臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build

臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. 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: <http://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 -------------------------------------------------------------------

<http://hl7.org/fhir/Observation/obs-diagnostic-min> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "obs-diagnostic-min"] ;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs" ;
       fhir:index 0 ;
       fhir:link <https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs>
     ]
  ] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.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>流水號</b>：11450100101120250601220251212</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>"
  ] ;
  fhir:Observation.identifier [
     fhir:index 0 ;
     fhir:Identifier.value [ fhir:value "11450100101120250601220251212" ]
  ] ;
  fhir:Observation.status [ fhir:value "final"] ;
  fhir:Observation.category [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
       fhir:Coding.code [ fhir:value "laboratory" ]
     ]
  ] ;
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:69548-6 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "69548-6" ]
     ]
  ] ;
  fhir:Observation.subject [
     fhir:link <http://hl7.org/fhir/Patient/pat-min> ;
     fhir:Reference.reference [ fhir:value "Patient/pat-min" ]
  ] ;
  fhir:Observation.effectiveDateTime [ fhir:value "2024-01-01"^^xsd:date] ;
  fhir:Observation.performer [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Organization/org-gene-min> ;
     fhir:Reference.reference [ fhir:value "Organization/org-gene-min" ]
  ] ;
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:LA9633-4 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "LA9633-4" ] ;
       fhir:Coding.display [ fhir:value "Present" ]
     ]
  ] ;
  fhir:Observation.interpretation [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation" ] ;
       fhir:Coding.code [ fhir:value "POS" ] ;
       fhir:Coding.display [ fhir:value "Positive" ]
     ]
  ] ;
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:LA26398-0 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "LA26398-0" ] ;
       fhir:Coding.display [ fhir:value "Sequencing" ]
     ]
  ] ;
  fhir:Observation.specimen [
     fhir:link <http://hl7.org/fhir/Specimen/spe-min> ;
     fhir:Reference.reference [ fhir:value "Specimen/spe-min" ]
  ] ;
  fhir:Observation.device [
     fhir:link <http://hl7.org/fhir/Device/dev-min> ;
     fhir:Reference.reference [ fhir:value "Device/dev-min" ]
  ] ;
  fhir:Observation.derivedFrom [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/DocumentReference/doc-gene-min> ;
     fhir:Reference.reference [ fhir:value "DocumentReference/doc-gene-min" ]
  ] ;
  fhir:Observation.component [
     fhir:index 0 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:81247-9 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "81247-9" ] ;
         fhir:Coding.display [ fhir:value "Master HL7 genetic variant reporting panel" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:21636-6 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "21636-6" ] ;
         fhir:Coding.display [ fhir:value "BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6692-3 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6692-3" ]
       ]
     ]
  ], [
     fhir:index 1 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:48004-6 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "48004-6" ] ;
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
         fhir:Coding.code [ fhir:value "NM_005228.4:c.2573T>G" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6692-3 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6692-3" ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:48018-6 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "48018-6" ] ;
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
         fhir:Coding.code [ fhir:value "HGNC:3236" ] ;
         fhir:Coding.display [ fhir:value "EGFR" ]
       ]
     ]
  ], [
     fhir:index 3 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:48018-6 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "48018-6" ] ;
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
         fhir:Coding.code [ fhir:value "#HGNC:1100" ] ;
         fhir:Coding.display [ fhir:value "BRCA1" ]
       ]
     ]
  ], [
     fhir:index 4 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:81290-9 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "81290-9" ] ;
         fhir:Coding.display [ fhir:value "Genomic DNA change (gHGVS)" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
         fhir:Coding.code [ fhir:value "NC_000007.13:g.55259515T>G" ]
       ]
     ]
  ], [
     fhir:index 5 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:81254-5 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "81254-5" ] ;
         fhir:Coding.display [ fhir:value "Genomic allele start-end" ]
       ]
     ] ;
     fhir:Observation.component.valueRange [
       fhir:Range.low [
         fhir:Quantity.value [ fhir:value "96521657"^^xsd:decimal ]
       ] ;
       fhir:Range.high [
         fhir:Quantity.value [ fhir:value "96521657"^^xsd:decimal ]
       ]
     ]
  ] .

<http://hl7.org/fhir/Patient/pat-min> a fhir:Patient .

<http://hl7.org/fhir/Organization/org-gene-min> a fhir:Organization .

<http://hl7.org/fhir/Specimen/spe-min> a fhir:Specimen .

<http://hl7.org/fhir/Device/dev-min> a fhir:Device .

<http://hl7.org/fhir/DocumentReference/doc-gene-min> a fhir:DocumentReference .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/Observation/obs-diagnostic-min.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Observation/obs-diagnostic-min.ttl> .