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  1. FHIR Specification Feedback
  2. FHIR-25241

Missing LOINC codes in Variant profile (but are in UML)

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.0 [deprecated]
    • Clinical Genomics
    • (profiles) [deprecated]
    • Variant; Variant Reporting
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      Fix the codes in the UML diagram as indicated.

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      Fix the codes in the UML diagram as indicated.
    • Patrick Werner/Anand Kulanthaivel: 10-0-0
    • Correction
    • Non-substantive

    Description

      There are three LOINC codes are missing from the Variant profile (they are listed as TBD-codes). The correct codes are listed in the UML model as part of Variant Reporting.

       

      It should be:

      component(genomic-allele-start-end) 81254-5 Genomic allele start-end

      component(inner-start-end) 81302-2 Structural variant inner start and end

      component(outer-start-end) 81301-4 Structural variant outer start and end

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            Unassigned Unassigned
            liz.amos Liz Amos
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            Dates

              Created:
              Updated:
              Resolved: