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" : "mCODEGeneticVariantTestedExample01",
"meta" : {
"profile" : [
"http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantTested"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>*** mCODE Example: Genetic Mutation Test Result ***</b></p><p><b>Name</b>: John B. Anyperson </p><p><b>MRN</b>: m123 </p><p><b>Observation date</b>: 04/01/19 </p><p><b>Gene studied [ID]</b>: STK11</p><p><b>Gene variant Description</b>: NM_000455.4(STK11):c.921-1G>C </p><p><b>Gene variant presence</b>: DETECTED</p></div>"
},
"extension" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantHGVSName-extension",
"valueString" : "NM_000455.4:c.921-1G>C"
},
{
"url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantIdentifier-extension",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/",
"code" : "HGNC:11389",
"display" : "STK11"
}
]
}
},
{
"url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantDescription-extension",
"valueString" : "NM_000455.4:c.921-1G>C"
}
],
"url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantTested-extension"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory",
"display" : "Laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "41103-3",
"display" : "Gene XXX mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal"
}
]
},
"subject" : {
"reference" : "Patient/mCODEPatientExample01",
"display" : "John B. Anyperson"
},
"effectiveDateTime" : "2019-04-01",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "10828004",
"display" : "Positive (qualifier value)"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://ncit.nci.nih.gov",
"code" : "C101293",
"display" : "Next Generation Sequencing"
}
]
}
}