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 - JSON Representation

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

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    {
      "resourceType" : "ValueSet",
      "id" : "molecular-biomarker-code-vs",
      "text" : {
        "status" : "generated",
        "div" : "<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>"
      },
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
          "valueCode" : "cg"
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
          "valueInteger" : 2,
          "_valueInteger" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "trial-use",
          "_valueCode" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs",
      "version" : "4.0.0-cibuild",
      "name" : "MolecularBiomarkerCodeVS",
      "title" : "Molecular Biomarker Codes",
      "status" : "active",
      "experimental" : false,
      "date" : "2025-11-08T00:09:50+00:00",
      "publisher" : "HL7 International / Clinical Genomics",
      "contact" : [
        {
          "name" : "HL7 International / Clinical Genomics",
          "telecom" : [
            {
              "system" : "url",
              "value" : "http://www.hl7.org/Special/committees/clingenomics"
            },
            {
              "system" : "email",
              "value" : "cg@lists.HL7.org"
            }
          ]
        }
      ],
      "description" : "Value Set for terms that can be used as Biomarkers.",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "001",
              "display" : "World"
            }
          ]
        }
      ],
      "copyright" : "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.\nThis 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" : "http://loinc.org",
            "concept" : [
              {
                "code" : "85337-4",
                "display" : "Estrogen receptor Ag [Presence] in Breast cancer specimen by Immune stain"
              },
              {
                "code" : "72382-5",
                "display" : "HER2 [Units/volume] in Tissue by Immunoassay"
              },
              {
                "code" : "77637-7",
                "display" : "HLA-A and B and C (class I) IgG panel [Identifier] - Serum or Plasma by Immunoassay"
              },
              {
                "code" : "40557-1",
                "display" : "Progesterone receptor Ag [Presence] in Tissue by Immune stain"
              },
              {
                "code" : "85147-7",
                "display" : "PD-L1 by clone 22C3 in Tissue by Immune stain Report"
              },
              {
                "code" : "59025-7",
                "display" : "Neutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)"
              },
              {
                "code" : "59003-4",
                "display" : "Lactoferrin Ab [Units/volume] in Serum by Immunoassay"
              },
              {
                "code" : "10495-0",
                "display" : "Insulin Ag [Presence] in Tissue by Immune stain"
              },
              {
                "code" : "16550-6",
                "display" : "Carbohydrates [Identifier] in Urine"
              },
              {
                "code" : "2569-2",
                "display" : "Lipids [Mass/volume] in Serum"
              },
              {
                "code" : "4551-8",
                "display" : "Hemoglobin A2/Hemoglobin.total in Blood"
              },
              {
                "code" : "19195-7",
                "display" : "Prostate specific Ag [Units/volume] in Serum or Plasma"
              },
              {
                "code" : "64083-9",
                "display" : "MGMT gene methylation score in Tissue by Molecular genetics method"
              },
              {
                "code" : "62862-8",
                "display" : "Microsatellite instability [Presence] in Tissue by Immune stain"
              },
              {
                "code" : "81704-9",
                "display" : "Microsatellite instability marker D17S250 in Cancer specimen Qualitative"
              },
              {
                "code" : "94077-5",
                "display" : "Tumor mutation burden [Interpretation]"
              }
            ]
          },
          {
            "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
            "concept" : [
              {
                "code" : "C120465",
                "display" : "Homologous Recombination Repair Deficiency"
              }
            ]
          }
        ]
      }
    }