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 |
| 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 | 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 | est un(e) (attribut) | ataxie spinocérébelleuse dominante | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | céroïde-lipofuscinose neuronale | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | parkinsonisme | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | localisation d'une constatation (attribut) | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | dégénérescence cérébrale de l'enfance | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | survenue (attribut) | enfance | true | Inferred relationship | Some | 3 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | survenue (attribut) | enfance | true | Inferred relationship | Some | 2 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | est un(e) (attribut) | Acquired ataxia | true | Inferred relationship | Some | ||
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 7 | |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | a pour interprétation (attribut) | lent | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR