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 - JSON Representation

Active as of 2026-03-20

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{
  "resourceType" : "ValueSet",
  "id" : "amino-acid-change-type-vs",
  "text" : {
    "status" : "generated",
    "div" : "<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>"
  },
  "url" : "http://example.org/ValueSet/amino-acid-change-type-vs",
  "version" : "0.1.0",
  "name" : "AminoAcidChangeTypeVS",
  "title" : "胺基酸變異類型值集",
  "status" : "active",
  "experimental" : false,
  "date" : "2026-03-20",
  "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" : "胺基酸變異類型值集",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA9658-1",
            "display" : "Wild type"
          },
          {
            "code" : "LA6692-3",
            "display" : "Deletion"
          },
          {
            "code" : "LA6686-5",
            "display" : "Duplication"
          },
          {
            "code" : "LA6694-9",
            "display" : "Frameshift"
          },
          {
            "code" : "LA6695-6",
            "display" : "Initiating Methionine"
          },
          {
            "code" : "LA6687-3",
            "display" : "Insertion"
          },
          {
            "code" : "LA9659-9",
            "display" : "Insertion and Deletion"
          },
          {
            "code" : "LA6698-0",
            "display" : "Missense"
          },
          {
            "code" : "LA6699-8",
            "display" : "Nonsense"
          },
          {
            "code" : "LA6700-4",
            "display" : "Silent"
          },
          {
            "code" : "LA6701-2",
            "display" : "Stop Codon Mutation"
          }
        ]
      }
    ]
  }
}