36799008: Glutamate-cysteine ligase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\déficit en glutamate-cystéine ligase (trouble)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\déficit en glutamate-cystéine ligase (trouble)
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle\déficit en glutamate-cystéine ligase (trouble)
• \trouble métabolique\Inborn error of metabolism\déficit en glutamate-cystéine ligase (trouble)
• \trouble métabolique\Enzymopathy\Specific enzyme deficiency\déficit en glutamate-cystéine ligase (trouble)
• \Congenital disease\Inborn error of metabolism\déficit en glutamate-cystéine ligase (trouble)

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
197231019	Gamma-glutamylcysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2476690017	Deficiency of glutamate-cysteine ligase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
422211000241112	déficit en glutamate-cystéine ligase (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
486552015	Gamma-glutamyl cysteine synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
61384015	Glutamate-cysteine ligase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
768591018	Glutamate-cysteine ligase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
929901000172119	déficit en gamma-glutamylcystéine synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
992911000172115	déficit en glutamate-cystéine ligase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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