Linearisation of Rare Diseases

The polyparental structure of the Orphanet classification of rare diseases implies that a disease is included in as many classification hierarchies as necessary depending on its clinical presentation and the medical specialties to which it is relevant. In order to enable the sorting out of all rare diseases by medical specialty and avoid multiple counting of multiclassified entities in statistical analysis, a linearisation process is applied in the Orphanet scientific knowledge base to attribute one medical specialty to each clinical entity. 

XML file is available in English (for another language contact us ) and data are also available through APIs.

Orphanet Knowledge base release of December 2023

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