59761008: Glutamate formiminotransferase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutamate formiminotransferase deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Glutamate formiminotransferase deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency (disorder)
\Metabolic disease\Enzymopathy\Glutamate formiminotransferase deficiency (disorder)

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
Glutamate formiminotransferase deficiency (disorder)	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glutamate formiminotransferase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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
99269017	Glutamate formiminotransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
99270016	FIGLUria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
99271017	Formiminoglutamic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498531019	Deficiency of glutamate formiminotransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498532014	Deficiency of glutamate formyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798639019	Glutamate formiminotransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
99269017	Glutamate formiminotransferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
99269017	Glutamate formiminotransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
99270016	FIGLUria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
99271017	Formiminoglutamic aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
99271017	Formiminoglutamic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498531019	Deficiency of glutamate formiminotransferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498531019	Deficiency of glutamate formiminotransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498532014	Deficiency of glutamate formyltransferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498532014	Deficiency of glutamate formyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798639019	Glutamate formiminotransferase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
798639019	Glutamate formiminotransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3410661001000117	Formiminoglutaminsäure-Azidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4585731000241112	déficit en glutamate-formiminotransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4585731000241112	déficit en glutamate-formiminotransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410661001000117	Formiminoglutaminsäure-Azidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module