臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build
臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
@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 "bundle-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Bundle-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Bundle-twngs> ] ) ] ; # fhir:identifier [ fhir:system [ fhir:v "http://example.org/identifier/ngs-case-number"^^xsd:anyURI ; fhir:l <http://example.org/identifier/ngs-case-number> ] ; fhir:value [ fhir:v "101202401021" ] ] ; # fhir:type [ fhir:v "document"] ; # fhir:timestamp [ fhir:v "2024-06-13T10:00:00+08:00"^^xsd:dateTime] ; # fhir:entry ( [ fhir:fullUrl [ fhir:v "http://example.org/Composition/composition-min"^^xsd:anyURI ; fhir:l <http://example.org/Composition/composition-min> ] ; ( fhir:resource <http://example.org/Composition/composition-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/DiagnosticReport/diag-min"^^xsd:anyURI ; fhir:l <http://example.org/DiagnosticReport/diag-min> ] ; ( fhir:resource <http://example.org/DiagnosticReport/diag-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Condition/con-min"^^xsd:anyURI ; fhir:l <http://example.org/Condition/con-min> ] ; ( fhir:resource <http://example.org/Condition/con-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Patient/pat-min"^^xsd:anyURI ; fhir:l <http://example.org/Patient/pat-min> ] ; ( fhir:resource <http://example.org/Patient/pat-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Organization/org-hosp-min"^^xsd:anyURI ; fhir:l <http://example.org/Organization/org-hosp-min> ] ; ( fhir:resource <http://example.org/Organization/org-hosp-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Organization/org-gene-min"^^xsd:anyURI ; fhir:l <http://example.org/Organization/org-gene-min> ] ; ( fhir:resource <http://example.org/Organization/org-gene-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Specimen/spe-bld-min"^^xsd:anyURI ; fhir:l <http://example.org/Specimen/spe-bld-min> ] ; ( fhir:resource <http://example.org/Specimen/spe-bld-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Device/dev-min"^^xsd:anyURI ; fhir:l <http://example.org/Device/dev-min> ] ; ( fhir:resource <http://example.org/Device/dev-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/DocumentReference/doc-gene-min"^^xsd:anyURI ; fhir:l <http://example.org/DocumentReference/doc-gene-min> ] ; ( fhir:resource <http://example.org/DocumentReference/doc-gene-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-geneinfo-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-geneinfo-min> ] ; ( fhir:resource <http://example.org/Observation/obs-geneinfo-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-variant-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-variant-min> ] ; ( fhir:resource <http://example.org/Observation/obs-variant-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-fusion-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-fusion-min> ] ; ( fhir:resource <http://example.org/Observation/obs-fusion-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-cnv-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-cnv-min> ] ; ( fhir:resource <http://example.org/Observation/obs-cnv-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-biomarker-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-biomarker-min> ] ; ( fhir:resource <http://example.org/Observation/obs-biomarker-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/Observation/obs-othvar-min"^^xsd:anyURI ; fhir:l <http://example.org/Observation/obs-othvar-min> ] ; ( fhir:resource <http://example.org/Observation/obs-othvar-min> ) ] [ fhir:fullUrl [ fhir:v "http://example.org/ServiceRequest/serReq-min"^^xsd:anyURI ; fhir:l <http://example.org/ServiceRequest/serReq-min> ] ; ( fhir:resource <http://example.org/ServiceRequest/serReq-min> ) ] ) . # <http://example.org/Composition/composition-min> a fhir:Composition ; fhir:id [ fhir:v "composition-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Composition-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Composition-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Composition_composition-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Composition composition-min</b></p><a name=\"composition-min\"> </a><a name=\"hccomposition-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-Composition-twngs.html\">基因定序檢測證明文件-Composition TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>type</b>: <span title=\"Codes:{http://example.org/CodeSystem/nhi-apply-type-cs 1}\">送核</span></p><p><b>category</b>: <span title=\"Codes:{http://example.org/CodeSystem/nhi-case-classification-cs 01}\">西醫一般案件</span></p><p><b>date</b>: 2024-06-13</p><p><b>author</b>: <a href=\"Organization-org-hosp-min.html\">Organization: identifier = Provider number (use: official, ); type = Healthcare Provider</a></p><p><b>title</b>: 次世代基因定序檢測證明文件</p></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:type [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/nhi-apply-type-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/nhi-apply-type-cs> ] ; fhir:code [ fhir:v "1" ] ] ) ] ; # fhir:category ( [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/nhi-case-classification-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/nhi-case-classification-cs> ] ; fhir:code [ fhir:v "01" ] ] ) ] ) ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:date [ fhir:v "2024-06-13"^^xsd:date] ; # fhir:author ( [ fhir:l fhir:Organization/org-hosp-min ; fhir:reference [ fhir:v "Organization/org-hosp-min" ] ] ) ; # fhir:title [ fhir:v "次世代基因定序檢測證明文件"] ; # fhir:section ( [ fhir:title [ fhir:v "基因定序檢測相關資料" ] ; ( fhir:entry [ fhir:l fhir:DiagnosticReport/diag-min ; fhir:reference [ fhir:v "DiagnosticReport/diag-min" ] ] [ fhir:l fhir:Condition/con-min ; fhir:reference [ fhir:v "Condition/con-min" ] ] [ fhir:l fhir:Organization/org-gene-min ; fhir:reference [ fhir:v "Organization/org-gene-min" ] ] [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] [ fhir:l fhir:Observation/obs-geneinfo-min ; fhir:reference [ fhir:v "Observation/obs-geneinfo-min" ] ] [ fhir:l fhir:Observation/obs-variant-min ; fhir:reference [ fhir:v "Observation/obs-variant-min" ] ] [ fhir:l fhir:Observation/obs-fusion-min ; fhir:reference [ fhir:v "Observation/obs-fusion-min" ] ] [ fhir:l fhir:Observation/obs-cnv-min ; fhir:reference [ fhir:v "Observation/obs-cnv-min" ] ] [ fhir:l fhir:Observation/obs-biomarker-min ; fhir:reference [ fhir:v "Observation/obs-biomarker-min" ] ] [ fhir:l fhir:Observation/obs-othvar-min ; fhir:reference [ fhir:v "Observation/obs-othvar-min" ] ] [ fhir:l fhir:ServiceRequest/serReq-min ; fhir:reference [ fhir:v "ServiceRequest/serReq-min" ] ] ) ] ) . # <http://example.org/DiagnosticReport/diag-min> a fhir:DiagnosticReport ; fhir:id [ fhir:v "diag-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/DiagnosticReport-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/DiagnosticReport-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_diag-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport diag-min</b></p><a name=\"diag-min\"> </a><a name=\"hcdiag-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-DiagnosticReport-twngs.html\">基因定序檢測報告-DiagnosticReport TWNGS</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">XX 癌症基因檢測</span> </h2><table class=\"grid\"><tr><td>Subject</td><td>王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</td></tr><tr><td>When For</td><td>2024-05-07</td></tr><tr><td>Performer</td><td> <a href=\"Organization-org-gene-min.html\">Organization XX檢驗實驗室</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-obs-geneinfo-min.html\"><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></a></td><td/><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-variant-min.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td/><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-fusion-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs fusion}\">Fusion</span></a></td><td>EML4::ALK</td><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-cnv-min.html\"><span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></a></td><td>8 copy number</td><td>Final, <span title=\"Codes:{http://example.org/CodeSystem/cnv-interpretation-cs amplification}\">Amplification</span></td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-biomarker-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs biomarker}\">Biomarker</span></a></td><td/><td>Final</td><td><blockquote><div><p>HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss</p>\n</div></blockquote></td><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-othvar-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs othVar}\">Other Types of Variant</span></a></td><td>complex rearrangement</td><td>Final</td><td/><td>2024-01-01</td></tr></table></div>"^^rdf:XMLLiteral ] ] ; # fhir:extension ( [ fhir:url [ fhir:v "http://example.org/StructureDefinition/extension-DiagnosticReport-condition"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/extension-DiagnosticReport-condition> ] ; fhir:value [ a fhir:Reference ; fhir:l fhir:Condition/con-min ; fhir:reference [ fhir:v "Condition/con-min" ] ] ] ) ; # fhir:basedOn ( [ fhir:l fhir:ServiceRequest/serReq-min ; 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:l <http://loinc.org> ] ; fhir:code [ fhir:v "51969-4" ] ; fhir:display [ fhir:v "Genetic analysis report" ] ] ) ; fhir:text [ fhir:v "XX 癌症基因檢測" ] ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-05-07"^^xsd:date ] ; # fhir:performer ( [ fhir:l fhir:Organization/org-gene-min ; fhir:reference [ fhir:v "Organization/org-gene-min" ] ] ) ; # fhir:result ( [ fhir:l fhir:Observation/obs-geneinfo-min ; fhir:reference [ fhir:v "Observation/obs-geneinfo-min" ] ] [ fhir:l fhir:Observation/obs-variant-min ; fhir:reference [ fhir:v "Observation/obs-variant-min" ] ] [ fhir:l fhir:Observation/obs-fusion-min ; fhir:reference [ fhir:v "Observation/obs-fusion-min" ] ] [ fhir:l fhir:Observation/obs-cnv-min ; fhir:reference [ fhir:v "Observation/obs-cnv-min" ] ] [ fhir:l fhir:Observation/obs-biomarker-min ; fhir:reference [ fhir:v "Observation/obs-biomarker-min" ] ] [ fhir:l fhir:Observation/obs-othvar-min ; fhir:reference [ fhir:v "Observation/obs-othvar-min" ] ] ) . # <http://example.org/Condition/con-min> a fhir:Condition ; fhir:id [ fhir:v "con-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Condition-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Condition-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Condition_con-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Condition con-min</b></p><a name=\"con-min\"> </a><a name=\"hccon-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-Condition-twngs.html\">基因定序檢測報告之疾病資訊-Condition TWNGS</a></p></div><p><b>clinicalStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}\">Active</span></p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}\">Encounter Diagnosis</span></p><p><b>code</b>: <span title=\"Codes:{https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw I50.812}\">慢性右心臟衰竭</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>recordedDate</b>: 2024-01-01</p><p><b>note</b>: </p><blockquote><div><p>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>\n</div></blockquote></div>"^^rdf:XMLLiteral ] ] ; # fhir:clinicalStatus [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/condition-clinical"^^xsd:anyURI ; fhir:l <http://terminology.hl7.org/CodeSystem/condition-clinical> ] ; fhir:code [ fhir:v "active" ] ] ) ] ; # fhir:category ( [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/condition-category"^^xsd:anyURI ; fhir:l <http://terminology.hl7.org/CodeSystem/condition-category> ] ; 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:l <https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw> ] ; fhir:code [ fhir:v "I50.812" ] ; fhir:display [ fhir:v "慢性右心臟衰竭" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:recordedDate [ fhir:v "2024-01-01"^^xsd:date] ; # fhir:note ( [ fhir:text [ fhir:v "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。" ] ] ) . # <http://example.org/Patient/pat-min> a fhir:Patient ; fhir:id [ fhir:v "pat-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Patient-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Patient-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_pat-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient pat-min</b></p><a name=\"pat-min\"> </a><a name=\"hcpat-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-Patient-twngs.html\">病人資訊-Patient TWNGS</a></p></div><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Other Ids (see the one above)\">Other Ids:</td><td colspan=\"3\">National Person Identifier where the xxx is the ISO table 3166 3-character (alphabetic) country code/A123456789 (use: official, )</td></tr></table></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:l <http://terminology.hl7.org/CodeSystem/v2-0203> ] ; fhir:code [ fhir:v "NNxxx" ] ] ) ] ; fhir:system [ fhir:v "http://www.moi.gov.tw"^^xsd:anyURI ; fhir:l <http://www.moi.gov.tw> ] ; 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:l <http://terminology.hl7.org/CodeSystem/v2-0203> ] ; fhir:code [ fhir:v "MR" ] ] ) ] ; fhir:system [ fhir:v "https://tpech.gov.taipei"^^xsd:anyURI ; fhir:l <https://tpech.gov.taipei> ] ; 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] . # <http://example.org/Organization/org-hosp-min> a fhir:Organization ; fhir:id [ fhir:v "org-hosp-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Organization-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Organization-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_org-hosp-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization org-hosp-min</b></p><a name=\"org-hosp-min\"> </a><a name=\"hcorg-hosp-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-Organization-twngs.html\">醫事機構-Organization TWNGS</a></p></div><p><b>identifier</b>: Provider number/1145010010 (use: official, )</p><p><b>type</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/organization-type prov}\">Healthcare Provider</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:l <http://terminology.hl7.org/CodeSystem/v2-0203> ] ; fhir:code [ fhir:v "PRN" ] ] ) ] ; fhir:system [ fhir:v "http://example.org/CodeSystem/organization-identifier-tw"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/organization-identifier-tw> ] ; fhir:value [ fhir:v "1145010010" ] ] ) ; # fhir:type ( [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/organization-type"^^xsd:anyURI ; fhir:l <http://terminology.hl7.org/CodeSystem/organization-type> ] ; fhir:code [ fhir:v "prov" ] ] ) ] ) . # <http://example.org/Organization/org-gene-min> a fhir:Organization ; fhir:id [ fhir:v "org-gene-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Organization-gene-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Organization-gene-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_org-gene-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization org-gene-min</b></p><a name=\"org-gene-min\"> </a><a name=\"hcorg-gene-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-Organization-gene-twngs.html\">基因檢測機構-Organization Gene TWNGS</a></p></div><p><b>identifier</b>: <code>https://dep.mohw.gov.tw</code>/2023LDTB0002</p><p><b>name</b>: XX檢驗實驗室</p></div>"^^rdf:XMLLiteral ] ] ; # fhir:identifier ( [ fhir:system [ fhir:v "https://dep.mohw.gov.tw"^^xsd:anyURI ; fhir:l <https://dep.mohw.gov.tw> ] ; fhir:value [ fhir:v "2023LDTB0002" ] ] ) ; # fhir:name [ fhir:v "XX檢驗實驗室"] . # <http://example.org/Specimen/spe-bld-min> a fhir:Specimen ; fhir:id [ fhir:v "spe-bld-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Specimen-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Specimen-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_spe-bld-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen spe-bld-min</b></p><a name=\"spe-bld-min\"> </a><a name=\"hcspe-bld-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-Specimen-twngs.html\">基因檢測檢體-Specimen TWNGS</a></p></div><p><b>identifier</b>: 123-4567</p><p><b>type</b>: <span title=\"Codes:{http://loinc.org LP7057-5}\">Bld</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td><td><b>Quantity</b></td><td><b>BodySite</b></td></tr><tr><td style=\"display: none\">*</td><td>2025-06-07</td><td>40 %</td><td><span title=\"Codes:\">周邊全血</span></td></tr></table></div>"^^rdf:XMLLiteral ] ] ; # fhir:identifier ( [ fhir:value [ fhir:v "123-4567" ] ] ) ; # fhir:type [ ( fhir:coding [ a loinc:LP7057-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "LP7057-5" ] ; fhir:display [ fhir:v "Bld" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:collection [ fhir:collected [ a fhir:DateTime ; fhir:v "2025-06-07"^^xsd:date ] ; fhir:quantity [ fhir:value [ fhir:v "40"^^xsd:decimal ] ; fhir:unit [ fhir:v "%" ] ] ; fhir:bodySite [ fhir:text [ fhir:v "周邊全血" ] ] ] . # <http://example.org/Device/dev-min> a fhir:Device ; fhir:id [ fhir:v "dev-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Device-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Device-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Device_dev-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Device dev-min</b></p><a name=\"dev-min\"> </a><a name=\"hcdev-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-Device-twngs.html\">基因定序檢測裝置-Device TWNGS</a></p></div><h3>DeviceNames</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Name</b></td><td><b>Type</b></td></tr><tr><td style=\"display: none\">*</td><td>illumina</td><td>User Friendly name</td></tr></table><p><b>modelNumber</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"] . # <http://example.org/DocumentReference/doc-gene-min> a fhir:DocumentReference ; fhir:id [ fhir:v "doc-gene-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/DocumentReference-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/DocumentReference-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DocumentReference_doc-gene-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DocumentReference doc-gene-min</b></p><a name=\"doc-gene-min\"> </a><a name=\"hcdoc-gene-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-DocumentReference-twngs.html\">基因報告-DocumentReference TWNGS</a></p></div><p><b>status</b>: Current</p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><blockquote><p><b>content</b></p><h3>Attachments</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ContentType</b></td><td><b>Url</b></td><td><b>Title</b></td></tr><tr><td style=\"display: none\">*</td><td>application/pdf</td><td>file://GenReport01.pdf</td><td>BRCA 基因檢測</td></tr></table></blockquote></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "current"] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; 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:l fhir:file://GenReport01.pdf ] ; fhir:title [ fhir:v "BRCA 基因檢測" ] ] ] ) . # <http://example.org/Observation/obs-geneinfo-min> a fhir:Observation ; fhir:id [ fhir:v "obs-geneinfo-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-geneInfo-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-geneInfo-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-geneinfo-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-geneinfo-min</b></p><a name=\"obs-geneinfo-min\"> </a><a name=\"hcobs-geneinfo-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-geneInfo-twngs.html\">基因資訊-Observation GeneInfo TWNGS</a></p></div><p><b>identifier</b>: <code>http://example.org/identifier/case-number</code>/123456</p><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</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/gene-test-info-cs testGeneList}\">完整基因清單</span></p><p><b>value</b>: HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs testTargetGeneNumber}\">檢測目標基因個數</span></p><p><b>value</b>: 15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs ngsLibraryPrepKit}\">建庫試劑組廠牌</span></p><p><b>value</b>: Ion Xpress™ Plus Fragment Library Kit</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestTotalReads}\">定序總讀數</span></p><p><b>value</b>: 2654265</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestMeanDepth}\">平均測序深度</span></p><p><b>value</b>: 456 x</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs refSeqAssemblyVersion}\">人類參考基因組版本</span></p><p><b>value</b>: GRCh38</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs percentMappedReads}\">對準成功率</span></p><p><b>value</b>: 96.4 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs tumorGeneVarAssessment}\">腫瘤基因檢測數據判讀</span></p><p><b>value</b>: <span title=\"Codes:{http://example.org/CodeSystem/tumor-gene-test-assessment-cs present}\">present</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs clinicalInterpretation}\">基因臨床判讀結果</span></p><p><b>value</b>: 文字描述臨床判讀結果</p></blockquote></div>"^^rdf:XMLLiteral ] ] ; # fhir:identifier ( [ fhir:system [ fhir:v "http://example.org/identifier/case-number"^^xsd:anyURI ; fhir:l <http://example.org/identifier/case-number> ] ; fhir:value [ fhir:v "123456" ] ] ) ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ a loinc:51969-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "51969-4" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "testGeneList" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "testTargetGeneNumber" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "15"^^xsd:decimal ] ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "ngsLibraryPrepKit" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "Ion Xpress™ Plus Fragment Library Kit" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "geneTestTotalReads" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "2654265"^^xsd:decimal ] ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "geneTestMeanDepth" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "456"^^xsd:decimal ] ; fhir:unit [ fhir:v "x" ] ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "refSeqAssemblyVersion" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "GRCh38" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "percentMappedReads" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v 96.4 ] ; fhir:unit [ fhir:v "%" ] ; fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ; fhir:l <http://unitsofmeasure.org> ] ; fhir:code [ fhir:v "%" ] ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "tumorGeneVarAssessment" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/tumor-gene-test-assessment-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/tumor-gene-test-assessment-cs> ] ; fhir:code [ fhir:v "present" ] ] ) ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/gene-test-info-cs> ] ; fhir:code [ fhir:v "clinicalInterpretation" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "文字描述臨床判讀結果" ] ] ) . # <http://example.org/Observation/obs-variant-min> a fhir:Observation ; fhir:id [ fhir:v "obs-variant-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-variant-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-variant-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-variant-min\"> </a><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 (use: official, ))</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>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ a loinc:69548-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "69548-6" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-variant-cs> ] ; fhir:code [ fhir:v "transcriptDB" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "RefSeq" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-variant-cs> ] ; fhir:code [ fhir:v "transcriptDBVersion" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "115" ] ] [ fhir:code [ ( fhir:coding [ a loinc:51958-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "51958-7" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "NM_000038.6" ] ] [ fhir:code [ ( fhir:coding [ a loinc:48004-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48004-6" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "c.4393_4394del" ] ] [ fhir:code [ ( fhir:coding [ a loinc:48018-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48018-6" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "APC" ] ] [ fhir:code [ ( fhir:coding [ a loinc:48005-3 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48005-3" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "p.Ser1465fs" ] ] [ fhir:code [ ( fhir:coding [ a loinc:81258-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "81258-6" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v 48.9 ] ; fhir:unit [ fhir:v "%" ] ; fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ; fhir:l <http://unitsofmeasure.org> ] ; fhir:code [ fhir:v "%" ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:48019-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48019-4" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA6692-3 