702440000: Cerebral creatine deficiency syndrome 3 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Cerebral creatine deficiency syndrome 3
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebral creatine deficiency syndrome 3
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Cerebral creatine deficiency syndrome 3
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of creatine synthesis\Cerebral creatine deficiency syndrome 3
• \Congenital disease\Inborn error of metabolism\Disorder of creatine synthesis\Cerebral creatine deficiency syndrome 3

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995041012	Cerebral creatine deficiency syndrome 3	en	Synonym	Active	Case insensitive	SNOMED CT core
2995201013	Arginine:glycine amidinotransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2995208019	L-arginine:glycine amidinotransferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2995231019	Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2995424016	Cerebral creatine deficiency syndrome 3 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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