This page is part of the FHIR Specification (v1.4.0: STU 3 Ballot 3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
. Page versions: R4B R4 R3
Genetics example 1
{
"resourceType": "Observation",
"id": "example-observation-genetics-1",
"text": {
"status": "generated",
"div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-observation-genetics-1</p><p><b>status</b>: final</p><p><b>code</b>: Genetic analysis master panel <span>(Details : {LOINC code '55233-1' = 'Genetic analysis master panel - Blood or Tissue by Molecular genetics method', given as 'Genetic analysis master panel'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>issued</b>: 03/04/2013 3:30:10 PM</p><p><b>performer</b>: <a>Molecular Diagnostics Laboratory</a></p><p><b>value</b>: Positive <span>(Details : {SNOMED CT code '10828004' = 'Positive (qualifier value)', given as 'Positive'})</span></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariation",
"valueString": "NG_007726.3:g.146252T>G"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "3236",
"display": "EGFR"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName",
"valueString": "Exon 21"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/LOINC-48002-0-answerlist",
"code": "LA6684-0",
"display": "somatic"
}
]
}
}
],
"status": "final",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "55233-1",
"display": "Genetic analysis master panel"
}
]
},
"subject": {
"reference": "Patient/example-genetics-somatic",
"display": "Molecular Lab Patient ID: HOSP-23456"
},
"issued": "2013-04-03T15:30:10+01:00",
"performer": [
{
"reference": "Practitioner/example-genetics-somatic",
"display": "Molecular Diagnostics Laboratory"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "10828004",
"display": "Positive"
}
]
},
"specimen": {
"reference": "Specimen/genetics-example1-somatic",
"display": "Molecular Specimen ID: MLD45-Z4-1234"
}
}
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.