718750004: congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 1 (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 1 congenital disorder of glycosylation (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Component of oligomeric golgi complex 1 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 1 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 1 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

3313728015 CDG2G - carbohydrate deficient glycoprotein syndrome type 2G en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313736012 Carbohydrate deficient glycoprotein syndrome type 2g en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313737015 Carbohydrate deficient glycoprotein syndrome type IIg en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323076014 Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323077017 COG1 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324357013 COG1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324358015 Congenital disorder of glycosylation type IIg en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3327884010 Component of oligomeric golgi complex 1 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13586851000146118 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 1 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13586861000146115 congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13590391000146117 congenitaal defect in glycosylering gerelateerd aan COG1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13590401000146119 COG1-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13595931000146111 congenitaal defect in glycosylering type 2g nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3313729011 An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. 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 1 congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type II	true	Inferred relationship	Some
Component of oligomeric golgi complex 1 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