous cell skin carcinoma" EXACT [NCI2004_11_17:C4459] +xref: NCI:C4459 +xref: SNOMEDCT_US_2015_03_01:254652000 +xref: UMLS_CUI:C0345978 +is_a: DOID:3151 ! skin squamous cell carcinoma + +[Term] +id: DOID:8289 +name: breast adenolipoma +is_obsolete: true + +[Term] +id: DOID:829 +name: crystal arthropathy +alt_id: DOID:10213 +alt_id: DOID:12248 +alt_id: DOID:13796 +alt_id: DOID:14024 +alt_id: DOID:14158 +alt_id: DOID:2008 +alt_id: DOID:2009 +alt_id: DOID:828 +synonym: "Crystal arthropathy NOS, of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:201719005] +synonym: "Crystal arthropathy NOS, of the ankle and foot (disorder)" EXACT [SNOMEDCT_2005_07_31:201695007] +synonym: "Crystal arthropathy NOS, of the forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:201691003] +synonym: "Crystal arthropathy NOS, of the hand (disorder)" EXACT [SNOMEDCT_2005_07_31:201692005] +synonym: "Crystal arthropathy NOS, of the lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:201694006] +synonym: "Crystal arthropathy NOS, of the pelvic region and thigh" EXACT [] +synonym: "Crystal arthropathy NOS, of the pelvic region and thigh (disorder)" EXACT [SNOMEDCT_2005_07_31:201693000] +synonym: "Crystal arthropathy NOS, of the shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:201689006] +synonym: "Crystal arthropathy NOS, of the upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:201690002] +synonym: "Crystal arthropathy of ankle and/or foot" EXACT [] +synonym: "Crystal arthropathy of ankle and/or foot (disorder)" EXACT [SNOMEDCT_2005_07_31:75468006] +synonym: "Crystal arthropathy of forearm" EXACT [] +synonym: "Crystal arthropathy of forearm (disorder)" EXACT [SNOMEDCT_2005_07_31:22469005] +synonym: "Crystal arthropathy of hand" EXACT [] +synonym: "Crystal arthropathy of hand (disorder)" EXACT [SNOMEDCT_2005_07_31:26241001] +synonym: "Crystal arthropathy of lower leg" EXACT [] +synonym: "Crystal arthropathy of lower leg (disorder)" EXACT [SNOMEDCT_2005_07_31:21757001] +synonym: "Crystal arthropathy of multiple sites" EXACT [] +synonym: "Crystal arthropathy of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:20075001] +synonym: "Crystal arthropathy of shoulder region" EXACT [] +synonym: "Crystal arthropathy of shoulder region (disorder)" EXACT [SNOMEDCT_2005_07_31:34427002] +synonym: "Crystal arthropathy of upper arm" EXACT [] +synonym: "Crystal arthropathy of upper arm (disorder)" EXACT [SNOMEDCT_2005_07_31:46237005] +synonym: "Unspecified crystal arthropathy involving ankle and foot" EXACT [ICD9CM_2006:712.97] +synonym: "Unspecified crystal arthropathy involving forearm" EXACT [ICD9CM_2006:712.93] +synonym: "Unspecified crystal arthropathy involving hand" EXACT [ICD9CM_2006:712.94] +synonym: "Unspecified crystal arthropathy involving lower leg" EXACT [ICD9CM_2006:712.96] +synonym: "Unspecified crystal arthropathy involving multiple sites" EXACT [ICD9CM_2006:712.99] +synonym: "Unspecified crystal arthropathy involving pelvic region and thigh" EXACT [ICD9CM_2006:712.95] +synonym: "Unspecified crystal arthropathy involving shoulder region" EXACT [ICD9CM_2006:712.91] +synonym: "Unspecified crystal arthropathy involving upper arm" EXACT [ICD9CM_2006:712.92] +is_obsolete: true + +[Term] +id: DOID:8292 +name: atypical follicular adenoma +synonym: "Atypical Follicular adenoma" EXACT [NCI2004_11_17:C27729] +synonym: "Atypical follicular adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:128892009] +xref: NCI:C27729 +xref: SNOMEDCT_US_2015_03_01:128892009 +xref: UMLS_CUI:C1266046 +is_a: DOID:6204 ! follicular adenoma + +[Term] +id: DOID:8295 +name: scabies +def: "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] +synonym: "Infestation by Sarcoptes scabiei" EXACT [MTHICD9_2006:133.0] +synonym: "Infestation by Sarcoptes scabiei var hominis" EXACT [SNOMEDCT_2005_07_31:128869009] +synonym: "Sarcoptic itch" EXACT [SNOMEDCT_2005_07_31:187215008] +xref: ICD10CM:B86 +xref: ICD9CM:133.0 +xref: MSH:D012532 +xref: NCI:C34998 +xref: SNOMEDCT_US_2015_03_01:128869009 +xref: SNOMEDCT_US_2015_03_01:154422001 +xref: SNOMEDCT_US_2015_03_01:187215008 +xref: SNOMEDCT_US_2015_03_01:266224002 +xref: SNOMEDCT_US_2015_03_01:67172004 +xref: UMLS_CUI:C0036262 +is_a: DOID:7894 ! mite infestation + +[Term] +id: DOID:83 +name: cataract +def: "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." [url:http\://en.wikipedia.org/wiki/Cataract, url:http\://www.ncbi.nlm.nih.gov/pubmed/10414631, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001996/] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:H26 +xref: ICD9CM:366.8 +xref: OMIM:115650 +xref: OMIM:115660 +xref: OMIM:115665 +xref: OMIM:115700 +xref: OMIM:115800 +xref: OMIM:115900 +xref: OMIM:116100 +xref: OMIM:116200 +xref: OMIM:116300 +xref: OMIM:116400 +xref: OMIM:116700 +xref: OMIM:116800 +xref: OMIM:212500 +xref: OMIM:302200 +xref: OMIM:600881 +xref: OMIM:601202 +xref: OMIM:601371 +xref: OMIM:601547 +xref: OMIM:601885 +xref: OMIM:604219 +xref: OMIM:604307 +xref: OMIM:605728 +xref: OMIM:605749 +xref: OMIM:607304 +xref: OMIM:609026 +xref: OMIM:609376 +xref: OMIM:609741 +xref: OMIM:610019 +xref: OMIM:610202 +xref: OMIM:610425 +xref: OMIM:611391 +xref: OMIM:611544 +xref: OMIM:611597 +xref: OMIM:612968 +xref: OMIM:613887 +xref: OMIM:614422 +xref: OMIM:614691 +xref: OMIM:614697 +xref: OMIM:615188 +xref: OMIM:615274 +xref: OMIM:615277 +xref: OMIM:616279 +xref: OMIM:616509 +xref: SNOMEDCT_US_2015_03_01:193620000 +xref: SNOMEDCT_US_2015_03_01:193622008 +xref: UMLS_CUI:C0029531 +is_a: DOID:110 ! lens disease + +[Term] +id: DOID:8302 +name: mixed endometrial stromal and smooth muscle tumor +synonym: "Stromomyoma" EXACT [NCI2004_11_17:C40178] +xref: NCI:C40178 +xref: UMLS_CUI:C1513364 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:8303 +name: congenital granular cell tumor +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:8304 +name: lymph node palisaded myofibroblastoma +synonym: "Palisaded Myofibroblastoma of the Lymph Node" EXACT [NCI2004_11_17:C6584] +xref: NCI:C6584 +xref: UMLS_CUI:C1335295 +is_a: DOID:10619 ! lymph node cancer + +[Term] +id: DOID:8305 +name: nonossifying fibromyxoid tumor +synonym: "Nonossifying Fibromyxoma" EXACT [NCI2004_11_17:C6583] +xref: NCI:C6583 +xref: UMLS_CUI:C1335063 +is_a: DOID:3350 ! mesenchymal cell neoplasm + +[Term] +id: DOID:8307 +name: early invasive cervical adenocarcinoma +xref: NCI:C36096 +xref: UMLS_CUI:C1333369 +is_a: DOID:3702 ! cervical adenocarcinoma + +[Term] +id: DOID:8309 +name: metastatic carcinoma from the small bowel +synonym: "metastatic carcinoma from the small Intestine" EXACT [NCI2004_11_17:C8637] +is_obsolete: true + +[Term] +id: DOID:8310 +name: sclerosing adenosis of breast +synonym: "Sclerosing breast Adenosis" EXACT [NCI2004_11_17:C5205] +xref: NCI:C5205 +xref: SNOMEDCT_US_2015_03_01:105261000119101 +xref: UMLS_CUI:C1335931 +is_a: DOID:3274 ! proliferative type fibrocystic change of breast +is_a: DOID:5998 ! microglandular adenosis + +[Term] +id: DOID:8329 +name: resectable small intestine carcinoma +synonym: "Resectable carcinoma of the Small Bowel" EXACT [NCI2004_11_17:C8639] +is_obsolete: true + +[Term] +id: DOID:833 +name: auditory system cancer +def: "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs." [url:http\://en.wikipedia.org/wiki/Ear, url:http\://www.buzzle.com/articles/ear-cancer.html] +synonym: "ear cancer" EXACT [] +synonym: "ear neoplasm" EXACT [CSP2005:2018-3094] +synonym: "neoplasm of ear (disorder)" EXACT [SNOMEDCT_2005_07_31:363228008] +synonym: "tumor of ear" EXACT [NCI2004_11_17:C3000] +xref: MSH:D004428 +xref: NCI:C3000 +xref: SNOMEDCT_US_2015_03_01:363228008 +xref: UMLS_CUI:C0013449 +is_a: DOID:0060116 ! sensory system cancer + +[Term] +id: DOID:8331 +name: perineural angioma +xref: NCI:C6526 +xref: UMLS_CUI:C1335382 +is_a: DOID:469 ! deep angioma + +[Term] +id: DOID:8334 +name: testicular intratubular germ cell neoplasia with extratubular extension +is_obsolete: true + +[Term] +id: DOID:8335 +name: microglandular adenosis of breast +synonym: "Microglandular Adenosis of the breast" EXACT [NCI2004_11_17:C5199] +xref: NCI:C5199 +xref: UMLS_CUI:C1334753 +is_a: DOID:5998 ! microglandular adenosis + +[Term] +id: DOID:8336 +name: childhood choriocarcinoma of the ovary +synonym: "pediatric Choriocarcinoma of Ovary" EXACT [NCI2004_11_17:C6549] +xref: NCI:C6549 +xref: UMLS_CUI:C1332987 +is_a: DOID:5550 ! choriocarcinoma of ovary + +[Term] +id: DOID:8337 +name: appendicitis +alt_id: DOID:10275 +alt_id: DOID:10276 +alt_id: DOID:10947 +def: "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/, url:http\://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018] +synonym: "acute appendicitis" EXACT [] +synonym: "acute appendicitis with generalized peritonitis" EXACT [] +synonym: "acute appendicitis with generalized peritonitis (disorder)" EXACT [SNOMEDCT_2005_07_31:28845006] +synonym: "acute appendicitis with peritoneal abscess" EXACT [] +synonym: "acute appendicitis with peritoneal abscess (disorder)" EXACT [SNOMEDCT_2005_07_31:51036000] +xref: ICD10CM:K37 +xref: ICD9CM:540-543.99 +xref: ICD9CM:541 +xref: MSH:D001064 +xref: SNOMEDCT_US_2015_03_01:155728006 +xref: SNOMEDCT_US_2015_03_01:155729003 +xref: SNOMEDCT_US_2015_03_01:155733005 +xref: SNOMEDCT_US_2015_03_01:155736002 +xref: SNOMEDCT_US_2015_03_01:196785005 +xref: SNOMEDCT_US_2015_03_01:307530000 +xref: SNOMEDCT_US_2015_03_01:74400008 +xref: UMLS_CUI:C0003615 +is_a: DOID:1518 ! cecal disease + +[Term] +id: DOID:8338 +name: villoglandular variant cervical mucinous adenocarcinoma +xref: NCI:C40208 +xref: UMLS_CUI:C1516425 +is_a: DOID:3701 ! cervical mucinous adenocarcinoma + +[Term] +id: DOID:8339 +name: intestinal variant cervical mucinous adenocarcinoma +xref: NCI:C40203 +xref: UMLS_CUI:C1516422 +is_a: DOID:3701 ! cervical mucinous adenocarcinoma + +[Term] +id: DOID:8340 +name: endocervical type cervical mucinous adenocarcinoma +xref: NCI:C40202 +xref: UMLS_CUI:C1516421 +is_a: DOID:3701 ! cervical mucinous adenocarcinoma + +[Term] +id: DOID:8344 +name: type 1b ALPS +is_obsolete: true + +[Term] +id: DOID:8345 +name: type 2 ALPS +is_obsolete: true + +[Term] +id: DOID:8348 +name: localized PNET of bone +synonym: "localized Neuroepithelioma of bone" EXACT [NCI2004_11_17:C27353] +is_obsolete: true + +[Term] +id: DOID:8349 +name: metastatic peripheral neuroepithelioma of bone +is_obsolete: true + +[Term] +id: DOID:8352 +name: aortic malignant tumor +synonym: "aortic malignant neoplasm" EXACT [] +xref: NCI:C5375 +xref: UMLS_CUI:C1334560 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:8353 +name: epithelioid malignant peripheral nerve sheath tumor +synonym: "epithelioid MPNST" EXACT [SNOMEDCT_2005_07_31:19897006] +synonym: "malignant epithelioid neoplasm of the peripheral nerve Sheath" EXACT [NCI2004_11_17:C6561] +xref: NCI:C6561 +xref: SNOMEDCT_US_2015_03_01:19897006 +xref: SNOMEDCT_US_2015_03_01:253093000 +xref: SNOMEDCT_US_2015_03_01:404038007 +xref: UMLS_CUI:C1321427 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:8354 +name: complement component 3 deficiency +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "C3 deficiency" EXACT [] +xref: NCI:C9468 +xref: OMIM:613779 +xref: ORDO:280133 +xref: UMLS_CUI:C1332655 +is_a: DOID:626 ! complement deficiency + +[Term] +id: DOID:8358 +name: pseudoglandular variant testicular seminoma +xref: NCI:C40958 +xref: UMLS_CUI:C1515293 +is_a: DOID:5842 ! testis seminoma + +[Term] +id: DOID:8361 +name: glassy cell variant cervical adenosquamous carcinoma +def: "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm." [url:http\://www.ncbi.nlm.nih.gov/pubmed/14749637, url:http\://www.ncbi.nlm.nih.gov/pubmed/15318016, url`:http\://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix] +xref: NCI:C40212 +xref: UMLS_CUI:C1516407 +is_a: DOID:5636 ! cervical adenosquamous carcinoma + +[Term] +id: DOID:8362 +name: enteric pattern testicular yolk sac tumor +xref: NCI:C39932 +xref: UMLS_CUI:C1515304 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:8365 +name: inferior vena cava malignant neoplasm +synonym: "malignant tumor of Inferior Vena Cava" EXACT [NCI2004_11_17:C5377] +is_obsolete: true + +[Term] +id: DOID:8366 +name: esophageal adenocarcinoma recurrent +synonym: "relapsed adenocarcinoma of the esophagus" EXACT [NCI2004_11_17:C8627] +is_obsolete: true + +[Term] +id: DOID:8368 +name: chordoid meningioma +synonym: "Chordoid meningioma" EXACT [NCI2004_11_17:C6908] +synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:399709001] +xref: NCI:C6908 +xref: SNOMEDCT_US_2015_03_01:399709001 +xref: SNOMEDCT_US_2015_03_01:57606003 +xref: UMLS_CUI:C1370510 +is_a: DOID:4210 ! clear cell meningioma + +[Term] +id: DOID:8369 +name: adult malignant schwannoma +synonym: "adult MPNST" EXACT [NCI2004_11_17:C7814] +xref: NCI:C7814 +xref: UMLS_CUI:C0278622 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:8376 +name: mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis +synonym: "mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis" EXACT [NCI2004_11_17:C9172] +is_obsolete: true + +[Term] +id: DOID:8381 +name: ectopic calcitonin production +synonym: "Ectopic calcitonin production (finding)" EXACT [SNOMEDCT_2005_07_31:95836003] +synonym: "Ectopic Calcitonin Secretion" EXACT [NCI2004_11_17:C8443] +is_obsolete: true + +[Term] +id: DOID:8382 +name: recurrent endometrial cancer +synonym: "relapsed carcinoma of Endometrium" EXACT [NCI2004_11_17:C9072] +is_obsolete: true + +[Term] +id: DOID:8386 +name: ectopic chorionic gonadotropin secretion disease +is_obsolete: true + +[Term] +id: DOID:8387 +name: metastatic non-cutaneous melanoma +is_obsolete: true + +[Term] +id: DOID:8388 +name: mixed embryonal carcinoma and seminoma of the testis +synonym: "mixed Embryonal carcinoma and Seminoma of testis" EXACT [NCI2004_11_17:C6350] +is_obsolete: true + +[Term] +id: DOID:8389 +name: lumbar plexus neoplasm +synonym: "tumor of Lumbar Plexus" EXACT [NCI2004_11_17:C5824] +xref: NCI:C5824 +xref: UMLS_CUI:C1334437 +is_a: DOID:4693 ! nerve plexus neoplasm + +[Term] +id: DOID:8390 +name: mixed choriocarcinoma and seminoma of the testis +synonym: "mixed Choriocarcinoma and Seminoma of testis" EXACT [NCI2004_11_17:C9173] +is_obsolete: true + +[Term] +id: DOID:8392 +name: reticular pattern testicular yolk sac tumor +xref: NCI:C39923 +xref: UMLS_CUI:C1515308 +is_a: DOID:5344 ! testicular yolk sac tumor + +[Term] +id: DOID:8394 +name: adult type testicular granulosa cell tumor +xref: NCI:C39946 +xref: UMLS_CUI:C1515284 +is_a: DOID:5331 ! testicular granulosa cell tumor + +[Term] +id: DOID:8398 +name: osteoarthritis +def: "An arthritis that has_material_basis_in worn out cartilage located_in joint." [url:http\://en.wikipedia.org/wiki/Osteoarthritis, url:http\://www.mayoclinic.com/health/osteoarthritis/DS00019, url:http\://www.medicinenet.com/osteoarthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000423.htm] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "degenerative arthritis" EXACT [] +synonym: "degenerative joint disease" EXACT [] +synonym: "hypertrophic arthritis" EXACT [] +synonym: "osteoarthrosis" EXACT [] +synonym: "Osteoarthrosis and allied disorder" EXACT [] +xref: EFO:0002506 +xref: ICD9CM:715.3 +xref: OMIM:140600 +xref: OMIM:165720 +xref: OMIM:607850 +xref: OMIM:610839 +xref: OMIM:612400 +xref: OMIM:612401 +xref: UMLS_CUI:C0157946 +is_a: DOID:848 ! arthritis + +[Term] +id: DOID:8399 +name: trombiculiasis +def: "A mite infestation that involves rash caused by Leptotrombidium deliense." [url:http\://en.wikipedia.org/wiki/Trombiculosis] +xref: MSH:D014323 +xref: UMLS_CUI:C0041170 +is_a: DOID:7894 ! mite infestation + +[Term] +id: DOID:84 +name: osteochondritis dissecans +alt_id: DOID:87 +def: "An ischemic bone disease that results_in necrosis located_in epiphysis." [url:http\://en.wikipedia.org/wiki/Osteochondritis_dissecans, url:http\://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741, url:http\://www.medicinenet.com/osteochondritis_dissecans/article.htm] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "OCD" EXACT [CSP2005:2483-7050] +xref: ICD10CM:M93.2 +xref: ICD10CM:M93.9 +xref: ICD9CM:732.7 +xref: MSH:D010007 +xref: MSH:D010008 +xref: NCI:C34877 +xref: NCI:C34878 +xref: OMIM:165800 +xref: SNOMEDCT_US_2015_03_01:156821002 +xref: SNOMEDCT_US_2015_03_01:156822009 +xref: SNOMEDCT_US_2015_03_01:203424002 +xref: SNOMEDCT_US_2015_03_01:203425001 +xref: SNOMEDCT_US_2015_03_01:268027006 +xref: SNOMEDCT_US_2015_03_01:268125000 +xref: SNOMEDCT_US_2015_03_01:70736000 +xref: SNOMEDCT_US_2015_03_01:82562007 +xref: UMLS_CUI:C0029420 +xref: UMLS_CUI:C0029421 +is_a: DOID:0080008 ! ischemic bone disease + +[Term] +id: DOID:840 +name: cork-handlers' disease +def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." [url:http\://chestjournal.chestpubs.org/content/124/3/1145.full.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf] +synonym: "cork-handlers' disease or lung " EXACT [] +synonym: "cork-handlers' lung" EXACT [] +synonym: "Suberosis" EXACT [ICD9CM_2006:495.3] +synonym: "Suberosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13394002] +xref: ICD10CM:J67.3 +xref: ICD9CM:495.3 +xref: SNOMEDCT_US_2015_03_01:13394002 +xref: UMLS_CUI:C0152108 +is_a: DOID:841 ! extrinsic allergic alveolitis + +[Term] +id: DOID:8400 +name: malignant cornea melanoma +synonym: "malignant Corneal melanoma" EXACT [NCI2004_11_17:C4553] +synonym: "malignant melanoma of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:255009006] +xref: NCI:C4553 +xref: SNOMEDCT_US_2015_03_01:255009006 +xref: UMLS_CUI:C0346367 +is_a: DOID:6199 ! cornea cancer + +[Term] +id: DOID:8401 +name: malignant hemangiopericytoma nonmetastatic +synonym: "Non-metastatic malignant hemangiopericytoma" EXACT [NCI2004_11_17:C8710] +is_obsolete: true + +[Term] +id: DOID:8408 +name: Meckel's diverticulitis +def: "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth." [PMID:17021300, PMID:17579156, url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis] +synonym: "Meckel diverticulitis" EXACT [] +synonym: "Meckel's diverticulitis (disorder)" EXACT [SNOMEDCT_2005_07_31:48241004] +xref: NCI:C27300 +xref: SNOMEDCT_US_2015_03_01:48241004 +xref: UMLS_CUI:C0267497 +is_a: DOID:7475 ! diverticulitis + +[Term] +id: DOID:8409 +name: microinvasive cervical squamous cell carcinoma +xref: NCI:C36094 +xref: UMLS_CUI:C1333370 +is_a: DOID:3744 ! cervical squamous cell carcinoma + +[Term] +id: DOID:841 +name: extrinsic allergic alveolitis +alt_id: DOID:2707 +def: "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss." [url:http\://www.merck.com/mmhe/sec04/ch051/ch051b.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000109.htm] +synonym: "alveolitis" EXACT [] +synonym: "hypersensitivity pneumonitis " EXACT [] +xref: ICD10CM:J67.9 +xref: ICD9CM:495 +xref: ICD9CM:495.9 +xref: MSH:D000542 +xref: NCI:C34369 +xref: SNOMEDCT_US_2015_03_01:155581001 +xref: SNOMEDCT_US_2015_03_01:195993008 +xref: SNOMEDCT_US_2015_03_01:195994002 +xref: SNOMEDCT_US_2015_03_01:266399001 +xref: SNOMEDCT_US_2015_03_01:37471005 +xref: UMLS_CUI:C0002390 +is_a: DOID:3082 ! interstitial lung disease + +[Term] +id: DOID:8410 +name: childhood kidney angiomyolipoma +synonym: "pediatric renal Angiomyolipoma" EXACT [NCI2004_11_17:C6565] +xref: NCI:C6565 +xref: UMLS_CUI:C1333000 +is_a: DOID:8411 ! kidney angiomyolipoma + +[Term] +id: DOID:8411 +name: kidney angiomyolipoma +synonym: "Angiomyolipoma of kidney (disorder)" EXACT [SNOMEDCT_2005_07_31:254921004] +synonym: "renal Angiomyolipoma" EXACT [NCI2004_11_17:C3888] +xref: NCI:C3888 +xref: SNOMEDCT_US_2015_03_01:254921004 +xref: UMLS_CUI:C0241961 +is_a: DOID:3116 ! kidney benign neoplasm + +[Term] +id: DOID:8413 +name: recurrent extraskeletal osteosarcoma +synonym: "relapsed extraskeletal Osteosarcoma" EXACT [NCI2004_11_17:C8811] +is_obsolete: true + +[Term] +id: DOID:8415 +name: carcinoma arising in nasal papillomatosis +xref: NCI:C27389 +xref: UMLS_CUI:C1332840 +is_a: DOID:4931 ! nasal cavity carcinoma + +[Term] +id: DOID:8418 +name: congenital fibrosarcoma +synonym: "Infantile fibrosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:403996004] +synonym: "Infantile fibrosarcoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:52040006] +xref: NCI:C4244 +xref: SNOMEDCT_US_2015_03_01:403996004 +xref: SNOMEDCT_US_2015_03_01:52040006 +xref: UMLS_CUI:C0334459 +is_a: DOID:3520 ! pediatric fibrosarcoma + +[Term] +id: DOID:8419 +name: colloid adenoma +synonym: "Macrofollicular adenoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:26545006] +xref: NCI:C4161 +xref: SNOMEDCT_US_2015_03_01:26545006 +xref: UMLS_CUI:C0334329 +is_a: DOID:6204 ! follicular adenoma + +[Term] +id: DOID:8420 +name: malignant glandular tumor of peripheral nerve sheath +synonym: "glandular MPNST" EXACT [NCI2004_11_17:C6560] +xref: NCI:C6560 +xref: SNOMEDCT_US_2015_03_01:699658004 +xref: SNOMEDCT_US_2015_03_01:699659007 +xref: UMLS_CUI:C1333821 +is_a: DOID:5940 ! malignant peripheral nerve sheath tumor + +[Term] +id: DOID:8426 +name: follicular infundibulum tumor +synonym: "neoplasm of the Follicular Infundibulum" EXACT [NCI2004_11_17:C4469] +synonym: "tumor of follicular infundibulum (disorder)" EXACT [SNOMEDCT_2005_07_31:254694002] +xref: NCI:C4469 +xref: SNOMEDCT_US_2015_03_01:254694002 +xref: UMLS_CUI:C0346006 +is_a: DOID:5375 ! hair follicle neoplasm + +[Term] +id: DOID:8427 +name: retinal melanoma +synonym: "malignant Retinal melanoma" EXACT [NCI2004_11_17:C8601] +xref: NCI:C8601 +xref: SNOMEDCT_US_2015_03_01:423673009 +xref: UMLS_CUI:C0853394 +is_a: DOID:4645 ! retinal cancer + +[Term] +id: DOID:8428 +name: breast apocrine carcinoma in situ +synonym: "Apocrine carcinoma in situ of the breast" EXACT [NCI2004_11_17:C5140] +xref: NCI:C5140 +xref: UMLS_CUI:C1332315 +is_a: DOID:8791 ! breast carcinoma in situ + +[Term] +id: DOID:8429 +name: testicular seminoma with syncytiotrophoblastic cells +is_obsolete: true + +[Term] +id: DOID:8431 +name: physiological polycythemia +xref: NCI:C27311 +xref: UMLS_CUI:C0856817 +is_a: DOID:8432 ! polycythemia + +[Term] +id: DOID:8432 +name: polycythemia +synonym: "Erythrocythemia" EXACT [SNOMEDCT_2005_07_31:165401000] +xref: ICD10CM:D75.1 +xref: MSH:D011086 +xref: NCI:C26863 +xref: SNOMEDCT_US_2015_03_01:109992005 +xref: SNOMEDCT_US_2015_03_01:127062003 +xref: SNOMEDCT_US_2015_03_01:165401000 +xref: SNOMEDCT_US_2015_03_01:44865000 +xref: UMLS_CUI:C0032461 +is_a: DOID:4961 ! bone marrow disease + +[Term] +id: DOID:8433 +name: thyroid malformation +xref: NCI:C27331 +xref: UMLS_CUI:C0877367 +is_a: DOID:50 ! thyroid gland disease + +[Term] +id: DOID:8435 +name: Drug dependence complicating pregnancy, childbirth, or the puerperium +alt_id: DOID:10227 +alt_id: DOID:13136 +alt_id: DOID:8434 +synonym: "drug dependence of mother with delivery" EXACT [] +synonym: "Drug dependence, antepartum" EXACT [] +synonym: "postpartum drug dependence" EXACT [] +synonym: "Pregnancy and drug dependence" EXACT [SNOMEDCT_2005_07_31:199250005] +synonym: "Pregnancy and drug dependence (disorder)" EXACT [SNOMEDCT_2005_07_31:237228001] +is_obsolete: true + +[Term] +id: DOID:8437 +name: intestinal obstruction +xref: ICD10CM:K56.60 +xref: ICD10CM:K56.69 +xref: ICD9CM:560.9 +xref: MSH:D007415 +xref: NCI:C9175 +xref: SNOMEDCT_US_2015_03_01:155771002 +xref: SNOMEDCT_US_2015_03_01:155777003 +xref: SNOMEDCT_US_2015_03_01:197072007 +xref: SNOMEDCT_US_2015_03_01:197073002 +xref: SNOMEDCT_US_2015_03_01:197074008 +xref: SNOMEDCT_US_2015_03_01:197080000 +xref: SNOMEDCT_US_2015_03_01:266523009 +xref: SNOMEDCT_US_2015_03_01:81060008 +xref: UMLS_CUI:C0021843 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:8438 +name: afferent loop syndrome +synonym: "Afferent loop syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:20813000] +xref: MSH:D000343 +xref: SNOMEDCT_US_2015_03_01:20813000 +xref: UMLS_CUI:C0001727 +is_a: DOID:8439 ! postgastrectomy syndrome + +[Term] +id: DOID:8439 +name: postgastrectomy syndrome +synonym: "Postgastric surgery syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:80193009] +xref: ICD10CM:K91.1 +xref: ICD9CM:564.2 +xref: MSH:D011178 +xref: SNOMEDCT_US_2015_03_01:155785007 +xref: SNOMEDCT_US_2015_03_01:197126006 +xref: SNOMEDCT_US_2015_03_01:197128007 +xref: SNOMEDCT_US_2015_03_01:197129004 +xref: SNOMEDCT_US_2015_03_01:266527005 +xref: SNOMEDCT_US_2015_03_01:80193009 +xref: UMLS_CUI:C0032763 +is_a: DOID:1159 ! functional gastric disease +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:844 +name: chronic depressive disorder +synonym: "chronic depression (disorder)" EXACT [SNOMEDCT_2005_07_31:192080009] +synonym: "chronic depressive personality disorder" EXACT [ICD9CM_2006:301.12] +is_obsolete: true + +[Term] +id: DOID:8440 +name: ileus +synonym: "Ileus of intestine" EXACT [MTHICD9_2006:560.1] +xref: MSH:D045823 +xref: NCI:C37979 +xref: SNOMEDCT_US_2015_03_01:278524008 +xref: SNOMEDCT_US_2015_03_01:81060008 +xref: UMLS_CUI:C1258215 +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:8442 +name: paralytic ileus +synonym: "Paralysis of intestine or colon" EXACT [MTHICD9_2006:560.1] +synonym: "Paralytic ileus" EXACT [SNOMEDCT_2005_07_31:155773004] +synonym: "Paralytic ileus" EXACT [ICD9CM_2006:560.1] +synonym: "Paralytic ileus (disorder)" EXACT [SNOMEDCT_2005_07_31:55525008] +xref: ICD10CM:K56.0 +xref: ICD9CM:560.1 +xref: MSH:D007418 +xref: NCI:C93045 +xref: SNOMEDCT_US_2015_03_01:155773004 +xref: SNOMEDCT_US_2015_03_01:55525008 +xref: UMLS_CUI:C0030446 +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:8443 +name: brachial plexus lesion +def: "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus." [url:http\://en.wikipedia.org/wiki/Brachial_plexus_injury, url:http\://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html] +synonym: "Brachial plexus lesions" EXACT [ICD9CM_2006:353.0] +synonym: "Brachial plexus lesions NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193109004] +xref: ICD9CM:353.0 +xref: SNOMEDCT_US_2015_03_01:193109004 +xref: SNOMEDCT_US_2015_03_01:3548001 +xref: UMLS_CUI:C0006091 +is_a: DOID:3690 ! brachial plexus neuropathy + +[Term] +id: DOID:8444 +name: nerve root and plexus disorder +is_obsolete: true + +[Term] +id: DOID:8445 +name: intestinal volvulus +synonym: "intestinal volvulus (disorder)" EXACT [SNOMEDCT_2005_07_31:9707006] +synonym: "Twist of intestine, bowel, or colon" EXACT [MTHICD9_2006:560.2] +synonym: "Volvulus" EXACT [SNOMEDCT_2005_07_31:155774005] +synonym: "Volvulus" EXACT [ICD9CM_2006:560.2] +synonym: "Volvulus (& [torsion of bowel])" EXACT [SNOMEDCT_2005_07_31:197057008] +synonym: "Volvulus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197061002] +xref: ICD10CM:K56.2 +xref: ICD9CM:560.2 +xref: MSH:D045822 +xref: NCI:C98963 +xref: SNOMEDCT_US_2015_03_01:155774005 +xref: SNOMEDCT_US_2015_03_01:197057008 +xref: SNOMEDCT_US_2015_03_01:197061002 +xref: SNOMEDCT_US_2015_03_01:90738007 +xref: SNOMEDCT_US_2015_03_01:9707006 +xref: UMLS_CUI:C0042961 +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:8446 +name: intussusception +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Intussusception (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35327006] +synonym: "Intussusception NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:197055000] +synonym: "Intussusception of intestine (disorder)" EXACT [SNOMEDCT_2005_07_31:49723003] +synonym: "Invagination of intestine or colon" EXACT [MTHICD9_2006:560.0] +xref: ICD10CM:K56.1 +xref: ICD9CM:560.0 +xref: MSH:D007443 +xref: NCI:C113484 +xref: OMIM:147710 +xref: SNOMEDCT_US_2015_03_01:155772009 +xref: SNOMEDCT_US_2015_03_01:197055000 +xref: SNOMEDCT_US_2015_03_01:35327006 +xref: SNOMEDCT_US_2015_03_01:49723003 +xref: UMLS_CUI:C0021933 +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:8448 +name: intestinal impaction +xref: ICD10CM:K56.4 +xref: ICD10CM:K56.49 +xref: ICD9CM:560.39 +xref: SNOMEDCT_US_2015_03_01:197540000 +xref: UMLS_CUI:C0029640 +is_a: DOID:8437 ! intestinal obstruction + +[Term] +id: DOID:8449 +name: vitamin B deficiency +is_obsolete: true + +[Term] +id: DOID:845 +name: cyclothymic disorder +def: "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes." [url:http\://en.wikipedia.org/wiki/Mood_disorder] +synonym: "Affective personality disorder" EXACT [ICD9CM_2006:301.1] +synonym: "Cycloid personality" EXACT [MTHICD9_2006:301.13] +synonym: "Cyclothymia" EXACT [SNOMEDCT_2005_07_31:192383002] +synonym: "Cyclothymic personality" EXACT [SNOMEDCT_2005_07_31:268756002] +xref: ICD10CM:F34.0 +xref: ICD9CM:301.1 +xref: ICD9CM:301.10 +xref: ICD9CM:301.13 +xref: MSH:D003527 +xref: SNOMEDCT_US_2015_03_01:14697007 +xref: SNOMEDCT_US_2015_03_01:191751008 +xref: SNOMEDCT_US_2015_03_01:191752001 +xref: SNOMEDCT_US_2015_03_01:191754000 +xref: SNOMEDCT_US_2015_03_01:191755004 +xref: SNOMEDCT_US_2015_03_01:192383002 +xref: SNOMEDCT_US_2015_03_01:268756002 +xref: SNOMEDCT_US_2015_03_01:286737005 +xref: SNOMEDCT_US_2015_03_01:386798001 +xref: SNOMEDCT_US_2015_03_01:76105009 +xref: UMLS_CUI:C0010598 +is_a: DOID:3312 ! bipolar disorder + +[Term] +id: DOID:8451 +name: vitamin deficiency +alt_id: DOID:8450 +synonym: "avitaminosis" EXACT [] +synonym: "Avitaminosis, NOS" EXACT [SNOMEDCT_2005_07_31:85670002] +is_obsolete: true + +[Term] +id: DOID:8452 +name: malnutrition +is_obsolete: true + +[Term] +id: DOID:8453 +name: folic acid deficiency +synonym: "deficiency of folic acid (disorder)" EXACT [SNOMEDCT_2005_07_31:124913008] +synonym: "folate deficiency" EXACT [CSP2005:2116-7287] +synonym: "Folic acid deficiency" EXACT [MTHICD9_2006:266.2] +synonym: "Folic acid deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:190633005] +is_obsolete: true + +[Term] +id: DOID:8454 +name: ariboflavinosis +synonym: "vitamin B2 deficiency" EXACT [MTHICD9_2006:266.0] +xref: ICD10CM:E53.0 +xref: ICD9CM:266.0 +xref: MSH:D012257 +xref: SNOMEDCT_US_2015_03_01:154726004 +xref: SNOMEDCT_US_2015_03_01:20307000 +xref: SNOMEDCT_US_2015_03_01:267492001 +xref: UMLS_CUI:C0035528 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:8455 +name: pyridoxine deficiency anemia +synonym: "vitamin B6 deficiency syndrome" EXACT [MTHICD9_2006:266.1] +xref: ICD10CM:E53.1 +xref: ICD9CM:266.1 +xref: MSH:D026681 +xref: NCI:C85221 +xref: SNOMEDCT_US_2015_03_01:18881008 +xref: SNOMEDCT_US_2015_03_01:386080007 +xref: UMLS_CUI:C0936215 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:8456 +name: choline deficiency disease +synonym: "choline deficiency" EXACT [CSP2005:2116-7256] +synonym: "Choline deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:238113006] +xref: MSH:D002796 +xref: SNOMEDCT_US_2015_03_01:238113006 +xref: UMLS_CUI:C0008412 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:8457 +name: pellagra +synonym: "Niacin deficiency" EXACT [SNOMEDCT_2005_07_31:238127001] +synonym: "Niacin-tryptophan deficiency" EXACT [MTHICD9_2006:265.2] +synonym: "Pellagra (disorder)" EXACT [SNOMEDCT_2005_07_31:56550003] +xref: ICD10CM:E52 +xref: ICD9CM:265.2 +xref: MSH:D010383 +xref: SNOMEDCT_US_2015_03_01:154725000 +xref: SNOMEDCT_US_2015_03_01:238127001 +xref: SNOMEDCT_US_2015_03_01:267491008 +xref: SNOMEDCT_US_2015_03_01:418186002 +xref: SNOMEDCT_US_2015_03_01:418279001 +xref: SNOMEDCT_US_2015_03_01:56550003 +xref: UMLS_CUI:C0030783 +is_a: DOID:5113 ! nutritional deficiency disease + +[Term] +id: DOID:8458 +name: Thiamine and niacin deficiency state +is_obsolete: true + +[Term] +id: DOID:8459 +name: vitamin B 12 deficiency +synonym: "Cobalamin deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:190634004] +synonym: "deficiency of vitamin B>12< (disorder)" EXACT [SNOMEDCT_2005_07_31:124904006] +synonym: "vitamin B 12 deficiency" EXACT [MTH:792] +synonym: "vitamin B12 deficiency" EXACT [MTHICD9_2006:266.2] +synonym: "vitamin B12 deficiency" EXACT [CSP2005:2116-7456] +is_obsolete: true + +[Term] +id: DOID:846 +name: arthropathy associated with hematological disorder +is_obsolete: true + +[Term] +id: DOID:8461 +name: Aicardi syndrome +def: "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye." [url:http\://en.wikipedia.org/wiki/Aicardi_syndrome, url:http\://ghr.nlm.nih.gov/condition/aicardi-syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D058540 +xref: NCI:C35256 +xref: OMIM:304050 +xref: ORDO:50 +xref: SNOMEDCT_US_2015_03_01:80651009 +xref: UMLS_CUI:C0175713 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:8463 +name: corneal ulcer +xref: ICD10CM:H16.0 +xref: ICD10CM:H16.00 +xref: ICD9CM:370.0 +xref: ICD9CM:370.00 +xref: MSH:D003320 +xref: NCI:C50515 +xref: SNOMEDCT_US_2015_03_01:155152009 +xref: SNOMEDCT_US_2015_03_01:193758008 +xref: SNOMEDCT_US_2015_03_01:193759000 +xref: SNOMEDCT_US_2015_03_01:193763007 +xref: SNOMEDCT_US_2015_03_01:91514001 +xref: UMLS_CUI:C0010043 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:8464 +name: flat retinoschisis +synonym: "Flat retinoschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:83405000] +xref: ICD9CM:361.11 +xref: SNOMEDCT_US_2015_03_01:193332006 +xref: SNOMEDCT_US_2015_03_01:83405000 +xref: UMLS_CUI:C0154817 +is_a: DOID:8465 ! retinoschisis + +[Term] +id: DOID:8465 +name: retinoschisis +synonym: "Retinoschisis (disorder)" EXACT [SNOMEDCT_2005_07_31:44268007] +synonym: "Retinoschisis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:193330003] +synonym: "Retinoschisis, unspecified" EXACT [ICD9CM_2006:361.10] +xref: ICD10CM:H33.10 +xref: ICD9CM:361.10 +xref: MSH:D041441 +xref: NCI:C85046 +xref: SNOMEDCT_US_2015_03_01:193330003 +xref: SNOMEDCT_US_2015_03_01:389992006 +xref: SNOMEDCT_US_2015_03_01:44268007 +xref: UMLS_CUI:C0152439 +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:8466 +name: retinal degeneration +synonym: "degeneration of retina (disorder)" EXACT [SNOMEDCT_2005_07_31:95695004] +synonym: "RETINA degeneration" EXACT [MTH:649] +synonym: "retina degeneration" EXACT [CSP2005:1114-9354] +xref: MSH:D012162 +xref: NCI:C34979 +xref: SNOMEDCT_US_2015_03_01:95695004 +xref: UMLS_CUI:C0035304 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:8467 +name: Retinoschisis and retinal cysts +is_obsolete: true + +[Term] +id: DOID:8469 +name: influenza +alt_id: DOID:8468 +def: "A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." [url:http\://www.merck.com/mmhe/sec17/ch198/ch198d.html, url:http\://www.who.int/mediacentre/factsheets/2003/fs211/en/] +synonym: "flu" EXACT [] +synonym: "influenza with non-respiratory manifestation" EXACT [] +synonym: "Influenza with non-respiratory manifestation (disorder)" EXACT [SNOMEDCT_2005_07_31:61700007] +synonym: "Influenza with other manifestations" EXACT [ICD9CM_2006:487.8] +synonym: "Influenza with other manifestations (disorder)" EXACT [SNOMEDCT_2005_07_31:195927002] +synonym: "Influenza with other manifestations NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195930009] +xref: ICD10CM:J11.1 +xref: ICD9CM:487 +xref: MSH:D007251 +xref: NCI:C53482 +xref: SNOMEDCT_US_2015_03_01:155559006 +xref: SNOMEDCT_US_2015_03_01:155562009 +xref: SNOMEDCT_US_2015_03_01:195931008 +xref: SNOMEDCT_US_2015_03_01:266353003 +xref: SNOMEDCT_US_2015_03_01:266393000 +xref: SNOMEDCT_US_2015_03_01:6142004 +xref: UMLS_CUI:C0021400 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8472 +name: localized scleroderma +synonym: "Circumscribed scleroderma" EXACT [ICD9CM_2006:701.0] +synonym: "Circumscribed scleroderma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201052007] +synonym: "localised morphoea" EXACT [SNOMEDCT_2005_07_31:201046006] +synonym: "localized morphea (disorder)" EXACT [SNOMEDCT_2005_07_31:201048007] +synonym: "localized scleroderma (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:90424004] +synonym: "Morphea" EXACT [SNOMEDCT_2005_07_31:156452007] +synonym: "Scleroderma, circumscribed or localized" EXACT [MTHICD9_2006:701.0] +synonym: "Unspecified circumscribed scleroderma (disorder)" EXACT [SNOMEDCT_2005_07_31:201047002] +xref: ICD10CM:L94.0 +xref: ICD9CM:701.0 +xref: MSH:D012594 +xref: NCI:C72069 +xref: SNOMEDCT_US_2015_03_01:201046006 +xref: SNOMEDCT_US_2015_03_01:201047002 +xref: SNOMEDCT_US_2015_03_01:201048007 +xref: SNOMEDCT_US_2015_03_01:201052007 +xref: SNOMEDCT_US_2015_03_01:90424004 +xref: UMLS_CUI:C0036420 +is_a: DOID:419 ! scleroderma + +[Term] +id: DOID:8476 +name: Whipple disease +subset: gram-positive_bacterial_infectious_disease +synonym: "intestinal lipodystrophy" EXACT [MTHICD9_2006:040.2] +synonym: "Whipple's disease" EXACT [CSP2005:1745-6360] +synonym: "Whipple's disease" EXACT [ICD9CM_2006:040.2] +synonym: "Whipple's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:41545003] +xref: ICD10CM:K90.81 +xref: ICD9CM:040.2 +xref: MSH:D008061 +xref: NCI:C85228 +xref: SNOMEDCT_US_2015_03_01:41545003 +xref: UMLS_CUI:C0023788 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:8477 +name: malabsorption syndrome +is_obsolete: true + +[Term] +id: DOID:8478 +name: actinomycosis +alt_id: DOID:0050000 +alt_id: DOID:13079 +def: "A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." [url:http\://accessmedicine.com/resourceTOC.aspx?resourceID=4, url:http\://emedicine.medscape.com/article/211587-overview, url:http\://en.wikipedia.org/wiki/Actinomycosis] +subset: gram-positive_bacterial_infectious_disease +synonym: "actinomycetoma" RELATED [] +synonym: "actinomycotic infection" EXACT [] +synonym: "Actinomycotic madura foot (disorder)" EXACT [SNOMEDCT_2005_07_31:82684004] +synonym: "Actinomycotic mycetema" EXACT [SNOMEDCT_2005_07_31:187089001] +synonym: "Actinomycotic mycetoma of foot" EXACT [SNOMEDCT_2005_07_31:186397005] +synonym: "boil" RELATED [] +synonym: "Madura foot due to Actinomadura (disorder)" EXACT [SNOMEDCT_2005_07_31:37431000] +xref: ICD10CM:A42 +xref: ICD10CM:A42.9 +xref: ICD9CM:039 +xref: ICD9CM:039.9 +xref: MSH:D000196 +xref: NCI:C34350 +xref: SNOMEDCT_US_2015_03_01:11817007 +xref: SNOMEDCT_US_2015_03_01:154314007 +xref: SNOMEDCT_US_2015_03_01:186402009 +xref: SNOMEDCT_US_2015_03_01:186405006 +xref: SNOMEDCT_US_2015_03_01:187335006 +xref: SNOMEDCT_US_2015_03_01:238416009 +xref: SNOMEDCT_US_2015_03_01:266185008 +xref: SNOMEDCT_US_2015_03_01:50508009 +xref: UMLS_CUI:C0001261 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:848 +name: arthritis +def: "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint." [ls:IEDB, url:http\://arthritis.webmd.com/, url:http\://en.wikipedia.org/wiki/Arthritis, url:http\://www.arthritis.org/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001243.htm] +synonym: "arthritis" RELATED [CSP2005:2715-1134] +synonym: "Inflammatory disorder of joint" EXACT [SNOMEDCT_2005_07_31:363178003] +xref: ICD10CM:M19.90 +xref: MSH:D001168 +xref: NCI:C2883 +xref: SNOMEDCT_US_2015_03_01:202059001 +xref: SNOMEDCT_US_2015_03_01:363178003 +xref: SNOMEDCT_US_2015_03_01:372091005 +xref: SNOMEDCT_US_2015_03_01:3723001 +xref: UMLS_CUI:C0003864 +is_a: DOID:3342 ! bone inflammation disease + +[Term] +id: DOID:8481 +name: rheumatic myocarditis +alt_id: DOID:14025 +alt_id: DOID:14036 +subset: gram-positive_bacterial_infectious_disease +synonym: "active rheumatic fever with myocarditis" EXACT [] +synonym: "acute rheumatic carditis" EXACT [] +synonym: "acute Rheumatic Myocarditis" EXACT [NCI2004_11_17:C35202] +synonym: "acute rheumatic myocarditis" EXACT [ICD9CM_2006:391.2, SNOMEDCT_2005_07_31:155269001] +synonym: "acute rheumatic myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:194709000] +synonym: "acute rheumatic myocarditis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:4536006] +synonym: "Rheumatic degeneration of myocardium" EXACT [] +synonym: "Rheumatic fever with myocarditis" EXACT [MTHICD9_2006:391.2] +synonym: "Rheumatic myocarditis" EXACT [ICD9CM_2006:398.0] +synonym: "Rheumatic myocarditis" EXACT [SNOMEDCT_2005_07_31:266285003] +synonym: "Rheumatic myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:194750008] +synonym: "Rheumatoid myocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:195136004] +xref: ICD10CM:I01.9 +xref: ICD10CM:I09.0 +xref: ICD10CM:M05.3 +xref: ICD9CM:391.9 +xref: ICD9CM:398.0 +xref: NCI:C34985 +xref: SNOMEDCT_US_2015_03_01:155270000 +xref: SNOMEDCT_US_2015_03_01:194713007 +xref: SNOMEDCT_US_2015_03_01:194750008 +xref: SNOMEDCT_US_2015_03_01:195136004 +xref: SNOMEDCT_US_2015_03_01:266285003 +xref: SNOMEDCT_US_2015_03_01:312591002 +xref: SNOMEDCT_US_2015_03_01:367538001 +xref: SNOMEDCT_US_2015_03_01:4536006 +xref: SNOMEDCT_US_2015_03_01:8805001 +xref: UMLS_CUI:C0035440 +xref: UMLS_CUI:C0489959 +is_a: DOID:820 ! myocarditis + +[Term] +id: DOID:8482 +name: transient retinal arterial occlusion +synonym: "Retinal transient arterial occlusion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193377008] +synonym: "Transient arterial retinal occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:87224000] +synonym: "Transient retinal arterial occlusion" EXACT [ICD9CM_2006:362.34] +xref: ICD10CM:H34.0 +xref: ICD9CM:362.34 +xref: NCI:C35193 +xref: SNOMEDCT_US_2015_03_01:193377008 +xref: SNOMEDCT_US_2015_03_01:87224000 +xref: UMLS_CUI:C0154840 +is_a: DOID:8483 ! retinal artery occlusion + +[Term] +id: DOID:8483 +name: retinal artery occlusion +synonym: "Retinal artery occlusion (disorder)" EXACT [SNOMEDCT_2005_07_31:232035005] +xref: MSH:D015356 +xref: NCI:C34978 +xref: SNOMEDCT_US_2015_03_01:232035005 +xref: UMLS_CUI:C0035302 +is_a: DOID:1729 ! retinal vascular occlusion + +[Term] +id: DOID:8484 +name: maple bark strippers' lung +def: "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale." [url:http\://nt.ars-grin.gov/fungaldatabases/, url:http\://www.ncbi.nlm.nih.gov/pubmed/2735559] +synonym: "alveolitis due to cryptostroma corticale" EXACT [] +synonym: "maple bark disease" EXACT [] +synonym: "maple bark stripper's disease" EXACT [] +synonym: "maple bark stripper's lung" EXACT [] +synonym: "Maple bark-strippers' lung" EXACT [ICD9CM_2006:495.6] +synonym: "Maple-bark strippers' lung (disorder)" EXACT [SNOMEDCT_2005_07_31:86638007] +xref: ICD10CM:J67.6 +xref: ICD9CM:495.6 +xref: SNOMEDCT_US_2015_03_01:86638007 +xref: UMLS_CUI:C0155890 +is_a: DOID:2473 ! opportunistic mycosis + +[Term] +id: DOID:8485 +name: mucormycosis +alt_id: DOID:0050087 +alt_id: DOID:8486 +def: "An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000649.htm] +synonym: "disseminated mucormycosis" EXACT [] +synonym: "Mucormycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:76627001] +synonym: "Mucormycosis, unspecified" EXACT [SNOMEDCT_2005_07_31:187104007] +synonym: "Mucormycosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187501007] +synonym: "Phycomycosis or Mucormycosis" EXACT [MTHICD9_2006:117.7] +synonym: "zygomycosis" EXACT [] +synonym: "Zygomycosis (disorder)" EXACT [SNOMEDCT_2005_07_31:59277005] +synonym: "Zygomycosis [Phycomycosis or Mucormycosis]" EXACT [ICD9CM_2006:117.7] +synonym: "Zygomycosis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187496006] +is_obsolete: true + +[Term] +id: DOID:8487 +name: secondary retinal cyst +synonym: "secondary retinal cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:56039006] +synonym: "secondary retinal cysts" EXACT [ICD9CM_2006:361.14] +synonym: "secondary retinal cysts (disorder)" EXACT [SNOMEDCT_2005_07_31:193334007] +is_obsolete: true + +[Term] +id: DOID:8488 +name: polyhydramnios +def: "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac." [url:http\://en.wikipedia.org/wiki/Polyhydramnios] +xref: ICD10CM:O40 +xref: ICD9CM:657 +xref: ICD9CM:657.0 +xref: MSH:D006831 +xref: NCI:C92848 +xref: SNOMEDCT_US_2015_03_01:156188008 +xref: SNOMEDCT_US_2015_03_01:157052008 +xref: SNOMEDCT_US_2015_03_01:199644009 +xref: SNOMEDCT_US_2015_03_01:199645005 +xref: SNOMEDCT_US_2015_03_01:199648007 +xref: SNOMEDCT_US_2015_03_01:199650004 +xref: SNOMEDCT_US_2015_03_01:267261001 +xref: SNOMEDCT_US_2015_03_01:86203003 +xref: UMLS_CUI:C0020224 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:8489 +name: disorder of amniotic fluid and membranes +is_obsolete: true + +[Term] +id: DOID:849 +name: rheumatoid lung disease +synonym: "Rheumatoid lung" EXACT [SNOMEDCT_2005_07_31:196132006] +synonym: "Rheumatoid lung" EXACT [SNOMEDCT_2005_07_31:155621007] +synonym: "Rheumatoid lung" EXACT [SNOMEDCT_2005_07_31:111280008] +synonym: "Rheumatoid lung" EXACT [SNOMEDCT_2005_07_31:201813004] +synonym: "Rheumatoid lung" EXACT [SNOMEDCT_2005_07_31:201794001] +synonym: "Rheumatoid lung" EXACT [ICD9CM_2006:714.81] +synonym: "Rheumatoid lung disease (disorder)" EXACT [SNOMEDCT_2005_07_31:398726004] +xref: ICD9CM:714.81 +xref: SNOMEDCT_US_2015_03_01:111280008 +xref: SNOMEDCT_US_2015_03_01:155621007 +xref: SNOMEDCT_US_2015_03_01:196132006 +xref: SNOMEDCT_US_2015_03_01:201794001 +xref: SNOMEDCT_US_2015_03_01:201813004 +xref: SNOMEDCT_US_2015_03_01:398726004 +xref: UMLS_CUI:C0994344 +is_a: DOID:417 ! hypersensitivity reaction type II disease +is_a: DOID:850 ! lung disease + +[Term] +id: DOID:8490 +name: primary hypotonic uterine dysfunction +alt_id: DOID:8496 +alt_id: DOID:8497 +synonym: "antepartum primary uterine inertia" EXACT [] +synonym: "primary uterine inertia - delivered" EXACT [] +synonym: "primary uterine inertia - delivered (disorder)" EXACT [SNOMEDCT_2005_07_31:199819004] +synonym: "primary uterine inertia, with delivery" EXACT [ICD9CM_2006:661.01] +is_obsolete: true + +[Term] +id: DOID:8491 +name: Prolonged first stage of labor +is_obsolete: true + +[Term] +id: DOID:8493 +name: abnormality of forces of labor +is_obsolete: true + +[Term] +id: DOID:8494 +name: dystocia +is_obsolete: true + +[Term] +id: DOID:8495 +name: prolonged labor +is_obsolete: true + +[Term] +id: DOID:8498 +name: hereditary night blindness +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Congenital night blindness" EXACT [ICD9CM_2006:368.61] +synonym: "Congenital night blindness (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:89208008] +synonym: "Congenital night blindness NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193689002] +synonym: "Hereditary night blindness NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193688005] +synonym: "Oguchi's disease" EXACT [MTHICD9_2006:368.61] +synonym: "Oguchi's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:193687000] +xref: ICD10CM:H53.63 +xref: ICD9CM:368.61 +xref: MSH:C537743 +xref: OMIM:258100 +xref: OMIM:613411 +xref: SNOMEDCT_US_2015_03_01:193687000 +xref: SNOMEDCT_US_2015_03_01:193688005 +xref: SNOMEDCT_US_2015_03_01:193689002 +xref: SNOMEDCT_US_2015_03_01:89208008 +xref: UMLS_CUI:C1306122 +is_a: DOID:8499 ! night blindness + +[Term] +id: DOID:8499 +name: night blindness +xref: ICD10CM:H53.6 +xref: ICD10CM:H53.60 +xref: ICD9CM:368.6 +xref: ICD9CM:368.60 +xref: MSH:D009755 +xref: NCI:C34850 +xref: NCI:C37997 +xref: SNOMEDCT_US_2015_03_01:155144006 +xref: SNOMEDCT_US_2015_03_01:193686009 +xref: SNOMEDCT_US_2015_03_01:193693008 +xref: SNOMEDCT_US_2015_03_01:65194006 +xref: SNOMEDCT_US_2015_03_01:75390007 +xref: UMLS_CUI:C0028077 +is_a: DOID:5679 ! retinal disease + +[Term] +id: DOID:850 +name: lung disease +alt_id: DOID:11894 +alt_id: DOID:11895 +alt_id: DOID:29 +alt_id: DOID:766 +def: "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide." [url:http\://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000066.htm] +comment: Updating out dated CUI and removing lung abscess as a synonym. +synonym: "non-neoplastic lung disorder" EXACT [] +synonym: "Non-neoplastic pulmonary disorder" EXACT [NCI2004_11_17:C27557] +xref: ICD10CM:J98.4 +xref: MSH:D008171 +xref: NCI:C3198 +xref: SNOMEDCT_US_2015_03_01:196164004 +xref: SNOMEDCT_US_2015_03_01:19829001 +xref: SNOMEDCT_US_2015_03_01:266374002 +xref: UMLS_CUI:C0024115 +is_a: DOID:0050161 ! lower respiratory tract disease + +[Term] +id: DOID:8500 +name: hereditary retinal dystrophy +xref: ICD10CM:H35.5 +xref: ICD10CM:H35.50 +xref: ICD9CM:362.7 +xref: ICD9CM:362.70 +xref: NCI:C35194 +xref: SNOMEDCT_US_2015_03_01:193399000 +xref: SNOMEDCT_US_2015_03_01:193417000 +xref: SNOMEDCT_US_2015_03_01:267615006 +xref: SNOMEDCT_US_2015_03_01:41799005 +xref: UMLS_CUI:C0154860 +is_a: DOID:8501 ! fundus dystrophy + +[Term] +id: DOID:8501 +name: fundus dystrophy +synonym: "Retinal Dystrophy" EXACT [NCI2004_11_17:C35625] +xref: MSH:D058499 +xref: NCI:C35625 +xref: SNOMEDCT_US_2015_03_01:314407005 +xref: UMLS_CUI:C0854723 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:8502 +name: bullous skin disease +def: "An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." [url:http\://en.wikipedia.org/wiki/Dermatitis_herpetiformis] +xref: ICD9CM:694.8 +xref: SNOMEDCT_US_2015_03_01:200916004 +xref: UMLS_CUI:C0079957 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:8503 +name: impetigo herpetiformis +def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." [url:http\://en.wikipedia.org/wiki/Impetigo_herpetiformis] +subset: gram-positive_bacterial_infectious_disease +synonym: "Impetigo herpetiformis (disorder)" EXACT [SNOMEDCT_2005_07_31:65539006] +xref: ICD10CM:L40.1 +xref: ICD9CM:694.3 +xref: SNOMEDCT_US_2015_03_01:200973000 +xref: SNOMEDCT_US_2015_03_01:65539006 +xref: UMLS_CUI:C1314968 +is_a: DOID:8504 ! impetigo + +[Term] +id: DOID:8504 +name: impetigo +def: "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." [url:http\://gsbs.utmb.edu/microbook/ch098.htm] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:L01 +xref: ICD10CM:L01.0 +xref: ICD10CM:L01.00 +xref: ICD9CM:684 +xref: MSH:D007169 +xref: NCI:C99088 +xref: SNOMEDCT_US_2015_03_01:156319000 +xref: SNOMEDCT_US_2015_03_01:200710001 +xref: SNOMEDCT_US_2015_03_01:267836006 +xref: SNOMEDCT_US_2015_03_01:48277006 +xref: UMLS_CUI:C0021099 +is_a: DOID:4223 ! pyoderma + +[Term] +id: DOID:8505 +name: dermatitis herpetiformis +synonym: "Dermatitis herpetiformis" EXACT [ICD9CM_2006:694.0] +synonym: "Dermatitis herpetiformis" EXACT [SNOMEDCT_2005_07_31:156354007] +synonym: "Dermatitis herpetiformis (disorder)" EXACT [SNOMEDCT_2005_07_31:111196000] +synonym: "Dermatitis herpetiformis [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:200899006] +synonym: "Dermatosis herpetiformis" EXACT [MTHICD9_2006:694.0] +synonym: "Duhring's disease" EXACT [CSP2005:4008-0032] +xref: ICD10CM:L13.0 +xref: ICD9CM:694.0 +xref: MSH:D003874 +xref: NCI:C26742 +xref: SNOMEDCT_US_2015_03_01:111196000 +xref: SNOMEDCT_US_2015_03_01:156354007 +xref: SNOMEDCT_US_2015_03_01:200899006 +xref: UMLS_CUI:C0011608 +is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue +is_a: DOID:8502 ! bullous skin disease + +[Term] +id: DOID:8506 +name: bullous pemphigoid +def: "An autoimmune disease of skin and connective tissue characterized by large blisters." [sn:IEDB] +synonym: "Bullous pemphigoid" EXACT [MTHICD9_2006:694.5] +synonym: "Bullous pemphigoid" EXACT [MTH:NOCODE] +synonym: "Bullous pemphigoid (disorder)" EXACT [SNOMEDCT_2005_07_31:77090002] +xref: ICD10CM:L12 +xref: ICD10CM:L12.0 +xref: ICD10CM:L12.9 +xref: ICD9CM:694.5 +xref: MSH:D010391 +xref: NCI:C34908 +xref: NCI:C84389 +xref: SNOMEDCT_US_2015_03_01:156356009 +xref: SNOMEDCT_US_2015_03_01:200912002 +xref: SNOMEDCT_US_2015_03_01:77090002 +xref: SNOMEDCT_US_2015_03_01:86142006 +xref: UMLS_CUI:C0030805 +is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue + +[Term] +id: DOID:8507 +name: juvenile dermatitis herpetiformis +synonym: "Juvenile dermatitis herpetiformis (disorder)" EXACT [SNOMEDCT_2005_07_31:5906000] +xref: ICD10CM:L12.2 +xref: ICD9CM:694.2 +xref: SNOMEDCT_US_2015_03_01:200900001 +xref: SNOMEDCT_US_2015_03_01:267799009 +xref: SNOMEDCT_US_2015_03_01:5906000 +xref: UMLS_CUI:C0152092 +is_a: DOID:8505 ! dermatitis herpetiformis + +[Term] +id: DOID:8508 +name: subcorneal pustular dermatosis +synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [MTHICD9_2006:694.1] +synonym: "Subcorneal pustular dermatosis" EXACT [ICD9CM_2006:694.1] +synonym: "Subcorneal pustular dermatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:25147002] +xref: ICD10CM:L13.1 +xref: ICD9CM:694.1 +xref: MSH:D012872 +xref: SNOMEDCT_US_2015_03_01:25147002 +xref: UMLS_CUI:C0600336 +is_a: DOID:8502 ! bullous skin disease + +[Term] +id: DOID:851 +name: Bartholin's duct cyst +synonym: "Bartholin duct cyst" EXACT [] +synonym: "Bartholin's Cyst" EXACT [NCI2004_11_17:C26706] +synonym: "Cyst of Bartholin's gland" EXACT [SNOMEDCT_2005_07_31:27978000] +synonym: "Cyst of Bartholin's gland" EXACT [SNOMEDCT_2005_07_31:155982004] +synonym: "Cyst of Bartholin's gland" EXACT [ICD9CM_2006:616.2] +synonym: "Cyst of Bartholin's gland duct (disorder)" EXACT [SNOMEDCT_2005_07_31:57044006] +xref: ICD10CM:N75.0 +xref: ICD9CM:616.2 +xref: NCI:C26706 +xref: SNOMEDCT_US_2015_03_01:155982004 +xref: SNOMEDCT_US_2015_03_01:27978000 +xref: SNOMEDCT_US_2015_03_01:57044006 +xref: UMLS_CUI:C0004767 +is_a: DOID:229 ! female reproductive system disease + +[Term] +id: DOID:8512 +name: puerperal pulmonary embolism +xref: ICD10CM:O88.21 +xref: ICD10CM:O88.23 +xref: ICD9CM:673 +xref: SNOMEDCT_US_2015_03_01:156273009 +xref: SNOMEDCT_US_2015_03_01:200284000 +xref: SNOMEDCT_US_2015_03_01:200320009 +xref: SNOMEDCT_US_2015_03_01:200321008 +xref: SNOMEDCT_US_2015_03_01:200326003 +xref: SNOMEDCT_US_2015_03_01:237341004 +xref: SNOMEDCT_US_2015_03_01:50286006 +xref: UMLS_CUI:C0157540 +is_a: DOID:9477 ! pulmonary embolism + +[Term] +id: DOID:8514 +name: acute pulmonary heart disease +synonym: "acute pulmonary heart disease (disorder)" EXACT [SNOMEDCT_2005_07_31:67189007] +synonym: "acute pulmonary heart disease NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:194884000] +xref: ICD9CM:415 +xref: SNOMEDCT_US_2015_03_01:155324005 +xref: SNOMEDCT_US_2015_03_01:194880009 +xref: SNOMEDCT_US_2015_03_01:194884000 +xref: SNOMEDCT_US_2015_03_01:67189007 +xref: UMLS_CUI:C0155671 +is_a: DOID:8515 ! Cor pulmonale + +[Term] +id: DOID:8515 +name: Cor pulmonale +def: "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs." [url:http\://en.wikipedia.org/wiki/Cor_pulmonale, url:http\://en.wikipedia.org/wiki/Heart_disease] +synonym: "cardiopulmonary disease" EXACT [CSP2005:2595-5525] +synonym: "pulmonary heart disease" EXACT [SNOMEDCT_2005_07_31:155323004] +xref: ICD10CM:I27.81 +xref: ICD10CM:I27.9 +xref: MSH:D011660 +xref: SNOMEDCT_US_2015_03_01:155323004 +xref: SNOMEDCT_US_2015_03_01:155329000 +xref: SNOMEDCT_US_2015_03_01:194879006 +xref: SNOMEDCT_US_2015_03_01:266294009 +xref: SNOMEDCT_US_2015_03_01:274096000 +xref: SNOMEDCT_US_2015_03_01:286952009 +xref: SNOMEDCT_US_2015_03_01:83291003 +xref: UMLS_CUI:C0034072 +is_a: DOID:6000 ! congestive heart failure + +[Term] +id: DOID:8516 +name: pulmonary embolism and infarction +xref: ICD9CM:415.1 +xref: SNOMEDCT_US_2015_03_01:1001000119102 +xref: UMLS_CUI:C0034066 +is_a: DOID:8514 ! acute pulmonary heart disease + +[Term] +id: DOID:8517 +name: acute cor pulmonale +synonym: "acute cor pulmonale (disorder)" EXACT [SNOMEDCT_2005_07_31:49584005] +xref: ICD10CM:I26.09 +xref: ICD9CM:415.0 +xref: SNOMEDCT_US_2015_03_01:155325006 +xref: SNOMEDCT_US_2015_03_01:194881008 +xref: SNOMEDCT_US_2015_03_01:49584005 +xref: UMLS_CUI:C0155672 +is_a: DOID:8514 ! acute pulmonary heart disease + +[Term] +id: DOID:8519 +name: barbiturate abuse +def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Barbiturate] +xref: ICD9CM:305.43 +xref: UMLS_CUI:C0154529 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:8521 +name: recurrent manic episodes +is_obsolete: true + +[Term] +id: DOID:8523 +name: nodular lymphoma involving lymph nodes of axilla and upper limb +synonym: "nodular lymphoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188612002] +synonym: "nodular lymphoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:95189004] +is_obsolete: true + +[Term] +id: DOID:8524 +name: nodular lymphoma +alt_id: DOID:8603 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Follicle Center Lymphoma" EXACT [NCI2004_11_17:C3209] +synonym: "Follicular low grade B-cell lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:277618009] +synonym: "follicular lymphoma" EXACT [CSP2005:4001-0094] +synonym: "Follicular non-Hodgkin's lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:308121000] +synonym: "Giant follicular lymphosarcoma" EXACT [MTHICD9_2006:202.0] +synonym: "malignant lymphoma, follicle centre" EXACT [SNOMEDCT_2005_07_31:55150002] +synonym: "malignant lymphoma, nodular NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:269510001] +synonym: "nodular lymphoma (Brill - Symmers disease)" EXACT [SNOMEDCT_2005_07_31:188607003] +is_obsolete: true + +[Term] +id: DOID:8525 +name: nodular lymphoma involving intra-abdominal lymph nodes +is_obsolete: true + +[Term] +id: DOID:8527 +name: monocytic leukemia +alt_id: DOID:8526 +alt_id: DOID:8809 +alt_id: DOID:8884 +alt_id: DOID:8935 +alt_id: DOID:9151 +synonym: "Schilling's leukemia" EXACT [CSP2005:2004-2820] +xref: ICD10CM:C93.Z +xref: ICD10CM:C93.Z0 +xref: ICD9CM:206.8 +xref: SNOMEDCT_US_2015_03_01:188747004 +xref: SNOMEDCT_US_2015_03_01:188749001 +xref: SNOMEDCT_US_2015_03_01:190062007 +xref: SNOMEDCT_US_2015_03_01:190160002 +xref: UMLS_CUI:C0153903 +is_a: DOID:8692 ! myeloid leukemia + +[Term] +id: DOID:8529 +name: ulcer of lower limbs +alt_id: DOID:8528 +alt_id: DOID:8610 +alt_id: DOID:8655 +alt_id: DOID:9034 +alt_id: DOID:9086 +alt_id: DOID:9200 +alt_id: DOID:9237 +def: "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer] +synonym: "Ulcer of ankle" EXACT [] +synonym: "Ulcer of calf" EXACT [] +synonym: "Ulcer of calf (disorder)" EXACT [SNOMEDCT_2005_07_31:301023008] +synonym: "Ulcer of heel and midfoot" EXACT [] +synonym: "Ulcer of lower limb, unspecified" EXACT [] +synonym: "Ulcer of other part of foot" EXACT [] +synonym: "Ulcer of other part of lower limb" EXACT [] +synonym: "Ulcer of thigh" EXACT [] +is_a: DOID:8549 ! chronic ulcer of skin + +[Term] +id: DOID:853 +name: polymyalgia rheumatica +synonym: "Polymyalgia rheumatica" EXACT [SNOMEDCT_2005_07_31:156656001] +synonym: "Polymyalgia rheumatica" EXACT [ICD9CM_2006:725] +synonym: "Polymyalgia rheumatica" EXACT [SNOMEDCT_2005_07_31:202834009] +synonym: "Polymyalgia rheumatica (disorder)" EXACT [SNOMEDCT_2005_07_31:65323003] +synonym: "Polymyalgia rheumatica [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:267988003] +xref: ICD10CM:M35.3 +xref: ICD9CM:725 +xref: MSH:D011111 +xref: NCI:C85018 +xref: SNOMEDCT_US_2015_03_01:156656001 +xref: SNOMEDCT_US_2015_03_01:202834009 +xref: SNOMEDCT_US_2015_03_01:267988003 +xref: SNOMEDCT_US_2015_03_01:65323003 +xref: UMLS_CUI:C0032533 +is_a: DOID:423 ! myopathy +is_a: DOID:854 ! collagen disease + +[Term] +id: DOID:8530 +name: toxic gastroenteritis and colitis +is_obsolete: true + +[Term] +id: DOID:8533 +name: hypopharynx cancer +alt_id: DOID:12202 +alt_id: DOID:8532 +alt_id: DOID:9160 +def: "A pharynx cancer that is located_in the hypopharynx." [url:http\://en.wikipedia.org/wiki/Hypopharynx] +subset: DO_cancer_slim +synonym: "Hypopharyngeal cancer" EXACT [MTH:NOCODE] +synonym: "malignant Hypopharyngeal tumor" EXACT [NCI2004_11_17:C7190] +synonym: "malignant neoplasm of hypopharynx" EXACT [ICD9CM_2006:148] +synonym: "malignant neoplasm of hypopharynx NOS" EXACT [MTHICD9_2006:148.9] +synonym: "malignant neoplasm of hypopharynx NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187712005] +synonym: "malignant neoplasm of hypopharynx, NOS" EXACT [SNOMEDCT_2005_07_31:93831006] +synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [] +synonym: "malignant neoplasm of other specified hypopharyngeal site (disorder)" EXACT [SNOMEDCT_2005_07_31:187711003] +synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [] +synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [] +synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [MTH:U001377] +synonym: "malignant tumor of hypopharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:363399006] +synonym: "malignant tumor of posterior wall of hypopharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:303012000] +synonym: "malignant tumour of hypopharynx" EXACT [SNOMEDCT_2005_07_31:187717004] +xref: ICD10CM:C13 +xref: ICD10CM:C13.2 +xref: ICD10CM:C13.9 +xref: ICD9CM:148 +xref: ICD9CM:148.3 +xref: ICD9CM:148.9 +xref: MSH:D007012 +xref: NCI:C7190 +xref: SNOMEDCT_US_2015_03_01:187712005 +xref: SNOMEDCT_US_2015_03_01:187717004 +xref: SNOMEDCT_US_2015_03_01:303012000 +xref: SNOMEDCT_US_2015_03_01:363399006 +xref: SNOMEDCT_US_2015_03_01:93831006 +xref: SNOMEDCT_US_2015_03_01:93968005 +xref: UMLS_CUI:C0153398 +xref: UMLS_CUI:C0496770 +is_a: DOID:0060119 ! pharynx cancer + +[Term] +id: DOID:8534 +name: gastroesophageal reflux disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Acid reflux" EXACT [SNOMEDCT_2005_07_31:196624002] +synonym: "Gastresophageal reflux" EXACT [SNOMEDCT_2005_07_31:102620007] +synonym: "Gastro-esophageal reflux" EXACT [SNOMEDCT_2005_07_31:266498005] +synonym: "Gastro-esophageal reflux" EXACT [SNOMEDCT_2005_07_31:155673008] +synonym: "Gastroesophageal reflux" EXACT [MTHICD9_2006:530.81] +synonym: "Gastroesophageal reflux disease" EXACT [MTH:NOCODE] +synonym: "GERD" EXACT [NCI2004_11_17:C26781] +synonym: "GERD - Gastro-esophageal reflux disease" EXACT [SNOMEDCT_2005_07_31:235595009] +xref: ICD10CM:K21 +xref: ICD10CM:K21.9 +xref: ICD9CM:530.81 +xref: MSH:D005764 +xref: NCI:C26781 +xref: NCI:C92560 +xref: OMIM:109350 +xref: SNOMEDCT_US_2015_03_01:102620007 +xref: SNOMEDCT_US_2015_03_01:155673008 +xref: SNOMEDCT_US_2015_03_01:196600005 +xref: SNOMEDCT_US_2015_03_01:196624002 +xref: SNOMEDCT_US_2015_03_01:235595009 +xref: SNOMEDCT_US_2015_03_01:266498005 +xref: SNOMEDCT_US_2015_03_01:54856001 +xref: SNOMEDCT_US_2015_03_01:698065002 +xref: UMLS_CUI:C0017168 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:8535 +name: ophthalmic herpes zoster +alt_id: DOID:9101 +def: "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." [url:http\://emedicine.medscape.com/article/783223-overview] +synonym: "Herpes zoster ophthalmicus" EXACT [MTHICD9_2006:053.20] +synonym: "Herpes zoster ophthalmicus (disorder)" EXACT [SNOMEDCT_2005_07_31:87513003] +synonym: "Herpes zoster with ophthalmic complication (disorder)" EXACT [SNOMEDCT_2005_07_31:186524006] +synonym: "Herpes zoster with other ophthalmic complication (disorder)" EXACT [SNOMEDCT_2005_07_31:186527004] +synonym: "herpes zoster with other ophthalmic complications" EXACT [] +synonym: "Ophthalmic herpes zoster infection" EXACT [SNOMEDCT_2005_07_31:186526008] +is_obsolete: true + +[Term] +id: DOID:8536 +name: herpes zoster +alt_id: DOID:8554 +alt_id: DOID:8555 +alt_id: DOID:8772 +alt_id: DOID:8801 +alt_id: DOID:9085 +def: "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia." [url:http\://en.wikipedia.org/wiki/Herpes_zoster, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000858.htm] +synonym: "herpes zona" EXACT [CSP2005:3099-9793] +synonym: "Shingles" EXACT [SNOMEDCT_2005_07_31:186514003] +xref: ICD10CM:B02 +xref: ICD10CM:B02.9 +xref: ICD9CM:053 +xref: MSH:D006562 +xref: NCI:C71079 +xref: SNOMEDCT_US_2015_03_01:154326002 +xref: SNOMEDCT_US_2015_03_01:186514003 +xref: SNOMEDCT_US_2015_03_01:186533008 +xref: SNOMEDCT_US_2015_03_01:4740000 +xref: UMLS_CUI:C0019360 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8538 +name: reticulosarcoma +alt_id: DOID:8537 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "histiocytic lymphoma" EXACT [CSP2005:2004-7036] +synonym: "large-cell Lymphomas" EXACT [MTH:NOCODE] +xref: ICD9CM:200.0 +xref: ICD9CM:200.7 +xref: MSH:D008228 +xref: NCI:C27824 +xref: OMIM:267730 +xref: SNOMEDCT_US_2015_03_01:118604003 +xref: SNOMEDCT_US_2015_03_01:154579006 +xref: SNOMEDCT_US_2015_03_01:188488003 +xref: SNOMEDCT_US_2015_03_01:188497004 +xref: SNOMEDCT_US_2015_03_01:189982000 +xref: SNOMEDCT_US_2015_03_01:189983005 +xref: SNOMEDCT_US_2015_03_01:189986002 +xref: SNOMEDCT_US_2015_03_01:190012002 +xref: SNOMEDCT_US_2015_03_01:373168002 +xref: SNOMEDCT_US_2015_03_01:40152000 +xref: UMLS_CUI:C0024302 +is_a: DOID:0060073 ! lymphatic system cancer + +[Term] +id: DOID:8539 +name: recurrent manic episodes in full remission +synonym: "Manic disorder, recurrent episode, in full remission" EXACT [ICD9CM_2006:296.16] +synonym: "recurrent manic episodes, in full remission (disorder)" EXACT [SNOMEDCT_2005_07_31:191597008] +is_obsolete: true + +[Term] +id: DOID:854 +name: collagen disease +synonym: "collagen disorder" EXACT [CSP2005:0729-7550] +xref: MSH:D003095 +xref: NCI:C27204 +xref: SNOMEDCT_US_2015_03_01:156458006 +xref: SNOMEDCT_US_2015_03_01:201434000 +xref: SNOMEDCT_US_2015_03_01:201454004 +xref: SNOMEDCT_US_2015_03_01:268048008 +xref: SNOMEDCT_US_2015_03_01:81573002 +xref: UMLS_CUI:C0009326 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:8540 +name: Sezary's disease involving lymph nodes of head, face, and neck +synonym: "Sezary's disease involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:202.21] +synonym: "Sezary's disease of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188630009] +synonym: "Szary's disease of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:95260009] +is_obsolete: true + +[Term] +id: DOID:8541 +name: Sezary's disease +alt_id: DOID:8790 +synonym: "Sezary disease" EXACT [] +synonym: "Sezary syndrome" EXACT [MTH:U002240] +xref: ICD10CM:C84.1 +xref: ICD10CM:C84.10 +xref: ICD9CM:202.2 +xref: MSH:D012751 +xref: NCI:C3366 +xref: SNOMEDCT_US_2015_03_01:118611004 +xref: SNOMEDCT_US_2015_03_01:188629004 +xref: SNOMEDCT_US_2015_03_01:188638002 +xref: SNOMEDCT_US_2015_03_01:4950009 +xref: UMLS_CUI:C0036920 +is_a: DOID:0060061 ! cutaneous T cell lymphoma + +[Term] +id: DOID:8542 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188558005] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93496009] +is_obsolete: true + +[Term] +id: DOID:8543 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance +synonym: "Hodgkin lymphoma, lymphocyte-rich (disorder)" EXACT [SNOMEDCT_2005_07_31:118607005] +synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [] +synonym: "Hodgkin's disease, lymphocyte predominance [obs]" EXACT [SNOMEDCT_2005_07_31:128799007] +synonym: "Lymphocyte Rich Hodgkin's disease" EXACT [NCI2004_11_17:C6913] +xref: ICD10CM:C81.4 +xref: ICD9CM:201.4 +xref: MSH:D006689 +xref: NCI:C6913 +xref: SNOMEDCT_US_2015_03_01:118607005 +xref: SNOMEDCT_US_2015_03_01:128799007 +xref: SNOMEDCT_US_2015_03_01:188553001 +xref: SNOMEDCT_US_2015_03_01:188563009 +xref: SNOMEDCT_US_2015_03_01:189988001 +xref: SNOMEDCT_US_2015_03_01:59668005 +xref: UMLS_CUI:C1266194 +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:8544 +name: chronic fatigue syndrome +def: "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions." [url:http\://en.wikipedia.org/wiki/Chronic_fatigue_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/?term=Chronic%20fatigue%20syndrome] +comment: No OMIM mapping, confirmed by DO. [LS]. +synonym: "CFS" EXACT [CSP2005:0944-7840] +synonym: "Myalgic encephalitis" EXACT [SNOMEDCT_2005_07_31:154989001] +synonym: "Myalgic encephalomyelitis" EXACT [SNOMEDCT_2005_07_31:154991009] +synonym: "Postviral fatigue syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:51771007] +xref: ICD10CM:G93.3 +xref: ICD10CM:R53.82 +xref: ICD9CM:780.71 +xref: MSH:D015673 +xref: NCI:C3037 +xref: SNOMEDCT_US_2015_03_01:154989001 +xref: SNOMEDCT_US_2015_03_01:154991009 +xref: SNOMEDCT_US_2015_03_01:155062000 +xref: SNOMEDCT_US_2015_03_01:192735003 +xref: SNOMEDCT_US_2015_03_01:193054000 +xref: SNOMEDCT_US_2015_03_01:247372003 +xref: SNOMEDCT_US_2015_03_01:267683005 +xref: SNOMEDCT_US_2015_03_01:267684004 +xref: SNOMEDCT_US_2015_03_01:271798008 +xref: SNOMEDCT_US_2015_03_01:51771007 +xref: SNOMEDCT_US_2015_03_01:52702003 +xref: UMLS_CUI:C0015674 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:8545 +name: malignant hyperthermia +def: "A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature." [url:http\://en.wikipedia.org/wiki/Malignant_hyperthermia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "anesthesia related hyperthermia" EXACT [CSP2005:2871-4352] +synonym: "malignant hyperpyrexia due to anesthesia" EXACT [MTHICD9_2006:995.86] +xref: ICD10CM:T88.3 +xref: ICD9CM:995.86 +xref: MSH:D008305 +xref: NCI:C84869 +xref: OMIM:145600 +xref: OMIM:154275 +xref: OMIM:154576 +xref: OMIM:600467 +xref: OMIM:601887 +xref: OMIM:601888 +xref: ORDO:423 +xref: SNOMEDCT_US_2015_03_01:111738008 +xref: SNOMEDCT_US_2015_03_01:157762007 +xref: SNOMEDCT_US_2015_03_01:213026003 +xref: SNOMEDCT_US_2015_03_01:248453001 +xref: SNOMEDCT_US_2015_03_01:269435009 +xref: SNOMEDCT_US_2015_03_01:405500008 +xref: SNOMEDCT_US_2015_03_01:405501007 +xref: UMLS_CUI:C0024591 +is_a: DOID:630 ! genetic disease + +[Term] +id: DOID:8549 +name: chronic ulcer of skin +alt_id: DOID:8548 +alt_id: DOID:8733 +synonym: "Callous ulcer (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:295358007] +synonym: "Indolent ulcer (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:296375005] +xref: ICD10CM:L98.4 +xref: ICD9CM:707 +xref: SNOMEDCT_US_2015_03_01:156423009 +xref: SNOMEDCT_US_2015_03_01:156426001 +xref: SNOMEDCT_US_2015_03_01:19429009 +xref: SNOMEDCT_US_2015_03_01:201259007 +xref: UMLS_CUI:C0157738 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:8552 +name: chronic myeloid leukemia +alt_id: DOID:8551 +alt_id: DOID:8606 +def: "A myeloid leukemia that is characterized by over production of white blood cells." [url:http\://www.cancer.gov/dictionary?CdrID=46755] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "chronic granulocytic leukemia" EXACT [] +synonym: "chronic myelogenous leukemia" EXACT [] +synonym: "CML" EXACT [CSP2005:2004-1700] +synonym: "CML - chronic Myelogenous Leukemia" EXACT [NCI2004_11_17:C3174] +synonym: "Myeloid Leukemia, chronic" EXACT [MTH:NOCODE] +xref: EFO:0000339 +xref: ICD9CM:205.1 +xref: KEGG:05220 +xref: MSH:D015464 +xref: NCI:C3174 +xref: OMIM:608232 +xref: SNOMEDCT_US_2015_03_01:154592009 +xref: SNOMEDCT_US_2015_03_01:188735005 +xref: SNOMEDCT_US_2015_03_01:63364005 +xref: SNOMEDCT_US_2015_03_01:92818009 +xref: UMLS_CUI:C0023473 +is_a: DOID:8692 ! myeloid leukemia + +[Term] +id: DOID:8553 +name: pyoderma gangrenosum +synonym: "Pyoderma gangrenosum (disorder)" EXACT [SNOMEDCT_2005_07_31:74578003] +xref: ICD10CM:L88 +xref: ICD9CM:686.01 +xref: MSH:D017511 +xref: SNOMEDCT_US_2015_03_01:74578003 +xref: UMLS_CUI:C0085652 +is_a: DOID:4223 ! pyoderma + +[Term] +id: DOID:8556 +name: vallecula cancer +synonym: "malignant tumor of vallecula (disorder)" EXACT [SNOMEDCT_2005_07_31:363395000] +xref: ICD10CM:C10.0 +xref: ICD9CM:146.3 +xref: SNOMEDCT_US_2015_03_01:363395000 +xref: SNOMEDCT_US_2015_03_01:94132005 +xref: UMLS_CUI:C0153386 +is_a: DOID:8557 ! oropharynx cancer + +[Term] +id: DOID:8557 +name: oropharynx cancer +alt_id: DOID:8684 +alt_id: DOID:8851 +alt_id: DOID:8949 +alt_id: DOID:9168 +def: "A pharynx cancer that is located_in the oropharynx." [url:http\://www.cancer.gov/dictionary?CdrID=446523] +subset: DO_cancer_slim +synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [] +synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [MTH:U000704] +synonym: "malignant neoplasm of oropharynx" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [] +synonym: "malignant Oropharyngeal tumor" EXACT [NCI2004_11_17:C7398] +synonym: "malignant tumor of oropharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:363392002] +synonym: "malignant tumor of posterior wall of oropharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:187688008] +synonym: "malignant tumour of mesopharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:373653002] +synonym: "oropharyngeal cancer" EXACT [CSP2005:2013-1302] +synonym: "Oropharyngeal carcinoma" EXACT [NCI2004_11_17:C9105] +synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [SNOMEDCT_2005_07_31:93862005] +xref: ICD10CM:C10 +xref: ICD10CM:C10.2 +xref: ICD10CM:C10.3 +xref: ICD10CM:C10.8 +xref: ICD10CM:C10.9 +xref: ICD9CM:146 +xref: ICD9CM:146.5 +xref: ICD9CM:146.6 +xref: ICD9CM:146.7 +xref: ICD9CM:146.9 +xref: NCI:C7398 +xref: SNOMEDCT_US_2015_03_01:187686007 +xref: SNOMEDCT_US_2015_03_01:187688008 +xref: SNOMEDCT_US_2015_03_01:187691008 +xref: SNOMEDCT_US_2015_03_01:363392002 +xref: SNOMEDCT_US_2015_03_01:373653002 +xref: SNOMEDCT_US_2015_03_01:448868009 +xref: SNOMEDCT_US_2015_03_01:93933005 +xref: SNOMEDCT_US_2015_03_01:93971002 +xref: UMLS_CUI:C0153382 +xref: UMLS_CUI:C0153388 +xref: UMLS_CUI:C0153389 +xref: UMLS_CUI:C0153390 +is_a: DOID:0060119 ! pharynx cancer + +[Term] +id: DOID:8559 +name: carcinoma in situ of female genital organs +synonym: "carcinoma in situ of other and unspecified female genital organs (disorder)" EXACT [SNOMEDCT_2005_07_31:189344000] +is_obsolete: true + +[Term] +id: DOID:856 +name: biotinidase deficiency +def: "A multiple carboxylase deficiency that involves a deficiency in biotinidase." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "BTD deficiency " EXACT [] +synonym: "deficiency of biotinidase (disorder)" EXACT [SNOMEDCT_2005_07_31:124513002] +synonym: "Juvenile-onset multiple carboxylase deficiency " EXACT [] +synonym: "Late-onset multiple carboxylase deficiency" EXACT [] +xref: ICD10CM:D81.810 +xref: MSH:D028921 +xref: NCI:C84598 +xref: OMIM:253260 +xref: SNOMEDCT_US_2015_03_01:124513002 +xref: SNOMEDCT_US_2015_03_01:8808004 +xref: UMLS_CUI:C0220754 +is_a: DOID:857 ! multiple carboxylase deficiency + +[Term] +id: DOID:8560 +name: carcinoma in situ of breast and genitourinary system +synonym: "carcinoma in situ of breast and genitourinary system (disorder)" EXACT [SNOMEDCT_2005_07_31:189335001] +is_obsolete: true + +[Term] +id: DOID:8564 +name: lip cancer +alt_id: DOID:8563 +alt_id: DOID:8605 +alt_id: DOID:8975 +alt_id: DOID:9031 +alt_id: DOID:9135 +synonym: "malignant neoplasm of commissure of lip" EXACT [] +synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [MTHICD9_2006:140.9] +synonym: "malignant neoplasm of labial commissure of lip" EXACT [MTHICD9_2006:140.6] +synonym: "malignant neoplasm of lip unspecified, inner aspect (disorder)" EXACT [SNOMEDCT_2005_07_31:187618001] +synonym: "malignant neoplasm of lip, inner aspect" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of lip, inner aspect NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187623001] +synonym: "malignant neoplasm of lip, unspecified" EXACT [SNOMEDCT_2005_07_31:187625008] +synonym: "malignant neoplasm of lip, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:309808004] +synonym: "malignant neoplasm of lip, unspecified, external (disorder)" EXACT [SNOMEDCT_2005_07_31:187628005] +synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [] +synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [] +synonym: "malignant neoplasm of lip, vermilion border NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187630007] +synonym: "malignant neoplasm of lower lip, buccal aspect (disorder)" EXACT [SNOMEDCT_2005_07_31:187613005] +synonym: "malignant neoplasm of lower lip, inner aspect NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187617006] +synonym: "malignant neoplasm of lower lip, mucosa (disorder)" EXACT [SNOMEDCT_2005_07_31:187615003] +synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [MTHICD9_2006:140.4] +synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [MTHICD9_2006:140.5] +synonym: "malignant neoplasm of other sites of lip" EXACT [] +synonym: "malignant neoplasm of other sites of lip (disorder)" EXACT [SNOMEDCT_2005_07_31:187626009] +synonym: "malignant neoplasm of vermilion border of lip" EXACT [SNOMEDCT_2005_07_31:94135007] +synonym: "malignant neoplasm of vermilion border of lip unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187627000] +synonym: "malignant tumor of commissure of lip" EXACT [MTH:NOCODE] +synonym: "malignant tumor of commissure of lip (disorder)" EXACT [SNOMEDCT_2005_07_31:363374005] +synonym: "malignant tumor of labial mucosa (disorder)" EXACT [SNOMEDCT_2005_07_31:187622006] +synonym: "malignant tumor of lip (disorder)" EXACT [SNOMEDCT_2005_07_31:363348004] +synonym: "malignant tumor of lower labial mucosa (disorder)" EXACT [SNOMEDCT_2005_07_31:271568003] +synonym: "malignant tumor of the Lip" EXACT [NCI2004_11_17:C7485] +synonym: "malignant tumour of labial commissure" EXACT [SNOMEDCT_2005_07_31:93762003] +synonym: "malignant tumour of lip" EXACT [SNOMEDCT_2005_07_31:93869001] +xref: ICD10CM:C00 +xref: ICD10CM:C00.9 +xref: ICD9CM:140 +xref: ICD9CM:140.6 +xref: ICD9CM:140.8 +xref: MSH:D008048 +xref: NCI:C7485 +xref: SNOMEDCT_US_2015_03_01:187599002 +xref: SNOMEDCT_US_2015_03_01:187625008 +xref: SNOMEDCT_US_2015_03_01:187626009 +xref: SNOMEDCT_US_2015_03_01:309808004 +xref: SNOMEDCT_US_2015_03_01:363348004 +xref: SNOMEDCT_US_2015_03_01:363374005 +xref: SNOMEDCT_US_2015_03_01:93762003 +xref: SNOMEDCT_US_2015_03_01:93869001 +xref: UMLS_CUI:C0153340 +xref: UMLS_CUI:C0153346 +xref: UMLS_CUI:C0153347 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8566 +name: herpes simplex +alt_id: DOID:8763 +alt_id: DOID:9012 +alt_id: DOID:9239 +def: "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html] +synonym: "Herpesvirus hominis disease" EXACT [CSP2005:3099-9580] +xref: ICD10CM:B00 +xref: ICD10CM:B00.9 +xref: ICD9CM:054 +xref: MSH:D006561 +xref: SNOMEDCT_US_2015_03_01:154332007 +xref: SNOMEDCT_US_2015_03_01:186534002 +xref: SNOMEDCT_US_2015_03_01:266191005 +xref: SNOMEDCT_US_2015_03_01:88594005 +xref: UMLS_CUI:C0019348 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8567 +name: Hodgkin's lymphoma +alt_id: DOID:0060059 +alt_id: DOID:8652 +alt_id: DOID:8671 +alt_id: DOID:8685 +alt_id: DOID:8710 +alt_id: DOID:8715 +alt_id: DOID:8841 +alt_id: DOID:8953 +alt_id: DOID:9096 +alt_id: DOID:9107 +def: "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell." [url:v] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "HL" EXACT [NCI2004_11_17:C9357] +synonym: "Hodgkin disease" EXACT [MTH:NOCODE] +synonym: "Hodgkin lymphoma" EXACT [] +synonym: "Hodgkin's sarcoma" EXACT [ICD9CM_2006:201.2] +synonym: "Hodgkins lymphoma" EXACT [] +synonym: "stage I Subdiaphragmatic Hodgkin Lymphoma" EXACT [NCI2004_11_17:C5012] +synonym: "stage II Subdiaphragmatic Hodgkin Lymphoma" EXACT [NCI2004_11_17:C5010] +xref: EFO:0000183 +xref: ICD10CM:C81 +xref: ICD10CM:C81.9 +xref: ICD9CM:201 +xref: ICD9CM:201.0 +xref: ICD9CM:201.1 +xref: ICD9CM:201.2 +xref: ICD9CM:201.9 +xref: MSH:D006689 +xref: NCI:C26956 +xref: NCI:C6914 +xref: NCI:C9357 +xref: OMIM:236000 +xref: OMIM:300221 +xref: OMIM:400021 +xref: ORDO:98293 +xref: SNOMEDCT_US_2015_03_01:118599009 +xref: SNOMEDCT_US_2015_03_01:118602004 +xref: SNOMEDCT_US_2015_03_01:118605002 +xref: SNOMEDCT_US_2015_03_01:118606001 +xref: SNOMEDCT_US_2015_03_01:14537002 +xref: SNOMEDCT_US_2015_03_01:154582001 +xref: SNOMEDCT_US_2015_03_01:188521005 +xref: SNOMEDCT_US_2015_03_01:188522003 +xref: SNOMEDCT_US_2015_03_01:188532005 +xref: SNOMEDCT_US_2015_03_01:188533000 +xref: SNOMEDCT_US_2015_03_01:188542007 +xref: SNOMEDCT_US_2015_03_01:188543002 +xref: SNOMEDCT_US_2015_03_01:188552006 +xref: SNOMEDCT_US_2015_03_01:188595005 +xref: SNOMEDCT_US_2015_03_01:188596006 +xref: SNOMEDCT_US_2015_03_01:188605006 +xref: SNOMEDCT_US_2015_03_01:189987006 +xref: SNOMEDCT_US_2015_03_01:189991001 +xref: SNOMEDCT_US_2015_03_01:189992008 +xref: SNOMEDCT_US_2015_03_01:269509006 +xref: SNOMEDCT_US_2015_03_01:309831004 +xref: SNOMEDCT_US_2015_03_01:46923007 +xref: SNOMEDCT_US_2015_03_01:52337003 +xref: SNOMEDCT_US_2015_03_01:70600005 +xref: SNOMEDCT_US_2015_03_01:74189002 +xref: UMLS_CUI:C0019829 +is_a: DOID:0060058 ! lymphoma + +[Term] +id: DOID:8568 +name: infectious mononucleosis +def: "A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly." [url:http\://en.wikipedia.org/wiki/Infectious_mononucleosis, url:http\://www.cdc.gov/ncidod/diseases/ebv.htm] +synonym: "Filatov's disease" EXACT [] +synonym: "Gammaherpesviral mononucleosis (disorder)" EXACT [SNOMEDCT_2005_07_31:186668002] +synonym: "glandular fever" EXACT [] +synonym: "Monocytic angina" EXACT [MTHICD9_2006:075] +synonym: "mononucleosis" EXACT [CSP2005:0427-6541] +synonym: "Pfeiffer's disease" EXACT [SNOMEDCT_2005_07_31:186670006] +synonym: "Pfeiffer's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:314131007] +xref: ICD10CM:B27 +xref: ICD10CM:B27.0 +xref: ICD10CM:B27.9 +xref: ICD9CM:075 +xref: MSH:D007244 +xref: NCI:C34726 +xref: SNOMEDCT_US_2015_03_01:154359004 +xref: SNOMEDCT_US_2015_03_01:186667007 +xref: SNOMEDCT_US_2015_03_01:186668002 +xref: SNOMEDCT_US_2015_03_01:186670006 +xref: SNOMEDCT_US_2015_03_01:187460007 +xref: SNOMEDCT_US_2015_03_01:26851006 +xref: SNOMEDCT_US_2015_03_01:271558008 +xref: SNOMEDCT_US_2015_03_01:314131007 +xref: UMLS_CUI:C0021345 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:857 +name: multiple carboxylase deficiency +def: "An amino acid metabolic disorder that involves failures of carboxylation enzymes." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148] +xref: ICD10CM:D81.81 +xref: ICD10CM:D81.819 +xref: MSH:D009100 +xref: UMLS_CUI:C0026755 +is_a: DOID:2978 ! carbohydrate metabolic disorder +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:8573 +name: lichen nitidus +synonym: "Lichen nitidus (disorder)" EXACT [SNOMEDCT_2005_07_31:41890004] +synonym: "Pinkus' disease" EXACT [SNOMEDCT_2005_07_31:25147002] +synonym: "Pinkus' disease" EXACT [MTHICD9_2006:697.1] +xref: ICD10CM:L44.1 +xref: ICD9CM:697.1 +xref: MSH:D017513 +xref: SNOMEDCT_US_2015_03_01:25147002 +xref: SNOMEDCT_US_2015_03_01:41890004 +xref: UMLS_CUI:C0162849 +is_a: DOID:8574 ! lichen disease + +[Term] +id: DOID:8574 +name: lichen disease +xref: ICD10CM:L28.0 +xref: ICD9CM:697 +xref: ICD9CM:697.9 +xref: SNOMEDCT_US_2015_03_01:156376003 +xref: SNOMEDCT_US_2015_03_01:156379005 +xref: SNOMEDCT_US_2015_03_01:200998004 +xref: SNOMEDCT_US_2015_03_01:201010002 +xref: SNOMEDCT_US_2015_03_01:88996004 +xref: UMLS_CUI:C0023643 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:8577 +name: ulcerative colitis +alt_id: DOID:8576 +alt_id: DOID:9016 +def: "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." [MSH:D003093, url:http\://en.wikipedia.org/wiki/Ulcerative_colitis] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "Left-sided ulcerative colitis" EXACT [MTHICD9_2006:556.5] +xref: EFO:0000729 +xref: ICD10CM:K51 +xref: ICD10CM:K51.9 +xref: ICD9CM:556 +xref: ICD9CM:556.5 +xref: ICD9CM:556.9 +xref: MSH:D003093 +xref: NCI:C2952 +xref: OMIM:266600 +xref: SNOMEDCT_US_2015_03_01:155764007 +xref: SNOMEDCT_US_2015_03_01:196985000 +xref: SNOMEDCT_US_2015_03_01:196988003 +xref: SNOMEDCT_US_2015_03_01:196996008 +xref: SNOMEDCT_US_2015_03_01:266447004 +xref: SNOMEDCT_US_2015_03_01:27701000 +xref: SNOMEDCT_US_2015_03_01:441971007 +xref: SNOMEDCT_US_2015_03_01:64766004 +xref: SNOMEDCT_US_2015_03_01:68195006 +xref: UMLS_CUI:C0009324 +xref: UMLS_CUI:C0375359 +is_a: DOID:0060180 ! colitis + +[Term] +id: DOID:8578 +name: soft palate cancer +synonym: "malignant tumor of soft palate (disorder)" EXACT [SNOMEDCT_2005_07_31:363388009] +synonym: "malignant tumor of the soft Palate" EXACT [NCI2004_11_17:C3529] +xref: ICD10CM:C05.1 +xref: ICD9CM:145.3 +xref: NCI:C3529 +xref: SNOMEDCT_US_2015_03_01:363388009 +xref: SNOMEDCT_US_2015_03_01:94049001 +xref: UMLS_CUI:C0153376 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8580 +name: malignant histiocytosis +alt_id: DOID:8579 +synonym: "Histiocytic medullary reticulosis [obs]" EXACT [SNOMEDCT_2005_07_31:128920006] +synonym: "malignant midline reticulosis" EXACT [SNOMEDCT_2005_07_31:66855003] +synonym: "malignant reticulosis" EXACT [MTHICD9_2006:202.3] +synonym: "Stewart's granuloma" EXACT [SNOMEDCT_2005_07_31:277648007] +xref: ICD10CM:C96.A +xref: ICD9CM:202.3 +xref: MSH:D054747 +xref: NCI:C7202 +xref: SNOMEDCT_US_2015_03_01:118612006 +xref: SNOMEDCT_US_2015_03_01:128920006 +xref: SNOMEDCT_US_2015_03_01:134179007 +xref: SNOMEDCT_US_2015_03_01:188643009 +xref: SNOMEDCT_US_2015_03_01:188690006 +xref: SNOMEDCT_US_2015_03_01:277648007 +xref: SNOMEDCT_US_2015_03_01:66855003 +xref: SNOMEDCT_US_2015_03_01:8139000 +xref: UMLS_CUI:C0019623 +is_a: DOID:3405 ! histiocytosis + +[Term] +id: DOID:8583 +name: Burkitt's tumor or lymphoma involving intrathoracic lymph nodes +synonym: "Burkitt's lymphoma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188511002] +is_obsolete: true + +[Term] +id: DOID:8584 +name: Burkitt lymphoma +def: "A mature B-cell neoplasm of B-cells found in the germinal center." [url:http\://en.wikipedia.org/wiki/Burkitt%27s_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45203] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "Burkitt lymphoma/leukaemia" EXACT [SNOMEDCT_2005_07_31:397400006] +synonym: "Burkitt's Lymphoma" EXACT [MTH:NOCODE] +synonym: "Burkitt's tumor" EXACT [CSP2005:2004-6947] +synonym: "Burkitt's tumor or lymphoma" EXACT [] +synonym: "malignant lymphoma, Burkitt's type" EXACT [MTHICD9_2006:200.2] +synonym: "small Non-Cleaved cell Lymphoma, Burkitt's type" EXACT [NCI2004_11_17:C2912] +xref: ICD10CM:C83.7 +xref: ICD10CM:C83.70 +xref: ICD9CM:200.2 +xref: MSH:D002051 +xref: NCI:C2912 +xref: NCI:C7400 +xref: OMIM:113970 +xref: SNOMEDCT_US_2015_03_01:118617000 +xref: SNOMEDCT_US_2015_03_01:154581008 +xref: SNOMEDCT_US_2015_03_01:188509006 +xref: SNOMEDCT_US_2015_03_01:188518008 +xref: SNOMEDCT_US_2015_03_01:190022008 +xref: SNOMEDCT_US_2015_03_01:190023003 +xref: SNOMEDCT_US_2015_03_01:22197008 +xref: SNOMEDCT_US_2015_03_01:277571004 +xref: SNOMEDCT_US_2015_03_01:397400006 +xref: SNOMEDCT_US_2015_03_01:77381001 +xref: UMLS_CUI:C0006413 +is_a: DOID:706 ! mature B-cell neoplasm + +[Term] +id: DOID:8586 +name: dysplasia of cervix +alt_id: DOID:8585 +alt_id: DOID:8796 +synonym: "cervical dysplasia" EXACT [MTH:NOCODE] +synonym: "cervical dysplasia NOS" EXACT [MTHICD9_2006:622.10] +synonym: "cervical intraepithelial neoplasia grade 1" EXACT [MTH:NOCODE, SNOMEDCT_2005_07_31:198342006] +synonym: "cervical intraepithelial neoplasia grade 1 (disorder)" EXACT [SNOMEDCT_2005_07_31:285836003] +synonym: "cervical intraepithelial neoplasia grade 2" EXACT [MTH:NOCODE, SNOMEDCT_2005_07_31:198343001] +synonym: "cervical intraepithelial neoplasia grade 2 (disorder)" EXACT [SNOMEDCT_2005_07_31:285838002] +synonym: "cervical intraepithelial neoplasia I [CIN I]" EXACT [MTHICD9_2006:622.11] +synonym: "Cervix Dysplasia" EXACT [MTH:167] +synonym: "Dysplasia of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:73391008] +synonym: "Dysplasia of cervix (uteri)" EXACT [ICD9CM_2006:622.1] +synonym: "Dysplasia of cervix NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:198345008] +synonym: "Dysplasia of cervix uteri" EXACT [SNOMEDCT_2005_07_31:156012002] +synonym: "Dysplasia of cervix uteri" EXACT [MTHICD9_2006:622.1] +synonym: "Dysplasia of cervix uteri" EXACT [SNOMEDCT_2005_07_31:198340003] +synonym: "Dysplasia of cervix uteri (disorder)" EXACT [SNOMEDCT_2005_07_31:270495002] +synonym: "Low-grade Intraepithelial Neoplasia of Cervix Uteri" EXACT [NCI2004_11_17:C4630] +synonym: "Mild dysplasia of cervix" EXACT [] +synonym: "Moderate dysplasia of cervix" EXACT [] +synonym: "Moderate squamous Dysplasia of the Cervix" EXACT [NCI2004_11_17:C40198] +is_obsolete: true + +[Term] +id: DOID:8587 +name: Burkitt's tumor or lymphoma extranodal and solid organ sites +is_obsolete: true + +[Term] +id: DOID:859 +name: holocarboxylase synthetase deficiency +def: "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:15307001] +synonym: "Multiple carboxylase deficiency - neonatal onset (disorder)" EXACT [SNOMEDCT_2005_07_31:360367001] +xref: ICD10CM:D81.818 +xref: MSH:D028922 +xref: NCI:C98842 +xref: NCI:C99247 +xref: OMIM:253270 +xref: SNOMEDCT_US_2015_03_01:15307001 +xref: SNOMEDCT_US_2015_03_01:237956003 +xref: SNOMEDCT_US_2015_03_01:360367001 +xref: SNOMEDCT_US_2015_03_01:360369003 +xref: UMLS_CUI:C0268581 +is_a: DOID:857 ! multiple carboxylase deficiency + +[Term] +id: DOID:8590 +name: acute vascular insufficiency of intestine +synonym: "acute gastrointestinal tract vascular insuffic. (disorder)" EXACT [SNOMEDCT_2005_07_31:266519001] +synonym: "acute GIT vascular insuffic." EXACT [SNOMEDCT_2005_07_31:155766009] +synonym: "acute intestinal Ischemia" EXACT [NCI2004_11_17:C34356] +synonym: "acute intestinal vascular insufficiency" EXACT [SNOMEDCT_2005_07_31:196998009] +xref: ICD9CM:557.0 +xref: NCI:C34356 +xref: SNOMEDCT_US_2015_03_01:196998009 +xref: SNOMEDCT_US_2015_03_01:197004007 +xref: SNOMEDCT_US_2015_03_01:91489000 +xref: UMLS_CUI:C0001363 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:8592 +name: reticulosarcoma involving lymph nodes of inguinal region and lower limb +synonym: "Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:95229009] +synonym: "Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188493000] +is_obsolete: true + +[Term] +id: DOID:8593 +name: chronic monocytic leukemia +alt_id: DOID:9194 +xref: ICD10CM:C93.1 +xref: ICD9CM:206.1 +xref: MSH:D007951 +xref: NCI:C34774 +xref: SNOMEDCT_US_2015_03_01:154595006 +xref: SNOMEDCT_US_2015_03_01:188745007 +xref: SNOMEDCT_US_2015_03_01:190060004 +xref: SNOMEDCT_US_2015_03_01:37810007 +xref: SNOMEDCT_US_2015_03_01:46236001 +xref: SNOMEDCT_US_2015_03_01:92816008 +xref: UMLS_CUI:C0023466 +is_a: DOID:8527 ! monocytic leukemia + +[Term] +id: DOID:8596 +name: scarlet fever +alt_id: DOID:8597 +def: "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever] +synonym: "Scarlatina" EXACT [MTHICD9_2006:034.1] +xref: ICD10CM:A38 +xref: ICD10CM:A38.9 +xref: ICD9CM:034 +xref: ICD9CM:034.1 +xref: MSH:D012541 +xref: NCI:C94575 +xref: SNOMEDCT_US_2015_03_01:154301006 +xref: SNOMEDCT_US_2015_03_01:154303009 +xref: SNOMEDCT_US_2015_03_01:154304003 +xref: SNOMEDCT_US_2015_03_01:186357007 +xref: SNOMEDCT_US_2015_03_01:186362008 +xref: SNOMEDCT_US_2015_03_01:30242009 +xref: UMLS_CUI:C0036285 +xref: UMLS_CUI:C0343487 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:8598 +name: mild degree recurrent episode manic disorder +is_obsolete: true + +[Term] +id: DOID:8599 +name: Sezary's disease involving lymph nodes of inguinal region and lower limb +synonym: "Sezary's disease of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188634000] +synonym: "Szary's disease of lymph nodes of inguinal region and/or lower limb" EXACT [SNOMEDCT_2005_07_31:95261008] +is_obsolete: true + +[Term] +id: DOID:8600 +name: carcinoid syndrome +synonym: "Excessive serotonin secretion" EXACT [SNOMEDCT_2005_07_31:190580007] +synonym: "Hormonal tumour" RELATED [SNOMEDCT_2005_07_31:109950000] +synonym: "Hormone secretion by carcinoid tumors" EXACT [MTHICD9_2006:259.2] +is_obsolete: true + +[Term] +id: DOID:8601 +name: upper gum cancer +synonym: "malignant tumor of upper gingiva" EXACT [MTH:U001011] +synonym: "malignant tumor of upper gingiva (disorder)" EXACT [SNOMEDCT_2005_07_31:363383000] +synonym: "malignant tumour of upper gum" EXACT [SNOMEDCT_2005_07_31:94114005] +xref: ICD10CM:C03.0 +xref: ICD9CM:143.0 +xref: SNOMEDCT_US_2015_03_01:363383000 +xref: SNOMEDCT_US_2015_03_01:94114005 +xref: UMLS_CUI:C0153365 +is_a: DOID:8602 ! gum cancer + +[Term] +id: DOID:8602 +name: gum cancer +alt_id: DOID:8734 +synonym: "malignant Gingival tumor" EXACT [NCI2004_11_17:C9317] +synonym: "malignant neoplasm of gum" EXACT [ICD9CM_2006:143] +synonym: "malignant neoplasm of gum NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187651005] +synonym: "malignant neoplasm of other sites of gum" EXACT [] +synonym: "malignant neoplasm of other sites of gum (disorder)" EXACT [SNOMEDCT_2005_07_31:187650006] +synonym: "malignant tumor of gum (disorder)" EXACT [SNOMEDCT_2005_07_31:363382005] +synonym: "malignant tumour of gingiva" EXACT [SNOMEDCT_2005_07_31:93819009] +xref: ICD10CM:C03 +xref: ICD10CM:C03.9 +xref: ICD9CM:143 +xref: ICD9CM:143.9 +xref: NCI:C9317 +xref: SNOMEDCT_US_2015_03_01:187651005 +xref: SNOMEDCT_US_2015_03_01:363382005 +xref: SNOMEDCT_US_2015_03_01:93819009 +xref: UMLS_CUI:C0153364 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8604 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93494007] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188560007] +is_obsolete: true + +[Term] +id: DOID:8607 +name: herpetic whitlow +def: "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes." [url:http\://en.wikipedia.org/wiki/Herpetic_whitlow] +synonym: "Herpetic felon" EXACT [MTHICD9_2006:054.6] +synonym: "Herpetic whitlow (disorder)" EXACT [SNOMEDCT_2005_07_31:43891009] +xref: ICD9CM:054.6 +xref: SNOMEDCT_US_2015_03_01:43891009 +xref: UMLS_CUI:C0153042 +is_a: DOID:8566 ! herpes simplex + +[Term] +id: DOID:8609 +name: moderate degree recurrent episode manic disease +is_obsolete: true + +[Term] +id: DOID:8611 +name: drug induced sleep disorder +is_obsolete: true + +[Term] +id: DOID:8615 +name: spontaneous abortion complicated by shock +alt_id: DOID:8889 +synonym: "spontaneous abortion complicated by shock (disorder)" EXACT [SNOMEDCT_2005_07_31:34270000] +synonym: "spontaneous abortion, unspecified, complicated by shock" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8616 +name: Peyronie's disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Induratio penis plastica" EXACT [MTHICD9_2006:607.81] +synonym: "Induratio penis plastica (disorder)" EXACT [SNOMEDCT_2005_07_31:1335005] +synonym: "Peyronie disease" EXACT [MTH:NOCODE] +synonym: "Peyronie's Fibromatosis" EXACT [NCI2004_11_17:C3316] +xref: ICD10CM:N48.6 +xref: ICD9CM:607.85 +xref: MSH:D010411 +xref: NCI:C3316 +xref: OMIM:171000 +xref: SNOMEDCT_US_2015_03_01:1335005 +xref: SNOMEDCT_US_2015_03_01:155931002 +xref: SNOMEDCT_US_2015_03_01:198028006 +xref: UMLS_CUI:C0030848 +is_a: DOID:1529 ! penile disease + +[Term] +id: DOID:8618 +name: oral cavity cancer +alt_id: DOID:0050627 +alt_id: DOID:8617 +alt_id: DOID:9049 +alt_id: DOID:9055 +def: "A gastrointestinal system cancer that is located_in the oral cavity." [url:http\://en.wikipedia.org/wiki/Oral_cancer] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of anterior portion of floor of mouth" EXACT [] +synonym: "malignant neoplasm of floor of mouth" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of lateral floor of mouth" EXACT [MTH:U001372] +synonym: "malignant neoplasm of lateral portion of floor of mouth" EXACT [] +synonym: "malignant tumor of anterior floor of mouth (disorder)" EXACT [SNOMEDCT_2005_07_31:187652003] +synonym: "malignant tumor of lateral floor of mouth (disorder)" EXACT [SNOMEDCT_2005_07_31:187653008] +synonym: "malignant tumor of the Floor of the Mouth" EXACT [NCI2004_11_17:C9318] +xref: ICD10CM:C04 +xref: ICD10CM:C04.0 +xref: ICD10CM:C04.1 +xref: ICD10CM:C04.9 +xref: ICD9CM:144 +xref: ICD9CM:144.0 +xref: ICD9CM:144.1 +xref: ICD9CM:144.9 +xref: NCI:C9318 +xref: SNOMEDCT_US_2015_03_01:187652003 +xref: SNOMEDCT_US_2015_03_01:187653008 +xref: SNOMEDCT_US_2015_03_01:187656000 +xref: SNOMEDCT_US_2015_03_01:363385007 +xref: SNOMEDCT_US_2015_03_01:93672006 +xref: SNOMEDCT_US_2015_03_01:93802007 +xref: SNOMEDCT_US_2015_03_01:93860002 +xref: UMLS_CUI:C0153368 +xref: UMLS_CUI:C0153369 +xref: UMLS_CUI:C0496758 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:8619 +name: recurrent hypersomnia +def: "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness." [url:http\://en.wikipedia.org/wiki/Hypersomnia] +synonym: "primary recurrent hypersomnia" EXACT [] +xref: ICD10CM:G47.13 +xref: ICD9CM:327.13 +xref: MSH:D006970 +xref: SNOMEDCT_US_2015_03_01:426451004 +xref: UMLS_CUI:C0751226 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:862 +name: diplegia of upper limb +synonym: "Diplegia of upper limbs (disorder)" EXACT [SNOMEDCT_2005_07_31:54099005] +synonym: "Diplegia, upper" EXACT [MTHICD9_2006:344.2] +xref: ICD10CM:G83.0 +xref: ICD9CM:344.2 +xref: SNOMEDCT_US_2015_03_01:192968004 +xref: SNOMEDCT_US_2015_03_01:54099005 +xref: UMLS_CUI:C0154701 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:8620 +name: reticulosarcoma involving intrapelvic lymph nodes +synonym: "Reticulosarcoma of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188494006] +synonym: "Reticulosarcoma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95225003] +is_obsolete: true + +[Term] +id: DOID:8622 +name: measles +alt_id: DOID:8621 +alt_id: DOID:8963 +alt_id: DOID:9112 +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash." [url:http\://en.wikipedia.org/wiki/Measles] +synonym: "morbilli" EXACT [CSP2005:3100-0554] +xref: ICD10CM:B05 +xref: ICD10CM:B05.9 +xref: ICD9CM:055 +xref: MSH:D008457 +xref: NCI:C96406 +xref: SNOMEDCT_US_2015_03_01:14189004 +xref: SNOMEDCT_US_2015_03_01:154338006 +xref: UMLS_CUI:C0025007 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8623 +name: adhesions and disruptions of pupillary membranes +is_obsolete: true + +[Term] +id: DOID:8625 +name: postherpetic trigeminal neuralgia +def: "A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain." [url:http\://www.jmedicalcasereports.com/content/3/1/7813, url:http\://www.merckmanuals.com/home/sec06/ch096/ch096e.html] +synonym: "Post-herpetic trigeminal neuralgia" EXACT [SNOMEDCT_2005_07_31:186519008] +synonym: "Post-herpetic trigeminal neuralgia (disorder)" EXACT [SNOMEDCT_2005_07_31:17974002] +is_obsolete: true + +[Term] +id: DOID:8626 +name: Sezary's disease involving spleen +synonym: "Sezary's disease of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188636003] +synonym: "Szary's disease of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:95263006] +is_obsolete: true + +[Term] +id: DOID:8627 +name: Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188590000] +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93489007] +synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8628 +name: Hodgkin's lymphoma, lymphocytic depletion +alt_id: DOID:9047 +synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [SNOMEDCT_2005_07_31:112687003] +synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [] +synonym: "Hodgkin's disease, lymphocytic depletion (disorder)" EXACT [SNOMEDCT_2005_07_31:118610003] +synonym: "Hodgkin's disease, lymphocytic depletion NOS" EXACT [MTHICD9_2006:201.7] +synonym: "Hodgkin's disease, lymphocytic depletion NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188594009] +synonym: "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134177009] +synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites" EXACT [] +synonym: "Hodgkin's lymphocytic depletion of unspecified site (disorder)" EXACT [SNOMEDCT_2005_07_31:188584004] +synonym: "Lymphocyte-Depleted Classical Hodgkin Lymphoma" EXACT [NCI2004_11_17:C9283] +xref: ICD10CM:C81.3 +xref: ICD9CM:201.7 +xref: MSH:D006689 +xref: NCI:C9283 +xref: SNOMEDCT_US_2015_03_01:112687003 +xref: SNOMEDCT_US_2015_03_01:118610003 +xref: SNOMEDCT_US_2015_03_01:134177009 +xref: SNOMEDCT_US_2015_03_01:188584004 +xref: SNOMEDCT_US_2015_03_01:188594009 +xref: UMLS_CUI:C0152267 +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:863 +name: nervous system disease +def: "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system] +xref: ICD10CM:G00-G99 +xref: ICD10CM:G98 +xref: ICD10CM:G98.8 +xref: ICD9CM:349.9 +xref: MSH:D009422 +xref: NCI:C26835 +xref: SNOMEDCT_US_2015_03_01:118940003 +xref: SNOMEDCT_US_2015_03_01:154981003 +xref: SNOMEDCT_US_2015_03_01:155262005 +xref: SNOMEDCT_US_2015_03_01:192641002 +xref: SNOMEDCT_US_2015_03_01:267679005 +xref: SNOMEDCT_US_2015_03_01:286946008 +xref: UMLS_CUI:C0027765 +is_a: DOID:7 ! disease of anatomical entity + +[Term] +id: DOID:8630 +name: upper lip cancer +alt_id: DOID:8984 +xref: ICD10CM:C00.0 +xref: ICD10CM:C00.3 +xref: ICD9CM:140.0 +xref: ICD9CM:140.3 +xref: SNOMEDCT_US_2015_03_01:187600004 +xref: SNOMEDCT_US_2015_03_01:187601000 +xref: SNOMEDCT_US_2015_03_01:187602007 +xref: SNOMEDCT_US_2015_03_01:187606005 +xref: SNOMEDCT_US_2015_03_01:187607001 +xref: SNOMEDCT_US_2015_03_01:187609003 +xref: SNOMEDCT_US_2015_03_01:187610008 +xref: SNOMEDCT_US_2015_03_01:187611007 +xref: SNOMEDCT_US_2015_03_01:363372009 +xref: SNOMEDCT_US_2015_03_01:93837005 +xref: SNOMEDCT_US_2015_03_01:94137004 +xref: UMLS_CUI:C0432579 +xref: UMLS_CUI:C0474962 +is_a: DOID:8564 ! lip cancer + +[Term] +id: DOID:8632 +name: Kaposi's sarcoma +alt_id: DOID:12761 +alt_id: DOID:12762 +alt_id: DOID:12764 +alt_id: DOID:12766 +alt_id: DOID:12767 +alt_id: DOID:12768 +alt_id: DOID:12770 +alt_id: DOID:12771 +alt_id: DOID:12772 +alt_id: DOID:12774 +alt_id: DOID:12775 +alt_id: DOID:12776 +alt_id: DOID:12777 +alt_id: DOID:12778 +alt_id: DOID:6480 +alt_id: DOID:7239 +alt_id: DOID:8631 +def: "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)." [url:http\://cancerres.aacrjournals.org/content/58/8/1599.full.pdf, url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [] +synonym: "anal Kaposi's sarcoma" EXACT [] +synonym: "cardiac Kaposi's sarcoma" EXACT [] +synonym: "central nervous system Kaposi's sarcoma" EXACT [] +synonym: "Conjunctival Kaposi's sarcoma" EXACT [NCI2004_11_17:C4578] +synonym: "conjunctival Kaposi's sarcoma" EXACT [] +synonym: "Corneal Kaposi's sarcoma" EXACT [NCI2004_11_17:C4579] +synonym: "corneal Kaposi's sarcoma" EXACT [] +synonym: "Cutaneous Kaposi's sarcoma" EXACT [NCI2004_11_17:C3550] +synonym: "cutaneous Kaposi's sarcoma" EXACT [] +synonym: "esophageal Kaposi's sarcoma" EXACT [] +synonym: "gallbladder Kaposi's sarcoma" EXACT [] +synonym: "gastric Kaposi's sarcoma" EXACT [] +synonym: "intestinal Kaposi's sarcoma" EXACT [] +synonym: "Kaposi sarcoma" EXACT [] +synonym: "Kaposi's sarcoma of anus" EXACT [NCI2004_11_17:C5602] +synonym: "Kaposi's sarcoma of central nervous system" EXACT [] +synonym: "Kaposi's sarcoma of conjunctiva (disorder)" EXACT [SNOMEDCT_2005_07_31:255114007] +synonym: "Kaposi's sarcoma of cornea (disorder)" EXACT [SNOMEDCT_2005_07_31:255115008] +synonym: "Kaposi's sarcoma of esophagus" EXACT [NCI2004_11_17:C5706] +synonym: "Kaposi's sarcoma of gastrointestinal sites" EXACT [] +synonym: "Kaposi's sarcoma of Heart" EXACT [NCI2004_11_17:C5363] +synonym: "Kaposi's sarcoma of lung (disorder)" EXACT [SNOMEDCT_2005_07_31:109390005] +synonym: "Kaposi's sarcoma of lymph nodes" EXACT [SNOMEDCT_2005_07_31:188775002] +synonym: "Kaposi's sarcoma of lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:109391009] +synonym: "Kaposi's sarcoma of palate (disorder)" EXACT [SNOMEDCT_2005_07_31:109388009] +synonym: "Kaposi's sarcoma of penis" EXACT [NCI2004_11_17:C6377] +synonym: "Kaposi's sarcoma of skin" EXACT [SNOMEDCT_2005_07_31:188144002] +synonym: "Kaposi's sarcoma of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:109386008] +synonym: "Kaposi's sarcoma of soft tissue (disorder)" EXACT [SNOMEDCT_2005_07_31:188029000] +synonym: "Kaposi's sarcoma of soft tissues (disorder)" EXACT [SNOMEDCT_2005_07_31:109387004] +synonym: "Kaposi's sarcoma of the CNS" EXACT [NCI2004_11_17:C7006] +synonym: "Kaposi's sarcoma of the gallbladder" EXACT [NCI2004_11_17:C5842] +synonym: "Kaposi's sarcoma of the prostate" EXACT [NCI2004_11_17:C5523] +synonym: "Kaposi's sarcoma, lung" EXACT [ICD9CM_2006:176.4] +synonym: "Kaposi's sarcoma, skin" EXACT [ICD9CM_2006:176.0] +synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [] +synonym: "lymph node Kaposi's sarcoma" EXACT [] +synonym: "lymphadenopathic Kaposi's sarcoma" EXACT [] +synonym: "Palate Kaposi's sarcoma" EXACT [NCI2004_11_17:C6749] +synonym: "palate Kaposi's sarcoma" EXACT [] +synonym: "penis Kaposi's sarcoma" EXACT [] +synonym: "prostate Kaposi's sarcoma" EXACT [] +synonym: "pulmonary Kaposi's sarcoma" EXACT [NCI2004_11_17:C3551] +synonym: "soft tissue Kaposi's sarcoma" EXACT [] +xref: ICD10CM:C46 +xref: ICD10CM:C46.0 +xref: ICD10CM:C46.1 +xref: ICD10CM:C46.2 +xref: ICD10CM:C46.3 +xref: ICD10CM:C46.4 +xref: ICD10CM:C46.5 +xref: ICD10CM:C46.9 +xref: ICD9CM:176 +xref: ICD9CM:176.0 +xref: ICD9CM:176.1 +xref: ICD9CM:176.2 +xref: ICD9CM:176.3 +xref: ICD9CM:176.4 +xref: ICD9CM:176.5 +xref: ICD9CM:176.9 +xref: MSH:D012514 +xref: NCI:C27500 +xref: NCI:C3550 +xref: NCI:C3551 +xref: NCI:C4578 +xref: NCI:C4579 +xref: NCI:C5363 +xref: NCI:C5523 +xref: NCI:C5529 +xref: NCI:C5602 +xref: NCI:C5706 +xref: NCI:C5842 +xref: NCI:C6377 +xref: NCI:C6749 +xref: NCI:C7006 +xref: NCI:C9087 +xref: OMIM:148000 +xref: SNOMEDCT_US_2015_03_01:109385007 +xref: SNOMEDCT_US_2015_03_01:109386008 +xref: SNOMEDCT_US_2015_03_01:109387004 +xref: SNOMEDCT_US_2015_03_01:109388009 +xref: SNOMEDCT_US_2015_03_01:109390005 +xref: SNOMEDCT_US_2015_03_01:109391009 +xref: SNOMEDCT_US_2015_03_01:154604006 +xref: SNOMEDCT_US_2015_03_01:188029000 +xref: SNOMEDCT_US_2015_03_01:188144002 +xref: SNOMEDCT_US_2015_03_01:188483007 +xref: SNOMEDCT_US_2015_03_01:188775002 +xref: SNOMEDCT_US_2015_03_01:190112000 +xref: SNOMEDCT_US_2015_03_01:255114007 +xref: SNOMEDCT_US_2015_03_01:255115008 +xref: SNOMEDCT_US_2015_03_01:49937004 +xref: UMLS_CUI:C0036220 +xref: UMLS_CUI:C0153560 +xref: UMLS_CUI:C0153561 +xref: UMLS_CUI:C0153562 +xref: UMLS_CUI:C0153563 +xref: UMLS_CUI:C0153564 +xref: UMLS_CUI:C0153565 +xref: UMLS_CUI:C0346935 +xref: UMLS_CUI:C0346936 +xref: UMLS_CUI:C1332265 +xref: UMLS_CUI:C1332847 +xref: UMLS_CUI:C1333453 +xref: UMLS_CUI:C1333744 +xref: UMLS_CUI:C1333776 +xref: UMLS_CUI:C1334318 +xref: UMLS_CUI:C1334457 +xref: UMLS_CUI:C1335372 +xref: UMLS_CUI:C1335509 +is_a: DOID:201 ! connective tissue cancer + +[Term] +id: DOID:8633 +name: chronic intestinal vascular insufficiency +synonym: "chronic mesenteric ischemia" EXACT [MTH:NOCODE] +synonym: "CMI - chronic mesenteric ischaemia" EXACT [SNOMEDCT_2005_07_31:241154007] +xref: ICD9CM:557.1 +xref: SNOMEDCT_US_2015_03_01:111354009 +xref: SNOMEDCT_US_2015_03_01:197005008 +xref: SNOMEDCT_US_2015_03_01:197008005 +xref: SNOMEDCT_US_2015_03_01:241154007 +xref: SNOMEDCT_US_2015_03_01:266448009 +xref: UMLS_CUI:C0311262 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:8634 +name: prostate carcinoma in situ +synonym: "carcinoma in situ of prostate (disorder)" EXACT [SNOMEDCT_2005_07_31:92691004] +synonym: "grade III PIN" EXACT [NCI2004_11_17:C3642] +synonym: "PIN III" EXACT [SNOMEDCT_2005_07_31:128640002] +xref: ICD10CM:D07.5 +xref: ICD9CM:233.4 +xref: NCI:C3642 +xref: SNOMEDCT_US_2015_03_01:128640002 +xref: SNOMEDCT_US_2015_03_01:92691004 +xref: UMLS_CUI:C0154088 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8635 +name: uvula cancer +synonym: "malignant tumor of uvula (disorder)" EXACT [SNOMEDCT_2005_07_31:363389001] +synonym: "malignant Uvular tumor" EXACT [NCI2004_11_17:C35177] +xref: ICD10CM:C05.2 +xref: ICD9CM:145.4 +xref: NCI:C35177 +xref: SNOMEDCT_US_2015_03_01:363389001 +xref: SNOMEDCT_US_2015_03_01:94129007 +xref: UMLS_CUI:C0153377 +is_a: DOID:8578 ! soft palate cancer + +[Term] +id: DOID:8638 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes" EXACT [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93493001] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188556009] +is_obsolete: true + +[Term] +id: DOID:8639 +name: alcohol withdrawal delirium +synonym: "Alcohol Withdrawal Delirium" EXACT [MTH:NOCODE] +synonym: "Alcohol withdrawal delirium (disorder)" EXACT [SNOMEDCT_2005_07_31:8635005] +synonym: "Alcoholic delirium" EXACT [MTHICD9_2006:291.0] +synonym: "Delirium tremens" EXACT [SNOMEDCT_2005_07_31:154853008] +synonym: "delirium tremens" EXACT [CSP2005:0080-9468] +synonym: "Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)" EXACT [SNOMEDCT_2005_07_31:192211007] +is_obsolete: true + +[Term] +id: DOID:864 +name: phlebitis +def: "A vein disease that is characterized by inflammation of a vein." [url:http\://en.wikipedia.org/wiki/Phlebitis] +xref: ICD10CM:I80 +xref: MSH:D010689 +xref: NCI:C38003 +xref: SNOMEDCT_US_2015_03_01:195432009 +xref: SNOMEDCT_US_2015_03_01:61599003 +xref: UMLS_CUI:C0031542 +is_a: DOID:866 ! vein disease + +[Term] +id: DOID:8640 +name: reticulosarcoma involving lymph nodes of multiple sites +synonym: "Reticulosarcoma of lymph nodes of multiple sites" EXACT [SNOMEDCT_2005_07_31:188496008] +synonym: "Reticulosarcoma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:95230004] +is_obsolete: true + +[Term] +id: DOID:8641 +name: Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188527009] +synonym: "Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93541001] +is_obsolete: true + +[Term] +id: DOID:8642 +name: Hodgkin's paragranuloma +alt_id: DOID:8951 +alt_id: DOID:8972 +synonym: "Hodgkin paragranuloma" EXACT [] +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:8643 +name: duodenitis +alt_id: DOID:8897 +alt_id: DOID:8983 +synonym: "Hemorrhagic duodenitis" EXACT [MTH:NOCODE] +xref: ICD10CM:K29.8 +xref: ICD9CM:535.6 +xref: MSH:D004382 +xref: NCI:C94409 +xref: SNOMEDCT_US_2015_03_01:155715004 +xref: SNOMEDCT_US_2015_03_01:72007001 +xref: UMLS_CUI:C0013298 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:8644 +name: gastroduodenitis +alt_id: DOID:8571 +alt_id: DOID:8572 +alt_id: DOID:8759 +alt_id: DOID:8776 +alt_id: DOID:8777 +alt_id: DOID:9223 +xref: ICD9CM:535.4 +xref: SNOMEDCT_US_2015_03_01:196737009 +xref: SNOMEDCT_US_2015_03_01:196742001 +xref: UMLS_CUI:C0029800 +is_a: DOID:750 ! peptic ulcer disease + +[Term] +id: DOID:8645 +name: subacute delirium +synonym: "Subacute delirium (disorder)" EXACT [SNOMEDCT_2005_07_31:191507002] +xref: ICD9CM:293.1 +xref: MSH:D003693 +xref: SNOMEDCT_US_2015_03_01:191507002 +xref: SNOMEDCT_US_2015_03_01:191513006 +xref: UMLS_CUI:C0154333 +is_a: DOID:8646 ! substance-induced psychosis + +[Term] +id: DOID:8646 +name: substance-induced psychosis +xref: ICD9CM:293.89 +xref: UMLS_CUI:C0154334 +is_a: DOID:2468 ! psychotic disorder + +[Term] +id: DOID:8649 +name: tongue cancer +alt_id: DOID:8648 +alt_id: DOID:8779 +alt_id: DOID:8900 +alt_id: DOID:8940 +alt_id: DOID:8999 +alt_id: DOID:9058 +alt_id: DOID:9068 +alt_id: DOID:9196 +synonym: "malignant neoplasm of anterior 2/3 of tongue unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187643007] +synonym: "malignant neoplasm of anterior two-thirds of tongue, part unspecified" EXACT [] +synonym: "malignant neoplasm of base of tongue" EXACT [] +synonym: "malignant neoplasm of border of tongue" EXACT [MTH:U001371] +synonym: "malignant neoplasm of dorsal surface of tongue" EXACT [] +synonym: "malignant neoplasm of dorsal tongue NOS" EXACT [MTHICD9_2006:141.1] +synonym: "malignant neoplasm of dorsum of tongue NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187636001] +synonym: "malignant neoplasm of fixed part of tongue NOS" EXACT [MTHICD9_2006:141.0] +synonym: "malignant neoplasm of fixed part of tongue NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187632004] +synonym: "malignant neoplasm of junctional zone of tongue" EXACT [] +synonym: "malignant neoplasm of lingual tonsil" EXACT [] +synonym: "malignant neoplasm of mobile part of tongue NOS" EXACT [MTHICD9_2006:141.4] +synonym: "malignant neoplasm of other sites of tongue" EXACT [] +synonym: "malignant neoplasm of other sites of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:187645000] +synonym: "malignant neoplasm of tip and lateral border of tongue" EXACT [] +synonym: "malignant neoplasm of tip and/or lateral border of tongue" EXACT [SNOMEDCT_2005_07_31:371974006, SNOMEDCT_2005_07_31:94100005] +synonym: "malignant neoplasm of tongue" EXACT [ICD9CM_2006:141] +synonym: "malignant neoplasm of tongue" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of tongue NOS" EXACT [MTHICD9_2006:141.9] +synonym: "malignant neoplasm of tongue NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187646004] +synonym: "malignant neoplasm of tongue, NOS" EXACT [SNOMEDCT_2005_07_31:94101009] +synonym: "malignant neoplasm of tongue, tip and lateral border (disorder)" EXACT [SNOMEDCT_2005_07_31:187637005] +synonym: "malignant neoplasm of ventral surface of tongue" EXACT [] +synonym: "malignant neoplasm of ventral tongue surface NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187642002] +synonym: "malignant tumor of anterior two-thirds of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:363360003] +synonym: "malignant tumor of base of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:363376007] +synonym: "malignant tumor of lingual tonsil" EXACT [MTH:U001010] +synonym: "malignant tumor of lingual tonsil (disorder)" EXACT [SNOMEDCT_2005_07_31:363377003] +synonym: "malignant tumor of mobile part of tongue" EXACT [SNOMEDCT_2005_07_31:93673001] +synonym: "malignant tumor of Posterior Tongue" EXACT [NCI2004_11_17:C3524] +synonym: "malignant tumor of tongue (disorder)" EXACT [SNOMEDCT_2005_07_31:363375006] +synonym: "Tongue neoplasm malignant stage Unspecified" EXACT [NCI2004_11_17:C9345] +xref: ICD10CM:C01 +xref: ICD10CM:C02.0 +xref: ICD10CM:C02.1 +xref: ICD10CM:C02.2 +xref: ICD10CM:C02.4 +xref: ICD10CM:C02.9 +xref: ICD9CM:141 +xref: ICD9CM:141.0 +xref: ICD9CM:141.1 +xref: ICD9CM:141.2 +xref: ICD9CM:141.3 +xref: ICD9CM:141.5 +xref: ICD9CM:141.6 +xref: ICD9CM:141.9 +xref: MSH:D014062 +xref: NCI:C3524 +xref: NCI:C9345 +xref: SNOMEDCT_US_2015_03_01:187632004 +xref: SNOMEDCT_US_2015_03_01:187633009 +xref: SNOMEDCT_US_2015_03_01:187636001 +xref: SNOMEDCT_US_2015_03_01:187637005 +xref: SNOMEDCT_US_2015_03_01:187638000 +xref: SNOMEDCT_US_2015_03_01:187642002 +xref: SNOMEDCT_US_2015_03_01:187644001 +xref: SNOMEDCT_US_2015_03_01:187646004 +xref: SNOMEDCT_US_2015_03_01:363375006 +xref: SNOMEDCT_US_2015_03_01:363376007 +xref: SNOMEDCT_US_2015_03_01:363377003 +xref: SNOMEDCT_US_2015_03_01:371974006 +xref: SNOMEDCT_US_2015_03_01:93687001 +xref: SNOMEDCT_US_2015_03_01:93773005 +xref: SNOMEDCT_US_2015_03_01:93848003 +xref: SNOMEDCT_US_2015_03_01:93868009 +xref: SNOMEDCT_US_2015_03_01:94100005 +xref: SNOMEDCT_US_2015_03_01:94101009 +xref: SNOMEDCT_US_2015_03_01:94134006 +xref: UMLS_CUI:C0153349 +xref: UMLS_CUI:C0153350 +xref: UMLS_CUI:C0153351 +xref: UMLS_CUI:C0153356 +xref: UMLS_CUI:C0474963 +xref: UMLS_CUI:C0496755 +xref: UMLS_CUI:C0684333 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:865 +name: vasculitis +def: "A vascular disease that is characterized by inflammation of the blood vessels." [url:http\://en.wikipedia.org/wiki/Vasculitis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/vas/, url:http\://www.nlm.nih.gov/medlineplus/vasculitis.html] +synonym: "Angiitis" EXACT [SNOMEDCT_2005_07_31:266325003] +xref: MSH:D014657 +xref: NCI:C26912 +xref: SNOMEDCT_US_2015_03_01:195375002 +xref: SNOMEDCT_US_2015_03_01:266325003 +xref: SNOMEDCT_US_2015_03_01:31996006 +xref: SNOMEDCT_US_2015_03_01:393589007 +xref: UMLS_CUI:C0042384 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:8650 +name: Hodgkin's granuloma involving intrapelvic lymph nodes +synonym: "Hodgkin's granuloma of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188539001] +synonym: "Hodgkin's granuloma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93530003] +is_obsolete: true + +[Term] +id: DOID:8651 +name: Hodgkin's granuloma +alt_id: DOID:9102 +synonym: "Hodgkin granuloma" EXACT [] +synonym: "Hodgkin's Granuloma" EXACT [NCI2004_11_17:C6914] +synonym: "Hodgkin's granuloma of unspecified site (disorder)" EXACT [SNOMEDCT_2005_07_31:188533000] +synonym: "Hodgkin's granuloma, unspecified site, extranodal and solid organ sites" EXACT [] +xref: ICD10CM:C81 +xref: ICD10CM:C81.0 +xref: ICD10CM:C81.2 +xref: ICD10CM:C81.3 +xref: ICD10CM:C81.4 +xref: ICD10CM:C81.9 +xref: ICD9CM:201 +xref: ICD9CM:201.0 +xref: ICD9CM:201.1 +xref: ICD9CM:201.2 +xref: ICD9CM:201.4 +xref: ICD9CM:201.6 +xref: ICD9CM:201.7 +xref: ICD9CM:201.9 +xref: MSH:D006689 +xref: NCI:C26956 +xref: NCI:C3517 +xref: NCI:C6913 +xref: NCI:C6914 +xref: NCI:C7258 +xref: NCI:C7702 +xref: NCI:C9283 +xref: NCI:C9357 +xref: SNOMEDCT_US_2015_03_01:112687003 +xref: SNOMEDCT_US_2015_03_01:118599009 +xref: SNOMEDCT_US_2015_03_01:118602004 +xref: SNOMEDCT_US_2015_03_01:118605002 +xref: SNOMEDCT_US_2015_03_01:118606001 +xref: SNOMEDCT_US_2015_03_01:118607005 +xref: SNOMEDCT_US_2015_03_01:118609008 +xref: SNOMEDCT_US_2015_03_01:118610003 +xref: SNOMEDCT_US_2015_03_01:128799007 +xref: SNOMEDCT_US_2015_03_01:134177009 +xref: SNOMEDCT_US_2015_03_01:14537002 +xref: SNOMEDCT_US_2015_03_01:154582001 +xref: SNOMEDCT_US_2015_03_01:188521005 +xref: SNOMEDCT_US_2015_03_01:188522003 +xref: SNOMEDCT_US_2015_03_01:188532005 +xref: SNOMEDCT_US_2015_03_01:188533000 +xref: SNOMEDCT_US_2015_03_01:188542007 +xref: SNOMEDCT_US_2015_03_01:188543002 +xref: SNOMEDCT_US_2015_03_01:188552006 +xref: SNOMEDCT_US_2015_03_01:188553001 +xref: SNOMEDCT_US_2015_03_01:188563009 +xref: SNOMEDCT_US_2015_03_01:188574000 +xref: SNOMEDCT_US_2015_03_01:188583005 +xref: SNOMEDCT_US_2015_03_01:188584004 +xref: SNOMEDCT_US_2015_03_01:188594009 +xref: SNOMEDCT_US_2015_03_01:188595005 +xref: SNOMEDCT_US_2015_03_01:188596006 +xref: SNOMEDCT_US_2015_03_01:188605006 +xref: SNOMEDCT_US_2015_03_01:189987006 +xref: SNOMEDCT_US_2015_03_01:189988001 +xref: SNOMEDCT_US_2015_03_01:189991001 +xref: SNOMEDCT_US_2015_03_01:189992008 +xref: SNOMEDCT_US_2015_03_01:269509006 +xref: SNOMEDCT_US_2015_03_01:309831004 +xref: SNOMEDCT_US_2015_03_01:41529000 +xref: SNOMEDCT_US_2015_03_01:46923007 +xref: SNOMEDCT_US_2015_03_01:52337003 +xref: SNOMEDCT_US_2015_03_01:59668005 +xref: SNOMEDCT_US_2015_03_01:70600005 +xref: SNOMEDCT_US_2015_03_01:74189002 +xref: UMLS_CUI:C0019829 +xref: UMLS_CUI:C0152266 +xref: UMLS_CUI:C0152267 +xref: UMLS_CUI:C0220597 +xref: UMLS_CUI:C1266194 +xref: UMLS_CUI:C1334968 +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:8653 +name: Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes +synonym: "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93504002] +synonym: "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188576003] +synonym: "Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8654 +name: Hodgkin's lymphoma, mixed cellularity +synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [SNOMEDCT_2005_07_31:41529000] +synonym: "Hodgkin's disease, mixed cellularity" RELATED [] +synonym: "Hodgkin's disease, mixed cellularity (disorder)" EXACT [SNOMEDCT_2005_07_31:118609008] +synonym: "Hodgkin's disease, mixed cellularity NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188583005] +synonym: "Hodgkin's disease, mixed cellularity of unspecified site (disorder)" EXACT [SNOMEDCT_2005_07_31:188574000] +synonym: "MCHL" EXACT [NCI2004_11_17:C3517] +xref: ICD10CM:C81.2 +xref: ICD9CM:201.6 +xref: MSH:D006689 +xref: NCI:C3517 +xref: SNOMEDCT_US_2015_03_01:118609008 +xref: SNOMEDCT_US_2015_03_01:188574000 +xref: SNOMEDCT_US_2015_03_01:188583005 +xref: SNOMEDCT_US_2015_03_01:41529000 +xref: UMLS_CUI:C0152266 +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:8656 +name: Sezary's disease involving lymph nodes of multiple sites +is_obsolete: true + +[Term] +id: DOID:8659 +name: chickenpox +alt_id: DOID:8658 +alt_id: DOID:8693 +alt_id: DOID:9243 +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." [url:http\://www.nlm.nih.gov/medlineplus/chickenpox.html] +synonym: "varicella" EXACT [CSP2005:3099-9437] +xref: ICD10CM:B01 +xref: ICD10CM:B01.9 +xref: ICD9CM:052 +xref: MSH:D002644 +xref: NCI:C97132 +xref: SNOMEDCT_US_2015_03_01:154325003 +xref: SNOMEDCT_US_2015_03_01:186508005 +xref: SNOMEDCT_US_2015_03_01:38907003 +xref: UMLS_CUI:C0008049 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:866 +name: vein disease +def: "A vascular disease that is located_in a vein." [url:http\://en.wikipedia.org/wiki/Vein#Venous_diseases] +xref: ICD10CM:I82 +xref: ICD9CM:453 +xref: SNOMEDCT_US_2015_03_01:195435006 +xref: UMLS_CUI:C0155774 +is_a: DOID:178 ! vascular disease + +[Term] +id: DOID:8660 +name: postcricoid region cancer +synonym: "malignant Postcricoid tumor" EXACT [NCI2004_11_17:C9323] +synonym: "malignant tumor of pharyngoesophageal junction" EXACT [SNOMEDCT_2005_07_31:363400004] +xref: ICD10CM:C13.0 +xref: ICD9CM:148.0 +xref: NCI:C9323 +xref: SNOMEDCT_US_2015_03_01:363400004 +xref: SNOMEDCT_US_2015_03_01:93967000 +xref: UMLS_CUI:C0496769 +is_a: DOID:8533 ! hypopharynx cancer + +[Term] +id: DOID:8661 +name: lip carcinoma in situ +xref: ICD10CM:D00.0 +xref: ICD9CM:230.0 +xref: SNOMEDCT_US_2015_03_01:189210009 +xref: SNOMEDCT_US_2015_03_01:189213006 +xref: SNOMEDCT_US_2015_03_01:271325000 +xref: UMLS_CUI:C0154058 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8662 +name: carcinoma in situ of digestive organ +alt_id: DOID:9018 +def: "A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] +synonym: "carcinoma in situ of digestive organ" EXACT [MTH:U000743] +synonym: "carcinoma in situ of digestive organ (disorder)" EXACT [SNOMEDCT_2005_07_31:109850001] +synonym: "carcinoma in situ of digestive organ NOS" EXACT [MTHICD9_2006:230.9] +synonym: "carcinoma in situ of digestive organ, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190174009] +synonym: "carcinoma in situ of digestive organs" EXACT [] +synonym: "carcinoma in situ of digestive organs NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189250007] +synonym: "carcinoma in situ of other and unspecified digestive organs (disorder)" EXACT [SNOMEDCT_2005_07_31:189248004] +is_obsolete: true + +[Term] +id: DOID:8663 +name: aryepiglottic fold cancer +synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [SNOMEDCT_2005_07_31:93829002] +synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder)" EXACT [SNOMEDCT_2005_07_31:187708004] +xref: ICD10CM:C13.1 +xref: ICD9CM:148.2 +xref: SNOMEDCT_US_2015_03_01:187708004 +xref: SNOMEDCT_US_2015_03_01:93829002 +xref: UMLS_CUI:C0153401 +is_a: DOID:8533 ! hypopharynx cancer + +[Term] +id: DOID:8664 +name: nodular lymphoma involving intrapelvic lymph nodes +synonym: "nodular lymphoma of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188614001] +synonym: "nodular lymphoma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95187002] +is_obsolete: true + +[Term] +id: DOID:8667 +name: Hodgkin's sarcoma involving intra-abdominal lymph nodes +synonym: "Hodgkin's sarcoma of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:188546005] +synonym: "Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93547002] +is_obsolete: true + +[Term] +id: DOID:867 +name: maxillary sinus cholesteatoma +def: "A cholesteatoma located_in paranasal sinus." [PMID:1503726] +xref: NCI:C35868 +xref: UMLS_CUI:C1334644 +is_a: DOID:869 ! cholesteatoma + +[Term] +id: DOID:8670 +name: eating disorder +def: "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health." [url:http\://en.wikipedia.org/wiki/Eating_disorder] +xref: ICD10CM:F50 +xref: ICD10CM:F50.9 +xref: ICD9CM:307.50 +xref: MSH:D001068 +xref: NCI:C89332 +xref: SNOMEDCT_US_2015_03_01:192444003 +xref: SNOMEDCT_US_2015_03_01:192452000 +xref: SNOMEDCT_US_2015_03_01:72366004 +xref: UMLS_CUI:C0013473 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:8672 +name: viral exanthem +alt_id: DOID:8730 +alt_id: DOID:8744 +alt_id: DOID:9213 +xref: ICD9CM:057.8 +xref: SNOMEDCT_US_2015_03_01:186577001 +xref: SNOMEDCT_US_2015_03_01:186583003 +xref: SNOMEDCT_US_2015_03_01:186585005 +xref: UMLS_CUI:C0029841 +is_a: DOID:0050486 ! exanthem + +[Term] +id: DOID:8674 +name: lymphosarcoma involving intrapelvic lymph nodes +is_obsolete: true + +[Term] +id: DOID:8675 +name: lymphosarcoma +alt_id: DOID:8967 +synonym: "Diffuse lymphoma" EXACT [MTHICD9_2006:202.8] +synonym: "malignant lymphoma (category)" EXACT [SNOMEDCT_2005_07_31:115244002] +xref: ICD10CM:C85.9 +xref: ICD9CM:200.0 +xref: ICD9CM:200.1 +xref: ICD9CM:200.7 +xref: MSH:D008228 +xref: NCI:C26919 +xref: NCI:C27824 +xref: NCI:C3210 +xref: NCI:C3211 +xref: NCI:C3458 +xref: NCI:C3459 +xref: NCI:C3462 +xref: NCI:C3463 +xref: SNOMEDCT_US_2015_03_01:109964000 +xref: SNOMEDCT_US_2015_03_01:118601006 +xref: SNOMEDCT_US_2015_03_01:118604003 +xref: SNOMEDCT_US_2015_03_01:128929007 +xref: SNOMEDCT_US_2015_03_01:134176000 +xref: SNOMEDCT_US_2015_03_01:154579006 +xref: SNOMEDCT_US_2015_03_01:154580009 +xref: SNOMEDCT_US_2015_03_01:154583006 +xref: SNOMEDCT_US_2015_03_01:188488003 +xref: SNOMEDCT_US_2015_03_01:188497004 +xref: SNOMEDCT_US_2015_03_01:188498009 +xref: SNOMEDCT_US_2015_03_01:188508003 +xref: SNOMEDCT_US_2015_03_01:188675007 +xref: SNOMEDCT_US_2015_03_01:188676008 +xref: SNOMEDCT_US_2015_03_01:189964003 +xref: SNOMEDCT_US_2015_03_01:189965002 +xref: SNOMEDCT_US_2015_03_01:189982000 +xref: SNOMEDCT_US_2015_03_01:189983005 +xref: SNOMEDCT_US_2015_03_01:189986002 +xref: SNOMEDCT_US_2015_03_01:190012002 +xref: SNOMEDCT_US_2015_03_01:190168009 +xref: SNOMEDCT_US_2015_03_01:1929004 +xref: SNOMEDCT_US_2015_03_01:269628007 +xref: SNOMEDCT_US_2015_03_01:271385002 +xref: SNOMEDCT_US_2015_03_01:373168002 +xref: SNOMEDCT_US_2015_03_01:40152000 +xref: SNOMEDCT_US_2015_03_01:63086004 +xref: SNOMEDCT_US_2015_03_01:67824002 +xref: UMLS_CUI:C0024302 +xref: UMLS_CUI:C0024304 +xref: UMLS_CUI:C0024305 +xref: UMLS_CUI:C0024306 +xref: UMLS_CUI:C0079740 +xref: UMLS_CUI:C0079741 +xref: UMLS_CUI:C0079747 +xref: UMLS_CUI:C0079757 +xref: UMLS_CUI:C0079770 +xref: UMLS_CUI:C3714542 +is_a: DOID:0060073 ! lymphatic system cancer + +[Term] +id: DOID:8676 +name: malignant histiocytosis involving lymph nodes of multiple sites +synonym: "malignant histiocytosis of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:93188005] +is_obsolete: true + +[Term] +id: DOID:8677 +name: perinatal necrotizing enterocolitis +synonym: "ENTEROCOLITIS NECROTIZING" EXACT [MTH:NOCODE] +synonym: "necrotizing enterocolitis" EXACT [CSP2005:5005-0017] +synonym: "Necrotizing enterocolitis in fetus OR newborn (disorder)" EXACT [SNOMEDCT_2005_07_31:2707005] +synonym: "Perinatal necrotising enterocolitis" EXACT [SNOMEDCT_2005_07_31:51180003] +synonym: "Perinatal necrotizing enterocolitis (disorder)" EXACT [SNOMEDCT_2005_07_31:397729009] +synonym: "Pseudomembranous enterocolitis in newborn" EXACT [MTHICD9_2006:777.5] +xref: MSH:D020345 +xref: NCI:C84915 +xref: SNOMEDCT_US_2015_03_01:2707005 +xref: SNOMEDCT_US_2015_03_01:397729009 +xref: SNOMEDCT_US_2015_03_01:51180003 +xref: UMLS_CUI:C0520459 +is_a: DOID:77 ! gastrointestinal system disease + +[Term] +id: DOID:8680 +name: alcoholic gastritis +alt_id: DOID:8957 +alt_id: DOID:9154 +synonym: "Alcoholic Gastritis" EXACT [NCI2004_11_17:C26977] +synonym: "Alcoholic gastritis (disorder)" EXACT [SNOMEDCT_2005_07_31:2043009] +synonym: "Alcoholic gastritis, with hemorrhage" EXACT [] +synonym: "Alcoholic gastritis, without mention of hemorrhage" EXACT [] +xref: ICD10CM:K29.2 +xref: ICD9CM:535.3 +xref: NCI:C26977 +xref: SNOMEDCT_US_2015_03_01:155714000 +xref: SNOMEDCT_US_2015_03_01:2043009 +xref: UMLS_CUI:C0156076 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:8681 +name: paraneoplastic polyneuropathy +synonym: "Paraneoplastic neuropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:77659000] +synonym: "Paraneoplastic Polyneuropathy" EXACT [NCI2004_11_17:C3981] +synonym: "polyneuropathy in malignant disease" EXACT [] +xref: ICD9CM:357.3 +xref: MSH:D020364 +xref: NCI:C3981 +xref: SNOMEDCT_US_2015_03_01:21361000119109 +xref: SNOMEDCT_US_2015_03_01:77659000 +xref: UMLS_CUI:C0270932 +is_a: DOID:2537 ! inflammatory and toxic neuropathy + +[Term] +id: DOID:8683 +name: myeloid sarcoma +alt_id: DOID:8682 +alt_id: DOID:8848 +synonym: "Chloroma" EXACT [MTHICD9_2006:205.3] +synonym: "Chloroma (disorder)" EXACT [SNOMEDCT_2005_07_31:188737002] +synonym: "Chloroma (in Remission)" EXACT [NCI2004_11_17:C8613] +synonym: "Extramedullary Myeloid tumor" EXACT [NCI2004_11_17:C3520] +synonym: "Granulocytic sarcoma" EXACT [MTH:NOCODE] +synonym: "Granulocytic sarcoma" EXACT [NCI2004_11_17:C35815] +synonym: "Granulocytic sarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:188738007] +synonym: "Myeloid sarcoma in remission" EXACT [] +synonym: "Myeloid sarcoma in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:94718004] +synonym: "Myeloid sarcoma NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188739004] +synonym: "Myeloid sarcoma without mention of remission" EXACT [] +synonym: "Myeloid sarcoma, disease (disorder)" EXACT [SNOMEDCT_2005_07_31:94719007] +synonym: "Myeloid sarcoma, morphology (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35287006] +xref: ICD10CM:C92.3 +xref: ICD10CM:C92.30 +xref: ICD9CM:205.3 +xref: MSH:D023981 +xref: NCI:C3520 +xref: NCI:C35815 +xref: SNOMEDCT_US_2015_03_01:188737002 +xref: SNOMEDCT_US_2015_03_01:188738007 +xref: SNOMEDCT_US_2015_03_01:188739004 +xref: SNOMEDCT_US_2015_03_01:35287006 +xref: SNOMEDCT_US_2015_03_01:94719007 +xref: UMLS_CUI:C0152276 +is_a: DOID:2531 ! hematologic cancer + +[Term] +id: DOID:8687 +name: skin carcinoma in situ +alt_id: DOID:8686 +alt_id: DOID:8699 +alt_id: DOID:8817 +alt_id: DOID:8831 +alt_id: DOID:8880 +alt_id: DOID:8989 +alt_id: DOID:9000 +alt_id: DOID:9185 +alt_id: DOID:9221 +def: "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] +synonym: "carcinoma in situ of ear" EXACT [SNOMEDCT_2005_07_31:189278008] +synonym: "carcinoma in situ of eyelid including canthus" EXACT [] +synonym: "carcinoma in situ of scalp and skin of neck" EXACT [] +synonym: "carcinoma in situ of scalp and skin of neck (disorder)" EXACT [SNOMEDCT_2005_07_31:189291009] +synonym: "carcinoma in situ of skin" RELATED [ICD9CM_2006:232] +synonym: "carcinoma in situ of skin of ear and external auditory canal" EXACT [] +synonym: "carcinoma in situ of skin of ear and external auricular canal" EXACT [MTH:U000749] +synonym: "carcinoma in situ of skin of face" EXACT [] +synonym: "carcinoma in situ of skin of lip" EXACT [] +synonym: "carcinoma in situ of skin of lower limb including hip" EXACT [] +synonym: "carcinoma in situ of skin of trunk except scrotum" EXACT [] +synonym: "carcinoma in situ of skin of trunk, excluding scrotum (disorder)" EXACT [SNOMEDCT_2005_07_31:189295000] +synonym: "carcinoma in situ of skin of upper limb including shoulder" EXACT [] +synonym: "Cutaneous carcinoma in situ" EXACT [NCI2004_11_17:C3640] +xref: ICD10CM:D04 +xref: ICD10CM:D04.0 +xref: ICD10CM:D04.2 +xref: ICD10CM:D04.3 +xref: ICD10CM:D04.4 +xref: ICD10CM:D04.6 +xref: ICD10CM:D04.7 +xref: ICD10CM:D04.9 +xref: ICD9CM:232 +xref: ICD9CM:232.0 +xref: ICD9CM:232.2 +xref: ICD9CM:232.3 +xref: ICD9CM:232.4 +xref: ICD9CM:232.5 +xref: ICD9CM:232.6 +xref: ICD9CM:232.7 +xref: ICD9CM:232.9 +xref: NCI:C3640 +xref: SNOMEDCT_US_2015_03_01:189276007 +xref: SNOMEDCT_US_2015_03_01:189278008 +xref: SNOMEDCT_US_2015_03_01:189282005 +xref: SNOMEDCT_US_2015_03_01:189290005 +xref: SNOMEDCT_US_2015_03_01:189291009 +xref: SNOMEDCT_US_2015_03_01:189294001 +xref: SNOMEDCT_US_2015_03_01:189295000 +xref: SNOMEDCT_US_2015_03_01:189334002 +xref: SNOMEDCT_US_2015_03_01:190179004 +xref: SNOMEDCT_US_2015_03_01:190181002 +xref: SNOMEDCT_US_2015_03_01:255144005 +xref: SNOMEDCT_US_2015_03_01:92734000 +xref: SNOMEDCT_US_2015_03_01:92735004 +xref: SNOMEDCT_US_2015_03_01:92747005 +xref: SNOMEDCT_US_2015_03_01:92749008 +xref: UMLS_CUI:C0154073 +xref: UMLS_CUI:C0154074 +xref: UMLS_CUI:C0154077 +xref: UMLS_CUI:C0154078 +xref: UMLS_CUI:C0154079 +xref: UMLS_CUI:C0154080 +xref: UMLS_CUI:C0154081 +xref: UMLS_CUI:C0347139 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8688 +name: tonsillar pillar cancer +synonym: "malignant neoplasm of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:94103007] +synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [MTHICD9_2006:146.2] +synonym: "malignant tumor of tonsillar pillar (disorder)" EXACT [SNOMEDCT_2005_07_31:187675005] +synonym: "malignant tumour of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:187679004] +synonym: "malignant tumour of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:187676006] +xref: ICD10CM:C09.1 +xref: ICD9CM:146.2 +xref: SNOMEDCT_US_2015_03_01:187675005 +xref: SNOMEDCT_US_2015_03_01:187676006 +xref: SNOMEDCT_US_2015_03_01:187679004 +xref: SNOMEDCT_US_2015_03_01:94103007 +xref: UMLS_CUI:C0153385 +is_a: DOID:8557 ! oropharynx cancer + +[Term] +id: DOID:8689 +name: anorexia nervosa +def: "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image." [url:http\://en.wikipedia.org/wiki/Anorexia_nervosa] +xref: ICD10CM:F50.0 +xref: ICD10CM:F50.00 +xref: ICD9CM:307.1 +xref: MSH:D000856 +xref: NCI:C34387 +xref: SNOMEDCT_US_2015_03_01:154926005 +xref: SNOMEDCT_US_2015_03_01:192445002 +xref: SNOMEDCT_US_2015_03_01:56882008 +xref: UMLS_CUI:C0003125 +is_a: DOID:8670 ! eating disorder + +[Term] +id: DOID:869 +name: cholesteatoma +def: "A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." [PMID:26223725, url:https\://en.wikipedia.org/wiki/Cholesteatoma] +xref: ICD10CM:H71.9 +xref: ICD10CM:H71.90 +xref: ICD9CM:385.30 +xref: MSH:D002781 +xref: NCI:C2944 +xref: SNOMEDCT_US_2015_03_01:155244001 +xref: SNOMEDCT_US_2015_03_01:194338004 +xref: SNOMEDCT_US_2015_03_01:267766007 +xref: SNOMEDCT_US_2015_03_01:363668000 +xref: SNOMEDCT_US_2015_03_01:575006 +xref: UMLS_CUI:C0008373 +is_a: DOID:161 ! keratosis + +[Term] +id: DOID:8690 +name: Mycosis fungoides involving lymph nodes of head, face, and neck +synonym: "Mycosis fungoides involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:202.11] +synonym: "Mycosis fungoides of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:94711005] +synonym: "Mycosis fungoides of the lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188619006] +is_obsolete: true + +[Term] +id: DOID:8691 +name: mycosis fungoides +alt_id: DOID:8737 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "MF" EXACT [NCI2004_11_17:C3246] +synonym: "Mycosis Fungoides" EXACT [MTH:U002093] +synonym: "Mycosis fungoides" EXACT [SNOMEDCT_2005_07_31:190003004] +synonym: "Mycosis fungoides (disorder)" EXACT [SNOMEDCT_2005_07_31:118618005] +synonym: "Mycosis fungoides (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:90120004] +synonym: "mycosis fungoides lymphoma" EXACT [CSP2005:2004-7126] +synonym: "Mycosis fungoides NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188628007] +synonym: "Mycosis fungoides NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:190004005] +synonym: "Mycosis fungoides of unspecified site (disorder)" EXACT [SNOMEDCT_2005_07_31:188618003] +synonym: "Mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [] +xref: ICD10CM:C84.0 +xref: ICD10CM:C84.00 +xref: ICD9CM:202.1 +xref: MSH:D009182 +xref: NCI:C3246 +xref: OMIM:254400 +xref: SNOMEDCT_US_2015_03_01:118618005 +xref: SNOMEDCT_US_2015_03_01:188618003 +xref: SNOMEDCT_US_2015_03_01:188628007 +xref: SNOMEDCT_US_2015_03_01:190003004 +xref: SNOMEDCT_US_2015_03_01:190004005 +xref: SNOMEDCT_US_2015_03_01:90120004 +xref: UMLS_CUI:C0026948 +is_a: DOID:0060061 ! cutaneous T cell lymphoma + +[Term] +id: DOID:8692 +name: myeloid leukemia +alt_id: DOID:8878 +alt_id: DOID:8879 +alt_id: DOID:8910 +alt_id: DOID:9066 +alt_id: DOID:9126 +def: "A leukemia that is located_in myeloid tissue." [url:http\://en.wikipedia.org/wiki/Myeloid_leukemia] +synonym: "LEUKEMIA MYELOGENOUS" EXACT [MTH:NOCODE] +synonym: "Myelogenous Leukemia in Remission" EXACT [NCI2004_11_17:C4899] +synonym: "myeloid granulocytic leukemia" EXACT [CSP2005:2004-4431] +synonym: "Myeloid leukaemia" EXACT [SNOMEDCT_2005_07_31:154587007] +synonym: "Myeloid leukaemia" EXACT [SNOMEDCT_2005_07_31:269631008] +synonym: "Myeloid leukaemia (category)" EXACT [SNOMEDCT_2005_07_31:128934006] +synonym: "Myeloid leukemia" EXACT [ICD9CM_2006:205] +synonym: "Myeloid leukemia (disorder)" EXACT [SNOMEDCT_2005_07_31:188732008] +synonym: "Myeloid leukemia in remission (disorder)" EXACT [SNOMEDCT_2005_07_31:94716000] +synonym: "Myeloid leukemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188743000] +synonym: "Myeloid leukemia, disease (disorder)" EXACT [SNOMEDCT_2005_07_31:324170002] +synonym: "Myeloid leukemia, disease [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:94717009] +synonym: "Myeloid leukemia, no ICD-O subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:37810007] +synonym: "Myeloid leukemia, NOS, without mention of remission" EXACT [SNOMEDCT_2005_07_31:94717009] +synonym: "Myeloid leukemias (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:190047005] +synonym: "Non-Lymphocytic Leukemia" EXACT [NCI2004_11_17:C3172] +synonym: "Other myeloid leukemia" EXACT [] +synonym: "Other myeloid leukemia (disorder)" EXACT [SNOMEDCT_2005_07_31:188740002] +synonym: "Other myeloid leukemia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:190159007] +synonym: "Other myeloid leukemia in remission" EXACT [] +synonym: "Other myeloid leukemia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188742005] +synonym: "Other myeloid leukemia NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:190051007] +synonym: "Other myeloid leukemia without mention of remission" EXACT [] +synonym: "Unspecified myeloid leukemia in remission" EXACT [] +synonym: "Unspecified myeloid leukemia without mention of remission" EXACT [] +xref: ICD10CM:C92 +xref: ICD10CM:C92.9 +xref: ICD10CM:C92.90 +xref: ICD9CM:205 +xref: ICD9CM:205.9 +xref: MSH:D007951 +xref: NCI:C3172 +xref: SNOMEDCT_US_2015_03_01:128934006 +xref: SNOMEDCT_US_2015_03_01:154587007 +xref: SNOMEDCT_US_2015_03_01:188732008 +xref: SNOMEDCT_US_2015_03_01:188743000 +xref: SNOMEDCT_US_2015_03_01:190047005 +xref: SNOMEDCT_US_2015_03_01:269631008 +xref: SNOMEDCT_US_2015_03_01:324170002 +xref: SNOMEDCT_US_2015_03_01:37810007 +xref: SNOMEDCT_US_2015_03_01:94717009 +xref: UMLS_CUI:C0023470 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:8696 +name: subacute monocytic leukemia +alt_id: DOID:8898 +xref: ICD9CM:206.2 +xref: SNOMEDCT_US_2015_03_01:12834001 +xref: SNOMEDCT_US_2015_03_01:154596007 +xref: SNOMEDCT_US_2015_03_01:188746008 +xref: SNOMEDCT_US_2015_03_01:190059009 +xref: SNOMEDCT_US_2015_03_01:95276000 +xref: UMLS_CUI:C0152275 +is_a: DOID:8527 ! monocytic leukemia + +[Term] +id: DOID:870 +name: neuropathy +def: "A nervous system disease that is located_in nerves or nerve cells." [url:http\://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29] +xref: ICD10CM:G62.9 +xref: NCI:C4731 +xref: SNOMEDCT_US_2015_03_01:193167000 +xref: SNOMEDCT_US_2015_03_01:264554005 +xref: SNOMEDCT_US_2015_03_01:277317008 +xref: SNOMEDCT_US_2015_03_01:277878001 +xref: SNOMEDCT_US_2015_03_01:386033004 +xref: SNOMEDCT_US_2015_03_01:42658009 +xref: UMLS_CUI:C0442874 +is_a: DOID:863 ! nervous system disease + +[Term] +id: DOID:8701 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.41] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188554007] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93497000] +is_obsolete: true + +[Term] +id: DOID:8702 +name: cheek mucosa cancer +synonym: "malignant neoplasm of buccal mucosa" EXACT [SNOMEDCT_2005_07_31:93735006] +synonym: "malignant neoplasm of cheek, inner aspect" EXACT [MTHICD9_2006:145.0] +synonym: "malignant neoplasm of the Buccal Mucosa" EXACT [NCI2004_11_17:C9320] +synonym: "malignant tumor of buccal mucosa (disorder)" EXACT [SNOMEDCT_2005_07_31:363386008] +xref: ICD10CM:C06.0 +xref: ICD9CM:145.0 +xref: NCI:C9320 +xref: SNOMEDCT_US_2015_03_01:363386008 +xref: SNOMEDCT_US_2015_03_01:93735006 +xref: UMLS_CUI:C0153373 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8703 +name: penis herpetic infectious disease +def: "A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area." [url:http\://kidshealth.org/parent/infections/std/herpes.htm] +synonym: "Herpetic infection of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:10227000] +is_obsolete: true + +[Term] +id: DOID:8704 +name: genital herpes +alt_id: DOID:8982 +def: "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." [url:http\://www.cdc.gov/std/herpes/stdfact-herpes.htm] +subset: sexually_transmitted_infectious_disease +synonym: "Genital herpes simplex (disorder)" EXACT [SNOMEDCT_2005_07_31:33839006] +synonym: "HERPES GENITALIA" EXACT [MTH:363] +synonym: "Herpes Genitalis" EXACT [MTH:328] +synonym: "venereal herpes" EXACT [CSP2005:3099-9627] +synonym: "Virus-Genital Herpes" EXACT [NCI2004_11_17:C14364] +xref: ICD9CM:054.1 +xref: ICD9CM:054.10 +xref: MSH:D006558 +xref: NCI:C14364 +xref: SNOMEDCT_US_2015_03_01:154333002 +xref: SNOMEDCT_US_2015_03_01:186536000 +xref: SNOMEDCT_US_2015_03_01:186539007 +xref: SNOMEDCT_US_2015_03_01:271463009 +xref: SNOMEDCT_US_2015_03_01:33839006 +xref: UMLS_CUI:C0019342 +is_a: DOID:8566 ! herpes simplex + +[Term] +id: DOID:8712 +name: neurofibromatosis +alt_id: DOID:14750 +alt_id: DOID:8711 +alt_id: DOID:9137 +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Acoustic neurofibromatosis" EXACT [MTHICD9_2006:237.72] +synonym: "central Neurofibromatosis" EXACT [NCI2004_11_17:C3274] +synonym: "Neurofibromatosis 1" EXACT [MTH:U003314] +synonym: "neurofibromatosis type 1" EXACT [] +synonym: "neurofibromatosis type 2" EXACT [] +synonym: "neurofibromatosis type 4" EXACT [] +synonym: "neurofibromatosis type IV " EXACT [] +synonym: "peripheral Neurofibromatosis" EXACT [NCI2004_11_17:C3273] +synonym: "Recklinghausen's neurofibromatosis" EXACT [CSP2005:2012-7338] +synonym: "type IV neurofibromatosis of riccardi" EXACT [] +synonym: "von Reklinghausen disease" EXACT [] +xref: ICD10CM:Q85.00 +xref: ICD10CM:Q85.01 +xref: ICD10CM:Q85.02 +xref: ICD9CM:237.7 +xref: ICD9CM:237.70 +xref: ICD9CM:237.71 +xref: ICD9CM:237.72 +xref: MSH:C537392 +xref: MSH:D009456 +xref: MSH:D016518 +xref: MSH:D017253 +xref: NCI:C3273 +xref: NCI:C3274 +xref: NCI:C6727 +xref: OMIM:101000 +xref: OMIM:162200 +xref: OMIM:162210 +xref: OMIM:162260 +xref: OMIM:162270 +xref: ORDO:636 +xref: ORDO:637 +xref: ORDO:93921 +xref: SNOMEDCT_US_2015_03_01:154642000 +xref: SNOMEDCT_US_2015_03_01:19133005 +xref: SNOMEDCT_US_2015_03_01:700060008 +xref: SNOMEDCT_US_2015_03_01:700061007 +xref: SNOMEDCT_US_2015_03_01:81669005 +xref: SNOMEDCT_US_2015_03_01:92503002 +xref: SNOMEDCT_US_2015_03_01:92824003 +xref: UMLS_CUI:C0027831 +xref: UMLS_CUI:C0027832 +xref: UMLS_CUI:C0162678 +xref: UMLS_CUI:C0220695 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:8716 +name: lymphosarcoma and reticulosarcoma +alt_id: DOID:8727 +alt_id: DOID:8728 +alt_id: DOID:8764 +alt_id: DOID:8789 +alt_id: DOID:8829 +alt_id: DOID:8890 +alt_id: DOID:8933 +alt_id: DOID:9044 +alt_id: DOID:9172 +alt_id: DOID:9209 +synonym: "Lymphosarcoma and reticulosarcoma (disorder)" EXACT [SNOMEDCT_2005_07_31:188487008] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:200.81] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving spleen" EXACT [] +synonym: "Other named variants of lymphosarcoma and reticulosarcoma, unspecified site" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8717 +name: decubitus ulcer +alt_id: DOID:8808 +alt_id: DOID:9002 +alt_id: DOID:9029 +alt_id: DOID:9129 +def: "Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore] +synonym: "bedsore" RELATED [] +synonym: "Decubitus (pressure) ulcer" EXACT [SNOMEDCT_2005_07_31:201248003] +synonym: "Decubitus ulcer" EXACT [SNOMEDCT_2005_07_31:165258002] +synonym: "Decubitus ulcer any site" EXACT [MTHICD9_2006:707.0] +synonym: "Decubitus ulcer, elbow" EXACT [] +synonym: "Decubitus ulcer, lower back" EXACT [] +synonym: "Decubitus ulcer, other site" EXACT [] +synonym: "Decubitus ulcer, upper back" EXACT [] +synonym: "pressure sores" EXACT [MTH:U000022] +synonym: "pressure ulcer" EXACT [CSP2005:2718-0434] +xref: ICD10CM:L89 +xref: ICD10CM:L89.9 +xref: ICD9CM:707.0 +xref: ICD9CM:707.00 +xref: MSH:D003668 +xref: NCI:C50706 +xref: SNOMEDCT_US_2015_03_01:142668003 +xref: SNOMEDCT_US_2015_03_01:156424003 +xref: SNOMEDCT_US_2015_03_01:165258002 +xref: SNOMEDCT_US_2015_03_01:201248003 +xref: SNOMEDCT_US_2015_03_01:28103007 +xref: SNOMEDCT_US_2015_03_01:399912005 +xref: SNOMEDCT_US_2015_03_01:400192002 +xref: SNOMEDCT_US_2015_03_01:418172001 +xref: SNOMEDCT_US_2015_03_01:420226006 +xref: SNOMEDCT_US_2015_03_01:90144002 +xref: UMLS_CUI:C0011127 +is_a: DOID:8549 ! chronic ulcer of skin + +[Term] +id: DOID:8718 +name: carcinoma in situ of respiratory system +alt_id: DOID:8965 +def: "A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] +synonym: "carcinoma in situ of respiratory tract (disorder)" EXACT [SNOMEDCT_2005_07_31:92698005] +is_obsolete: true + +[Term] +id: DOID:8719 +name: in situ carcinoma +alt_id: DOID:8793 +alt_id: DOID:8821 +def: "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] +xref: ICD10CM:D09.9 +xref: ICD9CM:230-234.99 +xref: ICD9CM:234.9 +xref: MSH:D002278 +xref: NCI:C2917 +xref: SNOMEDCT_US_2015_03_01:109355002 +xref: SNOMEDCT_US_2015_03_01:154635000 +xref: SNOMEDCT_US_2015_03_01:154640008 +xref: SNOMEDCT_US_2015_03_01:189208007 +xref: SNOMEDCT_US_2015_03_01:189359006 +xref: SNOMEDCT_US_2015_03_01:189548003 +xref: SNOMEDCT_US_2015_03_01:271528002 +xref: SNOMEDCT_US_2015_03_01:399919001 +xref: SNOMEDCT_US_2015_03_01:68956006 +xref: UMLS_CUI:C0007099 +is_a: DOID:0060071 ! pre-malignant neoplasm + +[Term] +id: DOID:872 +name: soft tissue disease +alt_id: DOID:14 +alt_id: DOID:44 +synonym: "Connective and soft tissue disease" EXACT [NCI2004_11_17:C27574] +synonym: "Connective and soft tissue disorder" EXACT [MTH:NOCODE] +synonym: "disease of deep fascial system" EXACT [] +synonym: "tissue disease" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8725 +name: vascular dementia +alt_id: DOID:13915 +def: "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain." [url:http\://www.mayoclinic.com/health/vascular-dementia/DS00934, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] +synonym: "Multi Infarct Dementia" EXACT [MTH:NOCODE, NCI2004_11_17:C34522] +synonym: "multifocal dementia" EXACT [CSP2005:0485-6862] +xref: ICD10CM:F01 +xref: ICD10CM:F01.5 +xref: ICD9CM:290.4 +xref: MSH:D015140 +xref: MSH:D015161 +xref: NCI:C34522 +xref: NCI:C34525 +xref: SNOMEDCT_US_2015_03_01:154850006 +xref: SNOMEDCT_US_2015_03_01:191462009 +xref: SNOMEDCT_US_2015_03_01:192165000 +xref: SNOMEDCT_US_2015_03_01:192167008 +xref: SNOMEDCT_US_2015_03_01:192171006 +xref: SNOMEDCT_US_2015_03_01:268613002 +xref: SNOMEDCT_US_2015_03_01:429998004 +xref: SNOMEDCT_US_2015_03_01:56267009 +xref: UMLS_CUI:C0011263 +xref: UMLS_CUI:C0011269 +is_a: DOID:1307 ! dementia + +[Term] +id: DOID:8729 +name: milker's nodule +def: "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." [url:http\://emedicine.medscape.com/article/1132823-overview, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf] +subset: zoonotic_infectious_disease +synonym: "milker nodule" EXACT [] +synonym: "Milkers' node" EXACT [MTHICD9_2006:051.1] +synonym: "Paravaccinia NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186507000] +synonym: "Pseudocowpox" RELATED [ICD9CM_2006:051.1] +xref: ICD10CM:B08.04 +xref: ICD9CM:051.1 +xref: ICD9CM:051.9 +xref: MSH:D011213 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:186507000 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:27240009 +xref: UMLS_CUI:C0026143 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:873 +name: anaerobic pneumonia +def: "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg] +synonym: "pneumonia due to anaerobes" EXACT [] +xref: ICD9CM:482.81 +xref: UMLS_CUI:C0375327 +is_a: DOID:0050152 ! aspiration pneumonia + +[Term] +id: DOID:8731 +name: carotid body cancer +def: "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery." [url:http\://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm] +synonym: "cancer of carotid body" RELATED [] +synonym: "malignant Carotid body Paraganglioma" EXACT [NCI2004_11_17:C3574] +synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:16822006] +xref: ICD10CM:C75.4 +xref: ICD9CM:194.5 +xref: NCI:C3574 +xref: SNOMEDCT_US_2015_03_01:16822006 +xref: SNOMEDCT_US_2015_03_01:188342008 +xref: SNOMEDCT_US_2015_03_01:447883002 +xref: SNOMEDCT_US_2015_03_01:93740003 +xref: UMLS_CUI:C0153656 +is_a: DOID:175 ! vascular cancer + +[Term] +id: DOID:8736 +name: smallpox +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk." [url:http\://www.who.int/mediacentre/factsheets/smallpox/en/] +synonym: "Ordinary smallpox" EXACT [SNOMEDCT_2005_07_31:47452006] +xref: ICD10CM:B03 +xref: ICD9CM:050 +xref: ICD9CM:050.9 +xref: MSH:D012899 +xref: NCI:C35027 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:186505008 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:47452006 +xref: SNOMEDCT_US_2015_03_01:67924001 +xref: UMLS_CUI:C0037354 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8738 +name: leukoplakia of penis +synonym: "Kraurosis of penis" EXACT [SNOMEDCT_2005_07_31:266639006] +synonym: "Kraurosis of penis" EXACT [MTHICD9_2006:607.0] +synonym: "Kraurosis of penis" EXACT [SNOMEDCT_2005_07_31:155932009] +synonym: "Leucoplakia of penis" EXACT [SNOMEDCT_2005_07_31:198019005] +synonym: "Leukoplakia of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:3323003] +synonym: "Penile Leukoplakia" EXACT [NCI2004_11_17:C3151] +xref: ICD10CM:N48.0 +xref: ICD9CM:607.0 +xref: MSH:D052798 +xref: NCI:C3151 +xref: SNOMEDCT_US_2015_03_01:155932009 +xref: SNOMEDCT_US_2015_03_01:198019005 +xref: SNOMEDCT_US_2015_03_01:266639006 +xref: SNOMEDCT_US_2015_03_01:3323003 +xref: UMLS_CUI:C0022782 +is_a: DOID:1529 ! penile disease + +[Term] +id: DOID:874 +name: bacterial pneumonia +alt_id: DOID:13815 +def: "A pneumonia involving inflammation of the lungs caused by bacteria." [url:http\://en.wikipedia.org/wiki/Bacterial_pneumonia] +subset: GOLD +synonym: "gram-negative pneumonia" EXACT [] +synonym: "Pneumonia due to other gram-negative bacteria" EXACT [ICD9CM_2006:482.83] +xref: ICD10CM:J15.9 +xref: ICD9CM:482.9 +xref: MSH:D018410 +xref: NCI:C26704 +xref: SNOMEDCT_US_2015_03_01:155553007 +xref: SNOMEDCT_US_2015_03_01:195891009 +xref: SNOMEDCT_US_2015_03_01:195892002 +xref: SNOMEDCT_US_2015_03_01:53084003 +xref: UMLS_CUI:C0004626 +is_a: DOID:552 ! pneumonia + +[Term] +id: DOID:8741 +name: seborrheic dermatitis +alt_id: DOID:8740 +def: "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] +synonym: "Other seborrheic dermatitis" EXACT [] +synonym: "Other seborrheic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:201359005] +synonym: "Seborrhea" EXACT [ICD9CM_2006:706.3] +synonym: "Seborrhea" EXACT [MTH:670] +synonym: "seborrhea" EXACT [CSP2005:4008-0032] +synonym: "Seborrhea (disorder)" EXACT [SNOMEDCT_2005_07_31:86708008] +synonym: "Seborrhea NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201241009] +synonym: "Seborrheic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:50563003] +synonym: "Seborrheic dermatitis NOS" EXACT [MTHICD9_2006:690.10] +synonym: "Seborrhoea" EXACT [SNOMEDCT_2005_07_31:156421006] +synonym: "Seborrhoeic dermatitis" EXACT [SNOMEDCT_2005_07_31:156328004] +synonym: "Seborrhoeic eczema" EXACT [SNOMEDCT_2005_07_31:200764003] +synonym: "SKIN SEBORRHEIC" EXACT [MTH:NOCODE] +xref: ICD10CM:L21 +xref: ICD10CM:L21.9 +xref: ICD9CM:690.1 +xref: ICD9CM:690.10 +xref: ICD9CM:706.3 +xref: MSH:D012628 +xref: NCI:C111888 +xref: SNOMEDCT_US_2015_03_01:156328004 +xref: SNOMEDCT_US_2015_03_01:156421006 +xref: SNOMEDCT_US_2015_03_01:200764003 +xref: SNOMEDCT_US_2015_03_01:201241009 +xref: SNOMEDCT_US_2015_03_01:50563003 +xref: SNOMEDCT_US_2015_03_01:86708008 +xref: UMLS_CUI:C0036508 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:8742 +name: Hodgkin's granuloma involving lymph nodes of head, face, and neck +synonym: "Hodgkin's granuloma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.11] +synonym: "Hodgkin's granuloma of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188534006] +synonym: "Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93533001] +is_obsolete: true + +[Term] +id: DOID:8743 +name: erythema infectiosum +synonym: "Erythema infectiosum (disorder)" EXACT [SNOMEDCT_2005_07_31:34730008] +synonym: "Fifth disease" EXACT [MTHICD9_2006:057.0] +synonym: "Fifth disease" EXACT [SNOMEDCT_2005_07_31:266193008] +synonym: "Fifth disease" EXACT [SNOMEDCT_2005_07_31:154344005] +xref: ICD10CM:B08.3 +xref: ICD9CM:057.0 +xref: MSH:D016731 +xref: NCI:C84695 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:34730008 +xref: UMLS_CUI:C0085273 +is_a: DOID:8672 ! viral exanthem + +[Term] +id: DOID:8745 +name: universal ulcerative colitis +synonym: "chronic universal ulcerative colitis" EXACT [MTHICD9_2006:556.6] +synonym: "universal ulcerative (chronic) colitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8747 +name: subacute myeloid leukemia +alt_id: DOID:8746 +alt_id: DOID:8993 +synonym: "Atypical chronic myeloid leukemia (disorder)" EXACT [SNOMEDCT_2005_07_31:277589003] +synonym: "Atypical CML" EXACT [NCI2004_11_17:C3519] +xref: SNOMEDCT_US_2015_03_01:95278004 +xref: UMLS_CUI:C0153889 +is_a: DOID:8692 ! myeloid leukemia + +[Term] +id: DOID:8748 +name: acute dermatitis due to solar radiation +is_obsolete: true + +[Term] +id: DOID:8749 +name: actinic reticuloid and actinic granuloma +is_obsolete: true + +[Term] +id: DOID:8751 +name: Hodgkin's granuloma involving intrathoracic lymph nodes +is_obsolete: true + +[Term] +id: DOID:8752 +name: tuberculous pneumonia +alt_id: DOID:14009 +def: "A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus." [url:http\://chestjournal.chestpubs.org/content/71/6/774.full.pdf, url:http\://www.bmj.com/cgi/reprint/1/4608/741.pdf] +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculous bronchopneumonia" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8754 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188559002] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93498005] +is_obsolete: true + +[Term] +id: DOID:8757 +name: gastric mucosal hypertrophy +alt_id: DOID:9134 +alt_id: DOID:9242 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "familial giant hypertrophic gastritis" EXACT [] +synonym: "Giant rugal hypertrophy of stomach" EXACT [SNOMEDCT_2005_07_31:235665008] +synonym: "hypertrophic gastritis" EXACT [MTHICD9_2006:535.2] +synonym: "hypertrophic gastropathy (disorder)" EXACT [SNOMEDCT_2005_07_31:413219009] +synonym: "MENETRIER DISEASE" EXACT [] +xref: ICD10CM:K29.6 +xref: ICD9CM:535.2 +xref: MSH:D005758 +xref: NCI:C67277 +xref: OMIM:137280 +xref: SNOMEDCT_US_2015_03_01:235665008 +xref: SNOMEDCT_US_2015_03_01:413219009 +xref: SNOMEDCT_US_2015_03_01:60002000 +xref: UMLS_CUI:C0017155 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:8758 +name: lymphosarcoma involving lymph nodes of multiple sites +is_obsolete: true + +[Term] +id: DOID:876 +name: pyomyositis +subset: gram-positive_bacterial_infectious_disease +synonym: "Tropical pyomyositis" EXACT [ICD9CM_2006:040.81] +xref: ICD10CM:M60.0 +xref: ICD9CM:040.81 +xref: MSH:D052880 +xref: SNOMEDCT_US_2015_03_01:186430009 +xref: SNOMEDCT_US_2015_03_01:65110003 +xref: UMLS_CUI:C0041188 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:8761 +name: megakaryocytic leukemia +alt_id: DOID:9009 +def: "A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers." [url:http\://medical-dictionary.thefreedictionary.com/megakaryocytic+leukemia] +synonym: "acute megakaryoblastic leukaemia, FAB M7" EXACT [SNOMEDCT_2005_07_31:277602003] +synonym: "acute Megakaryoblastic Leukemia (FAB type M7)" EXACT [NCI2004_11_17:C3170] +synonym: "acute megakaryoblastic leukemia, FAB M7 (disorder)" EXACT [SNOMEDCT_2005_07_31:94149003] +synonym: "acute Megakaryocytic Leukemias" EXACT [MTH:NOCODE] +synonym: "Megakaryocytic myelosis" EXACT [MTHICD9_2006:207.2] +synonym: "Thrombocytic leukaemia" EXACT [SNOMEDCT_2005_07_31:190065009] +xref: ICD10CM:C94.2 +xref: ICD10CM:C94.20 +xref: ICD9CM:207.2 +xref: MSH:D007947 +xref: NCI:C3170 +xref: SNOMEDCT_US_2015_03_01:188754005 +xref: SNOMEDCT_US_2015_03_01:190065009 +xref: SNOMEDCT_US_2015_03_01:190067001 +xref: SNOMEDCT_US_2015_03_01:277602003 +xref: SNOMEDCT_US_2015_03_01:52220008 +xref: SNOMEDCT_US_2015_03_01:94149003 +xref: UMLS_CUI:C0023462 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:8762 +name: Herpes simplex virus otitis externa +def: "A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal." [url:http\://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg] +synonym: "Herpes simplex otitis externa (disorder)" EXACT [SNOMEDCT_2005_07_31:111856000] +is_obsolete: true + +[Term] +id: DOID:8765 +name: Herpes simplex virus septicemia +alt_id: DOID:8971 +def: "A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001355.htm] +synonym: "Herpes simplex septicemia (disorder)" EXACT [SNOMEDCT_2005_07_31:49012006] +synonym: "visceral herpes simplex" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8766 +name: lymphosarcoma involving intra-abdominal lymph nodes +is_obsolete: true + +[Term] +id: DOID:8767 +name: malignant histiocytosis involving lymph nodes of axilla and upper limb +is_obsolete: true + +[Term] +id: DOID:8768 +name: nodular lymphoma involving spleen +is_obsolete: true + +[Term] +id: DOID:8769 +name: malignant histiocytosis involving lymph nodes of inguinal region and lower limb +synonym: "malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188642004] +synonym: "malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93187000] +is_obsolete: true + +[Term] +id: DOID:8770 +name: reticulosarcoma involving intra-abdominal lymph nodes +synonym: "Reticulosarcoma of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:188491003] +synonym: "Reticulosarcoma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95224004] +is_obsolete: true + +[Term] +id: DOID:8771 +name: contagious pustular dermatitis +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." [url:http\://en.wikipedia.org/wiki/Orf_%28disease%29, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm] +subset: zoonotic_infectious_disease +synonym: "Ecthyma contagiosum" EXACT [MTHICD9_2006:051.2] +synonym: "Ecthyma, Contagious" EXACT [MTH:NOCODE] +synonym: "Orf" EXACT [SNOMEDCT_2005_07_31:266193008] +synonym: "scabby mouth" EXACT [] +synonym: "sheep pox" EXACT [] +synonym: "thistle disease" EXACT [] +xref: ICD10CM:B08.02 +xref: ICD9CM:051.2 +xref: MSH:D004474 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:74050005 +xref: UMLS_CUI:C0013570 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8773 +name: nodular lymphoma involving lymph nodes of head, face, and neck +synonym: "nodular lymphoma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:202.01] +synonym: "nodular lymphoma of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188609000] +synonym: "nodular lymphoma of lymph nodes of head, face, and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:95190008] +is_obsolete: true + +[Term] +id: DOID:8775 +name: ulcerative proctosigmoiditis +alt_id: DOID:3129 +synonym: "chronic ulcerative rectosigmoiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:52506002] +synonym: "proctosigmoiditis" EXACT [] +synonym: "Proctosigmoiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:41364008] +synonym: "ulcerative (chronic) proctosigmoiditis" EXACT [] +synonym: "ulcerative proctosigmoiditis" EXACT [MTHICD9_2006:556.3] +is_obsolete: true + +[Term] +id: DOID:8778 +name: Crohn's disease +alt_id: DOID:8784 +alt_id: DOID:8855 +alt_id: DOID:8942 +def: "An intestinal disease that involves inflammation located_in intestine." [url:http\://en.wikipedia.org/wiki/Chron%27s_disease] +comment: MSH:C536215 added from NeuroDevNet [WAK]. +synonym: "Crohn disease" EXACT [MSH:D003424] +synonym: "Crohn's disease of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:50440006] +synonym: "Crohn's disease of large bowel" EXACT [MTH:NOCODE] +synonym: "Granulomatous Colitis" EXACT [NCI2004_11_17:C37262] +synonym: "Pediatric Crohn's disease" EXACT [MSH:C536215] +synonym: "regional colitis" EXACT [MTHICD9_2006:555.1] +synonym: "regional enteritis" RELATED [ICD9CM_2006:555] +synonym: "regional enteritis of small intestine with large intestine" EXACT [] +synonym: "regional enteritis of the large bowel" EXACT [SNOMEDCT_2005_07_31:155762006] +synonym: "regional Ileitis" EXACT [MTHICD9_2006:555.0] +synonym: "regional ileocolitis" EXACT [MTHICD9_2006:555.2] +xref: EFO:0000384 +xref: ICD10CM:K50.0 +xref: ICD9CM:555.0 +xref: NCI:C35210 +xref: SNOMEDCT_US_2015_03_01:155761004 +xref: SNOMEDCT_US_2015_03_01:196980005 +xref: SNOMEDCT_US_2015_03_01:56689002 +xref: UMLS_CUI:C0156146 +is_a: DOID:0050589 ! inflammatory bowel disease + +[Term] +id: DOID:8781 +name: rubella +alt_id: DOID:11765 +alt_id: DOID:1463 +alt_id: DOID:1464 +alt_id: DOID:8780 +alt_id: DOID:8816 +alt_id: DOID:8909 +alt_id: DOID:9106 +alt_id: DOID:9116 +alt_id: DOID:9162 +alt_id: DOID:9179 +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis." [url:http\://en.wikipedia.org/wiki/Rubella] +synonym: "german measles" EXACT [SNOMEDCT_2005_07_31:266192003] +xref: ICD10CM:B06 +xref: ICD10CM:B06.9 +xref: ICD9CM:056 +xref: MSH:D012409 +xref: NCI:C85051 +xref: SNOMEDCT_US_2015_03_01:154343004 +xref: SNOMEDCT_US_2015_03_01:266192003 +xref: SNOMEDCT_US_2015_03_01:36653000 +xref: UMLS_CUI:C0035920 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8785 +name: postherpetic polyneuropathy +def: "A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching." [url:http\://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277] +is_obsolete: true + +[Term] +id: DOID:8787 +name: disseminated chorioretinitis +synonym: "Disseminated chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:78769001] +synonym: "Disseminated chorioretinitis and disseminated retinochoroiditis" EXACT [ICD9CM_2006:363.1] +synonym: "Disseminated chorioretinitis and retinochoroiditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193447003] +synonym: "Disseminated chorioretinitis, unspecified" EXACT [ICD9CM_2006:363.10] +synonym: "Unspecified disseminated chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:193441002] +xref: ICD10CM:H30.1 +xref: ICD10CM:H30.10 +xref: ICD9CM:363.1 +xref: ICD9CM:363.10 +xref: SNOMEDCT_US_2015_03_01:193441002 +xref: SNOMEDCT_US_2015_03_01:193447003 +xref: SNOMEDCT_US_2015_03_01:78769001 +xref: UMLS_CUI:C0154879 +is_a: DOID:8886 ! chorioretinitis + +[Term] +id: DOID:8791 +name: breast carcinoma in situ +synonym: "carcinoma in situ of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:189336000] +synonym: "Non-Infiltrating carcinoma of breast" EXACT [NCI2004_11_17:C3641] +xref: ICD10CM:D05 +xref: ICD10CM:D05.9 +xref: ICD9CM:233.0 +xref: NCI:C3641 +xref: SNOMEDCT_US_2015_03_01:154636004 +xref: SNOMEDCT_US_2015_03_01:189336000 +xref: UMLS_CUI:C0154084 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8792 +name: eye carcinoma in situ +def: "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] +synonym: "carcinoma in situ of eye (disorder)" EXACT [SNOMEDCT_2005_07_31:92590009] +xref: ICD10CM:D09.2 +xref: ICD9CM:234.0 +xref: SNOMEDCT_US_2015_03_01:92590009 +xref: UMLS_CUI:C0154094 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8794 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93495008] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:188555008] +is_obsolete: true + +[Term] +id: DOID:8795 +name: Hodgkin's granuloma involving spleen +synonym: "Hodgkin's granuloma of spleen" EXACT [SNOMEDCT_2005_07_31:188540004] +synonym: "Hodgkin's granuloma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93536009] +is_obsolete: true + +[Term] +id: DOID:8798 +name: Hodgkin's lymphoma, mixed cellularity, involving spleen +synonym: "Hodgkin's disease, mixed cellularity of spleen" EXACT [SNOMEDCT_2005_07_31:188581007] +synonym: "Hodgkin's disease, mixed cellularity of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93509007] +synonym: "Hodgkin's disease, mixed cellularity, involving spleen" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8800 +name: lung carcinoma in situ +synonym: "carcinoma in situ of bronchus and lung (disorder)" EXACT [SNOMEDCT_2005_07_31:189262006] +synonym: "carcinoma in situ of bronchus or lung NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189268005] +xref: ICD10CM:D02.2 +xref: ICD9CM:231.2 +xref: SNOMEDCT_US_2015_03_01:189262006 +xref: SNOMEDCT_US_2015_03_01:189268005 +xref: UMLS_CUI:C0154071 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8802 +name: trachea carcinoma in situ +synonym: "carcinoma in situ of trachea (disorder)" EXACT [SNOMEDCT_2005_07_31:92772005] +synonym: "Tracheal carcinoma In situ" EXACT [NCI2004_11_17:C3639] +xref: ICD10CM:D02.1 +xref: ICD9CM:231.1 +xref: NCI:C3639 +xref: