Conoscenze sulle malattie rare e i farmaci orfani

• Procedure operative standard di Orphanet
• Norme procedurali del Comitato consultivo internazionale
• Norme procedurali del Comitato consultivo di Orphanet per la genetica

• Orphanet nomenclature and classification of rare diseases
• Regole di codifica dell'ICD-10 per le malattie rare

• Naming rules for the rare disease nomenclature in English

  Questo documento è stato tradotto in polacco (2017), spagnolo (2018), allemand (2019), giapponese (2019), portoghese (2021) e Russo (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

Informazioni scientifiche

• Realizzazione e aggiornamento delle descrizioni delle malattie per l'enciclopedia dei professionisti di Orphanet
• 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

Servizi specialistici

• 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