gonadal dysgenesis, 46,xy

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;

Détails

Origin ID

D006061;

UMLS CUI

C0018054;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Gonadal dysgenesis, male [HPO term]
- Swyer syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 46,XY Gonadal Dysgenesis [NCIt concept]
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY gonadal dysgenesis [ICD-11 Subcategory]
- 46,XY sex reversal [DO Concept]
- Female with 46, XY karyotype [ICD-10 Sub-category]
- Pure gonadal dysgenesis 46,XY (disorder) [SNOMED CT concept]
- XY Female [NCIt concept]
- XY females (disorder) [SNOMED CT concept]
- gonadal dysgenesis 46 xy [Disease (Nov.)]
- pure gonadal dysgenesis 46,xy [SNOMED Notion]
- xy females [SNOMED Notion]
DO Cross reference
- 46,XY sex reversal [DO Concept]
HPO term
- Gonadal dysgenesis, male [HPO term]
Manual NTBT mappings (CISMeF)
- Gonadal dysgenesis of gynecological interest [ORDO Disease]
- Syndrome associated with hypertrophic cardiomyopathy [ORDO Disease]
- Syndrome with 46,XY disorder of sex development [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
Record concept(s)
- gonadal dysgenesis, 46,XY [MeSH concept]
- swyer syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- 46, XY female [MeSH Supplementary Concept]
- 46, XY sex reversal 5 [MeSH Supplementary Concept]
- 46,XY gonadal dysgenesis, complete or partial, DHH-Related [MeSH Supplementary Concept]
- 46,XY sex reversal 4 [MeSH Supplementary Concept]
- 46,Xy gonadal dysgenesis, complete, Sry-Related [MeSH Supplementary Concept]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH Supplementary Concept]
- adrenal insufficiency, congenital, with 46,Xy sex reversal [MeSH Supplementary Concept]
- agonadism, XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations [MeSH Supplementary Concept]
- alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia [MeSH Supplementary Concept]
- anorchia [MeSH Supplementary Concept]
- genito palato cardiac syndrome [MeSH Supplementary Concept]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH Supplementary Concept]
- kennerknecht vogel syndrome [MeSH Supplementary Concept]
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH Supplementary Concept]
- meacham winn culler syndrome [MeSH Supplementary Concept]
- spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY Gonadal Dysgenesis [NCIt concept]
- 46,XY sex reversal [DO Concept]
- Gonadal dysgenesis, male [HPO term]
- gonadal dysgenesis 46 xy [Disease (Nov.)]
Validated automatic mappings to BTNT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- Complete 46,XY gonadal dysgenesis [ICD-11 More detail]
- Pure gonadal dysgenesis 46,XY (disorder) [SNOMED CT concept]

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