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277893002: Carbohydrate-deficient glycoprotein syndrome type I (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
414626014 Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
414627017 CDG - Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
670983015 Carbohydrate-deficient glycoprotein syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Is a Carbohydrate-deficient glycoprotein syndrome true Inferred relationship Some
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

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital disorder of glycosylation type Ia (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1c (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
ALG12-congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1f (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1e (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1j (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1r (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1n (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1p 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 (disorder) 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
Congenital disorder of glycosylation type 1y Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital disorder of glycosylation type 1q (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
PGM1-related congenital disorder of glycosylation 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 (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Some

This concept is not in any reference sets

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