| hyperinsulinisme door deficiëntie van 'hepatocyte nuclear factor'-1-alfa (aandoening) | | hyperinsulinisme door deficiëntie van 'hepatocyte nuclear factor'-1-alfa | | hyperinsulinisme door HNF-1-alfa-deficiëntie
hyperinsulinisme door 'hepatocyte nuclear factor'-1-alfa-deficiëntie
| | Hyperinsulinism due to HNF1A deficiency | | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency
| | Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. |
| | Id | 721234004 | | 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 | 324575 |
| SNOMED CT to ICD-10 extended map | | 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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