Preferred Label : Long QT syndrome type 5;
ICD-11 definition : This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations
in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its
rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome.;
Origin ID : 1160601997;
Currated CISMeF NLP mapping
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations
in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its
rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome.
