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 |
| 1015961000172115 | DIRA - disease due to interleukin-1 receptor antagonist deficiency | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 771941000241115 | ostéomyélite stérile multifocale avec périostéite et pustulose (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 887471000172113 | ostéomyélite stérile multifocale avec périostéite et pustulose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | morphologie associée (attribut) | Pustule | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | 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) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Primary immune deficiency disorder (disorder) | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 3 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | localisation d'une constatation (attribut) | structure du système immunitaire | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Neonatal dermatosis (disorder) | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | 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) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Vesicle of skin (finding) | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | pustule | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | survenue (attribut) | Fetal or neonatal period | false | Inferred relationship | Some | 5 | |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | Disorder involving the integument of fetus OR newborn | false | Inferred relationship | Some | ||
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) | est un(e) (attribut) | 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
Canada English language reference set (foundation metadata concept)
FHIR