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

: 拷貝數變異判讀 - XML Representation

Active as of 2026-03-15

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="cnv-interpretation-cs"/>
  <text>
    <status value="generated"/>
    <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>
  </text>
  <url value="http://example.org/CodeSystem/cnv-interpretation-cs"/>
  <version value="0.1.0"/>
  <name value="CNVInterpretationCS"/>
  <title value="拷貝數變異判讀"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-03-15"/>
  <publisher value="衛生福利部中央健康保險署"/>
  <contact>
    <name value="衛生福利部中央健康保險署"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.nhi.gov.tw/ch/mp-1.html"/>
    </telecom>
  </contact>
  <description value="用於拷貝數變異判讀"/>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="7"/>
  <concept>
    <code value="amplification"/>
    <display value="Amplification"/>
  </concept>
  <concept>
    <code value="gain"/>
    <display value="Gain"/>
  </concept>
  <concept>
    <code value="duplication"/>
    <display value="Duplication"/>
  </concept>
  <concept>
    <code value="loss"/>
    <display value="Loss"/>
  </concept>
  <concept>
    <code value="deletion"/>
    <display value="Deletion"/>
  </concept>
  <concept>
    <code value="homozygous-deletion"/>
    <display value="Homozygous deletion"/>
  </concept>
  <concept>
    <code value="neutral"/>
    <display value="Neutral"/>
  </concept>
</CodeSystem>