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 7 (aandoening)
	congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 7
	COG7-CDG congenitaal defect in glycosylering type 2e congenitaal defect in glycosylering gerelateerd aan COG7
	COG7 congenital disorder of glycosylation
	Congenital disorder of glycosylation type IIe COG7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type IIe Component of oligomeric golgi complex 7 congenital disorder of glycosylation Congenital disorder of glycosylation type 2e
	Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

Id	717773005
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

79333

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