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 |
| 5045353011 | A rare mitochondrial disease with characteristics of 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 |
| 5045354017 | A rare mitochondrial disease with characteristics of 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) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | est un(e) (attribut) | Leukodystrophy | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | est un(e) (attribut) | atteinte d'un nerf périphérique | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | évolution clinique (attribut) | Non-progressive | true | Inferred relationship | Some | 3 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 4 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | localisation d'une constatation (attribut) | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | morphologie associée (attribut) | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | localisation d'une constatation (attribut) | 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) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR