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 - TTL Representation

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

Raw ttl | Download

    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
    @prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

    # - resource -------------------------------------------------------------------

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