Congenital Bilateral Aplasia of the Vas Deferens

Preferred Label : Congenital Bilateral Aplasia of the Vas Deferens;

NCIt synonyms : CAVD;

NCIt definition : An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.;

Détails

Origin ID

C129303;

UMLS CUI

C0403814;

Automatic exact mappings (from CISMeF team)
- Cavity [LOINC System]
- Congenital bilateral absence of vas deferens [ORDO Disease]
- Congenital bilateral aplasia of vas deferens [MeSH concept]
- Congenital bilateral aplasia of vas deferens (disorder) [SNOMED CT concept]
- Vas deferens, congenital bilateral aplasia of [OMIM Phenotype]
- Vas deferens, congenital bilateral aplasia of [OMIM phenotypic series]
- congenital bilateral absence of vas deferens [DO Concept]
- congenital bilateral aplasia of vas deferens [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital bilateral absence of vas deferens [ORDO Disease]
- Congenital bilateral aplasia of vas deferens [MeSH concept]
- Congenital bilateral aplasia of vas deferens (disorder) [SNOMED CT concept]
- Vas deferens, congenital bilateral aplasia of [OMIM Phenotype]
- congenital bilateral absence of vas deferens [Disease (Nov.)]
- congenital bilateral aplasia of vas deferens [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CFTR Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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