Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3316313012 | Leber plus disease (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3316314018 | Leber plus disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
754161000241117 | maladie de Leber plus (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
878301000172117 | maladie de Leber plus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
985031000172116 | maladie de LHON plus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3316319011 | Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Leber plus disease (disorder) | est un(e) (attribut) | Leber's optic atrophy (disorder) | true | Inferred relationship | Some | ||
Leber plus disease (disorder) | morphologie associée (attribut) | Primary atrophy | true | Inferred relationship | Some | 2 | |
Leber plus disease (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Leber plus disease (disorder) | localisation d'une constatation (attribut) | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Leber plus disease (disorder) | est un(e) (attribut) | Congenital atrophy of optic nerve (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets