Long QT Syndrome 8

Preferred Label : Long QT Syndrome 8;

NCIt synonyms : Timothy Syndrome; LQT8;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. 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

C142894;

UMLS CUI

C1832916;

Automatic exact mappings (from CISMeF team)
- calcium voltage-gated channel subunit alpha1 C [ORDO Gene]
- long qt syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Long QT syndrome type 8 [ICD-11 More detail]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [DO Concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome (disorder) [SNOMED CT concept]
- timothy syndrome [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 type 8 [ICD-11 More detail]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [DO Concept]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome (disorder) [SNOMED CT concept]
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]
- timothy syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CACNA1C Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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