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diazoxideresistent focaal hyperinsulinisme door deficiëntie van Kir6.2 (aandoening)
diazoxideresistent focaal hyperinsulinisme door deficiëntie van Kir6.2
diazoxideresistent focaal hyperinsulinisme door Kir6.2-deficiëntie
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).
Id783741006
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified