9128006: Disorder of the gamma-glutamyl cycle (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle

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

16061018 Disorder of the gamma-glutamyl cycle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

834562015 Disorder of the gamma-glutamyl cycle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235649019 Disorder of gamma-glutamyl cycle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3799521000005113 forstyrrelse af gammaglutamyl-cyklussen da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of the gamma-glutamyl cycle	Is a	Disorder of amino acid metabolism	false	Inferred relationship	Some
Disorder of the gamma-glutamyl cycle	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of the gamma-glutamyl cycle	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of the gamma-glutamyl cycle	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glutathione synthase deficiency without 5-oxoprolinuria	Is a	False	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
5-Oxoprolinase deficiency	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	False	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Glutathionemia	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Inborn error of glutathione metabolism	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
Gamma-glutamyl transpeptidase deficiency	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive.	Is a	True	Disorder of the gamma-glutamyl cycle	Inferred relationship	Some

This concept is not in any reference sets