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NLRC4-related familial cold autoinflammatory syndrome
Disease definition
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.
ORPHA:576349
Classification level: Disorder- Synonym(s):
- FCAS4
- Familial cold autoinflammatory syndrome 4
- NLRC4-related familial cold urticaria
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: D89.8
- OMIM: 616115
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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