autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type II
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congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 4 (aandoening)
	congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 4
	congenitaal defect in glycosylering type 2j congenitaal defect in glycosylering gerelateerd aan COG4 COG4-CDG
	COG4 congenital disorder of glycosylation
	CDG2J - carbohydrate deficient glycoprotein syndrome type 2J COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type 2j Component of oligomeric golgi complex 4 congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type IIj
	An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.

Id	718751000
Status	Primitive

Occurrence

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

263501

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8
Correlation	SNOMED CT source code to target map code correlation not specified