FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Observation |
| Id | Observation-a954a98c-f427-4968-9022-8b760de66628.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation a954a98c-f427-4968-9022-8b760de66628
Profile: Diagnostic Implication (Observation)
identifier: a954a98c-f427-4968-9022-8b760de66628
status: Final
category: Genetics, Laboratory
code: Diagnostic Implication
subject: Jaime LANCASTER
effective: 2025-10-23 10:37:26+0000
performer: PractitionerRole
derivedFrom: Observation Genetic variant assessment
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Associated phenotype
value: Cystic fibrosis carrier testing
{
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"meta": {
"profile": [
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]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"value": "a954a98c-f427-4968-9022-8b760de66628"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
},
{
"coding": [
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"code": "laboratory"
}
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],
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "diagnostic-implication",
"display": "Diagnostic Implication"
}
]
},
"subject": {
"reference": "Patient/Patient-Lancaster",
"display": "Jaime LANCASTER"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
"reference": "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
}
],
"derivedFrom": [
{
"reference": "Observation/bca547c1-78a5-41be-8cfc-03c05805ac85"
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],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
"display": "Pathogenic"
}
]
}
},
{
"code": {
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{
"system": "http://loinc.org",
"code": "81259-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"code": "R185",
"display": "Cystic fibrosis carrier testing"
},
{
"system": "http://snomed.info/sct",
"code": "441520002",
"display": "Carrier of cystic fibrosis gene mutation"
}
],
"text": "Cystic fibrosis carrier testing"
}
}
]
}