Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3880144018 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3880145017 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5408858010 | A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408859019 | A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterised by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Inflammatory disorder | false | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Clinical course | Chronic | true | Inferred relationship | Some | 2 | |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Chronic disease of immune structure (disorder) | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Autoinflammatory disease (disorder) | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Is a | Autoimmune disease | true | Inferred relationship | Some | ||
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 4 | |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Finding site | Structure of immune system (body structure) | 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)
FHIR