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 |
| 765051000241114 | syndrome de leucoencéphalopathie avec atteinte du tronc cérébral et de la moelle épinière-élévation des lactates (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 997111000172119 | syndrome de leucoencéphalopathie avec atteinte du tronc cérébral et de la moelle épinière-élévation des lactates | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| 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) | est un(e) (attribut) | leuco-encéphalopathie | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) | localisation d'une constatation (attribut) | Cerebral white matter structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR