698290008: X-linked creatine deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked creatine deficiency

\Metabolic disease\Metabolic disorder of transport\X-linked creatine deficiency

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

7753211000172117 déficit en transporteur de la créatine lié à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7753221000172110 baisse du taux de transporteur de créatine liée au gène SLC6A8 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4757801000172116 SLC6A8-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4757811000172118 creatinetransporterdeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4757821000172111 X-gebonden creatinetransporterdeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked creatine deficiency	Is a	Metabolic disorder of transport	true	Inferred relationship	Some
X-linked creatine deficiency	Is a	X-linked hereditary disease	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets