Supravalvular aortic stenosis

Preferred Label : Supravalvular aortic stenosis;

Symbol : SVAS;

CISMeF acronym : SVAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Supravalvar aortic stenosis, eisenberg type;

Inheritance : Autosomal dominant;

Prefixed ID : #185500;

Details

Origin ID

185500;

UMLS CUI

C0003499;

Automatic exact mappings (from CISMeF team)
- Congenital supravalvar aortic stenosis [ICD-11 Subcategory]
- ELN wt Allele [NCIt concept]
- Supravalvar aortic stenosis, eisenberg type [MeSH concept]
- elastin [ORDO Gene]
- elastin [HGNC gene]
- supravalvar aortic stenosis, eisenberg type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Stenosis of aorta [ICD-10 Sub-category (who)]
- Supravalvular Aortic Stenosis [NCIt concept]
- Supravalvular aortic stenosis [PASCAL descriptor]
- Supravalvular aortic stenosis [ICD-10 Sub-category]
- Supravalvular aortic stenosis [HPO term]
- Supravalvular aortic stenosis [MedDRA Preferred Term]
- Supravalvular aortic stenosis [ORDO Disease]
- aortic stenosis, supravalvular [MeSH Descriptor]
- aortic stenosis, supravalvular [MeSH concept]
- supravalvular aortic stenosis [DO Concept]
DO Cross reference
- supravalvular aortic stenosis [DO Concept]
Genes related to phenotype
- Elastin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Peripheral arterial stenosis [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonic stenosis [HPO term]
- Supravalvular aortic stenosis [HPO term]
ORDO concept(s)
- Supravalvular aortic stenosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stenosis of aorta [ICD-10 Sub-category (who)]
- Supravalvar aortic stenosis (disorder) [SNOMED CT concept]
- Supravalvular Aortic Stenosis [NCIt concept]
- Supravalvular aortic stenosis [ORDO Disease]
- Supravalvular aortic stenosis [MedDRA Preferred Term]
- Supravalvular aortic stenosis [ICD-10 Sub-category]
- Supravalvular aortic stenosis [HPO term]
- Supravalvular aortic stenosis [PASCAL descriptor]
- aortic stenosis, supravalvular [MeSH Descriptor]
- aortic stenosis, supravalvular [MeSH concept]
- supravalvular aortic stenosis [DO Concept]

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