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

: 上傳 Lung adenocarcinoma 基因檢測結果資料 - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Bundle ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "bun-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Bundle-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Bundle-twngs>     ] )
  ] ; # 
  fhir:identifier [
fhir:system [ fhir:v "https://www.nhi.gov.tw"^^xsd:anyURI ] ;
fhir:value [ fhir:v "789123" ]
  ] ; # 
  fhir:type [ fhir:v "document"] ; # 
  fhir:timestamp [ fhir:v "2024-07-25T13:50:58.000+08:00"^^xsd:dateTime] ; # 
  fhir:entry ( [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Composition/com-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Composition/com-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Condition/con-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Condition/con-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Patient/pat-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Patient/pat-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Organization/org-gene-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Organization/org-gene-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Specimen/spe-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Specimen/spe-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Device/dev-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Device/dev-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/Observation/obs-lung-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/Observation/obs-lung-min> )
  ] [
fhir:fullUrl [ fhir:v "https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min"^^xsd:anyURI ] ;
    ( fhir:resource <https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min> )
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/Composition/com-lung-min> a fhir:Composition ;
  fhir:id [ fhir:v "com-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Composition-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Composition-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:type [
    ( fhir:coding [
fhir:system [ fhir:v "https://nhicore.nhi.gov.tw/ngs/CodeSystem/nhi-apply-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "1" ] ;
fhir:display [ fhir:v "送核" ]     ] )
  ] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "https://nhicore.nhi.gov.tw/ngs/CodeSystem/nhi-case-classification"^^xsd:anyURI ] ;
fhir:code [ fhir:v "04" ] ;
fhir:display [ fhir:v "西醫慢性病" ]     ] )
  ] ) ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:date [ fhir:v "2024-07-25"^^xsd:date] ; # 
  fhir:author ( [
fhir:reference [ fhir:v "Organization/org-hosp-min" ]
  ] ) ; # 
  fhir:title [ fhir:v "Lung adenocarcinoma 基因檢測報告之證明文件"] ; # 
  fhir:section ( [
    ( fhir:entry [
fhir:reference [ fhir:v "DiagnosticReport/dia-lung-min" ]     ] [
fhir:reference [ fhir:v "Condition/con-lung-min" ]     ] [
fhir:reference [ fhir:v "Organization/org-gene-min" ]     ] [
fhir:reference [ fhir:v "Specimen/spe-lung-min" ]     ] [
fhir:reference [ fhir:v "Device/dev-min" ]     ] [
fhir:reference [ fhir:v "DocumentReference/doc-lung-min" ]     ] [
fhir:reference [ fhir:v "Observation/obs-lung-min" ]     ] [
fhir:reference [ fhir:v "ServiceRequest/serReq-min" ]     ] )
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-lung-min> a fhir:DiagnosticReport ;
  fhir:id [ fhir:v "dia-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DiagnosticReport-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DiagnosticReport-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Condition/con-lung-min" ]     ]
  ] ) ; # 
  fhir:basedOn ( [
fhir:reference [ fhir:v "ServiceRequest/serReq-min" ]
  ] ) ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:code [
    ( fhir:coding [
a loinc:51969-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "51969-4" ] ;
fhir:display [ fhir:v "Genetic analysis report" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:effective [
a fhir:dateTime ;
fhir:v "2024-07-20"^^xsd:date
  ] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/org-gene-min" ]
  ] ) ; # 
  fhir:result ( [
fhir:reference [ fhir:v "Observation/obs-lung-min" ]
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/Condition/con-lung-min> a fhir:Condition ;
  fhir:id [ fhir:v "con-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Condition-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Condition-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:clinicalStatus [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/condition-clinical"^^xsd:anyURI ] ;
fhir:code [ fhir:v "active" ]     ] )
  ] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/condition-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "encounter-diagnosis" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw"^^xsd:anyURI ] ;
fhir:code [ fhir:v "C34.91" ] ;
fhir:display [ fhir:v "右側支氣管或肺惡性腫瘤" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:recordedDate [ fhir:v "2024-07-10"^^xsd:date] ; # 
  fhir:note ( [
fhir:text [ fhir:v "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" ]
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/Patient/pat-min> a fhir:Patient ;
  fhir:id [ fhir:v "pat-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Patient-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Patient-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:use [ fhir:v "official" ] ;
fhir:type [
      ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0203"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NNxxx" ]       ] )     ] ;
fhir:system [ fhir:v "http://www.moi.gov.tw"^^xsd:anyURI ] ;
fhir:value [ fhir:v "A123456789" ]
  ] [
fhir:use [ fhir:v "official" ] ;
fhir:type [
      ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0203"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MR" ]       ] )     ] ;
fhir:system [ fhir:v "https://tpech.gov.taipei"^^xsd:anyURI ] ;
fhir:value [ fhir:v "123456" ]
  ] ) ; # 
  fhir:name ( [
fhir:use [ fhir:v "usual" ] ;
fhir:text [ fhir:v "王大明" ]
  ] ) ; # 
  fhir:gender [ fhir:v "male"] ; # 
  fhir:birthDate [ fhir:v "2001-01-01"^^xsd:date] . # 

<https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min> a fhir:Organization ;
  fhir:id [ fhir:v "org-hosp-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:use [ fhir:v "official" ] ;
fhir:type [
      ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0203"^^xsd:anyURI ] ;
fhir:code [ fhir:v "PRN" ]       ] )     ] ;
fhir:system [ fhir:v "https://nhicore.nhi.gov.tw/ngs/CodeSystem/organization-identifier-tw"^^xsd:anyURI ] ;
fhir:value [ fhir:v "1145010010" ]
  ] ) ; # 
  fhir:type ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/organization-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "prov" ]     ] )
  ] ) ; # 
  fhir:name [ fhir:v "佛教慈濟醫療財團法人花蓮慈濟醫院"] . # 

<https://nhicore.nhi.gov.tw/ngs/Organization/org-gene-min> a fhir:Organization ;
  fhir:id [ fhir:v "org-gene-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-gene-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-gene-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:system [ fhir:v "https://dep.mohw.gov.tw"^^xsd:anyURI ] ;
fhir:value [ fhir:v "2023LDTB0002" ]
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/Specimen/spe-lung-min> a fhir:Specimen ;
  fhir:id [ fhir:v "spe-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Specimen-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Specimen-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "456-7567" ]
  ] ) ; # 
  fhir:type [
    ( fhir:coding [
a loinc:LP7641-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LP7641-6" ] ;
fhir:display [ fhir:v "Tiss" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:receivedTime [ fhir:v "2024-07-20T09:00:00.000Z"^^xsd:dateTime] . # 

<https://nhicore.nhi.gov.tw/ngs/Device/dev-min> a fhir:Device ;
  fhir:id [ fhir:v "dev-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Device-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Device-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:deviceName ( [
fhir:name [ fhir:v "illumina" ] ;
fhir:type [ fhir:v "user-friendly-name" ]
  ] ) ; # 
  fhir:modelNumber [ fhir:v "HiSeq 4000 System"] . # 

