238049009: Carbohydrate-deficient glycoprotein syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome

\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome

\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome

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

3036810012 Carbohydrate deficiency glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037759010 Carbohydrate deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356827017 Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356828010 CDG - Carbohydrate-deficient glycoprotein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3760400018 Congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626877012 Carbohydrate-deficient glycoprotein syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Jarcho-Levin syndrome	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
POGLUT1-related limb girdle muscular dystrophy R21	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome (disorder)	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type I	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type II	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type III	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	est un(e) (attribut)	True	Carbohydrate-deficient glycoprotein syndrome	Inferred relationship	Some

Reference Sets

Canada French language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)