| diazoxideresistent focaal hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 (aandoening) | | diazoxideresistent focaal hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 | | diazoxideresistente focale hyperinsulinemie door SUR1-deficiëntie
| | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency
| | 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 SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, 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 homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
| | Id | 783740007 | | 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 | 276598 |
| 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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