FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Observation |
| Id | Observation-ctdna9737383222-sv1.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation ctdna9737383222-sv1
Profile: Variant (Observation)
identifier: ctdna9737383222-sv1
status: Final
category: Genetics, Laboratory
code: Genetic variant assessment
subject: Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number: L765432)
effective: 2026-07-14 15:59:16+0000
performer: Result INTERPRETER at North West Genomics
value: Present
method: Sequencing
component
code: Variant category
value: Structural Variant
component
code: Genomic reference sequence [ID]
value: NC_000023.10
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: T
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: deletion
component
code: Genomic DNA change (gHGVS)
value: g.100652797_153792676del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Structural variant inner start and end
value: 100652796-153792676
component
code: Sample variant allelic frequency [NFr]
value: 0.33 decimal
FHIR
FHIRsmith{
"resourceType": "Observation",
"id": "ctdna9737383222-sv1",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"value": "ctdna9737383222-sv1"
}
],
"status": "final",
"category": [
{
"coding": [
{
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"code": "GE",
"display": "Genetics"
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]
},
{
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],
"code": {
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]
},
"subject": {
"reference": "Patient/Patient-Leeds"
},
"effectiveDateTime": "2026-07-14T15:59:16+00:00",
"performer": [
{
"reference": "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
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],
"valueCodeableConcept": {
"coding": [
{
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"code": "LA9633-4",
"display": "Present"
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},
"method": {
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{
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"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "83005-9",
"display": "Variant category"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory",
"code": "SV",
"display": "Structural Variant"
}
]
}
},
{
"code": {
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"code": "48013-7",
"display": "Genomic reference sequence [ID]"
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},
"valueCodeableConcept": {
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"code": "NC_000023.10"
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},
{
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"display": "Genomic coordinate system [Type]"
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"valueCodeableConcept": {
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"code": "LA30102-0",
"display": "1-based character counting"
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},
{
"code": {
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{
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"code": "69547-8",
"display": "Genomic ref allele [ID]"
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},
"valueString": "T"
},
{
"code": {
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{
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},
"valueString": "<DEL>"
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{
"code": {
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},
"valueCodeableConcept": {
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"code": "SO:0000159",
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{
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},
"valueCodeableConcept": {
"coding": [
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"code": "g.100652797_153792676del"
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},
{
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{
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"display": "Genetic variation clinical significance [Imp]"
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]
},
"valueCodeableConcept": {
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},
{
"code": {
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"code": "81302-2",
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"valueRange": {
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},
{
"code": {
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"display": "Sample variant allelic frequency [NFr]"
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"valueQuantity": {
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"unit": "decimal",
"system": "http://unitsofmeasure.org"
}
}
]
}