Deficiency of the Interleukin-36 Receptor Antagonist

Preferred Label : Deficiency of the Interleukin-36 Receptor Antagonist;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash.;

Details

Origin ID

C119057;

UMLS CUI

C4759670;

Automatic exact mappings (from CISMeF team)
- Deficiency of interleukin-36 receptor antagonist [ICD-11 More detail]
Currated CISMeF NLP mapping
- DITRA [ORDO Disease]
- DITRA [MedDRA LLT]
- Deficiency of interleukin 36 receptor antagonist (disorder) [SNOMED CT concept]
- Deficiency of the interleukin-36 receptor antagonist [MedDRA Preferred Term]
- Psoriasis 14, pustular [OMIM Phenotype]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- Generalised pustular psoriasis [ICD-11 Sub-sub category]
- Generalized pustular psoriasis [ORDO Disease]
- Generalized pustular psoriasis [ICD-10 Sub-category (who)]
- Generalized pustular psoriasis [ICD-10 Sub-category]
- Generalized pustular psoriasis (disorder) [SNOMED CT concept]
- generalized pustular psoriasis [Disease (Nov.)]
- generalized pustular psoriasis of von zumbush [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DITRA [MedDRA LLT]
- Deficiency of interleukin 36 receptor antagonist (disorder) [SNOMED CT concept]
- Deficiency of the interleukin-36 receptor antagonist [MedDRA Preferred Term]
- Generalized pustular psoriasis [ORDO Disease]
- Generalized pustular psoriasis [ICD-10 Sub-category]
- Generalized pustular psoriasis (disorder) [SNOMED CT concept]
- Psoriasis 14, pustular [OMIM Phenotype]
- generalized pustular psoriasis [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- IL36RN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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