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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core
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 (core metadata concept) | SNOMED CT core |
| 3514497019 | Deficiency of mitochondrial aspartyl-tRNA synthetase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3514498012 | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) | Is a | Specific enzyme deficiency | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. | Due to | True | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) | Inferred relationship | Some | 1 |
This concept is not in any reference sets