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

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

Descriptions:

Id Description Lang Type Status Case? Module
414628010 N-Acetylglucosaminyl transferase II deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
414629019 CDG - Carbohydrate-deficient glycoprotein syndrome type II en Synonym Active Entire term case sensitive SNOMED CT core module
414630012 Carbohydrate-deficient glycoprotein syndrome type II en Synonym Active Only initial character case insensitive SNOMED CT core module
670984014 Carbohydrate-deficient glycoprotein syndrome type II (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

16 descendants. Search Descendants:

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 Existential restriction modifier
Carbohydrate-deficient glycoprotein syndrome type II Finding site Body system structure false Inferred relationship Existential restriction modifier
Carbohydrate-deficient glycoprotein syndrome type II Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Component of oligomeric golgi complex 1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 4 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 7 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 8 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 5 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2a Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2d Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2k Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Solute carrier family 39 member 8 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Coiled-coil domain containing 115 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 2-related congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Transmembrane protein 199 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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