臺灣次世代基因定序檢測實作指引
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: 胺基酸變異類型值集 - XML Representation

Active as of 2026-03-20

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="amino-acid-change-type-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet amino-acid-change-type-vs</b></p><a name="amino-acid-change-type-vs"> </a><a name="hcamino-acid-change-type-vs"> </a><ul><li>Include these codes as defined in <a href="http://loinc.org"><code>http://loinc.org</code></a><span title="Version is not explicitly stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="https://loinc.org/LA9658-1/">LA9658-1</a></td><td>Wild type</td></tr><tr><td><a href="https://loinc.org/LA6692-3/">LA6692-3</a></td><td>Deletion</td></tr><tr><td><a href="https://loinc.org/LA6686-5/">LA6686-5</a></td><td>Duplication</td></tr><tr><td><a href="https://loinc.org/LA6694-9/">LA6694-9</a></td><td>Frameshift</td></tr><tr><td><a href="https://loinc.org/LA6695-6/">LA6695-6</a></td><td>Initiating Methionine</td></tr><tr><td><a href="https://loinc.org/LA6687-3/">LA6687-3</a></td><td>Insertion</td></tr><tr><td><a href="https://loinc.org/LA9659-9/">LA9659-9</a></td><td>Insertion and Deletion</td></tr><tr><td><a href="https://loinc.org/LA6698-0/">LA6698-0</a></td><td>Missense</td></tr><tr><td><a href="https://loinc.org/LA6699-8/">LA6699-8</a></td><td>Nonsense</td></tr><tr><td><a href="https://loinc.org/LA6700-4/">LA6700-4</a></td><td>Silent</td></tr><tr><td><a href="https://loinc.org/LA6701-2/">LA6701-2</a></td><td>Stop Codon Mutation</td></tr></table></li></ul></div>
  </text>
  <url value="http://example.org/ValueSet/amino-acid-change-type-vs"/>
  <version value="0.1.0"/>
  <name value="AminoAcidChangeTypeVS"/>
  <title value="胺基酸變異類型值集"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-03-20"/>
  <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="胺基酸變異類型值集"/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA9658-1"/>
        <display value="Wild type"/>
      </concept>
      <concept>
        <code value="LA6692-3"/>
        <display value="Deletion"/>
      </concept>
      <concept>
        <code value="LA6686-5"/>
        <display value="Duplication"/>
      </concept>
      <concept>
        <code value="LA6694-9"/>
        <display value="Frameshift"/>
      </concept>
      <concept>
        <code value="LA6695-6"/>
        <display value="Initiating Methionine"/>
      </concept>
      <concept>
        <code value="LA6687-3"/>
        <display value="Insertion"/>
      </concept>
      <concept>
        <code value="LA9659-9"/>
        <display value="Insertion and Deletion"/>
      </concept>
      <concept>
        <code value="LA6698-0"/>
        <display value="Missense"/>
      </concept>
      <concept>
        <code value="LA6699-8"/>
        <display value="Nonsense"/>
      </concept>
      <concept>
        <code value="LA6700-4"/>
        <display value="Silent"/>
      </concept>
      <concept>
        <code value="LA6701-2"/>
        <display value="Stop Codon Mutation"/>
      </concept>
    </include>
  </compose>
</ValueSet>