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 December 2023
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
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_product1.xml | 10892 | 39.7 MB | 04 Dec 23 | diffFile |
| Czech | cs_product1.xml | 10892 | 33.32 MB | 04 Dec 23 | diffFile |
| Dutch | nl_product1.xml | 10892 | 40.7 MB | 04 Dec 23 | diffFile |
| French | fr_product1.xml | 10892 | 39.86 MB | 04 Dec 23 | diffFile |
| German | de_product1.xml | 10892 | 38.44 MB | 04 Dec 23 | diffFile |
| Italian | it_product1.xml | 10892 | 38.59 MB | 04 Dec 23 | diffFile |
| Spanish | es_product1.xml | 10892 | 40.97 MB | 04 Dec 23 | diffFile |
| Polish | pl_product1.xml | 10892 | 35.49 MB | 04 Dec 23 | diffFile |
| Portuguese | pt_product1.xml | 10892 | 35.25 MB | 04 Dec 23 | diffFile |
| Turkish (annual) | tr_product1.xml | 10572 | 26.68 MB | 01 Sep 21 | In progress |
| Chinese (annual) | zh_product1.xml | 10563 | 27.65 MB | 01 Jun 20 | In progress |
| Language | File | Number | Size | Date |
|---|---|---|---|---|
| English | en_product1.json.tar.gz | 10892 | 2.37 MB | 04 Dec 23 |
| Czech | cs_product1.json.tar.gz | 10892 | 1.31 MB | 04 Dec 23 |
| Dutch | nl_product1.json.tar.gz | 10892 | 2.51 MB | 04 Dec 23 |
| French | fr_product1.json.tar.gz | 10892 | 2.46 MB | 04 Dec 23 |
| German | de_product1.json.tar.gz | 10892 | 2.09 MB | 04 Dec 23 |
| Italian | it_product1.json.tar.gz | 10892 | 2.03 MB | 04 Dec 23 |
| Spanish | es_product1.json.tar.gz | 10892 | 2.54 MB | 04 Dec 23 |
| Polish | pl_product1.json.tar.gz | 10892 | 1.57 MB | 04 Dec 23 |
| Portuguese | pt_product1.json.tar.gz | 10892 | 1.4 MB | 04 Dec 23 |
| Turkish (annual) | tr_product1.json.tar.gz | 10572 | 1.03 MB | 01 Sep 21 |
| Chinese (annual) | zh_product1.json.tar.gz | 10563 | 1.51 MB | 01 Jun 20 |
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)
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
| Language | File | Date | Size |
|---|---|---|---|
| English | ORPHA-SNOMEDCT_Mapping_File_production.xlsx | 24 Oct 2023 | 275 Kb |
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