718751000: Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG4 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG4 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG4 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG4 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313726016	Carbohydrate deficient glycoprotein syndrome type 2j	en	Synonym	Active	Case insensitive	SNOMED CT core
3313727013	Carbohydrate deficient glycoprotein syndrome type IIj	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3313733016	CDG2J - carbohydrate deficient glycoprotein syndrome type 2J	en	Synonym	Active	Case sensitive	SNOMED CT core
3324359011	Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324360018	Component of oligomeric golgi complex 4 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3324361019	COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3324362014	COG4 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3313734010	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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