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277893002: Carbohydrate-deficient glycoprotein syndrome type I (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
414626014 Carbohydrate-deficient glycoprotein syndrome type I en Synonym Active Initial character case insensitive SNOMED CT core
414627017 CDG - Carbohydrate-deficient glycoprotein syndrome type I en Synonym Active Case sensitive SNOMED CT core
670983015 Carbohydrate-deficient glycoprotein syndrome type I (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate-deficient glycoprotein syndrome type I Occurrence Congenital true Inferred relationship Some 1
Carbohydrate-deficient glycoprotein syndrome type I Finding site Body system structure false Inferred relationship Some
Carbohydrate-deficient glycoprotein syndrome type I Is a Carbohydrate deficient glycoprotein syndrome true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
PGM1-CDG Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1i Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Mannosephosphate isomerase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type Ia Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1c Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG12-congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1m Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG3 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG8 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG9 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1e Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1n Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1s Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1w Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1x Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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