臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0
臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0
This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="Composition_com-lung-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Composition-twngs.html">基因定序檢測證明文件-Composition TWNGSS Profile</a></p></div><p><b>狀態</b>：Final <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">(<a href="http://hl7.org/fhir/composition-status">CompositionStatus</a>#final)</span></p><p><b>申報類別</b>：送核 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="CodeSystem-nhi-apply-type.html">NHI-申報類別</a>#1)</span></p><p><b>案件分類</b>：西醫慢性病 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="CodeSystem-nhi-case-classification.html">NHI-案件分類</a>#04)</span></p><p><b>申報日期</b>：2024-07-25</p><p><b>病人</b>：<a href="Patient-pat-min.html">Patient/pat-min</a></p><p><b>醫事機構</b>：<a href="Organization-org-hosp-min.html">Organization/org-hosp-min</a></p><blockquote><p>相關證明文件</p><p><b>基因定序檢測報告</b>：<a href="DiagnosticReport-dia-lung-min.html">DiagnosticReport/dia-lung-min</a></p><p><b>疾病資訊</b>：<a href="Condition-con-lung-min.html">Condition/con-lung-min</a></p><p><b>基因檢測機構</b>：<a href="Organization-org-gene-min.html">Organization/org-gene-min</a></p><p><b>基因檢測檢體</b>：<a href="Specimen-spe-lung-min.html">Specimen/spe-lung-min</a></p><p><b>基因檢測裝置</b>：<a href="Device-dev-min.html">Device/dev-min</a></p><p><b>基因報告</b>：<a href="DocumentReference-doc-lung-min.html">DocumentReference/doc-lung-min</a></p><p><b>基因資訊</b>：<a href="Observation-obs-lung-min.html">Observation/obs-lung-min</a></p><p><b>基因定序檢測申請項目</b>：<a href="ServiceRequest-serReq-min.html">ServiceRequest/serReq-min</a></p></blockquote></div>
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<date value="2024-07-25"/>
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<title value="Lung adenocarcinoma 基因檢測報告之證明文件"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="DiagnosticReport_dia-lung-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-DiagnosticReport-twngs.html">基因定序檢測報告-DiagnosticReport TWNGS</a></p></div><p><b>狀態</b>：final</p><p><b>報告類型</b>：Genetic analysis report <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">(<a href="http://loinc.org">LOINC</a>#51969-4)</span></p><blockquote><p><b>病人</b>：<a href="Patient-pat-min.html">Patient/pat-min</a></p><p><b>疾病資訊</b>：<a href="Condition-con-lung-min.html">Condition/con-lung-min</a></p></blockquote><p><b>費用年月</b>：2024-07-20</p><p><b>基因資訊</b>：<a href="Observation-obs-lung-min.html">Observation/obs-lung-min</a></p><p><b>基因定序檢測申請項目</b>：<a href="ServiceRequest-serReq-min.html">ServiceRequest/serReq-min</a></p><p><b>報告醫事機構</b>：<a href="Organization-org-gene-min.html">Organization/org-gene-min</a></p></div>
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<effectiveDateTime value="2024-07-20"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="Condition_con-lung-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Condition-twngs.html">基因定序檢測報告之疾病資訊-Condition TWNGS</a></p></div><p><b>臨床狀態</b>：Active <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="http://terminology.hl7.org/CodeSystem/condition-clinical">ConditionClinicalStatusCodes</a>#active)</span></p><p><b>驗證狀態</b>：Confirmed <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="http://terminology.hl7.org/CodeSystem/condition-ver-status">ConditionVerificationStatus</a>#confirmed)</span></p><p><b>病情、問題或診斷分類</b>：Encounter Diagnosis <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="http://terminology.hl7.org/CodeSystem/condition-category">Condition Category Codes</a>#encounter-diagnosis)</span></p><p><b>病情、問題或診斷識別</b>：右側支氣管或肺惡性腫瘤 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw">臺灣2023年中文版ICD-10-CM</a>#C34.91)</span></p><p><b>病人</b>：<a href="Patient-pat-min.html">Patient/pat-min</a></p><p><b>診斷日期</b>：2024-07-10</p><p><b>申請理由</b>：完整 Foundation Medicine 檢測報告請看報告查詢系統中”分子病理室檢查報告之附件”，其內容包含腫瘤的基因突變、腫瘤突變負荷(TMB)、微衛星體不穩定性(MSI)相關資訊，並針對病患接受癌症標靶治療或免疫治療提供建議</p></div>
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<fullUrl value="https://nhicore.nhi.gov.tw/ngs/Patient/pat-min"/>
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<Patient>
<id value="pat-min"/>
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<text>
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<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="Patient_pat-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Patient-twngs.html">病人資訊-Patient TWNGS</a></p></div><blockquote><p><b>病歷號</b>：National Person Identifier <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">（ <a href="http://terminology.hl7.org/CodeSystem/v2-0203">Identifier Type Codes</a>#NNxxx）</span><br/><b>身分證字號（official）</b>：A123456789 （http://www.moi.gov.tw）</p></blockquote><blockquote><p><b>病歷號</b>：Medical record number <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">（ <a href="http://terminology.hl7.org/CodeSystem/v2-0203">Identifier Type Codes</a>#MR）</span><br/><b>病歷號（official）</b>：123456 （https://tpech.gov.taipei）</p></blockquote><p><b>姓名（usual）</b>：王大明</p><p><b>性別</b>：男</p><p><b>出生日期</b>：2001-01-01</p></div>
