Genomics and Precision Medicine Clinical Reference Group

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7 Comments

  1. Graham Ponting

    HPO and SNOMED cross mapping - a draft mapping has been added to the Community Content page for discussion.

    see HPO to SNOMED CT Map - Community Content - SNOMED Confluence (ihtsdotools.org)

  2. Inge Soons

    Ian Green I got a question from the Dutch Federation Medical Specialists if there is or is going to be a map between SNOMED and OMIM? What are the current thoughts about that? 

    1. Ian Green

      Hi Inge,

      We had initial discussions with them about 2 years ago. At the time, their were no clear Member requirements to undertake any work, in addition OMIM required us to pay a license fee in perpetuity  of $55K per year to "use" OMIM. In view of both of these issues, we did not take the discussions any further

      kind regards

      Ian

  3. Graham Ponting

    I appreciate it may not be what they need, but HPO includes links to OMIM and ORPHA, and has some SNOMED links.

    see an example at https://hpo.jax.org/browse/term/HP:0001662

    Graham Ponting

    1. Inge Soons

      Thank you. Indeed in Orphanet I also found linkages to OMIM. Do you know how those links are maintained and validated?

  4. Ian Green

    I agree, it will depend on what the requirements are ?

    Ian

  5. Graham Ponting

    You will need to ask the HPO team but agreed, that is a critical aspect of any mapping.

    Graham