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

## : Genetic Therapeutic Implications - TTL Representation

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

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    @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 "genetic-therapeutic-implications-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 genetic-therapeutic-implications-vs</b></p><a name=\"genetic-therapeutic-implications-vs\"> </a><a name=\"hcgenetic-therapeutic-implications-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/LA10315-2/\">LA10315-2</a></td><td>Ultrarapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25391-6/\">LA25391-6</a></td><td>Normal metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25390-8/\">LA25390-8</a></td><td>Rapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA10317-8/\">LA10317-8</a></td><td>Intermediate metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA9657-3/\">LA9657-3</a></td><td>Poor metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA19542-2/\">LA19542-2</a></td><td>Low Risk</td></tr><tr><td><a href=\"https://loinc.org/LA19541-4/\">LA19541-4</a></td><td>High Risk</td></tr><tr><td><a href=\"https://loinc.org/LA6676-6/\">LA6676-6</a></td><td>Resistant</td></tr><tr><td><a href=\"https://loinc.org/LA6677-4/\">LA6677-4</a></td><td>Responsive</td></tr><tr><td><a href=\"https://loinc.org/LA9660-7/\">LA9660-7</a></td><td>Presumed resistant</td></tr><tr><td><a href=\"https://loinc.org/LA9661-5/\">LA9661-5</a></td><td>Presumed responsive</td></tr><tr><td><a href=\"https://loinc.org/LA6682-4/\">LA6682-4</a></td><td>Unknown Significance</td></tr><tr><td><a href=\"https://loinc.org/LA6675-8/\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"https://loinc.org/LA6674-1/\">LA6674-1</a></td><td>Presumed Benign</td></tr><tr><td><a href=\"https://loinc.org/LA9662-3/\">LA9662-3</a></td><td>Presumed non-responsive</td></tr><tr><td><a href=\"https://loinc.org/LA25392-4/\">LA25392-4</a></td><td>Increased function</td></tr><tr><td><a href=\"https://loinc.org/LA25393-2/\">LA25393-2</a></td><td>Normal function</td></tr><tr><td><a href=\"https://loinc.org/LA25395-7/\">LA25395-7</a></td><td>Decreased function</td></tr><tr><td><a href=\"https://loinc.org/LA25394-0/\">LA25394-0</a></td><td>Poor function</td></tr></table></li><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</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=\"http://snomed.info/id/444734003\">444734003</a></td><td>Does not meet eligibility criteria for clinical trial (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/399223003\">399223003</a></td><td>Patient eligible for clinical trial (finding)</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/genetic-therapeutic-implications-vs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs>
      ] ; #
      fhir:version [ fhir:v "4.0.0-cibuild"] ; #
      fhir:name [ fhir:v "GeneticTherapeuticImplicationsVS"] ; #
      fhir:title [ fhir:v "Genetic Therapeutic Implications"] ; #
      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 describe a predicted ramification based on the presence of associated molecular finding(s)."] ; #
      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 "LA10315-2" ] ;
    fhir:display [ fhir:v "Ultrarapid metabolizer" ]       ] [
    fhir:code [ fhir:v "LA25391-6" ] ;
    fhir:display [ fhir:v "Normal metabolizer" ]       ] [
    fhir:code [ fhir:v "LA25390-8" ] ;
    fhir:display [ fhir:v "Rapid metabolizer" ]       ] [
    fhir:code [ fhir:v "LA10317-8" ] ;
    fhir:display [ fhir:v "Intermediate metabolizer" ]       ] [
    fhir:code [ fhir:v "LA9657-3" ] ;
    fhir:display [ fhir:v "Poor metabolizer" ]       ] [
    fhir:code [ fhir:v "LA19542-2" ] ;
    fhir:display [ fhir:v "Low Risk" ]       ] [
    fhir:code [ fhir:v "LA19541-4" ] ;
    fhir:display [ fhir:v "High Risk" ]       ] [
    fhir:code [ fhir:v "LA6676-6" ] ;
    fhir:display [ fhir:v "Resistant" ]       ] [
    fhir:code [ fhir:v "LA6677-4" ] ;
    fhir:display [ fhir:v "Responsive" ]       ] [
    fhir:code [ fhir:v "LA9660-7" ] ;
    fhir:display [ fhir:v "Presumed resistant" ]       ] [
    fhir:code [ fhir:v "LA9661-5" ] ;
    fhir:display [ fhir:v "Presumed responsive" ]       ] [
    fhir:code [ fhir:v "LA6682-4" ] ;
    fhir:display [ fhir:v "Unknown Significance" ]       ] [
    fhir:code [ fhir:v "LA6675-8" ] ;
    fhir:display [ fhir:v "Benign" ]       ] [
    fhir:code [ fhir:v "LA6674-1" ] ;
    fhir:display [ fhir:v "Presumed Benign" ]       ] [
    fhir:code [ fhir:v "LA9662-3" ] ;
    fhir:display [ fhir:v "Presumed non-responsive" ]       ] [
    fhir:code [ fhir:v "LA25392-4" ] ;
    fhir:display [ fhir:v "Increased function" ]       ] [
    fhir:code [ fhir:v "LA25393-2" ] ;
    fhir:display [ fhir:v "Normal function" ]       ] [
    fhir:code [ fhir:v "LA25395-7" ] ;
    fhir:display [ fhir:v "Decreased function" ]       ] [
    fhir:code [ fhir:v "LA25394-0" ] ;
    fhir:display [ fhir:v "Poor function" ]       ] )     ] [
    fhir:system [
    fhir:v "http://snomed.info/sct"^^xsd:anyURI ;
    fhir:l <http://snomed.info/sct>       ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "444734003" ] ;
    fhir:display [ fhir:v "Does not meet eligibility criteria for clinical trial (finding)" ]       ] [
    fhir:code [ fhir:v "399223003" ] ;
    fhir:display [ fhir:v "Patient eligible for clinical trial (finding)" ]       ] )     ] )
      ] . #