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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.
Id721234004
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map324575
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