733451007: congenitaal defect in glycosylering type 1s (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\Congenital disorder of glycosylation type 1s

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Congenital disorder of glycosylation type 1s

\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\Congenital disorder of glycosylation type 1s

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1s

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499453016 Congenital disorder of glycosylation type Is en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499454010 ALG13-CDG (congenital disorder of glycosylation) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499455011 Congenital disorder of glycosylation type 1s en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499456012 Congenital disorder of glycosylation type 1s (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6116991000146116 congenitaal defect in glycosylering type 1s nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117001000146114 congenitaal defect in glycosylering type 1s (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117021000146118 ALG13-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117031000146116 CDG-syndroom type Is nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6117041000146112 CDG-1s nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12652391000146114 aangeboren defect in glycosylering type Is nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3499998015 A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499999011 A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disorder of glycosylation type 1s	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Congenital disorder of glycosylation type 1s	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1s	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1s	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets