Bicuspid Aortic Valve

Preferred Label : Bicuspid Aortic Valve;

NCIt synonyms : Bicommissural Aortic Valve;

NCIt definition : A genetically heterogenous congenital anomaly in which the aortic valve has two leaflets. It affects 1-2 percent of the population. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.;

Details

Origin ID

C128803;

UMLS CUI

C0149630;

Automatic exact mappings (from CISMeF team)
- Aortic valve disease 2 [OMIM Phenotype]
- Congenital insufficiency of aortic valve [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Aortic valve disease 1 [OMIM Phenotype]
- Bicuspid Aortic Valve Disease [MeSH Descriptor]
- Bicuspid aortic valve [PASCAL descriptor]
- Bicuspid aortic valve [HPO term]
- Bicuspid aortic valve [MedDRA Preferred Term]
- Bicuspid aortic valve [ORDO Disease]
- Bicuspid aortic valve [ICD-11 Sub-sub category]
- Bicuspid aortic valve (disorder) [SNOMED CT concept]
- Bicuspidization of aortic valve (procedure) [SNOMED CT concept]
- bicuspid aortic valve [SNOMED Notion]
- bicuspid aortic valve [Disease (Nov.)]
- bicuspid aortic valve disease [DO Concept]
- bicuspidization of aortic valve [SNOMED Notion]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Bicuspid Aortic Valve Disease [MeSH Descriptor]
- Bicuspid aortic valve [ORDO Disease]
- Bicuspid aortic valve [PASCAL descriptor]
- Bicuspid aortic valve [HPO term]
- Bicuspid aortic valve [MedDRA Preferred Term]
- Bicuspid aortic valve (disorder) [SNOMED CT concept]
- bicuspid aortic valve [SNOMED Notion]
- bicuspid aortic valve [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
related_to_genetic_biomarker
- NOTCH1 Gene [NCIt concept]
- ROBO4 Gene [NCIt concept]
- SMAD6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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