| 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 congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). |
| | Id | 717048002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| 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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