Genomics Reporting Implementation Guide
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Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: Molecular Biomarker Codes - XML Representation

Active as of 2024-12-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="molecular-biomarker-code-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet molecular-biomarker-code-vs</b></p><a name="molecular-biomarker-code-vs"> </a><a name="hcmolecular-biomarker-code-vs"> </a><a name="molecular-biomarker-code-vs-en-US"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href="http://loinc.org"><code>http://loinc.org</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="https://loinc.org/85337-4/">85337-4</a></td><td>Estrogen receptor Ag Immune stain Ql (Breast cancer specimen)</td></tr><tr><td><a href="https://loinc.org/72382-5/">72382-5</a></td><td>HER2 IA Qn (Tiss)</td></tr><tr><td><a href="https://loinc.org/77637-7/">77637-7</a></td><td>HLA-A and B and C (class I) IgG panel IA [Identifier]</td></tr><tr><td><a href="https://loinc.org/40557-1/">40557-1</a></td><td>Progesterone receptor Ag Immune stain Ql (Tiss)</td></tr><tr><td><a href="https://loinc.org/85147-7/">85147-7</a></td><td>PD-L1 by clone 22C3 Immune stain Doc (Tiss)</td></tr><tr><td><a href="https://loinc.org/59025-7/">59025-7</a></td><td>Neutrophil Ab FC Qn (S)</td></tr><tr><td><a href="https://loinc.org/59003-4/">59003-4</a></td><td>Lactoferrin Ab IA Qn (S)</td></tr><tr><td><a href="https://loinc.org/10495-0/">10495-0</a></td><td>Insulin Ag Immune stain Ql (Tiss)</td></tr><tr><td><a href="https://loinc.org/16550-6/">16550-6</a></td><td>Carbohydrates Nom (U)</td></tr><tr><td><a href="https://loinc.org/2569-2/">2569-2</a></td><td>Lipids (S) [Mass/Vol]</td></tr><tr><td><a href="https://loinc.org/4551-8/">4551-8</a></td><td>Hemoglobin A2 (Bld) [Mass fraction]</td></tr><tr><td><a href="https://loinc.org/19195-7/">19195-7</a></td><td>Prostate specific Ag Qn</td></tr><tr><td><a href="https://loinc.org/64083-9/">64083-9</a></td><td>MGMT gene methylation score Molgen (Tiss) [Ratio]</td></tr><tr><td><a href="https://loinc.org/62862-8/">62862-8</a></td><td>Microsatellite instability Immune stain Ql (Tiss)</td></tr><tr><td><a href="https://loinc.org/81704-9/">81704-9</a></td><td>Microsatellite instability marker D17S250 Ql (Cancer specimen)</td></tr><tr><td><a href="https://loinc.org/94077-5/">94077-5</a></td><td>Tumor mutation burden Ql (Tumor) [Interp]</td></tr></table></li><li>Include these codes as defined in <a href="http://terminology.hl7.org/6.1.0/CodeSystem-v3-nciThesaurus.html"><code>http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>C120465</td><td>Homologous Recombination Repair Deficiency</td></tr></table></li></ul></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs"/>
  <version value="3.0.0"/>
  <name value="MolecularBiomarkerCodeVS"/>
  <title value="Molecular Biomarker Codes"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-12-12T20:13:16+00:00"/>
  <publisher value="HL7 International / Clinical Genomics"/>
  <contact>
    <name value="HL7 International / Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cg@lists.HL7.org"/>
    </telecom>
  </contact>
  <description value="Value Set for terms that can be used as Biomarkers."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <copyright
             value="This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.
This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="85337-4"/>
        <display
                 value="Estrogen receptor Ag Immune stain Ql (Breast cancer specimen)"/>
      </concept>
      <concept>
        <code value="72382-5"/>
        <display value="HER2 IA Qn (Tiss)"/>
      </concept>
      <concept>
        <code value="77637-7"/>
        <display
                 value="HLA-A and B and C (class I) IgG panel IA [Identifier]"/>
      </concept>
      <concept>
        <code value="40557-1"/>
        <display value="Progesterone receptor Ag Immune stain Ql (Tiss)"/>
      </concept>
      <concept>
        <code value="85147-7"/>
        <display value="PD-L1 by clone 22C3 Immune stain Doc (Tiss)"/>
      </concept>
      <concept>
        <code value="59025-7"/>
        <display value="Neutrophil Ab FC Qn (S)"/>
      </concept>
      <concept>
        <code value="59003-4"/>
        <display value="Lactoferrin Ab IA Qn (S)"/>
      </concept>
      <concept>
        <code value="10495-0"/>
        <display value="Insulin Ag Immune stain Ql (Tiss)"/>
      </concept>
      <concept>
        <code value="16550-6"/>
        <display value="Carbohydrates Nom (U)"/>
      </concept>
      <concept>
        <code value="2569-2"/>
        <display value="Lipids (S) [Mass/Vol]"/>
      </concept>
      <concept>
        <code value="4551-8"/>
        <display value="Hemoglobin A2 (Bld) [Mass fraction]"/>
      </concept>
      <concept>
        <code value="19195-7"/>
        <display value="Prostate specific Ag Qn"/>
      </concept>
      <concept>
        <code value="64083-9"/>
        <display value="MGMT gene methylation score Molgen (Tiss) [Ratio]"/>
      </concept>
      <concept>
        <code value="62862-8"/>
        <display value="Microsatellite instability Immune stain Ql (Tiss)"/>
      </concept>
      <concept>
        <code value="81704-9"/>
        <display
                 value="Microsatellite instability marker D17S250 Ql (Cancer specimen)"/>
      </concept>
      <concept>
        <code value="94077-5"/>
        <display value="Tumor mutation burden Ql (Tumor) [Interp]"/>
      </concept>
    </include>
    <include>
      <system value="http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"/>
      <concept>
        <code value="C120465"/>
        <display value="Homologous Recombination Repair Deficiency"/>
      </concept>
    </include>
  </compose>
</ValueSet>