| autosomaal recessief hyperinsulinisme door deficiëntie van Kir6.2 (aandoening) | | autosomaal recessief hyperinsulinisme door deficiëntie van Kir6.2 | | autosomaal recessief hyperinsulinisme door Kir6.2-deficiëntie
| | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
| | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
| | Id | 783768006 | | 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 | 79644 |
| 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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