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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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    Details

    • Type: Change Request
    • Status: Resolved - change required (View Workflow)
    • Priority: Medium
    • Resolution: Persuasive with Modification
    • Specification:
      Genomics Reporting (FHIR)
    • Raised in Version:
      1.0
    • Work Group:
      Clinical Genomics
    • Related Page(s):
      (profiles)
    • Related Section(s):
      Variant; Variant Reporting
    • Grouping:
    • Resolution Description:
      Hide

      Fix the codes in the UML diagram as indicated.

      Show
      Fix the codes in the UML diagram as indicated.
    • Resolution Vote:
      Patrick Werner/Anand Kulanthaivel: 10-0-0
    • Change Category:
      Correction
    • Change Impact:
      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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            Assignee:
            Unassigned Unassigned
            Reporter:
            liz.amos Liz Amos
            Watchers:
            3 Start watching this issue

              Dates

              Created:
              Updated:
              Resolved:
              Vote Date: