FHIR Extensions Pack
5.1.0 - 5.1.0 (April 2024) International flag

This page is part of the FHIR Core Extensions Registry (v5.1.0: Release 5.1) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

ValueSet: Genetic Observation Secondary Findings Value Set

Official URL: http://hl7.org/fhir/ValueSet/secondary-finding Version: 5.1.0
Standards status: Trial-use Maturity Level: 3 Responsible: HL7 International / Orders and Observations Computable Name: GeneticObservationSecondaryFindings
Other Identifiers: OID:2.16.840.1.113883.4.642.3.1285

Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.

References

Changes since version 1.0.0:

  • The resource metadata has changed (title, publisher)

    • Logical Definition (CLD)

     

    Expansion

    Expansion based oncodesystem Genetic Observation Secondary Findings Code System v5.1.0 (CodeSystem)

    This value set contains 2 concepts.

    CodeSystemDisplayDefinition
      acmg-version1http://hl7.org/fhir/secondary-findingACMG Version 1

    First release (2013): ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/

      acmg-version2http://hl7.org/fhir/secondary-findingACMG Version 2

    Second release (2016): Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. https://www.ncbi.nlm.nih.gov/pubmed/27854360

    Explanation of the columns that may appear on this page:

    Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
    System The source of the definition of the code (when the value set draws in codes defined elsewhere)
    Code The code (used as the code in the resource instance)
    Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
    Definition An explanation of the meaning of the concept
    Comments Additional notes about how to use the code