<https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-lung-min> a fhir:DocumentReference ;
  fhir:id [ fhir:v "doc-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DocumentReference-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DocumentReference-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4;#xD;#xA;        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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:status [ fhir:v "current"] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:content ( [
fhir:attachment [
fhir:contentType [ fhir:v "application/pdf" ] ;
fhir:url [ fhir:v "file://GenReport01.pdf"^^xsd:anyURI ] ;
fhir:title [ fhir:v "Lung adenocarcinoma 基因檢測" ]     ]
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/Observation/obs-lung-min> a fhir:Observation ;
  fhir:id [ fhir:v "obs-lung-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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=\"Observation_obs-lung-min\"> </a><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-twngs.html\">基因資訊-Observation TWNGS</a></p></div><p><b>狀態</b>：final</p><p><b>類型</b>：Laboratory<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/CodeSystem/observation-category\">Observation Category Codes</a>#laboratory)</span></p><p><b>項目</b>：Genetic variant assessment<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>病人</b>：<a href=\"Patient-pat-min.html\">Patient/pat-min</a></p><p><b>基因檢測機構</b>：<a href=\"Organization-org-gene-min.html\">Organization 2023LDTB0002</a></p><p><b>基因臨床判讀結果</b>：Positive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation/\">ObservationInterpretationCodes </a>#POS)</span></p><p><b>基因檢測方法</b>：Sequencing<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC Answer List LL4048-6 </a>#LA26398-0)</span></p><p><b>基因檢測檢體類型</b>：<a href=\"Specimen-spe-lung-min.html\">Specimen/spe-lung-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>基因定序儀型號</b>：<a href=\"Device-dev-min.html\">Device/dev-min</a></p><p><b>基因檢測日期</b>：2024-07-17</p><blockquote><p>基因檢測項目：FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC</a>#38412-3)</span></p><p>基因檢測列表：EGFR、FGFR2、TP53、U2AF1、BCORL1、CIC、CREBBP、EPHB4、FLT1 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://www.genenames.org/\">HGNC Gene ID</a>)</span></p><span/><p><b>DNA 變異列表 (c.HGVS)</b></p><ul><li>NM_021946.4:c.4171G&gt;A (BCORL1) — Substitution</li><li>NM_015125.4:c.496C&gt;T (CIC) — Substitution</li><li>NM_004380.2:c.833A&gt;C (CREBBP) — Substitution</li><li>NM_004444.4:c.2578G&gt;C (EPHB4) — Substitution</li></ul></blockquote></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "101202445968" ]
  ] ) ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
a loinc:69548-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69548-6" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:effective [
a fhir:dateTime ;
fhir:v "2024-07-17"^^xsd:date
  ] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/org-gene-min" ]
  ] ) ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
a loinc:LA9633-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA9633-4" ] ;
fhir:display [ fhir:v "Present" ]     ] )
  ] ; # 
  fhir:interpretation ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"^^xsd:anyURI ] ;
fhir:code [ fhir:v "POS" ] ;
fhir:display [ fhir:v "Positive" ]     ] )
  ] ) ; # 
  fhir:method [
    ( fhir:coding [
a loinc:LA26398-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26398-0" ] ;
fhir:display [ fhir:v "Sequencing" ]     ] )
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "Specimen/spe-lung-min" ]
  ] ; # 
  fhir:device [
fhir:reference [ fhir:v "Device/dev-min" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "DocumentReference/doc-lung-min" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:81247-9 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81247-9" ] ;
fhir:display [ fhir:v "Master HL7 genetic variant reporting panel" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:38412-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "38412-3" ] ;
fhir:display [ fhir:v "FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:25657" ] ;
fhir:display [ fhir:v "BCORL1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:3689" ] ;
fhir:display [ fhir:v "FGFR2" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:12453" ] ;
fhir:display [ fhir:v "U2AF1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:3236" ] ;
fhir:display [ fhir:v "EGFR" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:11998" ] ;
fhir:display [ fhir:v "TP53" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:3395" ] ;
fhir:display [ fhir:v "EPHB4" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:3763" ] ;
fhir:display [ fhir:v "FLT1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:2348" ] ;
fhir:display [ fhir:v "CREBBP" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:14214" ] ;
fhir:display [ fhir:v "CIC" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_021946.4:c.4171G>A" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6690-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6690-7" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_015125.4:c.496C>T" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6690-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6690-7" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_004380.2:c.833A>C" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6690-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6690-7" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_004444.4:c.2578G>C" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6690-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6690-7" ]       ] )     ] )
  ] ) . # 

<https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min> a fhir:ServiceRequest ;
  fhir:id [ fhir:v "serReq-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/ServiceRequest-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/ServiceRequest-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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=\"ServiceRequest_serReq-min\"> </a><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-ServiceRequest-twngs.html\">基因定序檢測申請項目-ServiceRequest TWNGS</a></p></div><p><b>狀態</b>：Active</p><p><b>目的</b>：Plan</p><p><b>醫令代碼</b>：實體腫瘤次世代基因定序－BRCA1/2基因檢測<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\">臺灣健保署醫療服務給付項目</a>#30301B)</span></p><p><b>病人</b>：<a href=\"Patient-pat-min.html\">Patient/pat-min</a> \"王大明\"</p></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:intent [ fhir:v "plan"] ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw"^^xsd:anyURI ] ;
fhir:code [ fhir:v "30301B" ] ;
fhir:display [ fhir:v "實體腫瘤次世代基因定序－BRCA1/2基因檢測" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] . #