277894008: Carbohydrate-deficient glycoprotein syndrome type II (disorder)

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

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

\Congenital disease (disorder)\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:

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

790051000052118 kolhydratfattigt glykoproteinsyndrom, typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

This concept is not in any reference sets