33131000146106: congenitaal defect in glycosylering type Ig (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\Carbohydrate-deficient glycoprotein syndrome type Ig (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\Carbohydrate-deficient glycoprotein syndrome type Ig (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

607601000146116 Carbohydrate-deficient glycoprotein syndrome type Ig (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

607611000146119 Carbohydrate-deficient glycoprotein syndrome type Ig en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6463331000146110 congenitaal defect in glycosylering type Ig nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6463341000146119 congenitaal defect in glycosylering type Ig (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6463351000146116 CDG-syndroom type Ig nl Synonym (core metadata concept) Active Entire term case sensitive (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 type Ig (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome type Ig (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets