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

CodeSystem: Genetic Observation Secondary Findings Code System

Official URL: http://hl7.org/fhir/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:2.16.840.1.113883.4.642.4.1286

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)

    • 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