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hyperinsulinisme door deficiëntie van 'uncoupling protein'-2 (aandoening)
hyperinsulinisme door deficiëntie van 'uncoupling protein'-2
hyperinsulinisme door deficiëntie van ontkoppelingseiwit 2
hyperinsulinisme door UCP-2-deficiëntie
hyperinsulinisme door ontkoppelingseiwit-2-deficiëntie
hyperinsulinisme door 'uncoupling protein'-2-deficiëntie
Hyperinsulinism due to uncoupling protein 2 deficiency
Hyperinsulinism due to UCP2 (uncoupling protein 2) deficiency
Hyperinsulinism due to UCP2 deficiency
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Id721834007
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map276556
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