FHIR IG analytics| Package | uk.nhsengland.genomics.r4 |
| Resource Type | Observation |
| Id | Observation-GenomicsVariantSLC52A2-Example.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
{
"resourceType": "Observation",
"id": "Observation-GenomicsVariantSLC52A2-Example",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant",
"http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
]
},
"status": "final",
"basedOn": [
{
"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
}
],
"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"
},
{
"system": "http://snomed.info/sct",
"code": "414755005",
"display": "Molecular, genetic AND/OR cellular observable"
}
]
},
"subject": {
"reference": "Patient/Patient-PheobeSmitham-Example"
},
"effectiveDateTime": "2023-09-16",
"performer": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "R0A"
}
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
},
{
"system": "http://snomed.info/sct",
"code": "52101004",
"display": "Present"
}
]
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
},
{
"system": "http://snomed.info/sct",
"code": "117040002",
"display": "Nucleic acid sequencing"
}
]
},
"specimen": {
"reference": "Specimen/Specimen-PheobeSmitham-Example"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_024531.4:c.9163>A p.(Gly306Arg)"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81290-9"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "Chr8:g.1455840683>A"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81252-9"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.sequenceontology.org",
"code": "SO:0001583",
"display": "missense_variant"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/",
"code": "HGNC:30224",
"display": "SLC52A2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53034-5"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6705-3",
"display": "homozygous"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "94186-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA4489-6",
"display": "Unknown"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6683-2",
"display": "Germline"
}
]
}
}
],
"partOf": [
{
"reference": "Procedure/Procedure-GenomicStudy-Example"
}
]
}