國家級人體生物資料庫整合平台共同資料模式實作指引(NBCT Common Data Model IG)
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## : SSF6 肺癌-EGFR 基因突變代碼系統 - TTL Representation

Active as of 2024-08-01

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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:CodeSystem ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "ssf-6-lung-codesystem"] ; #
      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: CodeSystem ssf-6-lung-codesystem</b></p><a name=\"ssf-6-lung-codesystem\"> </a><a name=\"hcssf-6-lung-codesystem\"> </a><a name=\"ssf-6-lung-codesystem-en-US\"> </a><p>This case-sensitive code system <code>https://www.ghd.tw/cdm-fhir/fhir/CodeSystem/ssf-6-lung-codesystem</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">A<a name=\"ssf-6-lung-codesystem-A\"> </a></td><td>EGFR基因檢驗為Exon 19 deletion突變(包含多種subtypes)</td></tr><tr><td style=\"white-space:nowrap\">B<a name=\"ssf-6-lung-codesystem-B\"> </a></td><td>EGFR基因檢驗為Exon 21 L858R突變</td></tr><tr><td style=\"white-space:nowrap\">C<a name=\"ssf-6-lung-codesystem-C\"> </a></td><td>EGFR基因檢驗為Exon 18 E709突變(例如：E709A、E709G、E709V)</td></tr><tr><td style=\"white-space:nowrap\">D<a name=\"ssf-6-lung-codesystem-D\"> </a></td><td>EGFR基因檢驗為Exon 18 G719突變(例如：G719A、G719C、G719S)</td></tr><tr><td style=\"white-space:nowrap\">E<a name=\"ssf-6-lung-codesystem-E\"> </a></td><td>EGFR基因檢驗為Exon 20 insertion突變(包含多種subtypes)</td></tr><tr><td style=\"white-space:nowrap\">F<a name=\"ssf-6-lung-codesystem-F\"> </a></td><td>EGFR基因檢驗為Exon 20 S768I突變</td></tr><tr><td style=\"white-space:nowrap\">G<a name=\"ssf-6-lung-codesystem-G\"> </a></td><td>EGFR基因檢驗為Exon 20 T790M突變</td></tr><tr><td style=\"white-space:nowrap\">H<a name=\"ssf-6-lung-codesystem-H\"> </a></td><td>EGFR基因檢驗為Exon 21 L861突變</td></tr><tr><td style=\"white-space:nowrap\">U<a name=\"ssf-6-lung-codesystem-U\"> </a></td><td>EGFR基因檢驗為其他點突變(未列於上述表列之位點)</td></tr><tr><td style=\"white-space:nowrap\">V<a name=\"ssf-6-lung-codesystem-V\"> </a></td><td>EGFR基因檢驗結果有突變，但未描述何種點突變</td></tr><tr><td style=\"white-space:nowrap\">X<a name=\"ssf-6-lung-codesystem-X\"> </a></td><td>EGFR基因檢驗為無突變</td></tr><tr><td style=\"white-space:nowrap\">Z<a name=\"ssf-6-lung-codesystem-Z\"> </a></td><td>有進行EGFR基因檢驗，但結果無法判讀</td></tr><tr><td style=\"white-space:nowrap\">999<a name=\"ssf-6-lung-codesystem-999\"> </a></td><td>(1) 不知道是否有EGFR基因突變檢驗 (2) 有EGFR基因突變檢驗之醫囑，但病歷未呈現報告，不知個案是否有做 (3) 沒有檢驗</td></tr></table></div>"
      ] ; #
      fhir:url [ fhir:v "https://www.ghd.tw/cdm-fhir/fhir/CodeSystem/ssf-6-lung-codesystem"^^xsd:anyURI] ; #
      fhir:version [ fhir:v "0.1.0"] ; #
      fhir:name [ fhir:v "SSF6lungCS"] ; #
      fhir:title [ fhir:v "SSF6 肺癌-EGFR 基因突變代碼系統"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
      fhir:date [ fhir:v "2024-08-01T15:33:47+08:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "國家級人體生物資料庫整合平台"] ; #
      fhir:contact ( [
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://ghd.tw/" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "EGFR (Epidermal growth factor receptor ) Gene Mutation Code System"] ; #
      fhir:caseSensitive [ fhir:v "true"^^xsd:boolean] ; #
      fhir:content [ fhir:v "complete"] ; #
      fhir:count [ fhir:v "13"^^xsd:nonNegativeInteger] ; #
      fhir:concept ( [
    fhir:code [ fhir:v "A" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 19 deletion突變(包含多種subtypes)" ]
      ] [
    fhir:code [ fhir:v "B" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 21 L858R突變" ]
      ] [
    fhir:code [ fhir:v "C" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 18 E709突變(例如：E709A、E709G、E709V)" ]
      ] [
    fhir:code [ fhir:v "D" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 18 G719突變(例如：G719A、G719C、G719S)" ]
      ] [
    fhir:code [ fhir:v "E" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 20 insertion突變(包含多種subtypes)" ]
      ] [
    fhir:code [ fhir:v "F" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 20 S768I突變" ]
      ] [
    fhir:code [ fhir:v "G" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 20 T790M突變" ]
      ] [
    fhir:code [ fhir:v "H" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為Exon 21 L861突變" ]
      ] [
    fhir:code [ fhir:v "U" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為其他點突變(未列於上述表列之位點)" ]
      ] [
    fhir:code [ fhir:v "V" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗結果有突變，但未描述何種點突變" ]
      ] [
    fhir:code [ fhir:v "X" ] ;
    fhir:display [ fhir:v "EGFR基因檢驗為無突變" ]
      ] [
    fhir:code [ fhir:v "Z" ] ;
    fhir:display [ fhir:v "有進行EGFR基因檢驗，但結果無法判讀" ]
      ] [
    fhir:code [ fhir:v "999" ] ;
    fhir:display [ fhir:v "(1) 不知道是否有EGFR基因突變檢驗 (2) 有EGFR基因突變檢驗之醫囑，但病歷未呈現報告，不知個案是否有做 (3) 沒有檢驗" ]
      ] ) . #