277893002: congenitaal defect in glycosylering type I (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\Carbohydrate-deficient glycoprotein syndrome type I

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Carbohydrate-deficient glycoprotein syndrome type I caused by glycosyltransferase	Is a	False	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
Congenital disorder of glycosylation, type IE (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
Congenital disorder of glycosylation, type ID (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type Ih (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type Ig (disorder)	Is a	True	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
congenitaal defect in glycosylering type Ii	Is a	False	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some
congenitaal defect in glycosylering type If	Is a	False	Carbohydrate-deficient glycoprotein syndrome type I	Inferred relationship	Some

This concept is not in any reference sets

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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
5910161000146113	congenitaal defect in glycosylering type I	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5910171000146119	congenitaal defect in glycosylering type I (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5910181000146117	CDG-syndroom type I	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6103131000146112	syndroom van Jaeken	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)