Gonadal Dysgenesis

Preferred Label : Gonadal Dysgenesis;

NCIt related terms : DYSGENETIC_GONAD;

NCIt definition : A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.;

Alternative definition : NCI-GLOSS: Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome.; NICHD: Anomalous development of the gonads, resulting in reduced hormone production and germ cell numbers. The gonads are completely or partially underdeveloped and comprise mainly fibrous tissue.;

Codes from synonyms : CDR0000539103;

Details

Origin ID

C61420;

UMLS CUI

C0018051;

Currated CISMeF NLP mapping
- 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]
- gonadal dysgenesis [Disease (Nov.)]
- gonadal dysgenesis [DO Concept]
- gonadal dysgenesis [MeSH Descriptor]
- gonadal dysgenesis [MeSH concept]
- gonadal dysgenesis [Radlex concept]
- gonadal dysgenesis syndrome [Radlex concept]
DO Cross reference
- gonadal dysgenesis [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 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]
- gonadal dysgenesis [DO Concept]
- gonadal dysgenesis [Disease (Nov.)]
- gonadal dysgenesis [MeSH concept]
- gonadal dysgenesis [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Follicle-Stimulating Hormone Receptor [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- GCT Medical History Table [NCIt concept]
- GCT Variable Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- FSHR Gene [NCIt concept]
- FSHR wt Allele [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
may_be_associated_disease_of_disease
- Gonadoblastoma [NCIt concept]
- Juvenile Testicular Granulosa Cell Tumor [NCIt concept]
- Ovarian Gonadoblastoma [NCIt concept]
- Testicular Gonadoblastoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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