Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2018. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3514496011 | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3514497019 | Deficiency of mitochondrial aspartyl-tRNA synthetase | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3514498012 | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase | Is a | Specific enzyme deficiency | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Due to | True | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase | Inferred relationship | Existential restriction modifier | 1 |
This concept is not in any reference sets
FHIR