36799008: Glutamate-cysteine ligase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Glutamate-cysteine ligase deficiency

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

\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
\Metabolic disease\Inborn error of metabolism\Glutamate-cysteine ligase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Glutamate-cysteine ligase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Glutamate-cysteine ligase 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

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

3331461000052118 brist på glutamatcysteinligas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutamate-cysteine ligase deficiency	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Glutamate-cysteine ligase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	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	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	False	Glutamate-cysteine ligase deficiency	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Due to	True	Glutamate-cysteine ligase deficiency	Inferred relationship	Some	5

This concept is not in any reference sets