Autosomal dominant hereditary disorder	Autosomal dominant hereditary disorder	Congenital disease	Digestive system hereditary disorder	Digestive system hereditary disorder	Hereditary disorder of endocrine system	Hereditary disorder of endocrine system	Hereditary metabolic disease	Hyperinsulinism	Hyperinsulinism
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Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)
	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.
	hyperinsulinisme door 'hepatocyte nuclear factor'-4-alfa-deficiëntie
	hyperinsulinisme door deficiëntie van 'hepatocyte nuclear factor'-4-alfa hyperinsulinisme door HNF-4-alfa-deficiëntie

Id	717048002
Status	Primitive

Finding site	Endocrine pancreatic structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E16.1
Rule	TRUE
Advice	ALWAYS E16.1
Correlation	SNOMED CT source code to target map code correlation not specified