臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build

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: obs-biomarker-min - 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-biomarker-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://example.org/StructureDefinition/Observation-biomarker-twngs"^^xsd:anyURI ;
fhir:l <http://example.org/StructureDefinition/Observation-biomarker-twngs>     ] )
  ] ; # 
  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: Observation obs-biomarker-min</b></p><a name=\"obs-biomarker-min\"> </a><a name=\"hcobs-biomarker-min\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-biomarker-twngs.html\">基因生物標記資訊-Observation Biomarker TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs biomarker}\">Biomarker</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>note</b>: </p><blockquote><div><p>HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss</p>\n</div></blockquote><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs msiScore}\">MSI Score</span></p><p><b>value</b>: 30 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81695-9}\">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26203-2}\">MSI-H</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>value</b>: 10 Muts/Mb</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94077-5}\">Tumor mutation burden [Interpretation]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9194-7}\">Low</span></p></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs>       ] ;
fhir:code [ fhir:v "biomarker" ]     ] )
  ] ; # 
  fhir:subject [
fhir:l fhir:Patient/pat-min ;
fhir:reference [ fhir:v "Patient/pat-min" ]
  ] ; # 
  fhir:effective [
a fhir:DateTime ;
fhir:v "2024-01-01"^^xsd:date
  ] ; # 
  fhir:note ( [
fhir:text [ fhir:v "HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss" ]
  ] ) ; # 
  fhir:specimen [
fhir:l fhir:Specimen/spe-bld-min ;
fhir:reference [ fhir:v "Specimen/spe-bld-min" ]
  ] ; # 
  fhir:device [
fhir:l fhir:Device/dev-min ;
fhir:reference [ fhir:v "Device/dev-min" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:l fhir:DocumentReference/doc-gene-min ;
fhir:reference [ fhir:v "DocumentReference/doc-gene-min" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-observation-type-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-observation-type-cs>         ] ;
fhir:code [ fhir:v "msiScore" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "30"^^xsd:decimal ] ;
fhir:unit [ fhir:v "%" ] ;
fhir:system [
fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
fhir:l <http://unitsofmeasure.org>       ] ;
fhir:code [ fhir:v "%" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81695-9 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "81695-9" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA26203-2 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA26203-2" ]       ] ) ;
fhir:text [ fhir:v "MSI-H" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:94076-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "94076-7" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "10"^^xsd:decimal ] ;
fhir:unit [ fhir:v "Muts/Mb" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:94077-5 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "94077-5" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA9194-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA9194-7" ]       ] ) ;
fhir:text [ fhir:v "Low" ]     ]
  ] ) . #