Diagnosticreport-genetics-example-2-familyhistory.ttl

An example of a genetics test report with Family member history

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/owl#> .
@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/DiagnosticReport/dg2> a fhir:DiagnosticReport;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "dg2"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n          \n          \n          <h3>Genetic test Report for Marry Chalmers (MRN: 12345) </h3>\n          \n          <pre>\n              Gene                DNAVariation       Status        Interpretation\n              BRCA1                                 Negative\n              BRCA2                 185delAG        Positive         Pathogenic\n          </pre>\n          <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n          <p> Issued: 2015-05-26T15:30:10+01:00</p>\n          <p> FamilyMemeberHistory: Mother </p>\n          <pre>\n              Gene                 DNAVariation      Status\n              BRCA2                 185delAG        Positive\n          </pre>\n          <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n          \n      </div>"
  ];
  fhir:DomainResource.contained [
     a fhir:FamilyMemberHistory;
     fhir:index 0;
     fhir:Resource.id [ fhir:value "f1-genetics" ];
     fhir:DomainResource.extension [
       fhir:index 0;
       fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation" ];
       fhir:Extension.valueReference [
         fhir:link <http://hl7.org/fhir/Observation/dgf1>;
         fhir:Reference.reference [ fhir:value "Observation/dgf1" ]
       ]
     ];
     fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
     fhir:FamilyMemberHistory.patient [
       fhir:link <http://hl7.org/fhir/Patient/example>;
       fhir:Reference.reference [ fhir:value "Patient/example" ]
     ];
     fhir:FamilyMemberHistory.relationship [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/v3/RoleCode" ];
         fhir:Coding.code [ fhir:value "MTH" ];
         fhir:Coding.display [ fhir:value "Mother" ]
       ]
     ]
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "#f1-genetics" ]
     ]
  ];
  fhir:DiagnosticReport.status [ fhir:value "final"];
  fhir:DiagnosticReport.category [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a sct:15220000;
       fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
       fhir:Coding.code [ fhir:value "15220000" ];
       fhir:Coding.display [ fhir:value "Laboratory test" ]
     ], [
       fhir:index 1;
       fhir:Coding.system [ fhir:value "http://hl7.org/fhir/v2/0074" ];
       fhir:Coding.code [ fhir:value "LAB" ]
     ]
  ];
  fhir:DiagnosticReport.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:55233-1;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "55233-1" ];
       fhir:Coding.display [ fhir:value "Genetic analysis master panel" ]
     ]
  ];
  fhir:DiagnosticReport.subject [
     fhir:link <http://hl7.org/fhir/Patient/example>;
     fhir:Reference.reference [ fhir:value "Patient/example" ];
     fhir:Reference.display [ fhir:value "Peter James Chalmers(MRN: 12345)" ]
  ];
  fhir:DiagnosticReport.effectiveDateTime [ fhir:value "2015-05-26T15:30:10+01:00"^^xsd:dateTime];
  fhir:DiagnosticReport.issued [ fhir:value "2014-05-16T10:28:00+01:00"^^xsd:dateTime];
  fhir:DiagnosticReport.performer [
     fhir:index 0;
     fhir:DiagnosticReport.performer.actor [
       fhir:link <http://hl7.org/fhir/Practitioner/genetics-example2>;
       fhir:Reference.reference [ fhir:value "Practitioner/genetics-example2" ];
       fhir:Reference.display [ fhir:value "Molecular Diagnostic Laboratory" ]
     ]
  ];
  fhir:DiagnosticReport.specimen [
     fhir:index 0;
     fhir:link <http://hl7.org/fhir/Specimen/genetics-example2>;
     fhir:Reference.reference [ fhir:value "Specimen/genetics-example2" ];
     fhir:Reference.display [ fhir:value "Molecular Specimen ID: MLD45-Z4-1234" ]
  ];
  fhir:DiagnosticReport.result [
     fhir:index 0;
     fhir:link <http://hl7.org/fhir/Observation/ob-genetics-3-1>;
     fhir:Reference.reference [ fhir:value "Observation/ob-genetics-3-1" ];
     fhir:Reference.display [ fhir:value "Genetic analysis for BRAC -1" ]
  ], [
     fhir:index 1;
     fhir:link <http://hl7.org/fhir/Observation/ob-genetics-3-2>;
     fhir:Reference.reference [ fhir:value "Observation/ob-genetics-3-2" ];
     fhir:Reference.display [ fhir:value "Genetic analysis for BRAC -2" ]
  ] .

<http://hl7.org/fhir/Observation/dgf1> a fhir:Observation .

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

<http://hl7.org/fhir/Practitioner/genetics-example2> a fhir:Practitioner .

<http://hl7.org/fhir/Specimen/genetics-example2> a fhir:Specimen .

<http://hl7.org/fhir/Observation/ob-genetics-3-1> a fhir:Observation .

<http://hl7.org/fhir/Observation/ob-genetics-3-2> a fhir:Observation .

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

<http://hl7.org/fhir/DiagnosticReport/dg2.ttl> a owl:Ontology;
  owl:imports fhir:fhir.ttl;
  owl:versionIRI <http://hl7.org/fhir/STU3/DiagnosticReport/dg2.ttl> .

# -------------------------------------------------------------------------------------