721100009: congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5 (aandoening)

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 5 congenital disorder of glycosylation (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Component of oligomeric golgi complex 5 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 5 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

3319125016 Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3319128019 COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3319257014 Component of oligomeric golgi complex 5 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3319258016 COG5 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323500010 Carbohydrate deficient glycoprotein syndrome type IIi en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323501014 Congenital disorder of glycosylation type IIi en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323502019 CDG2I - carbohydrate deficient glycoprotein syndrome type IIi en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

13595881000146116 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13595891000146119 congenitaal defect in glycosylering type 2i nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13595901000146118 COG5-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13595911000146116 congenitaal defect in glycosylering gerelateerd aan COG5 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13595921000146114 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5155229010 An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate intellectual disability with slow and inarticulate speech, truncal ataxia and mild hypotonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type II	true	Inferred relationship	Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets