Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
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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Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
Autosomal dominant hyperinsulinism due to Kir6.2 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, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.
autosomaal dominant hyperinsulinisme door deficiëntie van Kir6.2
autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie
Id717045004
StatusPrimitive
Finding siteEndocrine pancreatic structure
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