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Unified Medical Language System (UMLS)

UMLS Vocabularies

ORPHANET (ORPHANET) - Synopsis

Search ORPHANET in the UMLS Metathesaurus
(requires a free UMLS license)

Web sites:
https://www.orphadata.com/
https://www.orpha.net/

Authority
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.

Description
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:

  1. 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.
  2. 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.
  3. Contribute to generating knowledge on rare diseases: piecing together the parts of the puzzle to better understand rare diseases.

Update Frequency
Orphanet is updated annually.

Metathesaurus Update Frequency
Orphanet is updated annually in the Metathesaurus.

Sites Consulted

  1. 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
  2. Orphadata: Free access data from Orphanet [Internet]. Paris, France; INSERM US14; Data version (XML data version). Available from: https://www.orphadata.com
  3. 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