Genomic source class clarification - 2016-09 core #291

XMLWordPrintableJSON

    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU2
    • Clinical Genomics
    • Observation
    • (profiles)
    • 1.4
    • Hide

      Persuaive- Will point to LOINC term for defnition and work with LOINC to redefine the term. Once redefined, we will edit our defintion accordingly as well.

      Show
      Persuaive- Will point to LOINC term for defnition and work with LOINC to redefine the term. Once redefined, we will edit our defintion accordingly as well.
    • David Kreda/Clem McDownload: 25-0-2
    • Correction
    • Non-substantive
    • DSTU2

      Existing Wording: Source of sample used to determine the sequence in sequencing lab – germline, somatic, prenatal.

      Comment:

      Please clarify the semantics of this concept. If it refers to the sample tissue cell source, then somatic cells are distinguished from germ cells, so change "germline" to "germ". If it refers to the source of particular variant, then there is germline or somatic, depending on whether the variant arose post-zygotically, so delete "prenatal". If it refers to something else, please state what the concept is specifically and explicitly.

      Summary:

      Genomic source class clarification

            Assignee:
            Unassigned
            Reporter:
            perry_mar
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: