| autosomaal dominant hyperinsulinisme door deficiëntie van Kir6.2 (aandoening) | | autosomaal dominant hyperinsulinisme door deficiëntie van Kir6.2 | | autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie
| | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism). |
| | Id | 717045004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 276580 |
| 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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