Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome type II
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Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)
	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.
	onderdeel van oligomeer golgi-complex 1 congenitaal defect in glycosylering

Id	718750004
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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