| 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). |
| | Id | 783741006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E16.1 | | Term | Overige gespecificeerde vormen van hypoglykemie |
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| SNOMED CT to Orphanet simple map | 276603 |
| SNOMED CT to ICD-10 extended map | | Target | E16.1 | | Rule | TRUE | | Advice | ALWAYS E16.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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