Long QT Syndrome 1

Preferred Label : Long QT Syndrome 1;

NCIt synonyms : LQT1; Romano-Ward Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. 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

C85049;

UMLS CUI

C4551647;

Automatic exact mappings (from CISMeF team)
- long QT syndrome [DO Concept]
- long qt syndrome [MeSH Descriptor]
- potassium voltage-gated channel subfamily Q member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Long qt syndrome 1 [OMIM Phenotype]
- Romano Ward syndrome [Disease (Nov.)]
- Romano Ward syndrome [MedDRA LLT]
- Romano-Ward syndrome [MeSH concept]
- Romano-Ward syndrome [ORDO Disease]
- Romano-Ward syndrome (disorder) [SNOMED CT concept]
- long QT syndrome 1 [DO Concept]
- romano-ward syndrome [MeSH Descriptor]
- romano-ward syndrome [SNOMED Notion]
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 1 [OMIM Phenotype]
- Romano Ward syndrome [MedDRA LLT]
- Romano-Ward syndrome (disorder) [SNOMED CT concept]
- romano-ward syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KCNQ1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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