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717774004: 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
5401594010 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401595011 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322952010 Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 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 Only initial character 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
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
5401594010 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401595011 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427001001000116 COG8-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835571000241117 syndrome des glycoprotéines déficientes en hydrates de carbone de type IIh fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835581000241115 CDG2H (congenital disorder of glycosylation, type 2h) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835591000241118 anomalie congénitale de la glycosylation de type 2h fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835571000241117 syndrome des glycoprotéines déficientes en hydrates de carbone de type IIh fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835581000241115 CDG2H (congenital disorder of glycosylation, type 2h) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835591000241118 anomalie congénitale de la glycosylation de type 2h fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427001001000116 COG8-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. Is a Carbohydrate-deficient glycoprotein syndrome type II true Inferred relationship Existential restriction modifier (core metadata concept)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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