SNOMEDCT_US_2015_03_01:92772005 +xref: UMLS_CUI:C0154070 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8803 +name: repetitive intrusions of sleep +synonym: "Repetitive intrusions of sleep (disorder)" EXACT [SNOMEDCT_2005_07_31:268654005] +is_obsolete: true + +[Term] +id: DOID:8805 +name: intermediate coronary syndrome +synonym: "(Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction)" EXACT [SNOMEDCT_2005_07_31:194814006] +synonym: "Angina at rest" EXACT [SNOMEDCT_2005_07_31:194817004] +synonym: "Angina at rest" EXACT [SNOMEDCT_2005_07_31:233818002] +synonym: "Angina at rest" EXACT [SNOMEDCT_2005_07_31:155313008] +synonym: "Anginal chest pain at rest" EXACT [SNOMEDCT_2005_07_31:59021001] +synonym: "Impending infarction (disorder)" EXACT [SNOMEDCT_2005_07_31:25106000] +synonym: "Preinfarction angina" EXACT [MTHICD9_2006:411.1] +synonym: "Preinfarction angina (disorder)" EXACT [SNOMEDCT_2005_07_31:64333001] +synonym: "Unstable angina" EXACT [MTH:NOCODE] +synonym: "Unstable angina" EXACT [SNOMEDCT_2005_07_31:194816008] +synonym: "Unstable angina" EXACT [SNOMEDCT_2005_07_31:233820004] +synonym: "Unstable angina" EXACT [SNOMEDCT_2005_07_31:155308009] +synonym: "Worsening angina" EXACT [SNOMEDCT_2005_07_31:155314002] +synonym: "Worsening angina" EXACT [SNOMEDCT_2005_07_31:4557003] +synonym: "Worsening angina" EXACT [SNOMEDCT_2005_07_31:194819001] +xref: ICD10CM:I20.0 +xref: ICD9CM:411.1 +xref: MSH:D000789 +xref: NCI:C66911 +xref: SNOMEDCT_US_2015_03_01:155308009 +xref: SNOMEDCT_US_2015_03_01:155313008 +xref: SNOMEDCT_US_2015_03_01:155314002 +xref: SNOMEDCT_US_2015_03_01:194814006 +xref: SNOMEDCT_US_2015_03_01:194816008 +xref: SNOMEDCT_US_2015_03_01:194817004 +xref: SNOMEDCT_US_2015_03_01:194819001 +xref: SNOMEDCT_US_2015_03_01:233818002 +xref: SNOMEDCT_US_2015_03_01:233820004 +xref: SNOMEDCT_US_2015_03_01:25106000 +xref: SNOMEDCT_US_2015_03_01:4557003 +xref: SNOMEDCT_US_2015_03_01:59021001 +xref: SNOMEDCT_US_2015_03_01:64333001 +xref: UMLS_CUI:C0002965 +is_a: DOID:3393 ! coronary artery disease + +[Term] +id: DOID:8806 +name: malignant histiocytosis involving intrapelvic lymph nodes +synonym: "malignant histiocytosis of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93183001] +is_obsolete: true + +[Term] +id: DOID:8807 +name: allergic gastroenteritis and colitis +is_obsolete: true + +[Term] +id: DOID:8811 +name: malignant histiocytosis involving intrathoracic lymph nodes +synonym: "malignant histiocytosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93184007] +is_obsolete: true + +[Term] +id: DOID:8812 +name: Measles virus otitis media +def: "A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear." [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false] +synonym: "postmeasles otitis media" EXACT [] +is_obsolete: true + +[Term] +id: DOID:882 +name: heterophyiasis +def: "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm] +synonym: "heterophyes infectious disease" EXACT [] +xref: ICD10CM:B66.8 +xref: ICD9CM:121.6 +xref: SNOMEDCT_US_2015_03_01:187126008 +xref: SNOMEDCT_US_2015_03_01:22905009 +xref: UMLS_CUI:C0152071 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:8820 +name: ulcerative ileocolitis +synonym: "chronic ulcerative ileocolitis" EXACT [MTHICD9_2006:556.1] +synonym: "chronic ulcerative ileocolitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13470001] +synonym: "ulcerative (chronic) ileocolitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:8825 +name: Hodgkin's paragranuloma involving spleen +synonym: "Hodgkin's Paragranuloma Involving Spleen" EXACT [NCI2004_11_17:C26961] +synonym: "Hodgkin's paragranuloma of spleen" EXACT [SNOMEDCT_2005_07_31:188530002] +synonym: "Hodgkin's paragranuloma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93545005] +is_obsolete: true + +[Term] +id: DOID:8826 +name: colon carcinoma in situ +synonym: "carcinoma in situ of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:92568009] +synonym: "carcinoma in situ of colon NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189230008] +synonym: "stage 0 Colonic carcinoma" EXACT [NCI2004_11_17:C3638] +xref: ICD10CM:D01.0 +xref: ICD9CM:230.3 +xref: NCI:C3638 +xref: SNOMEDCT_US_2015_03_01:189230008 +xref: SNOMEDCT_US_2015_03_01:92568009 +xref: UMLS_CUI:C0154061 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8828 +name: systemic inflammatory response syndrome +synonym: "SIRS" EXACT [] +synonym: "systemic inflammatory response syndrome (SIRS) NOS" EXACT [MTHICD9_2006:995.90] +synonym: "systemic inflammatory response syndrome, unspecified" EXACT [ICD9CM_2006:995.90] +is_obsolete: true + +[Term] +id: DOID:883 +name: parasitic helminthiasis infectious disease +alt_id: DOID:10693 +alt_id: DOID:3563 +alt_id: DOID:458 +alt_id: DOID:932 +def: "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes." [url:http\://en.wikipedia.org/wiki/Helminth, url:http\://en.wikipedia.org/wiki/Helminthiasis] +synonym: "helminth infection" EXACT [] +synonym: "helminthiasis" EXACT [] +synonym: "helminthosis" EXACT [] +synonym: "worm infection" EXACT [] +xref: ICD10CM:B65-B83 +xref: ICD10CM:B83.9 +xref: ICD9CM:120-129.99 +xref: ICD9CM:128.9 +xref: MSH:D006373 +xref: NCI:C84751 +xref: SNOMEDCT_US_2015_03_01:154410004 +xref: SNOMEDCT_US_2015_03_01:187189004 +xref: SNOMEDCT_US_2015_03_01:187518006 +xref: SNOMEDCT_US_2015_03_01:187542005 +xref: SNOMEDCT_US_2015_03_01:266219000 +xref: SNOMEDCT_US_2015_03_01:27601005 +xref: UMLS_CUI:C0018889 +is_a: DOID:1398 ! parasitic infectious disease + +[Term] +id: DOID:8832 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites" EXACT [SNOMEDCT_2005_07_31:93499002] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188562004] +is_obsolete: true + +[Term] +id: DOID:8836 +name: Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck +synonym: "Burkitt's lymphoma of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188510001] +synonym: "Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:200.21] +is_obsolete: true + +[Term] +id: DOID:8837 +name: Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188565002] +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93515007] +synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.51] +is_obsolete: true + +[Term] +id: DOID:8838 +name: Hodgkin's lymphoma, nodular sclerosis +synonym: "Classical Hodgkin lymphoma, nodular sclerosis" EXACT [SNOMEDCT_2005_07_31:52248008] +synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [] +synonym: "Hodgkin's disease nodular sclerosis NOS" EXACT [MTHICD9_2006:201.5] +synonym: "Hodgkin's disease, nodular sclerosis" RELATED [] +synonym: "Hodgkin's disease, nodular sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:118608000] +synonym: "Hodgkin's disease, nodular sclerosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188573006] +synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:134178004] +synonym: "Hodgkin's disease, nodular sclerosis of unspecified site (disorder)" EXACT [SNOMEDCT_2005_07_31:188564003] +synonym: "NSHL" EXACT [NCI2004_11_17:C3518] +xref: ICD10CM:C81.1 +xref: ICD9CM:201.5 +xref: NCI:C3518 +xref: SNOMEDCT_US_2015_03_01:118608000 +xref: SNOMEDCT_US_2015_03_01:134178004 +xref: SNOMEDCT_US_2015_03_01:188564003 +xref: SNOMEDCT_US_2015_03_01:188573006 +xref: SNOMEDCT_US_2015_03_01:52248008 +xref: UMLS_CUI:C0152268 +is_a: DOID:8567 ! Hodgkin's lymphoma + +[Term] +id: DOID:8839 +name: herpes zoster keratoconjunctivitis +def: "An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain." [url:http\://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false] +synonym: "Herpes zoster keratitis" EXACT [SNOMEDCT_2005_07_31:42448002] +is_obsolete: true + +[Term] +id: DOID:884 +name: metagonimiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm] +synonym: "Infection by Metagonimus yokogawai" EXACT [MTHICD9_2006:121.5] +synonym: "Infection by Metagonimus yokogawai (disorder)" EXACT [SNOMEDCT_2005_07_31:37832003] +xref: ICD10CM:B66.8 +xref: ICD9CM:121.5 +xref: MSH:D014201 +xref: SNOMEDCT_US_2015_03_01:37832003 +xref: UMLS_CUI:C0025530 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:8844 +name: tuberculous erythema nodosum +subset: gram-positive_bacterial_infectious_disease +synonym: "Erythema nodosum with hypersensitivity reaction in tuberculosis" EXACT [ICD9CM_2006:017.1] +synonym: "erythema nodosum with hypersensitivity reaction in tuberculosis" EXACT [] +synonym: "Erythema nodosum with tuberculosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186257009] +synonym: "Erythema nodosum, tuberculous" EXACT [MTHICD9_2006:017.1] +synonym: "Tuberculous erythema nodosum" EXACT [SNOMEDCT_2005_07_31:186256000] +synonym: "Tuberculous erythema nodosum" EXACT [SNOMEDCT_2005_07_31:186255001] +synonym: "Tuberculous erythema nodosum (disorder)" EXACT [SNOMEDCT_2005_07_31:74610006] +is_obsolete: true + +[Term] +id: DOID:8847 +name: Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites" EXACT [SNOMEDCT_2005_07_31:93517004] +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188572001] +synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites" RELATED [] +synonym: "nodular Sclerosis Hodgkin's Lymphoma stage III" EXACT [NCI2004_11_17:C3581] +is_obsolete: true + +[Term] +id: DOID:8849 +name: sublingual gland cancer +def: "A salivary gland cancer that is located_in the sublingual gland." [url:http\://en.wikipedia.org/wiki/Sublingual_gland] +synonym: "malignant tumor of sublingual gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363381003] +synonym: "malignant tumor of the Sublingual gland" EXACT [NCI2004_11_17:C3527] +xref: ICD10CM:C08.1 +xref: ICD9CM:142.2 +xref: NCI:C3527 +xref: SNOMEDCT_US_2015_03_01:363381003 +xref: SNOMEDCT_US_2015_03_01:94076001 +xref: UMLS_CUI:C0153361 +is_a: DOID:8850 ! salivary gland cancer + +[Term] +id: DOID:885 +name: fascioliasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm] +synonym: "Fasciola hepatica infection (disorder)" EXACT [SNOMEDCT_2005_07_31:82308007] +synonym: "Infection by Fasciola (disorder)" EXACT [SNOMEDCT_2005_07_31:111922007] +synonym: "Liver flukes NOS" EXACT [MTHICD9_2006:121.3] +synonym: "Liver flukes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:240799001] +synonym: "Sheep liver fluke infection" EXACT [SNOMEDCT_2005_07_31:187125007] +xref: ICD10CM:B66.3 +xref: ICD9CM:121.3 +xref: MSH:D005211 +xref: SNOMEDCT_US_2015_03_01:111922007 +xref: SNOMEDCT_US_2015_03_01:187125007 +xref: UMLS_CUI:C0015652 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:8850 +name: salivary gland cancer +alt_id: DOID:8873 +alt_id: DOID:9148 +def: "An oral cavity cancer that is located_in the salivary gland." [url:http\://www.cancer.gov/dictionary?CdrID=446528] +subset: TopNodes_DOcancerslim +synonym: "malignant neoplasm of major salivary gland" EXACT [MTH:U001373] +synonym: "malignant neoplasm of salivary gland" EXACT [MTH:NOCODE] +synonym: "malignant neoplasm of salivary gland duct" EXACT [SNOMEDCT_2005_07_31:109828002] +synonym: "malignant tumor of the Major Salivary gland" EXACT [NCI2004_11_17:C4762] +synonym: "malignant tumor of the Salivary gland" EXACT [NCI2004_11_17:C3811] +xref: ICD10CM:C08 +xref: ICD9CM:142.8 +xref: SNOMEDCT_US_2015_03_01:187648003 +xref: UMLS_CUI:C0153362 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8852 +name: Hodgkin's granuloma involving intra-abdominal lymph nodes +synonym: "Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93529008] +synonym: "Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188536008] +is_obsolete: true + +[Term] +id: DOID:8854 +name: Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes +synonym: "Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93486000] +synonym: "Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188586002] +synonym: "Hodgkin's disease, lymphocytic depletion, involving intrathoracic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8857 +name: lupus erythematosus +synonym: "lupus" EXACT [NCI2004_11_17:C27153] +synonym: "Lupus Erythematosus" EXACT [MTH:NOCODE] +synonym: "Lupus erythematosus (disorder)" EXACT [SNOMEDCT_2005_07_31:200936003] +synonym: "Lupus erythematosus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200944003] +xref: ICD10CM:L93 +xref: ICD10CM:L93.0 +xref: ICD9CM:695.4 +xref: NCI:C27153 +xref: SNOMEDCT_US_2015_03_01:200936003 +xref: SNOMEDCT_US_2015_03_01:200944003 +xref: UMLS_CUI:C0409974 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:8858 +name: tonsil cancer +synonym: "malignant neoplasm of faucial tonsil (disorder)" EXACT [SNOMEDCT_2005_07_31:187671001] +synonym: "malignant neoplasm of palatine tonsil (disorder)" EXACT [SNOMEDCT_2005_07_31:187672008] +synonym: "malignant neoplasm of tonsil, faucial" EXACT [MTHICD9_2006:146.0] +synonym: "malignant Tonsillar tumor" EXACT [NCI2004_11_17:C7404] +synonym: "malignant tumor of tonsil (disorder)" EXACT [SNOMEDCT_2005_07_31:363393007] +xref: ICD10CM:C09 +xref: ICD10CM:C09.9 +xref: ICD9CM:146.0 +xref: MSH:D014067 +xref: NCI:C7404 +xref: SNOMEDCT_US_2015_03_01:187671001 +xref: SNOMEDCT_US_2015_03_01:187672008 +xref: SNOMEDCT_US_2015_03_01:187674009 +xref: SNOMEDCT_US_2015_03_01:363393007 +xref: SNOMEDCT_US_2015_03_01:93937006 +xref: UMLS_CUI:C0751560 +is_a: DOID:8557 ! oropharynx cancer + +[Term] +id: DOID:8860 +name: lymphosarcoma involving spleen +is_obsolete: true + +[Term] +id: DOID:8861 +name: pulmonary subvalvular stenosis +synonym: "Congenital Infundibular Stenosis" EXACT [NCI2004_11_17:C34961] +synonym: "Infundibular pulmonic stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:3192005] +synonym: "Infundibular pulmonic stenosis, congenital" EXACT [ICD9CM_2006:746.83] +synonym: "pulmonary infundibular stenosis (disorder)" EXACT [SNOMEDCT_2005_07_31:204370002] +synonym: "Subvalvular pulmonic stenosis" EXACT [MTHICD9_2006:746.83] +xref: ICD10CM:Q24.3 +xref: ICD9CM:746.83 +xref: MSH:D011662 +xref: NCI:C34961 +xref: SNOMEDCT_US_2015_03_01:204370002 +xref: SNOMEDCT_US_2015_03_01:3192005 +xref: UMLS_CUI:C0034084 +is_a: DOID:6420 ! pulmonary valve stenosis + +[Term] +id: DOID:8864 +name: acute monocytic leukemia +alt_id: DOID:9208 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "acute Monoblastic Leukemia and acute Monocytic Leukemia" EXACT [NCI2004_11_17:C7318] +synonym: "acute monocytic leukemia without mention of remission" EXACT [] +synonym: "acute monocytic leukemia, FAB M5 (disorder)" EXACT [SNOMEDCT_2005_07_31:91859000] +synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:22331004] +xref: CSP:2004-2820 +xref: ICD9CM:206.0 +xref: MSH:D007948 +xref: OMIM:151380 +xref: SNOMEDCT_US_2015_03_01:154594005 +xref: SNOMEDCT_US_2015_03_01:22331004 +xref: SNOMEDCT_US_2015_03_01:413441006 +xref: SNOMEDCT_US_2015_03_01:91859000 +xref: UMLS_CUI:C0023465 +is_a: DOID:8527 ! monocytic leukemia + +[Term] +id: DOID:8866 +name: actinic keratosis +synonym: "actinic (Solar) Keratosis" EXACT [NCI2004_11_17:C3148] +synonym: "actinic keratosis (disorder)" EXACT [SNOMEDCT_2005_07_31:201101007] +synonym: "actinic keratosis (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:856006] +synonym: "Senile hyperkeratosis" EXACT [SNOMEDCT_2005_07_31:156398007] +synonym: "Senile hyperkeratosis" EXACT [SNOMEDCT_2005_07_31:201098008] +synonym: "Senile hyperkeratosis" EXACT [SNOMEDCT_2005_07_31:201106002] +synonym: "SK - Solar keratosis" EXACT [SNOMEDCT_2005_07_31:46795000] +synonym: "Solar keratosis" EXACT [SNOMEDCT_2005_07_31:267860005] +synonym: "Solar keratosis" EXACT [SNOMEDCT_2005_07_31:156400006] +xref: ICD10CM:L57.0 +xref: ICD9CM:702.0 +xref: MSH:D055623 +xref: NCI:C3148 +xref: SNOMEDCT_US_2015_03_01:156395005 +xref: SNOMEDCT_US_2015_03_01:156398007 +xref: SNOMEDCT_US_2015_03_01:156400006 +xref: SNOMEDCT_US_2015_03_01:201096007 +xref: SNOMEDCT_US_2015_03_01:201097003 +xref: SNOMEDCT_US_2015_03_01:201098008 +xref: SNOMEDCT_US_2015_03_01:201101007 +xref: SNOMEDCT_US_2015_03_01:201106002 +xref: SNOMEDCT_US_2015_03_01:201107006 +xref: SNOMEDCT_US_2015_03_01:267858008 +xref: SNOMEDCT_US_2015_03_01:267860005 +xref: SNOMEDCT_US_2015_03_01:46795000 +xref: SNOMEDCT_US_2015_03_01:856006 +xref: UMLS_CUI:C0022602 +is_a: DOID:0060071 ! pre-malignant neoplasm + +[Term] +id: DOID:8867 +name: molluscum contagiosum +def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." [url:http\://en.wikipedia.org/wiki/Molluscum_contagiosum, url:http\://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm] +subset: sexually_transmitted_infectious_disease +xref: ICD10CM:B08.1 +xref: ICD9CM:078.0 +xref: MSH:D008976 +xref: SNOMEDCT_US_2015_03_01:154360009 +xref: SNOMEDCT_US_2015_03_01:40070004 +xref: UMLS_CUI:C0026393 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8868 +name: Mycosis fungoides involving lymph nodes of multiple sites +synonym: "Mycosis fungoides of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188627002] +synonym: "Mycosis fungoides of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:94713008] +is_obsolete: true + +[Term] +id: DOID:8869 +name: neuromyelitis optica +def: "A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord." [url:http\://en.wikipedia.org/wiki/Neuromyelitis_optica] +synonym: "Devic's disease" EXACT [ICD10CM:G36.0] +synonym: "Devic's syndrome" EXACT [] +synonym: "Neuromyelitis optica (disorder)" EXACT [SNOMEDCT_2005_07_31:25044007] +xref: EFO:0004256 +xref: ICD10CM:G36.0 +xref: ICD9CM:341.0 +xref: MSH:D009471 +xref: NCI:C84934 +xref: SNOMEDCT_US_2015_03_01:25044007 +xref: UMLS_CUI:C0027873 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:887 +name: Trematoda infectious disease +def: "A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream." [url:http\://en.wikipedia.org/wiki/Trematoda] +synonym: "Fluke infection" EXACT [SNOMEDCT_2005_07_31:51065006] +synonym: "Trematode infestation" EXACT [SNOMEDCT_2005_07_31:266219000] +is_obsolete: true + +[Term] +id: DOID:8870 +name: nodular lymphoma involving intrathoracic lymph nodes +synonym: "nodular lymphoma of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188610005] +synonym: "nodular lymphoma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95188007] +is_obsolete: true + +[Term] +id: DOID:8871 +name: Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites +synonym: "Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8872 +name: penis carcinoma in situ +synonym: "Bowen's disease of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:398831006] +synonym: "carcinoma in situ of penis (disorder)" EXACT [SNOMEDCT_2005_07_31:92679008] +synonym: "grade III squamous Intraepithelial Lesion of penis" EXACT [NCI2004_11_17:C27790] +synonym: "Penile intraepithelial neoplasia grade III" EXACT [SNOMEDCT_2005_07_31:400092004] +synonym: "Queyrat's erythroplasia" EXACT [SNOMEDCT_2005_07_31:255147003] +synonym: "Queyrat's erythroplasia" EXACT [SNOMEDCT_2005_07_31:255105002] +synonym: "Queyrat's erythroplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:255104003] +synonym: "Queyrat's erythroplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:398768004] +synonym: "Queyrat's erythroplasia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:18348002] +xref: ICD10CM:D00-D09 +xref: ICD10CM:D07.4 +xref: ICD9CM:233.5 +xref: NCI:C27790 +xref: SNOMEDCT_US_2015_03_01:18348002 +xref: SNOMEDCT_US_2015_03_01:189208007 +xref: SNOMEDCT_US_2015_03_01:255104003 +xref: SNOMEDCT_US_2015_03_01:255105002 +xref: SNOMEDCT_US_2015_03_01:255147003 +xref: SNOMEDCT_US_2015_03_01:398768004 +xref: SNOMEDCT_US_2015_03_01:398831006 +xref: SNOMEDCT_US_2015_03_01:400092004 +xref: SNOMEDCT_US_2015_03_01:92679008 +xref: UMLS_CUI:C0154089 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8875 +name: Hodgkin's sarcoma involving lymph nodes of multiple sites +synonym: "Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188551004] +synonym: "Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:93553002] +is_obsolete: true + +[Term] +id: DOID:8876 +name: herpetic vulvovaginitis +def: "A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions." [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false] +synonym: "Herpetic Vulvovaginitis" EXACT [NCI2004_11_17:C34697] +synonym: "Herpetic vulvovaginitis (disorder)" EXACT [SNOMEDCT_2005_07_31:27420004] +is_obsolete: true + +[Term] +id: DOID:888 +name: fasciolopsiasis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm] +synonym: "Infection by Fasciolopsis buski (disorder)" EXACT [SNOMEDCT_2005_07_31:54266002] +synonym: "Infectious Disease by Fasciolopsis" EXACT [MTHICD9_2006:121.4] +xref: ICD10CM:B66.5 +xref: ICD9CM:121.4 +xref: MSH:D014201 +xref: SNOMEDCT_US_2015_03_01:54266002 +xref: UMLS_CUI:C0015656 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:8881 +name: rosacea +synonym: "Acne rosacea (disorder)" EXACT [SNOMEDCT_2005_07_31:1612004] +synonym: "Acne roscea" EXACT [SNOMEDCT_2005_07_31:267849001] +synonym: "Acne roscea" EXACT [SNOMEDCT_2005_07_31:156364003] +synonym: "Acne, erythematosa" EXACT [MTHICD9_2006:695.3] +synonym: "Rosacea (disorder)" EXACT [SNOMEDCT_2005_07_31:398909004] +synonym: "Rosacea NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200935004] +xref: ICD10CM:L71 +xref: ICD10CM:L71.9 +xref: ICD9CM:695.3 +xref: MSH:D012393 +xref: NCI:C97136 +xref: SNOMEDCT_US_2015_03_01:156364003 +xref: SNOMEDCT_US_2015_03_01:1612004 +xref: SNOMEDCT_US_2015_03_01:200930009 +xref: SNOMEDCT_US_2015_03_01:200935004 +xref: SNOMEDCT_US_2015_03_01:267849001 +xref: SNOMEDCT_US_2015_03_01:398909004 +xref: UMLS_CUI:C0035854 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:8883 +name: lower lip cancer +xref: ICD10CM:C00.1 +xref: ICD9CM:140.1 +xref: SNOMEDCT_US_2015_03_01:187603002 +xref: SNOMEDCT_US_2015_03_01:187605009 +xref: SNOMEDCT_US_2015_03_01:363373004 +xref: SNOMEDCT_US_2015_03_01:94136008 +xref: UMLS_CUI:C0432520 +is_a: DOID:8564 ! lip cancer + +[Term] +id: DOID:8886 +name: chorioretinitis +synonym: "Chorioretinitis (& photoretinitis)" EXACT [SNOMEDCT_2005_07_31:155199002] +synonym: "Chorioretinitis (& photoretinitis)" EXACT [SNOMEDCT_2005_07_31:270531006] +synonym: "Chorioretinitis (disorder)" EXACT [SNOMEDCT_2005_07_31:46627006] +synonym: "Chorioretinitis, unspecified" EXACT [ICD9CM_2006:363.20] +synonym: "Other and unspecified forms of chorioretinitis and retinochoroiditis" EXACT [ICD9CM_2006:363.2] +synonym: "Other chorioretinitis and retinochoroiditis (disorder)" EXACT [SNOMEDCT_2005_07_31:193448008] +synonym: "Other chorioretinitis or retinochoroiditis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:193454009] +synonym: "Retinitis and chorioretinitis" EXACT [SNOMEDCT_2005_07_31:193432007] +synonym: "retinochoroiditis" EXACT [CSP2005:1114-9328] +xref: ICD10CM:H30 +xref: ICD10CM:H30.9 +xref: ICD9CM:363.20 +xref: MSH:D002825 +xref: NCI:C110923 +xref: SNOMEDCT_US_2015_03_01:193432007 +xref: SNOMEDCT_US_2015_03_01:270531006 +xref: SNOMEDCT_US_2015_03_01:46627006 +xref: UMLS_CUI:C0008513 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:889 +name: inborn metabolic brain disease +is_obsolete: true + +[Term] +id: DOID:8892 +name: pityriasis rosea +synonym: "Pityriasis circinata" EXACT [MTHICD9_2006:696.3] +synonym: "Pityriasis Rosea" EXACT [NCI2004_11_17:C26855] +synonym: "Pityriasis rosea (disorder)" EXACT [SNOMEDCT_2005_07_31:77252004] +xref: ICD10CM:L42 +xref: ICD9CM:696.3 +xref: MSH:D017515 +xref: NCI:C26855 +xref: SNOMEDCT_US_2015_03_01:156373006 +xref: SNOMEDCT_US_2015_03_01:77252004 +xref: UMLS_CUI:C0032026 +is_a: DOID:8893 ! psoriasis + +[Term] +id: DOID:8893 +name: psoriasis +comment: Xref MGI.\nUpdate outdated UMLS CUI from C00295134 to C0033860. +subset: DO_MGI_slim +xref: EFO:0000676 +xref: ICD10CM:L40 +xref: ICD10CM:L40.9 +xref: MSH:D011565 +xref: NCI:C3346 +xref: OMIM:177900 +xref: OMIM:601454 +xref: OMIM:602723 +xref: OMIM:603935 +xref: OMIM:604316 +xref: OMIM:605364 +xref: OMIM:605606 +xref: OMIM:607857 +xref: OMIM:610707 +xref: OMIM:612410 +xref: OMIM:612599 +xref: OMIM:612950 +xref: OMIM:614070 +xref: SNOMEDCT_US_2015_03_01:156369008 +xref: SNOMEDCT_US_2015_03_01:156371008 +xref: SNOMEDCT_US_2015_03_01:200961000 +xref: SNOMEDCT_US_2015_03_01:200978009 +xref: SNOMEDCT_US_2015_03_01:267851002 +xref: SNOMEDCT_US_2015_03_01:9014002 +xref: UMLS_CUI:C0033860 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:890 +name: mitochondrial encephalomyopathy +xref: MSH:D017237 +xref: SNOMEDCT_US_2015_03_01:447292006 +xref: UMLS_CUI:C0162666 +is_a: DOID:699 ! mitochondrial myopathy + +[Term] +id: DOID:8903 +name: Hodgkin's granuloma involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188537004] +synonym: "Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93532006] +is_obsolete: true + +[Term] +id: DOID:8904 +name: nodular lymphoma involving lymph nodes of inguinal region and lower limb +synonym: "nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:95191007] +synonym: "nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188613007] +is_obsolete: true + +[Term] +id: DOID:8906 +name: herpes zoster otitis externa +def: "A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge." [url:http\://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false] +synonym: "Herpes zoster otitis externa" EXACT [SNOMEDCT_2005_07_31:21954000] +synonym: "Otitis externa due to Herpes zoster (disorder)" EXACT [SNOMEDCT_2005_07_31:36292003] +is_obsolete: true + +[Term] +id: DOID:8907 +name: ulcerative proctitis +synonym: "chronic ulcerative proctitis" EXACT [MTHICD9_2006:556.2] +synonym: "chronic ulcerative proctitis (disorder)" EXACT [SNOMEDCT_2005_07_31:52231000] +synonym: "Nonspecific ulcerative proctitis (disorder)" EXACT [SNOMEDCT_2005_07_31:67038005] +synonym: "ulcerative (chronic) proctitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:891 +name: progressive myoclonus epilepsy +comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping submitted by NeuroDevNet. [LS]. +synonym: "PME" EXACT [] +synonym: "progressive myoclonic epilepsy" EXACT [MTHICD9_2006:333.2] +synonym: "progressive myoclonic epilepsy" EXACT [SNOMEDCT_2005_07_31:192844008] +synonym: "progressive myoclonic epilepsy (disorder)" EXACT [SNOMEDCT_2005_07_31:267581004] +synonym: "progressive myoclonic epilepsy (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:89480000] +synonym: "progressive Myoclonus epilepsy" EXACT [NCI2004_11_17:C7636] +xref: MSH:D020191 +xref: NCI:C7636 +xref: OMIM:254900 +xref: OMIM:310370 +xref: OMIM:611726 +xref: OMIM:612437 +xref: OMIM:613832 +xref: OMIM:614018 +xref: SNOMEDCT_US_2015_03_01:192844008 +xref: SNOMEDCT_US_2015_03_01:267581004 +xref: SNOMEDCT_US_2015_03_01:89480000 +xref: UMLS_CUI:C0751778 +is_a: DOID:0050706 ! variable age at onset electroclinical syndrome + +[Term] +id: DOID:8912 +name: tinea nigra +def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html] +synonym: "Infection by Cladosporium werneckii" EXACT [SNOMEDCT_2005_07_31:183342005] +synonym: "Keratomycosis nigricans" EXACT [SNOMEDCT_2005_07_31:266153005] +synonym: "microsporosis nigra" RELATED [] +synonym: "Tinea palmaris nigra" EXACT [SNOMEDCT_2005_07_31:184346000] +xref: ICD10CM:B36.1 +xref: ICD9CM:111.1 +xref: SNOMEDCT_US_2015_03_01:1022006 +xref: SNOMEDCT_US_2015_03_01:183342005 +xref: SNOMEDCT_US_2015_03_01:184346000 +xref: SNOMEDCT_US_2015_03_01:185367005 +xref: SNOMEDCT_US_2015_03_01:186289000 +xref: SNOMEDCT_US_2015_03_01:187000000 +xref: SNOMEDCT_US_2015_03_01:266153005 +xref: UMLS_CUI:C0152067 +is_a: DOID:0050133 ! superficial mycosis + +[Term] +id: DOID:8913 +name: dermatophytosis +def: "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html] +xref: ICD10CM:B35 +xref: ICD10CM:B35.9 +xref: ICD9CM:110 +xref: ICD9CM:110.9 +xref: NCI:C26745 +xref: SNOMEDCT_US_2015_03_01:154394006 +xref: SNOMEDCT_US_2015_03_01:186984003 +xref: SNOMEDCT_US_2015_03_01:186998006 +xref: SNOMEDCT_US_2015_03_01:187474000 +xref: SNOMEDCT_US_2015_03_01:266214005 +xref: SNOMEDCT_US_2015_03_01:47382004 +xref: UMLS_CUI:C0011636 +is_a: DOID:0050134 ! cutaneous mycosis + +[Term] +id: DOID:8914 +name: Burkitt's tumor or lymphoma involving intrapelvic lymph nodes +synonym: "Burkitt's lymphoma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188515006] +is_obsolete: true + +[Term] +id: DOID:8915 +name: herpes zoster meningitis +def: "A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions." [url:http\://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf] +is_obsolete: true + +[Term] +id: DOID:8916 +name: mycosis fungoides involving lymph nodes of axilla and upper limb +is_obsolete: true + +[Term] +id: DOID:8918 +name: Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188548006] +synonym: "Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93552007] +is_obsolete: true + +[Term] +id: DOID:8919 +name: Mycosis fungoides involving lymph nodes of inguinal region and lower limb +synonym: "Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188624009] +synonym: "Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:94712003] +is_obsolete: true + +[Term] +id: DOID:8920 +name: leukoplakia of vagina +synonym: "Leukoplakia of vagina (disorder)" EXACT [SNOMEDCT_2005_07_31:111420009] +synonym: "vaginal Leukoplakia" EXACT [NCI2004_11_17:C3663] +xref: ICD10CM:N89.4 +xref: ICD9CM:623.1 +xref: NCI:C3663 +xref: SNOMEDCT_US_2015_03_01:111420009 +xref: UMLS_CUI:C0156385 +is_a: DOID:121 ! vaginal disease + +[Term] +id: DOID:8921 +name: noninflammatory vaginal disorder +is_obsolete: true + +[Term] +id: DOID:8923 +name: skin melanoma +alt_id: DOID:0050609 +alt_id: DOID:10043 +alt_id: DOID:10046 +alt_id: DOID:10051 +alt_id: DOID:10052 +alt_id: DOID:10055 +alt_id: DOID:8922 +def: "A skin cancer that has_material_basis_in melanocytes." [url:http\://cancergenome.nih.gov/cancersselected/melanoma, url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.cancer.gov/dictionary?CdrID=45135] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "cutaneous melanoma" EXACT [] +synonym: "malignant ear melanoma" EXACT [] +synonym: "malignant lip melanoma" EXACT [] +synonym: "malignant lower limb melanoma" EXACT [] +synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [] +synonym: "malignant melanoma of skin of lower limb" EXACT [] +synonym: "malignant melanoma of skin of trunk except scrotum" EXACT [] +synonym: "malignant melanoma of skin of upper limb" EXACT [] +synonym: "malignant neck melanoma" EXACT [] +synonym: "malignant scalp melanoma" EXACT [] +synonym: "malignant trunk melanoma" EXACT [] +synonym: "malignant upper limb melanoma" EXACT [] +xref: ICD10CM:C43 +xref: ICD10CM:C43.0 +xref: ICD10CM:C43.2 +xref: ICD10CM:C43.4 +xref: ICD10CM:C43.9 +xref: ICD9CM:172 +xref: ICD9CM:172.0 +xref: ICD9CM:172.2 +xref: ICD9CM:172.4 +xref: ICD9CM:172.5 +xref: ICD9CM:172.9 +xref: MSH:C562393 +xref: NCI:C3510 +xref: OMIM:608035 +xref: OMIM:609048 +xref: OMIM:612263 +xref: OMIM:613099 +xref: OMIM:613972 +xref: OMIM:614456 +xref: OMIM:615134 +xref: OMIM:615848 +xref: SNOMEDCT_US_2015_03_01:154501005 +xref: SNOMEDCT_US_2015_03_01:154506000 +xref: SNOMEDCT_US_2015_03_01:188030005 +xref: SNOMEDCT_US_2015_03_01:188032002 +xref: SNOMEDCT_US_2015_03_01:188035000 +xref: SNOMEDCT_US_2015_03_01:188044004 +xref: SNOMEDCT_US_2015_03_01:188047006 +xref: SNOMEDCT_US_2015_03_01:188082007 +xref: SNOMEDCT_US_2015_03_01:190105009 +xref: SNOMEDCT_US_2015_03_01:269577007 +xref: SNOMEDCT_US_2015_03_01:93640008 +xref: SNOMEDCT_US_2015_03_01:93641007 +xref: SNOMEDCT_US_2015_03_01:93653006 +xref: SNOMEDCT_US_2015_03_01:93655004 +xref: UMLS_CUI:C0151779 +xref: UMLS_CUI:C0153529 +xref: UMLS_CUI:C0153535 +xref: UMLS_CUI:C0153536 +xref: UMLS_CUI:C0346773 +xref: UMLS_CUI:C0346782 +xref: UMLS_CUI:C1112782 +is_a: DOID:4159 ! skin cancer + +[Term] +id: DOID:8924 +name: autoimmune thrombocytopenic purpura +alt_id: DOID:0050124 +alt_id: DOID:2220 +def: "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." [sn:IEDB] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Autoimmune thrombocytopenic purpura" EXACT [SNOMEDCT_2005_07_31:13172003] +synonym: "Ideopath thrombocytopenic pur" RELATED [SNOMEDCT_2005_07_31:154825008] +synonym: "Idiopathic purpura" RELATED [SNOMEDCT_2005_07_31:191315003] +synonym: "idiopathic thrombocytopenic purpura" EXACT [] +synonym: "Immune thrombocytopenic purpura (disorder)" EXACT [SNOMEDCT_2005_07_31:234490009] +synonym: "primary thrombocytopenic purpura" EXACT [] +synonym: "werlhof's disease" RELATED [] +xref: ICD10CM:D69.3 +xref: ICD9CM:287.31 +xref: MSH:D016553 +xref: NCI:C3446 +xref: OMIM:188030 +xref: SNOMEDCT_US_2015_03_01:13172003 +xref: SNOMEDCT_US_2015_03_01:154825008 +xref: SNOMEDCT_US_2015_03_01:191315003 +xref: SNOMEDCT_US_2015_03_01:191316002 +xref: SNOMEDCT_US_2015_03_01:234490009 +xref: SNOMEDCT_US_2015_03_01:267567001 +xref: SNOMEDCT_US_2015_03_01:32273002 +xref: UMLS_CUI:C0398650 +is_a: DOID:8925 ! primary thrombocytopenia + +[Term] +id: DOID:8925 +name: primary thrombocytopenia +alt_id: DOID:8945 +xref: ICD10CM:D69.4 +xref: ICD10CM:D69.49 +xref: ICD9CM:287.39 +xref: SNOMEDCT_US_2015_03_01:191435001 +xref: UMLS_CUI:C0477317 +is_a: DOID:0060050 ! autoimmune disease of blood + +[Term] +id: DOID:8927 +name: learning disability +alt_id: DOID:2847 +def: "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information." [url:http\://en.wikipedia.org/wiki/Learning_disability, url:http\://www.ldonline.org/ldbasics/whatisld] +synonym: "Academic skill disorder" EXACT [SNOMEDCT_2005_07_31:1855002] +synonym: "learning disorder" EXACT [CSP2005:2483-6402] +xref: ICD10CM:F81.9 +xref: MSH:D007859 +xref: NCI:C89334 +xref: SNOMEDCT_US_2015_03_01:154973004 +xref: SNOMEDCT_US_2015_03_01:154974005 +xref: SNOMEDCT_US_2015_03_01:1855002 +xref: SNOMEDCT_US_2015_03_01:192531005 +xref: SNOMEDCT_US_2015_03_01:247576004 +xref: SNOMEDCT_US_2015_03_01:367332004 +xref: SNOMEDCT_US_2015_03_01:389991004 +xref: UMLS_CUI:C0023186 +xref: UMLS_CUI:C0751265 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:8928 +name: lymphosarcoma involving lymph nodes of head, face, and neck +is_obsolete: true + +[Term] +id: DOID:8929 +name: atrophic gastritis +alt_id: DOID:9048 +alt_id: DOID:9083 +synonym: "gastric atrophy" EXACT [NCI2004_11_17:C7405] +xref: ICD10CM:K29.4 +xref: ICD9CM:535.1 +xref: ICD9CM:535.11 +xref: MSH:D005757 +xref: NCI:C7405 +xref: NCI:C95752 +xref: SNOMEDCT_US_2015_03_01:155713006 +xref: SNOMEDCT_US_2015_03_01:196733008 +xref: SNOMEDCT_US_2015_03_01:270533009 +xref: SNOMEDCT_US_2015_03_01:84568007 +xref: UMLS_CUI:C0017154 +xref: UMLS_CUI:C0156073 +is_a: DOID:4029 ! gastritis + +[Term] +id: DOID:893 +name: Wilson disease +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Cerebral pseudosclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:192640001] +synonym: "hepatolenticular degeneration" EXACT [] +synonym: "Westphal pseudosclerosis" EXACT [CSP2005:1849-4349] +synonym: "Westphal-Strumpell syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:190823004] +synonym: "Wilson's disease" EXACT [MTHICD9_2006:275.1] +synonym: "Wilson's disease" EXACT [SNOMEDCT_2005_07_31:154751003] +synonym: "Wilson's disease" EXACT [SNOMEDCT_2005_07_31:267504005] +synonym: "Wilson's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:88518009] +synonym: "Wilson's disease * (disorder)" EXACT [SNOMEDCT_2005_07_31:191710006] +xref: ICD10CM:E83.01 +xref: MSH:D006527 +xref: NCI:C84756 +xref: OMIM:277900 +xref: SNOMEDCT_US_2015_03_01:154751003 +xref: SNOMEDCT_US_2015_03_01:190823004 +xref: SNOMEDCT_US_2015_03_01:191710006 +xref: SNOMEDCT_US_2015_03_01:192640001 +xref: SNOMEDCT_US_2015_03_01:267504005 +xref: SNOMEDCT_US_2015_03_01:88518009 +xref: UMLS_CUI:C0019202 +is_a: DOID:409 ! liver disease +is_a: DOID:896 ! metal metabolism disorder + +[Term] +id: DOID:8930 +name: retromolar area cancer +synonym: "malignant tumor of retromolar area (disorder)" EXACT [SNOMEDCT_2005_07_31:363391009] +xref: ICD10CM:C06.2 +xref: ICD9CM:145.6 +xref: SNOMEDCT_US_2015_03_01:363391009 +xref: SNOMEDCT_US_2015_03_01:93989001 +xref: UMLS_CUI:C0153379 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:8931 +name: Evans' syndrome +synonym: "(Thrombocytopenia: [primary] or [idopathic purpuric] or [idiopathic] or [purpuric]) or (Evan's syndrome)" EXACT [SNOMEDCT_2005_07_31:191315003] +synonym: "Evans syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:75331009] +xref: ICD10CM:D69.41 +xref: ICD9CM:287.32 +xref: MSH:C536380 +xref: NCI:C61284 +xref: SNOMEDCT_US_2015_03_01:191315003 +xref: SNOMEDCT_US_2015_03_01:75331009 +xref: UMLS_CUI:C0272126 +is_a: DOID:8925 ! primary thrombocytopenia + +[Term] +id: DOID:8932 +name: herpes zoster iridocyclitis +def: "An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision." [url:http\://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf, url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false] +synonym: "Herpes zoster iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:10698009] +is_obsolete: true + +[Term] +id: DOID:8936 +name: plantar fascial fibromatosis +synonym: "Dupuytren's contracture of foot (disorder)" EXACT [SNOMEDCT_2005_07_31:240032001] +synonym: "Ledderhose's disease" EXACT [NCI2004_11_17:C4680] +synonym: "Plantar fascial fibromatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:13370002] +xref: ICD10CM:M72.2 +xref: ICD9CM:728.71 +xref: MSH:C537000 +xref: NCI:C4680 +xref: SNOMEDCT_US_2015_03_01:13370002 +xref: SNOMEDCT_US_2015_03_01:202882003 +xref: SNOMEDCT_US_2015_03_01:240032001 +xref: UMLS_CUI:C0158360 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:8937 +name: Waldeyer's ring cancer +synonym: "malignant neoplasm of Waldeyer's ring" EXACT [SNOMEDCT_2005_07_31:94144008] +synonym: "malignant tumor of Waldeyer's ring (disorder)" EXACT [SNOMEDCT_2005_07_31:187716008] +synonym: "Waldeyer ring cancer" EXACT [] +xref: ICD10CM:C14.2 +xref: ICD9CM:149.1 +xref: SNOMEDCT_US_2015_03_01:187716008 +xref: SNOMEDCT_US_2015_03_01:94144008 +xref: UMLS_CUI:C0153406 +is_a: DOID:8557 ! oropharynx cancer + +[Term] +id: DOID:8938 +name: reticulosarcoma involving intrathoracic lymph nodes +synonym: "Reticulosarcoma of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188490002] +synonym: "Reticulosarcoma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95226002] +is_obsolete: true + +[Term] +id: DOID:8939 +name: Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188568000] +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93514006] +synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb" RELATED [] +is_obsolete: true + +[Term] +id: DOID:894 +name: nervous system heredodegenerative disease +is_obsolete: true + +[Term] +id: DOID:8941 +name: seborrheic infantile dermatitis +alt_id: DOID:8823 +def: "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." [url:http\://en.wikipedia.org/wiki/Cradle_cap, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] +synonym: "Complement 5 dysfunction" EXACT [SNOMEDCT_2005_07_31:234610001] +synonym: "Complement 5 dysfunction (disorder)" EXACT [SNOMEDCT_2005_07_31:263661007] +synonym: "Complement 5 dysfunction [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:200949008] +synonym: "cradle cap" EXACT [] +synonym: "Generalized seborrheic dermatitis of infants (disorder)" EXACT [SNOMEDCT_2005_07_31:7297005] +synonym: "Infantile seborrheic dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:200776003] +synonym: "Infantile seborrheic dermatitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200777007] +synonym: "Infantile seborrhoeic dermatitis" EXACT [SNOMEDCT_2005_07_31:156336008] +synonym: "Pityriasis capitis (disorder)" EXACT [SNOMEDCT_2005_07_31:400201008] +synonym: "seborrhea capitis" EXACT [] +synonym: "Seborrhea capitis (disorder)" EXACT [SNOMEDCT_2005_07_31:28431005] +synonym: "Seborrhea sicca" EXACT [SNOMEDCT_2005_07_31:77592001] +synonym: "Seborrheic dermatitis (& capitis)" EXACT [SNOMEDCT_2005_07_31:200764003] +synonym: "Seborrheic dermatitis of scalp" EXACT [MTH:NOCODE] +synonym: "Seborrheic dermatitis of scalp (disorder)" EXACT [SNOMEDCT_2005_07_31:156329007] +synonym: "Seborrhoea capitis" EXACT [SNOMEDCT_2005_07_31:201177005] +synonym: "Seborrhoeic dermatitis of scalp" EXACT [SNOMEDCT_2005_07_31:156327009, SNOMEDCT_2005_07_31:200763009] +synonym: "Seborrhoeic eczema of scalp" EXACT [SNOMEDCT_2005_07_31:48596006] +xref: ICD10CM:L21.0 +xref: ICD9CM:690.11 +xref: MSH:D063807 +xref: SNOMEDCT_US_2015_03_01:156327009 +xref: SNOMEDCT_US_2015_03_01:156329007 +xref: SNOMEDCT_US_2015_03_01:200763009 +xref: SNOMEDCT_US_2015_03_01:200764003 +xref: SNOMEDCT_US_2015_03_01:201177005 +xref: SNOMEDCT_US_2015_03_01:28431005 +xref: SNOMEDCT_US_2015_03_01:400201008 +xref: SNOMEDCT_US_2015_03_01:48596006 +xref: SNOMEDCT_US_2015_03_01:77592001 +xref: UMLS_CUI:C0221244 +is_a: DOID:8741 ! seborrheic dermatitis + +[Term] +id: DOID:8943 +name: lattice corneal dystrophy +synonym: "familial amyloid neuropathy, Finnish type (disorder)" EXACT [SNOMEDCT_2005_07_31:1192004] +synonym: "Lattice corneal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:71041007] +synonym: "Lattice corneal dystrophy (disorder)" EXACT [SNOMEDCT_2005_07_31:361199007] +synonym: "Lattice corneal dystrophy [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:193835001] +xref: MSH:C537935 +is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy + +[Term] +id: DOID:8946 +name: severe nonproliferative diabetic retinopathy +synonym: "High risk non proliferative diabetic retinopathy" EXACT [SNOMEDCT_2005_07_31:390720006] +synonym: "High risk non proliferative diabetic retinopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:391178000] +synonym: "Severe NPDR" EXACT [SNOMEDCT_2005_07_31:312905005] +xref: ICD9CM:362.06 +xref: SNOMEDCT_US_2015_03_01:312905005 +xref: SNOMEDCT_US_2015_03_01:390720006 +xref: SNOMEDCT_US_2015_03_01:391178000 +xref: UMLS_CUI:C0730278 +is_a: DOID:8947 ! diabetic retinopathy + +[Term] +id: DOID:8947 +name: diabetic retinopathy +synonym: "Retinal abnormality - diabetes-related" EXACT [SNOMEDCT_2005_07_31:163997001] +xref: ICD9CM:362.0 +xref: MSH:D003930 +xref: NCI:C34538 +xref: SNOMEDCT_US_2015_03_01:141196007 +xref: SNOMEDCT_US_2015_03_01:154678005 +xref: SNOMEDCT_US_2015_03_01:155107006 +xref: SNOMEDCT_US_2015_03_01:163997001 +xref: SNOMEDCT_US_2015_03_01:193353002 +xref: SNOMEDCT_US_2015_03_01:267471001 +xref: SNOMEDCT_US_2015_03_01:309595004 +xref: SNOMEDCT_US_2015_03_01:4855003 +xref: UMLS_CUI:C0011884 +is_a: DOID:2462 ! retinal vascular disease + +[Term] +id: DOID:895 +name: copper metabolism disease +synonym: "Copper disorder" EXACT [SNOMEDCT_2005_07_31:267504005] +synonym: "Copper disorder" EXACT [SNOMEDCT_2005_07_31:154751003] +synonym: "disorder of copper metabolism" EXACT [ICD9CM_2006:275.1] +synonym: "disorder of copper metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:79886009] +synonym: "disorder of copper metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190854000] +is_obsolete: true + +[Term] +id: DOID:8955 +name: sideroblastic anemia +def: "An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)." [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] +synonym: "ANEMIA SIDEROBLASTIC" EXACT [MTH:NOCODE] +synonym: "Anemia, hypochromic with iron loading" EXACT [MTHICD9_2006:285.0] +xref: ICD10CM:D64.3 +xref: ICD9CM:285.0 +xref: MSH:D000756 +xref: NCI:C36078 +xref: SNOMEDCT_US_2015_03_01:154810008 +xref: SNOMEDCT_US_2015_03_01:191263002 +xref: SNOMEDCT_US_2015_03_01:41841004 +xref: UMLS_CUI:C0002896 +is_a: DOID:12449 ! aplastic anemia + +[Term] +id: DOID:8956 +name: cowpox +def: "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." [url:http\://emedicine.medscape.com/article/1131886-overview] +subset: zoonotic_infectious_disease +synonym: "yaba" EXACT [CSP2005:3100-0734] +xref: ICD10CM:B08.010 +xref: ICD9CM:051.01 +xref: MSH:D015605 +xref: SNOMEDCT_US_2015_03_01:154344005 +xref: SNOMEDCT_US_2015_03_01:266193008 +xref: SNOMEDCT_US_2015_03_01:70090004 +xref: UMLS_CUI:C0010232 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8958 +name: lymphosarcoma involving lymph nodes of axilla and upper limb +is_obsolete: true + +[Term] +id: DOID:8959 +name: Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb +is_obsolete: true + +[Term] +id: DOID:896 +name: metal metabolism disorder +def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism] +synonym: "inborn metal metabolism disorder" EXACT [CSP2005:4000-0215] +xref: MSH:D008664 +xref: UMLS_CUI:C0025534 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:8962 +name: Measles virus keratoconjunctivitis +def: "A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness." [url:http\://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false] +is_obsolete: true + +[Term] +id: DOID:8964 +name: Hodgkin's sarcoma involving spleen +synonym: "Hodgkin's sarcoma of spleen" EXACT [SNOMEDCT_2005_07_31:188550003] +synonym: "Hodgkin's sarcoma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93554008] +is_obsolete: true + +[Term] +id: DOID:8969 +name: tonsillar fossa cancer +synonym: "malignant neoplasm of tonsillar fossa NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187680001] +synonym: "malignant tumor of tonsillar fossa" EXACT [MTH:U001012] +synonym: "malignant tumor of tonsillar fossa (disorder)" EXACT [SNOMEDCT_2005_07_31:363394001] +xref: ICD10CM:C09.0 +xref: ICD9CM:146.1 +xref: SNOMEDCT_US_2015_03_01:187680001 +xref: SNOMEDCT_US_2015_03_01:363394001 +xref: SNOMEDCT_US_2015_03_01:94102002 +xref: UMLS_CUI:C0153384 +is_a: DOID:8557 ! oropharynx cancer + +[Term] +id: DOID:8970 +name: subacute sclerosing panencephalitis +def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself)." [url:http\://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis] +synonym: "Immunosuppressive measles encephalitis" EXACT [SNOMEDCT_2005_07_31:416154000] +synonym: "subacute sclerosing leukoencephalopathy" EXACT [CSP2005:2042-2360] +synonym: "Subacute Sclerosing Panencephalitis" EXACT [MTH:NOCODE] +synonym: "Subacute sclerosing panencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:192685000] +synonym: "Subacute sclerosing panencephalitis (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:84196008] +synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [MTHICD9_2006:046.2] +synonym: "Van Bogaert's sclerosing leukoencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:359686005] +xref: ICD10CM:A81.1 +xref: ICD9CM:046.2 +xref: MSH:D013344 +xref: NCI:C85171 +xref: OMIM:260470 +xref: SNOMEDCT_US_2015_03_01:186484007 +xref: SNOMEDCT_US_2015_03_01:192685000 +xref: SNOMEDCT_US_2015_03_01:359686005 +xref: SNOMEDCT_US_2015_03_01:416154000 +xref: SNOMEDCT_US_2015_03_01:84196008 +xref: UMLS_CUI:C0038522 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:8973 +name: Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites +synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites" RELATED [] +synonym: "mixed cellularity Hodgkin's disease stage III" EXACT [NCI2004_11_17:C3582] +is_obsolete: true + +[Term] +id: DOID:8974 +name: Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb +synonym: "Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188513004] +is_obsolete: true + +[Term] +id: DOID:8976 +name: peripheral lymph node tuberculosis +subset: gram-positive_bacterial_infectious_disease +synonym: "tuberculosis of peripheral lymph nodes" EXACT [] +synonym: "Tuberculosis of peripheral lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:77038006] +synonym: "Tuberculosis of peripheral lymph nodes NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:186261003] +synonym: "Tuberculosis of peripheral lymph nodes, unspecified examination" EXACT [ICD9CM_2006:017.20] +is_obsolete: true + +[Term] +id: DOID:8977 +name: malignant histiocytosis involving lymph nodes of head, face, and neck +synonym: "malignant histiocytosis involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:202.31] +synonym: "malignant histiocytosis of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188640007] +synonym: "malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93186009] +is_obsolete: true + +[Term] +id: DOID:8978 +name: Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188569008] +synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93516008] +synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb" RELATED [] +is_obsolete: true + +[Term] +id: DOID:8979 +name: Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes +synonym: "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93485001] +synonym: "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188591001] +synonym: "Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:898 +name: polycystic kidney disease +def: "An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium." [url:en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, url:kidney.niddk.nih.gov/kudiseases/pubs/polycystic] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nUpdating outdated UMLS CUI. \nRemoving Caroli disease as a synonym as this is a distinct disease. +subset: DO_MGI_slim +synonym: "Congenital biliary ectasias" EXACT [SNOMEDCT_2005_07_31:111331000] +synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT [] +xref: ICD10CM:Q61.3 +xref: ICD9CM:753.12 +xref: MSH:D007690 +xref: NCI:C75464 +xref: OMIM:173900 +xref: OMIM:263200 +xref: OMIM:600666 +xref: OMIM:613095 +xref: ORDO:730 +xref: ORDO:731 +xref: SNOMEDCT_US_2015_03_01:156973002 +xref: SNOMEDCT_US_2015_03_01:204954005 +xref: SNOMEDCT_US_2015_03_01:204955006 +xref: SNOMEDCT_US_2015_03_01:204956007 +xref: SNOMEDCT_US_2015_03_01:268233005 +xref: SNOMEDCT_US_2015_03_01:268332003 +xref: UMLS_CUI:C0022680 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:8980 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen" RELATED [] +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93500006] +synonym: "Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188561006] +is_obsolete: true + +[Term] +id: DOID:8986 +name: narcolepsy +alt_id: DOID:8985 +def: "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work." [url:http\://en.wikipedia.org/wiki/Narcolepsy] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "Narcolepsy, without cataplexy" EXACT [] +synonym: "paroxysmal sleep" EXACT [CSP2005:2056-7716] +xref: EFO:0000614 +xref: ICD10CM:G47.41 +xref: ICD10CM:G47.419 +xref: ICD9CM:347.0 +xref: MSH:D009290 +xref: NCI:C84489 +xref: OMIM:161400 +xref: OMIM:605841 +xref: OMIM:609039 +xref: OMIM:612417 +xref: OMIM:612851 +xref: OMIM:614223 +xref: OMIM:614250 +xref: ORDO:2073 +xref: SNOMEDCT_US_2015_03_01:155059003 +xref: SNOMEDCT_US_2015_03_01:267702006 +xref: SNOMEDCT_US_2015_03_01:60380001 +xref: UMLS_CUI:C0027404 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:899 +name: choledochal cyst +synonym: "Congenital choledochal cyst" EXACT [MTHICD9_2006:751.69] +synonym: "Congenital choledochal cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:398197009] +synonym: "Congenital choledochal cyst (disorder)" EXACT [SNOMEDCT_2005_07_31:30533003] +xref: ICD10CM:Q44.4 +xref: MSH:D015529 +xref: NCI:C2943 +xref: SNOMEDCT_US_2015_03_01:30533003 +xref: SNOMEDCT_US_2015_03_01:397868007 +xref: SNOMEDCT_US_2015_03_01:398197009 +xref: UMLS_CUI:C0008340 +is_a: DOID:4138 ! bile duct disease + +[Term] +id: DOID:8990 +name: Hodgkin's granuloma involving lymph nodes of multiple sites +synonym: "Hodgkin's granuloma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:93535008] +synonym: "Hodgkin's granuloma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188541000] +is_obsolete: true + +[Term] +id: DOID:8991 +name: cervix uteri carcinoma in situ +synonym: "carcinoma in situ of cervix" EXACT [SNOMEDCT_2005_07_31:252990005] +synonym: "carcinoma in situ of cervix" EXACT [SNOMEDCT_2005_07_31:269491003] +synonym: "carcinoma in situ of uterine cervix" EXACT [MTH:NOCODE] +synonym: "carcinoma in situ of uterine cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:92564006] +synonym: "carcinoma of cervix stage 0 (disorder)" EXACT [SNOMEDCT_2005_07_31:254889004] +synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:252991009] +synonym: "Cervix Ca in situ" EXACT [SNOMEDCT_2005_07_31:154637008] +synonym: "Cervix Ca in situ" EXACT [SNOMEDCT_2005_07_31:269649008] +synonym: "CIN III" EXACT [SNOMEDCT_2005_07_31:22725004] +synonym: "CIN III - carcinoma in situ of cervix" EXACT [SNOMEDCT_2005_07_31:189339007] +synonym: "CIN III - severe dyskaryosis" EXACT [SNOMEDCT_2005_07_31:145597000] +synonym: "CIN III - severe dyskaryosis" EXACT [SNOMEDCT_2005_07_31:168405008] +synonym: "Severe dysplasia of cervix" EXACT [MTHICD9_2006:233.1] +synonym: "Severe Dysplasia of the Cervix Uteri" EXACT [NCI2004_11_17:C4000] +synonym: "squamous intraepithelial neoplasia, grade III" EXACT [SNOMEDCT_2005_07_31:20365006] +xref: ICD10CM:D06 +xref: ICD10CM:D06.9 +xref: ICD9CM:233.1 +xref: MSH:D018290 +xref: NCI:C4000 +xref: SNOMEDCT_US_2015_03_01:145597000 +xref: SNOMEDCT_US_2015_03_01:154637008 +xref: SNOMEDCT_US_2015_03_01:168405008 +xref: SNOMEDCT_US_2015_03_01:189339007 +xref: SNOMEDCT_US_2015_03_01:20365006 +xref: SNOMEDCT_US_2015_03_01:22725004 +xref: SNOMEDCT_US_2015_03_01:252990005 +xref: SNOMEDCT_US_2015_03_01:252991009 +xref: SNOMEDCT_US_2015_03_01:254889004 +xref: SNOMEDCT_US_2015_03_01:269491003 +xref: SNOMEDCT_US_2015_03_01:269649008 +xref: SNOMEDCT_US_2015_03_01:92564006 +xref: UMLS_CUI:C0851140 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:8992 +name: Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188538009] +synonym: "Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93534007] +is_obsolete: true + +[Term] +id: DOID:8994 +name: Hodgkin's sarcoma involving lymph nodes of head, face, and neck +synonym: "Hodgkin's sarcoma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.21] +synonym: "Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188544008] +synonym: "Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93551000] +is_obsolete: true + +[Term] +id: DOID:8995 +name: malignant histiocytosis involving intra-abdominal lymph nodes +is_obsolete: true + +[Term] +id: DOID:8997 +name: polycythemia vera +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Erythremia (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:278190000] +synonym: "Osler-Vaquez syndrome" EXACT [SNOMEDCT_2005_07_31:109992005] +synonym: "Polycythaemia rubra vera" EXACT [SNOMEDCT_2005_07_31:154644004] +synonym: "Proliferative polycythaemia" EXACT [SNOMEDCT_2005_07_31:128841001] +xref: ICD10CM:D45 +xref: ICD9CM:238.4 +xref: MSH:D011087 +xref: NCI:C3336 +xref: OMIM:263300 +xref: SNOMEDCT_US_2015_03_01:109992005 +xref: SNOMEDCT_US_2015_03_01:128841001 +xref: SNOMEDCT_US_2015_03_01:134182002 +xref: SNOMEDCT_US_2015_03_01:154644004 +xref: SNOMEDCT_US_2015_03_01:269652000 +xref: SNOMEDCT_US_2015_03_01:278190000 +xref: SNOMEDCT_US_2015_03_01:31569001 +xref: UMLS_CUI:C0032463 +is_a: DOID:8432 ! polycythemia + +[Term] +id: DOID:90 +name: degenerative disc disease +alt_id: DOID:7943 +def: "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc." [url:http\://en.wikipedia.org/wiki/Degenerative_disc_disease, url:http\://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx, url:http\://www.medicinenet.com/degenerative_disc/article.htm, url:http\://www.spine-health.com/conditions/degenerative-disc-disease/what-degenerative-disc-disease] +synonym: "cervical disc degenerative disease" EXACT [NCI2004_11_17:C27156] +synonym: "intervertebral disc degeneration" EXACT [] +synonym: "lumbar disc degeneration" EXACT [] +synonym: "vertebral disc disease" EXACT [] +xref: EFO:0004994 +xref: NCI:C27156 +xref: SNOMEDCT_US_2015_03_01:156633005 +xref: UMLS_CUI:C0410606 +is_a: DOID:0080007 ! bone deterioration disease + +[Term] +id: DOID:900 +name: hepatopulmonary syndrome +synonym: "Hepatopulmonary syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:371067004] +xref: ICD10CM:K76.81 +xref: ICD9CM:573.5 +xref: MSH:D020065 +xref: SNOMEDCT_US_2015_03_01:371067004 +xref: UMLS_CUI:C0600452 +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:9001 +name: Hodgkin's lymphoma, nodular sclerosis, involving spleen +synonym: "Hodgkin's disease, nodular sclerosis of spleen" EXACT [SNOMEDCT_2005_07_31:188571008] +synonym: "Hodgkin's disease, nodular sclerosis of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93518009] +synonym: "Hodgkin's disease, nodular sclerosis, involving spleen" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9007 +name: sudden infant death syndrome +def: "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation." [url:http\://en.wikipedia.org/wiki/Sudden_infant_death_syndrome, url:http\://omim.org/entry/272120, url:http\://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html] +synonym: "Cot death" EXACT [SNOMEDCT_2005_07_31:158718001] +synonym: "Cot death" EXACT [SNOMEDCT_2005_07_31:207671002] +synonym: "Cot death (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207535006] +synonym: "Crib death (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207536007] +synonym: "SIDS" EXACT [CSP2005:0635-4620] +synonym: "Sudden death of nonspecific cause in infancy" EXACT [MTHICD9_2006:798.0] +synonym: "Sudden infant death syndrome (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207534005] +synonym: "Sudden infant death syndrome (finding)" EXACT [SNOMEDCT_2005_07_31:51178009] +synonym: "Sudden infant death syndrome NOS (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:207538008] +xref: ICD9CM:798.0 +xref: MSH:D013398 +xref: NCI:C85173 +xref: OMIM:272120 +xref: SNOMEDCT_US_2015_03_01:158718001 +xref: SNOMEDCT_US_2015_03_01:207534005 +xref: SNOMEDCT_US_2015_03_01:207535006 +xref: SNOMEDCT_US_2015_03_01:207536007 +xref: SNOMEDCT_US_2015_03_01:207538008 +xref: SNOMEDCT_US_2015_03_01:207671002 +xref: SNOMEDCT_US_2015_03_01:51178009 +xref: UMLS_CUI:C0038644 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:9008 +name: psoriatic arthritis +def: "A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis." [url:http\://en.wikipedia.org/wiki/Psoriatic_arthropathy, url:http\://psoriasis.org/netcommunity/psoriatic_arthritis, url:http\://www.mayoclinic.com/health/psoriatic-arthritis/DS00476, url:http\://www.medicinenet.com/psoriatic_arthritis/article.