18721000146109: congenitaal defect van glycosylering type 1E (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 IE (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation, type IE (disorder)

\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 IE (disorder)

\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 IE (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

155291000146113 Congenital disorder of glycosylation, type IE (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

155301000146112 Congenital disorder of glycosylation, type IE en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

138271000146117 congenitaal defect van glycosylering type 1E (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

138281000146115 congenital disorder of glycosylation type 1e nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

526761000146114 congenitaal defect van glycosylering type 1E nl Synonym (core metadata concept) Active Only initial character 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
Congenital disorder of glycosylation, type IE (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation, type IE (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital disorder of glycosylation, type IE (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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This concept is not in any reference sets