Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: EGFR-L858R-therapuDrug2 - 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 rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "EGFR-L858R-therapuDrug2"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation EGFR-L858R-therapuDrug2</b></p><a name=\"EGFR-L858R-therapuDrug2\"> </a><a name=\"hcEGFR-L858R-therapuDrug2\"> </a><a name=\"EGFR-L858R-therapuDrug2-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"Patient-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --&gt; (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href=\"Practitioner-pathologistPractitioner.html\">Practitioner Test Dolin </a></p><p><b>derivedFrom</b>: <a href=\"Observation-EGFR-L858R-var.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6677-4}\">Responsive</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: No display for RelatedArtifact  (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 93044-6}\">Level of evidence</span></p><p><b>value</b>: <span title=\"Codes:\">Tier I - Level A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 254637007}\">Non-small cell lung cancer</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: No display for RelatedArtifact  (type: citation; url: https://www.cancer.net/cancer-types/lung-cancer-non-small-cell/types-treatment)</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes:\">Erlotinib</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: No display for RelatedArtifact  (type: citation; url: https://civicdb.org/evidence/2994/summary)</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: Non-small cell lung cancer with EGFR L858R mutation is sensitive to erlotinib</p></blockquote></div>"
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "therapeutic-implication" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/somaticPatient" ]
  ] ; # 
  fhir:effective [ fhir:v "2023-02-01"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Practitioner/pathologistPractitioner" ]
  ] ) ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "Observation/EGFR-L858R-var" ]
  ] ) ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "therapeutic-implication" ] ;
fhir:display [ fhir:v "Therapeutic Implication" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6677-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6677-4" ] ;
fhir:display [ fhir:v "Responsive" ]       ] )     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "citation" ] ;
fhir:url [ fhir:v "https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"^^xsd:anyURI ]       ]     ] ) ;
fhir:code [
      ( fhir:coding [
a loinc:93044-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "93044-6" ] ;
fhir:display [ fhir:v "Level of evidence" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "Tier I - Level A" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81259-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81259-4" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a sct:254637007 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "254637007" ] ;
fhir:display [ fhir:v "Non-small cell lung cancer (disorder)" ]       ] ) ;
fhir:text [ fhir:v "Non-small cell lung cancer" ]     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "citation" ] ;
fhir:url [ fhir:v "https://www.cancer.net/cancer-types/lung-cancer-non-small-cell/types-treatment"^^xsd:anyURI ]       ]     ] ) ;
fhir:code [
      ( fhir:coding [
a loinc:51963-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "51963-7" ] ;
fhir:display [ fhir:v "Medication assessed" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:text [ fhir:v "Erlotinib" ]     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "citation" ] ;
fhir:url [ fhir:v "https://civicdb.org/evidence/2994/summary"^^xsd:anyURI ]       ]     ] ) ;
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "conclusion-string" ]       ] )     ] ;
fhir:value [ fhir:v "Non-small cell lung cancer with EGFR L858R mutation is sensitive to erlotinib" ]
  ] ) . #