The objective of the implementing countries (Czech Republic, Malta, Romania and Spain) is to implement ORPHAcodes in Health Information Systems . To achieve this, user-friendly technical resources will be developed and coder training sessions will be organised in order to ensure easier and more accurate coding.
The heterogeneity of contexts and settings within the countries will ease the implementation in other Member States.
A) Regarding the Orphanet Nomenclature:
1) 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.
2) A new Orphanet nomenclature help desk is available in 2019: a unique contact point for codification issues and for data, model and technical issues.
A page with general information on the Orphanet Nomenclature production and maintenance and links for further reading is available: http://www.rd-code.eu/helpdesk/
Moreover a page dedicated to answering questions related to the Orphanet nomenclature content and the implementation of ORPHA codes in Health Information Systems is now avaialble here: http://www.rd-code.eu/github/
For this purpose, an online ticketing system that allows requests to be stored, tracked and made available to others has been set up. This system facilitates an agile and interactive workflow.
Finally a page where can be found tools which will provide the computable information necessary to achieve implementation of ORPHAnumbers in Health Information Systems, and ensure easier and accurate coding is available here: http://www.rd-code.eu/tools/
New services and tools to help decision making and visualise the nomenclature/classification will be delivered soon!
A Frequently Asked Questions will be prepared according to the questions received.
B) Regarding the implementing countries:
WP leader: CIBER
Participants: IHIS, MFH Malta, DSP IASI, FISABIO, Orphanet
European projects can be divided into “work packages” (WP). A work package can be thought of as a sub-project, which, when combined with other work packages, form the completed project.