Gonadal Agenesis

Preferred Label : Gonadal Agenesis;

NCIt definition : A congenital disorder characterized by the complete absence of gonadal tissue.;

Alternative definition : NICHD: Congenital complete absence of the gonads.;

Details

Origin ID

C27228;

UMLS CUI

C0949331;

Automatic exact mappings (from CISMeF team)
- Agonadism [HPO term]
- gonadal dysgenesis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Gonadal agenesis [OMIM Phenotype]
- gonadal agenesis [MeSH concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Gonadal agenesis [OMIM Phenotype]
- gonadal agenesis [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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