Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045351013 | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045355016 | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045356015 | Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399970019 | A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399971015 | A rare mitochondrial disease characterised by a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients, and marked recovery of milestones may be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Is a | Peripheral nerve disease | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Clinical course | Non-progressive | true | Inferred relationship | Some | 3 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 4 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR