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 5 (aandoening)
	congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5
	congenitaal defect in glycosylering gerelateerd aan COG5 COG5-CDG congenitaal defect in glycosylering type 2i
	COG5 congenital disorder of glycosylation
	CDG2I - carbohydrate deficient glycoprotein syndrome type IIi COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation Component of oligomeric golgi complex 5 congenital disorder of glycosylation Congenital disorder of glycosylation type IIi Carbohydrate deficient glycoprotein syndrome type IIi
	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.

Id	721100009
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

263487

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