CIBMTR Reporting Implementation Guide
0.1.6 - Trial Use 1

CIBMTR Reporting Implementation Guide - Local Development build (v0.1.6). 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 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><b>Generated Narrative: Observation</b><a name=\"Cytogenetics-Example-1\"> </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 Observation &quot;Cytogenetics-Example-1&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-cibmtr-cytogenetics.html\">CIBMTR Cytogenetics Profile</a></p><p style=\"margin-bottom: 0px\">Security Labels: <span title=\"{http://terminology.cibmtr.org/codesystem/transplant-center http://terminology.cibmtr.org/codesystem/transplant-center}\">http://terminology.cibmtr.org/codesystem/transplant-center</span></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"Patient-PatientExample1.html\">Patient/PatientExample1</a> &quot; DOE&quot;</p><p><b>effective</b>: 2022-05-01</p><p><b>method</b>: Fluorescence in situ hybridization <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#426329006)</span></p><blockquote><p><b>component</b></p><p><b>code</b>: Variant ISCN <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81291-7)</span></p><p><b>value</b>: 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 style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-ISCN.html\">International System for Human Cytogenomic Nomenclature (ISCN)</a>#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>: Genomic source class <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48002-0)</span></p><p><b>value</b>: Somatic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6684-0)</span></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: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 [ 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" ]       ] )     ]
  ] ) . #