International RD nomenclatures

The EUCERD, through the EUCERD Joint Action, supports the work undertaken by the Rare Diseases Topic Advisory Group (RD TAG), led by the Chair of the EUCERD, to prepare the 11th version of the International Classification of Diseases (ICD-11). This work aims to ensure an exhaustive coding of rare diseases (RD) and an appropriate classification in the framework of the revision process defined by the World Health Organization (WHO) in order to assure the traceability of RD in health information systems.

This work on the revision of the ICD includes:

  • Preparing the alpha draft to be submitted to the WHO via a survey of literature at Orphanet;
  • Reviewing of proposals for RD in ICD by expert groups at International level and negotiating with other Topic Advisory Groups;
  • Annotating of diseases to comply with the content model of ICD11, with incidence and prevalence data, data on mechanism, evolution, aetiology, signs and symptoms;
  • Preparing the beta draft after the public consultation organised by WHO and organising the validation expert groups in the field of RD as well as contributing to field testing organised by WHO.

The standardisation of RD nomenclatures at international level will further be supported by:

  • Promoting the use of Orphanet nomenclature which serves as a template for ICD11 in the field of RD, especially in health information systems and especially national repositories of data on patient with rare diseases;
  • Cross-referencing with other terminologies in Unified Medical Language System and with the Human Phenotype Ontology and free access to the resulting data;
  • Identifying coding lacking in other nomenclatures and promotion of an update of these nomenclatures.






Work theme leader:

Ségolène Aymé – Institut national de la santé et de la recherche médicale (France)

Ségolène Aymé is a medical geneticist and Emeritus Research Director at the French Institute of Health and Medical Research (INSERM). She is the founder of Orphanet (, the former leader of the EC Rare Disease Task Force (RDTF) and the European Union Committee of Experts on Rare Diseases (EUCERD), as well as chair of the Topic Advisory Group on rare diseases at the World Health Organization. She is project leader of Support-IRDiRC, the Scientific Secretariat of the International Rare Disease Research Consortium.


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