Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 61384015 | Glutamate-cysteine ligase deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 197231019 | Gamma-glutamylcysteine synthetase deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 486552015 | Gamma-glutamyl cysteine synthase deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 768591018 | Glutamate-cysteine ligase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 2476690017 | Deficiency of glutamate-cysteine ligase | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Glutamate-cysteine ligase deficiency | Is a | Disorder of the gamma-glutamyl cycle | true | Inferred relationship | Existential restriction modifier | ||
| Glutamate-cysteine ligase deficiency | Is a | Enzymopathy | false | Inferred relationship | Existential restriction modifier | ||
| Glutamate-cysteine ligase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Glutamate-cysteine ligase deficiency | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Glutamate-cysteine ligase deficiency | Finding site | Body system structure | false | Inferred relationship | Existential restriction modifier | ||
| Glutamate-cysteine ligase deficiency | Is a | Specific enzyme deficiency | true | Inferred relationship | Existential restriction modifier | ||
| Glutamate-cysteine ligase deficiency | Is a | Inborn error of metabolism | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency | Is a | False | Glutamate-cysteine ligase deficiency | Inferred relationship | Existential restriction modifier | |
| Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency | Associated etiologic finding | False | Glutamate-cysteine ligase deficiency | Inferred relationship | Existential restriction modifier | |
| Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency | Due to | True | Glutamate-cysteine ligase deficiency | Inferred relationship | Existential restriction modifier | 5 |
This concept is not in any reference sets
FHIR