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36799008: 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:

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
61384015 Glutamate-cysteine ligase deficiency en Synonym (core metadata concept) Active Only initial character 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
197231019 Gamma-glutamylcysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
3426851001000112 Glutamat-Cystein-Ligase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929901000172119 déficit en gamma-glutamylcystéine synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992911000172115 déficit en glutamate-cystéine ligase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929901000172119 déficit en gamma-glutamylcystéine synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992911000172115 déficit en glutamate-cystéine ligase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426851001000112 Glutamat-Cystein-Ligase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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