FHIR General Extensions IG
0.1.0 - Working Copy International flag

This page is part of the FHIR Core Extensions Registry (v0.1.0: Releases Draft) based on FHIR v5.0.0. . For a full list of available versions, see the Directory of published versions

ValueSet: Genetic Observation Secondary Findings

Official URL: http://hl7.org/fhir/ValueSet/secondary-finding Version: 0.1.0
Draft as of 2023-03-04 Computable Name: GeneticObservationSecondaryFindings
Other Identifiers: id: urn: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

Logical Definition (CLD)

 

Expansion

This value set contains 2 concepts

Expansion based on Genetic Observation Secondary Findings v0.1.0 (CodeSystem)

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