Nicole Vasilevsky
Nicole Vasilevsky
I am not clear what is needed here, but if this makes sense to @cmungall, then it's all good. :)
Yes, thanks! @cmungall let me know if there are any action items for me.
From @saramsey: One example: how would one programmatically map ICD-11 code "4A44.5 Mucocutaneous lymph node syndrome" to an OMIM ID?
Action item: @joeflack4 take Orphanet - OMIM mapping that has been created, and compare it with the Mondo - orphanet mapping. Ie need to compare all the mappings where there...
yes, this looks good to me @joeflack4
I created a google doc [here](https://docs.google.com/spreadsheets/d/1Vm7FWfFVvQ2yeVVtQZrcUmG0SxgsD9kodeDdIOhPN8o/edit#gid=1375904312). I will work on this today.
note to self, I emailed Orphanet about the mapping between Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms and OMIM:613038 PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1; CPHD1. In OLS, it...
Response from Orphanet: I have reviewed the mapping between Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms and OMIM:613038 PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1; CPHD1 and you are right...
@joeflack4 I added this to the QC call agenda. I have some questions about this that would probably be easiest to discuss on the call. Thanks!
> nicolevasilevsky - I have a question about the mapping of Orphanet:93921 to MONDO:0024517. The Orpha data points to multiple exact matches: UMLS:C1335929 (E) = "Schwannomatosis" (maps SNOMED CT 781641005,...