709412006: congenitaal defect in glycosylering type 1C (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 1c (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type 1c (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 1c (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 1c (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3039537015 Carbohydrate deficient glycoprotein syndrome type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3039747015 Congenital disorder of glycosylation type 1c (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3039904012 Congenital disorder of glycosylation type 1c en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040291014 Carbohydrate deficient glycoprotein syndrome type 1c en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
138181000146113 congenitaal defect in glycosylering type 1C (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
526711000146112 congenitaal defect in glycosylering type 1C 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 1c (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1c (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital disorder of glycosylation type 1c (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital disorder of glycosylation type 1c (disorder)	Due to	Deficiency of glucosyltransferase 1	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets