Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3791224013 | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3791225014 | Juvenile parkinsonism, neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3791226010 | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3791227018 | CLN12 disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5484089019 | Neuronal ceroid lipofuscinosis type 12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5484090011 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3791232017 | A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408808015 | A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408809011 | A rare neuronal ceroid lipofuscinosis disorder characterised by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Neuronal ceroid lipofuscinosis | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Parkinsonism | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Finding site | Structure of basal nucleus | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Cerebral degeneration in childhood | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Chronic brain syndrome | false | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Occurrence | Childhood | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Chronic metabolic disorder | false | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Acquired ataxia | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Interprets | Movement | false | Inferred relationship | Some | 7 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Has interpretation | Slow | false | Inferred relationship | Some | 7 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | Chronic disorder of spinal cord (disorder) | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Interprets | Movement observable | true | Inferred relationship | Some | 6 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Has interpretation | Slow | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR