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

congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 1 (aandoening)
	congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 1
	congenitaal defect in glycosylering gerelateerd aan COG1 COG1-CDG congenitaal defect in glycosylering type 2g
	COG1 congenital disorder of glycosylation
	Congenital disorder of glycosylation type IIg CDG2G - carbohydrate deficient glycoprotein syndrome type 2G Carbohydrate deficient glycoprotein syndrome type 2g Carbohydrate deficient glycoprotein syndrome type IIg COG1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation Component of oligomeric golgi complex 1 congenital disorder of glycosylation
	An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

Id	718750004
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

263508

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