1197753005: Component of oligomeric golgi complex 2-related 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\COG2-related congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG2-related 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\COG2-related congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG2-related congenital disorder of glycosylation

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697915013	COG2-related congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4697916014	COG2-CDG - component of oligomeric golgi complex 2 - congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4697917017	Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697918010	Component of oligomeric golgi complex 2-related congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
4697919019	A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	en	Definition	Active	Case sensitive	SNOMED CT core
4697920013	A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupraemia and hypoceruloplasminaemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	en	Definition	Active	Case sensitive	SNOMED CT core

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