||||||
hyperinsulinisme door glucokinasedeficiëntie (aandoening)
hyperinsulinisme door glucokinasedeficiëntie
hyperinsulinisme door deficiëntie van glucokinase
Hyperinsulinism due to deficiency of glucokinase
Hyperinsulinism due to glucokinase deficiency
A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.
Id717182006
StatusDefined
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE16.1
TermOverige gespecificeerde vormen van hypoglykemie
SNOMED CT to Orphanet simple map79299
SNOMED CT to ICD-10 extended map
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1
CorrelationSNOMED CT source code to target map code correlation not specified