Rare Disease model in OpenEHR

Dear all,

We in Slovenia are planning the rare disease registry. Regarding cross border interoperability, I am asking if there are any OpenEHR models for rare diseases.

Thank you for the answer.

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Hi! What kind of information regarding rare diseases are you thinking of? There’s of course the work going on regarding genetic variants that may be relevant?

Hi Ziva,

There has been quite a lot of work been done on this already but there is really no such thing as a Rare disease model per-se - rather we are able to largely make use of existing generic archetypes to reflect the needs of a Rare disease registry.

This template draws heavily on the EPIRARE data models


This is the work done for Genomics England, reflecting their clinical phenotypics which specifically includes Rare disease but is much more detailed.


There are

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and other work previously done for PARENT, again based on EPIRARE

PARENT CDE.pdf (737.3 KB) - these templates were developed but are not publicly visible.

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I think @shnj.kobayashi can tell you about their experience in Japan

Hi Ziva,

Ian’s observation that there is no ‘rare disease’ model is correct.

In fact we would actively promote reuse of the archetypes that are designed for all diseases and clinical scenarios as much as possible. Most people are surprised how many are applicable for any ‘new’ domain, assuming appropriate terminology value sets are applied to the archetypes in any given template.

Then identify the gaps between your rare disease requirements and the existing models, and resolving these data elements can occur in one of three ways:

  • propose a change request to add them to an existing archetype
  • specialise an existing archetype for your purpose
  • create a new archetype. Often this might be a CLUSTER archetype that can be added to a SLOT in an existing archetype that extends it for your specific purpose.

Hope this helps



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Hi Ziva,

within the German Medical Informatics Initiative, we have a dedicated rare disease use-case (though this is not a registry). To my knowledge, they rely pretty much on the basic FHIR models but additionally require hospitals to use orphanet codes besides the classic ICD and SNOMED to sufficiently address the need to encode diseases/conditions:

As @heather.leslie mentioned, this should work quite well with the existing archetypes and would likely ensure a good foundation for interoperability between initiatives.



Dear all,
thank you very much for your answers.
I have good experiences with the OpenEHR model for medical device, which we use in the arthroplasty registry in Slovenia. We also use the OpenEHR template for Patient Summary in our national solution.
I hoped that something is just have been done also for rare diseases.
I agree with Heather that we should use existing archetypes as much is possible, i.e. demographic part and archetype for diseases. Our physician also suggest the ORPHA code as Birger did. Thank you, Birger.
In our country other group is responsible for the data definition, so my question is in this time for only information.