hyperinsulinisme door glucokinasedeficiëntie (aandoening) | | hyperinsulinisme door glucokinasedeficiëntie | | hyperinsulinisme door deficiëntie van glucokinase
| | 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. |
| 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 | 79299 |
SNOMED CT to ICD-10 extended map | Target | E16.1 | Rule | TRUE | Advice | ALWAYS E16.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
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