congenitaal defect in glycosylering type II	congenitale neuropathie	epileptische encefalopathie met ontwikkelingsstoornis	hereditaire ontwikkelingsstoornis	hereditaire stoornis van metabolisme van zenuwstelsel	metabole encefalopathie	X-gebonden hereditaire aandoening
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congenitaal defect van glycosylering type 2m (aandoening)
	congenitaal defect van glycosylering type 2m
	CDG2M SLC35A2-CDG CDG-syndroom type IIm
	Solute carrier family 35 member A2 congenital disorder of glycosylation
	CDG2M - congenital disorder of glycosylation type 2m Congenital disorder of glycosylation type IIm Congenital disorder of glycosylation type 2m SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation
	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.

Id	771516000
Status	Primitive

Finding site	structuur van encephalon
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E77.8
Term	Overige gespecificeerde stoornissen van glycoproteïnemetabolisme

SNOMED CT to Orphanet simple map

356961

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified