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hyperinsulinisme door 'hepatocyte nuclear factor'-4-alfa-deficiëntie (aandoening)
hyperinsulinisme door 'hepatocyte nuclear factor'-4-alfa-deficiëntie
hyperinsulinisme door deficiëntie van 'hepatocyte nuclear factor'-4-alfa
hyperinsulinisme door HNF-4-alfa-deficiëntie
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.
Id717048002
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