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
{
"resourceType" : "Procedure",
"id" : "PrenatalGenomicStudyAnalysisAlpha1ADPatientMale",
"meta" : {
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"lastUpdated" : "2024-10-02T03:41:29.698+00:00",
"source" : "#DEqMJP5Koyub2naR",
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
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"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PrenatalGenomicStudyAnalysisAlpha1ADPatientMale</b></p><a name=\"PrenatalGenomicStudyAnalysisAlpha1ADPatientMale\"> </a><a name=\"hcPrenatalGenomicStudyAnalysisAlpha1ADPatientMale\"> </a><a name=\"PrenatalGenomicStudyAnalysisAlpha1ADPatientMale-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_000295}\">Exons: NM_000295:2-5</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:8941}\">SERPINA1</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\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>performed</b>: 2024-07-09</p><p><b>note</b>: 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</p></div>"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class",
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"system" : "http://loinc.org",
"code" : "LA6683-2",
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
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"valueString" : "Exons sequenced"
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"code" : "NM_000295",
"display" : "Exons: NM_000295:2-5"
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],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
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{
"extension" : [
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"url" : "description",
"valueString" : "Genes studied"
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"system" : "http://www.genenames.org",
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
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{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept" : {
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"code" : "101397-8",
"display" : "Copy number variation analysis in Blood or Tissue by Sequencing"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept" : {
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"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
"code" : "sequence-analysis-of-select-exons",
"display" : "Sequence analysis of select exons"
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],
"status" : "completed",
"subject" : {
🔗 "reference" : "Patient/PatientMale"
},
"performedDateTime" : "2024-07-09",
"note" : [
{
"text" : "alpha-1 antitrypsin deficiency - SERPINA1. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%"
},
{
"text" : "No disease-causing mutations were detected in any other gene tested for alpha-1 antitrypsin deficiency"
},
{
"text" : "Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024"
},
{
"text" : "Report content approved by Krista Moyer, MGC on Jul 9, 2024"
}
]
}