Vas deferens, congenital bilateral aplasia of

Preferred Label : Vas deferens, congenital bilateral aplasia of;

Symbol : CBAVD;

CISMeF acronym : CAVD; CBAVD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CAVD;

Included titles and symbols : CUAVD; Vas deferens, congenital unilateral aplasia of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, 602421.0005);

Prefixed ID : #277180;

Détails

Origin ID

277180;

UMLS CUI

C0403814;

Automatic exact mappings (from CISMeF team)
- Congenital Bilateral Aplasia of the Vas Deferens [NCIt concept]
- congenital bilateral absence of vas deferens [DO Concept]
Currated CISMeF NLP mapping
- 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]
- congenital bilateral aplasia of vas deferens [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive congenital bilateral absence of vas deferens [DO Concept]
Genes related to phenotype
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Heterogeneous [HPO term]
ORDO concept(s)
- Congenital bilateral absence of vas deferens [ORDO Disease]
See also inter- (CISMeF)
- congenital bilateral absence of vas deferens [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Bilateral Aplasia of the Vas Deferens [NCIt 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]
- congenital bilateral absence of vas deferens [Disease (Nov.)]
- congenital bilateral aplasia of vas deferens [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- congenital absence of vas deferens [Disease (Nov.)]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients