Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725847019 | Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725848012 | Interleukin-1 receptor antagonist deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725849016 | OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725850016 | Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725851017 | Sterile multifocal osteomyelitis with periostitis and pustulosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725852012 | A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725853019 | A rare severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Associated morphology | Pustule | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Inflammatory disorder of immune system | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Neonatal dermatosis (disorder) | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Skin lesion | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 4 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Vesicle of skin | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Pustule | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Occurrence | Fetal or neonatal period | false | Inferred relationship | Some | 5 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Disorder involving the integument of fetus OR newborn | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Is a | Autoinflammatory disease (disorder) | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR