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onderdeel van oligomeer golgi-complex 8 congenitaal defect in glycosylering (aandoening)
onderdeel van oligomeer golgi-complex 8 congenitaal defect in glycosylering
COG8 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIh
Component of oligomeric golgi complex 8 congenital disorder of glycosylation
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
COG8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
Id717774004
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