gonadal dysgenesis, 46,xx

Preferred Label : gonadal dysgenesis, 46,xx;

MeSH definition : The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.;

MeSH synonym : gonadal dysgenesis, XX type; gonadal dysgenesis, 46, XX;

MeSH hyponym : pure gonadal dysgenesis, 46, XX; Pure Gonadal Dysgenesis, 46,XX;

Details

Origin ID

D023961;

UMLS CUI

C0949595;

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,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- 46,XX gonadal dysgenesis [ICD-11 Subcategory]
- 46,XX gonadal dysgenesis [ORDO Disease]
- Ovarian dysgenesis 1 [OMIM Phenotype]
- Pure gonadal dysgenesis 46,XX (disorder) [SNOMED CT concept]
- pure gonadal dysgenesis 46,xx [SNOMED Notion]
DO Cross reference
- 46 XX gonadal dysgenesis [DO Concept]
ORDO relation(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
Record concept(s)
- gonadal dysgenesis, 46,XX [MeSH concept]
- pure gonadal dysgenesis, 46, XX [MeSH concept]
Related MeSH Supplementary Concept(s)
- 46,XX gonadal dysgenesis epibulbar dermoid [MeSH Supplementary Concept]
- 46,Xx gonadal dysgenesis, partial or complete, autosomal [MeSH Supplementary Concept]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
- gonadal dysgenesis, hypergonadotropic, XX type, short stature, and recurrent metabolic acidosis [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- Ovarian dysgenesis 1 [OMIM Phenotype]

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