702440000: Cerebral creatine deficiency syndrome 3 (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Arginine:glycine amidinotransferase deficiency

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

2995041012 Cerebral creatine deficiency syndrome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995201013 Arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995208019 L-arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995231019 Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995424016 Cerebral creatine deficiency syndrome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5775711000241115 syndrome de déficit cérébral en créatine de type III fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5775721000241110 déficit en arginine-glycine amidinotransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3437661001000114 L-Arginin:Glycin-Amidinotransferase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arginine:glycine amidinotransferase deficiency	Is a	Disorder of creatine synthesis	true	Inferred relationship	Some
Arginine:glycine amidinotransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Arginine:glycine amidinotransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

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Reference Sets

Description inactivation indicator reference set