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hartritmestoornis gerelateerd aan ankyrine-B (aandoening)
hartritmestoornis gerelateerd aan ankyrine-B
ankyrine-B-syndroom
cardiale aritmie door mutatie in ANK2-gen
Ankyrin-B syndrome
Cardiac arrhythmia ankyrin-B related
Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern.
Id764457005
StatusPrimitive
Finding sitestructuur van hart
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetI49.8
RuleTRUE
AdviceALWAYS I49.8
CorrelationSNOMED CT source code to target map code correlation not specified