Knowledge on rare diseases and orphan drugs

• Orphanet Standard Operating Procedures
• International Advisory Board rules of procedure
• Orphanet Advisory Board on Genetics Rules of procedures

• Orphanet nomenclature and classification of rare diseases
• ICD-10 coding rules for rare diseases

• Naming rules for the rare disease nomenclature in English

  This document has been translated into Polish (2017) and Spanish (2018) and German (2019) and Japanese (2019) and Portuguese (2021) and Russian (2021)

• Nomenclature production in national language
• Linearization rules for Orphanet classifications
• Collaboration with networks of expertise for the revision of the Orphanet nomenclature and classification of rare diseases

Scientific information

• Creation and Update of Disease Summary Texts in English for the Orphanet Encyclopaedia for Professionals
• Orphanet inventory of genes related to rare diseases
• Epidemiological data collection in Orphanet
• Translation of the Disease Summary Texts of the Orphanet Encyclopedia for Professionnals
• Collection and dissemination of disease information for health professionals and the general public

Expert resources

• Glossary and representation of terms related to diagnostic tests
Data collection and registration of medicinal products intended for rare diseases in Orphanet
• Data collection and registration of expert centres in Orphanet
• Data collection and registration of patient organisations in Orphanet
• Data collection and registration of diagnostic tests in Orphanet
• Data collection and registration of research projects in Orphanet
• Data collection and registration of Clinicals trials in Orphanet
• Data collection and registration of patient registries in Orphanet
• Data collection and registration of biobanks in Orphanet