臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. See the Directory of published versions
@prefix fhir: <http://hl7.org/fhir/> . @prefix loinc: <http://loinc.org/rdf#> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/Bundle/bun-document-min> a fhir:Bundle ; fhir:nodeRole fhir:treeRoot ; fhir:Resource.id [ fhir:value "bun-document-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Bundle-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Bundle-twngs> ] ] ; fhir:Bundle.identifier [ fhir:Identifier.system [ fhir:value "https://www.nhi.gov.tw" ] ; fhir:Identifier.value [ fhir:value "101202401021" ] ] ; fhir:Bundle.type [ fhir:value "document"] ; fhir:Bundle.timestamp [ fhir:value "2024-06-13T13:50:58.000+08:00"^^xsd:dateTime] ; fhir:Bundle.entry [ fhir:index 0 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Composition/com-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Composition/com-min> ], [ fhir:index 1 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-min> ], [ fhir:index 2 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Condition/con-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Condition/con-min> ], [ fhir:index 3 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Patient/pat-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Patient/pat-min> ], [ fhir:index 4 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min> ], [ fhir:index 5 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Organization/org-gene-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Organization/org-gene-min> ], [ fhir:index 6 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Specimen/spe-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Specimen/spe-min> ], [ fhir:index 7 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Device/dev-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Device/dev-min> ], [ fhir:index 8 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-gene-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-gene-min> ], [ fhir:index 9 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/Observation/obs-diagnostic-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/Observation/obs-diagnostic-min> ], [ fhir:index 10 ; fhir:Bundle.entry.fullUrl [ fhir:value "https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min" ] ; fhir:Bundle.entry.resource <https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min> ] . <https://nhicore.nhi.gov.tw/ngs/Composition/com-min> a fhir:Composition ; fhir:Resource.id [ fhir:value "com-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Composition-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Composition-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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-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>：2024-06-13</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-min.html\">DiagnosticReport/dia-min</a></p><p><b>疾病資訊</b>：<a href=\"Condition-con-min.html\">Condition/con-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-min.html\">Specimen/spe-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-gene-min.html\">DocumentReference/doc-gene-min</a></p><p><b>基因資訊</b>：<a href=\"Observation-obs-diagnostic-min.html\">Observation/obs-diagnostic-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>" ] ; fhir:Composition.status [ fhir:value "final"] ; fhir:Composition.type [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "https://nhicore.nhi.gov.tw/ngs/CodeSystem/nhi-apply-type" ] ; fhir:Coding.code [ fhir:value "1" ] ; fhir:Coding.display [ fhir:value "送核" ] ] ] ; fhir:Composition.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "https://nhicore.nhi.gov.tw/ngs/CodeSystem/nhi-case-classification" ] ; fhir:Coding.code [ fhir:value "04" ] ; fhir:Coding.display [ fhir:value "西醫慢性病" ] ] ] ; fhir:Composition.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:Composition.date [ fhir:value "2024-06-13"^^xsd:date] ; fhir:Composition.author [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/org-hosp-min> ; fhir:Reference.reference [ fhir:value "Organization/org-hosp-min" ] ] ; fhir:Composition.title [ fhir:value "BRCA 基因檢測報告之證明文件"] ; fhir:Composition.section [ fhir:index 0 ; fhir:Composition.section.entry [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/DiagnosticReport/dia-min> ; fhir:Reference.reference [ fhir:value "DiagnosticReport/dia-min" ] ], [ fhir:index 1 ; fhir:link <http://hl7.org/fhir/Condition/con-min> ; fhir:Reference.reference [ fhir:value "Condition/con-min" ] ], [ fhir:index 2 ; fhir:link <http://hl7.org/fhir/Organization/org-gene-min> ; fhir:Reference.reference [ fhir:value "Organization/org-gene-min" ] ], [ fhir:index 3 ; fhir:link <http://hl7.org/fhir/Specimen/spe-min> ; fhir:Reference.reference [ fhir:value "Specimen/spe-min" ] ], [ fhir:index 4 ; fhir:link <http://hl7.org/fhir/Device/dev-min> ; fhir:Reference.reference [ fhir:value "Device/dev-min" ] ], [ fhir:index 5 ; fhir:link <http://hl7.org/fhir/DocumentReference/doc-gene-min> ; fhir:Reference.reference [ fhir:value "DocumentReference/doc-gene-min" ] ], [ fhir:index 6 ; fhir:link <http://hl7.org/fhir/Observation/obs-diagnostic-min> ; fhir:Reference.reference [ fhir:value "Observation/obs-diagnostic-min" ] ], [ fhir:index 7 ; fhir:link <http://hl7.org/fhir/ServiceRequest/serReq-min> ; fhir:Reference.reference [ fhir:value "ServiceRequest/serReq-min" ] ] ] . <http://hl7.org/fhir/Patient/pat-min> a fhir:Patient . <http://hl7.org/fhir/Organization/org-hosp-min> a fhir:Organization . <http://hl7.org/fhir/DiagnosticReport/dia-min> a fhir:DiagnosticReport . <http://hl7.org/fhir/Condition/con-min> a fhir:Condition . <http://hl7.org/fhir/Organization/org-gene-min> a fhir:Organization . <http://hl7.org/fhir/Specimen/spe-min> a fhir:Specimen . <http://hl7.org/fhir/Device/dev-min> a fhir:Device . <http://hl7.org/fhir/DocumentReference/doc-gene-min> a fhir:DocumentReference . <http://hl7.org/fhir/Observation/obs-diagnostic-min> a fhir:Observation . <http://hl7.org/fhir/ServiceRequest/serReq-min> a fhir:ServiceRequest . <https://nhicore.nhi.gov.tw/ngs/DiagnosticReport/dia-min> a fhir:DiagnosticReport ; fhir:Resource.id [ fhir:value "dia-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DiagnosticReport-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DiagnosticReport-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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-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-min.html\">Condition/con-min</a></p></blockquote><p><b>費用年月</b>：2024-05-07</p><p><b>基因資訊</b>：<a href=\"Observation-obs-diagnostic-min.html\">Observation/obs-diagnostic-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>" ] ; fhir:DomainResource.extension [ fhir:index 0 ; fhir:Extension.url [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/extension-DiagnosticReport-condition" ] ; fhir:Extension.valueReference [ fhir:link <http://hl7.org/fhir/Condition/con-min> ; fhir:Reference.reference [ fhir:value "Condition/con-min" ] ] ] ; fhir:DiagnosticReport.basedOn [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/ServiceRequest/serReq-min> ; fhir:Reference.reference [ fhir:value "ServiceRequest/serReq-min" ] ] ; fhir:DiagnosticReport.status [ fhir:value "final"] ; fhir:DiagnosticReport.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51969-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51969-4" ] ; fhir:Coding.display [ fhir:value "Genetic analysis report" ] ] ] ; fhir:DiagnosticReport.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:DiagnosticReport.effectiveDateTime [ fhir:value "2024-05-07"^^xsd:date] ; fhir:DiagnosticReport.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/org-gene-min> ; fhir:Reference.reference [ fhir:value "Organization/org-gene-min" ] ] ; fhir:DiagnosticReport.result [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/obs-diagnostic-min> ; fhir:Reference.reference [ fhir:value "Observation/obs-diagnostic-min" ] ] . <https://nhicore.nhi.gov.tw/ngs/Condition/con-min> a fhir:Condition ; fhir:Resource.id [ fhir:value "con-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Condition-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Condition-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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-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>：慢性右心臟衰竭 <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>#I50.812)</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>：2024-01-01</p><p><b>申請理由</b>：Adenocarcinoma, descending colon, cT3N2M1a, cStage IVA, KRAS G12V, with multiple liver metastases, status post FOLFIRI。附件附上病人診斷之相關資料，惠請委員核准Avastin之初申請，以利後續合併FOLFIRI之治療，謝謝。</p></div>" ] ; fhir:Condition.clinicalStatus [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/condition-clinical" ] ; fhir:Coding.code [ fhir:value "active" ] ] ] ; fhir:Condition.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/condition-category" ] ; fhir:Coding.code [ fhir:value "encounter-diagnosis" ] ] ] ; fhir:Condition.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw" ] ; fhir:Coding.code [ fhir:value "I50.812" ] ; fhir:Coding.display [ fhir:value "慢性右心臟衰竭" ] ] ] ; fhir:Condition.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:Condition.recordedDate [ fhir:value "2024-01-01"^^xsd:date] ; fhir:Condition.note [ fhir:index 0 ; fhir:Annotation.text [ fhir:value "Adenocarcinoma, descending colon, cT3N2M1a, cStage IVA, KRAS G12V, with multiple liver metastases, status post FOLFIRI。附件附上病人診斷之相關資料，惠請委員核准Avastin之初申請，以利後續合併FOLFIRI之治療，謝謝。" ] ] . <https://nhicore.nhi.gov.tw/ngs/Patient/pat-min> a fhir:Patient ; fhir:Resource.id [ fhir:value "pat-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Patient-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Patient-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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>" ] ; fhir:Patient.identifier [ fhir:index 0 ; fhir:Identifier.use [ fhir:value "official" ] ; fhir:Identifier.type [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0203" ] ; fhir:Coding.code [ fhir:value "NNxxx" ] ] ] ; fhir:Identifier.system [ fhir:value "http://www.moi.gov.tw" ] ; fhir:Identifier.value [ fhir:value "A123456789" ] ], [ fhir:index 1 ; fhir:Identifier.use [ fhir:value "official" ] ; fhir:Identifier.type [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0203" ] ; fhir:Coding.code [ fhir:value "MR" ] ] ] ; fhir:Identifier.system [ fhir:value "https://tpech.gov.taipei" ] ; fhir:Identifier.value [ fhir:value "123456" ] ] ; fhir:Patient.name [ fhir:index 0 ; fhir:HumanName.use [ fhir:value "usual" ] ; fhir:HumanName.text [ fhir:value "王大明" ] ] ; fhir:Patient.gender [ fhir:value "male"] ; fhir:Patient.birthDate [ fhir:value "2001-01-01"^^xsd:date] . <https://nhicore.nhi.gov.tw/ngs/Organization/org-hosp-min> a fhir:Organization ; fhir:Resource.id [ fhir:value "org-hosp-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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>" ] ; fhir:Organization.identifier [ fhir:index 0 ; fhir:Identifier.use [ fhir:value "official" ] ; fhir:Identifier.type [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0203" ] ; fhir:Coding.code [ fhir:value "PRN" ] ] ] ; fhir:Identifier.system [ fhir:value "https://nhicore.nhi.gov.tw/ngs/CodeSystem/organization-identifier-tw" ] ; fhir:Identifier.value [ fhir:value "1145010010" ] ] ; fhir:Organization.type [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/organization-type" ] ; fhir:Coding.code [ fhir:value "prov" ] ] ] ; fhir:Organization.name [ fhir:value "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:Resource.id [ fhir:value "org-gene-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-gene-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Organization-gene-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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>" ] ; fhir:Organization.identifier [ fhir:index 0 ; fhir:Identifier.system [ fhir:value "https://dep.mohw.gov.tw" ] ; fhir:Identifier.value [ fhir:value "2023LDTB0002" ] ] . <https://nhicore.nhi.gov.tw/ngs/Specimen/spe-min> a fhir:Specimen ; fhir:Resource.id [ fhir:value "spe-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Specimen-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Specimen-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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-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>：123-4567</p><p><b>檢體類型</b>：Blood<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>#LP7057-5)</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>：2024-05-06T09:00:00.000Z</p></div>" ] ; fhir:Specimen.identifier [ fhir:index 0 ; fhir:Identifier.value [ fhir:value "123-4567" ] ] ; fhir:Specimen.type [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LP7057-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LP7057-5" ] ; fhir:Coding.display [ fhir:value "Bld" ] ] ] ; fhir:Specimen.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:Specimen.receivedTime [ fhir:value "2024-05-06T09:00:00.000Z"^^xsd:dateTime] . <https://nhicore.nhi.gov.tw/ngs/Device/dev-min> a fhir:Device ; fhir:Resource.id [ fhir:value "dev-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Device-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Device-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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>" ] ; fhir:Device.deviceName [ fhir:index 0 ; fhir:Device.deviceName.name [ fhir:value "illumina" ] ; fhir:Device.deviceName.type [ fhir:value "user-friendly-name" ] ] ; fhir:Device.modelNumber [ fhir:value "HiSeq 4000 System"] . <https://nhicore.nhi.gov.tw/ngs/DocumentReference/doc-gene-min> a fhir:DocumentReference ; fhir:Resource.id [ fhir:value "doc-gene-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DocumentReference-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/DocumentReference-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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;#xA; border-radius: 5px; line-height: 60%\"><a name=\"DocumentReference_doc-gene-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>：BRCA 基因檢測</p></div>" ] ; fhir:DocumentReference.status [ fhir:value "current"] ; fhir:DocumentReference.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:DocumentReference.content [ fhir:index 0 ; fhir:DocumentReference.content.attachment [ fhir:Attachment.contentType [ fhir:value "application/pdf" ] ; fhir:Attachment.url [ fhir:value "file://GenReport01.pdf" ] ; fhir:Attachment.title [ fhir:value "BRCA 基因檢測" ] ] ] . <https://nhicore.nhi.gov.tw/ngs/Observation/obs-diagnostic-min> a fhir:Observation ; fhir:Resource.id [ fhir:value "obs-diagnostic-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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-diagnostic-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>流水號</b>：11450100101120250601220251212</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-min.html\">Specimen/spe-min</a></p><p><b>基因報告</b>：<a href=\"DocumentReference-doc-gene-min.html\">DocumentReference/doc-gene-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>：2024-01-01</p><blockquote><p>基因檢測項目：BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC</a>#21636-6)</span></p><p>基因檢測列表：EGFR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://www.genenames.org/\">HGNC Gene ID</a>#HGNC:3236)</span></p><p><b>基因檢測分析結果</b>：Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC Answer List LL1971-2 </a>#LA9633-4)</span></p><p><b>基因突變類型</b>：Deletion <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">（ <a href=\"http://loinc.org/\">LOINC-基因突變類型值集</a>#LA6692-3）</span></p><p>DNA變異 (c.HGVS)：NM_005228.4:c.2573T>G<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://varnomen.hgvs.org/\">HGVS Gene Code</a>)</span></p><p>基因組DNA變異 (gHGVS)：NC_000007.13:g.55259515T>G<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://varnomen.hgvs.org/\">HGVS Gene Code</a>)</span></p><p>基因變異的精確起始與終止位置：96521657-96521657</p></blockquote></div>" ] ; fhir:Observation.identifier [ fhir:index 0 ; fhir:Identifier.value [ fhir:value "11450100101120250601220251212" ] ] ; fhir:Observation.status [ fhir:value "final"] ; fhir:Observation.