autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type II
\|	\|

congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 (aandoening)
	congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8
	congenitaal defect in glycosylering type 2h COG8-CDG congenitaal defect in glycosylering gerelateerd aan COG8
	COG8 congenital disorder of glycosylation
	COG8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type IIh Component of oligomeric golgi complex 8 congenital disorder of glycosylation Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type IIh
	Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.

Id	717774004
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

95428

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