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" : "Observation",
"id" : "ISCN-NormalExample",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation ISCN-NormalExample</b></p><a name=\"ISCN-NormalExample\"> </a><a name=\"hcISCN-NormalExample\"> </a><a name=\"ISCN-NormalExample-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 81291-7}\">Variant ISCN</span></td><td><span title=\"Codes:{https://iscn.karger.com 46,XX}\">46,XX</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
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]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
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]
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],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6"
}
]
},
"subject" : {
🔗 "reference" : "Patient/CGPatientExample01"
},
"effectiveDateTime" : "2019-04-01",
"performer" : [
{
🔗 "reference" : "Organization/ExampleOrg"
}
],
"valueCodeableConcept" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "LA9633-4",
"display" : "Present"
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"component" : [
{
"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "81291-7",
"display" : "Variant ISCN"
}
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"valueCodeableConcept" : {
"coding" : [
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"system" : "https://iscn.karger.com",
"code" : "46,XX"
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}