Cryptorchidism, unilateral or bilateral

Preferred Label : Cryptorchidism, unilateral or bilateral;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Undescended testis;

Description : Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the insulin-like 3 gene (INSL3, 146738.0001);

Prefixed ID : #219050;

Details

Origin ID

219050;

UMLS CUI

C0010417;

Automatic exact mappings (from CISMeF team)
- Cryptorchidism [HPO term]
- Cryptorchidism [MedDRA LLT]
- Structure of undescended testis (body structure) [SNOMED CT concept]
- Undescended Testes [NCIt concept]
- Undescended testicle (disorder) [SNOMED CT concept]
- Undescended testis [ICD-O code]
- Undescended testis [ICD-9 code]
- Undescended testis [ICD-10 Sub-category (who)]
- Undescended testis [MedDRA LLT]
- cryptorchidism [DO Concept]
- cryptorchidism [MeSH Descriptor]
- cryptorchidism [MeSH concept]
- undescended testis [SNOMED Notion]
DO Cross reference
- cryptorchidism [DO Concept]
Genes related to phenotype
- Insulin-like 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Renal agenesis [HPO term]
- Unilateral cryptorchidism [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- CRYPTORCHISM [WHO-ART Preferred Term]
- Cryptorchidism [MedDRA LLT]
- Cryptorchidism [HPO term]
- Cryptorchidism [ICD-11 Category]
- Cryptorchism [MedDRA Preferred Term]
- Maldescended testicle [MedDRA LLT]
- Maldescended testis [MedDRA LLT]
- Testicle maldescended [MedDRA LLT]
- Testicle undescended [MedDRA LLT]
- UNDESCENDED TESTICLE [WHO-ART Included Term]
- Undescended Testes [NCIt concept]
- Undescended testicle [MedDRA LLT]
- Undescended testicle (disorder) [SNOMED CT concept]
- Undescended testicle, bilateral [ICD-11 Subcategory]
- Undescended testicle, unilateral [ICD-11 Subcategory]
- Undescended testicle, unspecified [ICD-10 Sub-category]
- Undescended testis [MedDRA LLT]
- Undescended testis [ICD-9 code]
- cryptorchidism [MeSH Descriptor]
- cryptorchidism [MeSH concept]
- cryptorchidism [DO Concept]
- undescended testicle [ICPC-2 Rubric]
- undescended testis [SNOMED Notion]

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