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


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


16 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate-deficient glycoprotein syndrome type II localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type II survenue (attribut) congénital true Inferred relationship Some 1
Carbohydrate-deficient glycoprotein syndrome type II est un(e) (attribut) Carbohydrate-deficient glycoprotein syndrome true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
SLC39A8 congenital disorder of glycosylation est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG2-related congenital disorder of glycosylation est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2d (disorder) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) est un(e) (attribut) 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) est un(e) (attribut) True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some

This concept is not in any reference sets

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