Calcific aortic disease with immunologic abnormalities, familial

Preferred Label : Calcific aortic disease with immunologic abnormalities, familial;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 114065;

Details

Origin ID

114065;

UMLS CUI

C1861974;

Currated CISMeF NLP mapping
- calcific aortic disease with immunologic abnormalities, familial [MeSH concept]
- calcific aortic disease with immunologic abnormalities, familial [MeSH Supplementary Concept]
HPO term(s)
- Aortic regurgitation [HPO term]
- Aortic valve calcification [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Increased circulating antibody level [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- calcific aortic disease with immunologic abnormalities, familial [MeSH Supplementary Concept]
- calcific aortic disease with immunologic abnormalities, familial [MeSH concept]

Keyword's position in hierarchy(ies) :

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