46,Xy gonadal dysgenesis, complete, Sry-Related

Preferred Label : 46,Xy gonadal dysgenesis, complete, Sry-Related;

MeSH synonym : gonadal dysgenesis, xy female type;

Origin ID

C567574;

UMLS CUI

C2748896;

Currated CISMeF NLP mapping
- 46,XY sex reversal 1 [DO Concept]
- 46,xy sex reversal 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- gonadal dysgenesis, 46,xy [MeSH Descriptor]
- sex-determining region y protein [MeSH Descriptor]
Record concept(s)
- 46,Xy gonadal dysgenesis, complete, Sry-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY Sex Reversal 1 [NCIt concept]
- 46,xy sex reversal 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY gonadal dysgenesis [ICD-11 Subcategory]