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000413.htm] +synonym: "arthritis psoriatica" EXACT [] +synonym: "arthropathic psoriasis" EXACT [] +synonym: "psoriatic arthropathy" RELATED [] +xref: EFO:0003778 +xref: ICD10CM:L40.5 +xref: ICD10CM:L40.50 +xref: ICD9CM:696.0 +xref: MSH:D015535 +xref: NCI:C61277 +xref: SNOMEDCT_US_2015_03_01:156370009 +xref: SNOMEDCT_US_2015_03_01:200959009 +xref: SNOMEDCT_US_2015_03_01:33339001 +xref: UMLS_CUI:C0003872 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:901 +name: liver lymphoma +synonym: "Lymphoma of Liver" EXACT [NCI2004_11_17:C4949] +xref: NCI:C4949 +xref: UMLS_CUI:C1112746 +is_a: DOID:3571 ! liver cancer + +[Term] +id: DOID:9010 +name: Burkitt's tumor or lymphoma involving lymph nodes of multiple sites +synonym: "Burkitt's lymphoma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188517003] +is_obsolete: true + +[Term] +id: DOID:9011 +name: larynx carcinoma in situ +synonym: "carcinoma in situ of larynx (disorder)" EXACT [SNOMEDCT_2005_07_31:92634009] +synonym: "carcinoma in situ of larynx NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189261004] +synonym: "stage 0 carcinoma of the Larynx" EXACT [NCI2004_11_17:C9100] +xref: ICD10CM:D02.0 +xref: ICD9CM:231.0 +xref: NCI:C9100 +xref: SNOMEDCT_US_2015_03_01:189261004 +xref: SNOMEDCT_US_2015_03_01:92634009 +xref: UMLS_CUI:C0154069 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9017 +name: Sezary's disease involving lymph nodes of axilla and upper limb +synonym: "Sezary's disease of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188633006] +synonym: "Szary's disease of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:95259004] +is_obsolete: true + +[Term] +id: DOID:9019 +name: Mycosis fungoides involving spleen +synonym: "Mycosis fungoides of spleen" EXACT [SNOMEDCT_2005_07_31:188626006] +synonym: "Mycosis fungoides of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:94714002] +is_obsolete: true + +[Term] +id: DOID:902 +name: malignant non-epithelial hepatic and intrahepatic bile duct neoplasm +is_obsolete: true + +[Term] +id: DOID:9020 +name: reticulosarcoma involving spleen +synonym: "Reticulosarcoma Involving Spleen" EXACT [NCI2004_11_17:C26959] +synonym: "Reticulosarcoma of spleen" EXACT [SNOMEDCT_2005_07_31:188495007] +synonym: "Reticulosarcoma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:95231000] +is_obsolete: true + +[Term] +id: DOID:9021 +name: esophageal leukoplakia +synonym: "esophageal Leukoplakia" EXACT [NCI2004_11_17:C3953] +synonym: "Leukoplakia of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:89057003] +xref: ICD9CM:530.83 +xref: NCI:C3953 +xref: SNOMEDCT_US_2015_03_01:89057003 +xref: UMLS_CUI:C0267095 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:9024 +name: intestine carcinoma in situ +synonym: "carcinoma in situ of other and unspecified parts of intestine (disorder)" EXACT [SNOMEDCT_2005_07_31:190172008] +xref: ICD10CM:D01.4 +xref: ICD9CM:230.7 +xref: SNOMEDCT_US_2015_03_01:190172008 +xref: UMLS_CUI:C0154065 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9025 +name: Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes +synonym: "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:93511003] +synonym: "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188567005] +synonym: "Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:903 +name: gastrointestinal lymphoma +xref: NCI:C38162 +xref: SNOMEDCT_US_2015_03_01:449072004 +xref: UMLS_CUI:C0740372 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:9033 +name: Hodgkin's sarcoma involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188547001] +synonym: "Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93550004] +is_obsolete: true + +[Term] +id: DOID:9036 +name: parotid gland cancer +def: "A salivary gland cancer that is located_in the parotid gland." [url:http\://en.wikipedia.org/wiki/Parotid_gland] +synonym: "cancer of parotid gland" EXACT [SNOMEDCT_2005_07_31:93949007] +synonym: "malignant neoplasm of the Parotid" EXACT [NCI2004_11_17:C3525] +synonym: "malignant tumor of parotid gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363379000] +xref: ICD10CM:C07 +xref: ICD9CM:142.0 +xref: MSH:D010307 +xref: NCI:C3525 +xref: SNOMEDCT_US_2015_03_01:363379000 +xref: SNOMEDCT_US_2015_03_01:93949007 +xref: UMLS_CUI:C0747273 +is_a: DOID:8850 ! salivary gland cancer + +[Term] +id: DOID:9037 +name: Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb +synonym: "Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188514005] +is_obsolete: true + +[Term] +id: DOID:9039 +name: Hodgkin's paragranuloma involving lymph nodes of head, face, and neck +synonym: "Hodgkin's paragranuloma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.01] +synonym: "Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93542008] +synonym: "Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188523008] +is_obsolete: true + +[Term] +id: DOID:9040 +name: reticulosarcoma involving lymph nodes of head, face, and neck +synonym: "Reticulosarcoma involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:200.01] +synonym: "Reticulosarcoma of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188489006] +synonym: "Reticulosarcoma of lymph nodes of head, face, and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:95228001] +is_obsolete: true + +[Term] +id: DOID:9041 +name: Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188578002] +synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93505001] +synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9042 +name: polyp of corpus uteri +synonym: "endometrial/uterine polyp NOS" EXACT [SNOMEDCT_2005_07_31:266659005] +synonym: "polyp of corpus uteri (disorder)" EXACT [SNOMEDCT_2005_07_31:11314008] +synonym: "polyp of Endometrium" EXACT [NCI2004_11_17:C6433] +synonym: "polyp of the Uterus" EXACT [NCI2004_11_17:C3662] +synonym: "polyp, uterus NOS" EXACT [MTHICD9_2006:621.0] +synonym: "polyp: [endometrial/uterine NOS] or [endometrial]" EXACT [SNOMEDCT_2005_07_31:156005006] +xref: ICD10CM:N84.0 +xref: ICD9CM:621.0 +xref: NCI:C3662 +xref: SNOMEDCT_US_2015_03_01:11314008 +xref: SNOMEDCT_US_2015_03_01:266659005 +xref: UMLS_CUI:C0156369 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:9043 +name: uterine cervix leukoplakia +synonym: "Leukoplakia of cervix (disorder)" EXACT [SNOMEDCT_2005_07_31:50923006] +synonym: "Leukoplakia of cervix (uteri)" EXACT [] +synonym: "Leukoplakia of cervix uteri" EXACT [MTHICD9_2006:622.2] +synonym: "Leukoplakia of the uterine Cervix" EXACT [NCI2004_11_17:C3976] +xref: ICD10CM:N88.0 +xref: ICD9CM:622.2 +xref: NCI:C3976 +xref: SNOMEDCT_US_2015_03_01:50923006 +xref: UMLS_CUI:C0269194 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:9046 +name: nodular lymphoma involving lymph nodes of multiple sites +synonym: "nodular lymphoma of lymph nodes of multiple sites" EXACT [SNOMEDCT_2005_07_31:188616004] +synonym: "nodular lymphoma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:95192000] +is_obsolete: true + +[Term] +id: DOID:905 +name: Zellweger syndrome +def: "A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes." [url:http\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912] +comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping confirmed by DO. [SN]. +synonym: "cerebrohepatorenal syndrome " EXACT [] +synonym: "congenital iron overload" EXACT [CSP2005:1849-1804] +synonym: "peroxisome biogenesis disorder" EXACT [] +xref: ICD10CM:E71.510 +xref: MSH:D015211 +xref: NCI:C85239 +xref: OMIM:214100 +xref: SNOMEDCT_US_2015_03_01:88469006 +xref: UMLS_CUI:C0043459 +is_a: DOID:906 ! peroxisomal disease + +[Term] +id: DOID:9051 +name: Herpes simplex virus meningitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://en.wikipedia.org/wiki/Mollaret%27s_meningitis, url:http\://www.springerlink.com/content/u62658410432568k/fulltext.pdf] +synonym: "Herpes simplex meningitis (disorder)" EXACT [SNOMEDCT_2005_07_31:23291008] +synonym: "Mollaret's meningitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9052 +name: Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188589009] +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93487009] +synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9053 +name: bladder carcinoma in situ +synonym: "bladder Ca in situ" EXACT [SNOMEDCT_2005_07_31:269650008] +synonym: "carcinoma in situ of bladder (disorder)" EXACT [SNOMEDCT_2005_07_31:92546004] +synonym: "Flat CIS of the urinary bladder" EXACT [NCI2004_11_17:C3644] +xref: ICD10CM:D09.0 +xref: ICD9CM:233.7 +xref: NCI:C3644 +xref: SNOMEDCT_US_2015_03_01:269650008 +xref: SNOMEDCT_US_2015_03_01:92546004 +xref: UMLS_CUI:C0154091 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9054 +name: lymphosarcoma involving intrathoracic lymph nodes +is_obsolete: true + +[Term] +id: DOID:9059 +name: Herpes simplex virus gingivostomatitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001052.htm] +synonym: "herpetic gingivostomatitis" EXACT [] +synonym: "primary herpetic gingivostomatitis" EXACT [SNOMEDCT_2005_07_31:57920007] +is_obsolete: true + +[Term] +id: DOID:906 +name: peroxisomal disease +def: "An inherited metabolic disorder that involves peroxisome malfunction." [url:http\://en.wikipedia.org/wiki/Peroxisomal_disorder] +synonym: "peroxisomal disorder" EXACT [ICD9CM_2006:277.86] +xref: ICD10CM:E71.5 +xref: ICD10CM:E71.50 +xref: ICD9CM:277.86 +xref: MSH:D018901 +xref: NCI:C85005 +xref: SNOMEDCT_US_2015_03_01:238059005 +xref: UMLS_CUI:C0282528 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:9060 +name: pityriasis versicolor +def: "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/] +synonym: "Infection by Pityrosporum furfur" EXACT [MTHICD9_2006:111.0] +synonym: "Pityriasis versicolor (disorder)" EXACT [SNOMEDCT_2005_07_31:56454009] +xref: ICD10CM:B36.0 +xref: ICD9CM:111.0 +xref: MSH:D014010 +xref: NCI:C112833 +xref: NCI:C82981 +xref: SNOMEDCT_US_2015_03_01:154395007 +xref: SNOMEDCT_US_2015_03_01:56454009 +xref: UMLS_CUI:C0040262 +is_a: DOID:0050133 ! superficial mycosis + +[Term] +id: DOID:9061 +name: alcohol induced sleep disorder +is_obsolete: true + +[Term] +id: DOID:9063 +name: Ritter's disease +def: "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." [url:http\://en.wikipedia.org/wiki/Ritter%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin] +subset: gram-positive_bacterial_infectious_disease +synonym: "Dermatitis exfoliativa neonatorum" EXACT [MTHICD9_2006:695.81] +synonym: "Pemphigus neonatorum" EXACT [] +synonym: "Ritter disease" EXACT [] +synonym: "Scalded skin syndrome" EXACT [MTHICD9_2006:695.1] +synonym: "Staphylococcal scalded skin syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:200946001] +synonym: "Toxic epidermal necrolysis, subcorneal type (disorder)" EXACT [SNOMEDCT_2005_07_31:367537006] +xref: ICD10CM:L00 +xref: ICD9CM:695.81 +xref: MSH:D013206 +xref: NCI:C85077 +xref: SNOMEDCT_US_2015_03_01:200946001 +xref: SNOMEDCT_US_2015_03_01:367537006 +xref: SNOMEDCT_US_2015_03_01:87758007 +xref: UMLS_CUI:C0038165 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:9064 +name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites +synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9065 +name: leishmaniasis +alt_id: DOID:9136 +def: "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae)." [url:http\://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm] +subset: zoonotic_infectious_disease +synonym: "Post Kala-Azar Dermal Leishmaniasis" RELATED [NCI2004_11_17:C34936] +synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [] +synonym: "Post-kala-azar dermal leishmaniasis (disorder)" RELATED [SNOMEDCT_2005_07_31:67896006] +xref: ICD10CM:B55 +xref: ICD10CM:B55.9 +xref: ICD9CM:085 +xref: ICD9CM:085.9 +xref: MSH:D007896 +xref: NCI:C34767 +xref: SNOMEDCT_US_2015_03_01:154377009 +xref: SNOMEDCT_US_2015_03_01:186811002 +xref: SNOMEDCT_US_2015_03_01:187511000 +xref: SNOMEDCT_US_2015_03_01:266206004 +xref: SNOMEDCT_US_2015_03_01:80612004 +xref: UMLS_CUI:C0023281 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:9067 +name: Hodgkin's paragranuloma involving intrathoracic lymph nodes +synonym: "Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188524002] +synonym: "Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93540000] +is_obsolete: true + +[Term] +id: DOID:907 +name: liver fibroma +synonym: "Fibroma of the Liver" EXACT [NCI2004_11_17:C5752] +xref: NCI:C5752 +xref: UMLS_CUI:C1333965 +is_a: DOID:916 ! liver neoplasm + +[Term] +id: DOID:9070 +name: pseudopolyposis of colon +synonym: "Colonic Inflammatory polyp" EXACT [NCI2004_11_17:C5517] +synonym: "Pseudopolyposis of colon (disorder)" EXACT [SNOMEDCT_2005_07_31:13025001] +is_obsolete: true + +[Term] +id: DOID:9071 +name: malignant histiocytosis involving spleen +synonym: "malignant histiocytosis of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:93189002] +is_obsolete: true + +[Term] +id: DOID:9072 +name: lethal midline granuloma +synonym: "Lethal midline granuloma (disorder)" EXACT [SNOMEDCT_2005_07_31:58961005] +synonym: "malignant granuloma of face" EXACT [MTHICD9_2006:446.3] +synonym: "Midfacial Necrotising Lesion" EXACT [NCI2004_11_17:C8196] +xref: ICD10CM:M31.2 +xref: ICD9CM:446.3 +xref: MSH:D006103 +xref: NCI:C8196 +xref: SNOMEDCT_US_2015_03_01:58961005 +xref: UMLS_CUI:C0018197 +is_a: DOID:2825 ! nose disease + +[Term] +id: DOID:9074 +name: systemic lupus erythematosus +def: "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Systemic_lupus_erythematosus] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "disseminated lupus erythematosus" EXACT [CSP2005:0729-7721] +synonym: "Lupus Erythematosus, systemic" EXACT [MTH:U002054] +synonym: "SLE - Lupus Erythematosus, systemic" EXACT [NCI2004_11_17:C3201] +xref: EFO:0002690 +xref: ICD10CM:M32 +xref: ICD10CM:M32.9 +xref: ICD9CM:710.0 +xref: KEGG:05322 +xref: MSH:D008180 +xref: NCI:C3201 +xref: OMIM:152700 +xref: OMIM:300809 +xref: OMIM:601744 +xref: OMIM:605218 +xref: OMIM:605480 +xref: OMIM:608437 +xref: OMIM:609903 +xref: OMIM:609939 +xref: OMIM:610065 +xref: OMIM:610066 +xref: OMIM:610927 +xref: OMIM:612251 +xref: OMIM:612253 +xref: OMIM:612254 +xref: OMIM:612378 +xref: OMIM:613145 +xref: OMIM:614420 +xref: ORDO:536 +xref: SNOMEDCT_US_2015_03_01:156450004 +xref: SNOMEDCT_US_2015_03_01:201435004 +xref: SNOMEDCT_US_2015_03_01:201439005 +xref: SNOMEDCT_US_2015_03_01:55464009 +xref: UMLS_CUI:C0024141 +is_a: DOID:65 ! connective tissue disease +is_a: DOID:8857 ! lupus erythematosus + +[Term] +id: DOID:9076 +name: discoid lupus erythematosus of eyelid +synonym: "discoid lupus erythematosus of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:79291003] +xref: ICD10CM:H01.12 +xref: ICD9CM:373.34 +xref: SNOMEDCT_US_2015_03_01:79291003 +xref: UMLS_CUI:C0155180 +is_a: DOID:1894 ! noninfectious dermatoses of eyelid + +[Term] +id: DOID:9078 +name: Hodgkin's paragranuloma involving intrapelvic lymph nodes +synonym: "Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188529007] +synonym: "Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93539002] +is_obsolete: true + +[Term] +id: DOID:9079 +name: Hodgkin's paragranuloma involving lymph nodes of multiple sites +synonym: "Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:93544009] +synonym: "Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188531003] +is_obsolete: true + +[Term] +id: DOID:9080 +name: macroglobulinemia +synonym: "primary macroglobulinemia" EXACT [MTHICD9_2006:273.3] +xref: ICD10CM:C88.0 +xref: ICD9CM:273.3 +xref: MSH:D008258 +xref: NCI:C80307 +xref: SNOMEDCT_US_2015_03_01:109981009 +xref: SNOMEDCT_US_2015_03_01:154750002 +xref: SNOMEDCT_US_2015_03_01:190014001 +xref: SNOMEDCT_US_2015_03_01:190817009 +xref: SNOMEDCT_US_2015_03_01:190818004 +xref: SNOMEDCT_US_2015_03_01:190821002 +xref: SNOMEDCT_US_2015_03_01:267503004 +xref: SNOMEDCT_US_2015_03_01:35562000 +xref: UMLS_CUI:C0024419 +xref: UMLS_CUI:C2936755 +is_a: DOID:2345 ! plasma protein metabolism disease + +[Term] +id: DOID:9082 +name: mycosis fungoides involving intrathoracic lymph nodes +synonym: "Mycosis fungoides of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188620000] +synonym: "Mycosis fungoides of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94709001] +is_obsolete: true + +[Term] +id: DOID:9084 +name: Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes +synonym: "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:93502003] +synonym: "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188577007] +synonym: "Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9087 +name: anal carcinoma in situ +synonym: "anal carcinoma stage 0" EXACT [NCI2004_11_17:C7794] +synonym: "anal intraepithelial neoplasia grade III" EXACT [SNOMEDCT_2005_07_31:401311008] +synonym: "anal intraepithelial neoplasia, grade III" EXACT [SNOMEDCT_2005_07_31:20365006] +synonym: "carcinoma in situ of anal canal" EXACT [ICD9CM_2006:230.5] +synonym: "carcinoma in situ of anal canal (disorder)" EXACT [SNOMEDCT_2005_07_31:92531006] +synonym: "carcinoma in situ of anus (disorder)" EXACT [SNOMEDCT_2005_07_31:92537005] +synonym: "carcinoma in situ of anus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189233005] +xref: ICD9CM:230.6 +xref: SNOMEDCT_US_2015_03_01:189233005 +xref: SNOMEDCT_US_2015_03_01:20365006 +xref: SNOMEDCT_US_2015_03_01:401311008 +xref: SNOMEDCT_US_2015_03_01:92537005 +xref: UMLS_CUI:C0154064 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9088 +name: parapsoriasis +synonym: "Parapsoriasis (disorder)" EXACT [SNOMEDCT_2005_07_31:88233000] +synonym: "Parapsoriasis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200991005] +synonym: "Parapsoriasis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:200980003] +xref: ICD10CM:L41 +xref: ICD10CM:L41.9 +xref: ICD9CM:696.2 +xref: MSH:D010267 +xref: NCI:C3312 +xref: SNOMEDCT_US_2015_03_01:156371008 +xref: SNOMEDCT_US_2015_03_01:200979001 +xref: SNOMEDCT_US_2015_03_01:200980003 +xref: SNOMEDCT_US_2015_03_01:200991005 +xref: SNOMEDCT_US_2015_03_01:238592008 +xref: SNOMEDCT_US_2015_03_01:267851002 +xref: SNOMEDCT_US_2015_03_01:88233000 +xref: UMLS_CUI:C0030491 +is_a: DOID:8893 ! psoriasis + +[Term] +id: DOID:9091 +name: REM sleep behavior disorder +def: "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." [url:http\://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder] +synonym: "Rapid eye movement sleep behavior disorder " EXACT [] +xref: ICD10CM:G47.52 +xref: ICD9CM:327.42 +xref: MSH:D020187 +xref: SNOMEDCT_US_2015_03_01:415238003 +xref: UMLS_CUI:C0751772 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:9092 +name: Hodgkin's sarcoma involving intrathoracic lymph nodes +synonym: "Hodgkin's sarcoma of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188545009] +synonym: "Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93549004] +is_obsolete: true + +[Term] +id: DOID:9093 +name: Hodgkin's paragranuloma involving intra-abdominal lymph nodes +synonym: "Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188526000] +synonym: "Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:93538005] +is_obsolete: true + +[Term] +id: DOID:9095 +name: esophagus carcinoma in situ +synonym: "carcinoma in situ of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:92585006] +synonym: "carcinoma in situ of esophagus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189217007] +synonym: "Severe esophageal dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:308860001] +synonym: "stage 0 carcinoma of the esophagus" EXACT [NCI2004_11_17:C3637] +xref: ICD10CM:D00.1 +xref: ICD9CM:230.1 +xref: NCI:C89771 +xref: SNOMEDCT_US_2015_03_01:189217007 +xref: SNOMEDCT_US_2015_03_01:308860001 +xref: SNOMEDCT_US_2015_03_01:92585006 +xref: UMLS_CUI:C0154059 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9097 +name: erythematosquamous dermatosis +alt_id: DOID:9215 +synonym: "Erythematosquamous Dermatosis" EXACT [NCI2004_11_17:C34591] +synonym: "Erythematosquamous dermatosis (disorder)" EXACT [SNOMEDCT_2005_07_31:54792008] +synonym: "Erythematosquamous dermatosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:200768000] +synonym: "Other erythematosquamous dermatosis" EXACT [] +xref: ICD9CM:690 +xref: NCI:C34591 +xref: SNOMEDCT_US_2015_03_01:200762004 +xref: SNOMEDCT_US_2015_03_01:200768000 +xref: SNOMEDCT_US_2015_03_01:54792008 +xref: UMLS_CUI:C0014747 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:9098 +name: sebaceous gland disease +def: "A skin disease that is located_in the sebaceous gland." [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance, url:http\://www.ncbi.nlm.nih.gov/pubmed/18837699] +xref: ICD10CM:L70.8 +xref: ICD9CM:706.1 +xref: SNOMEDCT_US_2015_03_01:201213005 +xref: SNOMEDCT_US_2015_03_01:201230007 +xref: SNOMEDCT_US_2015_03_01:201401002 +xref: UMLS_CUI:C0029485 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:910 +name: occipital lobe neoplasm +alt_id: DOID:909 +synonym: "malignant neoplasm of occipital lobe" EXACT [] +synonym: "malignant neoplasm of occipital lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:363470000] +synonym: "neoplasm of occipital lobe (disorder)" EXACT [SNOMEDCT_2005_07_31:126957005] +synonym: "tumor of Occipital Lobe" EXACT [NCI2004_11_17:C5574] +xref: ICD10CM:C71.4 +xref: ICD9CM:191.4 +xref: NCI:C5574 +xref: SNOMEDCT_US_2015_03_01:126957005 +xref: SNOMEDCT_US_2015_03_01:363470000 +xref: SNOMEDCT_US_2015_03_01:93928006 +xref: UMLS_CUI:C0153638 +xref: UMLS_CUI:C1263889 +is_a: DOID:368 ! cerebrum cancer + +[Term] +id: DOID:9103 +name: carcinoma in situ of male genital organs +synonym: "carcinoma in situ of other and unspecified male genital organs (disorder)" EXACT [SNOMEDCT_2005_07_31:189348002] +is_obsolete: true + +[Term] +id: DOID:9105 +name: mycosis fungoides involving intrapelvic lymph nodes +synonym: "Mycosis fungoides of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:188625005] +synonym: "Mycosis fungoides of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94708009] +is_obsolete: true + +[Term] +id: DOID:9108 +name: uterus carcinoma in situ +synonym: "carcinoma in situ of other and unspecified parts of uterus (disorder)" EXACT [SNOMEDCT_2005_07_31:269492005] +xref: ICD9CM:233.2 +xref: SNOMEDCT_US_2015_03_01:189342001 +xref: SNOMEDCT_US_2015_03_01:269492005 +xref: UMLS_CUI:C0154086 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9109 +name: mycosis fungoides involving intra-abdominal lymph nodes +synonym: "Mycosis fungoides of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:188622008] +synonym: "Mycosis fungoides of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:94707004] +is_obsolete: true + +[Term] +id: DOID:9111 +name: cutaneous leishmaniasis +alt_id: DOID:13553 +alt_id: DOID:9110 +alt_id: DOID:9122 +alt_id: DOID:9167 +def: "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] +subset: zoonotic_infectious_disease +synonym: "Asian Desert Cutaneous Leishmaniasis" EXACT [NCI2004_11_17:C34770] +synonym: "diffuse cutaneous leishmaniasis" EXACT [] +synonym: "Leproid leishmaniasis" EXACT [SNOMEDCT_2005_07_31:38573008] +xref: ICD10CM:B55.1 +xref: MSH:D016773 +xref: NCI:C34768 +xref: SNOMEDCT_US_2015_03_01:240637006 +xref: UMLS_CUI:C0023283 +is_a: DOID:9065 ! leishmaniasis + +[Term] +id: DOID:9113 +name: granuloma inguinale +def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." [url:http\://emedicine.medscape.com/article/1052617-overview, url:http\://en.wikipedia.org/wiki/Granuloma_inguinale] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "(Granuloma inguinale) or (donovanosis) or (pudendal ulcer)" EXACT [SNOMEDCT_2005_07_31:186947000] +synonym: "donovanosis" EXACT [] +synonym: "Granuloma Inguinale" EXACT [NCI2004_11_17:C3065] +synonym: "Granuloma Inguinale" EXACT [CSP2005:0368-2705] +synonym: "Granuloma inguinale (disorder)" EXACT [SNOMEDCT_2005_07_31:28867007] +synonym: "Pudendal ulcer" EXACT [MTHICD9_2006:099.2] +xref: ICD10CM:A58 +xref: ICD9CM:099.2 +xref: MSH:D006100 +xref: NCI:C3065 +xref: SNOMEDCT_US_2015_03_01:186947000 +xref: SNOMEDCT_US_2015_03_01:28867007 +xref: UMLS_CUI:C0018190 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:9114 +name: Varicella-zoster virus pneumonia +def: "A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis." [url:http\://erj.ersjournals.com/content/21/5/886.full] +synonym: "Hemorrhagic varicella pneumonitis" EXACT [MTH:NOCODE] +synonym: "Varicella pneumonitis" EXACT [MTHICD9_2006:052.1] +is_obsolete: true + +[Term] +id: DOID:9115 +name: Rubella virus arthritis +def: "A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains." [url:http\://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false] +synonym: "rubella arthritis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9117 +name: Hodgkin's lymphoma, lymphocytic depletion, involving spleen +synonym: "Hodgkin's disease, lymphocytic depletion of spleen" EXACT [SNOMEDCT_2005_07_31:93491004] +synonym: "Hodgkin's disease, lymphocytic depletion of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188592008] +synonym: "Hodgkin's disease, lymphocytic depletion, involving spleen" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9119 +name: acute myeloid leukemia +alt_id: DOID:9118 +alt_id: DOID:9171 +def: "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." [url:http\://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia, url:http\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=44363] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "acute myeloblastic leukemia" EXACT [] +synonym: "acute myelogenous leukemia" EXACT [] +synonym: "AML - acute Myeloid Leukemia" EXACT [NCI2004_11_17:C3171] +synonym: "Leukemia, Myelocytic, acute" EXACT [MTH:NOCODE] +xref: ICD10CM:C92.0 +xref: ICD10CM:C92.00 +xref: ICD9CM:205.0 +xref: KEGG:05221 +xref: MSH:D015470 +xref: NCI:C27753 +xref: NCI:C3171 +xref: OMIM:601626 +xref: OMIM:602439 +xref: SNOMEDCT_US_2015_03_01:154591002 +xref: SNOMEDCT_US_2015_03_01:17788007 +xref: SNOMEDCT_US_2015_03_01:277600006 +xref: SNOMEDCT_US_2015_03_01:413443009 +xref: SNOMEDCT_US_2015_03_01:91861009 +xref: UMLS_CUI:C0023467 +is_a: DOID:8692 ! myeloid leukemia + +[Term] +id: DOID:9120 +name: amyloidosis +def: "An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues." [url:http\://en.wikipedia.org/wiki/Amyloidosis] +synonym: "amyloid disease" EXACT [CSP2005:1849-1519] +xref: ICD10CM:E85 +xref: ICD10CM:E85.9 +xref: ICD9CM:277.3 +xref: ICD9CM:277.30 +xref: MSH:D000686 +xref: NCI:C2868 +xref: SNOMEDCT_US_2015_03_01:154769007 +xref: SNOMEDCT_US_2015_03_01:17602002 +xref: SNOMEDCT_US_2015_03_01:190931005 +xref: UMLS_CUI:C0002726 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:9121 +name: Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites +synonym: "Hodgkin's disease, mixed cellularity, extranodal and solid organ sites" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9123 +name: eczema herpeticum +alt_id: DOID:4408 +alt_id: DOID:9081 +def: "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes." [url:http\://www.eczema.com/eczema-herpeticum/] +synonym: "Eczema herpeticum (disorder)" EXACT [SNOMEDCT_2005_07_31:186535001] +synonym: "Eczema herpeticum (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:52464003] +synonym: "herpes simplex dermatitis" EXACT [] +synonym: "Herpes simplex dermatitis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:38875006] +synonym: "Herpes simplex eyelid dermatitis (disorder)" EXACT [SNOMEDCT_2005_07_31:186544000] +synonym: "Herpes simplex virus dermatitis" EXACT [] +synonym: "herpes simplex virus eyelid dermatitis" EXACT [] +xref: ICD10CM:B00.0 +xref: ICD9CM:054.0 +xref: ICD9CM:054.41 +xref: MSH:D007617 +xref: NCI:C35620 +xref: SNOMEDCT_US_2015_03_01:186535001 +xref: SNOMEDCT_US_2015_03_01:186544000 +xref: SNOMEDCT_US_2015_03_01:38875006 +xref: SNOMEDCT_US_2015_03_01:52464003 +xref: UMLS_CUI:C0153037 +xref: UMLS_CUI:C0854331 +xref: UMLS_CUI:C0936250 +is_a: DOID:8566 ! herpes simplex + +[Term] +id: DOID:9124 +name: Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes +synonym: "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes" EXACT [SNOMEDCT_2005_07_31:93484002] +synonym: "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188587006] +synonym: "Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9125 +name: lower gum cancer +synonym: "malignant tumor of lower gingiva (disorder)" EXACT [SNOMEDCT_2005_07_31:363384006] +synonym: "malignant tumour of lower gum" EXACT [SNOMEDCT_2005_07_31:93873003] +xref: ICD10CM:C03.1 +xref: ICD9CM:143.1 +xref: SNOMEDCT_US_2015_03_01:363384006 +xref: SNOMEDCT_US_2015_03_01:93873003 +xref: UMLS_CUI:C0432581 +is_a: DOID:8602 ! gum cancer + +[Term] +id: DOID:913 +name: atrophic muscular disease +xref: MSH:D020966 +xref: NCI:C84574 +xref: UMLS_CUI:C0752352 +is_a: DOID:440 ! neuromuscular disease + +[Term] +id: DOID:9130 +name: Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes +synonym: "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93512005] +synonym: "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188570009] +synonym: "Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9132 +name: liver carcinoma in situ +synonym: "carcinoma in situ of biliary system (& [and liver])" EXACT [SNOMEDCT_2005_07_31:189241005] +synonym: "carcinoma in situ of liver and biliary system (disorder)" EXACT [SNOMEDCT_2005_07_31:271525004] +synonym: "carcinoma in situ of liver or biliary system NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189247009] +synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [MTH:U001402] +xref: ICD10CM:D01.5 +xref: ICD9CM:230.8 +xref: SNOMEDCT_US_2015_03_01:189241005 +xref: SNOMEDCT_US_2015_03_01:189247009 +xref: SNOMEDCT_US_2015_03_01:271525004 +xref: UMLS_CUI:C0496854 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9138 +name: stomach carcinoma in situ +synonym: "carcinoma in situ of stomach (disorder)" EXACT [SNOMEDCT_2005_07_31:92756002] +synonym: "carcinoma in situ of stomach NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:189223002] +synonym: "gastric carcinoma in situ" EXACT [NCI2004_11_17:C7788] +xref: ICD10CM:D00.2 +xref: ICD9CM:230.2 +xref: NCI:C7788 +xref: SNOMEDCT_US_2015_03_01:189223002 +xref: SNOMEDCT_US_2015_03_01:92756002 +xref: UMLS_CUI:C0154060 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:914 +name: peliosis hepatis +synonym: "hepatic peliosis (disorder)" EXACT [SNOMEDCT_2005_07_31:240625009] +xref: ICD10CM:K76.4 +xref: MSH:D010382 +xref: SNOMEDCT_US_2015_03_01:197366003 +xref: SNOMEDCT_US_2015_03_01:240625009 +xref: SNOMEDCT_US_2015_03_01:58008004 +xref: UMLS_CUI:C0030781 +is_a: DOID:272 ! hepatic vascular disease + +[Term] +id: DOID:9140 +name: xeroderma of eyelid +synonym: "Xeroderma of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:55846006] +xref: ICD10CM:H01.14 +xref: ICD9CM:373.33 +xref: SNOMEDCT_US_2015_03_01:55846006 +xref: UMLS_CUI:C0155179 +is_a: DOID:1894 ! noninfectious dermatoses of eyelid + +[Term] +id: DOID:9141 +name: Herpes simplex virus meningoencephalitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf] +synonym: "Herpetic meningoencephalitis (disorder)" EXACT [SNOMEDCT_2005_07_31:9678009] +is_obsolete: true + +[Term] +id: DOID:9142 +name: Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites" EXACT [SNOMEDCT_2005_07_31:93490003] +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder)" EXACT [SNOMEDCT_2005_07_31:188593003] +synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites" RELATED [] +synonym: "stage III Hodgkin's Lymphoma Lymphocyte Depletion type" EXACT [NCI2004_11_17:C3583] +is_obsolete: true + +[Term] +id: DOID:9143 +name: Burkitt's tumor or lymphoma involving spleen +synonym: "Burkitt's lymphoma of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:188516007] +synonym: "Burkitt's tumor of spleen (disorder)" EXACT [SNOMEDCT_2005_07_31:92515003] +synonym: "Splenic Burkitt's Lymphoma" EXACT [NCI2004_11_17:C7309] +is_obsolete: true + +[Term] +id: DOID:9146 +name: visceral leishmaniasis +def: "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver." [url:http\://en.wikipedia.org/wiki/Visceral_leishmaniasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] +comment: Xref MGI. +subset: DO_MGI_slim +subset: zoonotic_infectious_disease +synonym: "Infection by visceral leishmaniasis" EXACT [MTHICD9_2006:085.0] +synonym: "Kala-Azar" EXACT [NCI2004_11_17:C34771] +xref: ICD10CM:B55.0 +xref: ICD9CM:085.0 +xref: MSH:D007898 +xref: NCI:C34771 +xref: OMIM:608207 +xref: OMIM:611381 +xref: OMIM:611382 +xref: ORDO:507 +xref: SNOMEDCT_US_2015_03_01:186803007 +xref: SNOMEDCT_US_2015_03_01:48115004 +xref: UMLS_CUI:C0023290 +is_a: DOID:9065 ! leishmaniasis + +[Term] +id: DOID:9149 +name: hard palate cancer +synonym: "Hard Palate" EXACT [NCI2004_11_17:C12230] +synonym: "malignant neoplasm of hard palate" EXACT [MTH:U001235] +synonym: "malignant tumor of hard palate (disorder)" EXACT [SNOMEDCT_2005_07_31:363387004] +synonym: "malignant tumor of the Hard Palate" EXACT [NCI2004_11_17:C3528] +synonym: "malignant tumour of hard palate" EXACT [SNOMEDCT_2005_07_31:93822006] +xref: ICD10CM:C05.0 +xref: ICD9CM:145.2 +xref: NCI:C3528 +xref: SNOMEDCT_US_2015_03_01:363387004 +xref: SNOMEDCT_US_2015_03_01:93822006 +xref: UMLS_CUI:C0153375 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:9150 +name: Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes +synonym: "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93503008] +synonym: "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188580008] +synonym: "Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9153 +name: variola minor +def: "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions." [url:http\://emedicine.medscape.com/article/830328-overview] +synonym: "Alastrim (disorder)" EXACT [SNOMEDCT_2005_07_31:72294005] +synonym: "cottonpox" EXACT [] +synonym: "milkpox" EXACT [] +synonym: "Variola minor" EXACT [MTHICD9_2006:050.1] +synonym: "whitepox" EXACT [] +xref: ICD9CM:050.1 +xref: MSH:D012899 +xref: NCI:C34365 +xref: SNOMEDCT_US_2015_03_01:72294005 +xref: UMLS_CUI:C0001906 +is_a: DOID:8736 ! smallpox + +[Term] +id: DOID:9155 +name: mucocutaneous leishmaniasis +def: "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." [url:http\://www.bmj.com/cgi/content/full/329/7470/842] +subset: zoonotic_infectious_disease +synonym: "American Cutaneous Leishmaniasis" EXACT [NCI2004_11_17:C34769] +synonym: "American cutaneous leishmaniasis" EXACT [SNOMEDCT_2005_07_31:186809006] +synonym: "American mucocutaneous leishmaniasis" EXACT [SNOMEDCT_2005_07_31:39625001] +synonym: "American mucocutaneous leishmaniasis" EXACT [SNOMEDCT_2005_07_31:186810001] +synonym: "American mucocutaneous leishmaniasis (disorder)" EXACT [SNOMEDCT_2005_07_31:403135004] +synonym: "Cutaneous leishmaniasis, American" EXACT [ICD9CM_2006:085.4] +synonym: "Mucocutaneous leishmaniasis, (American)" EXACT [ICD9CM_2006:085.5] +synonym: "Mucocutaneous leishmaniasis, American" EXACT [MTHICD9_2006:085.5] +synonym: "New World cutaneous leishmaniasis" EXACT [SNOMEDCT_2005_07_31:77327004] +synonym: "New World cutaneous leishmaniasis" EXACT [SNOMEDCT_2005_07_31:266122008] +xref: ICD10CM:B55.2 +xref: ICD9CM:085.5 +xref: MSH:D007897 +xref: SNOMEDCT_US_2015_03_01:186810001 +xref: SNOMEDCT_US_2015_03_01:39625001 +xref: SNOMEDCT_US_2015_03_01:403135004 +xref: UMLS_CUI:C1328252 +is_a: DOID:9065 ! leishmaniasis + +[Term] +id: DOID:9157 +name: Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes +synonym: "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes" EXACT [SNOMEDCT_2005_07_31:93513000] +synonym: "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188566001] +synonym: "Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9158 +name: Sezary's disease involving intra-abdominal lymph nodes +synonym: "Sezary's disease of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188632001] +synonym: "Szary's disease of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95256006] +is_obsolete: true + +[Term] +id: DOID:9159 +name: gas gangrene +def: "A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis." [url:http\://en.wikipedia.org/wiki/Gas_gangrene, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157] +subset: gram-positive_bacterial_infectious_disease +synonym: "(Gas gangrene) or (Clostridium infection)" EXACT [SNOMEDCT_2005_07_31:186407003] +synonym: "Gas bacillus infection" EXACT [SNOMEDCT_2005_07_31:276198000] +synonym: "Gas bacillus infection or gangrene" EXACT [MTHICD9_2006:040.0] +synonym: "Gas gangrene (disorder)" EXACT [SNOMEDCT_2005_07_31:80466000] +synonym: "Myonecrosis" EXACT [] +xref: ICD10CM:A48.0 +xref: ICD9CM:040.0 +xref: MSH:D005738 +xref: SNOMEDCT_US_2015_03_01:186407003 +xref: SNOMEDCT_US_2015_03_01:186413007 +xref: SNOMEDCT_US_2015_03_01:276198000 +xref: SNOMEDCT_US_2015_03_01:80466000 +xref: UMLS_CUI:C0017105 +is_a: DOID:0050339 ! commensal bacterial infectious disease + +[Term] +id: DOID:916 +name: liver neoplasm +alt_id: DOID:692 +synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [] +xref: NCI:C7103 +xref: NCI:C7106 +xref: UMLS_CUI:C1333419 +xref: UMLS_CUI:C1333976 +is_a: DOID:3117 ! hepatobiliary benign neoplasm + +[Term] +id: DOID:9161 +name: Sezary's disease involving intrapelvic lymph nodes +synonym: "Sezary's disease of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188635004] +synonym: "Szary's disease of intrapelvic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95257002] +is_obsolete: true + +[Term] +id: DOID:9164 +name: achalasia +def: "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000267.htm] +synonym: "achalasia of cardia" EXACT [SNOMEDCT_2005_07_31:155672003] +synonym: "achalasia of cardia" EXACT [MTHICD9_2006:530.0] +synonym: "achalasia of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:45564002] +synonym: "cardiospasm" EXACT [CSP2005:1248-5473] +synonym: "esophageal achalasia" EXACT [MTH:NOCODE] +synonym: "hypertensive lower esophageal sphincter (disorder)" EXACT [SNOMEDCT_2005_07_31:235630008] +synonym: "Lack of reflex relaxation of lower oesophageal sphincter" EXACT [SNOMEDCT_2005_07_31:17460002] +xref: ICD10CM:K22.0 +xref: ICD9CM:530.0 +xref: MSH:D004931 +xref: NCI:C84699 +xref: OMIM:200400 +xref: SNOMEDCT_US_2015_03_01:155672003 +xref: SNOMEDCT_US_2015_03_01:17460002 +xref: SNOMEDCT_US_2015_03_01:45564002 +xref: UMLS_CUI:C0014848 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:9165 +name: neurotic excoriation +synonym: "Dermatitis artefacta" EXACT [SNOMEDCT_2005_07_31:156384004] +synonym: "Dermatitis factitia (disorder)" EXACT [SNOMEDCT_2005_07_31:27720003] +synonym: "Dermatitis factitia [artefacta]" EXACT [ICD9CM_2006:698.4] +synonym: "Dermatitis ficta" EXACT [MTHICD9_2006:698.4] +synonym: "Factitious skin disease (disorder)" EXACT [SNOMEDCT_2005_07_31:402736003] +xref: ICD10CM:L98.1 +xref: ICD9CM:698.4 +xref: SNOMEDCT_US_2015_03_01:156384004 +xref: SNOMEDCT_US_2015_03_01:27720003 +xref: SNOMEDCT_US_2015_03_01:402736003 +xref: UMLS_CUI:C1274184 +is_a: DOID:2723 ! dermatitis + +[Term] +id: DOID:9169 +name: Wiskott-Aldrich syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Wiskott syndrome" EXACT [CSP2005:1849-0285] +xref: ICD10CM:D82.0 +xref: ICD9CM:279.12 +xref: MSH:D014923 +xref: NCI:C3448 +xref: OMIM:277970 +xref: OMIM:301000 +xref: SNOMEDCT_US_2015_03_01:36070007 +xref: UMLS_CUI:C0043194 +is_a: DOID:0050735 ! X-linked disease + +[Term] +id: DOID:917 +name: liver leiomyoma +synonym: "leiomyoma of the Liver" EXACT [NCI2004_11_17:C5753] +xref: NCI:C5753 +xref: UMLS_CUI:C1333968 +is_a: DOID:916 ! liver neoplasm + +[Term] +id: DOID:9173 +name: submandibular gland cancer +synonym: "malignant neoplasm of submaxillary gland" EXACT [MTHICD9_2006:142.1] +synonym: "malignant neoplasm of submaxillary gland" EXACT [SNOMEDCT_2005_07_31:94077005] +synonym: "malignant tumor of submandibular gland (disorder)" EXACT [SNOMEDCT_2005_07_31:363380002] +synonym: "malignant tumor of the Submandibular gland" EXACT [NCI2004_11_17:C3526] +xref: ICD10CM:C08.0 +xref: ICD9CM:142.1 +xref: NCI:C3526 +xref: SNOMEDCT_US_2015_03_01:363380002 +xref: SNOMEDCT_US_2015_03_01:94077005 +xref: UMLS_CUI:C0153360 +is_a: DOID:8850 ! salivary gland cancer + +[Term] +id: DOID:9174 +name: rectum carcinoma in situ +synonym: "carcinoma in situ of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:92696009] +synonym: "Severe dysplasia of rectum (disorder)" EXACT [SNOMEDCT_2005_07_31:308879003] +synonym: "Severe Rectal Dysplasia" EXACT [NCI2004_11_17:C4853] +xref: ICD10CM:D01.2 +xref: ICD9CM:230.4 +xref: NCI:C4853 +xref: SNOMEDCT_US_2015_03_01:308879003 +xref: SNOMEDCT_US_2015_03_01:92696009 +xref: UMLS_CUI:C0154062 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:918 +name: liver inflammatory pseudotumor +synonym: "Inflammatory Pseudotumor of the Liver" EXACT [NCI2004_11_17:C5858] +xref: NCI:C5858 +xref: UMLS_CUI:C1333967 +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:9180 +name: amebic colitis +def: "An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh] +synonym: "Amebic nondysenteric colitis (disorder)" EXACT [SNOMEDCT_2005_07_31:55023005] +synonym: "amoebic colitis" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9181 +name: amebiasis +alt_id: DOID:11901 +alt_id: DOID:11904 +def: "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." [url:http\://en.wikipedia.org/wiki/Amoebiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000298.htm] +synonym: "amoebiasis" EXACT [] +synonym: "chronic intestinal amebiasis" RELATED [] +synonym: "entamoebiasis" EXACT [] +xref: ICD10CM:A06 +xref: ICD10CM:A06.9 +xref: ICD9CM:006 +xref: ICD9CM:006.9 +xref: MSH:D000562 +xref: NCI:C84551 +xref: SNOMEDCT_US_2015_03_01:105637008 +xref: SNOMEDCT_US_2015_03_01:111909004 +xref: SNOMEDCT_US_2015_03_01:111910009 +xref: SNOMEDCT_US_2015_03_01:154274000 +xref: SNOMEDCT_US_2015_03_01:186122001 +xref: SNOMEDCT_US_2015_03_01:187278004 +xref: SNOMEDCT_US_2015_03_01:282008000 +xref: SNOMEDCT_US_2015_03_01:387754006 +xref: SNOMEDCT_US_2015_03_01:388759003 +xref: UMLS_CUI:C0002438 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:9182 +name: pemphigus +xref: ICD10CM:L10 +xref: ICD10CM:L10.9 +xref: ICD9CM:694.4 +xref: MSH:D010392 +xref: NCI:C34909 +xref: SNOMEDCT_US_2015_03_01:156355008 +xref: SNOMEDCT_US_2015_03_01:200908008 +xref: SNOMEDCT_US_2015_03_01:65172003 +xref: UMLS_CUI:C0030807 +is_a: DOID:8502 ! bullous skin disease + +[Term] +id: DOID:9184 +name: sleep arousal disorder +is_obsolete: true + +[Term] +id: DOID:9186 +name: Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb +synonym: "Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188528004] +synonym: "Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [SNOMEDCT_2005_07_31:93543003] +is_obsolete: true + +[Term] +id: DOID:9188 +name: vestibule of mouth cancer +synonym: "malignant neoplasm of vestibule of mouth NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187664006] +synonym: "malignant tumor of vestibule of mouth" EXACT [MTH:U001025] +synonym: "malignant tumor of vestibule of mouth (disorder)" EXACT [SNOMEDCT_2005_07_31:187658004] +xref: ICD10CM:C06.1 +xref: ICD9CM:145.1 +xref: SNOMEDCT_US_2015_03_01:187658004 +xref: SNOMEDCT_US_2015_03_01:187664006 +xref: SNOMEDCT_US_2015_03_01:94138009 +xref: UMLS_CUI:C0153374 +is_a: DOID:8618 ! oral cavity cancer + +[Term] +id: DOID:9189 +name: generalized hyperhidrosis +synonym: "Generalized hyperhidrosis (context-dependent category)" EXACT [SNOMEDCT_2005_07_31:206778009] +synonym: "Generalized hyperhidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:274673004] +is_obsolete: true + +[Term] +id: DOID:9191 +name: diabetic macular edema +synonym: "Diabetic macular edema (disorder)" EXACT [SNOMEDCT_2005_07_31:312912001] +xref: ICD9CM:362.07 +xref: SNOMEDCT_US_2015_03_01:312912001 +xref: UMLS_CUI:C0730285 +is_a: DOID:8947 ! diabetic retinopathy + +[Term] +id: DOID:9192 +name: dyskinesia of esophagus +synonym: "Dyskinesia of oesophagus" EXACT [SNOMEDCT_2005_07_31:61100004] +synonym: "Dyskinesia of oesophagus" EXACT [SNOMEDCT_2005_07_31:196614005] +synonym: "esophageal dysmotility (disorder)" EXACT [SNOMEDCT_2005_07_31:266434009] +synonym: "esophageal motility disorder" EXACT [MTH:NOCODE] +synonym: "Oesophageal dysmotility" EXACT [SNOMEDCT_2005_07_31:79962008] +synonym: "Oesophageal motor disorder" EXACT [SNOMEDCT_2005_07_31:40846004] +xref: ICD10CM:K22.4 +xref: ICD9CM:530.5 +xref: MSH:D015154 +xref: SNOMEDCT_US_2015_03_01:196614005 +xref: SNOMEDCT_US_2015_03_01:266434009 +xref: SNOMEDCT_US_2015_03_01:40846004 +xref: SNOMEDCT_US_2015_03_01:61100004 +xref: SNOMEDCT_US_2015_03_01:79962008 +xref: UMLS_CUI:C0014858 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:9195 +name: Herpes simplex virus keratitis +alt_id: DOID:8565 +alt_id: DOID:8624 +alt_id: DOID:9023 +def: "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." [url:http\://emedicine.medscape.com/article/1194268-overview] +synonym: "Dendritic Keratitis" EXACT [NCI2004_11_17:C34743] +synonym: "herpes simplex disciform keratitis" EXACT [] +synonym: "ocular herpes simplex" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9198 +name: Sezary's disease involving intrathoracic lymph nodes +synonym: "Sezary's disease of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188631008] +synonym: "Szary's disease of intrathoracic lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:95258007] +is_obsolete: true + +[Term] +id: DOID:9199 +name: cataplexy and narcolepsy +is_obsolete: true + +[Term] +id: DOID:92 +name: speech disorder +def: "A communication disorder that involves difficulty with the act of speech production." [url:http\://en.wikipedia.org/wiki/Speech_disorders] +xref: MSH:D013064 +xref: NCI:C5041 +xref: UMLS_CUI:C0037822 +is_a: DOID:2033 ! communication disorder + +[Term] +id: DOID:920 +name: childhood liver neoplasm +is_obsolete: true + +[Term] +id: DOID:9201 +name: lichen planus +def: "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known." [url:http\://en.wikipedia.org/wiki/Lichen_planus] +synonym: "Lichen Planus" EXACT [NCI2004_11_17:C3189] +synonym: "Lichen planus (disorder)" EXACT [SNOMEDCT_2005_07_31:4776004] +synonym: "Lichen planus NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201004002] +synonym: "lichen ruber planus" EXACT [CSP2005:2716-6962] +synonym: "Lichen, ruber planus" EXACT [MTHICD9_2006:697.0] +xref: ICD10CM:L43 +xref: ICD10CM:L43.9 +xref: ICD9CM:697.0 +xref: MSH:D008010 +xref: NCI:C3189 +xref: SNOMEDCT_US_2015_03_01:156377007 +xref: SNOMEDCT_US_2015_03_01:201004002 +xref: SNOMEDCT_US_2015_03_01:4776004 +xref: UMLS_CUI:C0023646 +is_a: DOID:8574 ! lichen disease + +[Term] +id: DOID:9202 +name: disorder of optic chiasm associated with pituitary neoplasm and disorder +is_obsolete: true + +[Term] +id: DOID:9203 +name: Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes +synonym: "Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)" EXACT [SNOMEDCT_2005_07_31:188512009] +is_obsolete: true + +[Term] +id: DOID:9206 +name: Barrett's esophagus +synonym: "(ulcerative esophagitis) or (Barrett's esophagus)" EXACT [SNOMEDCT_2005_07_31:196603007] +synonym: "Barrett esophagus" EXACT [MTH:NOCODE] +synonym: "Barrett's esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:302914006] +synonym: "Barrett's esophagus (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:76355008] +synonym: "Barrett's esophagus with esophagitis (disorder)" EXACT [SNOMEDCT_2005_07_31:235597001] +synonym: "Barrett's oesophagus" EXACT [SNOMEDCT_2005_07_31:155679007] +synonym: "Barrett's ulcer of esophagus (disorder)" EXACT [SNOMEDCT_2005_07_31:196609006] +synonym: "Barretts syndrome" EXACT [CSP2005:5000-0039] +synonym: "CLE" EXACT [NCI2004_11_17:C2891] +xref: EFO:0000280 +xref: ICD10CM:K22.7 +xref: ICD10CM:K22.70 +xref: ICD9CM:530.85 +xref: MSH:D001471 +xref: NCI:C2891 +xref: SNOMEDCT_US_2015_03_01:155679007 +xref: SNOMEDCT_US_2015_03_01:196603007 +xref: SNOMEDCT_US_2015_03_01:196609006 +xref: SNOMEDCT_US_2015_03_01:235597001 +xref: SNOMEDCT_US_2015_03_01:302914006 +xref: SNOMEDCT_US_2015_03_01:76355008 +xref: UMLS_CUI:C0004763 +is_a: DOID:6050 ! esophageal disease + +[Term] +id: DOID:9207 +name: periodic limb movement disorder +def: "A sleep disorder that involves involuntary limb movement during sleep." [url:http\://en.wikipedia.org/wiki/Periodic_limb_movement_disorder] +synonym: "nocturnal myoclonus" EXACT [] +xref: ICD10CM:G47.61 +xref: ICD9CM:327.51 +xref: MSH:D020189 +xref: SNOMEDCT_US_2015_03_01:418763003 +xref: UMLS_CUI:C0751774 +is_a: DOID:535 ! sleep disorder + +[Term] +id: DOID:9210 +name: geniculate herpes zoster +def: "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." [url:http\://emedicine.medscape.com/article/1166804-overview, url:http\://www.ramsayhunt.org/what.shtml] +synonym: "(Geniculate herpes zoster) or (Ramsey Hunt syndrome)" EXACT [SNOMEDCT_2005_07_31:186518000] +synonym: "geniculate neuralgia" EXACT [] +synonym: "Herpes zoster auricularis (disorder)" EXACT [SNOMEDCT_2005_07_31:21954000] +synonym: "Herpes Zoster Oticus" EXACT [MTH:NOCODE] +synonym: "Herpetic geniculate ganglionitis" EXACT [MTHICD9_2006:053.11] +synonym: "nervus intermedius neuralgia" EXACT [] +synonym: "Ramsay Hunt syndrome type 2" EXACT [] +synonym: "Ramsay Hunt syndrome type II" EXACT [] +xref: ICD10CM:B02.21 +xref: ICD9CM:053.11 +xref: MSH:D016697 +xref: NCI:C84763 +xref: SNOMEDCT_US_2015_03_01:154330004 +xref: SNOMEDCT_US_2015_03_01:186518000 +xref: SNOMEDCT_US_2015_03_01:186529001 +xref: SNOMEDCT_US_2015_03_01:21954000 +xref: UMLS_CUI:C0017409 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:9212 +name: pityriasis rubra pilaris +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Devergie's disease" EXACT [MTHICD9_2006:696.4] +synonym: "Pityriasis rubra pilaris (disorder)" EXACT [SNOMEDCT_2005_07_31:3755001] +xref: ICD10CM:L44.0 +xref: ICD9CM:696.4 +xref: MSH:D010916 +xref: NCI:C85014 +xref: OMIM:173200 +xref: SNOMEDCT_US_2015_03_01:3755001 +xref: UMLS_CUI:C0032027 +is_a: DOID:8893 ! psoriasis + +[Term] +id: DOID:9214 +name: Herpes simplex virus iridocyclitis +def: "A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision." [url:http\://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg, url:http\://en.wikipedia.org/wiki/Iridocyclitis] +synonym: "Herpes simplex iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:13608004] +is_obsolete: true + +[Term] +id: DOID:9216 +name: Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188585003] +synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93488004] +synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.71] +synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9217 +name: herpes zoster eyelid dermatitis +def: "A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection." [url:http\://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain] +synonym: "Herpes Zoster Dermatitis of eyelid" EXACT [NCI2004_11_17:C34696] +synonym: "Herpes zoster dermatitis of eyelids (disorder)" EXACT [SNOMEDCT_2005_07_31:67337008] +synonym: "Herpes zoster with dermatitis of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:186525007] +is_obsolete: true + +[Term] +id: DOID:9220 +name: central sleep apnea +def: "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing." [url:http\://en.wikipedia.org/wiki/Central_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "central sleep apnea syndrome" RELATED [] +synonym: "primary central sleep apnea" EXACT [] +xref: ICD10CM:G47.31 +xref: ICD9CM:327.21 +xref: MSH:D020182 +xref: OMIM:107640 +xref: OMIM:207720 +xref: SNOMEDCT_US_2015_03_01:9741000119101 +xref: UMLS_CUI:C0751762 +is_a: DOID:0050847 ! sleep apnea + +[Term] +id: DOID:9222 +name: lymphosarcoma involving lymph nodes of inguinal region and lower limb +is_obsolete: true + +[Term] +id: DOID:9224 +name: vulva herpetic infectious disease +def: "A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions." [url:http\://www.merck.com/mmhe/sec17/ch198/ch198e.html] +synonym: "Herpetic ulceration of vulva (disorder)" EXACT [SNOMEDCT_2005_07_31:59819007] +is_obsolete: true + +[Term] +id: DOID:9225 +name: Hodgkin's sarcoma involving intrapelvic lymph nodes +is_obsolete: true + +[Term] +id: DOID:9227 +name: Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck +synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder)" EXACT [SNOMEDCT_2005_07_31:188575004] +synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder)" EXACT [SNOMEDCT_2005_07_31:93506000] +synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck" EXACT [MTHICD9_2006:201.61] +synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck" RELATED [] +is_obsolete: true + +[Term] +id: DOID:9228 +name: congenital rubella +def: "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." [url:http\://en.wikipedia.org/wiki/Congenital_rubella] +synonym: "Congenital Rubella" EXACT [NCI2004_11_17:C34992] +synonym: "Congenital Rubella syndrome" EXACT [MTH:NOCODE] +synonym: "Congenital rubella syndrome" EXACT [SNOMEDCT_2005_07_31:157117002] +synonym: "Gestational rubella syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:1857005] +is_obsolete: true + +[Term] +id: DOID:9230 +name: dyshidrosis +synonym: "Cheiropompholyx" EXACT [MTHICD9_2006:705.81] +synonym: "Dyshidrosis (disorder)" EXACT [SNOMEDCT_2005_07_31:25560004] +synonym: "Dyshidrosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:201202007] +synonym: "Dyshidrosis unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:201199002] +synonym: "DYSHYDROSIS" EXACT [MTH:260] +synonym: "DYSHYDROTIC ECZEMA" EXACT [MTH:261] +synonym: "Pompholyx" EXACT [SNOMEDCT_2005_07_31:156416008] +synonym: "Pompholyx" EXACT [SNOMEDCT_2005_07_31:267865000] +synonym: "Pompholyx" EXACT [SNOMEDCT_2005_07_31:274946003] +synonym: "pompholyx" EXACT [CSP2005:2716-5992] +synonym: "Pompholyx unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:201200004] +synonym: "Vesicular eczema of hands and/or feet" EXACT [MTH:NOCODE] +synonym: "Vesicular eczema of hands and/or feet (disorder)" EXACT [SNOMEDCT_2005_07_31:402567004] +xref: ICD9CM:705.81 +xref: MSH:D011146 +xref: SNOMEDCT_US_2015_03_01:156416008 +xref: SNOMEDCT_US_2015_03_01:156417004 +xref: SNOMEDCT_US_2015_03_01:201198005 +xref: SNOMEDCT_US_2015_03_01:201199002 +xref: SNOMEDCT_US_2015_03_01:201200004 +xref: SNOMEDCT_US_2015_03_01:201202007 +xref: SNOMEDCT_US_2015_03_01:25560004 +xref: SNOMEDCT_US_2015_03_01:267865000 +xref: SNOMEDCT_US_2015_03_01:267866004 +xref: SNOMEDCT_US_2015_03_01:274946003 +xref: SNOMEDCT_US_2015_03_01:402567004 +xref: UMLS_CUI:C0032633 +is_a: DOID:1383 ! sweat gland disease + +[Term] +id: DOID:9234 +name: kidney carcinoma in situ +synonym: "carcinoma in situ of other and unspecified urinary organs (disorder)" EXACT [SNOMEDCT_2005_07_31:190185006] +xref: ICD10CM:D09.1 +xref: ICD9CM:233.9 +xref: SNOMEDCT_US_2015_03_01:190185006 +xref: UMLS_CUI:C0154092 +is_a: DOID:8719 ! in situ carcinoma + +[Term] +id: DOID:9235 +name: pyriform sinus cancer +synonym: "malignant neoplasm of pyriform fossa" EXACT [MTHICD9_2006:148.1] +synonym: "malignant neoplasm of the Pyriform Fossa" EXACT [NCI2004_11_17:C3531] +synonym: "malignant tumor of pyriform fossa (disorder)" EXACT [SNOMEDCT_2005_07_31:363401000] +xref: ICD10CM:C12 +xref: ICD9CM:148.1 +xref: NCI:C3531 +xref: SNOMEDCT_US_2015_03_01:363401000 +xref: SNOMEDCT_US_2015_03_01:93978008 +xref: UMLS_CUI:C0153400 +is_a: DOID:8533 ! hypopharynx cancer + +[Term] +id: DOID:9240 +name: erythromelalgia +synonym: "Erythromelalgia (disorder)" EXACT [SNOMEDCT_2005_07_31:37151006] +xref: ICD10CM:I73.81 +xref: ICD9CM:443.82 +xref: MSH:D004916 +xref: NCI:C34593 +xref: SNOMEDCT_US_2015_03_01:238777005 +xref: SNOMEDCT_US_2015_03_01:37151006 +xref: UMLS_CUI:C0014804 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:9241 +name: reticulosarcoma involving lymph nodes of axilla and upper limb +synonym: "Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:188492005] +synonym: "Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)" EXACT [SNOMEDCT_2005_07_31:95227006] +is_obsolete: true + +[Term] +id: DOID:9245 +name: Alagille syndrome +def: "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts." [url:http\://digestive.niddk.nih.gov/DDISEASES/pubs/alagille/] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Alagille-Watson syndrome" EXACT [CSP2005:5005-0002] +synonym: "Arteriohepatic dysplasia (disorder)" EXACT [SNOMEDCT_2005_07_31:31742004] +xref: ICD10CM:Q44.7 +xref: MSH:D016738 +xref: NCI:C35139 +xref: OMIM:118450 +xref: OMIM:610205 +xref: SNOMEDCT_US_2015_03_01:31742004 +xref: UMLS_CUI:C0085280 +is_a: DOID:409 ! liver disease + +[Term] +id: DOID:9246 +name: cerebral amyloid angiopathy +def: "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia." [OMIM:605714, url:http\://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [] +synonym: "Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder)" EXACT [SNOMEDCT_2005_07_31:56453003] +xref: MSH:D028243 +xref: OMIM:105150 +xref: OMIM:117300 +xref: OMIM:176500 +xref: OMIM:605714 +xref: ORDO:85458 +xref: SNOMEDCT_US_2015_03_01:56453003 +xref: UMLS_CUI:C0268394 +is_a: DOID:9120 ! amyloidosis + +[Term] +id: DOID:9248 +name: Pallister-Hall syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Pallister-Hall syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:56677004] +xref: MSH:D054975 +xref: NCI:C84987 +xref: OMIM:146510 +xref: SNOMEDCT_US_2015_03_01:56677004 +xref: UMLS_CUI:C0265220 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:9249 +name: Beemer-Langer syndrome +def: "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly." [url:http\://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome, url:http\://www.springerlink.com/content/e0hmfh4fcl7m4kjw/] +comment: OMIM mapping confirmed by DO. [LS]. +synonym: "type IV short rib polydactyly syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:254052001] +xref: MSH:C537599 +xref: OMIM:269860 +xref: SNOMEDCT_US_2015_03_01:254052001 +xref: UMLS_CUI:C0432198 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:9250 +name: acrocallosal syndrome +def: "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation." [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "ACLS" EXACT [OMIM:200990] +synonym: "SCHINZEL ACROCALLOSAL SYNDROME" EXACT [] +synonym: "Schinzel syndrome 1" EXACT [MTH:NOCODE] +xref: MSH:D055673 +xref: NCI:C84531 +xref: OMIM:200990 +xref: UMLS_CUI:C0796147 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:9252 +name: amino acid metabolic disorder +def: "An inherited metabolic disorders which impair the synthesis and degradation of amino acids." