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
<Procedure xmlns="http://hl7.org/fhir">
<id value="PrenatalGenomicStudyPatientMale"/>
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<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 >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 >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 <b>Organization Prenatal Carrier Screen</b> 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>
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value="Procedure/PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale"/>
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<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
<valueReference>🔗
<reference
value="Procedure/PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"/>
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</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
<valueReference>🔗
<reference
value="Procedure/PrenatalGenomicStudyAnalysisAlpha1ADPatientMale"/>
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<status value="completed"/>
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<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
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<subject>🔗
<reference value="Patient/PatientMale"/>
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<performedDateTime value="2024-07-09"/>
<reasonCode>
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<system value="http://snomed.info/sct"/>
<code value="169565003"/>
<display value="Pregnant - planned (finding)"/>
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<note>
<text
value="The <b>Organization Prenatal Carrier Screen</b> 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>