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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 characterized by 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 type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.
Id783767001
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE16.1
TermOverige gespecificeerde vormen van hypoglykemie
SNOMED CT to Orphanet simple map79643
SNOMED CT to ICD-10 extended map
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified