Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome type II
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Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)
	COG4 congenital disorder of glycosylation
	CDG2J - carbohydrate deficient glycoprotein syndrome type 2J COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type 2j Component of oligomeric golgi complex 4 congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type IIj
	An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
	onderdeel van oligomeer golgi-complex 4 congenitaal defect in glycosylering

Id	718751000
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