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Jervell and Lange-Nielsen syndrome

^ http://www.orpha.net/ORDO/Orphanet_90647


Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

Synonyms: Long QT interval-deafness syndrome

Term info

database cross reference
  • OMIM:612347 (BTNT (broader term maps to a narrower term))
  • OMIM:220400 (E (exact mapping (the terms and the concepts are equivalent)))
  • MedDRA:10057936 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0022387 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:D029593 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:I45.8 (Attributed)
  • ICD-10:I45.8 (NTBT (narrower term maps to a broader term))
hasDbXref

MedDRA:10057936, OMIM:612347, OMIM:220400, MeSH:D029593, UMLS:C0022387, ICD-10:I45.8

notation

ORPHA:90647