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New codification system shows promise in accurately identifying rare diseases

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The use of ORPHAcodes, a specific rare disease codification system in 5 European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy), offers hope for a more precise and comprehensive understanding of rare diseases, potentially leading to better healthcare management and more targeted research efforts to improve the lives of those affected by these conditions, according to a study.

Rare diseases have been a challenge for healthcare professionals and researchers due to their under-representation in current coding systems, making it difficult to estimate the number of affected patients and define these diseases accurately. The ORPHAcodes system aimed to address these issues by providing a specialized coding system tailored to rare diseases.

Results of the study indicated that a total of 3133 ORPHAcodes were used to describe rare disease diagnoses across the 5 European countries/regions, with the majority (82.2%) corresponding to the disease or subtype of disease aggregation level within the Orphanet classification. Over half of the ORPHAcodes (53.6%) were used to describe diseases with a very low prevalence, defined as fewer than one case per million individuals.

The ORPHAcodes were particularly effective at capturing rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). Furthermore, these codes demonstrated their superiority in disease description, outperforming corresponding ICD-10 codes in 83.4% of cases.

The study’s authors emphasize the need for further research to assess the impact of ORPHAcoding on the accurate estimation of the number of patients with rare diseases.

Mazzucato M, Pozza LVD, Facchin P, et al. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Orphanet J Rare Dis. 2023;18(1):267. doi: 10.1186/s13023-023-02864-6. PMID: 37667299.