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 deficiency of glucokinase (disorder)
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.
hyperinsulinisme door glucokinasedeficiëntie
hyperinsulinisme door deficiëntie van glucokinase
Id717182006
StatusDefined
Due toDeficiency of glucokinase
Due toDeficiency of glucokinase
Finding siteEndocrine pancreatic structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1
CorrelationSNOMED CT source code to target map code correlation not specified