Lung non-small cell lung carcinoma (NOS) 基因檢測資訊 - TTL Representation - 臺灣次世代基因定序檢測實作指引 v1.0.1

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
: Lung non-small cell lung carcinoma (NOS) 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-nos-min> a fhir:Observation ;
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  fhir:DomainResource.text [
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     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>：114501001011202506011</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-lung-min.html\">DocumentReference/doc-lung-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>：2024-07-17</p><blockquote><p>基因檢測項目：TP53 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>#21739-8)</span></p><p>基因檢測列表：TP53、KEAP1、KRAS、MTAP、CDKN2A、CDKN2B、ATR、FLT1、NOTCH2、PDGFRA、PMS2、PRDM1、RAC1、RET、ALK、BRAF、EGFR、ERBB2、MET、ROS1 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\">(<a href=\"http://www.genenames.org/\">HGNC Gene ID</a>)</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><span/><p><b>DNA 變異列表 (c.HGVS)</b></p><ul><li>NM_001184.3:c.4408G&gt;A (APC) — Substitution</li><li>NM_001184.3:c.2503T&gt;G (APC) — Substitution</li><li>NM_024408.3:c.5403G&gt;T (ARID1A) — Substitution</li><li>NM_006206.4:c.1319C&gt;T (ASXL1) — Substitution</li><li>NM_001198.3:c.1214C&gt;G (ATM) — Substitution</li><li>NM_020975.4:c.874G&gt;A (ATRX) — Substitution</li></ul></blockquote></div>"
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     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:10261" ] ;
         fhir:Coding.display [ fhir:value "ROS1" ]
       ]
     ]
  ], [
     fhir:index 21 ;
     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_001184.3:c.4408G>A" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ], [
     fhir:index 22 ;
     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_001184.3:c.2503T>G" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ], [
     fhir:index 23 ;
     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_024408.3:c.5403G>T" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ], [
     fhir:index 24 ;
     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_006206.4:c.1319C>T" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ], [
     fhir:index 25 ;
     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_001198.3:c.1214C>G" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ], [
     fhir:index 26 ;
     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_020975.4:c.874G>A" ]
       ]
     ] ;
     fhir:Observation.component.interpretation [
       fhir:index 0 ;
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6690-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ] .

<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-nos-min> a fhir:DocumentReference .

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

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