Preferred Label : gonadal dysgenesis, 46,xy;
MeSH definition : Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal
gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN
HORMONE or other factors required for normal male sex development. This leads to the
development of female phenotypes (male to female sex reversal), normal to tall stature,
and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS.
An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME,
a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved
in sex determination.;
MeSH synonym : sex reversal, gonadal, 46, XY; 46, XY gonadal dysgenesis; 46, XY gonadal sex reversal; gonadal dysgenesis, 46, XY;
MeSH hyponym : swyer syndrome; Syndrome, Swyer; Pure Gonadal Dysgenesis 46,XY; 46,XY Complete Gonadal Dysgenesis; XY Pure Gonadal Dysgenesis; Complete Gonadal Dysgenesis, 46, XY; Pure Gonadal Dysgenesis, 46, XY;
Wikipedia link : https://en.wikipedia.org/wiki/Swyer syndrome;
Origin ID : D006061;
UMLS CUI : C0018054;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
HPO term
Manual NTBT mappings (CISMeF)
Record concept(s)
Related MeSH Supplementary Concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal
gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN
HORMONE or other factors required for normal male sex development. This leads to the
development of female phenotypes (male to female sex reversal), normal to tall stature,
and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS.
An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME,
a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved
in sex determination.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=242
2011
false
France
French
gonadal dysgenesis, 46,xy
scientific and technical information
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http://www.em-consulte.com/article/212078
2008
France
journal article
gonadal dysgenesis, 46,xy
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