46,XY Gonadal Dysgenesis

Preferred Label : 46,XY Gonadal Dysgenesis;

NCIt synonyms : Swyer Syndrome;

NCIt definition : Gonadal dysgenesis in an individual with 46.XY karyotype.;

Alternative definition : NICHD: Gonadal dysgenesis in an individual with 46,XY karyotype and female phenotype. There is an increased risk of gonadal tumor.;

Details

Origin ID

C120198;

UMLS CUI

C0018054;

Automatic exact mappings (from CISMeF team)
- Gonadal dysgenesis, male [HPO term]
- Swyer syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 46, XY female [MeSH Supplementary Concept]
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY gonadal dysgenesis [ICD-11 Subcategory]
- 46,XY sex reversal [DO Concept]
- Female with 46, XY karyotype [ICD-10 Sub-category]
- Pure gonadal dysgenesis 46,XY (disorder) [SNOMED CT concept]
- XY females (disorder) [SNOMED CT concept]
- gonadal dysgenesis 46 xy [Disease (Nov.)]
- gonadal dysgenesis, 46,XY [MeSH concept]
- gonadal dysgenesis, 46,xy [MeSH Descriptor]
- pure gonadal dysgenesis 46,xy [SNOMED Notion]
- swyer syndrome [MeSH concept]
- xy females [SNOMED Notion]
DO Cross reference
- 46,XY sex reversal [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY sex reversal [DO Concept]
- Gonadal dysgenesis, male [HPO term]
- gonadal dysgenesis 46 xy [Disease (Nov.)]
- gonadal dysgenesis, 46,XY [MeSH concept]
- gonadal dysgenesis, 46,xy [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- 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]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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