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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403889012 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403890015 | This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3514489014 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3514490017 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3514491018 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3789587019 | Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3789588012 | Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | 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 |
| 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 | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) | true | Inferred relationship | Some | 1 | |
| 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. | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| 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. | Is a | Congenital disease | true | Inferred relationship | Some | ||
| 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| 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. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 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. | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| 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. | Is a | Central nervous system complication | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR