Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: lungMass-analysis2 - TTL Representation

Raw ttl | Download


@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 xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:Procedure ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "lungMass-analysis2"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"lungMass-analysis2\"> </a></p><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\">Resource Procedure &quot;lungMass-analysis2&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Method Type</b>: Deletion/duplication analysis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-method-type-cs.html\">Genomic Study Method Type CodeSystem</a>#deletion-duplication-analysis)</span></p><p><b>Genomic Study Analysis Change Type</b>: CNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0001019)</span></p><p><b>Genomic Study Analysis Genome Build</b>: GRCh38 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26806-2)</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-genomicSpecimen.html\">Specimen/genomicSpecimen</a></p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-genomicPatient.html\">Patient/genomicPatient</a> &quot; DOE&quot;</p><blockquote><p><b>Genomic Study Analysis Regions</b></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-WES-FullSequencedRegion-GRCh38.html\">DocumentReference/WES-FullSequencedRegion-GRCh38</a></p><blockquote><p><b>url</b></p><code>called</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-CNVAnalysis-called.html\">DocumentReference/CNVAnalysis-called</a></p></blockquote><blockquote><p><b>Genomic Study Analysis Output</b></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: VCF <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-data-format-cs.html\">Genomic Study Data Format CodeSystem</a>#vcf)</span></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicVCFfile-cnv.html\">DocumentReference/genomicVCFfile-cnv</a></p></blockquote><p><b>instantiatesUri</b>: <a href=\"https://pubmed.ncbi.nlm.nih.gov/33927380/\">https://pubmed.ncbi.nlm.nih.gov/33927380/</a></p><p><b>status</b>: completed</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>subject</b>: <a href=\"Patient-genomicPatient.html\">Patient/genomicPatient</a> &quot; DOE&quot;</p><p><b>performed</b>: 2019-03-01 01:01:10-0600</p><h3>Performers</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Function</b></td><td><b>Actor</b></td></tr><tr><td style=\"display: none\">*</td><td>Performer <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-ParticipationType.html\">ParticipationType</a>#PRF)</span></td><td><a href=\"Practitioner-practitioner02.html\">Practitioner/practitioner02</a> &quot; DOEL&quot;</td></tr></table><p><b>note</b>: For technical reasons, PIK3CB was deemed uncallable using this method.</p></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "deletion-duplication-analysis" ] ;
fhir:display [ fhir:v "Deletion/duplication analysis" ]       ] )     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://sequenceontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "SO:0001019" ] ;
fhir:display [ fhir:v "CNV" ]       ] )     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA26806-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26806-2" ] ;
fhir:display [ fhir:v "GRCh38" ]       ] )     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Specimen/genomicSpecimen" ]     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Patient/genomicPatient" ]     ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "studied"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "DocumentReference/WES-FullSequencedRegion-GRCh38" ]       ]     ] [
fhir:url [ fhir:v "called"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "DocumentReference/CNVAnalysis-called" ]       ]     ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"^^xsd:anyURI ]
  ] [
    ( fhir:extension [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
        ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "vcf" ] ;
fhir:display [ fhir:v "VCF" ]         ] )       ]     ] [
fhir:url [ fhir:v "file"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "DocumentReference/genomicVCFfile-cnv" ]       ]     ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output"^^xsd:anyURI ]
  ] ) ; # 
  fhir:instantiatesUri ( [ fhir:v "https://pubmed.ncbi.nlm.nih.gov/33927380/"^^xsd:anyURI] ) ; # 
  fhir:status [ fhir:v "completed"] ; # 
  fhir:category [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/genomicPatient" ]
  ] ; # 
  fhir:performed [ fhir:v "2019-03-01T01:01:10-06:00"^^xsd:dateTime] ; # 
  fhir:performer ( [
fhir:function [
      ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-ParticipationType"^^xsd:anyURI ] ;
fhir:code [ fhir:v "PRF" ] ;
fhir:display [ fhir:v "Performer" ]       ] )     ] ;
fhir:actor [
fhir:reference [ fhir:v "Practitioner/practitioner02" ]     ]
  ] ) ; # 
  fhir:note ( [
fhir:text [ fhir:v "For technical reasons, PIK3CB was deemed uncallable using this method." ]
  ] ) . #