臺灣次世代基因定序檢測實作指引
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臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: obs-geneinfo-min - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="obs-geneinfo-min"/>
  <meta>
    <profile
             value="http://example.org/StructureDefinition/Observation-geneInfo-twngs"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation obs-geneinfo-min</b></p><a name="obs-geneinfo-min"> </a><a name="hcobs-geneinfo-min"> </a><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"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Observation-geneInfo-twngs.html">基因資訊-Observation GeneInfo TWNGS</a></p></div><p><b>identifier</b>: <code>http://example.org/identifier/case-number</code>/123456</p><p><b>status</b>: Final</p><p><b>code</b>: <span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span></p><p><b>subject</b>: <a href="Patient-pat-min.html">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href="Specimen-spe-bld-min.html">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href="Device-dev-min.html">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href="DocumentReference-doc-gene-min.html">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs testGeneList}">完整基因清單</span></p><p><b>value</b>: HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs testTargetGeneNumber}">檢測目標基因個數</span></p><p><b>value</b>: 15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs ngsLibraryPrepKit}">建庫試劑組廠牌</span></p><p><b>value</b>: Ion Xpress™ Plus Fragment Library Kit</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestTotalReads}">定序總讀數</span></p><p><b>value</b>: 2654265</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestMeanDepth}">平均測序深度</span></p><p><b>value</b>: 456 x</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs refSeqAssemblyVersion}">人類參考基因組版本</span></p><p><b>value</b>: GRCh38</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs percentMappedReads}">對準成功率</span></p><p><b>value</b>: 96.4 %<span style="background: LightGoldenRodYellow"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs tumorGeneVarAssessment}">腫瘤基因檢測數據判讀</span></p><p><b>value</b>: <span title="Codes:{http://example.org/CodeSystem/tumor-gene-test-assessment-cs present}">present</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://example.org/CodeSystem/gene-test-info-cs clinicalInterpretation}">基因臨床判讀結果</span></p><p><b>value</b>: 文字描述臨床判讀結果</p></blockquote></div>
  </text>
  <identifier>
    <system value="http://example.org/identifier/case-number"/>
    <value value="123456"/>
  </identifier>
  <status value="final"/>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="51969-4"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/pat-min"/>
  </subject>
  <effectiveDateTime value="2024-01-01"/>
  <specimen>🔗 
    <reference value="Specimen/spe-bld-min"/>
  </specimen>
  <device>🔗 
    <reference value="Device/dev-min"/>
  </device>
  <derivedFrom>🔗 
    <reference value="DocumentReference/doc-gene-min"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="testGeneList"/>
      </coding>
    </code>
    <valueString
                 value="HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="testTargetGeneNumber"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="15"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="ngsLibraryPrepKit"/>
      </coding>
    </code>
    <valueString value="Ion Xpress™ Plus Fragment Library Kit"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="geneTestTotalReads"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="2654265"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="geneTestMeanDepth"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="456"/>
      <unit value="x"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="refSeqAssemblyVersion"/>
      </coding>
    </code>
    <valueString value="GRCh38"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="percentMappedReads"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="96.4"/>
      <unit value="%"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="%"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="tumorGeneVarAssessment"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system
                value="http://example.org/CodeSystem/tumor-gene-test-assessment-cs"/>
        <code value="present"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://example.org/CodeSystem/gene-test-info-cs"/>
        <code value="clinicalInterpretation"/>
      </coding>
    </code>
    <valueString value="文字描述臨床判讀結果"/>
  </component>
</Observation>