臺灣健保癌症用藥事前審查實作指引
1.0.1 - release

This page is part of the 臺灣癌症用藥事前審查實作指引(TWPAS IG) (v1.0.1: Release) 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

: 基因資訊 - TTL Representation

Raw ttl | Download


@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://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 -------------------------------------------------------------------

 a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "obs-diagnostic-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://twcore.mohw.gov.tw/ig/pas/StructureDefinition/Observation-diagnostic-twpas"^^xsd:anyURI ;
fhir:link <https://twcore.mohw.gov.tw/ig/pas/StructureDefinition/Observation-diagnostic-twpas>     ] )
  ] ; # 
  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-diagnostic-twpas.html\">基因資訊-Observation Diagnostic TWPAS</a></p></div><p><b>狀態</b>：final</p><p><b>類型</b>：基因資訊<span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-nhi-supporting-info-type.html/\">NHI-補充資訊類別值集</a>#geneInfo)</span></p><p><b>code</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>基因檢測日期</b>：2024-05-07</p><blockquote><p><b>基因檢測代碼</b>：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-基因檢測代碼值集</a>#21636-6）</span><br/><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></blockquote><p><b>基因檢測機構</b>：<a href=\"Organization-org-gene-example.html\">Organization 2023LDTB0002</a></p><p><b>基因檢測分析結果</b>：Absent <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC Answer List LL1971-2 </a>#LA9634-2)</span></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>：PCR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://loinc.org/\">LOINC Answer List LL4048-6 </a>#LA26418-6)</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></div>"
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "https://twcore.mohw.gov.tw/ig/pas/CodeSystem/nhi-supporting-info-type"^^xsd:anyURI ] ;
fhir:code [ fhir:v "geneInfo" ]     ] )
  ] ) ; # 
  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 [ fhir:v "2024-05-07"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/org-gene-example" ]
  ] ) ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
a loinc:LA9634-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA9634-2" ] ;
fhir:display [ fhir:v "Absent" ]     ] )
  ] ; # 
  fhir:interpretation ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"^^xsd:anyURI ] ;
fhir:code [ fhir:v "POS" ]     ] )
  ] ) ; # 
  fhir:method [
    ( fhir:coding [
a loinc:LA26418-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26418-6" ]     ] )
  ] ; # 
  fhir:specimen [
fhir:reference [ fhir:v "Specimen/spe-min" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:21636-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "21636-6" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ] ;
    ( fhir:interpretation [
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ] )
  ] ) . #