Discussions - Genomics and Precision Medicine CRG
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@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?
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
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
Thank you. Indeed in Orphanet I also found linkages to OMIM. Do you know how those links are maintained and validated?
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)