gonadal dysgenesis

Preferred Label : gonadal dysgenesis;

MeSH definition : A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.;

MeSH synonym : dysgenesis, gonadal;

MeSH hyponym : gonadal agenesis;

Wikipedia link : https://en.wikipedia.org/wiki/Gonadal dysgenesis;

Details

Origin ID

D006059;

UMLS CUI

C0018051;

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)
- 46,xy sex reversal 11 [OMIM Phenotype]
- Agonadism [HPO term]
- Gonadal Agenesis [NCIt concept]
- Gonadal agenesis [OMIM Phenotype]
- Testicular regression syndrome [ORDO Disease]
- Testicular regression syndrome (disorder) [SNOMED CT concept]
- testicular regression syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Gonadal Dysgenesis [NCIt concept]
- Gonadal dysgenesis [PASCAL descriptor]
- Gonadal dysgenesis [ICD-9 code]
- Gonadal dysgenesis [HPO term]
- Gonadal dysgenesis [MedDRA Preferred Term]
- Gonadal dysgenesis (disorder) [SNOMED CT concept]
- Gonadal dysgenesis NOS [MedDRA LLT]
- Turner Syndrome [NCIt concept]
- gonadal dysgenesis [Disease (Nov.)]
- gonadal dysgenesis [DO Concept]
- gonadal dysgenesis [Radlex concept]
- gonadal dysgenesis syndrome [Radlex concept]
DO Cross reference
- gonadal dysgenesis [DO Concept]
HPO term
- Gonadal dysgenesis [HPO term]
Manual NTBT mappings (CISMeF)
- Genetic urogenital tract malformation [ORDO Disease]
- Gonadal dysgenesis of gynecological interest [ORDO Disease]
- Non-syndromic urogenital tract malformation of male [ORDO Disease]
- Syndrome with 46,XY disorder of sex development [ORDO Disease]
Record concept(s)
- gonadal agenesis [MeSH concept]
- gonadal dysgenesis [MeSH concept]
Related MeSH Supplementary Concept(s)
- dosage-sensitive sex reversal [MeSH Supplementary Concept]
- immunodeficiency, gonadal dysgenesis, and pulmonary fibrosis [MeSH Supplementary Concept]
- malouf syndrome [MeSH Supplementary Concept]
- ovarian dysgenesis 2 [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Gonadal Dysgenesis [NCIt concept]
- Gonadal dysgenesis [ICD-9 code]
- Gonadal dysgenesis [MedDRA Preferred Term]
- Gonadal dysgenesis [HPO term]
- Gonadal dysgenesis (disorder) [SNOMED CT concept]
- Gonadal dysgenesis NOS [MedDRA LLT]
- gonadal dysgenesis [DO Concept]
- gonadal dysgenesis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Turner syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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