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onderdeel van oligomeer golgi-complex 1 congenitaal defect in glycosylering (aandoening)
onderdeel van oligomeer golgi-complex 1 congenitaal defect in glycosylering
COG1 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIg
COG1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation
Component of oligomeric golgi complex 1 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIg
CDG2G - carbohydrate deficient glycoprotein syndrome type 2G
Carbohydrate deficient glycoprotein syndrome type 2g
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Id718750004
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