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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001377
http://purl.bioontology.org/ontology/NDFRT/N0000001377
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|---|---|
| Preferred Name | Gonadal Dysgenesis [Disease/Finding] |
| Synonyms |
Gonadal Dysgenesis
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Gonadal Dysgenesis
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|---|---|
| prefLabel | Gonadal Dysgenesis [Disease/Finding]
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| notation | N0000001377
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| MESH DEFINITION | A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
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| MESH UI | M0009537
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Gonadal Dysgenesis
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID | 205681004
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| tui | T019
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| NUI | N0000001377
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| cui | C0018051
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| MESH DUI | D006059
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| Delete | Subject | Author | Type | Created |
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| No notes to display |