| hyperinsulinisme door 'hepatocyte nuclear factor'-4-alfa-deficiëntie (aandoening) | | hyperinsulinisme door 'hepatocyte nuclear factor'-4-alfa-deficiëntie | | hyperinsulinisme door deficiëntie van 'hepatocyte nuclear factor'-4-alfa
hyperinsulinisme door HNF-4-alfa-deficiëntie
| | Hyperinsulinism due to HNF4A deficiency | | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
| | A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. |
| | Id | 717048002 | | 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 | 263455 |
| 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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