Long QT Syndrome 7

Preferred Label : Long QT Syndrome 7;

NCIt synonyms : Andersen-Tawil syndrome; ATS; Andersen Syndrome; LQT7;

NCIt definition : A subtype of long QT syndrome caused by mutation(s) in the KCNJ2 gene, encoding inward rectifier potassium channel 2. It is characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.;

Détails

Origin ID

C84559;

UMLS CUI

C1563715;

Currated CISMeF NLP mapping
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen cardiodysrhythmic periodic paralysis [OMIM Phenotype]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Andersen-Tawil syndrome [ORDO Disease]
- Long QT syndrome 7 [MedDRA LLT]
- Long QT syndrome type 7 [ICD-11 More detail]
- andersen syndrome [MeSH Descriptor]
- andersen syndrome [MeSH concept]
- long QT syndrome type 7 [Disease (Nov.)]
DO Cross reference
- Andersen-Tawil syndrome [DO 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)
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen cardiodysrhythmic periodic paralysis [OMIM Phenotype]
- Andersen-Tawil syndrome [ORDO Disease]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Long QT syndrome 7 [MedDRA LLT]
- andersen syndrome [MeSH concept]
- andersen syndrome [MeSH Descriptor]
- long QT syndrome type 7 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- KCNJ2 Gene [NCIt concept]

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

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