Long QT Syndrome 11

Preferred Label : Long QT Syndrome 11;

NCIt synonyms : LQT11;

NCIt definition : An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the AKAP9 gene, encoding A-kinase anchor protein 9.;

Details

Origin ID

C192195;

UMLS CUI

C2678483;

Automatic exact mappings (from CISMeF team)
- A-kinase anchoring protein 9 [ORDO Gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 11 (disorder) [SNOMED CT concept]
- Long QT syndrome, type 11 [ICD-11 More detail]
- Long qt syndrome 11 [OMIM Phenotype]
- long QT syndrome 11 [DO Concept]
- long qt syndrome 11 [MeSH Supplementary Concept]
- long qt syndrome 11 [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 11 [OMIM Phenotype]
- long QT syndrome type 11 [Disease (Nov.)]
- long qt syndrome 11 [MeSH Supplementary Concept]
- long qt syndrome 11 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AKAP9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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