Aortic valve disease 2

Preferred Label : Aortic valve disease 2;

Symbol : AOVD2;

CISMeF acronym : AOVD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bicuspid aortic valve; Aortic valve stenosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mothers against decapentaplegic, Drosophila, homolog of, 6 gene (SMAD6, 602931.0001);

Prefixed ID : #614823;

Details

Origin ID

614823;

UMLS CUI

C3542024;

Automatic exact mappings (from CISMeF team)
- Aortic valve stenosis [ICD-11 Category]
- Bicuspid Aortic Valve [NCIt concept]
- Bicuspid aortic valve [PASCAL descriptor]
- Bicuspid aortic valve [ICD-11 Sub-sub category]
- Bicuspidization of aortic valve (procedure) [SNOMED CT concept]
- Congenital insufficiency of aortic valve [ICD-10 Sub-category]
- SMAD6 wt Allele [NCIt concept]
- aortic valve disease 2 [DO Concept]
- aortic valve stenosis [DO Concept]
- bicuspidization of aortic valve [SNOMED Notion]
DO Cross reference
- aortic valve disease 2 [DO Concept]
False automatic mappings
- AORTIC VALVE STENOSIS [WHO-ART Included Term]
- Aortic (valve) stenosis [ICD-10 Sub-category (who)]
- Aortic Valve Stenosis [NCIt concept]
- Aortic valve stenosis [HPO term]
- Aortic valve stenosis [MedDRA Preferred Term]
- Bicuspid aortic valve [HPO term]
- Bicuspid aortic valve [MedDRA Preferred Term]
- Bicuspid aortic valve (disorder) [SNOMED CT concept]
- Stenosis aortic valve [MedDRA LLT]
- aortic valve stenosis [MeSH Descriptor]
- aortic valve stenosis [MeSH concept]
- aortic valve stenosis, nos [SNOMED Notion]
- bicuspid aortic valve [SNOMED Notion]
Genes related to phenotype
- Smad family member 6 [OMIM gene]
HPO term(s)
- Aortic aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Calcification of the aorta [HPO term]
- Coarctation of aorta [HPO term]
ORDO concept(s)
- Bicuspid aortic valve [ORDO Disease]
- Familial bicuspid aortic valve [ORDO Disease]
See also inter- (CISMeF)
- Bicuspid aortic valve [ORDO Disease]
- bicuspid aortic valve [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Aortic valve stenosis (disorder) [SNOMED CT concept]
- Bicuspid Aortic Valve Disease [MeSH Descriptor]
- Familial bicuspid aortic valve [ORDO Disease]
- aortic valve stenosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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