Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"lungMass-analysis1\"> </a></p><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\">Resource Procedure "lungMass-analysis1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Method Type</b>: Sequence analysis of the entire coding region <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-method-type-cs.html\">Genomic Study Method Type CodeSystem</a>#sequence-analysis-of-the-entire-coding-region)</span></p><p><b>Genomic Study Analysis Change Type</b>: SNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0001483)</span></p><p><b>Genomic Study Analysis Change Type</b>: MNV <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:0002007)</span></p><p><b>Genomic Study Analysis Change Type</b>: delins <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (sequenceontology.org#SO:1000032)</span></p><p><b>Genomic Study Analysis Genome Build</b>: GRCh38 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26806-2)</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-genomicSpecimen.html\">Specimen/genomicSpecimen</a></p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-genomicPatient.html\">Patient/genomicPatient</a> " DOE"</p><blockquote><p><b>Genomic Study Analysis Device</b></p><blockquote><p><b>url</b></p><code>device</code></blockquote><p><b>value</b>: <a href=\"Device-triodenovo-software.html\">Device/triodenovo-software</a></p></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-WES-FullSequencedRegion-GRCh38.html\">DocumentReference/WES-FullSequencedRegion-GRCh38</a></p><blockquote><p><b>url</b></p><code>uncalled</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-UncallableRegions.html\">DocumentReference/UncallableRegions</a></p><blockquote><p><b>url</b></p><code>called</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-SimpleVariantAnalysis-called.html\">DocumentReference/SimpleVariantAnalysis-called</a></p></blockquote><blockquote><p><b>Genomic Study Analysis Output</b></p><blockquote><p><b>url</b></p><code>type</code></blockquote><p><b>value</b>: VCF <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-genomic-study-data-format-cs.html\">Genomic Study Data Format CodeSystem</a>#vcf)</span></p><blockquote><p><b>url</b></p><code>file</code></blockquote><p><b>value</b>: <a href=\"DocumentReference-genomicVCFfile-simple.html\">DocumentReference/genomicVCFfile-simple</a></p></blockquote><p><b>instantiatesUri</b>: <a href=\"https://pubmed.ncbi.nlm.nih.gov/33927380/\">https://pubmed.ncbi.nlm.nih.gov/33927380/</a></p><p><b>status</b>: completed</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>subject</b>: <a href=\"Patient-genomicPatient.html\">Patient/genomicPatient</a> " DOE"</p><p><b>performed</b>: 2019-03-01 01:01:10-0600</p><h3>Performers</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Function</b></td><td><b>Actor</b></td></tr><tr><td style=\"display: none\">*</td><td>Performer <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-ParticipationType.html\">ParticipationType</a>#PRF)</span></td><td><a href=\"Practitioner-practitioner02.html\">Practitioner/practitioner02</a> " DOEL"</td></tr></table><p><b>note</b>: For technical reasons, PIK3CB was deemed uncallable using this method.</p></div>"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
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"valueReference" : {
🔗 "reference" : "Specimen/genomicSpecimen"
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},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
"valueReference" : {
🔗 "reference" : "Patient/genomicPatient"
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},
{
"extension" : [
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"valueReference" : {
🔗 "reference" : "Device/triodenovo-software"
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"extension" : [
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"valueReference" : {
🔗 "reference" : "DocumentReference/WES-FullSequencedRegion-GRCh38"
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🔗 "reference" : "DocumentReference/UncallableRegions"
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🔗 "reference" : "DocumentReference/SimpleVariantAnalysis-called"
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"display" : "VCF"
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🔗 "reference" : "DocumentReference/genomicVCFfile-simple"
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"subject" : {
🔗 "reference" : "Patient/genomicPatient"
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"performedDateTime" : "2019-03-01T01:01:10-06:00",
"performer" : [
{
"function" : {
"coding" : [
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"system" : "http://terminology.hl7.org/CodeSystem/v3-ParticipationType",
"code" : "PRF",
"display" : "Performer"
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"actor" : {
🔗 "reference" : "Practitioner/practitioner02"
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"note" : [
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"text" : "For technical reasons, PIK3CB was deemed uncallable using this method."
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}
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
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