Wiedza o chorobach rzadkich i lekach sierocych

• Standardowe Procedury Operacyjne Orphanetu
• Zasady Działania Międzynarodowej Rady Doradczej
• Zasady Działania Komitetu ds. Genetyki

• Orphanet nomenclature and classification of rare diseases
• Zasady kodowania ICD-10 dla chorób rzadkich

• Nomenklatura chorób rzadkich w języku polskim

  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

• Tworzenie i aktualizacja informacji tekstowych w encyklopedii Orphanetu dla specjalistów
• Wykaz genów związanych z chorobami rzadkimi
• 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

• Słowniczek i prezentacja pojęć związanych z badaniami diagnostycznymi
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