Familial Arrhythmogenic Right Ventricular Dysplasia 9

Preferred Label : Familial Arrhythmogenic Right Ventricular Dysplasia 9;

NCIt synonyms : ARVD9;

NCIt definition : An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the PKP2 gene on chromosome 12p11, encoding plakophilin 2. It is characterized by right ventricular structural abnormalities and arrhythmias, electrocardiographic depolarization/repolarization changes, and sudden death.;

Détails

Origin ID

C173471;

UMLS CUI

C1836906;

Currated CISMeF NLP mapping
- Arrhythmogenic right ventricular dysplasia, familial, 9 [OMIM Phenotype]
- arrhythmogenic right ventricular dysplasia 9 [DO Concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arrhythmogenic right ventricular dysplasia, familial, 9 [OMIM Phenotype]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH Supplementary Concept]
- arrhythmogenic right ventricular dysplasia, familial, 9 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PKP2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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