717774004: congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 (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 8 congenital disorder of glycosylation (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Component of oligomeric golgi complex 8 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 8 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 8 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

3322952010 Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323499018 COG8 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323512014 COG8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323513016 Carbohydrate deficient glycoprotein syndrome type IIh en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323514010 Component of oligomeric golgi complex 8 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323515011 Congenital disorder of glycosylation type 2h en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323516012 Congenital disorder of glycosylation type IIh en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13596021000146115 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13596031000146118 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13596041000146114 congenitaal defect in glycosylering type 2h nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13596051000146112 congenitaal defect in glycosylering gerelateerd aan COG8 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13596061000146110 COG8-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3323517015 Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus. 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 8 congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type II	true	Inferred relationship	Some
Component of oligomeric golgi complex 8 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