Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498694013 | Early-onset Lafora body disease (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498695014 | Early-onset Lafora body disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5403718017 | A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403719013 | A rare genetic progressive myoclonic epilepsy characterised by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset Lafora body disease (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset Lafora body disease (disorder) | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Early-onset Lafora body disease (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Early-onset Lafora body disease (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Early-onset Lafora body disease (disorder) | Associated morphology | Lafora body | true | Inferred relationship | Some | 2 | |
| Early-onset Lafora body disease (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| Early-onset Lafora body disease (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
| Early-onset Lafora body disease (disorder) | Is a | Childhood seizure | false | Inferred relationship | Some | ||
| Early-onset Lafora body disease (disorder) | Interprets | Movement | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR