臺灣次世代基因定序檢測實作指引
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: obs-variant-min - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "obs-variant-min",
  "meta" : {
    "profile" : [
      🔗 "http://example.org/StructureDefinition/Observation-variant-twngs"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-variant-min</b></p><a name=\"obs-variant-min\"> </a><a name=\"hcobs-variant-min\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-variant-twngs.html\">短序列DNA變異資訊-Observation Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDB}\">轉錄本資料庫名稱</span></p><p><b>value</b>: RefSeq</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDBVersion}\">轉錄本參考資料庫版本</span></p><p><b>value</b>: 115</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: NM_000038.6</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: c.4393_4394del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: APC</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: p.Ser1465fs</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 48.9 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6692-3}\">Deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: NC_000005.10</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: g.112839979_112839980del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs proteinRefId}\">蛋白質參考序列編號</span></p><p><b>value</b>: NP_000029.2</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs aminoAcidChangeType}\">胺基酸變異類型</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6694-9}\">Frameshift</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 440</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs totalReadDepth}\">變異區測序總讀數</span></p><p><b>value</b>: 900</p></blockquote></div>"
  },
  "status" : "final",
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/pat-min"
  },
  "effectiveDateTime" : "2024-01-01",
  "specimen" : {
    🔗 "reference" : "Specimen/spe-bld-min"
  },
  "device" : {
    🔗 "reference" : "Device/dev-min"
  },
  "derivedFrom" : [
    {
      🔗 "reference" : "DocumentReference/doc-gene-min"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://example.org/CodeSystem/genomic-variant-cs",
            "code" : "transcriptDB"
          }
        ]
      },
      "valueString" : "RefSeq"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://example.org/CodeSystem/genomic-variant-cs",
            "code" : "transcriptDBVersion"
          }
        ]
      },
      "valueString" : "115"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "51958-7"
          }
        ]
      },
      "valueString" : "NM_000038.6"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48004-6"
          }
        ]
      },
      "valueString" : "c.4393_4394del"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6"
          }
        ]
      },
      "valueString" : "APC"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48005-3"
          }
        ]
      },
      "valueString" : "p.Ser1465fs"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "81258-6"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 48.9,
        "unit" : "%",
        "system" : "http://unitsofmeasure.org",
        "code" : "%"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48019-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6692-3"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48013-7"
          }
        ]
      },
      "valueString" : "NC_000005.10"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "81290-9"
          }
        ]
      },
      "valueString" : "g.112839979_112839980del"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://example.org/CodeSystem/genomic-variant-cs",
            "code" : "proteinRefId"
          }
        ]
      },
      "valueString" : "NP_000029.2"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://example.org/CodeSystem/genomic-variant-cs",
            "code" : "aminoAcidChangeType"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6694-9"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "82121-5"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 440
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://example.org/CodeSystem/genomic-variant-cs",
            "code" : "totalReadDepth"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 900
      }
    }
  ]
}