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onderdeel van oligomeer golgi-complex 5 congenitaal defect in glycosylering (aandoening)
onderdeel van oligomeer golgi-complex 5 congenitaal defect in glycosylering
COG5 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIi
Carbohydrate deficient glycoprotein syndrome type IIi
CDG2I - carbohydrate deficient glycoprotein syndrome type IIi
COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation
Component of oligomeric golgi complex 5 congenital disorder of glycosylation
An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental retardation with slow and inarticulate speech, truncal ataxia and mild hypotonia.
Id721100009
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified