臺灣次世代基因定序檢測實作指引
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: 拷貝數變異判讀 - JSON Representation

Active as of 2026-03-15

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{
  "resourceType" : "CodeSystem",
  "id" : "cnv-interpretation-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem cnv-interpretation-cs</b></p><a name=\"cnv-interpretation-cs\"> </a><a name=\"hccnv-interpretation-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/cnv-interpretation-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\">amplification<a name=\"cnv-interpretation-cs-amplification\"> </a></td><td>Amplification</td></tr><tr><td style=\"white-space:nowrap\">gain<a name=\"cnv-interpretation-cs-gain\"> </a></td><td>Gain</td></tr><tr><td style=\"white-space:nowrap\">duplication<a name=\"cnv-interpretation-cs-duplication\"> </a></td><td>Duplication</td></tr><tr><td style=\"white-space:nowrap\">loss<a name=\"cnv-interpretation-cs-loss\"> </a></td><td>Loss</td></tr><tr><td style=\"white-space:nowrap\">deletion<a name=\"cnv-interpretation-cs-deletion\"> </a></td><td>Deletion</td></tr><tr><td style=\"white-space:nowrap\">homozygous-deletion<a name=\"cnv-interpretation-cs-homozygous-deletion\"> </a></td><td>Homozygous deletion</td></tr><tr><td style=\"white-space:nowrap\">neutral<a name=\"cnv-interpretation-cs-neutral\"> </a></td><td>Neutral</td></tr></table></div>"
  },
  "url" : "http://example.org/CodeSystem/cnv-interpretation-cs",
  "version" : "0.1.0",
  "name" : "CNVInterpretationCS",
  "title" : "拷貝數變異判讀",
  "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" : "用於拷貝數變異判讀",
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 7,
  "concept" : [
    {
      "code" : "amplification",
      "display" : "Amplification"
    },
    {
      "code" : "gain",
      "display" : "Gain"
    },
    {
      "code" : "duplication",
      "display" : "Duplication"
    },
    {
      "code" : "loss",
      "display" : "Loss"
    },
    {
      "code" : "deletion",
      "display" : "Deletion"
    },
    {
      "code" : "homozygous-deletion",
      "display" : "Homozygous deletion"
    },
    {
      "code" : "neutral",
      "display" : "Neutral"
    }
  ]
}