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(v4.3.0:
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Normative
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Maturity Level : N/A | Standards Status : Informative |
Raw XML ( canonical form + also see XML Format Specification )
Definition
for
Code
System
ObservationCategoryCodes
SystemGeneticObservationSecondaryFindings
<?xml version="1.0" encoding="UTF-8"?> <CodeSystem xmlns="http://hl7.org/fhir"> <id value="secondary-finding"/> <meta><lastUpdated value="2022-05-28T12:47:40.239+10:00"/> <profile value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml">Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.<p> This code system http://hl7.org/fhir/secondary-finding 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> <url value="http://hl7.org/fhir/secondary-finding"/> <identifier> <system value="urn:ietf:rfc:3986"/><value value="urn:oid:2.16.840.1.113883.4.642.1.1286"/> </identifier><version value="4.3.0"/> <name value="GeneticObservationSecondaryFindings"/> <title value="Genetic Observation Secondary Findings"/> <status value="draft"/> <experimental value="false"/><description value="Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding."/> <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 >
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.