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "LA6692-3" ] ] ) ] ] [ fhir:code [ ( fhir:coding [ a loinc:48013-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48013-7" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "NC_000005.10" ] ] [ fhir:code [ ( fhir:coding [ a loinc:81290-9 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "81290-9" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "g.112839979_112839980del" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-variant-cs> ] ; fhir:code [ fhir:v "proteinRefId" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "NP_000029.2" ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-variant-cs> ] ; fhir:code [ fhir:v "aminoAcidChangeType" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA6694-9 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "LA6694-9" ] ] ) ] ] [ fhir:code [ ( fhir:coding [ a loinc:82121-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "82121-5" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "440"^^xsd:decimal ] ] ] [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-variant-cs> ] ; fhir:code [ fhir:v "totalReadDepth" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "900"^^xsd:decimal ] ] ] ) . # <http://example.org/Observation/obs-fusion-min> a fhir:Observation ; fhir:id [ fhir:v "obs-fusion-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-fusion-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-fusion-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-fusion-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-fusion-min</b></p><a name=\"obs-fusion-min\"> </a><a name=\"hcobs-fusion-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-fusion-twngs.html\">基因融合資訊-Observation Fusion TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs fusion}\">Fusion</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: EML4::ALK</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><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></td><td>16.7 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></td></tr></table></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs> ] ; fhir:code [ fhir:v "fusion" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:value [ a fhir:String ; fhir:v "EML4::ALK" ] ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ a loinc:81258-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "81258-6" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v 16.7 ] ; fhir:unit [ fhir:v "%" ] ; fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ; fhir:l <http://unitsofmeasure.org> ] ; fhir:code [ fhir:v "%" ] ] ] ) . # <http://example.org/Observation/obs-cnv-min> a fhir:Observation ; fhir:id [ fhir:v "obs-cnv-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-cnv-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-cnv-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-cnv-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-cnv-min</b></p><a name=\"obs-cnv-min\"> </a><a name=\"hcobs-cnv-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-cnv-twngs.html\">拷貝數變異資訊-Observation CNV TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: 8 copy number</p><p><b>interpretation</b>: <span title=\"Codes:{http://example.org/CodeSystem/cnv-interpretation-cs amplification}\">Amplification</span></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><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td>HER2</td></tr></table></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ a loinc:82155-3 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "82155-3" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "8"^^xsd:decimal ] ; fhir:unit [ fhir:v "copy number" ] ] ; # fhir:interpretation ( [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/cnv-interpretation-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/cnv-interpretation-cs> ] ; fhir:code [ fhir:v "amplification" ] ] ) ] ) ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ a loinc:48018-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48018-6" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "HER2" ] ] ) . # <http://example.org/Observation/obs-biomarker-min> a fhir:Observation ; fhir:id [ fhir:v "obs-biomarker-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-biomarker-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-biomarker-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-biomarker-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-biomarker-min</b></p><a name=\"obs-biomarker-min\"> </a><a name=\"hcobs-biomarker-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-biomarker-twngs.html\">基因生物標記資訊-Observation Biomarker TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs biomarker}\">Biomarker</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>note</b>: </p><blockquote><div><p>HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss</p>\n</div></blockquote><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-observation-type-cs