FHIR Chat · Variation-code definition documentation · genomics

Stream: genomics

Topic: Variation-code definition documentation


view this post on Zulip Hayden Bader (Mar 05 2021 at 20:43):

Related to the previous post,

On the Observation Variant profile, variation-code has this for its definition
"The name of a structural variant reported using HGVS nomenclature."

Which seems like it shouldn't be the case because the variant might not be a structural variant, and the LOINC code of the code component for varaition-code makes it look like we should be able to document variants' database identifiers here.

I've mainly been looking at this:
http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html
So, is this the right thing to be referencing? And if so, can we update the description?

view this post on Zulip Kevin Power (Mar 08 2021 at 01:42):

Uggg good catch @Hayden Bader - I think this is a typo from our recent conversion to FSH. Do you mind logging a tracker?

view this post on Zulip Hayden Bader (Mar 08 2021 at 14:32):

Can do. Not quite sure if I've submitted it to the right place, but here's a link to it:
https://jira.hl7.org/browse/FHIR-31428

view this post on Zulip Bret H (Apr 01 2021 at 13:19):

Thanks!!


Last updated: Apr 12 2022 at 19:14 UTC