Birth Defects Reporting - STU1
0.1.2 - draft

Birth Defects Reporting - STU1, published by HL7 International / Public Health. This guide is not an authorized publication; it is the continuous build for version 0.1.2 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-birthdefectsreporting-ig/ and changes regularly. See the Directory of published versions

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

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

     a fhir:DiagnosticReport ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "DiagnosticGeneticTestResultExample"] ; #
      fhir:meta [
        ( fhir:profile [
    fhir:v "http://hl7.org/fhir/us/core/StructureDefinition/us-core-diagnosticreport-lab"^^xsd:anyURI ;
    fhir:link <http://hl7.org/fhir/us/core/StructureDefinition/us-core-diagnosticreport-lab>     ] )
      ] ; #
      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: DiagnosticReport DiagnosticGeneticTestResultExample</b></p><a name=\"DiagnosticGeneticTestResultExample\"> </a><a name=\"hcDiagnosticGeneticTestResultExample\"> </a><a name=\"DiagnosticGeneticTestResultExample-en-US\"> </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=\"http://hl7.org/fhir/us/core/STU7/StructureDefinition-us-core-diagnosticreport-lab.html\">US Core DiagnosticReport Profile for Laboratory Results Reporting</a></p></div><h2><span title=\"Codes:{http://loinc.org 77314-3}\">Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 LAB}\">Laboratory</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Gene Austin Wellington (official) Male, DoB: 2020-04-28 ( Medical record number)</td></tr><tr><td>When For</td><td>2024-07-05</td></tr><tr><td>Reported</td><td>2024-07-06 11:45:33+0000</td></tr><tr><td>Performer</td><td> <a href=\"Organization-ClinicSubmitterExample.html\">XYZ Clinic</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-ObservationChromosomeExample.html\"><span title=\"Codes:{http://loinc.org 62356-1}\">Chromosome analysis result in ISCN expression</span></a></td><td>46,XY,del(5)(q13q33)</td><td>Final</td><td>2024-07-06 11:45:33+0000</td></tr><tr><td><a href=\"Observation-ObservationInterpretationExample.html\"><span title=\"Codes:{http://loinc.org 22637-3}\">Pathology report final diagnosis Narrative</span></a></td><td>Deletion of the long arm of chromosome 5.</td><td>Final</td><td>2024-07-06 11:45:33+0000</td></tr></table><p>Deletion of the long arm of chromosome 5.</p></div>"^^rdf:XMLLiteral
      ] ; #
      fhir:status [ fhir:v "final"] ; #
      fhir:category ( [
        ( fhir:coding [
    fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LAB" ] ;
    fhir:display [ fhir:v "Laboratory" ]     ] )
      ] ) ; #
      fhir:code [
        ( fhir:coding [
    a loinc:77314-3 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "77314-3" ] ;
    fhir:display [ fhir:v "Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics" ]     ] )
      ] ; #
      fhir:subject [
    fhir:reference [ fhir:v "Patient/PatientChildExample" ] ;
    fhir:display [ fhir:v "Child Patient" ]
      ] ; #
      fhir:effective [
    a fhir:dateTime ;
    fhir:v "2024-07-05"^^xsd:date
      ] ; #
      fhir:issued [ fhir:v "2024-07-06T11:45:33Z"^^xsd:dateTime] ; #
      fhir:performer ( [
    fhir:reference [ fhir:v "Organization/ClinicSubmitterExample" ] ;
    fhir:display [ fhir:v "XYZ Clinic" ]
      ] ) ; #
      fhir:specimen ( [
    fhir:reference [ fhir:v "Specimen/Specimen1Example" ]
      ] ) ; #
      fhir:result ( [
    fhir:reference [ fhir:v "Observation/ObservationChromosomeExample" ]
      ] [
    fhir:reference [ fhir:v "Observation/ObservationInterpretationExample" ]
      ] ) ; #
      fhir:conclusion [ fhir:v "Deletion of the long arm of chromosome 5."] . #