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

• SNOMED CT Concept\Clinical finding (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 (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)
• \Disorder of foetus and/or newborn\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 (disorder)
• \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 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670254013	CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670255014	Congenital disorder of glycosylation type 2o	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670256010	Congenital disorder of glycosylation type IIo	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670257018	Carbohydrate deficient glycoprotein syndrome type IIo	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670258011	Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670259015	CCDC115 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399580010	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399581014	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670253019	Coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670254013	CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670255014	Congenital disorder of glycosylation type 2o	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670256010	Congenital disorder of glycosylation type IIo	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670257018	Carbohydrate deficient glycoprotein syndrome type IIo	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670258011	Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670259015	CCDC115 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399580010	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399581014	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3383141001000110	CCDC115-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837811000241118	syndrome des glycoprotéines déficientes en hydrates de carbone de type IIo	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837821000241113	anomalie congénitale de la glycosylation de type 2o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837831000241110	CDG2O (congenital disorder of glycosylation, type 2o)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837811000241118	syndrome des glycoprotéines déficientes en hydrates de carbone de type IIo	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837821000241113	anomalie congénitale de la glycosylation de type 2o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837831000241110	CDG2O (congenital disorder of glycosylation, type 2o)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383141001000110	CCDC115-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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