Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
70121010 | Neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
70122015 | Cerebromacular degeneration | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
70123013 | Cerebromacular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
70124019 | Pigmentary retinal lipoid neuronal heredodegeneration | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
778865010 | Neuronal ceroid lipofuscinosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Neuronal ceroid lipofuscinosis | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
Neuronal ceroid lipofuscinosis | Is a | Lipofuscinosis | true | Inferred relationship | Some | ||
Neuronal ceroid lipofuscinosis | Is a | Degenerative disorder | true | Inferred relationship | Some | ||
Neuronal ceroid lipofuscinosis | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Neuronal ceroid lipofuscinosis | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
Neuronal ceroid lipofuscinosis | Associated morphology | Dystrophy | false | Inferred relationship | Some | ||
Neuronal ceroid lipofuscinosis | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Neuronal ceroid lipofuscinosis | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Neuronal ceroid lipofuscinosis | Is a | Lysosomal storage disease (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Infantile neuronal ceroid lipofuscinosis (disorder) | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
Juvenile neuronal ceroid lipofuscinosis | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
Adult neuronal ceroid lipofuscinosis | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
Neuronal ceroid lipofuscinosis 8 | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Is a | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | |
Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder) | Due to | True | Neuronal ceroid lipofuscinosis | Inferred relationship | Some | 3 |
This concept is not in any reference sets