1187174002: Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Coiled-coil domain containing 115 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coiled-coil domain containing 115 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Coiled-coil domain containing 115 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Coiled-coil domain containing 115 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670253019	Coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4670254013	CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4670255014	Congenital disorder of glycosylation type 2o	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670256010	Congenital disorder of glycosylation type IIo	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670257018	Carbohydrate deficient glycoprotein syndrome type IIo	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670258011	Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4670259015	CCDC115 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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