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\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\CCDC115 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CCDC115 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\CCDC115 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\CCDC115 congenital disorder of glycosylation

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670253019	Coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
4670254013	CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4670255014	Congenital disorder of glycosylation type 2o	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670256010	Congenital disorder of glycosylation type IIo	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670257018	Carbohydrate deficient glycoprotein syndrome type IIo	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670258011	Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4670259015	CCDC115 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4670260013	A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia and low serum ceruloplasmin.	en	Definition	Active	Case sensitive	SNOMED CT core
4670261012	A rare congenital disorder of glycosylation characterised by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolaemia and low serum ceruloplasmin.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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