FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Observation |
| Id | Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation bca547c1-78a5-41be-8cfc-03c05805ac85
Profile: Variant (Observation)
identifier: bca547c1-78a5-41be-8cfc-03c05805ac85
status: Final
category: Genetics, Laboratory
code: Genetic variant assessment
subject: Jaime LANCASTER
effective: 2025-10-23 10:37:26+0000
performer: PractitionerRole
component
code: Gene studied [ID]
value: CFTR
component
code: Transcript reference sequence [ID]
value: NM_000492.3
component
code: Genomic DNA change (gHGVS)
value: NC_000007.13
component
code: DNA change type
value: deletion
component
code: Genomic source class
value: Germline
component
code: Allelic state
value: Heterozygous
component
code: Genomic ref allele
value: CTT
FHIR
FHIRsmith{
"resourceType": "Observation",
"id": "bca547c1-78a5-41be-8cfc-03c05805ac85",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"value": "bca547c1-78a5-41be-8cfc-03c05805ac85"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
},
{
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"code": "laboratory"
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],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "Patient/Patient-Lancaster",
"display": "Jaime LANCASTER"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
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}
],
"component": [
{
"code": {
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{
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"code": "48018-6",
"display": "Gene studied [ID]"
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]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:1884",
"display": "CFTR"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51958-7",
"display": "Transcript reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_000492.3"
}
]
}
},
{
"code": {
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{
"system": "http://loinc.org",
"code": "81290-9",
"display": "Genomic DNA change (gHGVS)"
}
]
},
"valueCodeableConcept": {
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{
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"code": "NC_000007.13"
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},
{
"code": {
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{
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"code": "48019-4",
"display": "DNA change type"
}
]
},
"valueCodeableConcept": {
"coding": [
{
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"code": "LA6692-3",
"display": "deletion"
}
]
}
},
{
"code": {
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{
"system": "http://loinc.org",
"code": "48002-0",
"display": "Genomic source class"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6683-2",
"display": "Germline"
}
]
}
},
{
"code": {
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{
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"code": "53034-5",
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},
"valueCodeableConcept": {
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{
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"code": "LA6706-1",
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},
{
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"valueString": "CTT"
}
]
}