Rare diseases and alignment with ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA and GARD.

XML and JSON formats are available in English, French, German, Dutch, Italian, Spanish, Portuguese, Polish, Czech, Chinese and Turkish.

Data are also available through APIs.

Orphanet Knowledge base release of June 2022

XML
LanguageFileNumberSizeDateDiffFile
Englishen_product1.xml1067533.03 MB14 Jun 22diffFile
Czechcs_product1.xml1067527.67 MB14 Jun 22diffFile
Dutchnl_product1.xml1067533.7 MB14 Jun 22diffFile
Frenchfr_product1.xml1067532.45 MB14 Jun 22diffFile
Germande_product1.xml1067531.08 MB14 Jun 22diffFile
Italianit_product1.xml1067531.89 MB14 Jun 22diffFile
Spanishes_product1.xml1067533.56 MB14 Jun 22diffFile
Polishpl_product1.xml1067528.6 MB14 Jun 22diffFile
Portuguesept_product1.xml1067528.59 MB14 Jun 22diffFile
Turkish (annual)tr_product1.xml1057226.68 MB01 Sep 21No Diff File
Chinese (annual)zh_product1.xml1056327.65 MB01 Jun 20No Diff File
JSON
LanguageFileNumberSizeDate
Englishen_product1.json.tar.gz106752.13 MB14 Jun 22
Czechcs_product1.json.tar.gz106751.13 MB14 Jun 22
Dutchnl_product1.json.tar.gz106752.24 MB14 Jun 22
Frenchfr_product1.json.tar.gz106752.0 MB14 Jun 22
Germande_product1.json.tar.gz106751.65 MB14 Jun 22
Italianit_product1.json.tar.gz106751.8 MB14 Jun 22
Spanishes_product1.json.tar.gz106752.2 MB14 Jun 22
Polishpl_product1.json.tar.gz106751.32 MB14 Jun 22
Portuguesept_product1.json.tar.gz106751.16 MB14 Jun 22
Turkish (annual)tr_product1.json.tar.gz105721.03 MB01 Sep 21
Chinese (annual)zh_product1.json.tar.gz105631.51 MB01 Jun 20
Previous versions

Please consult the Orphadata aggregated Github for versions since April 2020. Historical versions (before April 2020) are available on request (please use    contact form).

Descriptions

Follow links below to get description (PDF) and representation of files (XSD and JPEG)

All files are available under the  Commons Attribution 4.0 International (CC BY 4.0) licence

These products have been recognised as an  Elixir Core Data Resource

These products are an  IRDiRC regognized resources.

Rare diseases and map with SNOMED CT

A SNOMED CT-Orphanet nomenclature map has been produced in XLSX format in English. The product of a joint project carried out under a collaboration agreement between the Institut national de la santé et de la recherche médicale (INSERM) and SNOMED International.

Based on an agreed priority set, new concepts for rare diseases as defined in Orphanet have been added to SNOMED CT and a map from SNOMED CT to the Orphanet Nomenclature of Rare Diseases has been created.

Access to the human readable map is made available from Orphanet below, and the RF2 version is available from SNOMED International for Members and Affiliates from the organization’s Member Licensing and Distribution Service ( https://mlds.ihtsdotools.org).

Map release of October 2022

XLSX
LanguageFileDateSize
EnglishORPHA-SNOMEDCT_Mapping_File_production.xlsx31 Oct 2022260 Kb

“SNOMED” and “SNOMED CT” are registered trademarks of the IHTSDO, trading as SNOMED International. Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure that they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org. Under the terms of the Affiliate License, use of SNOMED CT in countries that are not IHTSDO Members is subject to reporting and fee payment obligations.