CIBMTR Reporting Implementation Guide
0.1.12 - Trial Use 1

This page is part of the CIBMTR Reporting Implementation Guide (v0.1.12: Release) 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

Raw ttl | Download


@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://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 -------------------------------------------------------------------

<http://hl7.org/fhir/Observation/Cytogenetics-Example-1> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "Cytogenetics-Example-1"] ;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://fhir.nmdp.org/ig/cibmtr-reporting/StructureDefinition/cibmtr-cytogenetics" ;
       fhir:index 0 ;
       fhir:link <http://fhir.nmdp.org/ig/cibmtr-reporting/StructureDefinition/cibmtr-cytogenetics>
     ] ;
     fhir:Meta.security [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.cibmtr.org/codesystem/transplant-center" ] ;
       fhir:Coding.code [ fhir:value "rc_99999" ] ;
       fhir:Coding.display [ fhir:value "99999 My Transplant Center" ]
     ]
  ] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.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><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-cibmtr-cytogenetics.html\">CIBMTR Cytogenetics Profile</a></p><p style=\"margin-bottom: 0px\">Security Label: </p></div><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>,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>"
  ] ;
  fhir:Observation.status [ fhir:value "final"] ;
  fhir:Observation.category [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
       fhir:Coding.code [ fhir:value "laboratory" ]
     ]
  ] ;
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:69548-6 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "69548-6" ] ;
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]
     ]
  ] ;
  fhir:Observation.subject [
     fhir:link <http://hl7.org/fhir/Patient/PatientExample1> ;
     fhir:Reference.reference [ fhir:value "Patient/PatientExample1" ]
  ] ;
  fhir:Observation.effectiveDateTime [ fhir:value "2022-05-01"^^xsd:date] ;
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a sct:426329006 ;
       fhir:Coding.system [ fhir:value "http://snomed.info/sct" ] ;
       fhir:Coding.code [ fhir:value "426329006" ] ;
       fhir:Coding.display [ fhir:value "Fluorescence in situ hybridization" ]
     ]
  ] ;
  fhir:Observation.component [
     fhir:index 0 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:81291-7 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "81291-7" ] ;
         fhir:Coding.display [ fhir:value "Variant ISCN" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "https://iscn.karger.com" ] ;
         fhir:Coding.code [ fhir:value "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:index 1 ;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:48002-0 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "48002-0" ] ;
         fhir:Coding.display [ fhir:value "Genomic source class" ]
       ]
     ] ;
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         a loinc:LA6684-0 ;
         fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
         fhir:Coding.code [ fhir:value "LA6684-0" ] ;
         fhir:Coding.display [ fhir:value "Somatic" ]
       ]
     ]
  ] .

<http://hl7.org/fhir/Patient/PatientExample1> a fhir:Patient .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/Observation/Cytogenetics-Example-1.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Observation/Cytogenetics-Example-1.ttl> .