Orphanet was created by the French National Institute of Health and Medical Research (INSERM) in 1997 and its efforts are co-funded by the European Union. The Orphanet Nomenclature is developed by Orphanet, INSERM Unit US14.
Orphanet is a source of rare disease and orphan drug content. It is developed based on peer-reviewed journal articles and internationally recognized experts. This addition to the UMLS is based in part on work done by SNOMED International and INSERM to produce a mapping between SNOMED CT and Orphanet.
The three goals of Orphanet are:
- Improve the visibility of rare diseases in the fields of healthcare and research by maintaining the Orphanet rare disease nomenclature (ORPHAcode): providing a common language to understand each other across the rare disease field.
- Provide high-quality information on rare diseases and expertise, ensuring equal access to knowledge for all stakeholders: orientating users and actors in the field in the mass of information online.
- Contribute to generating knowledge on rare diseases: piecing together the parts of the puzzle to better understand rare diseases.
Orphanet is updated annually.
Metathesaurus Update Frequency
Orphanet is updated annually in the Metathesaurus.
- Orphanet: an online rare disease and orphan drug database [Internet]. Paris, France; French Institute of Health and Medical Research (INSERM) US14; [updated 2022 Oct 3; cited 2022 Sept 15]. Available from: http://www.orpha.net
- Orphadata: Free access data from Orphanet [Internet]. Paris, France; INSERM US14; Data version (XML data version). Available from: https://www.orphadata.com
- Orphanet: an online rare disease and orphan drug database [Internet]. Paris, France; French Institute of Health and Medical Research (INSERM) US14; About Orphanet: Know the rare for better care; [updated 2022 Oct 3; cited 2022 Oct 4]. Available from: https://www.orpha.net/consor/cgi-bin/Education_AboutOrphanet.php?lng=EN&stapage=ST_EDUCATION_EDUCATION_ABOUTORPHANET