| autosomaal recessief hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 (aandoening) | | autosomaal recessief hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 | | autosomaal recessieve hyperinsulinemie door SUR1-deficiëntie
| | Autosomal recessive hyperinsulinism due to SUR1 deficiency | | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 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 SUR1 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. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
| | Id | 783767001 | | 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 |
|
| SNOMED CT to Orphanet simple map | 79643 |
| 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 |
|
|
