Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

Preferred Label : Catecholaminergic Polymorphic Ventricular Tachycardia Type 2;

NCIt synonyms : CPVT2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CASQ2 gene, encoding calsequestrin-2. It is characterized by a relative resting bradycardia and a slight prolongation of the QTc interval. Polymorphic ventricular tachycardia may be induced with exercise stress testing or isoproterenol infusion.;

NCI Metathesaurus CUI : CL550942;

Details

Origin ID

C148368;

UMLS CUI

C2677794;

Currated CISMeF NLP mapping
- Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy [OMIM Phenotype]
- Ventricular tachycardia, catecholaminergic polymorphic, 2 [OMIM Phenotype]
- catecholaminergic polymorphic ventricular tachycardia 2 [Disease (Nov.)]
- catecholaminergic polymorphic ventricular tachycardia 2 [DO Concept]
- stress-induced polymorphic ventricular tachycardia [MeSH concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ventricular tachycardia, catecholaminergic polymorphic, 2 [OMIM Phenotype]
- catecholaminergic polymorphic ventricular tachycardia 2 [Disease (Nov.)]
- stress-induced polymorphic ventricular tachycardia [MeSH concept]
Validated automatic mappings to NTBT
- polymorphic catecholergic ventricular tachycardia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CASQ2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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