Jervell and Lange-Nielsen syndrome

disorder

SNOMED 373905003CUI C0022387

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bilateral congenital sensorineural deafness

Always present (100%)HP:0008527

Bilateral nerve deafness

Very frequent (80-99%)HP:0008619

Profound sensorineural hearing impairment

Very frequent (80-99%)HP:0011476

Prolonged QTc interval

Very frequent (80-99%)HP:0005184

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Loss of consciousness

Frequent (30-79%)HP:0007185

Postexertional malaise

Frequent (30-79%)HP:0030973

Syncope

Frequent (30-79%)HP:0001279

Torsade de pointes

Frequent (30-79%)HP:0001664

Iron-deficiency anaemia

Occasional (5-29%)HP:0001891

Seizures

Occasional (5-29%)HP:0001250

Ventricular fibrillation

Occasional (5-29%)HP:0001663

Long Q-T syndrome

HP:0001657

Sudden cardiac death

HP:0001645

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital heart disease(parent)

Congenital conduction defect(parent)

Congenital long QT syndrome(parent)

Congenital sensorineural hearing loss(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 373905003
UMLS CUI: C0022387
Fully Specified Name: Jervell and Lange-Nielsen syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.