Long QT Syndrome 3

Preferred Label : Long QT Syndrome 3;

NCIt synonyms : LQT3;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.;

Details

Origin ID

C137959;

UMLS CUI

C1859062;

Automatic exact mappings (from CISMeF team)
- Long QT syndrome type 3 [ICD-11 More detail]
- long qt syndrome [MeSH Descriptor]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- sodium voltage-gated channel alpha subunit 5 [HGNC gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 3 [MeSH concept]
- Long QT syndrome type 3 (disorder) [SNOMED CT concept]
- Long qt syndrome 3 [OMIM Phenotype]
- long QT syndrome 3 [DO Concept]
- long QT syndrome type 3 [MeSH Supplementary Concept]
- long QT syndrome type 3 [Disease (Nov.)]
- long qt syndrome 3 [MeSH concept]
- long qt syndrome 3 [MeSH Supplementary Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long qt syndrome 3 [OMIM Phenotype]
- long QT syndrome 3 [DO Concept]
- long qt syndrome 3 [MeSH Supplementary Concept]
- long qt syndrome 3 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SCN5A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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