| 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 characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. 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. |
| | Id | 783740007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| 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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