Conhecimento sobre doenças raras e medicamentos órfãos

• Procedimentos Operacionais Padronizados da Orphanet
• Regulamento Interno do Conselho Consultivo Internacional
• Procedureregels voor de Genetische Adviesraad van Orphanet

• Orphanet nomenclature and classification of rare diseases
• Regras de codificação da CID-10 para as doenças raras

• Naming rules for the rare disease nomenclature in English

  Este documento foi traduzido para polonês (2017), espanhol (2018), allemand, (2019) japonês (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

Informação científica

• Criação e Atualização de Textos de Resumo das Doenças para a Enciclopédia Orphanet para Profissionais
• 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

Recursos especializados

• 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