臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build

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

: 基因檢測方式與品質資訊代碼系統 - JSON Representation

Active as of 2026-03-15

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{
  "resourceType" : "CodeSystem",
  "id" : "gene-test-info-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem gene-test-info-cs</b></p><a name=\"gene-test-info-cs\"> </a><a name=\"hcgene-test-info-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/gene-test-info-cs</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\">testGeneList<a name=\"gene-test-info-cs-testGeneList\"> </a></td><td>完整基因清單</td></tr><tr><td style=\"white-space:nowrap\">testTargetGeneNumber<a name=\"gene-test-info-cs-testTargetGeneNumber\"> </a></td><td>檢測目標基因個數</td></tr><tr><td style=\"white-space:nowrap\">ngsLibraryPrepKit<a name=\"gene-test-info-cs-ngsLibraryPrepKit\"> </a></td><td>建庫試劑組廠牌</td></tr><tr><td style=\"white-space:nowrap\">geneTestTotalReads<a name=\"gene-test-info-cs-geneTestTotalReads\"> </a></td><td>定序總讀數</td></tr><tr><td style=\"white-space:nowrap\">geneTestMeanDepth<a name=\"gene-test-info-cs-geneTestMeanDepth\"> </a></td><td>平均測序深度</td></tr><tr><td style=\"white-space:nowrap\">refSeqAssemblyVersion<a name=\"gene-test-info-cs-refSeqAssemblyVersion\"> </a></td><td>人類參考基因組版本</td></tr><tr><td style=\"white-space:nowrap\">percentMappedReads<a name=\"gene-test-info-cs-percentMappedReads\"> </a></td><td>對準成功率</td></tr><tr><td style=\"white-space:nowrap\">tumorGeneVarAssessment<a name=\"gene-test-info-cs-tumorGeneVarAssessment\"> </a></td><td>腫瘤基因檢測數據判讀</td></tr><tr><td style=\"white-space:nowrap\">clinicalInterpretation<a name=\"gene-test-info-cs-clinicalInterpretation\"> </a></td><td>基因臨床判讀結果</td></tr></table></div>"
  },
  "url" : "http://example.org/CodeSystem/gene-test-info-cs",
  "version" : "0.1.0",
  "name" : "GeneTestInfoCS",
  "title" : "基因檢測方式與品質資訊代碼系統",
  "status" : "active",
  "experimental" : false,
  "date" : "2026-03-15",
  "publisher" : "衛生福利部中央健康保險署",
  "contact" : [
    {
      "name" : "衛生福利部中央健康保險署",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nhi.gov.tw/ch/mp-1.html"
        }
      ]
    }
  ],
  "description" : "基因檢測方式與品質資訊代碼系統",
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 9,
  "concept" : [
    {
      "code" : "testGeneList",
      "display" : "完整基因清單"
    },
    {
      "code" : "testTargetGeneNumber",
      "display" : "檢測目標基因個數"
    },
    {
      "code" : "ngsLibraryPrepKit",
      "display" : "建庫試劑組廠牌"
    },
    {
      "code" : "geneTestTotalReads",
      "display" : "定序總讀數"
    },
    {
      "code" : "geneTestMeanDepth",
      "display" : "平均測序深度"
    },
    {
      "code" : "refSeqAssemblyVersion",
      "display" : "人類參考基因組版本"
    },
    {
      "code" : "percentMappedReads",
      "display" : "對準成功率"
    },
    {
      "code" : "tumorGeneVarAssessment",
      "display" : "腫瘤基因檢測數據判讀"
    },
    {
      "code" : "clinicalInterpretation",
      "display" : "基因臨床判讀結果"
    }
  ]
}