124239003: Deficiency of guanidinoacetate methyltransferase (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Deficiency of guanidinoacetate methyltransferase

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of creatine synthesis\Deficiency of guanidinoacetate methyltransferase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Deficiency of guanidinoacetate methyltransferase
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of creatine synthesis\Deficiency of guanidinoacetate methyltransferase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of guanidinoacetate methyltransferase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of guanidinoacetate methyltransferase	Is a	Deficiency of transferase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate methyltransferase	Is a	Disorder of creatine synthesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate methyltransferase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate methyltransferase	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
203821017	Deficiency of guanidinoacetate methyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473085018	Guanidinoacetate methyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
727759016	Deficiency of guanidinoacetate methyltransferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203821017	Deficiency of guanidinoacetate methyltransferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
203821017	Deficiency of guanidinoacetate methyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473085018	Guanidinoacetate methyltransferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
473085018	Guanidinoacetate methyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
727759016	Deficiency of guanidinoacetate methyltransferase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
727759016	Deficiency of guanidinoacetate methyltransferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438091001000112	Guanidinoacetat-Methyltransferase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4770821000241116	déficit de guanidinoacétate méthyltransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4770821000241116	déficit de guanidinoacétate méthyltransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438091001000112	Guanidinoacetat-Methyltransferase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module