Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498448019 | Static encephalopathy of childhood with neurodegeneration in adulthood | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498449010 | BPAN - beta-propeller protein-associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498450010 | Beta-propeller protein-associated neurodegeneration (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498451014 | Beta-propeller protein-associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498452019 | Neurodegeneration with brain iron accumulation type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403667010 | Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403668017 | Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterised by early-onset developmental delay and further neurological deterioration in early adulthood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Beta-propeller protein-associated neurodegeneration (disorder) | Is a | Iron overload (disorder) | true | Inferred relationship | Some | ||
Beta-propeller protein-associated neurodegeneration (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
Beta-propeller protein-associated neurodegeneration (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Beta-propeller protein-associated neurodegeneration (disorder) | Causative agent | Iron AND/OR iron compound | false | Inferred relationship | Some | 1 | |
Beta-propeller protein-associated neurodegeneration (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
Beta-propeller protein-associated neurodegeneration (disorder) | Causative agent | Iron and/or iron compound | 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)