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autosomaal dominant hyperinsulinisme door deficiëntie van Kir6.2 (aandoening)
autosomaal dominant hyperinsulinisme door deficiëntie van Kir6.2
autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.
Id717045004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1
CorrelationSNOMED CT source code to target map code correlation not specified