FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4b |
| Resource Type | Observation |
| Id | Observation-VariantExample.json |
| FHIR Version | R4B |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation VariantExample
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))
effective: 2019-04-01
performer: Organization some lab
value: Present
component
code: Genomic reference sequence [ID]
value: NC_000017.11
component
code: Ref nucleotide
value: ATTGAGGGAAAACACAT
component
code: Alt allele
value: T
component
code: Genomic allele start-end
value: 39723965-?
component
code: Genomic coord system
value: 0-based interval counting
{
"resourceType": "Observation",
"id": "VariantExample",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6"
}
]
},
"subject": {
"reference": "Patient/HG00403"
},
"effectiveDateTime": "2019-04-01",
"performer": [
{
"reference": "Organization/ExampleOrg"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7",
"display": "Genomic reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NC_000017.11"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69547-8",
"display": "Ref nucleotide"
}
]
},
"valueString": "ATTGAGGGAAAACACAT"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69551-0",
"display": "Alt allele"
}
]
},
"valueString": "T"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81254-5",
"display": "Genomic allele start-end"
}
]
},
"valueRange": {
"low": {
"value": 39723965
}
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "92822-6",
"display": "Genomic coord system"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA30100-4"
}
]
}
}
]
}