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  1. FHIR Specification Feedback
  2. FHIR-16080

Allow for SNOMED terms for PGx Impacts

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    • Icon: Change Request Change Request
    • Resolution: Retracted
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
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    • Enhancement

    Description

      SNOMED has released PGx concepts like the following:

      http://browser.ihtsdotools.org/?perspective=full&conceptId1=738535003&edition=us-edition&release=v20180301&server=https://prod-browser-exten.ihtsdotools.org/api/snomed&langRefset=900000000000509007

      They take the form of "[GENE] [STATUS]"

      Should we allow for these to be delivered? We have our own profiles that describe sending the STATUS (as a LOINC answer list), and it can reference a Genotype/Haplotype/Variant, which from "Computable Genetic Findings" allows for GENE. However, I am not sure how we support delivering the SNOMED codes I reference above?

      Also consider: Should these SNOMED codes be delivered as report-level Interpretations rather than Genetic Impacts?

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            Unassigned Unassigned
            cerkyp Kevin Power
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