FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4b |
| Resource Type | Parameters |
| Id | Parameters-FindSubjectVariantsOutput.json |
| FHIR Version | R4B |
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FHIR
FHIRsmith{
"resourceType": "Parameters",
"id": "FindSubjectVariantsOutput",
"parameter": [
{
"name": "variants",
"part": [
{
"name": "rangeItem",
"valueString": "NC_000017.11:39688093-39728660"
},
{
"name": "presence",
"valueBoolean": false
}
]
},
{
"name": "variants",
"part": [
{
"name": "rangeItem",
"valueString": "NC_000007.14:140713327-140924929"
},
{
"name": "presence",
"valueBoolean": true
},
{
"name": "variant",
"resource": {
"resourceType": "Observation",
"id": "dv-5a7f781e83514",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"
},
"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",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "Patient/HG00403"
},
"effectiveDateTime": "2023-07-01",
"performer": [
{
"reference": "Organization/ExampleOrg"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"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"
}
]
}
},
{
"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_000007.14"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81258-6",
"display": "Sample VAF"
}
]
},
"valueQuantity": {
"value": 0.1793,
"unit": "relative frequency of a particular allele in the specimen",
"system": "http://unitsofmeasure.org",
"code": "1"
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69547-8",
"display": "Genomic Ref allele [ID]"
}
]
},
"valueString": "A"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69551-0",
"display": "Genomic Alt allele [ID]"
}
]
},
"valueString": "T"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "92822-6",
"display": "Genomic coord system"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA30100-4",
"display": "0-based interval counting"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81254-5"
}
],
"text": "Genomic allele start-end"
},
"valueRange": {
"low": {
"value": 140753335
}
}
}
]
}
}
]
}
]
}