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ; fhir:Coding.code [ fhir:value "laboratory" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2024-01-01"^^xsd:date] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/org-gene-min> ; fhir:Reference.reference [ fhir:value "Organization/org-gene-min" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.interpretation [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation" ] ; fhir:Coding.code [ fhir:value "POS" ] ; fhir:Coding.display [ fhir:value "Positive" ] ] ] ; fhir:Observation.method [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA26398-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA26398-0" ] ; fhir:Coding.display [ fhir:value "Sequencing" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/spe-min> ; fhir:Reference.reference [ fhir:value "Specimen/spe-min" ] ] ; fhir:Observation.device [ fhir:link <http://hl7.org/fhir/Device/dev-min> ; fhir:Reference.reference [ fhir:value "Device/dev-min" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/DocumentReference/doc-gene-min> ; fhir:Reference.reference [ fhir:value "DocumentReference/doc-gene-min" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81247-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81247-9" ] ; fhir:Coding.display [ fhir:value "Master HL7 genetic variant reporting panel" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:21636-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "21636-6" ] ; fhir:Coding.display [ fhir:value "BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal" ] ] ] ; fhir:Observation.component.interpretation [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6692-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6692-3" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48004-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48004-6" ] ; fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NM_005228.4:c.2573T>G" ] ] ] ; fhir:Observation.component.interpretation [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6692-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6692-3" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48018-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48018-6" ] ; fhir:Coding.display [ fhir:value "Gene studied [ID]" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ; fhir:Coding.code [ fhir:value "HGNC:3236" ] ; fhir:Coding.display [ fhir:value "EGFR" ] ] ] ], [ fhir:index 3 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48018-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48018-6" ] ; fhir:Coding.display [ fhir:value "Gene studied [ID]" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ; fhir:Coding.code [ fhir:value "#HGNC:1100" ] ; fhir:Coding.display [ fhir:value "BRCA1" ] ] ] ], [ fhir:index 4 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81290-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81290-9" ] ; fhir:Coding.display [ fhir:value "Genomic DNA change (gHGVS)" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NC_000007.13:g.55259515T>G" ] ] ] ], [ fhir:index 5 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81254-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81254-5" ] ; fhir:Coding.display [ fhir:value "Genomic allele start-end" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "96521657"^^xsd:decimal ] ] ; fhir:Range.high [ fhir:Quantity.value [ fhir:value "96521657"^^xsd:decimal ] ] ] ] . <https://nhicore.nhi.gov.tw/ngs/ServiceRequest/serReq-min> a fhir:ServiceRequest ; fhir:Resource.id [ fhir:value "serReq-min"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/ServiceRequest-twngs" ; fhir:index 0 ; fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/ServiceRequest-twngs> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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>" ] ; fhir:ServiceRequest.status [ fhir:value "active"] ; fhir:ServiceRequest.intent [ fhir:value "plan"] ; fhir:ServiceRequest.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw" ] ; fhir:Coding.code [ fhir:value "30301B" ] ; fhir:Coding.display [ fhir:value "實體腫瘤次世代基因定序－BRCA1/2基因檢測" ] ] ] ; fhir:ServiceRequest.subject [ fhir:link <http://hl7.org/fhir/Patient/pat-min> ; fhir:Reference.reference [ fhir:value "Patient/pat-min" ] ] . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/Bundle/bun-document-min.ttl> a owl:Ontology ; owl:imports fhir:fhir.ttl ; owl:versionIRI <http://build.fhir.org/Bundle/bun-document-min.ttl> .
IG © 2024+ 衛生福利部中央健康保險署. Package tw.gov.mohw.nhi.ngs#1.0.1 based on FHIR 4.0.1. Generated 2026-10-14
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