msiScore}\">MSI Score</span></p><p><b>value</b>: 30 %<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 81695-9}\">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26203-2}\">MSI-H</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>value</b>: 10 Muts/Mb</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94077-5}\">Tumor mutation burden [Interpretation]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9194-7}\">Low</span></p></blockquote></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs> ] ; fhir:code [ fhir:v "biomarker" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:note ( [ fhir:text [ fhir:v "HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss" ] ] ) ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs> ] ; fhir:code [ fhir:v "msiScore" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "30"^^xsd:decimal ] ; fhir:unit [ fhir:v "%" ] ; fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ; fhir:l <http://unitsofmeasure.org> ] ; fhir:code [ fhir:v "%" ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:81695-9 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "81695-9" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA26203-2 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "LA26203-2" ] ] ) ; fhir:text [ fhir:v "MSI-H" ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:94076-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "94076-7" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "10"^^xsd:decimal ] ; fhir:unit [ fhir:v "Muts/Mb" ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:94077-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "94077-5" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA9194-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "LA9194-7" ] ] ) ; fhir:text [ fhir:v "Low" ] ] ] ) . # <http://example.org/Observation/obs-othvar-min> a fhir:Observation ; fhir:id [ fhir:v "obs-othvar-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/Observation-othvar-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/Observation-othvar-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-othvar-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-othvar-min</b></p><a name=\"obs-othvar-min\"> </a><a name=\"hcobs-othvar-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-othvar-twngs.html\">其他變異影響之基因-Observation Other Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs othVar}\">Other Types of Variant</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: complex rearrangement</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><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td>MYC</td></tr></table></div>"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:code [ ( fhir:coding [ fhir:system [ fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ; fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs> ] ; fhir:code [ fhir:v "othVar" ] ] ) ] ; # fhir:subject [ fhir:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] ; # fhir:effective [ a fhir:DateTime ; fhir:v "2024-01-01"^^xsd:date ] ; # fhir:value [ a fhir:String ; fhir:v "complex rearrangement" ] ; # fhir:specimen [ fhir:l fhir:Specimen/spe-bld-min ; fhir:reference [ fhir:v "Specimen/spe-bld-min" ] ] ; # fhir:device [ fhir:l fhir:Device/dev-min ; fhir:reference [ fhir:v "Device/dev-min" ] ] ; # fhir:derivedFrom ( [ fhir:l fhir:DocumentReference/doc-gene-min ; fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ] ] ) ; # fhir:component ( [ fhir:code [ ( fhir:coding [ a loinc:48018-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l <http://loinc.org> ] ; fhir:code [ fhir:v "48018-6" ] ] ) ] ; fhir:value [ a fhir:String ; fhir:v "MYC" ] ] ) . # <http://example.org/ServiceRequest/serReq-min> a fhir:ServiceRequest ; fhir:id [ fhir:v "serReq-min"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://example.org/StructureDefinition/ServiceRequest-twngs"^^xsd:anyURI ; fhir:l <http://example.org/StructureDefinition/ServiceRequest-twngs> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_serReq-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest serReq-min</b></p><a name=\"serReq-min\"> </a><a name=\"hcserReq-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-ServiceRequest-twngs.html\">基因定序檢測申請項目-ServiceRequest TWNGS</a></p></div><p><b>status</b>: Active</p><p><b>intent</b>: Plan</p><p><b>code</b>: <span title=\"Codes:{https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw 30301B}\">實體腫瘤次世代基因定序－BRCA1/2基因檢測</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></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:l <https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw> ] ; 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:l fhir:Patient/pat-min ; fhir:reference [ fhir:v "Patient/pat-min" ] ] . #
IG © 2026+ 衛生福利部中央健康保險署. Package tw.nhri.ngs#0.1.0 based on FHIR 4.0.1. Generated 2026-04-30
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