Long QT Syndrome 2

Preferred Label : Long QT Syndrome 2;

NCIt synonyms : LQT2;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. 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

C137957;

UMLS CUI

C3150943;

Automatic exact mappings (from CISMeF team)
- long qt syndrome [MeSH Descriptor]
- potassium voltage-gated channel subfamily H member 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 2 [ICD-11 More detail]
- Long QT syndrome type 2 (disorder) [SNOMED CT concept]
- Long qt syndrome 2 [OMIM Phenotype]
- long QT syndrome 2 [DO Concept]
- long QT syndrome type 2 [Disease (Nov.)]
- long qt syndrome 2 [MeSH Supplementary Concept]
- long qt syndrome 2 [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 2 [OMIM Phenotype]
- long QT syndrome 2 [DO Concept]
- long QT syndrome type 2 [Disease (Nov.)]
- long qt syndrome 2 [MeSH Supplementary Concept]
- long qt syndrome 2 [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
- KCNH2 Gene [NCIt concept]

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

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