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism] +synonym: "inborn errors of amino acid metabolism" EXACT [] +xref: ICD10CM:E72.9 +xref: ICD9CM:270 +xref: ICD9CM:270.9 +xref: MSH:D000592 +xref: NCI:C97090 +xref: SNOMEDCT_US_2015_03_01:154734005 +xref: SNOMEDCT_US_2015_03_01:190680002 +xref: SNOMEDCT_US_2015_03_01:190740001 +xref: SNOMEDCT_US_2015_03_01:267496003 +xref: SNOMEDCT_US_2015_03_01:42930003 +xref: SNOMEDCT_US_2015_03_01:44779003 +xref: UMLS_CUI:C0002514 +is_a: DOID:655 ! inherited metabolic disorder + +[Term] +id: DOID:9253 +name: gastrointestinal stromal tumor +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "GANT" EXACT [NCI2004_11_17:C27940] +synonym: "GIST" EXACT [SNOMEDCT_2005_07_31:128755003] +synonym: "Stromal tumor of gastrointestinal tract" EXACT [NCI2004_11_17:C3868] +xref: MSH:D046152 +xref: NCI:C3868 +xref: OMIM:606764 +xref: SNOMEDCT_US_2015_03_01:128755003 +xref: SNOMEDCT_US_2015_03_01:420120006 +xref: UMLS_CUI:C0238198 +is_a: DOID:3119 ! gastrointestinal system cancer + +[Term] +id: DOID:9254 +name: mast-cell leukemia +def: "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." [url:http\://medical-dictionary.thefreedictionary.com/mast+cell+leukemia] +xref: ICD10CM:C94.3 +xref: ICD10CM:C94.30 +xref: MSH:D007946 +xref: NCI:C3169 +xref: SNOMEDCT_US_2015_03_01:110002002 +xref: SNOMEDCT_US_2015_03_01:128924002 +xref: SNOMEDCT_US_2015_03_01:188755006 +xref: SNOMEDCT_US_2015_03_01:70798001 +xref: UMLS_CUI:C0023461 +is_a: DOID:1240 ! leukemia + +[Term] +id: DOID:9255 +name: frontotemporal dementia +def: "A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language." [url:http\://en.wikipedia.org/wiki/Frontotemporal_dementia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21121521, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "frontotemporal lobar degeneration" EXACT [] +synonym: "multiple system tauopathy with presenile dementia" EXACT [] +synonym: "pallidopontonigral degeneration" EXACT [] +synonym: "Wilhemsen-Lynch disease" EXACT [] +xref: MSH:C563003 +xref: OMIM:600274 +xref: OMIM:600795 +xref: ORDO:282 +xref: SNOMEDCT_US_2015_03_01:42369001 +xref: UMLS_CUI:C0520716 +is_a: DOID:679 ! basal ganglia disease + +[Term] +id: DOID:9256 +name: colorectal cancer +def: "A large intestine cancer that is located_in the colon and/or located_in the rectum." [url:http\://www.cancer.gov/dictionary?CdrID=444983] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: KEGG:05210 +xref: MSH:D015179 +xref: OMIM:114500 +xref: OMIM:608812 +xref: OMIM:611469 +xref: OMIM:612229 +xref: OMIM:612230 +xref: OMIM:612231 +xref: OMIM:612232 +xref: OMIM:612589 +xref: OMIM:612590 +xref: OMIM:612591 +xref: OMIM:612592 +xref: OMIM:615083 +xref: UMLS_CUI:C1527249 +is_a: DOID:5672 ! large intestine cancer + +[Term] +id: DOID:9258 +name: Waardenburg's syndrome +def: "An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes." [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [CSP2005:4006-0098] +synonym: "Waardenburg Shah syndrome" EXACT [] +synonym: "Waardenburg syndrome" EXACT [MTHICD9_2006:270.2] +synonym: "Waardenburg, types I and/or II" EXACT [SNOMEDCT_2005_07_31:47434006] +synonym: "Waardenburg-Klein syndrome" EXACT [] +xref: MSH:D014849 +xref: NCI:C75008 +xref: NCI:C85222 +xref: OMIM:148820 +xref: OMIM:193500 +xref: OMIM:193510 +xref: OMIM:277580 +xref: OMIM:600193 +xref: OMIM:606662 +xref: OMIM:608890 +xref: OMIM:611584 +xref: OMIM:613265 +xref: OMIM:613266 +xref: ORDO:3440 +xref: ORDO:894 +xref: ORDO:895 +xref: ORDO:896 +xref: SNOMEDCT_US_2015_03_01:47434006 +xref: UMLS_CUI:C0079661 +xref: UMLS_CUI:C1847800 +xref: UMLS_CUI:C3266898 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:9261 +name: nasopharynx carcinoma +alt_id: DOID:8813 +alt_id: DOID:8814 +alt_id: DOID:9057 +alt_id: DOID:9144 +alt_id: DOID:9197 +alt_id: DOID:9229 +def: "A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or \"throat\", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "carcinoma of nasopharynx" RELATED [] +synonym: "malignant Nasopharyngeal tumor" EXACT [NCI2004_11_17:C9321] +synonym: "malignant neoplasm of anterior wall of nasopharynx" EXACT [] +synonym: "malignant neoplasm of lateral wall of nasopharynx" EXACT [] +synonym: "malignant neoplasm of lateral wall of nasopharynx NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187699005] +synonym: "malignant neoplasm of nasopharyngeal wall (disorder)" EXACT [SNOMEDCT_2005_07_31:240163000] +synonym: "malignant neoplasm of nasopharyngeal wall NOS" EXACT [MTHICD9_2006:147.9] +synonym: "malignant neoplasm of nasopharynx" EXACT [ICD9CM_2006:147, MTH:NOCODE] +synonym: "malignant neoplasm of nasopharynx (disorder) [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:93919005] +synonym: "malignant neoplasm of other specified sites of nasopharynx" EXACT [] +synonym: "malignant neoplasm of posterior wall of nasopharynx" EXACT [] +synonym: "malignant neoplasm of roof of nasopharynx" EXACT [MTHICD9_2006:147.0] +synonym: "malignant neoplasm of superior wall of nasopharynx" EXACT [] +synonym: "malignant tumor of anterior wall of nasopharynx" EXACT [MTH:U001027] +synonym: "malignant tumor of lateral wall of nasopharynx" EXACT [MTH:U003238] +synonym: "malignant tumor of posterior wall of nasopharynx" EXACT [MTH:U001026] +synonym: "Nasopharyngeal carcinoma" EXACT [NCI2004_11_17:C3871] +synonym: "nasopharynx cancer" EXACT [] +synonym: "primary malignant neoplasm of anterior wall of nasopharynx" EXACT [SNOMEDCT_2005_07_31:93674007] +xref: ICD10CM:C11 +xref: ICD10CM:C11.0 +xref: ICD10CM:C11.1 +xref: ICD10CM:C11.2 +xref: ICD10CM:C11.3 +xref: ICD10CM:C11.9 +xref: ICD9CM:147 +xref: ICD9CM:147.0 +xref: ICD9CM:147.1 +xref: ICD9CM:147.2 +xref: ICD9CM:147.3 +xref: ICD9CM:147.9 +xref: MSH:D009303 +xref: NCI:C9321 +xref: OMIM:161550 +xref: OMIM:607101 +xref: OMIM:607107 +xref: ORDO:150 +xref: SNOMEDCT_US_2015_03_01:187692001 +xref: SNOMEDCT_US_2015_03_01:187693006 +xref: SNOMEDCT_US_2015_03_01:187696003 +xref: SNOMEDCT_US_2015_03_01:187699005 +xref: SNOMEDCT_US_2015_03_01:187700006 +xref: SNOMEDCT_US_2015_03_01:187704002 +xref: SNOMEDCT_US_2015_03_01:187707009 +xref: SNOMEDCT_US_2015_03_01:363397008 +xref: SNOMEDCT_US_2015_03_01:363398003 +xref: SNOMEDCT_US_2015_03_01:93861003 +xref: SNOMEDCT_US_2015_03_01:93919005 +xref: SNOMEDCT_US_2015_03_01:93970001 +xref: SNOMEDCT_US_2015_03_01:94078000 +xref: UMLS_CUI:C0153392 +xref: UMLS_CUI:C0153393 +xref: UMLS_CUI:C0153394 +xref: UMLS_CUI:C0153395 +xref: UMLS_CUI:C0153396 +xref: UMLS_CUI:C0238301 +is_a: DOID:0060119 ! pharynx cancer + +[Term] +id: DOID:9263 +name: homocystinuria +def: "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine." [url:http\://en.wikipedia.org/wiki/Homocystinuria] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "CBS deficiency" EXACT [] +synonym: "cystathionine beta synthase deficiency" EXACT [] +synonym: "cystathionine synthase deficiency" EXACT [CSP2005:1849-0835] +synonym: "Homocystinuria (disorder)" EXACT [SNOMEDCT_2005_07_31:11282001] +xref: ICD10CM:E72.11 +xref: MSH:D006712 +xref: NCI:C84765 +xref: OMIM:236200 +xref: OMIM:236250 +xref: ORDO:394 +xref: SNOMEDCT_US_2015_03_01:11282001 +xref: SNOMEDCT_US_2015_03_01:190709008 +xref: UMLS_CUI:C0019880 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9264 +name: sulfuraminoacidemia +synonym: "Disturbance of sulfur-bearing amino acid metabolism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267421004] +synonym: "Disturbance of sulphur-bearing amino-acid metabolism NOS" EXACT [SNOMEDCT_2005_07_31:190712006] +synonym: "Disturbances of sulphur-bearing amino-acid metabolism" EXACT [ICD9CM_2006:270.4] +synonym: "Sulphuraminoacidaemia" EXACT [SNOMEDCT_2005_07_31:28882002] +is_obsolete: true + +[Term] +id: DOID:9265 +name: histidine metabolism disease +def: "An amino acid metabolic disorder that involves deficiency in histidine." [url:http\://en.wikipedia.org/wiki/Histidine#Metabolism] +synonym: "Disturbances of histidine metabolism" EXACT [ICD9CM_2006:270.5] +xref: ICD10CM:E70.4 +xref: ICD10CM:E70.40 +xref: ICD9CM:270.5 +xref: SNOMEDCT_US_2015_03_01:190715008 +xref: SNOMEDCT_US_2015_03_01:44176004 +xref: UMLS_CUI:C0268512 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9266 +name: cystinuria +def: "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder." [url:http\://en.wikipedia.org/wiki/Cystinuria] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:E72.01 +xref: MSH:D003555 +xref: NCI:C84664 +xref: OMIM:220100 +xref: SNOMEDCT_US_2015_03_01:154738008 +xref: SNOMEDCT_US_2015_03_01:267498002 +xref: SNOMEDCT_US_2015_03_01:85020001 +xref: UMLS_CUI:C0010691 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9267 +name: urea cycle disorder +def: "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream." [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder] +synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [] +synonym: "disorder of urea cycle metabolism" EXACT [ICD9CM_2006:270.6] +synonym: "urea cycle defect" EXACT [] +xref: ICD10CM:E72.2 +xref: ICD10CM:E72.20 +xref: ICD9CM:270.6 +xref: MSH:D056806 +xref: NCI:C84785 +xref: SNOMEDCT_US_2015_03_01:36444000 +xref: UMLS_CUI:C0154246 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9268 +name: glycine encephalopathy +def: "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues." [url:http\://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Non-ketotic hyperglycinemia " EXACT [] +synonym: "Non-ketotic hyperglycinemia (disorder)" EXACT [SNOMEDCT_2005_07_31:237939006] +synonym: "nonketotic hyperglycinemia" EXACT [CSP2005:1849-0664] +xref: ICD10CM:E72.51 +xref: MSH:D020158 +xref: NCI:C84937 +xref: OMIM:605899 +xref: SNOMEDCT_US_2015_03_01:237939006 +xref: UMLS_CUI:C0751748 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9269 +name: maple syrup urine disease +def: "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "branched chain ketoaciduria" EXACT [CSP2005:1849-1063] +synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [OMIM:246900] +synonym: "Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001] +xref: ICD10CM:E71.0 +xref: MSH:D008375 +xref: NCI:C34806 +xref: OMIM:246900 +xref: OMIM:248600 +xref: OMIM:615135 +xref: ORDO:511 +xref: SNOMEDCT_US_2015_03_01:27718001 +xref: UMLS_CUI:C0024776 +is_a: DOID:0060159 ! organic acidemia + +[Term] +id: DOID:927 +name: metastatic malignant neoplasm to brain +synonym: "metastatic neoplasm to the Brain" EXACT [NCI2004_11_17:C3813] +synonym: "secondary malignant neoplasm of brain (disorder)" EXACT [SNOMEDCT_2005_07_31:94225005] +is_obsolete: true + +[Term] +id: DOID:9270 +name: alkaptonuria +alt_id: DOID:0050714 +def: "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct." [url:http\://en.wikipedia.org/wiki/Alkaptonuria] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "alcaptonuria" EXACT [] +synonym: "deficiency of homogentisicase" RELATED [SNOMEDCT_2005_07_31:124207005] +synonym: "Homogentisate 1,2-dioxygenase deficiency" EXACT [SNOMEDCT_2005_07_31:267418001] +xref: ICD10CM:E70.29 +xref: MSH:D000474 +xref: NCI:C84546 +xref: OMIM:203500 +xref: ORDO:56 +xref: SNOMEDCT_US_2015_03_01:124207005 +xref: SNOMEDCT_US_2015_03_01:190689001 +xref: SNOMEDCT_US_2015_03_01:24250001 +xref: SNOMEDCT_US_2015_03_01:267418001 +xref: SNOMEDCT_US_2015_03_01:360378009 +xref: SNOMEDCT_US_2015_03_01:360381004 +xref: SNOMEDCT_US_2015_03_01:367388008 +xref: UMLS_CUI:C0002066 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9271 +name: ornithine carbamoyltransferase deficiency +def: "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "deficiency of citrulline phosphorylase" EXACT [SNOMEDCT_2005_07_31:80908008] +synonym: "ornithine transcarbamylase deficiency" EXACT [CSP2005:1849-9662] +xref: ICD10CM:E72.4 +xref: MSH:D020163 +xref: NCI:C84957 +xref: OMIM:311250 +xref: SNOMEDCT_US_2015_03_01:124249000 +xref: SNOMEDCT_US_2015_03_01:80908008 +xref: UMLS_CUI:C0268542 +is_a: DOID:9267 ! urea cycle disorder + +[Term] +id: DOID:9273 +name: citrullinemia +def: "An urea cycle disorder that involves the accumulation of ammonia in the blood." [url:http\://en.wikipedia.org/wiki/Citrullinemia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "ASS deficiency" EXACT [CSP2005:1849-9492] +synonym: "deficiency of citrulline-aspartate ligase" EXACT [SNOMEDCT_2005_07_31:124711003] +xref: ICD10CM:E72.23 +xref: MSH:D020159 +xref: NCI:C84639 +xref: OMIM:215700 +xref: OMIM:603471 +xref: OMIM:605814 +xref: ORDO:187 +xref: SNOMEDCT_US_2015_03_01:124711003 +xref: SNOMEDCT_US_2015_03_01:15489004 +xref: SNOMEDCT_US_2015_03_01:398630005 +xref: SNOMEDCT_US_2015_03_01:398680004 +xref: UMLS_CUI:C0175683 +is_a: DOID:9267 ! urea cycle disorder + +[Term] +id: DOID:9274 +name: hyperlysinemia +def: "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood." [url:http\://en.wikipedia.org/wiki/Hyperlysinemia] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:E72.3 +xref: MSH:D020167 +xref: OMIM:238700 +xref: OMIM:238710 +xref: ORDO:2203 +xref: SNOMEDCT_US_2015_03_01:58558003 +xref: UMLS_CUI:C0268553 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9275 +name: tyrosinemia +def: "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine." [url:http\://en.wikipedia.org/wiki/Tyrosinemia] +comment: OMIM mapping submitted by NeuroDevNet. [LS]. +xref: ICD10CM:E70.21 +xref: MSH:D020176 +xref: NCI:C98640 +xref: SNOMEDCT_US_2015_03_01:190694001 +xref: UMLS_CUI:C0268483 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9277 +name: primary cerebellar degeneration +xref: ICD9CM:334.2 +xref: MSH:D013132 +xref: SNOMEDCT_US_2015_03_01:192868000 +xref: SNOMEDCT_US_2015_03_01:192872001 +xref: SNOMEDCT_US_2015_03_01:23732000 +xref: UMLS_CUI:C0033132 +is_a: DOID:1289 ! neurodegenerative disease + +[Term] +id: DOID:9278 +name: hyperargininemia +def: "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine." [url:http\://www.medlink.com/medlinkcontent.asp] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Arginase deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:23501004] +synonym: "argininemia" EXACT [CSP2005:1849-9378] +synonym: "deficiency of canavanase" EXACT [SNOMEDCT_2005_07_31:124518006] +xref: ICD10CM:E72.21 +xref: MSH:D020162 +xref: NCI:C84568 +xref: OMIM:207800 +xref: SNOMEDCT_US_2015_03_01:124518006 +xref: SNOMEDCT_US_2015_03_01:23501004 +xref: UMLS_CUI:C0268548 +is_a: DOID:9267 ! urea cycle disorder + +[Term] +id: DOID:9279 +name: hyperhomocysteinemia +def: "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." [url:http\://en.wikipedia.org/wiki/Hyperhomocysteinemia] +xref: MSH:D020138 +xref: NCI:C84770 +xref: SNOMEDCT_US_2015_03_01:419503008 +xref: UMLS_CUI:C0598608 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:928 +name: CNS metastases +synonym: "CNS metastases (tumor staging)" EXACT [SNOMEDCT_2005_07_31:261731003] +synonym: "metastatic tumor to the CNS" EXACT [NCI2004_11_17:C4015] +is_obsolete: true + +[Term] +id: DOID:9280 +name: carbamoyl phosphate synthetase I deficiency disease +def: "An amino acid metabolic disorder that involves accumulation of ammonia in the blood." [url:http\://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "CPS I deficiency" EXACT [] +xref: MSH:D020165 +xref: NCI:C84612 +xref: OMIM:237300 +xref: SNOMEDCT_US_2015_03_01:62522004 +xref: UMLS_CUI:C0751753 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9281 +name: phenylketonuria +alt_id: DOID:14455 +def: "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional." [url:http\://en.wikipedia.org/wiki/Phenylketonuria] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Følling's disease" EXACT [] +synonym: "maternal phenylketonuria" EXACT [] +synonym: "phenylalaninemia" EXACT [CSP2005:1849-1177] +synonym: "PKU" EXACT [MTHICD9_2006:270.1] +xref: ICD9CM:270.1 +xref: MSH:D010661 +xref: MSH:D017042 +xref: NCI:C81315 +xref: OMIM:261600 +xref: SNOMEDCT_US_2015_03_01:154735006 +xref: SNOMEDCT_US_2015_03_01:190687004 +xref: SNOMEDCT_US_2015_03_01:297225000 +xref: UMLS_CUI:C0031485 +xref: UMLS_CUI:C0085547 +is_a: DOID:9252 ! amino acid metabolic disorder + +[Term] +id: DOID:9282 +name: ocular hypertension +synonym: "Ocular hypertension" EXACT [SNOMEDCT_2005_07_31:267721003] +synonym: "Ocular hypertension" EXACT [SNOMEDCT_2005_07_31:155121008] +synonym: "Ocular hypertension" EXACT [ICD9CM_2006:365.04] +synonym: "Ocular hypertension" EXACT [SNOMEDCT_2005_07_31:193536008] +synonym: "Ocular hypertension (disorder)" EXACT [SNOMEDCT_2005_07_31:4210003] +xref: ICD10CM:H40.05 +xref: ICD9CM:365.04 +xref: MSH:D009798 +xref: NCI:C3285 +xref: SNOMEDCT_US_2015_03_01:155121008 +xref: SNOMEDCT_US_2015_03_01:193536008 +xref: SNOMEDCT_US_2015_03_01:267721003 +xref: SNOMEDCT_US_2015_03_01:4210003 +xref: UMLS_CUI:C0028840 +is_a: DOID:9283 ! borderline glaucoma + +[Term] +id: DOID:9283 +name: borderline glaucoma +synonym: "Preglaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:359633007] +synonym: "Preglaucoma, NOS" EXACT [SNOMEDCT_2005_07_31:47891005] +synonym: "Preglaucoma, unspecified" EXACT [ICD9CM_2006:365.00] +synonym: "Unspecified preglaucoma (disorder)" EXACT [SNOMEDCT_2005_07_31:193532005] +xref: ICD10CM:H40.00 +xref: ICD9CM:365.00 +xref: SNOMEDCT_US_2015_03_01:193532005 +xref: SNOMEDCT_US_2015_03_01:359633007 +xref: SNOMEDCT_US_2015_03_01:47891005 +xref: UMLS_CUI:C0549470 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:9286 +name: priapism +def: "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain." [url:http\://en.wikipedia.org/wiki/Priapism, url:http\://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx] +synonym: "Mentulagra" EXACT [SNOMEDCT_2005_07_31:4287008] +synonym: "Priapism (disorder)" EXACT [SNOMEDCT_2005_07_31:6273006] +xref: ICD10:N48.3 +xref: ICD10CM:N48.3 +xref: ICD10CM:N48.30 +xref: ICD9CM:607.3 +xref: MSH:D011317 +xref: NCI:C85022 +xref: SNOMEDCT_US_2015_03_01:155930001 +xref: SNOMEDCT_US_2015_03_01:198027001 +xref: SNOMEDCT_US_2015_03_01:4287008 +xref: SNOMEDCT_US_2015_03_01:6273006 +xref: UMLS_CUI:C0033117 +is_a: DOID:341 ! peripheral vascular disease + +[Term] +id: DOID:9287 +name: penile vascular disorder +synonym: "vascular disorder of penis" EXACT [ICD9CM_2006:607.82] +is_obsolete: true + +[Term] +id: DOID:929 +name: myopathy of extraocular muscle +synonym: "Myopathy of extraocular muscles (disorder)" EXACT [SNOMEDCT_2005_07_31:57130002] +xref: ICD10CM:H05.82 +xref: ICD9CM:376.82 +xref: SNOMEDCT_US_2015_03_01:57130002 +xref: UMLS_CUI:C0155286 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:9296 +name: cleft lip +alt_id: DOID:9333 +synonym: "cheiloschisis" EXACT [] +synonym: "cleft lip, unilateral, complete" EXACT [ICD9CM_2006:749.11] +synonym: "complete unilateral cleft lip" EXACT [] +synonym: "hare lip" EXACT [CSP2005:0725-8436] +synonym: "Labium leporinum" EXACT [MTHICD9_2006:749.1] +xref: EFO:0003959 +xref: ICD10CM:Q36 +xref: ICD10CM:Q36.9 +xref: ICD9CM:749.1 +xref: ICD9CM:749.10 +xref: ICD9CM:749.11 +xref: MSH:D002971 +xref: NCI:C87175 +xref: SNOMEDCT_US_2015_03_01:156941008 +xref: SNOMEDCT_US_2015_03_01:204606000 +xref: SNOMEDCT_US_2015_03_01:204609007 +xref: SNOMEDCT_US_2015_03_01:62696001 +xref: SNOMEDCT_US_2015_03_01:80281008 +xref: UMLS_CUI:C0008924 +xref: UMLS_CUI:C0158651 +is_a: DOID:0050567 ! orofacial cleft + +[Term] +id: DOID:9297 +name: lip disease +synonym: "disease of lips" EXACT [ICD9CM_2006:528.5] +synonym: "disease of lips NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:196563002] +synonym: "disorder of lip (disorder)" EXACT [SNOMEDCT_2005_07_31:90678009] +synonym: "Lip disorder" EXACT [NCI2004_11_17:C26818] +xref: ICD10CM:K13.0 +xref: ICD9CM:528.5 +xref: MSH:D008047 +xref: NCI:C26818 +xref: SNOMEDCT_US_2015_03_01:196563002 +xref: SNOMEDCT_US_2015_03_01:90678009 +xref: UMLS_CUI:C0023760 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:9299 +name: myocardium cancer +alt_id: DOID:14536 +synonym: "malignant Myocardial tumor" EXACT [NCI2004_11_17:C4569] +synonym: "malignant neoplasm of myocardium" EXACT [MTHICD9_2006:164.1, SNOMEDCT_2005_07_31:93914000] +synonym: "tumor of Myocardium" EXACT [NCI2004_11_17:C5349] +xref: NCI:C4569 +xref: NCI:C5349 +xref: SNOMEDCT_US_2015_03_01:126732009 +xref: SNOMEDCT_US_2015_03_01:363437005 +xref: SNOMEDCT_US_2015_03_01:93914000 +xref: UMLS_CUI:C0346611 +xref: UMLS_CUI:C1290402 +is_a: DOID:117 ! heart cancer + +[Term] +id: DOID:93 +name: language disorder +def: "A communication disorder that involves the processing of linguistic information." [url:http\://en.wikipedia.org/wiki/Language_disorder] +xref: ICD10CM:F80.9 +xref: MSH:D007806 +xref: NCI:C97155 +xref: SNOMEDCT_US_2015_03_01:62305002 +xref: UMLS_CUI:C0023015 +is_a: DOID:2033 ! communication disorder + +[Term] +id: DOID:930 +name: orbital disease +def: "An adnexa disease that is located_in the eye socket." [url:http\://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html] +xref: ICD10CM:H05 +xref: ICD10CM:H05.9 +xref: ICD9CM:376 +xref: ICD9CM:376.9 +xref: MSH:D009916 +xref: SNOMEDCT_US_2015_03_01:11270005 +xref: SNOMEDCT_US_2015_03_01:155200004 +xref: SNOMEDCT_US_2015_03_01:194036005 +xref: SNOMEDCT_US_2015_03_01:267746003 +xref: UMLS_CUI:C0029182 +is_a: DOID:0050815 ! eye adnexa disease + +[Term] +id: DOID:9300 +name: neurofibroma of the heart +synonym: "Neurofibroma of Heart" EXACT [NCI2004_11_17:C5359] +xref: NCI:C5359 +xref: UMLS_CUI:C1096349 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:9305 +name: splenic tuberculosis +def: "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A18.85 +xref: ICD9CM:017.7 +xref: MSH:D014400 +xref: SNOMEDCT_US_2015_03_01:28399005 +xref: UMLS_CUI:C0041331 +is_a: DOID:0050599 ! abdominal tuberculosis + +[Term] +id: DOID:9306 +name: mechanical strabismus +xref: ICD10CM:H50.6 +xref: ICD10CM:H50.60 +xref: ICD9CM:378.6 +xref: ICD9CM:378.60 +xref: MSH:D013285 +xref: SNOMEDCT_US_2015_03_01:194121009 +xref: SNOMEDCT_US_2015_03_01:194124001 +xref: SNOMEDCT_US_2015_03_01:5371001 +xref: UMLS_CUI:C0152223 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9307 +name: rectal prolapse +synonym: "Procidentia, rectum" EXACT [MTHICD9_2006:569.1] +xref: ICD10CM:K62.3 +xref: ICD9CM:569.1 +xref: MSH:D012005 +xref: NCI:C34973 +xref: SNOMEDCT_US_2015_03_01:155802002 +xref: SNOMEDCT_US_2015_03_01:197212009 +xref: SNOMEDCT_US_2015_03_01:197214005 +xref: SNOMEDCT_US_2015_03_01:197215006 +xref: SNOMEDCT_US_2015_03_01:57773001 +xref: UMLS_CUI:C0034888 +is_a: DOID:1285 ! rectal disease + +[Term] +id: DOID:931 +name: monieziasis +def: "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15287174, url:http\://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis] +subset: zoonotic_infectious_disease +xref: MSH:D008989 +xref: UMLS_CUI:C0026414 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:9310 +name: nasal cavity neoplasm +synonym: "neoplasm of nasal cavity (disorder)" EXACT [SNOMEDCT_2005_07_31:126670003] +synonym: "tumor of the nasal cavity" EXACT [NCI2004_11_17:C4413] +xref: NCI:C4413 +xref: SNOMEDCT_US_2015_03_01:126670003 +xref: UMLS_CUI:C0345630 +is_a: DOID:0050621 ! respiratory system benign neoplasm + +[Term] +id: DOID:9312 +name: chronic ethmoiditis +def: "A ethmoid sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] +synonym: "chronic ethmoid sinusitis" EXACT [] +synonym: "chronic ethmoidal sinusitis" EXACT [NCI2004_11_17:C34472] +synonym: "chronic ethmoidal sinusitis" EXACT [ICD9CM_2006:473.2] +synonym: "chronic ethmoidal sinusitis (disorder)" EXACT [SNOMEDCT_2005_07_31:73237007] +synonym: "ethmoidal sinusitis - chronic" EXACT [SNOMEDCT_2005_07_31:266384001] +synonym: "ethmoidal sinusitis - chronic" EXACT [SNOMEDCT_2005_07_31:155528009] +xref: ICD10CM:J32.2 +xref: ICD9CM:473.2 +xref: NCI:C34472 +xref: SNOMEDCT_US_2015_03_01:155528009 +xref: SNOMEDCT_US_2015_03_01:266384001 +xref: SNOMEDCT_US_2015_03_01:73237007 +xref: UMLS_CUI:C0008681 +is_a: DOID:9507 ! ethmoid sinusitis + +[Term] +id: DOID:9314 +name: glaucoma associated with anomalies of iris +synonym: "Glaucoma associated with anomalies of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:26467009] +is_obsolete: true + +[Term] +id: DOID:9317 +name: lymphangitis +def: "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." [url:http\://en.wikipedia.org/wiki/Lymphangitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis] +subset: gram-positive_bacterial_infectious_disease +synonym: "Lymphangitis (disorder)" EXACT [SNOMEDCT_2005_07_31:1415005] +synonym: "Lymphangitis NOS" EXACT [MTHICD9_2006:457.2] +synonym: "Lymphangitis NOS" EXACT [SNOMEDCT_2005_07_31:266335009] +xref: ICD10CM:I89.1 +xref: ICD9CM:457.2 +xref: MSH:D008205 +xref: NCI:C34790 +xref: SNOMEDCT_US_2015_03_01:1415005 +xref: SNOMEDCT_US_2015_03_01:266335009 +xref: UMLS_CUI:C0024225 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:9321 +name: intervertebral disc disorder +alt_id: DOID:10984 +alt_id: DOID:10985 +alt_id: DOID:12831 +synonym: "Displacement of lumbar intervertebral disc without myelopathy" EXACT [ICD9CM_2006:722.10] +synonym: "Displacement of lumbar intervertebral disc without myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:20021007] +synonym: "displacement of the lumbar or lumbosacral intervertebral disc without myelopathy" EXACT [] +synonym: "displacement of thoracic intervertebral disc without myelopathy" EXACT [] +synonym: "Displacement of thoracic intervertebral disc without myelopathy (disorder)" EXACT [SNOMEDCT_2005_07_31:64787009] +synonym: "displacement of thoracic or lumbar intervertebral disc without myelopathy" EXACT [] +is_obsolete: true + +[Term] +id: DOID:933 +name: Cestoda infectious disease +alt_id: DOID:10077 +def: "A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract." [url:http\://en.wikipedia.org/wiki/Cestodes] +synonym: "Cestode infection (disorder)" EXACT [SNOMEDCT_2005_07_31:86133004] +synonym: "Cestode infection NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:187156004] +synonym: "Cestode infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187530000] +synonym: "Cestode infestation" EXACT [SNOMEDCT_2005_07_31:154410004] +synonym: "Cestode infestation" EXACT [SNOMEDCT_2005_07_31:266219000] +synonym: "disease due to Cestoda" EXACT [SNOMEDCT_2005_07_31:105677000] +synonym: "Infection by Taenia (disorder)" EXACT [SNOMEDCT_2005_07_31:76172008] +synonym: "Taenia infestation" EXACT [SNOMEDCT_2005_07_31:154415009, SNOMEDCT_2005_07_31:266222003] +synonym: "Taeniasis, unspecified" EXACT [ICD9CM_2006:123.3] +synonym: "Taeniasis, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187525004] +synonym: "Tapeworm infection NOS" EXACT [MTHICD9_2006:123.9] +synonym: "teniasis" EXACT [] +synonym: "Unspecified teniasis (disorder)" EXACT [SNOMEDCT_2005_07_31:187150005] +is_obsolete: true + +[Term] +id: DOID:9335 +name: scotoma +alt_id: DOID:10750 +alt_id: DOID:10751 +alt_id: DOID:9482 +synonym: "Blind spot area scotoma NOS (finding)" EXACT [SNOMEDCT_2005_07_31:193673000] +synonym: "Enlarged angioscotoma" EXACT [MTHICD9_2006:368.42] +synonym: "Enlarged blind spot" EXACT [] +synonym: "Enlarged paracaecal scotoma" EXACT [SNOMEDCT_2005_07_31:33970004] +synonym: "Generalized visual field contraction or constriction" EXACT [] +synonym: "Scotoma of blind spot area" EXACT [ICD9CM_2006:368.42] +synonym: "Sector or arcuate visual field defects" EXACT [] +xref: ICD10CM:H53.42 +xref: ICD10CM:H53.43 +xref: ICD10CM:H53.45 +xref: ICD9CM:368.42 +xref: ICD9CM:368.43 +xref: ICD9CM:368.44 +xref: ICD9CM:368.45 +xref: SNOMEDCT_US_2015_03_01:193673000 +xref: SNOMEDCT_US_2015_03_01:33970004 +xref: UMLS_CUI:C0029657 +xref: UMLS_CUI:C0152192 +xref: UMLS_CUI:C0155011 +xref: UMLS_CUI:C0155012 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:9336 +name: bestiality +synonym: "Zoophilia" EXACT [ICD9CM_2006:302.1] +xref: ICD9CM:302.1 +xref: SNOMEDCT_US_2015_03_01:154907002 +xref: SNOMEDCT_US_2015_03_01:268763002 +xref: SNOMEDCT_US_2015_03_01:31997002 +xref: SNOMEDCT_US_2015_03_01:81463002 +xref: UMLS_CUI:C0152186 +is_a: DOID:0060044 ! paraphilia disorder + +[Term] +id: DOID:9339 +name: urethral false passage +synonym: "urethral false passage (disorder)" EXACT [SNOMEDCT_2005_07_31:74944002] +xref: ICD10CM:N36.5 +xref: ICD9CM:599.4 +xref: SNOMEDCT_US_2015_03_01:74944002 +xref: UMLS_CUI:C0156286 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:934 +name: viral infectious disease +alt_id: DOID:1329 +def: "A disease by infectious agent that results_in infection, has_material_basis_in Viruses." [url:http\://www.merck.com/mmhe/sec17/ch198/ch198a.html] +synonym: "arbovirus infectious disease" EXACT [] +synonym: "arthropod-borne viruses" RELATED [] +synonym: "Viral disease" EXACT [SNOMEDCT_2005_07_31:266188005] +synonym: "Viral disease" EXACT [SNOMEDCT_2005_07_31:154319002] +synonym: "Viral disease (disorder)" EXACT [SNOMEDCT_2005_07_31:34014006] +synonym: "Viral Infection" EXACT [NCI2004_11_17:C3439] +synonym: "Viral infection NOS" EXACT [MTHICD9_2006:079.99] +synonym: "Viral infection NOS" EXACT [SNOMEDCT_2005_07_31:154372003] +synonym: "Viral infection NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:266116004] +synonym: "Viral infection, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:187471008] +synonym: "Viral: [infection NOS] or [illness]" EXACT [SNOMEDCT_2005_07_31:186754003] +synonym: "virus infection" EXACT [CSP2005:3099-8150] +synonym: "virus infection" EXACT [CSP2005:3099-7852] +xref: ICD10CM:A94 +xref: ICD10CM:B34 +xref: ICD10CM:B34.9 +xref: ICD9CM:060-066.99 +xref: ICD9CM:066.9 +xref: MSH:D001102 +xref: MSH:D014777 +xref: NCI:C3439 +xref: NCI:C34396 +xref: SNOMEDCT_US_2015_03_01:154319002 +xref: SNOMEDCT_US_2015_03_01:154345006 +xref: SNOMEDCT_US_2015_03_01:154372003 +xref: SNOMEDCT_US_2015_03_01:186619002 +xref: SNOMEDCT_US_2015_03_01:186754003 +xref: SNOMEDCT_US_2015_03_01:187471008 +xref: SNOMEDCT_US_2015_03_01:266116004 +xref: SNOMEDCT_US_2015_03_01:266188005 +xref: SNOMEDCT_US_2015_03_01:266194002 +xref: SNOMEDCT_US_2015_03_01:34014006 +xref: SNOMEDCT_US_2015_03_01:40610006 +xref: UMLS_CUI:C0003723 +xref: UMLS_CUI:C0042769 +is_a: DOID:0050117 ! disease by infectious agent + +[Term] +id: DOID:9340 +name: cheilopalatoschisis +alt_id: DOID:12562 +alt_id: DOID:12833 +synonym: "cleft palate with cleft lip, unilateral, complete" EXACT [ICD9CM_2006:749.21] +synonym: "cleft palate with cleft lip, unilateral, incomplete" EXACT [ICD9CM_2006:749.22] +synonym: "Complete unilateral cleft palate with cleft lip (disorder)" EXACT [SNOMEDCT_2005_07_31:50484006] +synonym: "incomplete unilateral cleft palate with cleft lip (disorder)" EXACT [SNOMEDCT_2005_07_31:18474007] +synonym: "Unilateral complete cleft palate with cleft lip" EXACT [] +synonym: "Unilateral complete cleft palate with cleft lip (disorder)" EXACT [SNOMEDCT_2005_07_31:204612005] +synonym: "Unilateral incomplete cleft palate with cleft lip" EXACT [] +synonym: "Unilateral incomplete cleft palate with cleft lip (disorder)" EXACT [SNOMEDCT_2005_07_31:204613000] +is_obsolete: true + +[Term] +id: DOID:9341 +name: urethral diverticulum +synonym: "urethral Diverticulum" EXACT [NCI2004_11_17:C39861] +synonym: "urethral diverticulum (disorder)" EXACT [SNOMEDCT_2005_07_31:90531003] +xref: ICD10CM:N36.1 +xref: ICD9CM:599.2 +xref: NCI:C39861 +xref: SNOMEDCT_US_2015_03_01:90531003 +xref: UMLS_CUI:C0152443 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:9346 +name: Taylor's syndrome +synonym: "Congestion-fibrosis syndrome" EXACT [MTHICD9_2006:625.5] +synonym: "pelvic congestion syndrome" EXACT [SNOMEDCT_2005_07_31:156027002] +synonym: "pelvic congestion syndrome" EXACT [ICD9CM_2006:625.5] +synonym: "pelvic congestion syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:39402007] +synonym: "Taylor syndrome" EXACT [] +xref: ICD9CM:625.5 +xref: SNOMEDCT_US_2015_03_01:156027002 +xref: SNOMEDCT_US_2015_03_01:39402007 +xref: UMLS_CUI:C0152078 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:9348 +name: carotid artery dissection +synonym: "Carotid artery dissection (disorder)" EXACT [SNOMEDCT_2005_07_31:230729006] +synonym: "Dissection of carotid artery" EXACT [ICD9CM_2006:443.21] +xref: ICD10CM:I77.71 +xref: ICD9CM:443.21 +xref: SNOMEDCT_US_2015_03_01:230729006 +xref: UMLS_CUI:C0338585 +is_a: DOID:3407 ! carotid artery disease + +[Term] +id: DOID:9351 +name: diabetes mellitus +def: "A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." [PMID:9686693, url:http\://www.who.int/diabetes/action_online/basics/en/, url:https\://en.wikipedia.org/wiki/Diabetes_mellitus] +xref: ICD10CM:E08-E13 +xref: ICD10CM:E11 +xref: ICD9CM:250 +xref: MSH:D003920 +xref: NCI:C2985 +xref: SNOMEDCT_US_2015_03_01:154671004 +xref: SNOMEDCT_US_2015_03_01:191044006 +xref: SNOMEDCT_US_2015_03_01:267467004 +xref: SNOMEDCT_US_2015_03_01:73211009 +xref: UMLS_CUI:C0011849 +is_a: DOID:4194 ! glucose metabolism disease + +[Term] +id: DOID:9352 +name: type 2 diabetes mellitus +def: "A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly." [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_2] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "NIDDM" EXACT [] +synonym: "non-insulin-dependent diabetes mellitus" EXACT [] +synonym: "type II diabetes mellitus" EXACT [] +xref: EFO:0001360 +xref: ICD10CM:E11 +xref: KEGG:04930 +xref: MSH:D003924 +xref: NCI:C26747 +xref: OMIM:125853 +xref: OMIM:601283 +xref: OMIM:601407 +xref: OMIM:603694 +xref: OMIM:608036 +xref: SNOMEDCT_US_2015_03_01:154672006 +xref: SNOMEDCT_US_2015_03_01:190323008 +xref: SNOMEDCT_US_2015_03_01:190384004 +xref: SNOMEDCT_US_2015_03_01:267468009 +xref: SNOMEDCT_US_2015_03_01:44054006 +xref: UMLS_CUI:C0011860 +is_a: DOID:9351 ! diabetes mellitus + +[Term] +id: DOID:9353 +name: congenital hip dislocation +synonym: "Congen. disloc. hip" EXACT [SNOMEDCT_2005_07_31:157001006] +synonym: "Congen. disloc. hip" EXACT [SNOMEDCT_2005_07_31:268347007] +synonym: "Congenital dislocation of hip" EXACT [ICD9CM_2006:754.3] +synonym: "Congenital dislocation of hip NOS" EXACT [SNOMEDCT_2005_07_31:205050009] +synonym: "Congenital dislocation of hip NOS" EXACT [MTHICD9_2006:754.30] +synonym: "Congenital dislocation of hip NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:205061001] +synonym: "Congenital dysplasia of the hip" EXACT [SNOMEDCT_2005_07_31:205337000] +synonym: "Developmental dislocation of hip" EXACT [SNOMEDCT_2005_07_31:48334007] +synonym: "Developmental dysplasia of the hip" EXACT [SNOMEDCT_2005_07_31:52781008] +is_obsolete: true + +[Term] +id: DOID:9357 +name: hyperemesis gravidarum +is_obsolete: true + +[Term] +id: DOID:9358 +name: fibular collateral ligament bursitis +synonym: "Fibular collateral ligament bursitis (disorder)" EXACT [SNOMEDCT_2005_07_31:77323000] +xref: ICD9CM:726.63 +xref: SNOMEDCT_US_2015_03_01:202870007 +xref: SNOMEDCT_US_2015_03_01:77323000 +xref: UMLS_CUI:C0158316 +is_a: DOID:204 ! enthesopathy + +[Term] +id: DOID:9359 +name: enthesopathy of knee +is_obsolete: true + +[Term] +id: DOID:936 +name: brain disease +alt_id: DOID:8510 +synonym: "encephalopathy" EXACT [] +xref: ICD10CM:G93.40 +xref: ICD10CM:G93.9 +xref: ICD9CM:348.3 +xref: ICD9CM:348.30 +xref: ICD9CM:348.9 +xref: MSH:D001927 +xref: NCI:C26920 +xref: NCI:C96413 +xref: SNOMEDCT_US_2015_03_01:155053002 +xref: SNOMEDCT_US_2015_03_01:193051008 +xref: SNOMEDCT_US_2015_03_01:193059005 +xref: SNOMEDCT_US_2015_03_01:76011009 +xref: SNOMEDCT_US_2015_03_01:81308009 +xref: UMLS_CUI:C0006111 +xref: UMLS_CUI:C0085584 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:9360 +name: intrinsic asthma +alt_id: DOID:9361 +alt_id: DOID:9363 +def: "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." [url:http\://www.aafa.org/display.cfm?id=8&sub=17, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf] +xref: ICD10CM:J45 +xref: ICD9CM:493.1 +xref: SNOMEDCT_US_2015_03_01:155576005 +xref: SNOMEDCT_US_2015_03_01:195973000 +xref: SNOMEDCT_US_2015_03_01:195976008 +xref: SNOMEDCT_US_2015_03_01:266361008 +xref: SNOMEDCT_US_2015_03_01:266397004 +xref: SNOMEDCT_US_2015_03_01:8312004 +xref: UMLS_CUI:C0155880 +is_a: DOID:2841 ! asthma + +[Term] +id: DOID:9362 +name: status asthmaticus +def: "An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment." [url:http\://www.ncbi.nlm.nih.gov/pubmed/11399724] +synonym: "Asthma with status asthmaticus (disorder)" EXACT [SNOMEDCT_2005_07_31:57546000] +synonym: "Severe asthma attack" EXACT [SNOMEDCT_2005_07_31:195980003] +xref: ICD9CM:493.91 +xref: MSH:D013224 +xref: SNOMEDCT_US_2015_03_01:155577001 +xref: SNOMEDCT_US_2015_03_01:195980003 +xref: SNOMEDCT_US_2015_03_01:266363006 +xref: SNOMEDCT_US_2015_03_01:36979006 +xref: SNOMEDCT_US_2015_03_01:57546000 +xref: SNOMEDCT_US_2015_03_01:708090002 +xref: UMLS_CUI:C0038218 +is_a: DOID:2841 ! asthma + +[Term] +id: DOID:9365 +name: vesiculitis +synonym: "Seminal vesiculitis" EXACT [ICD9CM_2006:608.0] +xref: ICD10CM:N49.0 +xref: ICD9CM:608.0 +xref: SNOMEDCT_US_2015_03_01:155935006 +xref: SNOMEDCT_US_2015_03_01:198043008 +xref: SNOMEDCT_US_2015_03_01:198044002 +xref: SNOMEDCT_US_2015_03_01:27001009 +xref: UMLS_CUI:C0042588 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:9368 +name: keratoconjunctivitis +alt_id: DOID:9367 +synonym: "certain types of keratoconjunctivitis" EXACT [] +xref: ICD10CM:H16.2 +xref: ICD10CM:H16.20 +xref: ICD9CM:370.40 +xref: MSH:D007637 +xref: NCI:C34744 +xref: SNOMEDCT_US_2015_03_01:155154005 +xref: SNOMEDCT_US_2015_03_01:193757003 +xref: SNOMEDCT_US_2015_03_01:193780006 +xref: SNOMEDCT_US_2015_03_01:88151007 +xref: UMLS_CUI:C0022573 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:9369 +name: orbital plasma cell granuloma +synonym: "Idiopathic orbital inflammation" EXACT [SNOMEDCT_2005_07_31:302901005] +synonym: "Inflammatory pseudotumor of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:72789009] +synonym: "orbital myositis" EXACT [ICD9CM_2006:376.12] +synonym: "orbital myositis" EXACT [SNOMEDCT_2005_07_31:194009008] +synonym: "orbital myositis (disorder)" EXACT [SNOMEDCT_2005_07_31:80698001] +synonym: "Pseudotumor of orbit" EXACT [MTHICD9_2006:376.11] +xref: ICD10CM:H05.11 +xref: MSH:D016727 +xref: SNOMEDCT_US_2015_03_01:302901005 +xref: SNOMEDCT_US_2015_03_01:72789009 +xref: UMLS_CUI:C0085270 +is_a: DOID:1397 ! chronic orbital inflammation + +[Term] +id: DOID:937 +name: DNA virus infectious disease +def: "A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase." [url:http\://en.wikipedia.org/wiki/DNA_viruses] +is_obsolete: true + +[Term] +id: DOID:9370 +name: exophthalmos +def: "An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit." [url:http\://en.wikipedia.org/wiki/Exophthalmos] +synonym: "proptosis" EXACT [CSP2005:1114-8967] +xref: ICD10CM:H05.20 +xref: ICD9CM:376.30 +xref: MSH:D005094 +xref: NCI:C43262 +xref: NCI:C87114 +xref: SNOMEDCT_US_2015_03_01:155200004 +xref: SNOMEDCT_US_2015_03_01:18265008 +xref: SNOMEDCT_US_2015_03_01:267746003 +xref: UMLS_CUI:C0015300 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:9373 +name: postural kyphosis +def: "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes] +is_obsolete: true + +[Term] +id: DOID:9375 +name: Fuchs' heterochromic uveitis +def: "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." [url:http\://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis, url:www.uveitissociety.org/pages/diseases/fhu.pdf] +synonym: "Fuch's Heterochromic iridocyclitis" EXACT [] +synonym: "Fuchs uveitis syndrome" EXACT [SNOMEDCT_2005_07_31:11226001] +synonym: "Fuchs' heterochromic cyclitis" EXACT [ICD9CM_2006:364.21] +xref: ICD10CM:H20.81 +xref: ICD9CM:364.21 +xref: SNOMEDCT_US_2015_03_01:11226001 +xref: UMLS_CUI:C0016782 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:9377 +name: pigment dispersion syndrome of iris +synonym: "Pigmentary iris degeneration" EXACT [SNOMEDCT_2005_07_31:193506004] +synonym: "Pigmentary iris degeneration" EXACT [ICD9CM_2006:364.53] +synonym: "Pigmentary iris degeneration (disorder)" EXACT [SNOMEDCT_2005_07_31:70397008] +is_obsolete: true + +[Term] +id: DOID:9378 +name: glaucomatocyclitic crisis +synonym: "Glaucomatocyclitic crises" EXACT [ICD9CM_2006:364.22] +synonym: "Glaucomatocyclitic crisis (disorder)" EXACT [SNOMEDCT_2005_07_31:29538005] +synonym: "Terrien-Viel syndrome" EXACT [] +xref: ICD9CM:364.22 +xref: SNOMEDCT_US_2015_03_01:29538005 +xref: UMLS_CUI:C0152138 +is_a: DOID:9383 ! iridocyclitis + +[Term] +id: DOID:9379 +name: glaucoma with ocular inflammation +synonym: "Glaucoma associated with ocular inflammations" EXACT [ICD9CM_2006:365.62] +synonym: "Glaucoma associated with ocular inflammations (disorder)" EXACT [SNOMEDCT_2005_07_31:37155002] +is_obsolete: true + +[Term] +id: DOID:9383 +name: iridocyclitis +alt_id: DOID:9376 +alt_id: DOID:9380 +synonym: "primary iridocyclitis" EXACT [] +xref: ICD10CM:H20.01 +xref: ICD9CM:364.01 +xref: ICD9CM:364.2 +xref: SNOMEDCT_US_2015_03_01:12630008 +xref: SNOMEDCT_US_2015_03_01:193485000 +xref: SNOMEDCT_US_2015_03_01:193496008 +xref: UMLS_CUI:C0007832 +xref: UMLS_CUI:C0154909 +is_a: DOID:1407 ! anterior uveitis + +[Term] +id: DOID:9384 +name: gonococcal iridocyclitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:9091006] +xref: ICD10CM:A54.32 +xref: ICD9CM:098.41 +xref: SNOMEDCT_US_2015_03_01:186922002 +xref: SNOMEDCT_US_2015_03_01:9091006 +xref: UMLS_CUI:C0153212 +is_a: DOID:9383 ! iridocyclitis + +[Term] +id: DOID:9385 +name: gonococcal eye infectious disease +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9388 +name: lens-induced iridocyclitis +synonym: "Lens-induced iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:70461003] +xref: ICD10CM:H20.2 +xref: ICD9CM:364.23 +xref: SNOMEDCT_US_2015_03_01:70461003 +xref: UMLS_CUI:C0339320 +is_a: DOID:9383 ! iridocyclitis + +[Term] +id: DOID:9389 +name: infectious anterior uveitis +synonym: "Infectious secondary iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:89114005] +synonym: "secondary infected iridocyclitis (disorder)" EXACT [SNOMEDCT_2005_07_31:193487008] +synonym: "secondary iridocyclitis, infectious" EXACT [ICD9CM_2006:364.03] +xref: ICD10CM:H20.03 +xref: ICD9CM:364.03 +xref: SNOMEDCT_US_2015_03_01:193487008 +xref: SNOMEDCT_US_2015_03_01:89114005 +xref: UMLS_CUI:C0154911 +is_a: DOID:9383 ! iridocyclitis + +[Term] +id: DOID:9392 +name: tracheitis +alt_id: DOID:0050149 +alt_id: DOID:9391 +def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." [url:http\://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh] +synonym: "acute tracheitis" EXACT [ICD9CM_2006:464.1, SNOMEDCT_2005_07_31:155507000] +synonym: "acute tracheitis (disorder)" EXACT [SNOMEDCT_2005_07_31:26650005] +synonym: "acute tracheitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195693005] +synonym: "chronic tracheitis" EXACT [] +synonym: "Tracheitis (disorder)" EXACT [SNOMEDCT_2005_07_31:62994001] +synonym: "Tracheitis, NOS" EXACT [MTHICD9_2006:464.1] +xref: ICD10CM:J04.1 +xref: ICD9CM:464.1 +xref: MSH:D014136 +xref: SNOMEDCT_US_2015_03_01:155507000 +xref: SNOMEDCT_US_2015_03_01:195693005 +xref: SNOMEDCT_US_2015_03_01:26650005 +xref: SNOMEDCT_US_2015_03_01:62994001 +xref: UMLS_CUI:C0040584 +xref: UMLS_CUI:C0149513 +is_a: DOID:3225 ! tracheal disease + +[Term] +id: DOID:9395 +name: croup +def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." [url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000959.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup] +synonym: "acute laryngotracheobronchitis" EXACT [SNOMEDCT_2005_07_31:155510007] +synonym: "acute laryngotracheobronchitis" EXACT [SNOMEDCT_2005_07_31:195702002] +synonym: "acute Obstructive Laryngitis" EXACT [NCI2004_11_17:C26735] +synonym: "Croup (disorder)" EXACT [SNOMEDCT_2005_07_31:71186008] +synonym: "Croup syndrome" EXACT [MTHICD9_2006:464.4] +synonym: "Laryngotracheobronchitis" EXACT [] +xref: ICD10CM:J05.0 +xref: ICD9CM:464.4 +xref: MSH:D003440 +xref: NCI:C26735 +xref: SNOMEDCT_US_2015_03_01:155510007 +xref: SNOMEDCT_US_2015_03_01:195702002 +xref: SNOMEDCT_US_2015_03_01:71186008 +xref: UMLS_CUI:C0010380 +is_a: DOID:1579 ! respiratory system disease + +[Term] +id: DOID:9396 +name: acute laryngitis +alt_id: DOID:12334 +def: "A laryngitis which lasts less than a few days." [url:http\://en.wikipedia.org/wiki/Laryngitis] +synonym: "acute laryngitis with obstruction" EXACT [] +synonym: "acute laryngitis with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:408669002] +xref: ICD10CM:J04.0 +xref: ICD9CM:464.0 +xref: ICD9CM:464.01 +xref: NCI:C26688 +xref: SNOMEDCT_US_2015_03_01:155506009 +xref: SNOMEDCT_US_2015_03_01:195690008 +xref: SNOMEDCT_US_2015_03_01:408669002 +xref: SNOMEDCT_US_2015_03_01:6655004 +xref: UMLS_CUI:C0001327 +xref: UMLS_CUI:C0949123 +is_a: DOID:3437 ! laryngitis + +[Term] +id: DOID:9398 +name: epiglottitis +alt_id: DOID:9397 +alt_id: DOID:9479 +alt_id: DOID:9481 +def: "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." [url:http\://en.wikipedia.org/wiki/Epiglottitis] +synonym: "acute epiglottitis" EXACT [] +synonym: "acute epiglottitis (disorder)" EXACT [SNOMEDCT_2005_07_31:29608009] +synonym: "acute epiglottitis and supraglottitis" EXACT [SNOMEDCT_2005_07_31:155509002] +synonym: "acute epiglottitis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:195701009] +synonym: "acute epiglottitis with obstruction" EXACT [] +synonym: "acute epiglottitis with obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:222008] +synonym: "acute epiglottitis without mention of obstruction" EXACT [ICD9CM_2006:464.30] +synonym: "acute epiglottitis without obstruction" EXACT [] +synonym: "acute epiglottitis without obstruction (disorder)" EXACT [SNOMEDCT_2005_07_31:49908003] +synonym: "Epiglottitis (disorder)" EXACT [SNOMEDCT_2005_07_31:80384002] +xref: ICD10CM:J05.1 +xref: ICD10CM:J05.10 +xref: ICD9CM:464.3 +xref: MSH:D004826 +xref: SNOMEDCT_US_2015_03_01:155509002 +xref: SNOMEDCT_US_2015_03_01:195701009 +xref: SNOMEDCT_US_2015_03_01:29608009 +xref: SNOMEDCT_US_2015_03_01:80384002 +xref: UMLS_CUI:C0014541 +xref: UMLS_CUI:C0155814 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:9401 +name: epididymo-orchitis +xref: ICD10CM:N45 +xref: ICD10CM:N45.3 +xref: ICD9CM:604 +xref: ICD9CM:604.90 +xref: SNOMEDCT_US_2015_03_01:155913003 +xref: SNOMEDCT_US_2015_03_01:155915005 +xref: SNOMEDCT_US_2015_03_01:155917002 +xref: SNOMEDCT_US_2015_03_01:197983000 +xref: SNOMEDCT_US_2015_03_01:198001001 +xref: SNOMEDCT_US_2015_03_01:198003003 +xref: SNOMEDCT_US_2015_03_01:198004009 +xref: SNOMEDCT_US_2015_03_01:24084007 +xref: UMLS_CUI:C0149881 +is_a: DOID:9402 ! epididymitis + +[Term] +id: DOID:9402 +name: epididymitis +xref: ICD10CM:N45.1 +xref: MSH:D004823 +xref: SNOMEDCT_US_2015_03_01:155914009 +xref: SNOMEDCT_US_2015_03_01:197993007 +xref: SNOMEDCT_US_2015_03_01:197998003 +xref: SNOMEDCT_US_2015_03_01:31070006 +xref: UMLS_CUI:C0014534 +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:9403 +name: isolated explosive disorder +is_obsolete: true + +[Term] +id: DOID:9405 +name: pituitary dwarfism +synonym: "Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]" EXACT [SNOMEDCT_2005_07_31:190476004] +synonym: "hypopituitary dwarfism" EXACT [CSP2005:2715-1517] +synonym: "Lorain - Levi dwarfism" EXACT [SNOMEDCT_2005_07_31:302867007] +is_obsolete: true + +[Term] +id: DOID:9406 +name: hypopituitarism +def: "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland." [url:http\://en.wikipedia.org/wiki/Hypopituitarism] +comment: Xref MGI. +subset: DO_MGI_slim +synonym: "pituitary hormone deficiency" EXACT [] +synonym: "Pituitary hypofunction" RELATED [SNOMEDCT_2005_07_31:154703006] +synonym: "Pituitary insufficiency NOS" EXACT [MTHICD9_2006:253.2] +xref: ICD10CM:E23.0 +xref: MSH:D007018 +xref: NCI:C62591 +xref: OMIM:221750 +xref: OMIM:262600 +xref: OMIM:262700 +xref: OMIM:613038 +xref: OMIM:613986 +xref: ORDO:95494 +xref: SNOMEDCT_US_2015_03_01:154703006 +xref: SNOMEDCT_US_2015_03_01:190469009 +xref: SNOMEDCT_US_2015_03_01:237681002 +xref: SNOMEDCT_US_2015_03_01:267482009 +xref: SNOMEDCT_US_2015_03_01:74728003 +xref: UMLS_CUI:C0020635 +is_a: DOID:53 ! pituitary gland disease + +[Term] +id: DOID:9407 +name: strictly posterior acute myocardial infarction +xref: ICD9CM:410.60 +xref: UMLS_CUI:C0155652 +is_a: DOID:9408 ! acute myocardial infarction + +[Term] +id: DOID:9408 +name: acute myocardial infarction +xref: ICD10CM:I21.3 +xref: ICD9CM:410 +xref: ICD9CM:410.9 +xref: ICD9CM:410.90 +xref: NCI:C35204 +xref: SNOMEDCT_US_2015_03_01:155304006 +xref: SNOMEDCT_US_2015_03_01:194796000 +xref: SNOMEDCT_US_2015_03_01:194811003 +xref: SNOMEDCT_US_2015_03_01:266288001 +xref: SNOMEDCT_US_2015_03_01:57054005 +xref: UMLS_CUI:C0155626 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:9409 +name: diabetes insipidus +xref: ICD10CM:E23.2 +xref: ICD9CM:253.5 +xref: MSH:D003919 +xref: NCI:C43263 +xref: SNOMEDCT_US_2015_03_01:15771004 +xref: SNOMEDCT_US_2015_03_01:190484000 +xref: UMLS_CUI:C0011848 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:9410 +name: panhypopituitarism +synonym: "Panhypopituitarism (disorder)" EXACT [SNOMEDCT_2005_07_31:32390006] +synonym: "Panhypopituitarism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190475000] +synonym: "Simmond's disease" EXACT [SNOMEDCT_2005_07_31:190469009] +synonym: "Simmonds' disease" EXACT [MTHICD9_2006:253.2] +synonym: "Simmonds' disease" EXACT [CSP2005:2335-9587] +xref: ICD10CM:E23.0 +xref: ICD9CM:253.2 +xref: MSH:C580003 +xref: NCI:C110940 +xref: SNOMEDCT_US_2015_03_01:154700009 +xref: SNOMEDCT_US_2015_03_01:190469009 +xref: SNOMEDCT_US_2015_03_01:190475000 +xref: SNOMEDCT_US_2015_03_01:267481002 +xref: SNOMEDCT_US_2015_03_01:32390006 +xref: UMLS_CUI:C0242343 +is_a: DOID:9406 ! hypopituitarism + +[Term] +id: DOID:9411 +name: gonococcal endocarditis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal endocarditis (disorder)" EXACT [SNOMEDCT_2005_07_31:61048000] +is_obsolete: true + +[Term] +id: DOID:9413 +name: Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:9414 +name: abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:9415 +name: allergic asthma +alt_id: DOID:9416 +alt_id: DOID:9417 +def: "An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness." [url:http\://www.aafa.org/display.cfm?id=8&sub=16] +synonym: "atopic asthma" RELATED [] +synonym: "extrinsic asthma with acute exacerbation" EXACT [] +synonym: "extrinsic asthma with status asthmaticus" EXACT [] +synonym: "Extrinsic asthma with status asthmaticus (disorder)" EXACT [SNOMEDCT_2005_07_31:91340006] +xref: ICD10CM:J45 +xref: ICD9CM:493.0 +xref: SNOMEDCT_US_2015_03_01:155575009 +xref: SNOMEDCT_US_2015_03_01:16862005 +xref: SNOMEDCT_US_2015_03_01:195968006 +xref: SNOMEDCT_US_2015_03_01:195972005 +xref: SNOMEDCT_US_2015_03_01:233680000 +xref: SNOMEDCT_US_2015_03_01:266358007 +xref: SNOMEDCT_US_2015_03_01:266396008 +xref: SNOMEDCT_US_2015_03_01:389145006 +xref: SNOMEDCT_US_2015_03_01:389146007 +xref: UMLS_CUI:C0155877 +is_a: DOID:2841 ! asthma + +[Term] +id: DOID:9422 +name: abscess of eyelid +synonym: "abscess of eyelid (disorder)" EXACT [SNOMEDCT_2005_07_31:76126009] +is_obsolete: true + +[Term] +id: DOID:9423 +name: blepharitis +alt_id: DOID:13824 +def: "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow." [url:http\://en.wikipedia.org/wiki/Blepharitis] +synonym: "Infective dermatitis of eyelid of types resulting in deformity" EXACT [] +synonym: "Infective eyelid dermatitis of types resulting in deformity (disorder)" EXACT [SNOMEDCT_2005_07_31:193920003] +xref: ICD10CM:H01.0 +xref: ICD10CM:H01.00 +xref: ICD10CM:H01.9 +xref: ICD9CM:373.0 +xref: ICD9CM:373.00 +xref: ICD9CM:373.4 +xref: ICD9CM:373.9 +xref: MSH:D001762 +xref: NCI:C112183 +xref: SNOMEDCT_US_2015_03_01:155170007 +xref: SNOMEDCT_US_2015_03_01:155171006 +xref: SNOMEDCT_US_2015_03_01:155175002 +xref: SNOMEDCT_US_2015_03_01:193907001 +xref: SNOMEDCT_US_2015_03_01:193908006 +xref: SNOMEDCT_US_2015_03_01:193909003 +xref: SNOMEDCT_US_2015_03_01:193910008 +xref: SNOMEDCT_US_2015_03_01:193920003 +xref: SNOMEDCT_US_2015_03_01:193925008 +xref: SNOMEDCT_US_2015_03_01:396712002 +xref: SNOMEDCT_US_2015_03_01:41446000 +xref: UMLS_CUI:C0005741 +xref: UMLS_CUI:C0155181 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:9426 +name: tuberculous bronchiectasis +def: "A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes." [url:http\://chestjournal.chestpubs.org/content/22/1/46.full.pdf] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9427 +name: hypertensive encephalopathy +xref: ICD10CM:I67.4 +xref: ICD9CM:437.2 +xref: MSH:D020343 +xref: NCI:C3503 +xref: SNOMEDCT_US_2015_03_01:155408008 +xref: SNOMEDCT_US_2015_03_01:195225002 +xref: SNOMEDCT_US_2015_03_01:50490005 +xref: UMLS_CUI:C0151620 +is_a: DOID:9428 ! intracranial hypertension + +[Term] +id: DOID:9428 +name: intracranial hypertension +synonym: "Raised intracranial pressure" EXACT [SNOMEDCT_2005_07_31:271719001] +xref: MSH:D019586 +xref: NCI:C84791 +xref: SNOMEDCT_US_2015_03_01:155052007 +xref: SNOMEDCT_US_2015_03_01:267701004 +xref: SNOMEDCT_US_2015_03_01:271719001 +xref: SNOMEDCT_US_2015_03_01:28073009 +xref: UMLS_CUI:C0151740 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:9432 +name: renal glycosuria +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "renal diabetes" EXACT [MTHICD9_2006:271.4] +xref: ICD10CM:E74.8 +xref: ICD9CM:271.4 +xref: MSH:D006030 +xref: OMIM:233100 +xref: SNOMEDCT_US_2015_03_01:154737003 +xref: SNOMEDCT_US_2015_03_01:190759004 +xref: SNOMEDCT_US_2015_03_01:1913007 +xref: SNOMEDCT_US_2015_03_01:236367002 +xref: SNOMEDCT_US_2015_03_01:267430007 +xref: SNOMEDCT_US_2015_03_01:367418000 +xref: UMLS_CUI:C0017980 +is_a: DOID:447 ! renal tubular transport disease + +[Term] +id: DOID:9439 +name: chronic cholangitis +xref: NCI:C35335 +xref: SNOMEDCT_US_2015_03_01:71912000 +xref: UMLS_CUI:C0267918 +is_a: DOID:9446 ! cholangitis + +[Term] +id: DOID:9442 +name: cervical mullerian papilloma +xref: NCI:C40215 +xref: UMLS_CUI:C1516427 +is_a: DOID:0060110 ! cervical benign neoplasm + +[Term] +id: DOID:9443 +name: cervix blue nevus +is_obsolete: true + +[Term] +id: DOID:9445 +name: cervix squamous papilloma +synonym: "squamous papilloma of the Cervix Uteri" EXACT [NCI2004_11_17:C6342] +xref: NCI:C6342 +xref: UMLS_CUI:C1336900 +is_a: DOID:0060110 ! cervical benign neoplasm + +[Term] +id: DOID:9446 +name: cholangitis +def: "A bile duct disease that is an inflammation of the bile duct." [url:http\://en.wikipedia.org/wiki/Cholangitis] +xref: ICD10CM:K83.0 +xref: ICD9CM:576.1 +xref: MSH:D002761 +xref: NCI:C26718 +xref: SNOMEDCT_US_2015_03_01:155831003 +xref: SNOMEDCT_US_2015_03_01:197445007 +xref: SNOMEDCT_US_2015_03_01:82403002 +xref: UMLS_CUI:C0008311 +is_a: DOID:4138 ! bile duct disease + +[Term] +id: DOID:9450 +name: infectious disease of the breast and nipple associated with childbirth +alt_id: DOID:11281 +alt_id: DOID:12523 +alt_id: DOID:12963 +alt_id: DOID:13600 +alt_id: DOID:1437 +alt_id: DOID:1438 +alt_id: DOID:1879 +alt_id: DOID:1880 +is_obsolete: true + +[Term] +id: DOID:9452 +name: fatty liver disease +alt_id: DOID:9451 +def: "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis." [url:http\://en.wikipedia.org/wiki/Fatty_liver] +comment: PRISM. +synonym: "alcoholic fatty liver" EXACT [] +synonym: "Fatty change of liver" EXACT [SNOMEDCT_2005_07_31:390002007] +synonym: "hepatic lipidosis" EXACT [SNOMEDCT_2005_07_31:5360002] +synonym: "Steatosis of liver (disorder)" EXACT [SNOMEDCT_2005_07_31:197321007] +xref: ICD10CM:K70.0 +xref: ICD9CM:571.0 +xref: MSH:D005234 +xref: MSH:D005235 +xref: SNOMEDCT_US_2015_03_01:197321007 +xref: SNOMEDCT_US_2015_03_01:371330000 +xref: SNOMEDCT_US_2015_03_01:390002007 +xref: SNOMEDCT_US_2015_03_01:50325005 +xref: SNOMEDCT_US_2015_03_01:5360002 +xref: UMLS_CUI:C0015695 +xref: UMLS_CUI:C0015696 +is_a: DOID:9455 ! lipid storage disease + +[Term] +id: DOID:9455 +name: lipid storage disease +alt_id: DOID:10583 +def: "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues." [url:http\://en.wikipedia.org/wiki/Lipidoses] +synonym: "inborn lipid storage disorder" EXACT [CSP2005:1849-5707] +synonym: "Lipoid storage diseas" EXACT [MTHICD9_2006:272.7] +synonym: "Lipoidosis" EXACT [SNOMEDCT_2005_07_31:11455007] +synonym: "lipoidosis" EXACT [] +xref: ICD10CM:E75.6 +xref: ICD9CM:272.7 +xref: ICD9CM:272.8 +xref: MSH:D008064 +xref: SNOMEDCT_US_2015_03_01:10741005 +xref: SNOMEDCT_US_2015_03_01:11455007 +xref: SNOMEDCT_US_2015_03_01:154744007 +xref: SNOMEDCT_US_2015_03_01:190792005 +xref: SNOMEDCT_US_2015_03_01:190797004 +xref: SNOMEDCT_US_2015_03_01:190798009 +xref: SNOMEDCT_US_2015_03_01:190805007 +xref: SNOMEDCT_US_2015_03_01:267437005 +xref: SNOMEDCT_US_2015_03_01:267438000 +xref: UMLS_CUI:C0023794 +xref: UMLS_CUI:C0029591 +is_a: DOID:3211 ! lysosomal storage disease + +[Term] +id: DOID:9459 +name: isthmus cancer +xref: ICD9CM:182.1 +xref: UMLS_CUI:C0153575 +is_a: DOID:9460 ! uterine corpus cancer + +[Term] +id: DOID:946 +name: dientamoebiasis +alt_id: DOID:13792 +def: "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue." [url:http\://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm] +synonym: "intestinal trichomoniasis" EXACT [] +xref: MSH:D004030 +xref: UMLS_CUI:C0012147 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:9460 +name: uterine corpus cancer +def: "A uterine cancer that is located_in the uterine corpus." [url:http\://en.wikipedia.org/wiki/Uterine_cancer, url:http\://en.wikipedia.org/wiki/Uterus] +synonym: "corpus uteri cancer" EXACT [] +xref: ICD10CM:C54 +xref: ICD10CM:C54.9 +xref: ICD9CM:182 +xref: NCI:C3556 +xref: SNOMEDCT_US_2015_03_01:154526001 +xref: SNOMEDCT_US_2015_03_01:188194001 +xref: SNOMEDCT_US_2015_03_01:188200009 +xref: SNOMEDCT_US_2015_03_01:269600001 +xref: SNOMEDCT_US_2015_03_01:363442002 +xref: SNOMEDCT_US_2015_03_01:371972005 +xref: SNOMEDCT_US_2015_03_01:93718007 +xref: UMLS_CUI:C0153574 +is_a: DOID:363 ! uterine cancer + +[Term] +id: DOID:9461 +name: exposure keratitis +synonym: "Exposure keratoconjunctivitis" EXACT [ICD9CM_2006:370.34] +synonym: "lagophthalmic keratitis" EXACT [SNOMEDCT_2005_07_31:14366000] +xref: ICD10CM:H16.21 +xref: ICD9CM:370.34 +xref: SNOMEDCT_US_2015_03_01:14366000 +xref: UMLS_CUI:C0339295 +is_a: DOID:9368 ! keratoconjunctivitis + +[Term] +id: DOID:9462 +name: cholesteatoma of external ear +def: "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10993445, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15763298] +synonym: "external canal cholesteatoma" EXACT [] +xref: ICD10CM:H60.4 +xref: ICD10CM:H60.40 +xref: ICD9CM:380.21 +xref: SNOMEDCT_US_2015_03_01:35247001 +xref: UMLS_CUI:C0155398 +is_a: DOID:869 ! cholesteatoma + +[Term] +id: DOID:9463 +name: otitis externa +alt_id: DOID:9785 +def: "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection." [url:http\://en.wikipedia.org/wiki/Otitis_externa] +synonym: "swimmer's ear" EXACT [] +xref: ICD9CM:380.1 +xref: ICD9CM:380.10 +xref: NCI:C3299 +xref: SNOMEDCT_US_2015_03_01:194198006 +xref: SNOMEDCT_US_2015_03_01:194199003 +xref: SNOMEDCT_US_2015_03_01:194214000 +xref: SNOMEDCT_US_2015_03_01:267752002 +xref: SNOMEDCT_US_2015_03_01:3135009 +xref: SNOMEDCT_US_2015_03_01:86981007 +xref: UMLS_CUI:C0021355 +is_a: DOID:379 ! external ear disease + +[Term] +id: DOID:9467 +name: nail-patella syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Fong disease" EXACT [] +synonym: "hereditary onychoostedysplasia" EXACT [] +synonym: "iliac horn syndrome" EXACT [] +synonym: "nail patella syndrome" EXACT [CSP2005:0726-3953] +synonym: "Turner-Kiser syndrome" EXACT [] +xref: ICD10CM:Q87.2 +xref: MSH:D009261 +xref: NCI:C75120 +xref: OMIM:161200 +xref: SNOMEDCT_US_2015_03_01:22199006 +xref: UMLS_CUI:C0027341 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:9468 +name: Salmonella meningitis +subset: gram-negative_bacterial_infectious_disease +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9470 +name: bacterial meningitis +xref: ICD10CM:G00 +xref: ICD10CM:G00.9 +xref: ICD9CM:320 +xref: ICD9CM:320.9 +xref: MSH:D016920 +xref: SNOMEDCT_US_2015_03_01:154984006 +xref: SNOMEDCT_US_2015_03_01:192662001 +xref: SNOMEDCT_US_2015_03_01:267680008 +xref: SNOMEDCT_US_2015_03_01:95883001 +xref: UMLS_CUI:C0085437 +is_a: DOID:9471 ! meningitis + +[Term] +id: DOID:9471 +name: meningitis +alt_id: DOID:9712 +def: "Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents." [url:http\://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162] +subset: GOLD +xref: ICD10CM:G03 +xref: ICD10CM:G03.9 +xref: ICD9CM:322 +xref: ICD9CM:322.9 +xref: MSH:D008581 +xref: NCI:C26828 +xref: SNOMEDCT_US_2015_03_01:154983000 +xref: SNOMEDCT_US_2015_03_01:192678004 +xref: SNOMEDCT_US_2015_03_01:192681009 +xref: SNOMEDCT_US_2015_03_01:7180009 +xref: UMLS_CUI:C0025289 +is_a: DOID:331 ! central nervous system disease + +[Term] +id: DOID:9473 +name: mononeuritis of lower limb +xref: ICD9CM:355 +xref: ICD9CM:355.8 +xref: SNOMEDCT_US_2015_03_01:155075000 +xref: SNOMEDCT_US_2015_03_01:193154003 +xref: SNOMEDCT_US_2015_03_01:62235007 +xref: UMLS_CUI:C0154747 +is_a: DOID:1802 ! mononeuritis + +[Term] +id: DOID:9476 +name: Sheehan syndrome +synonym: "Postpartum Hypopituitarism" EXACT [NCI2004_11_17:C35300] +synonym: "Sheehan's syndrome" EXACT [SNOMEDCT_2005_07_31:154703006] +xref: ICD10CM:E23.0 +xref: MSH:D007018 +xref: NCI:C35300 +xref: SNOMEDCT_US_2015_03_01:15045007 +xref: SNOMEDCT_US_2015_03_01:154703006 +xref: SNOMEDCT_US_2015_03_01:190469009 +xref: SNOMEDCT_US_2015_03_01:237684005 +xref: SNOMEDCT_US_2015_03_01:267482009 +xref: SNOMEDCT_US_2015_03_01:290653008 +xref: SNOMEDCT_US_2015_03_01:32390006 +xref: UMLS_CUI:C0242342 +is_a: DOID:9406 ! hypopituitarism + +[Term] +id: DOID:9477 +name: pulmonary embolism +def: "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot." [url:http\://en.wikipedia.org/wiki/Pulmonary_embolism, url:http\://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html] +comment: PRISM. +synonym: "pulmonary artery embolism" EXACT [MTHICD9_2006:415.1] +synonym: "pulmonary embolus" EXACT [] +xref: ICD10CM:I26 +xref: ICD10CM:I26.99 +xref: MSH:D011655 +xref: NCI:C50713 +xref: SNOMEDCT_US_2015_03_01:155326007 +xref: SNOMEDCT_US_2015_03_01:194882001 +xref: SNOMEDCT_US_2015_03_01:266292008 +xref: SNOMEDCT_US_2015_03_01:59282003 +xref: UMLS_CUI:C0034065 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:9478 +name: postpartum depression +def: "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." [url:http\://en.wikipedia.org/wiki/Mood_disorder] +synonym: "Maternity blues (disorder)" EXACT [SNOMEDCT_2005_07_31:279225001] +synonym: "postnatal depression" EXACT [CSP2005:5003-0032] +xref: ICD10CM:F53 +xref: MSH:D019052 +xref: NCI:C92852 +xref: SNOMEDCT_US_2015_03_01:147016002 +xref: SNOMEDCT_US_2015_03_01:154889000 +xref: SNOMEDCT_US_2015_03_01:191740008 +xref: SNOMEDCT_US_2015_03_01:192475007 +xref: SNOMEDCT_US_2015_03_01:268753005 +xref: SNOMEDCT_US_2015_03_01:58703003 +xref: UMLS_CUI:C0221074 +is_a: DOID:1595 ! endogenous depression + +[Term] +id: DOID:9483 +name: ulcerative blepharitis +xref: ICD10CM:H01.01 +xref: ICD9CM:373.01 +xref: SNOMEDCT_US_2015_03_01:91662004 +xref: UMLS_CUI:C0155173 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:9487 +name: Meckel's diverticulum +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Meckel Diverticulum" EXACT [NCI2004_11_17:C12264] +synonym: "Persistent vitelline duct" EXACT [MTHICD9_2006:751.0] +xref: ICD10CM:Q43.0 +xref: ICD9CM:751.0 +xref: MSH:D008467 +xref: NCI:C12264 +xref: OMIM:155140 +xref: SNOMEDCT_US_2015_03_01:127962001 +xref: SNOMEDCT_US_2015_03_01:156955000 +xref: SNOMEDCT_US_2015_03_01:204685004 +xref: SNOMEDCT_US_2015_03_01:204686003 +xref: SNOMEDCT_US_2015_03_01:204689005 +xref: SNOMEDCT_US_2015_03_01:204690001 +xref: SNOMEDCT_US_2015_03_01:253775007 +xref: SNOMEDCT_US_2015_03_01:264256006 +xref: SNOMEDCT_US_2015_03_01:37373007 +xref: UMLS_CUI:C0025037 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:949 +name: chronic dacryoadenitis +xref: ICD10CM:H04.02 +xref: ICD9CM:375.02 +xref: SNOMEDCT_US_2015_03_01:4760008 +xref: UMLS_CUI:C0155224 +is_a: DOID:950 ! dacryoadenitis + +[Term] +id: DOID:9496 +name: unilateral hypoactive labyrinth +xref: ICD9CM:386.53 +xref: SNOMEDCT_US_2015_03_01:194374008 +xref: SNOMEDCT_US_2015_03_01:81585005 +xref: UMLS_CUI:C0155517 +is_a: DOID:566 ! labyrinthine dysfunction + +[Term] +id: DOID:9498 +name: pulmonary eosinophilia +xref: ICD9CM:518.3 +xref: MSH:D011657 +xref: SNOMEDCT_US_2015_03_01:155623005 +xref: SNOMEDCT_US_2015_03_01:196145005 +xref: SNOMEDCT_US_2015_03_01:196147002 +xref: SNOMEDCT_US_2015_03_01:367542003 +xref: SNOMEDCT_US_2015_03_01:91053000 +xref: UMLS_CUI:C0034068 +is_a: DOID:999 ! eosinophilia + +[Term] +id: DOID:9499 +name: disseminated eosinophilic collagen disease +xref: SNOMEDCT_US_2015_03_01:26328002 +xref: SNOMEDCT_US_2015_03_01:423486005 +xref: UMLS_CUI:C0263662 +is_a: DOID:854 ! collagen disease +is_a: DOID:999 ! eosinophilia + +[Term] +id: DOID:950 +name: dacryoadenitis +xref: ICD10CM:H04.0 +xref: ICD10CM:H04.00 +xref: ICD9CM:375.0 +xref: ICD9CM:375.00 +xref: MSH:D003607 +xref: NCI:C26971 +xref: SNOMEDCT_US_2015_03_01:193971001 +xref: SNOMEDCT_US_2015_03_01:193973003 +xref: SNOMEDCT_US_2015_03_01:86927009 +xref: UMLS_CUI:C0155223 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:9500 +name: leukocyte disease +xref: ICD10CM:D72.9 +xref: ICD9CM:288 +xref: ICD9CM:288.9 +xref: MSH:D007960 +xref: SNOMEDCT_US_2015_03_01:154829002 +xref: SNOMEDCT_US_2015_03_01:191369001 +xref: SNOMEDCT_US_2015_03_01:54097007 +xref: UMLS_CUI:C0023510 +is_a: DOID:74 ! hematopoietic system disease + +[Term] +id: DOID:9502 +name: chronic eosinophilic pneumonia +def: "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease." [url:http\://www.merck.com/mmhe/print/sec04/ch051/ch051c.html, url:http\://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849] +synonym: "Cryptogenic pulmonary eosinophilia (disorder)" EXACT [SNOMEDCT_2005_07_31:233692000] +xref: NCI:C34471 +xref: SNOMEDCT_US_2015_03_01:233692000 +xref: UMLS_CUI:C0008680 +is_a: DOID:5870 ! eosinophilic pneumonia + +[Term] +id: DOID:9503 +name: Loeffler syndrome +def: "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection." [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome] +synonym: "Loeffler's pneumonia " EXACT [] +synonym: "Loffler's syndrome" EXACT [MTHICD9_2006:518.3] +xref: ICD10CM:J82 +xref: MSH:D011657 +xref: NCI:C35301 +xref: SNOMEDCT_US_2015_03_01:123261002 +xref: SNOMEDCT_US_2015_03_01:64936001 +xref: UMLS_CUI:C0242459 +is_a: DOID:5870 ! eosinophilic pneumonia +is_a: DOID:9498 ! pulmonary eosinophilia + +[Term] +id: DOID:9504 +name: benign mammary dysplasia +xref: ICD9CM:610.8 +xref: UMLS_CUI:C0156319 +is_a: DOID:0060082 ! breast benign neoplasm + +[Term] +id: DOID:9505 +name: cannabis abuse +alt_id: DOID:2525 +def: "A substance abuse that involves the recurring use of cannabis despite negative consequences." [url:http\://en.wikipedia.org/wiki/Cannabis_%28drug%29] +synonym: "marijuana abuse" EXACT [CSP2005:0962-7919] +xref: ICD10CM:F12 +xref: ICD10CM:F12.1 +xref: ICD9CM:305.2 +xref: MSH:D002189 +xref: SNOMEDCT_US_2015_03_01:268769003 +xref: SNOMEDCT_US_2015_03_01:37344009 +xref: UMLS_CUI:C0006868 +xref: UMLS_CUI:C0024809 +is_a: DOID:302 ! substance abuse + +[Term] +id: DOID:9506 +name: acute ethmoiditis +def: "A ethmoid sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] +synonym: "acute ethmoid sinusitis" EXACT [] +synonym: "acute ethmoidal sinusitis" EXACT [ICD9CM_2006:461.2] +synonym: "ethmoidal sinus - acute" EXACT [SNOMEDCT_2005_07_31:266378004] +xref: ICD10CM:J01.2 +xref: ICD10CM:J01.20 +xref: ICD9CM:461.2 +xref: SNOMEDCT_US_2015_03_01:155501004 +xref: SNOMEDCT_US_2015_03_01:266378004 +xref: SNOMEDCT_US_2015_03_01:67832005 +xref: UMLS_CUI:C0155806 +is_a: DOID:9507 ! ethmoid sinusitis + +[Term] +id: DOID:9507 +name: ethmoid sinusitis +def: "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] +synonym: "ethmoidal sinusitis" EXACT [NCI2004_11_17:C34597] +synonym: "ethmoiditis" EXACT [] +xref: ICD10CM:J32.2 +xref: MSH:D015521 +xref: NCI:C34597 +xref: SNOMEDCT_US_2015_03_01:18643000 +xref: UMLS_CUI:C0015029 +is_a: DOID:0050127 ! sinusitis + +[Term] +id: DOID:951 +name: toxic myopathy +synonym: "Toxic muscle disease" EXACT [SNOMEDCT_2005_07_31:155097003] +is_obsolete: true + +[Term] +id: DOID:9512 +name: simple chronic conjunctivitis +xref: ICD10CM:H10.42 +xref: ICD9CM:372.11 +xref: SNOMEDCT_US_2015_03_01:193866007 +xref: SNOMEDCT_US_2015_03_01:8211008 +xref: UMLS_CUI:C0155146 +is_a: DOID:2475 ! chronic conjunctivitis + +[Term] +id: DOID:9513 +name: plasmacytic leukemia +xref: ICD10CM:C90.1 +xref: ICD10CM:C90.10 +xref: ICD9CM:203.1 +xref: MSH:D007952 +xref: NCI:C3180 +xref: SNOMEDCT_US_2015_03_01:128922003 +xref: SNOMEDCT_US_2015_03_01:154586003 +xref: SNOMEDCT_US_2015_03_01:188722001 +xref: SNOMEDCT_US_2015_03_01:190038002 +xref: SNOMEDCT_US_2015_03_01:190039005 +xref: SNOMEDCT_US_2015_03_01:269630009 +xref: SNOMEDCT_US_2015_03_01:39193004 +xref: SNOMEDCT_US_2015_03_01:95210003 +xref: UMLS_CUI:C0023484 +is_a: DOID:1037 ! lymphoblastic leukemia + +[Term] +id: DOID:9514 +name: multiple myeloma and immunoproliferative neoplasm +is_obsolete: true + +[Term] +id: DOID:9518 +name: abortion complicated by renal failure +is_obsolete: true + +[Term] +id: DOID:952 +name: acute dacryoadenitis +xref: ICD10CM:H04.01 +xref: ICD9CM:375.01 +xref: SNOMEDCT_US_2015_03_01:2589008 +xref: UMLS_CUI:C0149505 +is_a: DOID:950 ! dacryoadenitis + +[Term] +id: DOID:9521 +name: Laron syndrome +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Laron-type isolated somatotropin defect (disorder)" EXACT [SNOMEDCT_2005_07_31:38196001] +xref: ICD10CM:E34.3 +xref: MSH:D046150 +xref: OMIM:262500 +xref: SNOMEDCT_US_2015_03_01:38196001 +xref: UMLS_CUI:C0271568 +is_a: DOID:0050737 ! autosomal recessive disease + +[Term] +id: DOID:9528 +name: acute renal failure with lesion of renal medullary necrosis +is_obsolete: true + +[Term] +id: DOID:9530 +name: Rhesus isoimmunisation affecting management of mother +is_obsolete: true + +[Term] +id: DOID:9531 +name: latent syphilis +alt_id: DOID:12912 +alt_id: DOID:12913 +alt_id: DOID:9492 +def: "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." [url:http\://en.wikipedia.org/wiki/Syphilis#Latent_syphilis] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD10CM:A53.0 +xref: ICD9CM:097.1 +xref: MSH:D013592 +xref: NCI:C35056 +xref: SNOMEDCT_US_2015_03_01:186906003 +xref: SNOMEDCT_US_2015_03_01:444150000 +xref: UMLS_CUI:C0039133 +is_a: DOID:4166 ! syphilis + +[Term] +id: DOID:9534 +name: tuberculous pneumothorax +def: "A pneumothorax in which air enters into the pleural cavity." [url:http\://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A15.0 +xref: ICD9CM:011.7 +xref: ICD9CM:011.70 +xref: SNOMEDCT_US_2015_03_01:29731002 +xref: UMLS_CUI:C0152600 +is_a: DOID:1673 ! pneumothorax + +[Term] +id: DOID:9535 +name: Arenavirus hemorrhagic fever +alt_id: DOID:4185 +def: "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [url:http\://en.wikipedia.org/wiki/Hemorrhagic_fever, url:http\://jama.ama-assn.org/cgi/reprint/287/18/2391] +synonym: "american hemorrhagic fever" EXACT [] +synonym: "arenaviral hemorrhagic fever" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9537 +name: Lassa fever +def: "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm] +subset: zoonotic_infectious_disease +xref: ICD10CM:A96.2 +xref: MSH:D007835 +xref: SNOMEDCT_US_2015_03_01:19065005 +xref: UMLS_CUI:C0023092 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:9538 +name: multiple myeloma +def: "A myeloma that is located_in the plasma cells in bone marrow." [url:http\://en.wikipedia.org/wiki/Multiple_myeloma, url:http\://www.cancer.gov/dictionary?CdrID=411384] +comment: OMIM mapping confirmed by DO. [SN]. +subset: DO_cancer_slim +synonym: "plasma cell myeloma" EXACT [] +xref: EFO:0001378 +xref: ICD10CM:C90.0 +xref: ICD10CM:C90.00 +xref: ICD9CM:203.0 +xref: MSH:D009101 +xref: NCI:C3242 +xref: OMIM:254500 +xref: SNOMEDCT_US_2015_03_01:109989006 +xref: SNOMEDCT_US_2015_03_01:154585004 +xref: SNOMEDCT_US_2015_03_01:55921005 +xref: SNOMEDCT_US_2015_03_01:94705007 +xref: UMLS_CUI:C0026764 +is_a: DOID:0070004 ! myeloma + +[Term] +id: DOID:9540 +name: vascular skin disease +xref: ICD9CM:709.1 +xref: MSH:D017445 +xref: NCI:C35254 +xref: SNOMEDCT_US_2015_03_01:11263005 +xref: SNOMEDCT_US_2015_03_01:201306008 +xref: SNOMEDCT_US_2015_03_01:267820009 +xref: UMLS_CUI:C0162819 +is_a: DOID:37 ! skin disease + +[Term] +id: DOID:9541 +name: osteosclerotic myeloma +xref: NCI:C7765 +xref: SNOMEDCT_US_2015_03_01:42215000 +xref: SNOMEDCT_US_2015_03_01:425657001 +xref: UMLS_CUI:C1510415 +is_a: DOID:9538 ! multiple myeloma + +[Term] +id: DOID:9543 +name: plasma cell myeloma PTLD +is_obsolete: true + +[Term] +id: DOID:9544 +name: refractory plasma cell neoplasm +xref: NCI:C7024 +xref: NCI:C7813 +xref: UMLS_CUI:C0278620 +is_a: DOID:712 ! refractory hematologic cancer +is_a: DOID:9538 ! multiple myeloma + +[Term] +id: DOID:9545 +name: recurrent plasma cell neoplasm +is_obsolete: true + +[Term] +id: DOID:9547 +name: non-secretory myeloma +xref: NCI:C4734 +xref: SNOMEDCT_US_2015_03_01:277580004 +xref: UMLS_CUI:C0456845 +is_a: DOID:9538 ! multiple myeloma + +[Term] +id: DOID:955 +name: benign neurilemmoma +xref: UMLS_CUI:C0854906 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:9550 +name: indolent myeloma +xref: NCI:C7150 +xref: UMLS_CUI:C1334169 +is_a: DOID:9538 ! multiple myeloma + +[Term] +id: DOID:9551 +name: smoldering myeloma +def: "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody." [url:http\://www.cancer.gov/dictionary/?CdrID=413932] +is_a: DOID:9538 ! multiple myeloma + +[Term] +id: DOID:9552 +name: adrenal gland hypofunction +is_obsolete: true + +[Term] +id: DOID:9553 +name: adrenal gland disease +def: "An endocrine system disease that is located_in the adrenal gland." [url:http\://en.wikipedia.org/wiki/Adrenal_gland_disease] +xref: ICD10CM:E27.9 +xref: ICD9CM:255 +xref: ICD9CM:255.9 +xref: MSH:D000307 +xref: NCI:C26690 +xref: SNOMEDCT_US_2015_03_01:154704000 +xref: SNOMEDCT_US_2015_03_01:190532009 +xref: SNOMEDCT_US_2015_03_01:30171000 +xref: UMLS_CUI:C0001621 +is_a: DOID:28 ! endocrine system disease + +[Term] +id: DOID:956 +name: peripheral nerve schwannoma +xref: NCI:C41430 +xref: UMLS_CUI:C1519001 +is_a: DOID:3192 ! neurilemmoma + +[Term] +id: DOID:9561 +name: nasopharyngeal disease +synonym: "disorder of nasopharynx (disorder)" EXACT [SNOMEDCT_2005_07_31:123952009] +xref: MSH:D009302 +xref: NCI:C35723 +xref: SNOMEDCT_US_2015_03_01:123952009 +xref: UMLS_CUI:C0027438 +is_a: DOID:974 ! upper respiratory tract disease + +[Term] +id: DOID:9562 +name: primary ciliary dyskinesia +alt_id: DOID:2925 +def: "A ciliopathy that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube." [url:http\://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "ciliary motility disorder" EXACT [] +synonym: "immotile ciliary syndrome" EXACT [] +xref: MSH:D002925 +xref: NCI:C84638 +xref: OMIM:244400 +xref: OMIM:606763 +xref: OMIM:608644 +xref: OMIM:608646 +xref: OMIM:608647 +xref: OMIM:610852 +xref: OMIM:611884 +xref: OMIM:612274 +xref: OMIM:612444 +xref: OMIM:612518 +xref: OMIM:612649 +xref: OMIM:612650 +xref: OMIM:613193 +xref: OMIM:613807 +xref: OMIM:613808 +xref: OMIM:614017 +xref: OMIM:614679 +xref: OMIM:614874 +xref: OMIM:614935 +xref: OMIM:615067 +xref: OMIM:615294 +xref: OMIM:615444 +xref: OMIM:615451 +xref: OMIM:615481 +xref: OMIM:615482 +xref: OMIM:615500 +xref: OMIM:615504 +xref: OMIM:615505 +xref: OMIM:615872 +xref: OMIM:616037 +xref: OMIM:616369 +xref: OMIM:616481 +xref: SNOMEDCT_US_2015_03_01:86204009 +xref: SNOMEDCT_US_2015_03_01:9057007 +xref: UMLS_CUI:C0008780 +is_a: DOID:0060340 ! ciliopathy + +[Term] +id: DOID:9563 +name: bronchiectasis +alt_id: DOID:11046 +alt_id: DOID:11047 +alt_id: DOID:9571 +def: "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances." [url:http\://www.merck.com/mmhe/sec04/ch047/ch047a.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Polynesian bronchiectasis" EXACT [] +xref: ICD10CM:J47 +xref: ICD10CM:J47.9 +xref: ICD9CM:494 +xref: MSH:D001987 +xref: NCI:C84475 +xref: OMIM:211400 +xref: OMIM:613021 +xref: OMIM:613071 +xref: ORDO:60033 +xref: SNOMEDCT_US_2015_03_01:12295008 +xref: SNOMEDCT_US_2015_03_01:155580000 +xref: SNOMEDCT_US_2015_03_01:195986009 +xref: UMLS_CUI:C0006267 +is_a: DOID:1176 ! bronchial disease + +[Term] +id: DOID:9565 +name: dextrocardia +synonym: "Heart predominantly in right hemithorax" EXACT [SNOMEDCT_2005_07_31:156925007] +xref: ICD10CM:Q24.0 +xref: MSH:D003914 +xref: NCI:C84669 +xref: SNOMEDCT_US_2015_03_01:156925007 +xref: SNOMEDCT_US_2015_03_01:27637000 +xref: UMLS_CUI:C0011813 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:9574 +name: choanal atresia +alt_id: DOID:14713 +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Atresia of nares" EXACT [MTHICD9_2006:748.0] +synonym: "Imperforate nares" EXACT [SNOMEDCT_2005_07_31:53458004] +synonym: "posterior choanal atresia" EXACT [] +xref: ICD10CM:Q30.0 +xref: ICD9CM:748.0 +xref: MSH:C562435 +xref: MSH:D002754 +xref: OMIM:608911 +xref: SNOMEDCT_US_2015_03_01:14988006 +xref: SNOMEDCT_US_2015_03_01:156934002 +xref: SNOMEDCT_US_2015_03_01:204508009 +xref: SNOMEDCT_US_2015_03_01:204509001 +xref: SNOMEDCT_US_2015_03_01:204514002 +xref: SNOMEDCT_US_2015_03_01:53458004 +xref: UMLS_CUI:C0008297 +xref: UMLS_CUI:C0220723 +is_a: DOID:2163 ! nasal cavity disease + +[Term] +id: DOID:9577 +name: neonatal candidiasis +def: "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates." [url:http\://emedicine.medscape.com/article/1090632-overview, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] +synonym: "Neonatal Candida infection" EXACT [ICD9CM_2006:771.7] +synonym: "Neonatal candida infection" EXACT [SNOMEDCT_2005_07_31:157121009] +synonym: "Neonatal monilia infection (disorder)" EXACT [SNOMEDCT_2005_07_31:3973009] +synonym: "neonatal moniliasis" EXACT [] +xref: ICD10CM:P37.5 +xref: ICD9CM:771.7 +xref: SNOMEDCT_US_2015_03_01:157121009 +xref: SNOMEDCT_US_2015_03_01:206362009 +xref: SNOMEDCT_US_2015_03_01:3973009 +xref: SNOMEDCT_US_2015_03_01:414821002 +xref: UMLS_CUI:C0276682 +is_a: DOID:1508 ! candidiasis + +[Term] +id: DOID:9579 +name: Pseudomonas septicemia +subset: GOLD +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9584 +name: Venezuelan equine encephalitis +def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] +subset: zoonotic_infectious_disease +synonym: "Venezuelan equine fever" RELATED [ICD9CM_2006:066.2] +xref: ICD10CM:A92.2 +xref: ICD9CM:066.2 +xref: MSH:D004685 +xref: NCI:C35121 +xref: SNOMEDCT_US_2015_03_01:417067005 +xref: SNOMEDCT_US_2015_03_01:417702007 +xref: SNOMEDCT_US_2015_03_01:89990001 +xref: UMLS_CUI:C0014078 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:9585 +name: equine encephalitis +def: "An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise." [url:http\://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html] +subset: zoonotic_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9588 +name: encephalitis +alt_id: DOID:2160 +def: "Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures." [url:http\://en.wikipedia.org/wiki/Encephalitis, url:http\://www.nlm.nih.gov/medlineplus/encephalitis.html] +xref: MSH:D004660 +xref: NCI:C26760 +xref: SNOMEDCT_US_2015_03_01:192736002 +xref: SNOMEDCT_US_2015_03_01:267578009 +xref: SNOMEDCT_US_2015_03_01:267682000 +xref: SNOMEDCT_US_2015_03_01:45170000 +xref: UMLS_CUI:C0014038 +is_a: DOID:936 ! brain disease + +[Term] +id: DOID:9589 +name: urethral calculus +synonym: "urethral Stone" EXACT [NCI2004_11_17:C26995] +xref: ICD10CM:N21.1 +xref: ICD9CM:594.2 +xref: NCI:C26995 +xref: SNOMEDCT_US_2015_03_01:155880008 +xref: SNOMEDCT_US_2015_03_01:20342001 +xref: UMLS_CUI:C0162301 +is_a: DOID:9590 ! lower urinary tract calculus + +[Term] +id: DOID:959 +name: esophagus squamous cell papilloma +xref: NCI:C5344 +xref: UMLS_CUI:C1333467 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:9590 +name: lower urinary tract calculus +def: "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone." [url:http\://en.wikipedia.org/wiki/Calculus_%28medicine%29] +xref: ICD10CM:N21 +xref: ICD10CM:N21.9 +xref: ICD9CM:594 +xref: ICD9CM:594.9 +xref: SNOMEDCT_US_2015_03_01:155878002 +xref: SNOMEDCT_US_2015_03_01:155881007 +xref: SNOMEDCT_US_2015_03_01:197828005 +xref: SNOMEDCT_US_2015_03_01:197832004 +xref: SNOMEDCT_US_2015_03_01:79509009 +xref: UMLS_CUI:C0156264 +is_a: DOID:18 ! urinary system disease + +[Term] +id: DOID:9594 +name: ovarian metastasis +synonym: "metastasis to ovary" EXACT [SNOMEDCT_2005_07_31:154573007] +is_obsolete: true + +[Term] +id: DOID:9597 +name: Krukenberg carcinoma +synonym: "Krukenberg neoplasm" EXACT [NCI2004_11_17:C3153] +synonym: "Krukenberg tumor" RELATED [] +xref: MSH:D007725 +xref: NCI:C3153 +xref: SNOMEDCT_US_2015_03_01:359987004 +xref: SNOMEDCT_US_2015_03_01:4305004 +xref: SNOMEDCT_US_2015_03_01:94455000 +xref: UMLS_CUI:C0022790 +is_a: DOID:2152 ! ovary epithelial cancer + +[Term] +id: DOID:9598 +name: fasciitis +xref: ICD10CM:M72.9 +xref: ICD9CM:729.4 +xref: MSH:D005208 +xref: NCI:C50559 +xref: SNOMEDCT_US_2015_03_01:203123000 +xref: SNOMEDCT_US_2015_03_01:36948007 +xref: UMLS_CUI:C0015645 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:9599 +name: proliferative fasciitis +xref: NCI:C4728 +xref: SNOMEDCT_US_2015_03_01:254737002 +xref: SNOMEDCT_US_2015_03_01:35548007 +xref: UMLS_CUI:C0432528 +is_a: DOID:9598 ! fasciitis + +[Term] +id: DOID:96 +name: staphyloenterotoxemia +def: "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." [url:http\://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070015.htm, url:http\://www.in.gov/isdh/22420.htm] +subset: GOLD +subset: gram-positive_bacterial_infectious_disease +synonym: "Staphylococcal food poisoning" EXACT [ICD9CM_2006:005.0] +synonym: "Staphylococcal toxaemia due to food" EXACT [SNOMEDCT_2005_07_31:84622004] +synonym: "staphyloenterotoxicosis" EXACT [] +xref: ICD10CM:A05.0 +xref: ICD9CM:005.0 +xref: MSH:D013202 +xref: NCI:C35037 +xref: SNOMEDCT_US_2015_03_01:84622004 +xref: UMLS_CUI:C0038159 +is_a: DOID:0050338 ! primary bacterial infectious disease + +[Term] +id: DOID:960 +name: esophagus leiomyoma +xref: NCI:C3866 +xref: SNOMEDCT_US_2015_03_01:276805005 +xref: UMLS_CUI:C0238114 +is_a: DOID:0050624 ! gastrointestinal system benign neoplasm + +[Term] +id: DOID:9600 +name: plantar fasciitis +xref: ICD10CM:M72.2 +xref: MSH:D036981 +xref: SNOMEDCT_US_2015_03_01:156725003 +xref: SNOMEDCT_US_2015_03_01:202882003 +xref: SNOMEDCT_US_2015_03_01:203056001 +xref: SNOMEDCT_US_2015_03_01:2482001 +xref: UMLS_CUI:C0149756 +is_a: DOID:9598 ! fasciitis + +[Term] +id: DOID:9601 +name: ischemic fasciitis +synonym: "Atypical Decubital Fibroplasia" EXACT [NCI2004_11_17:C6483] +xref: NCI:C6483 +xref: SNOMEDCT_US_2015_03_01:403990005 +xref: UMLS_CUI:C1304514 +is_a: DOID:9598 ! fasciitis + +[Term] +id: DOID:9602 +name: necrotizing fasciitis +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:M72.6 +xref: ICD9CM:728.86 +xref: MSH:D019115 +xref: NCI:C84916 +xref: SNOMEDCT_US_2015_03_01:186428007 +xref: SNOMEDCT_US_2015_03_01:52486002 +xref: UMLS_CUI:C0238124 +is_a: DOID:9598 ! fasciitis + +[Term] +id: DOID:9603 +name: intravascular fasciitis +synonym: "Intravascular Pseudosarcomatous Fasciitis" EXACT [NCI2004_11_17:C4729] +xref: NCI:C4729 +xref: SNOMEDCT_US_2015_03_01:254738007 +xref: UMLS_CUI:C0432529 +is_a: DOID:7327 ! pseudosarcomatous fibromatosis + +[Term] +id: DOID:961 +name: neurofibroma of the esophagus +xref: NCI:C5704 +xref: UMLS_CUI:C1333463 +is_a: DOID:962 ! neurofibroma + +[Term] +id: DOID:9617 +name: orthostatic proteinuria +synonym: "Postural albuminuria" EXACT [SNOMEDCT_2005_07_31:77872002] +xref: ICD10CM:R80.2 +xref: ICD9CM:593.6 +xref: SNOMEDCT_US_2015_03_01:155874000 +xref: SNOMEDCT_US_2015_03_01:32482005 +xref: SNOMEDCT_US_2015_03_01:77872002 +xref: SNOMEDCT_US_2015_03_01:78719009 +xref: UMLS_CUI:C0232867 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:962 +name: neurofibroma +xref: MSH:D009455 +xref: NCI:C3272 +xref: SNOMEDCT_US_2015_03_01:115242003 +xref: SNOMEDCT_US_2015_03_01:134214003 +xref: SNOMEDCT_US_2015_03_01:189947001 +xref: SNOMEDCT_US_2015_03_01:404029005 +xref: SNOMEDCT_US_2015_03_01:89084002 +xref: UMLS_CUI:C0027830 +is_a: DOID:3193 ! peripheral nerve sheath neoplasm + +[Term] +id: DOID:9620 +name: vesicoureteral reflux +def: "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." [url:http\://en.wikipedia.org/wiki/Vesicoureteral_reflux, url:http\://ghr.nlm.nih.gov/glossary=vesicoureteralreflux, url:http\://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. +subset: DO_MGI_slim +synonym: "vesico-ureteral reflux" EXACT [] +xref: ICD10CM:N13.7 +xref: ICD10CM:N13.70 +xref: ICD9CM:593.7 +xref: MSH:D014718 +xref: NCI:C84467 +xref: OMIM:193000 +xref: OMIM:314550 +xref: OMIM:610878 +xref: OMIM:613674 +xref: OMIM:614317 +xref: OMIM:614318 +xref: OMIM:614319 +xref: OMIM:614674 +xref: OMIM:615390 +xref: OMIM:615963 +xref: ORDO:289365 +xref: SNOMEDCT_US_2015_03_01:155875004 +xref: SNOMEDCT_US_2015_03_01:197811007 +xref: SNOMEDCT_US_2015_03_01:251994004 +xref: SNOMEDCT_US_2015_03_01:26836002 +xref: UMLS_CUI:C0042580 +is_a: DOID:1426 ! ureteral disease + +[Term] +id: DOID:9621 +name: non-congenital cyst of kidney +xref: ICD10CM:N28.1 +xref: ICD9CM:593.2 +xref: SNOMEDCT_US_2015_03_01:105999006 +xref: SNOMEDCT_US_2015_03_01:155872001 +xref: SNOMEDCT_US_2015_03_01:197803002 +xref: SNOMEDCT_US_2015_03_01:266625006 +xref: UMLS_CUI:C0268799 +is_a: DOID:2975 ! cystic kidney + +[Term] +id: DOID:9622 +name: kidney hypertrophy +xref: ICD10CM:N28.81 +xref: ICD9CM:593.1 +xref: SNOMEDCT_US_2015_03_01:197800004 +xref: SNOMEDCT_US_2015_03_01:88531004 +xref: UMLS_CUI:C0156259 +is_a: DOID:557 ! kidney disease + +[Term] +id: DOID:963 +name: episodic ataxia +def: "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement." [url:http\://en.wikipedia.org/wiki/Episodic_ataxia, url:http\://ghr.nlm.nih.gov/condition/episodic-ataxia] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nUpdated outdated UMLS CUI. +subset: DO_MGI_slim +synonym: "Isaacs syndrome" EXACT [] +xref: MSH:C580065 +xref: ORDO:211062 +xref: SNOMEDCT_US_2015_03_01:421455009 +xref: UMLS_CUI:C1720189 +is_a: DOID:0050951 ! hereditary ataxia + +[Term] +id: DOID:9630 +name: genetic anomaly of leucocyte +is_obsolete: true + +[Term] +id: DOID:9631 +name: Pelger-Huet anomaly +comment: OMIM mapping confirmed by DO. [SN]. +xref: MSH:D010381 +xref: NCI:C85002 +xref: OMIM:169400 +xref: SNOMEDCT_US_2015_03_01:191356000 +xref: SNOMEDCT_US_2015_03_01:85559002 +xref: UMLS_CUI:C0030779 +is_a: DOID:0050736 ! autosomal dominant disease + +[Term] +id: DOID:9637 +name: stomatitis +xref: ICD10CM:K12.1 +xref: MSH:D013280 +xref: NCI:C26887 +xref: SNOMEDCT_US_2015_03_01:155660009 +xref: SNOMEDCT_US_2015_03_01:196527002 +xref: SNOMEDCT_US_2015_03_01:61170000 +xref: SNOMEDCT_US_2015_03_01:95361005 +xref: UMLS_CUI:C0038362 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:9640 +name: sarcocystosis +def: "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf, url:http\://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm] +synonym: "Sarcosporidiosis" EXACT [ICD9CM_2006:136.5] +xref: ICD10CM:A07.8 +xref: ICD9CM:136.5 +xref: MSH:D012523 +xref: SNOMEDCT_US_2015_03_01:88905005 +xref: UMLS_CUI:C0036231 +is_a: DOID:2113 ! coccidiosis + +[Term] +id: DOID:9642 +name: rheumatic chorea +alt_id: DOID:9641 +alt_id: DOID:9813 +subset: gram-positive_bacterial_infectious_disease +synonym: "chorea minor" EXACT [CSP2005:2057-3299] +synonym: "Sydenham's chorea" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9643 +name: babesiosis +def: "A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." [url:http\://en.wikipedia.org/wiki/Babesiosis] +subset: tick-borne_infectious_disease +subset: zoonotic_infectious_disease +synonym: "Babesiasis" EXACT [MTHICD9_2006:088.82] +synonym: "Infection by babesia" EXACT [SNOMEDCT_2005_07_31:276204002] +synonym: "piroplasmosis" EXACT [CSP2005:2214-4957] +xref: ICD10CM:B60.0 +xref: ICD9CM:088.82 +xref: MSH:D001404 +xref: NCI:C84581 +xref: SNOMEDCT_US_2015_03_01:187241002 +xref: SNOMEDCT_US_2015_03_01:21061004 +xref: SNOMEDCT_US_2015_03_01:276204002 +xref: UMLS_CUI:C0004576 +is_a: DOID:2789 ! parasitic protozoa infectious disease + +[Term] +id: DOID:9647 +name: obstructed labor +alt_id: DOID:1298 +alt_id: DOID:1299 +alt_id: DOID:1300 +is_obsolete: true + +[Term] +id: DOID:9649 +name: congenital nystagmus +def: "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." [url:http\://en.wikipedia.org/wiki/Nystagmus, url:http\://ghr.nlm.nih.gov/glossary=nystagmus, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669] +comment: Xref MGI. +subset: DO_MGI_slim +xref: ICD10CM:H55.01 +xref: ICD9CM:379.51 +xref: MSH:D020417 +xref: OMIM:164100 +xref: OMIM:193003 +xref: OMIM:300589 +xref: OMIM:300814 +xref: OMIM:608345 +xref: OMIM:610700 +xref: OMIM:614826 +xref: ORDO:651 +xref: SNOMEDCT_US_2015_03_01:155205009 +xref: SNOMEDCT_US_2015_03_01:194173005 +xref: SNOMEDCT_US_2015_03_01:267750005 +xref: SNOMEDCT_US_2015_03_01:64635004 +xref: UMLS_CUI:C0700501 +is_a: DOID:9650 ! pathologic nystagmus + +[Term] +id: DOID:9650 +name: pathologic nystagmus +xref: ICD10CM:H55.0 +xref: ICD10CM:H55.00 +xref: ICD9CM:379.50 +xref: MSH:D009759 +xref: NCI:C3282 +xref: SNOMEDCT_US_2015_03_01:155205009 +xref: SNOMEDCT_US_2015_03_01:194171007 +xref: SNOMEDCT_US_2015_03_01:194172000 +xref: SNOMEDCT_US_2015_03_01:267750005 +xref: SNOMEDCT_US_2015_03_01:563001 +xref: UMLS_CUI:C0028738 +is_a: DOID:1279 ! ocular motility disease + +[Term] +id: DOID:9651 +name: systolic heart failure +xref: ICD10CM:I50.20 +xref: ICD9CM:428.2 +xref: ICD9CM:428.20 +xref: MSH:D054143 +xref: SNOMEDCT_US_2015_03_01:417996009 +xref: UMLS_CUI:C1135191 +is_a: DOID:6000 ! congestive heart failure + +[Term] +id: DOID:9653 +name: Pre-eclampsia or eclampsia superimposed on pre-existing hypertension +alt_id: DOID:10855 +alt_id: DOID:14078 +alt_id: DOID:9652 +is_obsolete: true + +[Term] +id: DOID:9654 +name: hypertension complicating pregnancy, childbirth and the puerperium +alt_id: DOID:13703 +alt_id: DOID:9844 +alt_id: DOID:9845 +is_obsolete: true + +[Term] +id: DOID:9655 +name: oral mucosa leukoplakia +xref: ICD10CM:K13.2 +xref: ICD10CM:K13.21 +xref: ICD9CM:528.6 +xref: UMLS_CUI:C1112530 +is_a: DOID:403 ! mouth disease + +[Term] +id: DOID:9663 +name: aphthous stomatitis +def: "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers." [url:http\://en.wikipedia.org/wiki/Aphthous_stomatitis] +synonym: "Aphtha (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:110426005] +synonym: "Aphthous ulceration (disorder)" EXACT [SNOMEDCT_2005_07_31:321258009] +synonym: "Canker sore" EXACT [MTHICD9_2006:528.2] +synonym: "Oral aphthae" EXACT [ICD9CM_2006:528.2] +synonym: "Oral aphthous ulcer" RELATED [SNOMEDCT_2005_07_31:155661008] +synonym: "oral ulcer" EXACT [] +xref: ICD9CM:528.2 +xref: MSH:D013281 +xref: NCI:C62546 +xref: SNOMEDCT_US_2015_03_01:110426005 +xref: SNOMEDCT_US_2015_03_01:155661008 +xref: SNOMEDCT_US_2015_03_01:196529004 +xref: SNOMEDCT_US_2015_03_01:196534000 +xref: SNOMEDCT_US_2015_03_01:196536003 +xref: SNOMEDCT_US_2015_03_01:303117009 +xref: SNOMEDCT_US_2015_03_01:321258009 +xref: SNOMEDCT_US_2015_03_01:322224003 +xref: SNOMEDCT_US_2015_03_01:367526005 +xref: SNOMEDCT_US_2015_03_01:398870000 +xref: SNOMEDCT_US_2015_03_01:426965005 +xref: SNOMEDCT_US_2015_03_01:83312008 +xref: UMLS_CUI:C0038363 +is_a: DOID:9637 ! stomatitis + +[Term] +id: DOID:9667 +name: placental abruption +alt_id: DOID:12976 +alt_id: DOID:12977 +alt_id: DOID:13233 +alt_id: DOID:13234 +alt_id: DOID:13587 +alt_id: DOID:13627 +alt_id: DOID:14406 +alt_id: DOID:9666 +def: "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother." [url:http\://en.wikipedia.org/wiki/Abruptio_placentae] +comment: PRISM. +synonym: "abruptio placenta" EXACT [] +synonym: "abruptio placentae" EXACT [CSP2005:2403-9411] +xref: ICD10CM:O20.0 +xref: ICD9CM:640.0 +xref: ICD9CM:640.03 +xref: MSH:D000033 +xref: NCI:C112857 +xref: SNOMEDCT_US_2015_03_01:156098004 +xref: SNOMEDCT_US_2015_03_01:198882006 +xref: SNOMEDCT_US_2015_03_01:198885008 +xref: SNOMEDCT_US_2015_03_01:22689002 +xref: SNOMEDCT_US_2015_03_01:54048003 +xref: UMLS_CUI:C0000821 +is_a: DOID:780 ! placenta disease + +[Term] +id: DOID:9669 +name: senile cataract +xref: ICD10CM:H25 +xref: ICD9CM:366.1 +xref: ICD9CM:366.10 +xref: NCI:C35012 +xref: SNOMEDCT_US_2015_03_01:155127007 +xref: SNOMEDCT_US_2015_03_01:193582000 +xref: SNOMEDCT_US_2015_03_01:193583005 +xref: SNOMEDCT_US_2015_03_01:193594009 +xref: SNOMEDCT_US_2015_03_01:39450006 +xref: UMLS_CUI:C0036646 +is_a: DOID:83 ! cataract + +[Term] +id: DOID:9672 +name: noma +synonym: "Cancrum oris" EXACT [ICD9CM_2006:528.1] +synonym: "Gangrenous stomatitis" EXACT [MTHICD9_2006:528.1] +xref: ICD10CM:A69.0 +xref: ICD9CM:528.1 +xref: MSH:D009625 +xref: NCI:C34852 +xref: SNOMEDCT_US_2015_03_01:18116006 +xref: SNOMEDCT_US_2015_03_01:196528007 +xref: SNOMEDCT_US_2015_03_01:266427007 +xref: SNOMEDCT_US_2015_03_01:399050001 +xref: UMLS_CUI:C0028271 +is_a: DOID:9673 ! ulcerative stomatitis + +[Term] +id: DOID:9673 +name: ulcerative stomatitis +xref: ICD10CM:K12.1 +xref: MSH:D005892 +xref: NCI:C35039 +xref: SNOMEDCT_US_2015_03_01:450005 +xref: UMLS_CUI:C0038367 +is_a: DOID:9637 ! stomatitis + +[Term] +id: DOID:9675 +name: pulmonary emphysema +xref: ICD10CM:J43.8 +xref: ICD9CM:492.8 +xref: SNOMEDCT_US_2015_03_01:195962007 +xref: SNOMEDCT_US_2015_03_01:195965009 +xref: SNOMEDCT_US_2015_03_01:196230005 +xref: SNOMEDCT_US_2015_03_01:266357002 +xref: UMLS_CUI:C0029607 +is_a: DOID:3083 ! chronic obstructive pulmonary disease + +[Term] +id: DOID:9678 +name: cervical incompetence complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:9681 +name: cervical incompetence +def: "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." [url:http\://en.wikipedia.org/wiki/Cervical_incompetence] +xref: ICD10CM:N88.3 +xref: ICD9CM:622.5 +xref: MSH:D002581 +xref: NCI:C50607 +xref: SNOMEDCT_US_2015_03_01:156172008 +xref: SNOMEDCT_US_2015_03_01:157049000 +xref: SNOMEDCT_US_2015_03_01:17382005 +xref: SNOMEDCT_US_2015_03_01:199480002 +xref: SNOMEDCT_US_2015_03_01:199481003 +xref: SNOMEDCT_US_2015_03_01:199486008 +xref: SNOMEDCT_US_2015_03_01:36836005 +xref: UMLS_CUI:C0007871 +is_a: DOID:2253 ! cervix disease + +[Term] +id: DOID:9682 +name: yellow fever +alt_id: DOID:9683 +alt_id: DOID:9684 +def: "A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood." [url:http\://en.wikipedia.org/wiki/Yellow_fever, url:http\://www.cdc.gov/ncidod/dvbid/yellowfever/YF_FactSheet.html, url:http\://www.who.int/mediacentre/factsheets/fs100/en/index.html] +subset: zoonotic_infectious_disease +synonym: "jungle yellow fever" EXACT [] +synonym: "Sylvatic yellow fever" EXACT [ICD9CM_2006:060.0] +synonym: "urban yellow fever" EXACT [] +synonym: "Yellow fever, sylvan" EXACT [MTHICD9_2006:060.0] +xref: ICD10CM:A95 +xref: ICD10CM:A95.9 +xref: ICD9CM:060 +xref: ICD9CM:060.9 +xref: MSH:D015004 +xref: NCI:C35547 +xref: SNOMEDCT_US_2015_03_01:154345006 +xref: SNOMEDCT_US_2015_03_01:16541001 +xref: SNOMEDCT_US_2015_03_01:186587002 +xref: SNOMEDCT_US_2015_03_01:187411002 +xref: SNOMEDCT_US_2015_03_01:266194002 +xref: UMLS_CUI:C0043395 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:9694 +name: toxic myocarditis +xref: ICD9CM:422.93 +xref: SNOMEDCT_US_2015_03_01:31993003 +xref: UMLS_CUI:C0155691 +is_a: DOID:3951 ! acute myocarditis + +[Term] +id: DOID:9697 +name: gonococcal keratitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD10CM:A54.33 +xref: ICD9CM:098.43 +xref: SNOMEDCT_US_2015_03_01:186924001 +xref: SNOMEDCT_US_2015_03_01:40149008 +xref: UMLS_CUI:C0153214 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:9698 +name: gonococcal endophthalmia +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD10CM:A54.39 +xref: ICD9CM:098.42 +xref: SNOMEDCT_US_2015_03_01:111807001 +xref: SNOMEDCT_US_2015_03_01:186923007 +xref: UMLS_CUI:C0153213 +is_a: DOID:4692 ! endophthalmitis + +[Term] +id: DOID:9699 +name: ophthalmia neonatorum +alt_id: DOID:10601 +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "Gonococcal conjunctivitis (neonatorum)" EXACT [ICD9CM_2006:098.40] +synonym: "Gonococcal ophthalmia neonatorum" EXACT [MTHICD9_2006:098.40] +synonym: "Neonatal conjunctivitis" EXACT [SNOMEDCT_2005_07_31:157120005] +xref: ICD10CM:P39.1 +xref: ICD9CM:098.40 +xref: ICD9CM:771.6 +xref: MSH:D009878 +xref: SNOMEDCT_US_2015_03_01:157120005 +xref: SNOMEDCT_US_2015_03_01:206345004 +xref: SNOMEDCT_US_2015_03_01:206354001 +xref: SNOMEDCT_US_2015_03_01:28438004 +xref: SNOMEDCT_US_2015_03_01:34298002 +xref: SNOMEDCT_US_2015_03_01:80881003 +xref: UMLS_CUI:C0027611 +xref: UMLS_CUI:C0029076 +is_a: DOID:9700 ! bacterial conjunctivitis + +[Term] +id: DOID:970 +name: tenosynovitis +synonym: "Inflammation of tendon sheath" EXACT [SNOMEDCT_2005_07_31:240035004] +xref: MSH:D013717 +xref: SNOMEDCT_US_2015_03_01:156666009 +xref: SNOMEDCT_US_2015_03_01:240035004 +xref: SNOMEDCT_US_2015_03_01:268092005 +xref: SNOMEDCT_US_2015_03_01:67801009 +xref: UMLS_CUI:C0039520 +is_a: DOID:381 ! arthropathy +is_a: DOID:971 ! tendinitis + +[Term] +id: DOID:9700 +name: bacterial conjunctivitis +synonym: "Purulent conjunctivitis (disorder)" EXACT [SNOMEDCT_2005_07_31:243321006] +xref: ICD10CM:H10.0 +xref: MSH:D003234 +xref: NCI:C53656 +xref: SNOMEDCT_US_2015_03_01:128350005 +xref: SNOMEDCT_US_2015_03_01:17482009 +xref: SNOMEDCT_US_2015_03_01:193877001 +xref: SNOMEDCT_US_2015_03_01:243321006 +xref: SNOMEDCT_US_2015_03_01:243462001 +xref: UMLS_CUI:C0009768 +is_a: DOID:6195 ! conjunctivitis + +[Term] +id: DOID:9709 +name: rosacea conjunctivitis +xref: ICD9CM:372.31 +xref: SNOMEDCT_US_2015_03_01:10128002 +xref: UMLS_CUI:C0155152 +is_a: DOID:6195 ! conjunctivitis + +[Term] +id: DOID:971 +name: tendinitis +xref: ICD10CM:M77.9 +xref: MSH:D052256 +xref: NCI:C97141 +xref: SNOMEDCT_US_2015_03_01:156665008 +xref: SNOMEDCT_US_2015_03_01:202893001 +xref: SNOMEDCT_US_2015_03_01:267996008 +xref: SNOMEDCT_US_2015_03_01:268091003 +xref: SNOMEDCT_US_2015_03_01:312785002 +xref: SNOMEDCT_US_2015_03_01:34840004 +xref: UMLS_CUI:C0039503 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:9714 +name: occlusion of gallbladder +synonym: "Obstruction of gallbladder" EXACT [ICD9CM_2006:575.2] +xref: ICD10CM:K82.0 +xref: ICD9CM:575.2 +xref: NCI:C78308 +xref: SNOMEDCT_US_2015_03_01:197415009 +xref: SNOMEDCT_US_2015_03_01:197416005 +xref: SNOMEDCT_US_2015_03_01:197420009 +xref: SNOMEDCT_US_2015_03_01:75726005 +xref: UMLS_CUI:C0156214 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:9717 +name: hydrops of gallbladder +xref: ICD10CM:K82.1 +xref: ICD9CM:575.3 +xref: SNOMEDCT_US_2015_03_01:197421008 +xref: SNOMEDCT_US_2015_03_01:47312008 +xref: UMLS_CUI:C0152445 +is_a: DOID:0060262 ! gallbladder disease + +[Term] +id: DOID:9718 +name: meningococcal myocarditis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9719 +name: proliferative vitreoretinopathy +synonym: "Retinitis proliferans" EXACT [SNOMEDCT_2005_07_31:193364004] +xref: MSH:D018630 +xref: SNOMEDCT_US_2015_03_01:193364004 +xref: SNOMEDCT_US_2015_03_01:232016005 +xref: UMLS_CUI:C0242852 +is_a: DOID:5679 ! retinal disease +is_a: DOID:9720 ! vitreous disease + +[Term] +id: DOID:972 +name: malignant neoplasm of cerebrum except lobes and ventricles +is_obsolete: true + +[Term] +id: DOID:9720 +name: vitreous disease +def: "An eye and adnexa disease that is located in the vitreous of the eye." [url:http\://www.sw.org/eye-institute/retinal-vitreous-diseases] +xref: ICD10CM:H43.3 +xref: ICD10CM:H43.39 +xref: ICD9CM:379.24 +xref: SNOMEDCT_US_2015_03_01:194154006 +xref: SNOMEDCT_US_2015_03_01:194636006 +xref: UMLS_CUI:C0029872 +is_a: DOID:1492 ! eye and adnexa disease + +[Term] +id: DOID:9722 +name: ophthalmia nodosa +xref: ICD10CM:H16.24 +xref: ICD9CM:360.14 +xref: SNOMEDCT_US_2015_03_01:12371008 +xref: UMLS_CUI:C0154775 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:9723 +name: vitreous abscess +xref: ICD9CM:360.04 +xref: SNOMEDCT_US_2015_03_01:48142003 +xref: UMLS_CUI:C0042904 +is_a: DOID:9720 ! vitreous disease +is_a: DOID:9724 ! purulent endophthalmitis + +[Term] +id: DOID:9724 +name: purulent endophthalmitis +xref: ICD10CM:H44.0 +xref: ICD10CM:H44.00 +xref: ICD9CM:360.0 +xref: ICD9CM:360.00 +xref: SNOMEDCT_US_2015_03_01:193267009 +xref: SNOMEDCT_US_2015_03_01:193271007 +xref: SNOMEDCT_US_2015_03_01:41720003 +xref: UMLS_CUI:C0259800 +is_a: DOID:4692 ! endophthalmitis + +[Term] +id: DOID:9726 +name: vitreous detachment +xref: ICD10CM:H43.81 +xref: MSH:D020255 +xref: NCI:C50807 +xref: SNOMEDCT_US_2015_03_01:155202007 +xref: SNOMEDCT_US_2015_03_01:267747007 +xref: SNOMEDCT_US_2015_03_01:393583008 +xref: SNOMEDCT_US_2015_03_01:53772007 +xref: UMLS_CUI:C0042907 +is_a: DOID:5614 ! eye disease +is_a: DOID:9720 ! vitreous disease + +[Term] +id: DOID:9728 +name: vitreous membranes and strands +is_obsolete: true + +[Term] +id: DOID:9729 +name: crystalline deposits in vitreous +is_obsolete: true + +[Term] +id: DOID:9733 +name: renal tuberculosis +def: "An urogenital tuberculosis that results_in formation of granulomas located_in kidney." [url:http\://emedicine.medscape.com/article/450651-overview] +subset: gram-positive_bacterial_infectious_disease +synonym: "Tuberculosis of kidney" EXACT [ICD9CM_2006:016.0] +xref: ICD9CM:016.0 +xref: ICD9CM:016.00 +xref: MSH:D014398 +xref: SNOMEDCT_US_2015_03_01:186236001 +xref: SNOMEDCT_US_2015_03_01:44323002 +xref: UMLS_CUI:C0041328 +is_a: DOID:2149 ! urogenital tuberculosis + +[Term] +id: DOID:9734 +name: urinary tuberculosis +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9735 +name: acute allergic mucoid otitis media +def: "A blue drum syndrome caused by an allergen." [url:http\://www.ncbi.nlm.nih.gov/pubmed/15301306] +xref: ICD9CM:381.05 +xref: SNOMEDCT_US_2015_03_01:194242003 +xref: SNOMEDCT_US_2015_03_01:8326008 +xref: UMLS_CUI:C0155419 +is_a: DOID:9736 ! blue drum syndrome + +[Term] +id: DOID:9736 +name: blue drum syndrome +def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." [url:http\://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] +synonym: "acute mucoid otitis media" EXACT [ICD9CM_2006:381.02] +xref: ICD9CM:381.02 +xref: SNOMEDCT_US_2015_03_01:52353000 +xref: UMLS_CUI:C0395863 +is_a: DOID:3697 ! acute transudative otitis media + +[Term] +id: DOID:9739 +name: eustachian tube disease +def: "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false] +xref: ICD9CM:381.8 +xref: ICD9CM:381.89 +xref: SNOMEDCT_US_2015_03_01:194277003 +xref: SNOMEDCT_US_2015_03_01:194278008 +xref: UMLS_CUI:C0155435 +is_a: DOID:11180 ! non-suppurative otitis media + +[Term] +id: DOID:974 +name: upper respiratory tract disease +def: "A respiratory system disease which involves the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Category\:Upper_respiratory_tract_diseases, url:http\://www.who.int/topics/respiratory_tract_diseases/en/] +xref: ICD9CM:478.1 +xref: ICD9CM:478.19 +xref: SNOMEDCT_US_2015_03_01:195823002 +xref: SNOMEDCT_US_2015_03_01:266346007 +xref: UMLS_CUI:C0029581 +is_a: DOID:1579 ! respiratory system disease + +[Term] +id: DOID:9740 +name: postcholecystectomy syndrome +xref: ICD10CM:K91.5 +xref: ICD9CM:576.0 +xref: MSH:D017562 +xref: SNOMEDCT_US_2015_03_01:90782003 +xref: UMLS_CUI:C0152099 +is_a: DOID:9741 ! biliary tract disease + +[Term] +id: DOID:9741 +name: biliary tract disease +xref: ICD10CM:K83.9 +xref: ICD9CM:576.9 +xref: MSH:D001660 +xref: SNOMEDCT_US_2015_03_01:105997008 +xref: SNOMEDCT_US_2015_03_01:155830002 +xref: SNOMEDCT_US_2015_03_01:155832005 +xref: SNOMEDCT_US_2015_03_01:266544009 +xref: SNOMEDCT_US_2015_03_01:266545005 +xref: SNOMEDCT_US_2015_03_01:5235004 +xref: UMLS_CUI:C0005424 +is_a: DOID:3118 ! hepatobiliary disease + +[Term] +id: DOID:9742 +name: pelvic varices +xref: ICD10CM:I86.2 +xref: ICD9CM:456.5 +xref: SNOMEDCT_US_2015_03_01:17406005 +xref: SNOMEDCT_US_2015_03_01:195481006 +xref: SNOMEDCT_US_2015_03_01:266271008 +xref: UMLS_CUI:C0155795 +is_a: DOID:799 ! varicose veins + +[Term] +id: DOID:9743 +name: diabetic neuropathy +xref: ICD9CM:250.6 +xref: MSH:D003929 +xref: NCI:C26748 +xref: SNOMEDCT_US_2015_03_01:154683002 +xref: SNOMEDCT_US_2015_03_01:190349003 +xref: SNOMEDCT_US_2015_03_01:190353001 +xref: SNOMEDCT_US_2015_03_01:193182005 +xref: SNOMEDCT_US_2015_03_01:230572002 +xref: SNOMEDCT_US_2015_03_01:267472008 +xref: SNOMEDCT_US_2015_03_01:866003 +xref: UMLS_CUI:C0011882 +is_a: DOID:870 ! neuropathy + +[Term] +id: DOID:9744 +name: type 1 diabetes mellitus +def: "A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas." [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_1] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "IDDM" EXACT [] +synonym: "insulin-dependent diabetes mellitus" EXACT [] +synonym: "type I diabetes mellitus" EXACT [] +xref: EFO:0001359 +xref: ICD10CM:E10 +xref: KEGG:04940 +xref: MSH:D003922 +xref: NCI:C2986 +xref: OMIM:125852 +xref: OMIM:222100 +xref: OMIM:300136 +xref: OMIM:600318 +xref: OMIM:600319 +xref: OMIM:600320 +xref: OMIM:600321 +xref: OMIM:600883 +xref: OMIM:601208 +xref: OMIM:601318 +xref: OMIM:601388 +xref: OMIM:601666 +xref: OMIM:601941 +xref: OMIM:601942 +xref: OMIM:603266 +xref: OMIM:605598 +xref: OMIM:610155 +xref: OMIM:612520 +xref: OMIM:612521 +xref: OMIM:612522 +xref: OMIM:612622 +xref: OMIM:613006 +xref: SNOMEDCT_US_2015_03_01:154673001 +xref: SNOMEDCT_US_2015_03_01:190322003 +xref: SNOMEDCT_US_2015_03_01:190362004 +xref: SNOMEDCT_US_2015_03_01:267469001 +xref: SNOMEDCT_US_2015_03_01:46635009 +xref: UMLS_CUI:C0011854 +is_a: DOID:9351 ! diabetes mellitus + +[Term] +id: DOID:9745 +name: perianal hematoma +synonym: "External thrombosed haemorrhoids" EXACT [SNOMEDCT_2005_07_31:155474006] +synonym: "Thrombosed external hemorrhoids" EXACT [SNOMEDCT_2005_07_31:26373009] +xref: ICD10CM:K64.5 +xref: ICD9CM:455.4 +xref: SNOMEDCT_US_2015_03_01:155474006 +xref: SNOMEDCT_US_2015_03_01:157525008 +xref: SNOMEDCT_US_2015_03_01:211490002 +xref: SNOMEDCT_US_2015_03_01:26373009 +xref: SNOMEDCT_US_2015_03_01:269372002 +xref: UMLS_CUI:C0155784 +is_a: DOID:9746 ! hemorrhoid + +[Term] +id: DOID:9746 +name: hemorrhoid +def: "A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum." [PMID:19725283, url:http\://en.wikipedia.org/wiki/Hemorrhoid, url:http\://www.nlm.nih.gov/medlineplus/hemorrhoids.html] +synonym: "hemorrhoidal disease" EXACT [] +xref: ICD10CM:K64 +xref: ICD9CM:455 +xref: MSH:D006484 +xref: NCI:C26792 +xref: SNOMEDCT_US_2015_03_01:155469003 +xref: SNOMEDCT_US_2015_03_01:155477004 +xref: SNOMEDCT_US_2015_03_01:195472000 +xref: SNOMEDCT_US_2015_03_01:70153002 +xref: UMLS_CUI:C0019112 +is_a: DOID:9742 ! pelvic varices + +[Term] +id: DOID:9749 +name: internal hemorrhoid +xref: ICD9CM:455.6 +xref: SNOMEDCT_US_2015_03_01:82985000 +xref: UMLS_CUI:C0041844 +is_a: DOID:9746 ! hemorrhoid + +[Term] +id: DOID:9751 +name: popliteal cyst +synonym: "Baker's Cyst" EXACT [NCI2004_11_17:C34935] +is_obsolete: true + +[Term] +id: DOID:9753 +name: rupture of synovium +is_obsolete: true + +[Term] +id: DOID:9754 +name: ganglion or cyst of synovium/tendon/bursa +xref: ICD9CM:727.49 +xref: UMLS_CUI:C0158336 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:9761 +name: arthropathy associated with dermatological disorder +is_obsolete: true + +[Term] +id: DOID:9762 +name: perinatal cyanotic attack +synonym: "Cyanotic attacks of newborn" EXACT [ICD9CM_2006:770.83] +is_obsolete: true + +[Term] +id: DOID:9764 +name: biliary calculus with cholecystitis +synonym: "calculus of gallbladder with cholecystitis (disorder)" EXACT [SNOMEDCT_2005_07_31:25924004] +synonym: "cholecystitis with Cholelithiasis" EXACT [NCI2004_11_17:C35332] +is_obsolete: true + +[Term] +id: DOID:9765 +name: emphysematous cholecystitis +def: "Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous] +synonym: "Gaseous pericholecystitis" EXACT [SNOMEDCT_2005_07_31:95558008] +xref: MSH:D041882 +xref: NCI:C35592 +xref: SNOMEDCT_US_2015_03_01:95558008 +xref: UMLS_CUI:C0521610 +is_a: DOID:1949 ! cholecystitis + +[Term] +id: DOID:9766 +name: xanthogranulomatous cholecystitis +xref: MSH:C536762 +xref: NCI:C35792 +xref: SNOMEDCT_US_2015_03_01:448286002 +xref: UMLS_CUI:C1337035 +is_a: DOID:1949 ! cholecystitis + +[Term] +id: DOID:9767 +name: myocardial stunning +xref: MSH:D017682 +xref: UMLS_CUI:C0206146 +is_a: DOID:5844 ! myocardial infarction + +[Term] +id: DOID:9768 +name: heart aneurysm +synonym: "cardiac aneurysm" EXACT [CSP2005:1393-3252] +xref: ICD10CM:I25.3 +xref: MSH:D006322 +xref: SNOMEDCT_US_2015_03_01:155317009 +xref: SNOMEDCT_US_2015_03_01:194847002 +xref: SNOMEDCT_US_2015_03_01:65340007 +xref: UMLS_CUI:C0018789 +is_a: DOID:114 ! heart disease + +[Term] +id: DOID:9770 +name: Retracted nipple associated with childbirth +is_obsolete: true + +[Term] +id: DOID:9771 +name: transient neonatal thrombocytopenia +xref: ICD10CM:P61.0 +xref: ICD9CM:776.1 +xref: SNOMEDCT_US_2015_03_01:206514004 +xref: SNOMEDCT_US_2015_03_01:23205009 +xref: UMLS_CUI:C0158991 +is_a: DOID:11245 ! transient neonatal neutropenia + +[Term] +id: DOID:9772 +name: hematological disease of fetus and newborn +is_obsolete: true + +[Term] +id: DOID:9773 +name: female breast upper-outer quadrant cancer +xref: ICD10CM:C50.41 +xref: ICD9CM:174.4 +xref: SNOMEDCT_US_2015_03_01:188154003 +xref: UMLS_CUI:C0153552 +is_a: DOID:0050671 ! female breast cancer + +[Term] +id: DOID:9775 +name: diastolic heart failure +xref: ICD10CM:I50.30 +xref: ICD9CM:428.3 +xref: ICD9CM:428.30 +xref: MSH:D054144 +xref: SNOMEDCT_US_2015_03_01:418304008 +xref: UMLS_CUI:C1135196 +is_a: DOID:6000 ! congestive heart failure + +[Term] +id: DOID:9776 +name: Senile atrophy of choroid +xref: ICD9CM:363.41 +xref: SNOMEDCT_US_2015_03_01:38513001 +xref: UMLS_CUI:C0154891 +is_a: DOID:980 ! choroidal sclerosis + +[Term] +id: DOID:9778 +name: irritable bowel syndrome +def: "A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/ibs/, url:http\://en.wikipedia.org/wiki/Irritable_bowel_syndrome] +synonym: "IBD" EXACT [CSP2005:1248-5871] +synonym: "Irritable colon" EXACT [MTHICD9_2006:564.1] +synonym: "Psychogenic IBS" RELATED [SNOMEDCT_2005_07_31:10743008] +xref: ICD10CM:K58 +xref: ICD10CM:K58.9 +xref: ICD9CM:564.1 +xref: KEGG:05321 +xref: MSH:D043183 +xref: NCI:C82343 +xref: SNOMEDCT_US_2015_03_01:10743008 +xref: SNOMEDCT_US_2015_03_01:155783000 +xref: SNOMEDCT_US_2015_03_01:192434000 +xref: SNOMEDCT_US_2015_03_01:197124009 +xref: SNOMEDCT_US_2015_03_01:266525002 +xref: UMLS_CUI:C0022104 +is_a: DOID:225 ! syndrome + +[Term] +id: DOID:9779 +name: bowel dysfunction +xref: ICD10CM:K59.9 +xref: ICD9CM:564.9 +xref: SNOMEDCT_US_2015_03_01:81120009 +xref: UMLS_CUI:C0016807 +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:9784 +name: trichinosis +def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm] +synonym: "Trichinella spiralis infection" EXACT [MTHICD9_2006:124] +xref: ICD10CM:B75 +xref: ICD9CM:124 +xref: MSH:D014235 +xref: NCI:C85199 +xref: SNOMEDCT_US_2015_03_01:154415009 +xref: SNOMEDCT_US_2015_03_01:266222003 +xref: SNOMEDCT_US_2015_03_01:88264003 +xref: UMLS_CUI:C0040896 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:9786 +name: bulbar polio +def: "A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing." [url:http\://en.wikipedia.org/wiki/Poliomyelitis] +synonym: "bulbar poliomyelitis" EXACT [] +xref: ICD9CM:045.0 +xref: MSH:D011052 +xref: SNOMEDCT_US_2015_03_01:186475007 +xref: SNOMEDCT_US_2015_03_01:398327006 +xref: SNOMEDCT_US_2015_03_01:54839009 +xref: SNOMEDCT_US_2015_03_01:64764001 +xref: UMLS_CUI:C0032372 +is_a: DOID:0050515 ! paralytic poliomyelitis + +[Term] +id: DOID:9787 +name: Foreign body granuloma of muscle +is_obsolete: true + +[Term] +id: DOID:9788 +name: myositis fibrosa +synonym: "Interstitial myositis" EXACT [ICD9CM_2006:728.81] +xref: ICD10CM:M60.1 +xref: ICD9CM:728.81 +xref: NCI:C26985 +xref: SNOMEDCT_US_2015_03_01:55925001 +xref: UMLS_CUI:C0158362 +is_a: DOID:633 ! myositis + +[Term] +id: DOID:979 +name: angioid streaks of choroid +xref: ICD9CM:363.43 +xref: SNOMEDCT_US_2015_03_01:86103006 +xref: UMLS_CUI:C0002983 +is_a: DOID:980 ! choroidal sclerosis + +[Term] +id: DOID:9790 +name: toxocariasis +alt_id: DOID:9791 +def: "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm] +synonym: "Infection by Toxascaris (disorder)" EXACT [SNOMEDCT_2005_07_31:76695000] +synonym: "Toxocara infection" EXACT [MTHICD9_2006:128.0] +synonym: "visceral larva migrans" EXACT [] +xref: ICD10CM:B83.0 +xref: MSH:D007816 +xref: NCI:C34758 +xref: SNOMEDCT_US_2015_03_01:87121004 +xref: UMLS_CUI:C0023049 +is_a: DOID:883 ! parasitic helminthiasis infectious disease + +[Term] +id: DOID:9794 +name: hereditary choroidal atrophy +xref: ICD10CM:H31.2 +xref: ICD10CM:H31.20 +xref: ICD9CM:363.5 +xref: ICD9CM:363.50 +xref: SNOMEDCT_US_2015_03_01:193465004 +xref: SNOMEDCT_US_2015_03_01:193473008 +xref: SNOMEDCT_US_2015_03_01:74469006 +xref: UMLS_CUI:C0154893 +is_a: DOID:980 ! choroidal sclerosis + +[Term] +id: DOID:9795 +name: tuberculous meningitis +alt_id: DOID:9793 +subset: gram-positive_bacterial_infectious_disease +synonym: "meningeal tuberculosis" EXACT [] +synonym: "tuberculoma of meninges" EXACT [] +is_obsolete: true + +[Term] +id: DOID:9799 +name: eye degenerative disease +xref: ICD10CM:H44.30 +xref: ICD10CM:H44.5 +xref: ICD9CM:360.2 +xref: ICD9CM:360.20 +xref: ICD9CM:360.4 +xref: ICD9CM:360.40 +xref: SNOMEDCT_US_2015_03_01:193275003 +xref: SNOMEDCT_US_2015_03_01:193279009 +xref: SNOMEDCT_US_2015_03_01:193285002 +xref: SNOMEDCT_US_2015_03_01:193292007 +xref: SNOMEDCT_US_2015_03_01:62585004 +xref: UMLS_CUI:C0154777 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:98 +name: staphylococcal infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:980 +name: choroidal sclerosis +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Choroidal degeneration (disorder)" RELATED [SNOMEDCT_2005_07_31:406446000] +synonym: "Choroidal degenerations" EXACT [ICD9CM_2006:363.4] +xref: ICD10CM:H31.1 +xref: ICD10CM:H31.10 +xref: ICD9CM:363.4 +xref: ICD9CM:363.40 +xref: OMIM:215500 +xref: SNOMEDCT_US_2015_03_01:193461008 +xref: SNOMEDCT_US_2015_03_01:193464000 +xref: SNOMEDCT_US_2015_03_01:247199007 +xref: SNOMEDCT_US_2015_03_01:267617003 +xref: SNOMEDCT_US_2015_03_01:406446000 +xref: SNOMEDCT_US_2015_03_01:47638000 +xref: UMLS_CUI:C0344297 +is_a: DOID:9799 ! eye degenerative disease + +[Term] +id: DOID:9801 +name: tuberculous peritonitis +def: "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false] +subset: gram-positive_bacterial_infectious_disease +xref: ICD10CM:A18.31 +xref: ICD9CM:014.0 +xref: MSH:D014395 +xref: SNOMEDCT_US_2015_03_01:197170002 +xref: SNOMEDCT_US_2015_03_01:31838005 +xref: SNOMEDCT_US_2015_03_01:44572005 +xref: UMLS_CUI:C0041325 +is_a: DOID:404 ! gastrointestinal tuberculosis + +[Term] +id: DOID:9804 +name: pneumococcal peritonitis +def: "A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20013929] +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9805 +name: pneumococcal infectious disease +subset: gram-positive_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9808 +name: Goodpasture syndrome +alt_id: DOID:9812 +def: "A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung." [url:http\://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "anti-glomerular basement membrane disease" EXACT [] +xref: ICD10CM:M31.0 +xref: ICD9CM:446.21 +xref: MSH:D019867 +xref: NCI2009_04D:C34649 +xref: NCI:C34649 +xref: NCI:C84566 +xref: OMIM:233450 +xref: SNOMEDCT_US_2015_03_01:155445002 +xref: SNOMEDCT_US_2015_03_01:195351002 +xref: SNOMEDCT_US_2015_03_01:236506009 +xref: SNOMEDCT_US_2015_03_01:266323005 +xref: SNOMEDCT_US_2015_03_01:50581000 +xref: UMLS_CUI:C0403529 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:9809 +name: hypersensitivity vasculitis +xref: ICD10CM:D69.0 +xref: ICD10CM:M31.0 +xref: ICD9CM:446.2 +xref: ICD9CM:446.20 +xref: MSH:D018366 +xref: NCI:C35119 +xref: SNOMEDCT_US_2015_03_01:195350001 +xref: SNOMEDCT_US_2015_03_01:195352009 +xref: SNOMEDCT_US_2015_03_01:60555002 +xref: UMLS_CUI:C0151436 +is_a: DOID:1557 ! hypersensitivity reaction type III disease + +[Term] +id: DOID:981 +name: diffuse secondary choroid atrophy +xref: ICD10CM:H31.12 +xref: ICD9CM:363.42 +xref: SNOMEDCT_US_2015_03_01:1843008 +xref: SNOMEDCT_US_2015_03_01:193463006 +xref: UMLS_CUI:C0154892 +is_a: DOID:980 ! choroidal sclerosis + +[Term] +id: DOID:9810 +name: polyarteritis nodosa +xref: ICD10CM:M30.0 +xref: ICD9CM:446.0 +xref: MSH:D010488 +xref: NCI:C26847 +xref: SNOMEDCT_US_2015_03_01:155441006 +xref: SNOMEDCT_US_2015_03_01:155445002 +xref: SNOMEDCT_US_2015_03_01:195347004 +xref: SNOMEDCT_US_2015_03_01:266323005 +xref: SNOMEDCT_US_2015_03_01:286960005 +xref: SNOMEDCT_US_2015_03_01:66121003 +xref: UMLS_CUI:C0031036 +is_a: DOID:865 ! vasculitis + +[Term] +id: DOID:9811 +name: partial circumpapillary choroid dystrophy +xref: ICD9CM:363.51 +xref: SNOMEDCT_US_2015_03_01:193466003 +xref: SNOMEDCT_US_2015_03_01:42175004 +xref: UMLS_CUI:C0154895 +is_a: DOID:9794 ! hereditary choroidal atrophy + +[Term] +id: DOID:9814 +name: rheumatic heart disease +subset: gram-positive_bacterial_infectious_disease +synonym: "Rheumatic carditis" EXACT [SNOMEDCT_2005_07_31:201793007] +is_obsolete: true + +[Term] +id: DOID:9815 +name: Recent retinal detachment, total or subtotal +is_obsolete: true + +[Term] +id: DOID:9816 +name: partial recent retinal detachment with giant tear +is_obsolete: true + +[Term] +id: DOID:9818 +name: retinal defect +alt_id: DOID:12513 +alt_id: DOID:12515 +alt_id: DOID:9817 +alt_id: DOID:9826 +is_obsolete: true + +[Term] +id: DOID:9819 +name: delimited old retinal detachment +is_obsolete: true + +[Term] +id: DOID:982 +name: disorganized type schizophrenia subchronic state with acute exacerbation +is_obsolete: true + +[Term] +id: DOID:9820 +name: central gyrate choroidal dystrophy +synonym: "Choroidal dystrophy, serpiginous" EXACT [MTHICD9_2006:363.54] +xref: ICD9CM:363.54 +xref: SNOMEDCT_US_2015_03_01:12778004 +xref: SNOMEDCT_US_2015_03_01:193469005 +xref: SNOMEDCT_US_2015_03_01:392049002 +xref: UMLS_CUI:C0154898 +is_a: DOID:9822 ! partial central choroid dystrophy + +[Term] +id: DOID:9821 +name: choroideremia +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "progressive Choroidal Atrophy" EXACT [NCI2004_11_17:C34469] +xref: ICD10CM:H31.21 +xref: ICD9CM:363.55 +xref: MSH:D015794 +xref: NCI:C34469 +xref: OMIM:303100 +xref: SNOMEDCT_US_2015_03_01:75241009 +xref: UMLS_CUI:C0008525 +is_a: DOID:1417 ! choroid disease +is_a: DOID:8466 ! retinal degeneration + +[Term] +id: DOID:9822 +name: partial central choroid dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Choroidal dystrophy, central areolar" EXACT [MTHICD9_2006:363.53] +xref: ICD9CM:363.53 +xref: OMIM:613105 +xref: SNOMEDCT_US_2015_03_01:193468002 +xref: SNOMEDCT_US_2015_03_01:80526002 +xref: UMLS_CUI:C0339427 +is_a: DOID:9794 ! hereditary choroidal atrophy + +[Term] +id: DOID:9823 +name: Partial recent retinal detachment with retinal dialysis +is_obsolete: true + +[Term] +id: DOID:9824 +name: total or subtotal old retinal detachment +is_obsolete: true + +[Term] +id: DOID:9827 +name: radioulnar synostosis +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q74.0 +xref: ICD9CM:755.53 +xref: MSH:C562408 +xref: OMIM:179300 +xref: SNOMEDCT_US_2015_03_01:33313004 +xref: UMLS_CUI:C0158761 +is_a: DOID:0080015 ! physical disorder + +[Term] +id: DOID:9828 +name: neonatal abstinence syndrome +alt_id: DOID:6679 +def: "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment." [url:http\://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004566/] +synonym: "Drug withdrawal syndrome in newborn" EXACT [SNOMEDCT_2005_07_31:61628006] +xref: ICD10CM:P96.1 +xref: ICD9CM:779.5 +xref: MSH:D009357 +xref: NCI:C35808 +xref: NCI:C87101 +xref: SNOMEDCT_US_2015_03_01:414819007 +xref: SNOMEDCT_US_2015_03_01:61628006 +xref: UMLS_CUI:C0027609 +xref: UMLS_CUI:C1332133 +is_a: DOID:0060001 ! withdrawal disorder + +[Term] +id: DOID:9829 +name: drug abstinence syndrome or symptom +is_obsolete: true + +[Term] +id: DOID:9834 +name: hyperopia +synonym: "Far-sightedness" EXACT [MTHICD9_2006:367.0] +synonym: "hypermetropia" EXACT [ICD9CM_2006:367.0] +xref: ICD10CM:H52.0 +xref: ICD9CM:367.0 +xref: MSH:D006956 +xref: SNOMEDCT_US_2015_03_01:155132008 +xref: SNOMEDCT_US_2015_03_01:38101003 +xref: UMLS_CUI:C0020490 +is_a: DOID:9835 ! refractive error + +[Term] +id: DOID:9835 +name: refractive error +synonym: "disorder of refraction" EXACT [SNOMEDCT_2005_07_31:314027003] +synonym: "eye refraction disorder" EXACT [CSP2005:1116-1207] +xref: EFO:0003908 +xref: ICD10CM:H52.7 +xref: MSH:D012030 +xref: NCI:C87145 +xref: SNOMEDCT_US_2015_03_01:21324001 +xref: SNOMEDCT_US_2015_03_01:267723000 +xref: SNOMEDCT_US_2015_03_01:314027003 +xref: SNOMEDCT_US_2015_03_01:39021009 +xref: UMLS_CUI:C0034951 +is_a: DOID:5614 ! eye disease + +[Term] +id: DOID:9836 +name: refraction or accommodation disorder +is_obsolete: true + +[Term] +id: DOID:9837 +name: hypertropia +xref: ICD10CM:H50.2 +xref: ICD9CM:378.31 +xref: MSH:D013285 +xref: NCI:C34716 +xref: SNOMEDCT_US_2015_03_01:194109005 +xref: SNOMEDCT_US_2015_03_01:40608009 +xref: UMLS_CUI:C0020575 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9838 +name: cyclotropia +xref: ICD10CM:H50.41 +xref: ICD9CM:378.33 +xref: SNOMEDCT_US_2015_03_01:70486007 +xref: UMLS_CUI:C0152209 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9839 +name: accommodative esotropia +xref: ICD10CM:H50.43 +xref: ICD9CM:378.35 +xref: SNOMEDCT_US_2015_03_01:18369000 +xref: SNOMEDCT_US_2015_03_01:194112008 +xref: SNOMEDCT_US_2015_03_01:419494007 +xref: UMLS_CUI:C0155336 +is_a: DOID:9840 ! esotropia + +[Term] +id: DOID:984 +name: temporomandibular joint disorder +alt_id: DOID:983 +synonym: "Costen's syndrome" EXACT [SNOMEDCT_2005_07_31:196430007] +synonym: "Myofascial pain - dysfunction syndrome of TMJ" EXACT [SNOMEDCT_2005_07_31:13612005, SNOMEDCT_2005_07_31:386207004] +synonym: "temporomandibular dysfunction syndrome" EXACT [CSP2005:2139-2181] +synonym: "temporomandibular joint dysfunction syndrome" EXACT [] +synonym: "TMJ SYNDROME" EXACT [MTH:742] +synonym: "TMJ-pain-dysfunction syndrome" EXACT [MTHICD9_2006:524.60] +is_obsolete: true + +[Term] +id: DOID:9840 +name: esotropia +def: "Esotropia is a strabismus in which the eye turns inward toward the nose." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+] +synonym: "Convergence in manifest squint (finding)" EXACT [SNOMEDCT_2005_07_31:246711006] +synonym: "crossed eyes" EXACT [CSP2005:1115-2310] +synonym: "Internal Strabismus" EXACT [NCI2004_11_17:C34596] +xref: ICD10CM:H50.0 +xref: ICD10CM:H50.00 +xref: ICD9CM:378.0 +xref: ICD9CM:378.00 +xref: MSH:D004948 +xref: NCI:C34596 +xref: SNOMEDCT_US_2015_03_01:155193001 +xref: SNOMEDCT_US_2015_03_01:16596007 +xref: SNOMEDCT_US_2015_03_01:194074002 +xref: SNOMEDCT_US_2015_03_01:194085000 +xref: UMLS_CUI:C0014877 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9841 +name: hypotropia +xref: ICD9CM:378.32 +xref: NCI:C42086 +xref: SNOMEDCT_US_2015_03_01:29491004 +xref: UMLS_CUI:C0152208 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9842 +name: total circumpapillary dystrophy of choroid +synonym: "Circumpapillary dystrophy of choroid, total" EXACT [ICD9CM_2006:363.52] +xref: ICD9CM:363.52 +xref: SNOMEDCT_US_2015_03_01:59753003 +xref: UMLS_CUI:C0154896 +is_a: DOID:9794 ! hereditary choroidal atrophy + +[Term] +id: DOID:9843 +name: monofixation syndrome +xref: ICD10CM:H50.42 +xref: ICD9CM:378.34 +xref: SNOMEDCT_US_2015_03_01:14785004 +xref: SNOMEDCT_US_2015_03_01:194111001 +xref: UMLS_CUI:C0339611 +is_a: DOID:540 ! strabismus + +[Term] +id: DOID:9847 +name: peripheral vertigo +xref: ICD10CM:H81.3 +xref: ICD10CM:H81.39 +xref: ICD10CM:H81.399 +xref: ICD9CM:386.1 +xref: ICD9CM:386.19 +xref: SNOMEDCT_US_2015_03_01:194353007 +xref: SNOMEDCT_US_2015_03_01:194359006 +xref: SNOMEDCT_US_2015_03_01:194692006 +xref: UMLS_CUI:C0029706 +is_a: DOID:3426 ! vestibular disease + +[Term] +id: DOID:9848 +name: endolymphatic hydrops +synonym: "labyrinthine hydrops" EXACT [CSP2005:0977-6437] +xref: ICD10CM:H81.0 +xref: MSH:D018159 +xref: SNOMEDCT_US_2015_03_01:194346003 +xref: SNOMEDCT_US_2015_03_01:27621000119100 +xref: SNOMEDCT_US_2015_03_01:70831000119103 +xref: SNOMEDCT_US_2015_03_01:9794007 +xref: UMLS_CUI:C0206586 +is_a: DOID:9847 ! peripheral vertigo + +[Term] +id: DOID:9849 +name: Meniere's disease +def: "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." [url:http\://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease] +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "Meniere disease" EXACT [SNOMEDCT_2005_07_31:194346003] +synonym: "Mnire's vertigo" EXACT [SNOMEDCT_2005_07_31:13445001] +synonym: "Otogenic vertigo" EXACT [MTHICD9_2006:386.19] +xref: ICD10CM:H81.0 +xref: ICD10CM:H81.09 +xref: ICD9CM:386.0 +xref: ICD9CM:386.00 +xref: MSH:D008575 +xref: OMIM:156000 +xref: SNOMEDCT_US_2015_03_01:13445001 +xref: SNOMEDCT_US_2015_03_01:155235002 +xref: SNOMEDCT_US_2015_03_01:194346003 +xref: SNOMEDCT_US_2015_03_01:194347007 +xref: SNOMEDCT_US_2015_03_01:194352002 +xref: UMLS_CUI:C0025281 +is_a: DOID:9848 ! endolymphatic hydrops + +[Term] +id: DOID:985 +name: disorganized type schizophrenia subchronic state +is_obsolete: true + +[Term] +id: DOID:9854 +name: lingual-facial-buccal dyskinesia +synonym: "Oro-facial dyskinesia" EXACT [SNOMEDCT_2005_07_31:155007009] +xref: ICD10CM:G24.4 +xref: ICD9CM:333.82 +xref: MSH:D009069 +xref: SNOMEDCT_US_2015_03_01:155007009 +xref: SNOMEDCT_US_2015_03_01:192861006 +xref: SNOMEDCT_US_2015_03_01:267689009 +xref: SNOMEDCT_US_2015_03_01:49386006 +xref: UMLS_CUI:C0152115 +is_a: DOID:480 ! movement disease + +[Term] +id: DOID:9855 +name: syphilitic interstitial keratitis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9856 +name: congenital syphilis +def: "A syphilis that results_in a multisystem infection in the fetus via the placenta." [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] +subset: gram-negative_bacterial_infectious_disease +xref: ICD10CM:A50 +xref: ICD10CM:A50.9 +xref: ICD9CM:090 +xref: ICD9CM:090.9 +xref: MSH:D013590 +xref: NCI:C84649 +xref: SNOMEDCT_US_2015_03_01:154380005 +xref: SNOMEDCT_US_2015_03_01:186845009 +xref: SNOMEDCT_US_2015_03_01:187352005 +xref: SNOMEDCT_US_2015_03_01:35742006 +xref: UMLS_CUI:C0039131 +is_a: DOID:4166 ! syphilis + +[Term] +id: DOID:9857 +name: interstitial keratitis +xref: ICD10CM:H16.30 +xref: ICD9CM:370.50 +xref: SNOMEDCT_US_2015_03_01:1763009 +xref: SNOMEDCT_US_2015_03_01:193784002 +xref: UMLS_CUI:C0155088 +is_a: DOID:65 ! connective tissue disease +is_a: DOID:9858 ! deep keratitis + +[Term] +id: DOID:9858 +name: deep keratitis +xref: ICD10CM:H16.3 +xref: ICD9CM:370.5 +xref: SNOMEDCT_US_2015_03_01:193783008 +xref: SNOMEDCT_US_2015_03_01:193788004 +xref: UMLS_CUI:C0155087 +is_a: DOID:4677 ! keratitis + +[Term] +id: DOID:986 +name: alopecia areata +def: "A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots." [ls:IEDB, url:http\://en.wikipedia.org/wiki/Alopecia_areata] +synonym: "Circumscribed alopecia" EXACT [SNOMEDCT_2005_07_31:238727007] +xref: EFO:0004192 +xref: ICD10CM:L63 +xref: ICD10CM:L63.9 +xref: ICD9CM:704.01 +xref: MSH:D000506 +xref: OMIM:104000 +xref: OMIM:610753 +xref: SNOMEDCT_US_2015_03_01:201131001 +xref: SNOMEDCT_US_2015_03_01:238727007 +xref: SNOMEDCT_US_2015_03_01:68225006 +xref: UMLS_CUI:C0002171 +is_a: DOID:417 ! hypersensitivity reaction type II disease + +[Term] +id: DOID:9861 +name: miliary tuberculosis +alt_id: DOID:9862 +def: "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." [url:http\://en.wikipedia.org/wiki/Disseminated_tuberculosis] +subset: gram-positive_bacterial_infectious_disease +synonym: "acute miliary tuberculosis" EXACT [ICD9CM_2006:018.0] +synonym: "Disseminated tuberculosis (disorder)" EXACT [SNOMEDCT_2005_07_31:182159002] +synonym: "generalized tuberculosis" EXACT [] +synonym: "Tuberculosis miliaris disseminata (disorder)" EXACT [SNOMEDCT_2005_07_31:180213004] +xref: ICD10CM:A19 +xref: ICD10CM:A19.9 +xref: ICD9CM:018 +xref: ICD9CM:018.9 +xref: ICD9CM:018.90 +xref: MSH:D014391 +xref: NCI:C35086 +xref: SNOMEDCT_US_2015_03_01:154291001 +xref: SNOMEDCT_US_2015_03_01:186280001 +xref: SNOMEDCT_US_2015_03_01:187295007 +xref: SNOMEDCT_US_2015_03_01:47604008 +xref: UMLS_CUI:C0041321 +is_a: DOID:0050598 ! extrapulmonary tuberculosis + +[Term] +id: DOID:9866 +name: lactation disorder +is_obsolete: true + +[Term] +id: DOID:9867 +name: toxic maculopathy +synonym: "Toxic maculopathy of retina" EXACT [ICD9CM_2006:362.55] +xref: ICD10CM:H35.38 +xref: ICD9CM:362.55 +xref: SNOMEDCT_US_2015_03_01:193389005 +xref: SNOMEDCT_US_2015_03_01:44115007 +xref: UMLS_CUI:C0271086 +is_a: DOID:2007 ! degeneration of macula and posterior pole + +[Term] +id: DOID:9868 +name: intestinal disaccharidase deficiency +xref: ICD9CM:271.3 +xref: NCI:C34731 +xref: UMLS_CUI:C0021830 +is_a: DOID:2978 ! carbohydrate metabolic disorder +is_a: DOID:5295 ! intestinal disease + +[Term] +id: DOID:9869 +name: hereditary fructose intolerance syndrome +synonym: "Fructosaemia" EXACT [SNOMEDCT_2005_07_31:20290005] +synonym: "Fructose-1,6-bisphosphate aldolase B deficiency" EXACT [SNOMEDCT_2005_07_31:237962008] +synonym: "Fructosemia" EXACT [MTHICD9_2006:271.2] +xref: ICD10CM:E74.12 +xref: ICD9CM:271.2 +xref: MSH:D005633 +xref: NCI:C84720 +xref: SNOMEDCT_US_2015_03_01:20052008 +xref: SNOMEDCT_US_2015_03_01:20290005 +xref: SNOMEDCT_US_2015_03_01:237962008 +xref: UMLS_CUI:C0016751 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:987 +name: alopecia +def: "A hypotrichosis that is characterized by a loss of hair from the head or body." [url:http\://en.wikipedia.org/wiki/Alopecia, url:http\://www.omim.org/entry/109200?search=109200&highlight=109200] +xref: ICD10CM:L65.9 +xref: ICD9CM:704.0 +xref: ICD9CM:704.00 +xref: MSH:D000505 +xref: NCI:C50575 +xref: OMIM:109200 +xref: OMIM:300042 +xref: SNOMEDCT_US_2015_03_01:156408004 +xref: SNOMEDCT_US_2015_03_01:201129005 +xref: SNOMEDCT_US_2015_03_01:201130000 +xref: SNOMEDCT_US_2015_03_01:201157003 +xref: SNOMEDCT_US_2015_03_01:267810004 +xref: SNOMEDCT_US_2015_03_01:270504008 +xref: SNOMEDCT_US_2015_03_01:278040002 +xref: SNOMEDCT_US_2015_03_01:56317004 +xref: UMLS_CUI:C0002170 +is_a: DOID:4535 ! hypotrichosis + +[Term] +id: DOID:9870 +name: galactosemia +def: "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues." [url:http\://en.wikipedia.org/wiki/Galactosemia] +comment: OMIM mapping by NeuroDevNet. [LS]. +synonym: "Galactosaemia" EXACT [SNOMEDCT_2005_07_31:154738008] +synonym: "Galactose intolerance" EXACT [SNOMEDCT_2005_07_31:190749000] +xref: ICD10CM:E74.21 +xref: ICD9CM:271.1 +xref: MSH:D005693 +xref: NCI:C84723 +xref: OMIM:230350 +xref: OMIM:230400 +xref: SNOMEDCT_US_2015_03_01:154738008 +xref: SNOMEDCT_US_2015_03_01:190745006 +xref: SNOMEDCT_US_2015_03_01:190747003 +xref: SNOMEDCT_US_2015_03_01:190749000 +xref: SNOMEDCT_US_2015_03_01:267498002 +xref: SNOMEDCT_US_2015_03_01:38177000 +xref: UMLS_CUI:C0016952 +is_a: DOID:2978 ! carbohydrate metabolic disorder + +[Term] +id: DOID:9877 +name: urethral gland abscess +xref: ICD10CM:N34.0 +xref: ICD9CM:597.0 +xref: SNOMEDCT_US_2015_03_01:197899005 +xref: SNOMEDCT_US_2015_03_01:197900000 +xref: SNOMEDCT_US_2015_03_01:197901001 +xref: SNOMEDCT_US_2015_03_01:197902008 +xref: SNOMEDCT_US_2015_03_01:67277002 +xref: UMLS_CUI:C0156278 +is_a: DOID:732 ! urethral disease + +[Term] +id: DOID:9878 +name: Excessive vomiting starting after 22 completed weeks of gestation +alt_id: DOID:13418 +synonym: "antepartum late vomiting of pregnancy" EXACT [] +is_obsolete: true + +[Term] +id: DOID:988 +name: mitral valve prolapse +def: "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole." [url:http\://en.wikipedia.org/wiki/Mitral_valve_prolapse, url:http\://ghr.nlm.nih.gov/glossary=mitralvalveprolapse, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +synonym: "Barlow's syndrome" EXACT [MTH:097] +synonym: "floppy mitral valve" EXACT [] +synonym: "mitral leaflet syndrome" RELATED [] +synonym: "myxomatous mitral valve prolapse" RELATED [] +synonym: "systolic click-murmur syndrome" RELATED [] +xref: MSH:D008945 +xref: NCI:C50655 +xref: OMIM:157700 +xref: OMIM:607829 +xref: OMIM:610840 +xref: SNOMEDCT_US_2015_03_01:155386005 +xref: SNOMEDCT_US_2015_03_01:194977007 +xref: SNOMEDCT_US_2015_03_01:194980008 +xref: SNOMEDCT_US_2015_03_01:409712001 +xref: SNOMEDCT_US_2015_03_01:42069006 +xref: SNOMEDCT_US_2015_03_01:45023003 +xref: SNOMEDCT_US_2015_03_01:8074002 +xref: UMLS_CUI:C0026267 +is_a: DOID:61 ! mitral valve disease + +[Term] +id: DOID:9880 +name: cardiovascular syphilis +def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." [url:http\://emedicine.medscape.com/article/229461-overview#a0104, url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +xref: ICD9CM:093.8 +xref: ICD9CM:093.89 +xref: SNOMEDCT_US_2015_03_01:111823001 +xref: SNOMEDCT_US_2015_03_01:186880008 +xref: SNOMEDCT_US_2015_03_01:186882000 +xref: UMLS_CUI:C0029751 +is_a: DOID:8200 ! tertiary syphilis + +[Term] +id: DOID:9883 +name: Becker muscular dystrophy +comment: OMIM mapping confirmed by DO. [SN]. +synonym: "benign congenital myopathy" EXACT [] +synonym: "Benign pseudohypertrophic muscular dystrophy" EXACT [] +xref: OMIM:300376 +xref: SNOMEDCT_US_2015_03_01:111501005 +xref: SNOMEDCT_US_2015_03_01:193222002 +xref: UMLS_CUI:C0699741 +is_a: DOID:9884 ! muscular dystrophy + +[Term] +id: DOID:9884 +name: muscular dystrophy +def: "A myopathy is characterized by progressive skeletal muscle weakness degeneration." [url:http\://en.wikipedia.org/wiki/Muscular_dystrophy, url:http\://www.ninds.nih.gov/disorders/md/md.htm] +xref: ICD10CM:G71.0 +xref: ICD9CM:359.1 +xref: MSH:D009136 +xref: NCI:C84910 +xref: OMIM:158800 +xref: OMIM:159050 +xref: OMIM:309930 +xref: OMIM:309950 +xref: OMIM:310000 +xref: OMIM:310095 +xref: OMIM:600416 +xref: SNOMEDCT_US_2015_03_01:155095006 +xref: SNOMEDCT_US_2015_03_01:193225000 +xref: SNOMEDCT_US_2015_03_01:193236007 +xref: SNOMEDCT_US_2015_03_01:193257004 +xref: SNOMEDCT_US_2015_03_01:267712004 +xref: SNOMEDCT_US_2015_03_01:44292004 +xref: SNOMEDCT_US_2015_03_01:73297009 +xref: UMLS_CUI:C0026850 +is_a: DOID:423 ! myopathy + +[Term] +id: DOID:9888 +name: alternating esotropia +xref: ICD10CM:H50.05 +xref: ICD9CM:378.05 +xref: SNOMEDCT_US_2015_03_01:194080005 +xref: SNOMEDCT_US_2015_03_01:39837002 +xref: UMLS_CUI:C0152205 +is_a: DOID:9840 ! esotropia + +[Term] +id: DOID:9889 +name: alternating esotropia with A pattern +is_obsolete: true + +[Term] +id: DOID:9890 +name: intermittent alternating esotropia +is_obsolete: true + +[Term] +id: DOID:9891 +name: alternating esotropia with V pattern +is_obsolete: true + +[Term] +id: DOID:9892 +name: median arcuate ligament syndrome +synonym: "Celiac artery compression syndrome" EXACT [ICD9CM_2006:447.4] +synonym: "Harjola-Marable syndrome" EXACT [] +synonym: "Marable's syndrome" EXACT [] +xref: ICD10:177.4 +xref: ICD10CM:I77.4 +xref: ICD9CM:447.4 +xref: SNOMEDCT_US_2015_03_01:9250002 +xref: UMLS_CUI:C0152098 +is_a: DOID:0050828 ! artery disease + +[Term] +id: DOID:9893 +name: periodontosis +xref: ICD10CM:K05.4 +xref: ICD9CM:523.5 +xref: MSH:D010520 +xref: UMLS_CUI:C0600298 +is_a: DOID:1091 ! tooth disease + +[Term] +id: DOID:9898 +name: villonodular synovitis +alt_id: DOID:10635 +alt_id: DOID:10636 +alt_id: DOID:10637 +alt_id: DOID:10638 +alt_id: DOID:10639 +alt_id: DOID:10640 +alt_id: DOID:10641 +alt_id: DOID:9897 +xref: ICD10CM:M12.20 +xref: ICD9CM:719.2 +xref: ICD9CM:719.20 +xref: SNOMEDCT_US_2015_03_01:202423001 +xref: SNOMEDCT_US_2015_03_01:202454002 +xref: SNOMEDCT_US_2015_03_01:34671005 +xref: SNOMEDCT_US_2015_03_01:95411002 +xref: UMLS_CUI:C0158168 +is_a: DOID:381 ! arthropathy + +[Term] +id: DOID:9899 +name: glaucoma associated with tumors or cysts +is_obsolete: true + +[Term] +id: DOID:990 +name: congenital heart block +def: "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life." [PMID:22368629] +comment: OMIM mapping confirmed by DO. [SN]. +xref: ICD10CM:Q24.6 +xref: ICD9CM:746.86 +xref: MSH:C535758 +xref: OMIM:234700 +xref: SNOMEDCT_US_2015_03_01:156924006 +xref: SNOMEDCT_US_2015_03_01:204381004 +xref: SNOMEDCT_US_2015_03_01:204382006 +xref: SNOMEDCT_US_2015_03_01:204385008 +xref: SNOMEDCT_US_2015_03_01:46619002 +xref: UMLS_CUI:C0149530 +is_a: DOID:0050820 ! atrioventricular block + +[Term] +id: DOID:9900 +name: protracted reactive paranoid psychosis +synonym: "Psychogenic paranoid psychosis" EXACT [ICD9CM_2006:298.4] +is_obsolete: true + +[Term] +id: DOID:9903 +name: meibomian cyst +def: "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." [url:http\://en.wikipedia.org/wiki/Chalazion] +synonym: "Chalazion" EXACT [ICD9CM_2006:373.2] +synonym: "meibomian gland lipogranuloma" EXACT [] +xref: ICD10CM:H00.1 +xref: ICD9CM:373.2 +xref: MSH:D017043 +xref: NCI:C26717 +xref: SNOMEDCT_US_2015_03_01:1482004 +xref: SNOMEDCT_US_2015_03_01:155172004 +xref: SNOMEDCT_US_2015_03_01:155173009 +xref: SNOMEDCT_US_2015_03_01:267736000 +xref: SNOMEDCT_US_2015_03_01:397514009 +xref: UMLS_CUI:C0007933 +is_a: DOID:9423 ! blepharitis + +[Term] +id: DOID:9905 +name: follicular mucinosis +synonym: "Alopecia mucinosa" EXACT [SNOMEDCT_2005_07_31:27382006] +xref: ICD10CM:L65.2 +xref: MSH:D000507 +xref: NCI:C82859 +xref: SNOMEDCT_US_2015_03_01:201150001 +xref: SNOMEDCT_US_2015_03_01:27382006 +xref: UMLS_CUI:C0002173 +is_a: DOID:9098 ! sebaceous gland disease + +[Term] +id: DOID:9908 +name: internal hordeolum +xref: ICD10CM:H00.02 +xref: ICD9CM:373.12 +xref: SNOMEDCT_US_2015_03_01:15750009 +xref: SNOMEDCT_US_2015_03_01:397514009 +xref: SNOMEDCT_US_2015_03_01:414521009 +xref: SNOMEDCT_US_2015_03_01:95752007 +xref: UMLS_CUI:C0085690 +is_a: DOID:9909 ! hordeolum + +[Term] +id: DOID:9909 +name: hordeolum +def: "Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." [url:http\://en.wikipedia.org/wiki/Hordeolum] +synonym: "Boil of eyelid" EXACT [SNOMEDCT_2005_07_31:1489008] +synonym: "Furuncle of eyelid" EXACT [MTHICD9_2006:373.13] +synonym: "Stye" EXACT [MTHICD9_2006:373.11] +xref: ICD10CM:H00.01 +xref: MSH:D006726 +xref: SNOMEDCT_US_2015_03_01:1489008 +xref: SNOMEDCT_US_2015_03_01:155172004 +xref: SNOMEDCT_US_2015_03_01:193912000 +xref: SNOMEDCT_US_2015_03_01:193913005 +xref: SNOMEDCT_US_2015_03_01:267736000 +xref: SNOMEDCT_US_2015_03_01:397513003 +xref: SNOMEDCT_US_2015_03_01:74612003 +xref: UMLS_CUI:C0019917 +is_a: DOID:530 ! eyelid disease + +[Term] +id: DOID:9910 +name: central corneal ulcer +synonym: "central corneal ulcer (disorder)" EXACT [SNOMEDCT_2005_07_31:7426009] +xref: ICD10CM:H16.01 +xref: ICD9CM:370.03 +xref: SNOMEDCT_US_2015_03_01:193761009 +xref: SNOMEDCT_US_2015_03_01:7426009 +xref: UMLS_CUI:C0155069 +is_a: DOID:8463 ! corneal ulcer + +[Term] +id: DOID:9911 +name: infected hydrocele +xref: ICD10CM:N43.1 +xref: ICD9CM:603.1 +xref: SNOMEDCT_US_2015_03_01:11666007 +xref: UMLS_CUI:C0156300 +is_a: DOID:9912 ! hydrocele + +[Term] +id: DOID:9912 +name: hydrocele +is_a: DOID:48 ! male reproductive system disease + +[Term] +id: DOID:9913 +name: axillary metastasis +synonym: "metastatic malignant tumor to the Axilla" EXACT [NCI2004_11_17:C35748] +is_obsolete: true + +[Term] +id: DOID:9915 +name: malignant neoplasm of ribs, sternum and clavicle +synonym: "Ca ribs/sternum/clavicle" EXACT [SNOMEDCT_2005_07_31:154496009] +is_obsolete: true + +[Term] +id: DOID:9916 +name: secondary malignant neoplasm to the chest wall +is_obsolete: true + +[Term] +id: DOID:9919 +name: malignant neoplasm of thoracic esophagus +is_obsolete: true + +[Term] +id: DOID:992 +name: Omsk hemorrhagic fever +def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm, url:http\://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php, url:http\://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf] +subset: tick-borne_infectious_disease +xref: ICD10CM:A98.1 +xref: ICD9CM:065.1 +xref: MSH:D006481 +xref: SNOMEDCT_US_2015_03_01:48113006 +xref: UMLS_CUI:C0019103 +is_a: DOID:934 ! viral infectious disease + +[Term] +id: DOID:9923 +name: developmental coordination disorder +def: "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001533.htm] +xref: ICD10CM:F82 +xref: ICD9CM:315.4 +xref: MSH:D019957 +xref: NCI:C92561 +xref: SNOMEDCT_US_2015_03_01:192578006 +xref: SNOMEDCT_US_2015_03_01:27544004 +xref: UMLS_CUI:C0011757 +is_a: DOID:0060038 ! specific developmental disorder + +[Term] +id: DOID:9925 +name: hyperostosis frontalis interna +is_obsolete: true + +[Term] +id: DOID:9929 +name: meningococcal meningitis +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:993 +name: Flavivirus infectious disease +def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses." [url:http\://en.wikipedia.org/wiki/Flavivirus] +is_obsolete: true + +[Term] +id: DOID:9930 +name: primary Neisseriaceae infectious disease +subset: gram-negative_bacterial_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9931 +name: Waterhouse-Friderichsen syndrome +alt_id: DOID:12613 +def: "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." [url:http\://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse] +subset: gram-negative_bacterial_infectious_disease +synonym: "Meningococcal hemorrhagic adrenalitis" EXACT [MTHICD9_2006:036.3] +synonym: "WFS" EXACT [] +xref: MSH:D014884 +xref: NCI:C85225 +xref: SNOMEDCT_US_2015_03_01:154709005 +xref: SNOMEDCT_US_2015_03_01:267484005 +xref: UMLS_CUI:C0043068 +is_a: DOID:9553 ! adrenal gland disease + +[Term] +id: DOID:9935 +name: chronic inflammation of lacrimal passage +xref: ICD10CM:H04.4 +xref: ICD9CM:375.4 +xref: SNOMEDCT_US_2015_03_01:193990009 +xref: SNOMEDCT_US_2015_03_01:193991008 +xref: SNOMEDCT_US_2015_03_01:267653001 +xref: UMLS_CUI:C0155239 +is_a: DOID:1400 ! lacrimal apparatus disease + +[Term] +id: DOID:9936 +name: chronic canaliculitis +xref: ICD10CM:H04.42 +xref: ICD9CM:375.41 +xref: SNOMEDCT_US_2015_03_01:26479009 +xref: UMLS_CUI:C0155240 +is_a: DOID:9935 ! chronic inflammation of lacrimal passage + +[Term] +id: DOID:9937 +name: chronic dacryocystitis +xref: ICD10CM:H04.41 +xref: ICD9CM:375.42 +xref: SNOMEDCT_US_2015_03_01:193990009 +xref: SNOMEDCT_US_2015_03_01:84627005 +xref: UMLS_CUI:C0149506 +is_a: DOID:9935 ! chronic inflammation of lacrimal passage +is_a: DOID:9938 ! dacryocystitis + +[Term] +id: DOID:9938 +name: dacryocystitis +xref: ICD10CM:H04.30 +xref: ICD9CM:375.30 +xref: MSH:D003607 +xref: NCI:C34521 +xref: SNOMEDCT_US_2015_03_01:155183008 +xref: SNOMEDCT_US_2015_03_01:193987003 +xref: SNOMEDCT_US_2015_03_01:193989000 +xref: SNOMEDCT_US_2015_03_01:267738004 +xref: SNOMEDCT_US_2015_03_01:85777005 +xref: UMLS_CUI:C0010930 +is_a: DOID:6970 ! acute inflammation of lacrimal passage + +[Term] +id: DOID:9939 +name: dacryocystocele +synonym: "lacrimal mucocele" EXACT [ICD9CM_2006:375.43] +xref: ICD9CM:375.43 +xref: NCI:C98968 +xref: SNOMEDCT_US_2015_03_01:42758002 +xref: UMLS_CUI:C0155241 +is_a: DOID:9935 ! chronic inflammation of lacrimal passage + +[Term] +id: DOID:9940 +name: Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium +is_obsolete: true + +[Term] +id: DOID:9942 +name: lymph node disease +xref: NCI:C35346 +xref: SNOMEDCT_US_2015_03_01:76616003 +xref: UMLS_CUI:C0272394 +is_a: DOID:75 ! lymphatic system disease + +[Term] +id: DOID:9943 +name: syphilitic episcleritis +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +is_obsolete: true + +[Term] +id: DOID:9945 +name: constant exophthalmos +xref: ICD10CM:H05.24 +xref: ICD9CM:376.31 +xref: SNOMEDCT_US_2015_03_01:194015008 +xref: SNOMEDCT_US_2015_03_01:89907009 +xref: UMLS_CUI:C0155267 +is_a: DOID:930 ! orbital disease + +[Term] +id: DOID:9946 +name: steroid-induced glaucoma +synonym: "Corticosteroid-induced glaucoma" EXACT [ICD9CM_2006:365.3] +xref: ICD9CM:365.3 +xref: SNOMEDCT_US_2015_03_01:1654001 +xref: SNOMEDCT_US_2015_03_01:193550003 +xref: UMLS_CUI:C0339578 +is_a: DOID:1686 ! glaucoma + +[Term] +id: DOID:9948 +name: residual stage corticosteroid-induced glaucoma +xref: ICD9CM:365.32 +xref: SNOMEDCT_US_2015_03_01:193549003 +xref: SNOMEDCT_US_2015_03_01:52519003 +xref: UMLS_CUI:C0339580 +is_a: DOID:9946 ! steroid-induced glaucoma + +[Term] +id: DOID:9952 +name: acute lymphocytic leukemia +def: "A lymphoblastic leukemia that is characterized by over production of lymphoblasts." [url:http\://www.cancer.gov/dictionary?CdrID=46332] +comment: Xref MGI. +subset: DO_cancer_slim +subset: DO_MGI_slim +synonym: "acute lymphoblastic leukemia" EXACT [] +xref: EFO:0000220 +xref: ICD10CM:C91.0 +xref: ICD10CM:C91.00 +xref: ICD9CM:204.0 +xref: NCI:C3167 +xref: OMIM:247640 +xref: OMIM:613065 +xref: OMIM:613067 +xref: OMIM:615545 +xref: ORDO:513 +xref: SNOMEDCT_US_2015_03_01:128822004 +xref: SNOMEDCT_US_2015_03_01:154588002 +xref: SNOMEDCT_US_2015_03_01:190034000 +xref: SNOMEDCT_US_2015_03_01:90151006 +xref: SNOMEDCT_US_2015_03_01:91857003 +xref: UMLS_CUI:C0023449 +is_a: DOID:1037 ! lymphoblastic leukemia + +[Term] +id: DOID:9953 +name: B- and T-cell mixed leukemia +xref: ICD10CM:C95.0 +xref: MSH:D015456 +xref: NCI:C4673 +xref: SNOMEDCT_US_2015_03_01:128818009 +xref: SNOMEDCT_US_2015_03_01:278453007 +xref: UMLS_CUI:C0023464 +is_a: DOID:9952 ! acute lymphocytic leukemia + +[Term] +id: DOID:9954 +name: null-cell leukemia +synonym: "Null cell acute lymphoblastic leukemia (disorder)" EXACT [SNOMEDCT_2005_07_31:277574007] +xref: SNOMEDCT_US_2015_03_01:277574007 +xref: UMLS_CUI:C0023483 +is_a: DOID:9952 ! acute lymphocytic leukemia + +[Term] +id: DOID:9955 +name: hypoplastic left heart syndrome +def: "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart." [url:http\://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome, url:http\://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html] +comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. +subset: DO_MGI_slim +xref: ICD10CM:Q23.4 +xref: ICD9CM:746.7 +xref: MSH:D018636 +xref: NCI:C98894 +xref: OMIM:241550 +xref: OMIM:614435 +xref: SNOMEDCT_US_2015_03_01:62067003 +xref: UMLS_CUI:C0152101 +is_a: DOID:1682 ! congenital heart disease + +[Term] +id: DOID:9957 +name: periostitis +alt_id: DOID:10894 +alt_id: DOID:14496 +alt_id: DOID:9956 +xref: MSH:D010522 +xref: SNOMEDCT_US_2015_03_01:41910004 +xref: UMLS_CUI:C0031111 +is_a: DOID:65 ! connective tissue disease + +[Term] +id: DOID:9958 +name: hemometra +synonym: "Hematometra" EXACT [ICD9CM_2006:621.4] +xref: ICD10CM:N85.7 +xref: ICD9CM:621.4 +xref: MSH:D006409 +xref: SNOMEDCT_US_2015_03_01:38280009 +xref: UMLS_CUI:C0018948 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:9965 +name: toxoplasmosis +alt_id: DOID:13334 +alt_id: DOID:13339 +alt_id: DOID:13344 +def: "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." [url:http\://en.wikipedia.org/wiki/Toxoplasmosis] +synonym: "disseminated toxoplasmosis" EXACT [] +xref: ICD10CM:B58 +xref: ICD10CM:B58.9 +xref: ICD9CM:130 +xref: ICD9CM:130.9 +xref: MSH:D014123 +xref: NCI:C3418 +xref: SNOMEDCT_US_2015_03_01:154423006 +xref: SNOMEDCT_US_2015_03_01:187192000 +xref: SNOMEDCT_US_2015_03_01:187200007 +xref: SNOMEDCT_US_2015_03_01:187515009 +xref: SNOMEDCT_US_2015_03_01:266225001 +xref: SNOMEDCT_US_2015_03_01:276203008 +xref: SNOMEDCT_US_2015_03_01:9399000 +xref: UMLS_CUI:C0040558 +is_a: DOID:2113 ! coccidiosis + +[Term] +id: DOID:9969 +name: carotenemia +synonym: "hypercarotinemia" EXACT [ICD9CM_2006:278.3] +xref: ICD10CM:E67.1 +xref: ICD9CM:278.3 +xref: NCI:C26963 +xref: SNOMEDCT_US_2015_03_01:35487009 +xref: UMLS_CUI:C0154271 +is_a: DOID:0060158 ! acquired metabolic disease + +[Term] +id: DOID:997 +name: uterine inversion +xref: ICD10CM:N85.5 +xref: ICD9CM:665.2 +xref: MSH:D019687 +xref: SNOMEDCT_US_2015_03_01:156232008 +xref: SNOMEDCT_US_2015_03_01:156233003 +xref: SNOMEDCT_US_2015_03_01:199968003 +xref: SNOMEDCT_US_2015_03_01:199971006 +xref: SNOMEDCT_US_2015_03_01:267347009 +xref: SNOMEDCT_US_2015_03_01:27215002 +xref: UMLS_CUI:C0162482 +is_a: DOID:345 ! uterine disease + +[Term] +id: DOID:9970 +name: obesity +comment: OMIM mapping confirmed by DO. [SN]. +xref: EFO:0001073 +xref: ICD10CM:E66.9 +xref: ICD9CM:278.00 +xref: MSH:D009765 +xref: NCI:C3283 +xref: OMIM:601665 +xref: SNOMEDCT_US_2015_03_01:154776002 +xref: SNOMEDCT_US_2015_03_01:190963004 +xref: SNOMEDCT_US_2015_03_01:414915002 +xref: SNOMEDCT_US_2015_03_01:414916001 +xref: SNOMEDCT_US_2015_03_01:5476005 +xref: UMLS_CUI:C0028754 +is_a: DOID:654 ! overnutrition + +[Term] +id: DOID:9971 +name: hypervitaminosis D +xref: ICD10CM:E67.3 +xref: ICD9CM:278.4 +xref: SNOMEDCT_US_2015_03_01:190969000 +xref: SNOMEDCT_US_2015_03_01:27712000 +xref: UMLS_CUI:C1442839 +is_a: DOID:654 ! overnutrition + +[Term] +id: DOID:9972 +name: hypervitaminosis A +xref: ICD10CM:E67.0 +xref: ICD9CM:278.2 +xref: MSH:D006986 +xref: SNOMEDCT_US_2015_03_01:64559002 +xref: UMLS_CUI:C0020579 +is_a: DOID:654 ! overnutrition + +[Term] +id: DOID:9973 +name: substance dependence +def: "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Drug_dependence] +xref: NCI:C35458 +xref: SNOMEDCT_US_2015_03_01:103326000 +xref: SNOMEDCT_US_2015_03_01:255338002 +xref: UMLS_CUI:C0439857 +is_a: DOID:303 ! substance-related disorder + +[Term] +id: DOID:9974 +name: drug dependence +def: "A substance dependence that involves the continued use of drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Drug_dependence] +xref: ICD9CM:304.6 +xref: ICD9CM:304.60 +xref: SNOMEDCT_US_2015_03_01:191859004 +xref: SNOMEDCT_US_2015_03_01:191860009 +xref: SNOMEDCT_US_2015_03_01:191864000 +xref: SNOMEDCT_US_2015_03_01:268644006 +xref: UMLS_CUI:C0029792 +is_a: DOID:9973 ! substance dependence + +[Term] +id: DOID:9975 +name: cocaine dependence +def: "A drug dependence that is a psychological dependency on the regular use of cocaine." [url:http\://en.wikipedia.org/wiki/Cocaine_dependence] +xref: ICD10CM:F14.2 +xref: ICD9CM:304.2 +xref: ICD9CM:304.20 +xref: MSH:D019970 +xref: NCI:C34492 +xref: SNOMEDCT_US_2015_03_01:191829009 +xref: SNOMEDCT_US_2015_03_01:191830004 +xref: SNOMEDCT_US_2015_03_01:191834008 +xref: SNOMEDCT_US_2015_03_01:192254002 +xref: SNOMEDCT_US_2015_03_01:286934009 +xref: SNOMEDCT_US_2015_03_01:31956009 +xref: UMLS_CUI:C0600427 +is_a: DOID:9974 ! drug dependence + +[Term] +id: DOID:9976 +name: heroin dependence +def: "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opioid_dependence] +xref: MSH:D006556 +xref: NCI:C34694 +xref: SNOMEDCT_US_2015_03_01:191817000 +xref: SNOMEDCT_US_2015_03_01:192220003 +xref: SNOMEDCT_US_2015_03_01:231477003 +xref: UMLS_CUI:C0019337 +is_a: DOID:2559 ! opiate dependence + +[Term] +id: DOID:9977 +name: hallucinogen dependence +def: "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Hallucinogenic_drugs] +xref: ICD10CM:F16.2 +xref: ICD9CM:304.5 +xref: ICD9CM:304.50 +xref: NCI:C34657 +xref: SNOMEDCT_US_2015_03_01:191847003 +xref: SNOMEDCT_US_2015_03_01:191848008 +xref: SNOMEDCT_US_2015_03_01:191852008 +xref: SNOMEDCT_US_2015_03_01:268643000 +xref: SNOMEDCT_US_2015_03_01:38247002 +xref: UMLS_CUI:C0018528 +is_a: DOID:9974 ! drug dependence + +[Term] +id: DOID:9978 +name: acute female pelvic peritonitis +xref: ICD10CM:N73.3 +xref: ICD9CM:614.5 +xref: SNOMEDCT_US_2015_03_01:198167003 +xref: SNOMEDCT_US_2015_03_01:198168008 +xref: SNOMEDCT_US_2015_03_01:198170004 +xref: SNOMEDCT_US_2015_03_01:266583006 +xref: SNOMEDCT_US_2015_03_01:85051008 +xref: UMLS_CUI:C0269032 +is_a: DOID:1003 ! pelvic inflammatory disease + +[Term] +id: DOID:998 +name: eosinophilia-myalgia syndrome +synonym: "Eosinophilia myalgia syndrome" EXACT [ICD9CM_2006:710.5] +xref: ICD9CM:710.5 +xref: MSH:D016603 +xref: SNOMEDCT_US_2015_03_01:95416007 +xref: UMLS_CUI:C0085179 +is_a: DOID:999 ! eosinophilia + +[Term] +id: DOID:9986 +name: orbit lymphoma +synonym: "Lymphoma of the orbit" EXACT [NCI2004_11_17:C6244] +synonym: "orbital lymphoma (disorder)" EXACT [SNOMEDCT_2005_07_31:13048006] +xref: MSH:C537131 +xref: NCI:C6244 +xref: SNOMEDCT_US_2015_03_01:13048006 +xref: UMLS_CUI:C0271333 +is_a: DOID:4143 ! orbital cancer + +[Term] +id: DOID:9987 +name: orbit sarcoma +synonym: "orbital sarcoma" EXACT [NCI2004_11_17:C6095] +xref: NCI:C6095 +xref: SNOMEDCT_US_2015_03_01:699354006 +xref: UMLS_CUI:C1335131 +is_a: DOID:4143 ! orbital cancer + +[Term] +id: DOID:9988 +name: tertiary neurosyphilis +def: "A tertiary syphilis that results_in infection located_in brain or located_in spinal cord." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000703.htm] +subset: gram-negative_bacterial_infectious_disease +subset: sexually_transmitted_infectious_disease +synonym: "late neurosyphilis" EXACT [] +xref: ICD10CM:A52.3 +xref: ICD9CM:094 +xref: ICD9CM:094.9 +xref: MSH:D009494 +xref: NCI:C84935 +xref: SNOMEDCT_US_2015_03_01:154384001 +xref: SNOMEDCT_US_2015_03_01:186884004 +xref: SNOMEDCT_US_2015_03_01:186895005 +xref: SNOMEDCT_US_2015_03_01:187356008 +xref: SNOMEDCT_US_2015_03_01:26039008 +xref: SNOMEDCT_US_2015_03_01:266210001 +xref: UMLS_CUI:C0027927 +is_a: DOID:8200 ! tertiary syphilis + +[Term] +id: DOID:9989 +name: metastasis to the orbit +synonym: "metastatic tumor to the orbit" EXACT [NCI2004_11_17:C8556] +synonym: "secondary malignant neoplasm of orbit (disorder)" EXACT [SNOMEDCT_2005_07_31:94453007] +is_obsolete: true + +[Term] +id: DOID:999 +name: eosinophilia +synonym: "Eosinophil count raised" EXACT [SNOMEDCT_2005_07_31:142935007] +synonym: "Eosinophilic leukocytosis" EXACT [MTHICD9_2006:288.3] +xref: ICD10CM:D72.1 +xref: ICD9CM:288.3 +xref: MSH:D004802 +xref: SNOMEDCT_US_2015_03_01:165524009 +xref: SNOMEDCT_US_2015_03_01:191363000 +xref: SNOMEDCT_US_2015_03_01:27955006 +xref: SNOMEDCT_US_2015_03_01:418928000 +xref: UMLS_CUI:C0014457 +is_a: DOID:9500 ! leukocyte disease + +[Term] +id: DOID:9993 +name: hypoglycemia +synonym: "Hypoglycaemia" EXACT [SNOMEDCT_2005_07_31:154691006] +xref: ICD10CM:E16.2 +xref: ICD9CM:251.2 +xref: MSH:D007003 +xref: NCI:C3126 +xref: SNOMEDCT_US_2015_03_01:154691006 +xref: SNOMEDCT_US_2015_03_01:154693009 +xref: SNOMEDCT_US_2015_03_01:190433001 +xref: SNOMEDCT_US_2015_03_01:190436009 +xref: SNOMEDCT_US_2015_03_01:237630007 +xref: SNOMEDCT_US_2015_03_01:271327008 +xref: SNOMEDCT_US_2015_03_01:302866003 +xref: SNOMEDCT_US_2015_03_01:66694000 +xref: UMLS_CUI:C0020615 +is_a: DOID:1428 ! endocrine pancreas disease +is_a: DOID:4194 ! glucose metabolism disease + +[Term] +id: DOID:9995 +name: endocrine and metabolic disturbances specific to the fetus and newborn +is_obsolete: true + +[Term] +id: DOID:9997 +name: peripartum cardiomyopathy +alt_id: DOID:11697 +alt_id: DOID:11980 +synonym: "antepartum peripartum cardiomyopathy" EXACT [] +synonym: "postpartum peripartum cardiomyopathy" EXACT [] +xref: ICD10CM:O90.3 +xref: ICD9CM:674.5 +xref: SNOMEDCT_US_2015_03_01:16253001 +xref: UMLS_CUI:C0877208 +is_a: DOID:12930 ! dilated cardiomyopathy + +[Typedef] +id: complicated_by +name: complicated_by + +[Typedef] +id: composed_of +name: composed_of +def: "Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types." [DO:lh] + +[Typedef] +id: derives_from +name: derives_from +def: "Type of tissue or cell/the source of the material." [DO:lh] + +[Typedef] +id: has_material_basis_in +name: has_material_basis_in + +[Typedef] +id: has_symptom +name: has_symptom + +[Typedef] +id: inheres_in +name: inheres_in + +[Typedef] +id: is_a +name: is_a + +[Typedef] +id: located_in +name: located_in +def: "Anatomical location." [DO:lh] + +[Typedef] +id: occurs_with +name: occurs_with + +[Typedef] +id: part_of +name: part_of + +[Typedef] +id: realized_by +name: realized_by + +[Typedef] +id: realized_by_supression_with +name: realized_by_supression_with + +[Typedef] +id: results_in +name: results_in +def: "Development process/cause and effect/disease progress,process." [DO:lh] + +[Typedef] +id: results_in_formation_of +name: results_in_formation_of +def: "Formation of structure,cancer,etc./cause and effect." [DO:lh] + +[Typedef] +id: transmitted_by +name: transmitted_by +def: "Pathogen is transmitted." [DO:lh] +