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698290008: X-linked creatine deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2973816011 X-linked creatine deficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973817019 SLC6A8 related creatine transporter deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973820010 X-linked creatine deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973824018 Creatine transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2973826016 X-linked creatine deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973816011 X-linked creatine deficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973817019 SLC6A8 related creatine transporter deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973820010 X-linked creatine deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973824018 Creatine transporter deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2973824018 Creatine transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2973826016 X-linked creatine deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430621001000117 Kreatin-Transporter-Mangel, X-chromosomaler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5436301000241117 déficit en transporteur de la créatine lié à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5436301000241117 déficit en transporteur de la créatine lié à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430621001000117 Kreatin-Transporter-Mangel, X-chromosomaler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked creatine deficiency (disorder) Is a Metabolic disorder of transport (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked creatine deficiency (disorder) Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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