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ORPHAcodes use for the coding of rare diseases

by informer
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Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tests the use of a specific RD codification system (ORPHAcodes) in five European countries over the period January 2019-September 2021.

In this study ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases.

ORPHAcodes are found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue. Read the full article here.

 

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