| autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 (aandoening) | | autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 | | autosomaal dominant hyperinsulinisme door SUR1-deficiëntie
| | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
| | A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. |
| | Id | 717046003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 276575 |
| 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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