GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

: PrenatalGenomicStudyPatientMale - XML Representation

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="PrenatalGenomicStudyPatientMale"/>
  <meta>
    <versionId value="2"/>
    <lastUpdated value="2024-10-02T03:41:29.698+00:00"/>
    <source value="#DEqMJP5Koyub2naR"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Procedure PrenatalGenomicStudyPatientMale</b></p><a name="PrenatalGenomicStudyPatientMale"> </a><a name="hcPrenatalGenomicStudyPatientMale"> </a><a name="PrenatalGenomicStudyPatientMale-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">version: 2; Last updated: 2024-10-02 03:41:29+0000; </p><p style="margin-bottom: 0px">Information Source: #DEqMJP5Koyub2naR</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-genomic-study.html">Genomic Study</a></p></div><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale.html">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = autosomal recessive spastic ataxia of Charlevoix-Saguenay - SACS. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European 99%,No disease-causing mutations were detected in any other gene tested for autosomal recessive spastic ataxia of Charlevoix-Saguenay,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale.html">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = familial hyperinsulinism, ABCC8-related - ABCC8. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European &gt;99%,No disease-causing mutations were detected in any other gene tested for familial hyperinsulinism, ABCC8-related,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-PrenatalGenomicStudyAnalysisAlpha1ADPatientMale.html">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = alpha-1 antitrypsin deficiency - SERPINA1. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European &gt;99%,No disease-causing mutations were detected in any other gene tested for alpha-1 antitrypsin deficiency,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024</a></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Patient-PatientMale.html">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))</a></p><p><b>performed</b>: 2024-07-09</p><p><b>reasonCode</b>: <span title="Codes:{http://snomed.info/sct 169565003}">Pregnant - planned (finding)</span></p><p><b>note</b>: The &lt;b&gt;Organization Prenatal Carrier Screen&lt;/b&gt; utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.</p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
    <valueReference>🔗 
      <reference
                 value="Procedure/PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
    <valueReference>🔗 
      <reference
                 value="Procedure/PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
    <valueReference>🔗 
      <reference
                 value="Procedure/PrenatalGenomicStudyAnalysisAlpha1ADPatientMale"/>
    </valueReference>
  </extension>
  <status value="completed"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <subject>🔗 
    <reference value="Patient/PatientMale"/>
  </subject>
  <performedDateTime value="2024-07-09"/>
  <reasonCode>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="169565003"/>
      <display value="Pregnant - planned (finding)"/>
    </coding>
  </reasonCode>
  <note>
    <text
          value="The &lt;b&gt;Organization Prenatal Carrier Screen&lt;/b&gt; utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease."/>
  </note>
</Procedure>