Jervell and Lange Nielsen Syndrome

Preferred Label : Jervell and Lange Nielsen Syndrome;

NCIt synonyms : JLNS1;

NCIt definition : An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.;

Détails

Origin ID

C84793;

UMLS CUI

C0022387;

Automatic exact mappings (from CISMeF team)
- potassium voltage-gated channel subfamily Q member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Cardioauditory syndrome [ICD-11 More detail]
- Jervell Lange Nielsen syndrome [Disease (Nov.)]
- Jervell and Lange-Nielsen syndrome [PASCAL descriptor]
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
- Jervell and Lange-Nielsen syndrome [MedDRA LLT]
- Jervell and Lange-Nielsen syndrome (disorder) [SNOMED CT concept]
- Jervell and lange-nielsen syndrome 1 [OMIM Phenotype]
- Jervell-Lange Nielsen syndrome [DO Concept]
- Jervell-Lange nielsen syndrome [MeSH Descriptor]
- Jervell-Lange nielsen syndrome [MeSH concept]
- jervell and lange-nielson syndrome [SNOMED Notion]
DO Cross reference
- Jervell-Lange Nielsen 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)
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
- Jervell and Lange-Nielsen syndrome [MedDRA LLT]
- Jervell and Lange-Nielsen syndrome [PASCAL descriptor]
- Jervell and Lange-Nielsen syndrome (disorder) [SNOMED CT concept]
- Jervell and lange-nielsen syndrome 1 [OMIM Phenotype]
- Jervell-Lange Nielsen syndrome [DO Concept]
- Jervell-Lange nielsen syndrome [MeSH concept]
- Jervell-Lange nielsen syndrome [MeSH Descriptor]
- jervell and lange-nielson syndrome [SNOMED Notion]
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
- KCNE1 Gene [NCIt concept]
- KCNQ1 Gene [NCIt concept]

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

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