Preferred Label : 45,X/46,XY Mixed Gonadal Dysgenesis;
NCIt related terms : 45,X/46,XY Disorder of Sex Development; 45,X/46,XY Gonadal Dysgenesis; Mixed Gonadal Dysgenesis;
NCIt definition : A congenital condition characterized by asymmetrical gonadal development in an individual
with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed
gonadal dysgenesis.;
Alternative definition : NICHD: Gonadal dysgenesis in an individual with 45,X/46,XY mosaic karyotype with a
variable phenotype. The gonads are dysgenetic and asymmetric, and can comprise elements
of testicular tissue, ovarian tissue, streak gonad, or a combination, such as dysgenetic
testis on one side and streak on the other. There is an increased risk of gonadal
tumor.;
Origin ID : C120199;
UMLS CUI : C0018055;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
- concept_is_in_subset
- disease_has_primary_anatomic_site
