Short answer · Medically reviewed summary · Last updated: 2026-04-07
The International Classification of Diseases, 10th Revision (ICD-10) code for Cryopyrin-associated periodic syndrome (CAPS) is M04.2 (Cryopyrin-associated periodic syndromes). Because CAPS represents a spectrum of autoinflammatory disorders, ICD-9 did not have a unique code, and it was typically categorized under broader terms like 277.89 (Other specified disorders of metabolism) or 710.9 (Unspecified diffuse connective tissue disease). What is the clinical scope of Cryopyrin-associated periodic syndrome? Cryopyrin-associated periodic syndrome is a rare, life-long autoinflammatory disease caused by gain-of-function mutations in the NLRP3 gene.
ICD10 code of Cryopyrin-associated periodic syndrome and ICD9 code
ICD-10 and ICD-9 codes for Cryopyrin-associated periodic syndrome, with classification details for clinicians, coders and patients.
The International Classification of Diseases, 10th Revision (ICD-10) code for Cryopyrin-associated periodic syndrome (CAPS) is M04.2 (Cryopyrin-associated periodic syndromes). Because CAPS represents a spectrum of autoinflammatory disorders, ICD-9 did not have a unique code, and it was typically categorized under broader terms like 277.89 (Other specified disorders of metabolism) or 710.9 (Unspecified diffuse connective tissue disease).
What is the clinical scope of Cryopyrin-associated periodic syndrome?
Cryopyrin-associated periodic syndrome is a rare, life-long autoinflammatory disease caused by gain-of-function mutations in the NLRP3 gene. This condition encompasses a clinical spectrum of three overlapping disorders: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and the most severe form, Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome. Understanding the specific ICD-10 coding for Cryopyrin-associated periodic syndrome is essential for patients navigating insurance coverage, as the classification M04.2 helps clinicians document the systemic nature of this autoinflammatory disorder.
How does the classification of Cryopyrin-associated periodic syndrome impact care?
Because Cryopyrin-associated periodic syndrome is an autoinflammatory rather than an autoimmune condition, it requires specialized management. Proper coding ensures that patients receive access to targeted IL-1 inhibitor therapies, which are the standard of care. With 32 people currently sharing their journey within the DiseaseMaps.org community, we see that early diagnosis is critical to preventing long-term complications, such as sensorineural hearing loss, amyloidosis, and bone deformities associated with the more severe phenotypes of Cryopyrin-associated periodic syndrome.
What are the primary clinical features of the CAPS spectrum?
While the severity varies, individuals living with Cryopyrin-associated periodic syndrome often share core symptoms driven by the overproduction of interleukin-1 beta (IL-1β). Common clinical indicators include:
- Urticaria-like rash: A non-pruritic, migratory rash that often worsens with cold exposure or fatigue.
- Recurrent fevers: Episodic systemic inflammation without evidence of infection.
- Joint involvement: Ranging from mild arthralgia to severe inflammatory arthritis and epiphyseal overgrowth in NOMID.
- Neurological symptoms: Chronic aseptic meningitis, headaches, and papilledema (swelling of the optic disc).
- Ocular and Auditory issues: Conjunctivitis and progressive sensorineural hearing loss.
Is Cryopyrin-associated periodic syndrome hereditary?
Cryopyrin-associated periodic syndrome is inherited in an autosomal dominant pattern, meaning a single copy of the mutated NLRP3 gene is sufficient to cause the disease. However, it is important for families to know that a significant number of cases occur as "de novo" mutations, meaning the child is the first in the family to be affected. Genetic counseling is highly recommended for families affected by Cryopyrin-associated periodic syndrome to discuss recurrence risks and the implications of mutation analysis for siblings and future children.
Next steps
- Consult a rheumatologist or an immunologist who specializes in autoinflammatory diseases.
- Request a genetic consultation to confirm the specific NLRP3 mutation.
- Connect with the 32 other members on DiseaseMaps.org to share experiences regarding treatment efficacy and symptom management.
- Ensure your medical records clearly reflect the ICD-10 code M04.2 to facilitate access to specialty medications.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
References
- Orphanet: Cryopyrin-associated periodic syndrome (ORPHA:101037).
- NIH GARD: Genetic and Rare Diseases Information Center - Cryopyrin-associated periodic syndrome.
- OMIM: Online Mendelian Inheritance in Man - NLRP3-Related Autoinflammatory Disorder (#120100).
- PubMed: Clinical guidelines for the management of autoinflammatory diseases.
