Ovotesticular Differences of Sex Development

Preferred Label : Ovotesticular Differences of Sex Development;

NCIt related terms : Ovotesticular DSD; Ovotesticular Disorders of Sex Development; True Hermaphroditism;

Alternative definition : NICHD: Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable.;

Details

Origin ID

C127167;

UMLS CUI

C4288538;

Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to NTBT
- 46,XX ovotesticular difference of sex development [ORDO Disease]
- 46,XX sex reversal 1 [OMIM Phenotype]
- Ovotesticular disorder of sex development [ICD-11 Subcategory]
- Ovotestis (disorder) [SNOMED CT concept]
- True hermaphroditism [HPO term]
- hermaphroditism, true [MeSH concept]
- ovotesticular disorders of sex development [MeSH concept]
- ovotesticular disorders of sex development [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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