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autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 (aandoening)
autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1
autosomaal dominant hyperinsulinisme door SUR1-deficiëntie
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 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. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.
Id717046003
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