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onderdeel van oligomeer golgi-complex 4 congenitaal defect in glycosylering (aandoening)
onderdeel van oligomeer golgi-complex 4 congenitaal defect in glycosylering
COG4 congenital disorder of glycosylation
Component of oligomeric golgi complex 4 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIj
CDG2J - carbohydrate deficient glycoprotein syndrome type 2J
COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type 2j
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
Id718751000
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8
CorrelationSNOMED CT source code to target map code correlation not specified