臺灣次世代基因定序檢測實作指引
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臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: obs-variant-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-variant-min"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://example.org/StructureDefinition/Observation-variant-twngs"^^xsd:anyURI ;
fhir:l <http://example.org/StructureDefinition/Observation-variant-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-variant-min</b></p><a name=\"obs-variant-min\"> </a><a name=\"hcobs-variant-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-variant-twngs.html\">短序列DNA變異資訊-Observation Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</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>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-variant-cs transcriptDB}\">轉錄本資料庫名稱</span></p><p><b>value</b>: RefSeq</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDBVersion}\">轉錄本參考資料庫版本</span></p><p><b>value</b>: 115</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: NM_000038.6</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: c.4393_4394del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: APC</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: p.Ser1465fs</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 48.9 %<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 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6692-3}\">Deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: NC_000005.10</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: g.112839979_112839980del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs proteinRefId}\">蛋白質參考序列編號</span></p><p><b>value</b>: NP_000029.2</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs aminoAcidChangeType}\">胺基酸變異類型</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6694-9}\">Frameshift</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 440</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs totalReadDepth}\">變異區測序總讀數</span></p><p><b>value</b>: 900</p></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:code [
    ( fhir:coding [
a loinc:69548-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>       ] ;
fhir:code [ fhir:v "69548-6" ]     ] )
  ] ; # 
  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: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-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>         ] ;
fhir:code [ fhir:v "transcriptDB" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "RefSeq"     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>         ] ;
fhir:code [ fhir:v "transcriptDBVersion" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "115"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:51958-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "51958-7" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "NM_000038.6"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48004-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48004-6" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "c.4393_4394del"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48018-6" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "APC"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48005-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48005-3" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "p.Ser1465fs"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81258-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "81258-6" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v 48.9 ] ;
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:48019-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48019-4" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6692-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA6692-3" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48013-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48013-7" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "NC_000005.10"     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81290-9 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "81290-9" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "g.112839979_112839980del"     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>         ] ;
fhir:code [ fhir:v "proteinRefId" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "NP_000029.2"     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>         ] ;
fhir:code [ fhir:v "aminoAcidChangeType" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6694-9 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA6694-9" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:82121-5 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "82121-5" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "440"^^xsd:decimal ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>         ] ;
fhir:code [ fhir:v "totalReadDepth" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "900"^^xsd:decimal ]     ]
  ] ) . #