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 2024

New XML and JSON files (*_new.xml /*new.json.tar.gz) are available but last year’s formats are still available (*.xml /*.json.tar.gz).

In this new format, we provide the URL link corresponding to the ICD-11 MMS code webpage and the URI (Uniform resource identifier) corresponding to the ICD-11 Foundation code.

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 Recognized Resources

Englishen_product1.xml1102340.11 MB03 Jul 24diffFile
Englishen_product1_new.xml1102343.69 MB01 Jul 241st version
Czechcs_product1.xml1102333.69 MB03 Jul 24diffFile
Czechcs_product1_new.xml1102337.35 MB01 Jul 241st version
Dutchnl_product1.xml1102341.11 MB03 Jul 24diffFile
Dutchnl_product1_new.xml1102344.68 MB01 Jul 241st version
Frenchfr_product1.xml1102340.47 MB03 Jul 24diffFile
Frenchfr_product1_new.xml1102344.05 MB01 Jul 241st version
Germande_product1.xml1102339.23 MB03 Jul 24diffFile
Germande_product1_new.xml1102342.81 MB01 Jul 241st version
Italianit_product1.xml1102339.32 MB03 Jul 24diffFile
Italianit_product1_new.xml1102342.88 MB01 Jul 241st version
Spanishes_product1.xml1102341.41 MB03 Jul 24diffFile
Spanishes_product1_new.xml1102344.99 MB01 Jul 241st version
Polishpl_product1.xml1102336.53 MB03 Jul 24diffFile
Polishpl_product1_new.xml1102340.19 MB01 Jul 241st version
Portuguesept_product1.xml1102335.72 MB03 Jul 24diffFile
Portuguesept_product1_new.xml1102339.3 MB01 Jul 241st version
Turkish (annual)tr_product1.xml1057226.68 MB01 Sep 21In progress
Chinese (annual)zh_product1.xml1056327.65 MB01 Jun 20In progress
Englishen_product1.json.tar.gz110232.4 MB01 Jul 24
Englishen_product1_new.json.tar.gz110232.57 MB01 Jul 24
Czechcs_product1.json.tar.gz110231.33 MB01 Jul 24
Czechcs_product1_new.json.tar.gz110231.46 MB01 Jul 24
Dutchnl_product1.json.tar.gz110232.54 MB01 Jul 24
Dutchnl_product1_new.json.tar.gz110232.7 MB01 Jul 24
Frenchfr_product1.json.tar.gz110232.54 MB01 Jul 24
Frenchfr_product1_new.json.tar.gz110232.7 MB01 Jul 24
Germande_product1.json.tar.gz110232.22 MB01 Jul 24
Germande_product1_new.json.tar.gz110232.38 MB01 Jul 24
Italianit_product1.json.tar.gz110232.14 MB01 Jul 24
Italianit_product1_new.json.tar.gz110232.29 MB01 Jul 24
Spanishes_product1.json.tar.gz110232.57 MB01 Jul 24
Spanishes_product1_new.json.tar.gz110232.73 MB01 Jul 24
Polishpl_product1.json.tar.gz110231.67 MB01 Jul 24
Polishpl_product1_new.json.tar.gz110231.81 MB01 Jul 24
Portuguesept_product1.json.tar.gz110231.45 MB01 Jul 24
Portuguesept_product1_new.json.tar.gz110231.6 MB01 Jul 24
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)

Last year’s format

New version

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 2023

EnglishORPHA-SNOMEDCT_Mapping_File_production.xlsx24 Oct 2023275 Kb

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