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. For a full list of available versions, see the Directory of published versions

: Genetic Observation Secondary Findings Code System - XML Representation

Page standards status: Trial-use Maturity Level: 3

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="secondary-finding"/>
  <meta>
    <lastUpdated value="2023-01-31T07:07:38.434+11:00"/>
    <profile
             value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This case-sensitive code system <code>http://hl7.org/fhir/secondary-finding</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">acmg-version1<a name="secondary-finding-acmg-version1"> </a></td><td>ACMG Version 1</td><td>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/</td></tr><tr><td style="white-space:nowrap">acmg-version2<a name="secondary-finding-acmg-version2"> </a></td><td>ACMG Version 2</td><td>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</td></tr></table></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="oo"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="trial-use"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="3"/>
  </extension>
  <url value="http://hl7.org/fhir/secondary-finding"/>
  <identifier>
    <system value="urn:ietf:rfc:3986"/>
    <value value="urn:oid:2.16.840.1.113883.4.642.4.1286"/>
  </identifier>
  <version value="5.1.0"/>
  <name value="GeneticObservationSecondaryFindings"/>
  <title value="Genetic Observation Secondary Findings Code System"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-04-27T18:54:50+10:00"/>
  <publisher value="HL7 International / Orders and Observations"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/orders"/>
    </telecom>
  </contact>
  <description
               value="Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <valueSet value="http://hl7.org/fhir/ValueSet/secondary-finding"/>
  <content value="complete"/>
  <concept>
    <code value="acmg-version1"/>
    <display value="ACMG Version 1"/>
    <definition
                value="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/"/>
  </concept>
  <concept>
    <code value="acmg-version2"/>
    <display value="ACMG Version 2"/>
    <definition
                value="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"/>
  </concept>
</CodeSystem>