CIBMTR Reporting Implementation Guide
0.1.8 - Trial Use 1

This page is part of the CIBMTR Reporting Implementation Guide (v0.1.8: Release Draft) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Cytogenetics-Example-1 - 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 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 "Cytogenetics-Example-1"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://fhir.nmdp.org/ig/cibmtr-reporting/StructureDefinition/cibmtr-cytogenetics"^^xsd:anyURI ;
fhir:link <http://fhir.nmdp.org/ig/cibmtr-reporting/StructureDefinition/cibmtr-cytogenetics>     ] ) ;
    ( fhir:security [
fhir:system [ fhir:v "http://terminology.cibmtr.org/codesystem/transplant-center"^^xsd:anyURI ] ;
fhir:code [ fhir:v "rc_99999" ] ;
fhir:display [ fhir:v "99999 My Transplant Center" ]     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation Cytogenetics-Example-1</b></p><a name=\"Cytogenetics-Example-1\"> </a><a name=\"hcCytogenetics-Example-1\"> </a><a name=\"Cytogenetics-Example-1-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></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-PatientExample1.html\">Jane Doe  Female, DoB Unknown ( http://example.org/mrn#abc)</a></p><p><b>effective</b>: 2022-05-01</p><p><b>method</b>: <span title=\"Codes:{http://snomed.info/sct 426329006}\">Fluorescence in situ hybridization</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81291-7}\">Variant ISCN</span></p><p><b>value</b>: <span title=\"Codes:{https://iscn.karger.com 47&lt;2n&gt;,XY,-7,+8,t(9;22)(q34.1;q11.2),i(17)(q10),+der(22)t(9;22)(q34.1;q11.2)}\">47&lt;2n&gt;,XY,-7,+8,t(9;22)(q34.1;q11.2),i(17)(q10),+der(22)t(9;22)(q34.1;q11.2)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</span></p></blockquote></div>"^^rdf:XMLLiteral
  ] ; # 
  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:code [
    ( fhir:coding [
a loinc:69548-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69548-6" ] ;
fhir:display [ fhir:v "Genetic variant assessment" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/PatientExample1" ]
  ] ; # 
  fhir:effective [
a fhir:dateTime ;
fhir:v "2022-05-01"^^xsd:date
  ] ; # 
  fhir:method [
    ( fhir:coding [
a sct:426329006 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "426329006" ] ;
fhir:display [ fhir:v "Fluorescence in situ hybridization" ]     ] )
  ] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:81291-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81291-7" ] ;
fhir:display [ fhir:v "Variant ISCN" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "https://iscn.karger.com"^^xsd:anyURI ] ;
fhir:code [ fhir:v "47<2n>,XY,-7,+8,t(9;22)(q34.1;q11.2),i(17)(q10),+der(22)t(9;22)(q34.1;q11.2)" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48002-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48002-0" ] ;
fhir:display [ fhir:v "Genomic source class" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6684-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6684-0" ] ;
fhir:display [ fhir:v "Somatic" ]       ] )     ]
  ] ) . #