deficiency of interleukin-1 receptor antagonist

Preferred Label : deficiency of interleukin-1 receptor antagonist;

MeSH synonym : interleukin 1 receptor antagonist deficiency; deficiency of interleukin 1 receptor antagonist; Deficiency of interleukin-1 receptor antagonist (DIRA); Deficiency of interleukin(IL)-1 receptor antagonist; Osteomyelitis, sterile multifocal, with periostitis and pustulosis;

Details

Origin ID

C557815;

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 [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 the interleukin 1 receptor antagonist [Disease (Nov.)]
MeSH term(s) associated for indexing
- hereditary autoinflammatory diseases [MeSH Descriptor]
- interleukin 1 receptor antagonist protein [MeSH Descriptor]
Record concept(s)
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
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 [NCIt concept]
- 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 the interleukin 1 receptor antagonist [Disease (Nov.)]

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