March-2017  

Rare diseases and cross-referencing

New XML format version.

Language links size
English http://www.orphadata.org/data/xml/en_product1.xml 25.94 MB

French http://www.orphadata.org/data/xml/fr_product1.xml 24.85 MB
Spanish http://www.orphadata.org/data/xml/es_product1.xml 24.22 MB
Italian http://www.orphadata.org/data/xml/it_product1.xml 24.09 MB
Portuguese http://www.orphadata.org/data/xml/pt_product1.xml 22.88 MB
German http://www.orphadata.org/data/xml/de_product1.xml 24.12 MB
Dutch http://www.orphadata.org/data/xml/nl_product1.xml 23.24 MB
    • What's new?
    • Types of disorders: Disorders in the database are comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, rare disorders, sub-types. A "rare disorder" in the database can be a disease, a malformation syndrome, a clinical syndrome, a morphological or a biological anomaly or a particular clinical situation (in the course of a disorder).
    • Flags of disorders: A flag is a numerical indication attached to an element of the database in order to allow information to be retrieved:
      • Head of classification: This is the top level of a given classification (e.g. rare cardiac disease for Orphanet classifications of rare cardiac diseases)
      • Historical entity: Entities that were described a long time ago, mostly before the genetic era, and for which the princeps article is still available but no further literature exists that confirms their existence.
      • Deprecated entity: These are entities formerly considered as true diseases and now recognised as being part of another disorder in the database.
    • New relations between disorders: We establish a "Moved to" relationship between a deprecated entity and a disorder when the former is part of the latter.
    • Characterisation of the alignments between disorders and external terminologies or resources: OMIM, ICD10, MeSH, UMLS, MedDRA and GARD: These alignments are further characterised in order to specify if the terms are perfectly equivalent (exact mapping) or not.
    • Furthermore, for ICD10 it is indicated if a specific code exists in ICD10 for the disorder, or if it is listed in the tabular list or in the index in ICD10 without having a specific code, or if Orphanet has attributed the code together with the validation status for the attribution. The procedure followed by Orphanet to attribute ICD10 codes rare diseases is available here : Orphanet_ICD10_coding_rules.pdf

For more information, see the user's guide

previous XML format version

Language links size
English http://www.orphadata.org/data/xml/en_product1_retro.xml 7.96 MB

French http://www.orphadata.org/data/xml/fr_product1_retro.xml 8.00 MB
Spanish http://www.orphadata.org/data/xml/es_product1_retro.xml 7.89 MB
Italian http://www.orphadata.org/data/xml/it_product1_retro.xml 7.91 MB
Portuguese http://www.orphadata.org/data/xml/pt_product1_retro.xml 7.50 MB
German http://www.orphadata.org/data/xml/de_product1_retro.xml 7.83 MB
Dutch http://www.orphadata.org/data/xml/nl_product1_retro.xml 8.02 MB

For more information, go to the presentation "Orphadata : how are the data produced ?"

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