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<system value="https://tpech.gov.taipei"/>
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<text value="王大明"/>
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<gender value="male"/>
<birthDate value="2001-01-01"/>
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<entry>
<fullUrl
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<Organization>
<id value="org-hosp-min"/>
<meta>
<profile
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<text>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Organization_org-hosp-min"> </a><h3><b>醫事機構</b></h3><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">Profile: <a href="StructureDefinition-Organization-twngs.html">機構-Organization TWNGS</a></p></div><p><b>機構名稱</b>：佛教慈濟醫療財團法人花蓮慈濟醫院</p><p><b>識別碼型別</b>：Provider number<span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">（ <a href="http://terminology.hl7.org/CodeSystem/v2-0203">IdentifierType</a>#PRN）</span><br/><b>機構代碼（official）</b>：1145010010 (https://nhicore.nhi.gov.tw/ngs/CodeSystem/organization-identifier-tw)</p><p><b>機構種類</b>：Healthcare Provider <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki">( <a href="http://hl7.org/fhir/R4/codesystem-organization-type.html">OrganizationType</a>#prov)</span></p></div>
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<value value="1145010010"/>
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<name value="佛教慈濟醫療財團法人花蓮慈濟醫院"/>
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<entry>
<fullUrl
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<resource>
<Organization>
<id value="org-gene-min"/>
<meta>
<profile
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Organization_org-gene-min"> </a><h3><b>基因檢測機構</b></h3><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">Profile: <a href="StructureDefinition-Organization-gene-twngs.html">基因檢測機構-Organization Genetic Testing TWNGS</a></p></div><p><b>機構代碼</b>：2023LDTB0002 (https://dep.mohw.gov.tw)</p></div>
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<value value="2023LDTB0002"/>
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<entry>
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<Specimen>
<id value="spe-lung-min"/>
<meta>
<profile
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="Specimen_spe-lung-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Specimen-twngs.html">基因檢測檢體-Specimen TWNGS</a></p></div><p><b>檢體病理編號</b>：456-7567</p><p><b>檢體類型</b>：Tissue<span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://loinc.org/">LOINC-基因檢測檢體類型值集</a>#LP7641-6)</span></p><p><b>病人</b>：<a href="Patient-pat-min.html">Patient/pat-min</a></p><p><b>檢體採檢日期</b>：2024-7-20T09:00:00.000Z</p></div>
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<system value="http://loinc.org"/>
<code value="LP7641-6"/>
<display value="Tiss"/>
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<subject>🔗
<reference value="Patient/pat-min"/>
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<receivedTime value="2024-07-20T09:00:00.000Z"/>
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<fullUrl value="https://nhicore.nhi.gov.tw/ngs/Device/dev-min"/>
<resource>
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<id value="dev-min"/>
<meta>
<profile
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<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><a name="Device_dev-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Device-twngs.html">基因定序檢測裝置-Device TWNGS</a></p></div><p><b>基因定序儀名稱</b>：illumina</p><p><b>基因定序儀型號</b>：HiSeq 4000 System</p></div>
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<deviceName>
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<modelNumber value="HiSeq 4000 System"/>
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<entry>
<fullUrl
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<id value="doc-lung-min"/>
<meta>
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4;
border-radius: 5px; line-height: 60%"><a name="DocumentReference_doc-lung-min"> </a><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-DocumentReference-twngs.html">文件參照-DocumentReference TWNGS</a></p></div><p><b>狀態</b>：current</p><p><b>病人</b>：<a href="Patient-pat-min.html">Patient/pat-min</a> "王大明"</p><p><b>基因報告(application/pdf)</b>：file://GenReport01.pdf</p><p><b>基因報告名稱</b>：Lung adenocarcinoma 基因檢測</p></div>
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<title value="Lung adenocarcinoma 基因檢測"/>
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<entry>
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<Observation>
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