718751000: Component of oligomeric golgi complex 4 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\Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Component of oligomeric golgi complex 4 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\Component of oligomeric golgi complex 4 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\Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313727013	Carbohydrate deficient glycoprotein syndrome type IIj	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313733016	CDG2J - carbohydrate deficient glycoprotein syndrome type 2J	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324359011	Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324360018	Component of oligomeric golgi complex 4 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324361019	COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324362014	COG4 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401845017	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401846016	COG4-CDG is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313726016	Carbohydrate deficient glycoprotein syndrome type 2j	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313726016	Carbohydrate deficient glycoprotein syndrome type 2j	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313727013	Carbohydrate deficient glycoprotein syndrome type IIj	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313733016	CDG2J - carbohydrate deficient glycoprotein syndrome type 2J	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324359011	Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324359011	Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324360018	Component of oligomeric golgi complex 4 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324360018	Component of oligomeric golgi complex 4 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324361019	COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324362014	COG4 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401845017	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401846016	COG4-CDG is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453391001000115	COG4-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905031000241113	CDG2J (congenital disorder of glycosylation, type 2j)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905041000241115	syndrome des glycoprotéines déficientes en hydrates de carbone de type IIj	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905051000241117	anomalie congénitale de la glycosylation de type 2j	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905031000241113	CDG2J (congenital disorder of glycosylation, type 2j)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905041000241115	syndrome des glycoprotéines déficientes en hydrates de carbone de type IIj	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905051000241117	anomalie congénitale de la glycosylation de type 2j	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453391001000115	COG4-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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