Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5483387018 | Neuronal ceroid lipofuscinosis type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5483388011 | NCL5 - neuronal ceroid lipofuscinosis type 5 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483389015 | CLN5 disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483390012 | Neuronal ceroid lipofuscinosis type 5 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5483391011 | A rare neuronal ceroid lipofuscinosis characterised by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483392016 | A rare neuronal ceroid lipofuscinosis characterized by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neuronal ceroid lipofuscinosis type 5 | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis type 5 | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis type 5 | Is a | Neuronal ceroid lipofuscinosis | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis type 5 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Neuronal ceroid lipofuscinosis type 5 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Neuronal ceroid lipofuscinosis type 5 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Neuronal ceroid lipofuscinosis type 5 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Neuronal ceroid lipofuscinosis type 5 | Finding site | Brain structure | true | 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