Jervell-Lange nielsen syndrome

Preferred Label : Jervell-Lange nielsen syndrome;

MeSH definition : A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).;

MeSH synonym : syndrome, jervell-lange nielsen; cardioauditory syndrome of jervell and Lange-Nielsen; Surdo-Cardiac syndromes; Surdo-Cardiac syndrome; surdo cardiac syndrome; syndrome, Surdo-Cardiac; jervell and lange-nielsen syndrome; jervell and lange nielsen syndrome; cardioauditory syndrome of jervell and lange nielsen; prolonged QT interval in EKG and sudden death; deafness, congenital, and functional heart disease; jervell lange nielsen syndrome; Cardio-Auditory-Syncope syndrome; Cardio Auditory Syncope Syndrome; Cardio-Auditory-Syncope Syndromes; Syndrome, Cardio-Auditory-Syncope; Syndromes, Cardio-Auditory-Syncope;

CISMeF synonym : Jervell-Lange Nielsen; nielsen syndrome, jervell-lange; jervell and Lange-Nielsen syndrome 1;

MeSH hyponym : Jervell And Lange Nielsen Syndrome 1;

Wikipedia link : https://en.wikipedia.org/wiki/Jervell and Lange-Nielsen syndrome;

Details

Origin ID

D029593;

UMLS CUI

C0022387;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Jervell and lange-nielsen syndrome [OMIM phenotypic series]
- Long QT syndrome with hearing impairment [ICD-11 More detail]
- Long qt syndrome 1 [OMIM Phenotype]
- Long qt syndrome 2 [OMIM Phenotype]
- Romano-Ward syndrome [ORDO Disease]
- potassium voltage-gated channel subfamily Q member 1 [ORDO Gene]
- potassium voltage-gated channel subfamily Q member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Cardioauditory syndrome [ICD-11 More detail]
- Jervell Lange Nielsen syndrome [Disease (Nov.)]
- Jervell and Lange Nielsen Syndrome [NCIt concept]
- 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 and lange-nielson syndrome [SNOMED Notion]
DO Cross reference
- Jervell-Lange Nielsen syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Timothy syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a voltage-gated potassium channel defect [ORDO Disease]
- Channelopathy due to a voltage-gated sodium channel defect [ORDO Disease]
- Genetic cardiac rhythm disease [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
ORDO relation(s)
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
Record concept(s)
- Jervell And Lange-Nielsen Syndrome 1 [MeSH concept]
- Jervell-Lange nielsen syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- jervell and Lange-Nielsen syndrome 2 [MeSH Supplementary Concept]
See also
- kcnq1 potassium channel [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jervell and Lange Nielsen Syndrome [NCIt 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 and lange-nielson syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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