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:Observation ;
fhir:nodeRole fhir:treeRoot ;
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\"><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" ]
] ) . #
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