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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
414628010 N-Acetylglucosaminyl transferase II deficiency en Synonym Active Case sensitive SNOMED CT core
414629019 CDG - Carbohydrate-deficient glycoprotein syndrome type II en Synonym Active Case sensitive SNOMED CT core
414630012 Carbohydrate-deficient glycoprotein syndrome type II en Synonym Active Initial character case insensitive SNOMED CT core
670984014 Carbohydrate-deficient glycoprotein syndrome type II (disorder) en Fully specified name Active Initial character case insensitive 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 Finding site Body system structure false Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type II Occurrence Congenital true Inferred relationship Some 1
Carbohydrate-deficient glycoprotein syndrome type II Is a 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 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
CCDC115 congenital disorder of glycosylation 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
TMEM199 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG4 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG7 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG8 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
COG5 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some
MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type II Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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