FHIR Extensions Pack
5.2.0-ballot - 5.2.0 Ballot - September 2024) International flag

FHIR Extensions Pack, published by HL7 International / FHIR Infrastructure. This guide is not an authorized publication; it is the continuous build for version 5.2.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-extensions/ and changes regularly. See the Directory of published versions

CodeSystem: Genetic Observation Secondary Findings Code System

Official URL: http://hl7.org/fhir/secondary-finding Version: 5.2.0-ballot
Standards status: Trial-use Maturity Level: 3 Responsible: HL7 International / Orders and Observations Computable Name: GeneticObservationSecondaryFindings
Other Identifiers: OID:2.16.840.1.113883.4.642.4.1286

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

This Code system is referenced in the content logical definition of the following value sets:

Changes since version 1.0.0:

  • The resource metadata has changed (title, publisher)

    • Generated Narrative: CodeSystem secondary-finding

    Last updated: 2023-01-31 07:07:38+1100

    Profile: Shareable CodeSystem

    This case-sensitive code system http://hl7.org/fhir/secondary-finding defines the following codes:

    CodeDisplayDefinition
    acmg-version1 ACMG 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-version2 ACMG 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