The Orphanet nomenclature of rare diseases (ORPHAcodes) has been recognised as the most appropriate nomenclature for clinical coding of rare diseases in Europe in a dedicated recommendation from the European Commission Expert Group on Rare Diseases (CEGRD, 2014): the European Commission has provided support to Member States to facilitate its implementation at national level.

  • Orphanet nomenclature pack: dedicated to the implementation of the Orphanet nomenclature in Health Information Systems.
  • ORPHAcodes API (Application Program Interface)
  • ORPHAcodes Dataviz: tools providing a human-readable versions of the nomenclature files.
  • SNOMED-CT/Orphanet Map is also available in the bottom of the page “ Rare Diseases and Alignment with Terminologies and Databases“.

Annual release in July – last one in 2024