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 - JSON Representation

Active as of 2024-12-12

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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><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>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs",
  "version" : "3.0.0",
  "name" : "MolecularBiomarkerCodeVS",
  "title" : "Molecular Biomarker Codes",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-12-12T20:13:16+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 Immune stain Ql (Breast cancer specimen)"
          },
          {
            "code" : "72382-5",
            "display" : "HER2 IA Qn (Tiss)"
          },
          {
            "code" : "77637-7",
            "display" : "HLA-A and B and C (class I) IgG panel IA [Identifier]"
          },
          {
            "code" : "40557-1",
            "display" : "Progesterone receptor Ag Immune stain Ql (Tiss)"
          },
          {
            "code" : "85147-7",
            "display" : "PD-L1 by clone 22C3 Immune stain Doc (Tiss)"
          },
          {
            "code" : "59025-7",
            "display" : "Neutrophil Ab FC Qn (S)"
          },
          {
            "code" : "59003-4",
            "display" : "Lactoferrin Ab IA Qn (S)"
          },
          {
            "code" : "10495-0",
            "display" : "Insulin Ag Immune stain Ql (Tiss)"
          },
          {
            "code" : "16550-6",
            "display" : "Carbohydrates Nom (U)"
          },
          {
            "code" : "2569-2",
            "display" : "Lipids (S) [Mass/Vol]"
          },
          {
            "code" : "4551-8",
            "display" : "Hemoglobin A2 (Bld) [Mass fraction]"
          },
          {
            "code" : "19195-7",
            "display" : "Prostate specific Ag Qn"
          },
          {
            "code" : "64083-9",
            "display" : "MGMT gene methylation score Molgen (Tiss) [Ratio]"
          },
          {
            "code" : "62862-8",
            "display" : "Microsatellite instability Immune stain Ql (Tiss)"
          },
          {
            "code" : "81704-9",
            "display" : "Microsatellite instability marker D17S250 Ql (Cancer specimen)"
          },
          {
            "code" : "94077-5",
            "display" : "Tumor mutation burden Ql (Tumor) [Interp]"
          }
        ]
      },
      {
        "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
        "concept" : [
          {
            "code" : "C120465",
            "display" : "Homologous Recombination Repair Deficiency"
          }
        ]
      }
    ]
  }
}