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59761008: Glutamate formiminotransferase deficiency (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

99269017 Glutamate formiminotransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

99270016 FIGLUria en Synonym Active Entire term case sensitive SNOMED CT core module

99271017 Formiminoglutamic aciduria en Synonym Active Entire term case insensitive SNOMED CT core module

498531019 Deficiency of glutamate formiminotransferase en Synonym Active Entire term case insensitive SNOMED CT core module

498532014 Deficiency of glutamate formyltransferase en Synonym Active Entire term case insensitive SNOMED CT core module

798639019 Glutamate formiminotransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutamate formiminotransferase deficiency	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Existential restriction modifier
Glutamate formiminotransferase deficiency	Is a	Disorder of sulfur-bearing amino acid metabolism	true	Inferred relationship	Existential restriction modifier
Glutamate formiminotransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Glutamate formiminotransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Glutamate formiminotransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Glutamate formiminotransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
99269017	Glutamate formiminotransferase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
99270016	FIGLUria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
99271017	Formiminoglutamic aciduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
498531019	Deficiency of glutamate formiminotransferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
498532014	Deficiency of glutamate formyltransferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
798639019	Glutamate formiminotransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module