FHIR IG analytics| Package | hl7.fhir.us.mcode.r4b |
| Resource Type | Observation |
| Id | Observation-genomic-variant-jenny-m.json |
| FHIR Version | R4B |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation genomic-variant-jenny-m
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Jenny M Female, DoB: 1965-01-01 ( Medical Record Number: MRN1234 (use: usual, ))
effective: 2018-03-15
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: PALB2
component
code: Discrete genetic variant
value: NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)
component
code: Genomic DNA change (gHGVS)
value: NC_000016.10:g.23603471G>T
component
code: Genomic source class [Type]
value: Somatic
{
"resourceType": "Observation",
"id": "genomic-variant-jenny-m",
"meta": {
"profile": [
"http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"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/cancer-patient-jenny-m"
},
"effectiveDateTime": "2018-03-15",
"performer": [
{
"reference": "Practitioner/us-core-practitioner-owen-oncologist"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:26144",
"display": "PALB2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81252-9"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/clinvar",
"code": "128144",
"display": "NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81290-9"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NC_000016.10:g.23603471G>T"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6684-0",
"display": "Somatic"
}
]
}
}
]
}