臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0

This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: BRCA 基因檢測資訊 - TTL Representation

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

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

 a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "obs-diagnostic-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"^^xsd:anyURI ;
fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-twngs.html\">基因資訊-Observation TWNGS</a></p></div><p><b>狀態</b>：final</p><p><b>類型</b>：Laboratory<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/CodeSystem/observation-category\">Observation Category Codes</a>#laboratory)</span></p><p><b>項目</b>：Genetic variant assessment<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>病人</b>：<a href=\"Patient-pat-min.html\">Patient/pat-min</a></p><p><b>基因檢測機構</b>：<a href=\"Organization-org-gene-min.html\">Organization 2023LDTB0002</a></p><p><b>基因臨床判讀結果</b>：Positive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation/\">ObservationInterpretationCodes </a>#POS)</span></p><p><b>基因檢測方法</b>：Sequencing<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://loinc.org/\">LOINC Answer List LL4048-6 </a>#LA26398-0)</span></p><p><b>基因檢測檢體類型</b>：<a href=\"Specimen-spe-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&gt;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&gt;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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "101202401021" ]
  ] ) ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
a loinc:69548-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69548-6" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:effective [
a fhir:dateTime ;
fhir:v "2024-01-01"^^xsd:date
  ] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/org-gene-min" ]
  ] ) ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
a loinc:LA9633-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA9633-4" ] ;
fhir:display [ fhir:v "Present" ]     ] )
  ] ; # 
  fhir:interpretation ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"^^xsd:anyURI ] ;
fhir:code [ fhir:v "POS" ] ;
fhir:display [ fhir:v "Positive" ]     ] )
  ] ) ; # 
  fhir:method [
    ( fhir:coding [
a loinc:LA26398-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26398-0" ] ;
fhir:display [ fhir:v "Sequencing" ]     ] )
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "Specimen/spe-min" ]
  ] ; # 
  fhir:device [
fhir:reference [ fhir:v "Device/dev-min" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:81247-9 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81247-9" ] ;
fhir:display [ fhir:v "Master HL7 genetic variant reporting panel" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:21636-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "21636-6" ] ;
fhir:display [ fhir:v "BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48004-6" ] ;
fhir:display [ fhir:v "DNA change (c.HGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NM_005228.4:c.2573T>G" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ] )
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:3236" ] ;
fhir:display [ fhir:v "EGFR" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "#HGNC:1100" ] ;
fhir:display [ fhir:v "BRCA1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81290-9 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81290-9" ] ;
fhir:display [ fhir:v "Genomic DNA change (gHGVS)" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NC_000007.13:g.55259515T>G" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81254-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81254-5" ] ;
fhir:display [ fhir:v "Genomic allele start-end" ]       ] )     ] ;
fhir:value [
a fhir:Range ;
fhir:low [
fhir:value [ fhir:v "96521657"^^xsd:decimal ]       ] ;
fhir:high [
fhir:value [ fhir:v "96521657"^^xsd:decimal ]       ]     ]
  ] ) . #