Orphanet Nomenclature of Rare Diseases

Code System Owner

present in the Orphanet database is structured. This clinical coding system provides a common language across healthcare and research systems for effective monitoring and reporting on rare diseases, thus improving their visibility.

The Orphanet nomenclature is cross-referenced with other international terminologies and reference databases (including OMIM, ICD-10, SNOMED-CT, MedDRA, UMLS, MeSH, and
GARD) in order to enable interoperability between different information systems.

Orphanet also maintains the Orphanet classification of rare diseases, a multi-hierarchical and polyparental structure built on the Orphanet nomenclature and organised by medical specialty
according to diagnostic and therapeutic relevance. This structure reflects the multidimensional nature of rare diseases and enables to carry out epidemiological and statistical studies for research
purposes.

By providing these services, Orphanet actively contributes to generating knowledge on rare diseases and promotes the improvement of the diagnostic pathway and clinical care provided to affected patients."

Data can be downloaded from here: http://www.orphadata.org/cgi-bin/rare_free.html

"The appropriate form when quoting Orphanet is:
Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net. Accessed (date accessed).

The appropriate form when quoting an Orphanet text is: Author(s). “Name of disease”. Orphanet Encyclopaedia, Month, year, URL address.

The appropriate form when quoting an Orphanet Emergency Guideline is : Author(s). ?Name of disease?. Orphanet Emergency Guideline, Month, year, URL address.

The appropriate form when quoting an Orphanet General Public text is : Author(s). ?Name of disease?. Orphanet General Public Encyclopaedia, Month, year, URL address.

The appropriate form when quoting an Orphanet Disability Factsheet is : Author(s). ?Name of disease?. Orphanet Disability Factsheet, Month, year, URL address."

"The INSERM holds all intellectual property rights concerning the structure of the database, the format of the website, the logo and copyright, as well as the data and information on the site (content, texts, classifications, nomenclatures, and press statements).
No element or part of the site (including, but not limited to, the database and the information contained within) can be copied, translated, reproduced, exploited, published, electronically stocked or redistributed for commercial use without prior written consent.

Large extraction of data from orphadata.org for use in another information system is allowed for any non-commercial use. Please refer to the legal notice of Orphadata for further information.

However, INSERM US14 allows the user to reproduce all or part of the site?s content, in one saved or printed copy. This right applies strictly to personal, private and non-collective use of the material.

Non-profit organisations are authorised to copy and distribute information from the site, as long as this information is neither modified nor sold. In addition to this, the terms of the intellectual property rights and the source of the information must be provided."