Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3514489014 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3514490017 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3514491018 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3789587019 | Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3789588012 | Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3514492013 | This disease has characteristics of progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Onset occurs in early childhood. Epilepsy and cognitive decline have also been described. The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Transmission is autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Due to | Deficiency of mitochondrial aspartyl-tRNA synthetase | true | Inferred relationship | Some | 1 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR