FHIR Chat · Observation for Genetics > Allele Name · genomics

Stream: genomics

Topic: Observation for Genetics > Allele Name

Bob Milius (Jun 13 2016 at 20:25):

I suggest allowing observation-geneticsAlleleName to use codable concept. We should encourage users to use allele names that are standardized. For example, I would like to be able to use this snippet for an allele name.

<valueCodeableConcept>
    <coding>
        <system value="http://www.ebi.ac.uk/ipd/imgt/hla/"/>
        <version value="3.23"/>
        <code value="HLA00001"/>
        <display value="HLA-A*01:01:01:01"/>
    </coding>
    <text value="HLA-A*01:01:01:01"/>
</valueCodeableConcept>

This may be flexible enough to replace all the HGVS specific elements we currently have. Maybe.

Gaston Fiore (Jun 14 2016 at 14:36):

Should we add this item for discussion on Thursday?

Gaston Fiore (Jun 14 2016 at 14:38):

I also want to thank you @ Bob Milius for your example-based approach. I find it a very useful way to drive desirable change forward!

Last updated: Apr 12 2022 at 19:14 UTC