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

: 基因檢測方式與品質資訊代碼系統 - TTL Representation

Active as of 2026-03-15

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@prefix fhir: <http://hl7.org/fhir/> .
@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:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "gene-test-info-cs"] ; # 
  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: CodeSystem gene-test-info-cs</b></p><a name=\"gene-test-info-cs\"> </a><a name=\"hcgene-test-info-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/gene-test-info-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">testGeneList<a name=\"gene-test-info-cs-testGeneList\"> </a></td><td>完整基因清單</td></tr><tr><td style=\"white-space:nowrap\">testTargetGeneNumber<a name=\"gene-test-info-cs-testTargetGeneNumber\"> </a></td><td>檢測目標基因個數</td></tr><tr><td style=\"white-space:nowrap\">ngsLibraryPrepKit<a name=\"gene-test-info-cs-ngsLibraryPrepKit\"> </a></td><td>建庫試劑組廠牌</td></tr><tr><td style=\"white-space:nowrap\">geneTestTotalReads<a name=\"gene-test-info-cs-geneTestTotalReads\"> </a></td><td>定序總讀數</td></tr><tr><td style=\"white-space:nowrap\">geneTestMeanDepth<a name=\"gene-test-info-cs-geneTestMeanDepth\"> </a></td><td>平均測序深度</td></tr><tr><td style=\"white-space:nowrap\">refSeqAssemblyVersion<a name=\"gene-test-info-cs-refSeqAssemblyVersion\"> </a></td><td>人類參考基因組版本</td></tr><tr><td style=\"white-space:nowrap\">percentMappedReads<a name=\"gene-test-info-cs-percentMappedReads\"> </a></td><td>對準成功率</td></tr><tr><td style=\"white-space:nowrap\">tumorGeneVarAssessment<a name=\"gene-test-info-cs-tumorGeneVarAssessment\"> </a></td><td>腫瘤基因檢測數據判讀</td></tr><tr><td style=\"white-space:nowrap\">clinicalInterpretation<a name=\"gene-test-info-cs-clinicalInterpretation\"> </a></td><td>基因臨床判讀結果</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "http://example.org/CodeSystem/gene-test-info-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/gene-test-info-cs>
  ] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "GeneTestInfoCS"] ; # 
  fhir:title [ fhir:v "基因檢測方式與品質資訊代碼系統"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2026-03-15"^^xsd:date] ; # 
  fhir:publisher [ fhir:v "衛生福利部中央健康保險署"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "衛生福利部中央健康保險署" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nhi.gov.tw/ch/mp-1.html" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "基因檢測方式與品質資訊代碼系統"] ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "9"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "testGeneList" ] ;
fhir:display [ fhir:v "完整基因清單" ]
  ] [
fhir:code [ fhir:v "testTargetGeneNumber" ] ;
fhir:display [ fhir:v "檢測目標基因個數" ]
  ] [
fhir:code [ fhir:v "ngsLibraryPrepKit" ] ;
fhir:display [ fhir:v "建庫試劑組廠牌" ]
  ] [
fhir:code [ fhir:v "geneTestTotalReads" ] ;
fhir:display [ fhir:v "定序總讀數" ]
  ] [
fhir:code [ fhir:v "geneTestMeanDepth" ] ;
fhir:display [ fhir:v "平均測序深度" ]
  ] [
fhir:code [ fhir:v "refSeqAssemblyVersion" ] ;
fhir:display [ fhir:v "人類參考基因組版本" ]
  ] [
fhir:code [ fhir:v "percentMappedReads" ] ;
fhir:display [ fhir:v "對準成功率" ]
  ] [
fhir:code [ fhir:v "tumorGeneVarAssessment" ] ;
fhir:display [ fhir:v "腫瘤基因檢測數據判讀" ]
  ] [
fhir:code [ fhir:v "clinicalInterpretation" ] ;
fhir:display [ fhir:v "基因臨床判讀結果" ]
  ] ) . #