Long QT Syndrome 5

Preferred Label : Long QT Syndrome 5;

NCIt synonyms : LQT5;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KCNE1 gene, encoding potassium voltage-gated channel subfamily E member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.;

Détails

Origin ID

C172094;

UMLS CUI

C1867904;

Automatic exact mappings (from CISMeF team)
- potassium voltage-gated channel subfamily E regulatory subunit 1 [ORDO Gene]
- potassium voltage-gated channel subfamily E regulatory subunit 1 [HGNC gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 5 (disorder) [SNOMED CT concept]
- Long qt syndrome 5 [OMIM Phenotype]
- long QT syndrome 5 [DO Concept]
- long qt syndrome 5 [MeSH Supplementary Concept]
- long qt syndrome 5 [MeSH 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 5 [OMIM Phenotype]
- long qt syndrome 5 [MeSH Supplementary Concept]
- long qt syndrome 5 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- KCNE1 Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients