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congenitaal defect van glycosylering type 2m (aandoening)
congenitaal defect van glycosylering type 2m
SLC35A2-CDG
CDG-syndroom type IIm
CDG2M
Solute carrier family 35 member A2 congenital disorder of glycosylation
Congenital disorder of glycosylation type 2m
SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation
CDG2M - congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.
Id771516000
StatusPrimitive
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