Deficiency of the Interleukin-1 Receptor Antagonist

Preferred Label : Deficiency of the Interleukin-1 Receptor Antagonist;

NCIt synonyms : Autoinflammatory Disease due to Interleukin-1 Receptor Antagonist Deficiency;

NCIt related terms : DIRA;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.;

Details

Origin ID

C119056;

UMLS CUI

C2748507;

Currated CISMeF NLP mapping
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency [ICD-11 More detail]
- Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis [OMIM Phenotype]
- DIRA [MedDRA LLT]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
- Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) [SNOMED CT concept]
- deficiency of interleukin-1 receptor antagonist [MeSH Supplementary Concept]
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
- deficiency of the interleukin 1 receptor antagonist [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis [OMIM Phenotype]
- DIRA [MedDRA LLT]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
- Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) [SNOMED CT concept]
- deficiency of interleukin-1 receptor antagonist [MeSH Supplementary Concept]
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
- deficiency of the interleukin 1 receptor antagonist [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- IL1RN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients