FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4b |
| Resource Type | Observation |
| Id | Observation-obs2-interact-smn1-smn2.json |
| FHIR Version | R4B |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation obs2-interact-smn1-smn2
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: A Newborn
effective: 2019-04-01
performer: Organization some lab
value: Present
method: PCR
component
code: Gene studied [ID]
value: SMN2
component
code: DNA change type
value: copy_number_variation
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic structural variant copy number
value: 2 1 (Details: UCUM code1 = '1')
component
code: Genomic reference sequence [ID]
value: NC_000005.10
component
code: Structural variant inner start and end
value: 70049523-70090528
FHIR
FHIRsmith{
"resourceType": "Observation",
"id": "obs2-interact-smn1-smn2",
"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": {
"display": "A Newborn"
},
"effectiveDateTime": "2019-04-01",
"performer": [
{
"reference": "Organization/ExampleOrg"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26418-6",
"display": "PCR"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:11118",
"display": "SMN2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.sequenceontology.org",
"code": "SO:0001019",
"display": "copy_number_variation"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6683-2",
"display": "Germline"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "82155-3"
}
]
},
"valueQuantity": {
"value": 2,
"system": "http://unitsofmeasure.org",
"code": "1"
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NC_000005.10"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81302-2"
}
]
},
"valueRange": {
"low": {
"value": 70049523
},
"high": {
"value": 70090528
}
}
}
]
}