| Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | | 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. | | diazoxideresistent focaal hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 | | diazoxideresistente focale hyperinsulinemie door SUR1-deficiëntie
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| | Id | 783740007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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