Preferred Label : gonadal dysgenesis, mixed;
MeSH definition : A type of defective gonadal development in patients with a wide spectrum of chromosomal
mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting
from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include
45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The
spectrum of phenotypes may range from phenotypic female to phenotypic male including
variations in gonads and internal and external genitalia, depending on the ratio in
each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.;
MeSH synonym : mixed gonadal dysgenesis;
Wikipedia link : https://en.wikipedia.org/wiki/Mixed gonadal dysgenesis;
Origin ID : D006060;
UMLS CUI : C0018055;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term
- Manual NTBT mappings (CISMeF)
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
A type of defective gonadal development in patients with a wide spectrum of chromosomal
mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting
from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include
45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The
spectrum of phenotypes may range from phenotypic female to phenotypic male including
variations in gonads and internal and external genitalia, depending on the ratio in
each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
