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*** Welcome to the Main Orphanet HelpDesk Wiki!

sylmaiOR edited this page Jun 27, 2025 · 6 revisions

To provide a sustainable and homogeneous, standardised support to the Rare Diseases community, a ‘Questions and Answers’ section within GitHub has been developed by the coordinating team based on users’ questions and issues. It aimed to provide standardised and generalised answers among 12 main topics:

  • Orphanet Nomenclature of Rare Diseases- ORPHAcodes,
  • Why an ORPHAcode is not available in my system?
  • The Orphanet classification,
  • Alignments with other terminologies,
  • Good practice Guidelines on Orphanet Nomenclature
  • Orphanet Tools for coders,
  • Education and Communication,
  • Orphanet - ERN collaborations
  • Guidance documents for ORPHAcoding implementation and exploitation
  • ORPHAcodes Technical Implementation
  • Why using the Orphanet Nomenclature of RD (ORPHAcodes) to trace RD diagnosis?

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