Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency

Preferred Label : Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency;

ICD-11 definition : DIRA is a monogenic autoinflammatory disease associated with mutations in the gene coding for IL1 receptor antagonist.;

ICD-11 synonym : DIRA - [deficiency of interleukin 1 receptor antagonist]; deficiency of interleukin 1 receptor antagonist; Sterile multifocal osteomyelitis with periostitis and pustulosis;

ICD-11 acronym : DIRA;

Détails

Origin ID

1499483400;

Currated CISMeF NLP mapping
- Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis [OMIM Phenotype]
- DIRA [MedDRA LLT]
- Deficiency of the Interleukin-1 Receptor Antagonist [NCIt concept]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- IL1RN wt Allele [NCIt concept]
- 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.)]

Position du mot-clé dans l'(les) arborescence(s) :

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