46,XX Gonadal Dysgenesis

Preferred Label : 46,XX Gonadal Dysgenesis;

NCIt synonyms : 46,XX Ovarian Dysgenesis;

NCIt definition : Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype.;

Details

Origin ID

C120197;

UMLS CUI

C0949595;

Automatic exact mappings (from CISMeF team)
- 46,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX gonadal dysgenesis [ORDO Disease]
- 46,XX gonadal dysgenesis [ICD-11 Subcategory]
- Ovarian dysgenesis 1 [OMIM Phenotype]
- Pure gonadal dysgenesis 46,XX (disorder) [SNOMED CT concept]
- gonadal dysgenesis, 46,XX [MeSH concept]
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
- pure gonadal dysgenesis 46,xx [SNOMED Notion]
- pure gonadal dysgenesis, 46, XX [MeSH concept]
DO Cross reference
- 46 XX gonadal dysgenesis [DO 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)
- 46 XX gonadal dysgenesis [DO Concept]
- Ovarian dysgenesis 1 [OMIM Phenotype]
- gonadal dysgenesis, 46,XX [MeSH concept]
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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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