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

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

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

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

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

Descriptions:

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

Expanded Value Set

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

Inbound Relationships

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This concept is not in any reference sets