Orphanet Nomenclature pack available online
The Orphanet nomenclature is used to code the diagnosis of a rare disease with a unique and time-stable identifier, the ORPHAnumber (also named ORPHAcode) in order to facilitate data collection, research and analysis. These files are available here: http://www.orphadata.org/cgi-bin/ORPHAnomenclature.html
They provide the computable information necessary to achieve the implementation of ORPHAnumbers in Health Information Systems, and ensure easier and accurate coding. Orphanet provides a set of files in XML format, including: the Orphanet nomenclature file, the Orphanet ICD-10 mapping file and a directory containing the Orphanet classifications files. These files are generated and made available once a year, in 9 different languages: Czech, Dutch, English, French, German, Italian, Polish, Portuguese and Spanish. The Polish version should be available very soon.
The previous versions and their related change logs remain accessible and downloadable in the dedicated RD-CODE Github repository.