FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting |
| Resource Type | Parameters |
| Id | Parameters-FindSubjectSpecificVariantsOutput.json |
| FHIR Version | R4 |
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FHIR
FHIRsmith{
"resourceType": "Parameters",
"id": "FindSubjectSpecificVariantsOutput",
"parameter": [
{
"name": "variants",
"part": [
{
"name": "variantItem",
"valueString": "NM_001354609.2:c.1799T>A"
},
{
"name": "presence",
"valueBoolean": false
}
]
},
{
"name": "variants",
"part": [
{
"name": "variantItem",
"valueString": "NM_007294.4:c.5559C>A"
},
{
"name": "presence",
"valueBoolean": false
}
]
},
{
"name": "variants",
"part": [
{
"name": "variantItem",
"valueString": "NM_001354609.2:c.1802="
},
{
"name": "presence",
"valueBoolean": false
}
]
},
{
"name": "variants",
"part": [
{
"name": "variantItem",
"valueString": "NC_000001.10:g.12225351T>A"
},
{
"name": "presence",
"valueBoolean": false
}
]
},
{
"name": "variants",
"part": [
{
"name": "variantItem",
"valueString": "NM_000038.6:c.55G>T"
},
{
"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": "LA6683-2",
"display": "Germline"
}
]
}
},
{
"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_000005.9"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53034-5",
"display": "Allelic state"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6706-1",
"display": "heterozygous"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69547-8",
"display": "Genomic Ref allele [ID]"
}
]
},
"valueString": "G"
},
{
"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": 112090641
}
}
}
]
}
}
]
}
]
}