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sylmaiOR edited this page Jun 27, 2025 · 18 revisions

Orphacodes

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 8 main topics:

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

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