Connaissances sur les maladies rares et les médicaments orphelins

• 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

  Ce document a été traduit en polonais (2017), en espagnol (2018), en allemand (2019), en japonais (2019), Portugais (2021) et en Russe (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

Informations scientifiques

• Création et Mise à jour des Textes Résumés des Maladies pour l'Encyclopédie d'Orphanet pour les Professionnels
• 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

Ressources expertes

• 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