臺灣次世代基因定序檢測實作指引
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: 基因變異類型代碼系統 - JSON Representation

Active as of 2026-03-15

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{
  "resourceType" : "CodeSystem",
  "id" : "genomic-variant-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-variant-cs</b></p><a name=\"genomic-variant-cs\"> </a><a name=\"hcgenomic-variant-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/genomic-variant-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\">transcriptDB<a name=\"genomic-variant-cs-transcriptDB\"> </a></td><td>轉錄本資料庫名稱</td></tr><tr><td style=\"white-space:nowrap\">transcriptDBVersion<a name=\"genomic-variant-cs-transcriptDBVersion\"> </a></td><td>轉錄本參考資料庫版本</td></tr><tr><td style=\"white-space:nowrap\">proteinRefId<a name=\"genomic-variant-cs-proteinRefId\"> </a></td><td>蛋白質參考序列編號</td></tr><tr><td style=\"white-space:nowrap\">totalReadDepth<a name=\"genomic-variant-cs-totalReadDepth\"> </a></td><td>變異區測序總讀數</td></tr><tr><td style=\"white-space:nowrap\">aminoAcidChangeType<a name=\"genomic-variant-cs-aminoAcidChangeType\"> </a></td><td>胺基酸變異類型</td></tr></table></div>"
  },
  "url" : "http://example.org/CodeSystem/genomic-variant-cs",
  "version" : "0.1.0",
  "name" : "GenomicVariantCS",
  "title" : "基因變異類型代碼系統",
  "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" : "描述基因變異類型，為非LOINC標準之代碼",
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 5,
  "concept" : [
    {
      "code" : "transcriptDB",
      "display" : "轉錄本資料庫名稱"
    },
    {
      "code" : "transcriptDBVersion",
      "display" : "轉錄本參考資料庫版本"
    },
    {
      "code" : "proteinRefId",
      "display" : "蛋白質參考序列編號"
    },
    {
      "code" : "totalReadDepth",
      "display" : "變異區測序總讀數"
    },
    {
      "code" : "aminoAcidChangeType",
      "display" : "胺基酸變異類型"
    }
  ]
}