臺灣健保署基礎實作指引
0.0.1 - ci-build

臺灣健保署基礎實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/base/ and changes regularly. See the Directory of published versions

## : 基因資訊 - TTL Representation

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix loinc: <https://loinc.org/rdf/> .
    @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:Observation ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "obs-diagnostic-min"] ; #
      fhir:meta [
        ( fhir:profile [
    fhir:v "https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase"^^xsd:anyURI ;
    fhir:l <https://nhicore.nhi.gov.tw/base/StructureDefinition/Observation-diagnostic-twnhibase>     ] )
      ] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-diagnostic-twnhibase.html\">基因資訊-Observation Diagnostic TWNHIBASE</a></p></div><p><b>狀態</b>：final</p><p><b>類型</b>：基因資訊<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-nhi-supporting-info-type.html/\">NHI-補充資訊類別值集</a>#geneInfo)</span></p><p><b>code</b>：Genetic variant assessment<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>病人</b>：<a href=\"Patient-pat-min.html\">Patient/pat-min</a></p><p><b>基因檢測日期</b>：2024-05-07</p><blockquote><p><b>基因檢測代碼</b>：KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">（ <a href=\"http://loinc.org/\">LOINC-基因檢測代碼值集</a>#21702-6）</span><br/><b>基因檢測實際結果</b>：KRAS 12 mutation: Not Detected, KRAS 13 mutation: Not Detected, KRAS 61 mutation: Not Detected<br/><b>基因突變類型</b>：Not detected <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">（ <a href=\"http://loinc.org/\">LOINC-基因突變類型值集</a>#LA11883-8）</span></p></blockquote><p><b>基因檢測機構</b>：<a href=\"Organization-org-gene-example.html\">Organization 2023LDTB0002</a></p><p><b>基因檢測分析結果</b>：基因檢測報告結果</p><p><b>基因臨床判讀結果</b>：Positive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation/\">ObservationInterpretationCodes </a>#POS)</span></p><p><b>基因檢測方法</b>：PCR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC Answer List LL4048-6 </a>#LA26418-6)</span></p><p><b>基因檢測檢體類型</b>：<a href=\"Specimen-spe-min.html\">Specimen/spe-min</a></p><p><b>基因報告</b>：<a href=\"DocumentReference-doc-gene-min.html\">DocumentReference/doc-gene-min</a></p></div>"^^rdf:XMLLiteral ]
      ] ; #
      fhir:status [ fhir:v "final"] ; #
      fhir:category ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type"^^xsd:anyURI ;
    fhir:l <https://nhicore.nhi.gov.tw/base/CodeSystem/nhi-supporting-info-type>       ] ;
    fhir:code [ fhir:v "geneInfo" ]     ] )
      ] ) ; #
      fhir:code [
        ( fhir:coding [
    a loinc:69548-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>       ] ;
    fhir:code [ fhir:v "69548-6" ]     ] )
      ] ; #
      fhir:subject [
    fhir:l fhir:Patient/pat-min ;
    fhir:reference [ fhir:v "Patient/pat-min" ]
      ] ; #
      fhir:effective [
    a fhir:DateTime ;
    fhir:v "2024-05-07"^^xsd:date
      ] ; #
      fhir:performer ( [
    fhir:l fhir:Organization/org-gene-example ;
    fhir:reference [ fhir:v "Organization/org-gene-example" ]
      ] ) ; #
      fhir:value [
    a fhir:String ;
    fhir:v "基因檢測報告結果"
      ] ; #
      fhir:interpretation ( [
        ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation>       ] ;
    fhir:code [ fhir:v "POS" ]     ] )
      ] ) ; #
      fhir:method [
        ( fhir:coding [
    a loinc:LA26418-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>       ] ;
    fhir:code [ fhir:v "LA26418-6" ]     ] )
      ] ; #
      fhir:specimen [
    fhir:l fhir:Specimen/spe-min ;
    fhir:reference [ fhir:v "Specimen/spe-min" ]
      ] ; #
      fhir:derivedFrom ( [
    fhir:l fhir:DocumentReference/doc-gene-min ;
    fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ]
      ] ) ; #
      fhir:component ( [
    fhir:code [
          ( fhir:coding [
    a loinc:21702-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    fhir:code [ fhir:v "21702-6" ]       ] )     ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "KRAS 12 mutation: Not Detected, KRAS 13 mutation: Not Detected, KRAS 61 mutation: Not Detected"     ] ;
        ( fhir:interpretation [
          ( fhir:coding [
    a loinc:LA11883-8 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>         ] ;
    fhir:code [ fhir:v "LA11883-8" ] ;
    fhir:display [ fhir:v "Not detected" ]       ] ) ;
    fhir:text [ fhir:v "Not detected" ]     ] )
      ] ) . #