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\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)\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:

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	Existential restriction modifier (core metadata concept)
Arginine:glycine amidinotransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Arginine:glycine amidinotransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
2995041012	Cerebral creatine deficiency syndrome 3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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
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
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
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