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36799008: Glutamate-cysteine ligase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Glutamate-cysteine ligase deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutamate-cysteine ligase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glutamate-cysteine ligase deficiency (disorder)
\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\Glutamate-cysteine ligase deficiency (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Glutamate-cysteine ligase deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Glutamate-cysteine ligase 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-cysteine ligase deficiency (disorder)	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency (disorder)	Is a	Enzymopathy	false	Inferred relationship	Some
Glutamate-cysteine ligase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Glutamate-cysteine ligase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Glutamate-cysteine ligase deficiency (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	False	Glutamate-cysteine ligase deficiency (disorder)	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	False	Glutamate-cysteine ligase deficiency (disorder)	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Due to	True	Glutamate-cysteine ligase deficiency (disorder)	Inferred relationship	Some	5

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
61384015	Glutamate-cysteine ligase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
197231019	Gamma-glutamylcysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486552015	Gamma-glutamyl cysteine synthase 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
2476690017	Deficiency of glutamate-cysteine ligase	en	Synonym (core metadata concept)	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)	Belgian module (core metadata concept)
992911000172115	déficit en glutamate-cystéine ligase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
938001000172113	glutamaat-cysteïneligasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
980761000172115	gamma-glutamylcysteïnesynthetasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)