X-Linked Cardiac Valvular Dysplasia

Preferred Label : X-Linked Cardiac Valvular Dysplasia;

NCIt synonyms : X-Linked Myxomatous Valvular Dysplasia; CVD1; Filamin A-Related X-Linked Myxomatous Valvular Dysplasia;

NCIt definition : An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.;

Details

Origin ID

C173469;

UMLS CUI

C0262436;

Currated CISMeF NLP mapping
- Cardiac valvular dysplasia, X-linked [OMIM Phenotype]
- Cardiac valvular dysplasia, X-linked [MeSH concept]
- FLNA-related X-linked myxomatous valvular dysplasia [ORDO Disease]
- Filamin A-related X-linked myxomatous valvular dysplasia (disorder) [SNOMED CT concept]
- X-linked cardiac valvular dysplasia [DO Concept]
- cardiac valvular dysplasia, X-linked [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac valvular dysplasia, X-linked [OMIM Phenotype]
- Cardiac valvular dysplasia, X-linked [MeSH concept]
- Filamin A-related X-linked myxomatous valvular dysplasia (disorder) [SNOMED CT concept]
- cardiac valvular dysplasia, X-linked [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FLNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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