277894008: congenitaal defect in glycosylering type II (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

\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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carbohydrate-deficient glycoprotein syndrome type II	Is a	Carbohydrate-deficient glycoprotein syndrome	true	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type II	Finding site	Body system structure	false	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type II	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 2a (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 2d (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 2k (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
SLC39A8 congenital disorder of glycosylation	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
COG2-related congenital disorder of glycosylation	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type IIB (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
congenitaal defect in glycosylering type IIa	Is a	False	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
congenitaal defect in glycosylering type IId	Is a	False	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type IIC (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type II	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
414628010	N-Acetylglucosaminyl transferase II deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
414629019	CDG - Carbohydrate-deficient glycoprotein syndrome type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
414630012	Carbohydrate-deficient glycoprotein syndrome type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
670984014	Carbohydrate-deficient glycoprotein syndrome type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5910251000146117	congenitaal defect in glycosylering type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5910261000146119	congenitaal defect in glycosylering type II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5910271000146113	CDG-syndroom type II	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)