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 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
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_product1.xml | 11074 | 40.14 MB | 03 Dec 24 | diffFile |
| English | en_product1_new.xml | 11074 | 43.85 MB | 03 Dec 24 | diffFile |
| Czech | cs_product1.xml | 11074 | 33.69 MB | 03 Dec 24 | diffFile |
| Czech | cs_product1_new.xml | 11074 | 33.76 MB | 03 Dec 24 | diffFile |
| Dutch | nl_product1.xml | 11074 | 41.13 MB | 03 Dec 24 | diffFile |
| Dutch | nl_product1_new.xml | 11074 | 44.84 MB | 03 Dec 24 | diffFile |
| French | fr_product1.xml | 11074 | 40.59 MB | 03 Dec 24 | diffFile |
| French | fr_product1_new.xml | 11074 | 44.3 MB | 03 Dec 24 | diffFile |
| German | de_product1.xml | 11074 | 39.46 MB | 03 Dec 24 | diffFile |
| German | de_product1_new.xml | 11074 | 43.17 MB | 03 Dec 24 | diffFile |
| Italian | it_product1.xml | 11074 | 39.47 MB | 03 Dec 24 | diffFile |
| Italian | it_product1_new.xml | 11074 | 43.18 MB | 03 Dec 24 | diffFile |
| Spanish | es_product1.xml | 11074 | 41.41 MB | 03 Dec 24 | diffFile |
| Spanish | es_product1_new.xml | 11074 | 45.12 MB | 03 Dec 24 | diffFile |
| Polish | pl_product1.xml | 11074 | 36.26 MB | 03 Dec 24 | diffFile |
| Polish | pl_product1_new.xml | 11074 | 36.32 MB | 03 Dec 24 | diffFile |
| Portuguese | pt_product1.xml | 11074 | 35.78 MB | 03 Dec 24 | diffFile |
| Portuguese | pt_product1_new.xml | 11074 | 39.49 MB | 03 Dec 24 | diffFile |
| Turkish (annual) | tr_product1.xml | 10572 | 26.68 MB | 01 Sep 21 | In progress |
| Ukrainian* (annual) | uk_product1.xml | 11023 | 44.83 MB | 12 Nov 24 | In progress |
| Chinese (annual) | zh_product1.xml | 10563 | 27.65 MB | 01 Jun 20 | In progress |
(*) The Orphanet nomenclature of rare diseases has been translated by the Ministry of Health of Ukraine’s Workgroup for the Translation and Adaptation of the Orphanet Nomenclature of Rare Diseases at the National Children’s Specialized Hospital Okhmatdyt (Kyiv). The medical validators are Nataliia Gorovenko, Nataliia Olkhovych, Nataliia Samonenko.
| Language | File | Number | Size | Date |
|---|---|---|---|---|
| English | en_product1.json.tar.gz | 11074 | 2.41 MB | 03 Dec 24 |
| English | en_product1_new.json.tar.gz | 11074 | 2.58 MB | 03 Dec 24 |
| Czech | cs_product1.json.tar.gz | 11074 | 1.34 MB | 03 Dec 24 |
| Czech | cs_product1_new.json.tar.gz | 11074 | 1.34 MB | 03 Dec 24 |
| Dutch | nl_product1.json.tar.gz | 11074 | 2.55 MB | 03 Dec 24 |
| Dutch | nl_product1_new.json.tar.gz | 11074 | 2.72 MB | 03 Dec 24 |
| French | fr_product1.json.tar.gz | 11074 | 2.58 MB | 03 Dec 24 |
| French | fr_product1_new.json.tar.gz | 11074 | 2.74 MB | 03 Dec 24 |
| German | de_product1.json.tar.gz | 11074 | 2.29 MB | 03 Dec 24 |
| German | de_product1_new.json.tar.gz | 11074 | 2.45 MB | 03 Dec 24 |
| Italian | it_product1.json.tar.gz | 11074 | 2.18 MB | 03 Dec 24 |
| Italian | it_product1_new.json.tar.gz | 11074 | 2.33 MB | 03 Dec 24 |
| Spanish | es_product1.json.tar.gz | 11074 | 2.58 MB | 03 Dec 24 |
| Spanish | es_product1_new.json.tar.gz | 11074 | 2.74 MB | 03 Dec 24 |
| Polish | pl_product1.json.tar.gz | 11074 | 1.71 MB | 03 Dec 24 |
| Polish | pl_product1_new.json.tar.gz | 11074 | 1.71 MB | 03 Dec 24 |
| Portuguese | pt_product1.json.tar.gz | 11074 | 1.47 MB | 03 Dec 24 |
| Portuguese | pt_product1_new.json.tar.gz | 11074 | 1.62 MB | 03 Dec 24 |
| Turkish (annual) | tr_product1.json.tar.gz | 10572 | 1.03 MB | 01 Sep 21 |
| Ukrainian* (annual) | uk_product1.json.tar.gz | 11023 | 3.23 MB | 12 Nov 24 |
| 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)
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).
Release of October 2024
! Warning !
The file ORPHA-SNOMEDCT mapping file has been updated as of 28/11/2024.
Please ensure you are working with the latest version to avoid inconsistencies.
| Language | File | Date | Size |
|---|---|---|---|
| English | ORPHA-SNOMEDCT_Mapping_File_production.xlsx | 303 Ko | 15 Oct 24 |
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