Chronic Infantile Neurological Cutaneous and Articular Syndrome

Preferred Label : Chronic Infantile Neurological Cutaneous and Articular Syndrome;

NCIt synonyms : CINCA/NOMID; CINCA Syndrome;

NCIt related terms : Neonatal-Onset Multisystem Inflammatory Disease; NOMID; CINCA;

NCIt definition : A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation.;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It typically presents during infancy and is characterized by fever, urticarial skin rash, aseptic meningitis, and widened epiphyses.;

Details

Origin ID

C116380;

UMLS CUI

C0409818;

Automatic exact mappings (from CISMeF team)
- NOMID [MedDRA LLT]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
Currated CISMeF NLP mapping
- CINCA Syndrome [DO Concept]
- CINCA syndrome [ORDO Disease]
- CINCA syndrome [PASCAL descriptor]
- CINCA syndrome [MedDRA LLT]
- Chronic infantile neurological cutaneous and articular syndrome [MedDRA Preferred Term]
- Chronic infantile neurological, cutaneous and articular syndrome [ICD-11 More detail]
- Chronic infantile neurological, cutaneous and articular syndrome (disorder) [SNOMED CT concept]
- Cinca syndrome [OMIM Phenotype]
- Neonatal-onset multisystemic inflammatory disease [MedDRA LLT]
- chronic infantile neurological, cutaneous, and articular syndrome [MeSH concept]
- neonatal onset multisystem inflammatory disease [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CINCA Syndrome [DO Concept]
- CINCA syndrome [ORDO Disease]
- CINCA syndrome [PASCAL descriptor]
- CINCA syndrome [MedDRA LLT]
- Chronic infantile neurological cutaneous and articular syndrome [MedDRA Preferred Term]
- Chronic infantile neurological, cutaneous and articular syndrome [ICD-11 More detail]
- Chronic infantile neurological, cutaneous and articular syndrome (disorder) [SNOMED CT concept]
- Cinca syndrome [OMIM Phenotype]
- NOMID [MedDRA LLT]
- Neonatal-onset multisystemic inflammatory disease [MedDRA LLT]
- chronic infantile neurological, cutaneous, and articular syndrome [MeSH concept]
- neonatal onset multisystem inflammatory disease [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- NLRP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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