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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 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

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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Reference Sets