This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v0.9.1: STU 1 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 4.0.0. For a full list of available versions, see the Directory of published versions
{
"resourceType" : "Observation",
"id" : "mCODEGeneticVariantFoundExample01",
"meta" : {
"profile" : [
"http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantFound"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n\t\t\t<p>\n\t\t\t\t<b>*** mCODE Example: Genetic Variant Assessment ***</b>\n\t\t\t</p>\n\t\t\t<p>\n\t\t\t\t<b>Patient identifier</b>: m123</p>\n\t\t\t<p><b>Name</b>: John B. Anyperson </p>\n\t\t\t<p>\n\t\t\t\t<b>Test date</b>: April 1, 2019</p>\n\t\t\t<p>\n\t\t\t\t<b>Genomic source class [Type]</b>: Somatic</p>\n\t\t\t<p>\n\t\t\t\t<b>Variant HGVS name</b>: NM_000455.4:c.921-1G>C</p>\n\t\t\t<p><b>Variant common name</b>: G242E</p>\n\t\t\t</div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
}
]
},
"subject" : {
"reference" : "Patient/mCODEPatientExample01",
"display" : "John B. Anyperson"
},
"effectiveDateTime" : "2019-04-01",
"method" : {
"coding" : [
{
"system" : "http://ncit.nci.nih.gov",
"code" : "C101293",
"display" : "Next Generation Sequencing"
}
]
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48002-0",
"display" : "Genomic source class [Type]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6684-0",
"display" : "Somatic"
}
],
"text" : "Somatic"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48003-8",
"display" : "DNA sequence variation identifier [Identifier]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/clinvar/",
"code" : "619728",
"display" : "NM_000455.4(STK11):c.725G>A (p.Gly242Glu)"
}
],
"text" : "NM_000455.4(STK11):c.725G>A (p.Gly242Glu)"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "82154-6",
"display" : "Genomic structural variant name"
}
]
},
"valueString" : "NM_000455.4:c.725G>A"
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "47998-0",
"display" : "DNA sequence variation display name [Text] Narrative"
}
]
},
"valueString" : "G242E"
}
]
}