Conocimiento sobre enfermedades raras y medicamentos huérfanos

• Procedimientos Normalizados de Trabajo de Orphanet
• Reglamento del Consejo Consultivo Internacional
• Reglamento del Consejo Consultivo Genético de Orphanet

• Orphanet nomenclature and classification of rare diseases
• Reglamento para la codificación CIE-10 de las enfermedades raras

• Reglas para denominar las enfermedades raras

  Este documento ha sido producido en inglés (2017), polaco (2017), alemán (2019), japonés (2019), portugués (2021) y ruso (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

Información científica

• Creación y actualización de textos de resúmenes de enfermedades para la Enciclopedia Orphanet para Profesionales
• 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 expertos

• 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