723624008: congenitaal defect in glycosylering type IIf (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\Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)
\Metabolic disease\Disorder of pyrimidine metabolism\Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)

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

3425313015 Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425314014 Solute carrier family 35 member A1 congenital disorder of glycosylation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425315010 SLC35A1 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425316011 CMP-sialic acid transporter deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425317019 Carbohydrate deficient glycoprotein syndrome type IIf en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425318012 Congenital disorder of glycosylation type 2f en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425319016 Congenital disorder of glycosylation type IIf en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425322019 SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

9969371000146119 congenitaal defect in glycosylering type IIf (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969381000146117 CDG-syndroom type IIf nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969391000146115 CDG-IIf nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969401000146117 congenitaal defect in glycosylering type IIf nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969411000146115 SLC35A1-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969421000146113 CDG2F nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9969431000146110 CMP-sialinezuurtransporterdeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3425320010 An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425321014 An extremely rare form of carbohydrate deficient glycoprotein syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. 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
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Some
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome	true	Inferred relationship	Some
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets