Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
{
"resourceType" : "DiagnosticReport",
"id" : "GenomicReportExample01",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport GenomicReportExample01</b></p><a name=\"GenomicReportExample01\"> </a><a name=\"hcGenomicReportExample01\"> </a><a name=\"GenomicReportExample01-en-US\"> </a><h2><span title=\"Codes:{http://loinc.org 51969-4}, {http://loinc.org 57979-7}\">HLA-B*15:02 [Presence]</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123\u00a0(use:\u00a0usual,\u00a0))</td></tr><tr><td>When For</td><td>2016</td></tr><tr><td>Reported</td><td>2018-03-06 00:00:00-0500</td></tr><tr><td>Performer</td><td> <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-TherapeuticImplicationExample1.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2019-04-01</td></tr><tr><td><a href=\"Observation-GenotypeExample1.html\"><span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 14909}\">HLA-B*15:02</span></td><td>Final</td><td>2019-04-01</td></tr></table><p>Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference" : {
🔗 "reference" : "Task/MedicationRecommendationExample1"
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
"valueRelatedArtifact" : {
"type" : "citation",
"url" : "https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19)"
}
}
],
"basedOn" : [
{
🔗 "reference" : "ServiceRequest/GenomicServiceRequestExample01"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51969-4"
},
{
"system" : "http://loinc.org",
"code" : "57979-7",
"display" : "HLA-B*15:02 [Presence]"
}
]
},
"subject" : {
🔗 "reference" : "Patient/CGPatientExample01"
},
"effectiveDateTime" : "2016",
"issued" : "2018-03-06T00:00:00-05:00",
"performer" : [
{
🔗 "reference" : "Organization/ExampleOrg"
}
],
"result" : [
{
🔗 "reference" : "Observation/TherapeuticImplicationExample1",
"display" : "impact for high risk allele"
},
{
🔗 "reference" : "Observation/GenotypeExample1"
}
],
"conclusion" : "Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.",
"conclusionCode" : [
{
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6576-8",
"display" : "Positive"
}
]
}
]
}