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 July 2023

Englishen_product1.xml1083936.23 MB22 Jun 23diffFile
Czechcs_product1.xml1083929.8 MB22 Jun 23diffFile
Dutchnl_product1.xml1083937.08 MB22 Jun 23diffFile
Frenchfr_product1.xml1083936.04 MB22 Jun 23diffFile
Germande_product1.xml1083934.57 MB22 Jun 23diffFile
Italianit_product1.xml1083935.06 MB22 Jun 23diffFile
Spanishes_product1.xml1083937.29 MB22 Jun 23diffFile
Polishpl_product1.xml1083931.88 MB22 Jun 23diffFile
Portuguesept_product1.xml1083931.68 MB22 Jun 23diffFile
Turkish (annual)tr_product1.xml1057226.68 MB01 Sep 21In progress
Chinese (annual)zh_product1.xml1056327.65 MB01 Jun 20In progress
Englishen_product1.json.tar.gz108392.25 MB22 Jun 23
Czechcs_product1.json.tar.gz108391.2 MB22 Jun 23
Dutchnl_product1.json.tar.gz108392.37 MB22 Jun 23
Frenchfr_product1.json.tar.gz108392.26 MB22 Jun 23
Germande_product1.json.tar.gz108391.88 MB22 Jun 23
Italianit_product1.json.tar.gz108391.91 MB22 Jun 23
Spanishes_product1.json.tar.gz108392.39 MB22 Jun 23
Polishpl_product1.json.tar.gz108391.46 MB22 Jun 23
Portuguesept_product1.json.tar.gz108391.28 MB22 Jun 23
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).


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 and a  Global Core Biodata Resource

These products are an  IRDiRC regognised 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

EnglishORPHA-SNOMEDCT_Mapping_File_production.xlsx31 Oct 2022260 Kb

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