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 |
| 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 |
| 6713791000146117 | syndroom van leukencefalopathie met betrokkenheid van hersenstam en ruggenmerg en hoog lactaatgehalte (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6713801000146118 | syndroom van leukencefalopathie met betrokkenheid van hersenstam en ruggenmerg en hoog lactaatgehalte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Due to | Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) | true | Inferred relationship | Some | 1 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR