Status: current, Primitive. 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 | Active | Case sensitive | SNOMED CT core |
3791225014 | Juvenile parkinsonism, neuronal ceroid lipofuscinosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
3791226010 | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3791227018 | CLN12 disease | en | Synonym | Active | Case sensitive | 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 | Active | Case sensitive | 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 | Basal ganglion structure | 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 | true | Inferred relationship | Some | ||
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Clinical course | Progressive | 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 | true | 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 | true | Inferred relationship | Some | 7 | |
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Has interpretation | Slow | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set