238049009: congenitaal defect in glycosylering (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome

\Metabolic disease\Hereditary metabolic 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

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

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

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

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

5910101000146114 congenitaal defect in glycosylering nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5910111000146111 CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5910121000146118 congenitaal defect in glycosylering (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carbohydrate-deficient glycoprotein syndrome	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Carbohydrate-deficient glycoprotein syndrome	Finding site	Body system structure	false	Inferred relationship	Some

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

Reference Sets