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
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale</b></p><a name="PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"> </a><a name="hcPrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"> </a><a name="PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale-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: 1; 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-analysis.html">Genomic Study Analysis</a></p></div><p><b>org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p><p><b>Genomic Study Analysis Genome Build</b>: <span title="Codes:{http://loinc.org LA14029-5}">GRCh37</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: Exons sequenced</li><li>studied: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000352}">Exons: NM_000352:1-39</span></li></ul></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: Genes studied</li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:59}">ABCC8</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org 101397-8}">Copy number variation analysis in Blood or Tissue by Sequencing</span></p><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs sequence-analysis-of-select-exons}">Sequence analysis of select exons</span></p><p><b>status</b>: Completed</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>note</b>: 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</p></div>
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<subject>🔗
<reference value="Patient/PatientMale"/>
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value="familial hyperinsulinism, ABCC8-related - ABCC8. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%"/>
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