Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome type II
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Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)
	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
	An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental retardation with slow and inarticulate speech, truncal ataxia and mild hypotonia.
	onderdeel van oligomeer golgi-complex 5 congenitaal defect in glycosylering

Id	721100009
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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