459063003: congenitaal defect in glycosylering type 1A (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 Ia (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type Ia (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 Ia (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 Ia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2922250016 Congenital disorder of glycosylation type Ia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2922256010 Congenital disorder of glycosylation type Ia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

138201000146112 congenitaal defect in glycosylering type 1A (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

138211000146114 fosfomannomutase-2-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

138221000146116 congenital disorder of glycosylation type 1a nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

526721000146119 congenitaal defect in glycosylering type 1A 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 Ia (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type Ia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital disorder of glycosylation type Ia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital disorder of glycosylation type Ia (disorder)	Due to	Deficiency of phosphomannomutase 2 (disorder)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets