Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

Page standards status: Trial-use | Maturity Level: 2

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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><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><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><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 [Presence] in Breast cancer specimen by Immune stain</td></tr><tr><td><a href="https://loinc.org/72382-5/">72382-5</a></td><td>HER2 [Units/volume] in Tissue by Immunoassay</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 [Identifier] - Serum or Plasma by Immunoassay</td></tr><tr><td><a href="https://loinc.org/40557-1/">40557-1</a></td><td>Progesterone receptor Ag [Presence] in Tissue by Immune stain</td></tr><tr><td><a href="https://loinc.org/85147-7/">85147-7</a></td><td>PD-L1 by clone 22C3 in Tissue by Immune stain Report</td></tr><tr><td><a href="https://loinc.org/59025-7/">59025-7</a></td><td>Neutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)</td></tr><tr><td><a href="https://loinc.org/59003-4/">59003-4</a></td><td>Lactoferrin Ab [Units/volume] in Serum by Immunoassay</td></tr><tr><td><a href="https://loinc.org/10495-0/">10495-0</a></td><td>Insulin Ag [Presence] in Tissue by Immune stain</td></tr><tr><td><a href="https://loinc.org/16550-6/">16550-6</a></td><td>Carbohydrates [Identifier] in Urine</td></tr><tr><td><a href="https://loinc.org/2569-2/">2569-2</a></td><td>Lipids [Mass/volume] in Serum</td></tr><tr><td><a href="https://loinc.org/4551-8/">4551-8</a></td><td>Hemoglobin A2/Hemoglobin.total in Blood</td></tr><tr><td><a href="https://loinc.org/19195-7/">19195-7</a></td><td>Prostate specific Ag [Units/volume] in Serum or Plasma</td></tr><tr><td><a href="https://loinc.org/64083-9/">64083-9</a></td><td>MGMT gene methylation score in Tissue by Molecular genetics method</td></tr><tr><td><a href="https://loinc.org/62862-8/">62862-8</a></td><td>Microsatellite instability [Presence] in Tissue by Immune stain</td></tr><tr><td><a href="https://loinc.org/81704-9/">81704-9</a></td><td>Microsatellite instability marker D17S250 in Cancer specimen Qualitative</td></tr><tr><td><a href="https://loinc.org/94077-5/">94077-5</a></td><td>Tumor mutation burden [Interpretation]</td></tr></table></li><li>Include these codes as defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-nciThesaurus.html"><code>http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl</code></a><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><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>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueInteger>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
        <valueCode value="trial-use">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs"/>
      <version value="4.0.0-cibuild"/>
      <name value="MolecularBiomarkerCodeVS"/>
      <title value="Molecular Biomarker Codes"/>
      <status value="active"/>
      <experimental value="false"/>
      <date value="2025-11-08T00:09:50+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 [Presence] in Breast cancer specimen by Immune stain"/>
          </concept>
          <concept>
            <code value="72382-5"/>
            <display value="HER2 [Units/volume] in Tissue by Immunoassay"/>
          </concept>
          <concept>
            <code value="77637-7"/>
            <display
                     value="HLA-A and B and C (class I) IgG panel [Identifier] - Serum or Plasma by Immunoassay"/>
          </concept>
          <concept>
            <code value="40557-1"/>
            <display
                     value="Progesterone receptor Ag [Presence] in Tissue by Immune stain"/>
          </concept>
          <concept>
            <code value="85147-7"/>
            <display
                     value="PD-L1 by clone 22C3 in Tissue by Immune stain Report"/>
          </concept>
          <concept>
            <code value="59025-7"/>
            <display
                     value="Neutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)"/>
          </concept>
          <concept>
            <code value="59003-4"/>
            <display
                     value="Lactoferrin Ab [Units/volume] in Serum by Immunoassay"/>
          </concept>
          <concept>
            <code value="10495-0"/>
            <display value="Insulin Ag [Presence] in Tissue by Immune stain"/>
          </concept>
          <concept>
            <code value="16550-6"/>
            <display value="Carbohydrates [Identifier] in Urine"/>
          </concept>
          <concept>
            <code value="2569-2"/>
            <display value="Lipids [Mass/volume] in Serum"/>
          </concept>
          <concept>
            <code value="4551-8"/>
            <display value="Hemoglobin A2/Hemoglobin.total in Blood"/>
          </concept>
          <concept>
            <code value="19195-7"/>
            <display
                     value="Prostate specific Ag [Units/volume] in Serum or Plasma"/>
          </concept>
          <concept>
            <code value="64083-9"/>
            <display
                     value="MGMT gene methylation score in Tissue by Molecular genetics method"/>
          </concept>
          <concept>
            <code value="62862-8"/>
            <display
                     value="Microsatellite instability [Presence] in Tissue by Immune stain"/>
          </concept>
          <concept>
            <code value="81704-9"/>
            <display
                     value="Microsatellite instability marker D17S250 in Cancer specimen Qualitative"/>
          </concept>
          <concept>
            <code value="94077-5"/>
            <display value="Tumor mutation burden [Interpretation]"/>
          </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>