Familial Arrhythmogenic Right Ventricular Dysplasia 5

Preferred Label : Familial Arrhythmogenic Right Ventricular Dysplasia 5;

NCIt synonyms : Arrhythmogenic Right Ventricular Cardiomyopathy 5; ARVD5; ARVC5;

NCIt definition : An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the TMEM43 gene on chromosome 3p25, encoding transmembrane protein 43. It is characterized by ventricular ectopy, left ventricular dilation, heart failure, and early death.;

Details

Origin ID

C173470;

UMLS CUI

C1858379;

Currated CISMeF NLP mapping
- Arrhythmogenic right ventricular dysplasia, familial, 5 [OMIM Phenotype]
- arrhythmogenic right ventricular cardiomyopathy type 5 [Disease (Nov.)]
- arrhythmogenic right ventricular dysplasia 5 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arrhythmogenic right ventricular dysplasia, familial, 5 [OMIM Phenotype]
- arrhythmogenic right ventricular cardiomyopathy type 5 [Disease (Nov.)]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 5 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TMEM43 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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