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 - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@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 "<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>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
] ) ; #
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs"^^xsd:anyURI] ; #
fhir:version [ fhir:v "3.0.0"] ; #
fhir:name [ fhir:v "MolecularBiomarkerCodeVS"] ; #
fhir:title [ fhir:v "Molecular Biomarker Codes"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-12-12T20:13:16+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: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:concept [
fhir:code [ fhir:v "85337-4" ] ;
fhir:display [ fhir:v "Estrogen receptor Ag Immune stain Ql (Breast cancer specimen)" ] ] [
fhir:code [ fhir:v "72382-5" ] ;
fhir:display [ fhir:v "HER2 IA Qn (Tiss)" ] ] [
fhir:code [ fhir:v "77637-7" ] ;
fhir:display [ fhir:v "HLA-A and B and C (class I) IgG panel IA [Identifier]" ] ] [
fhir:code [ fhir:v "40557-1" ] ;
fhir:display [ fhir:v "Progesterone receptor Ag Immune stain Ql (Tiss)" ] ] [
fhir:code [ fhir:v "85147-7" ] ;
fhir:display [ fhir:v "PD-L1 by clone 22C3 Immune stain Doc (Tiss)" ] ] [
fhir:code [ fhir:v "59025-7" ] ;
fhir:display [ fhir:v "Neutrophil Ab FC Qn (S)" ] ] [
fhir:code [ fhir:v "59003-4" ] ;
fhir:display [ fhir:v "Lactoferrin Ab IA Qn (S)" ] ] [
fhir:code [ fhir:v "10495-0" ] ;
fhir:display [ fhir:v "Insulin Ag Immune stain Ql (Tiss)" ] ] [
fhir:code [ fhir:v "16550-6" ] ;
fhir:display [ fhir:v "Carbohydrates Nom (U)" ] ] [
fhir:code [ fhir:v "2569-2" ] ;
fhir:display [ fhir:v "Lipids (S) [Mass/Vol]" ] ] [
fhir:code [ fhir:v "4551-8" ] ;
fhir:display [ fhir:v "Hemoglobin A2 (Bld) [Mass fraction]" ] ] [
fhir:code [ fhir:v "19195-7" ] ;
fhir:display [ fhir:v "Prostate specific Ag Qn" ] ] [
fhir:code [ fhir:v "64083-9" ] ;
fhir:display [ fhir:v "MGMT gene methylation score Molgen (Tiss) [Ratio]" ] ] [
fhir:code [ fhir:v "62862-8" ] ;
fhir:display [ fhir:v "Microsatellite instability Immune stain Ql (Tiss)" ] ] [
fhir:code [ fhir:v "81704-9" ] ;
fhir:display [ fhir:v "Microsatellite instability marker D17S250 Ql (Cancer specimen)" ] ] [
fhir:code [ fhir:v "94077-5" ] ;
fhir:display [ fhir:v "Tumor mutation burden Ql (Tumor) [Interp]" ] ] ) ] [
fhir:system [ fhir:v "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "C120465" ] ;
fhir:display [ fhir:v "Homologous Recombination Repair Deficiency" ] ] ) ] )
] . #
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