FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Observation |
| Id | Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99
Profile: Variant (Observation)
identifier: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99
status: Final
category: Genetics, Laboratory
code: Genetic variant assessment
subject: Ned LIVERPOOL
effective: 2025-10-23 10:37:26+0000
performer: PractitionerRole
method: Sequencing
component
code: Gene studied [ID]
value: NTHL1
component
code: Transcript reference sequence [ID]
value: NM_000249
component
code: Genomic DNA change (gHGVS)
value: NC_000003.11
component
code: Genomic reference sequence [ID]
value: NG_007109.2:g.40514dupC
component
code: DNA change type
value: Duplication
component
code: Genomic source class
value: Germline
component
code: Allelic state
value: Heterozygous
component
code: Genomic ref allele
value: C
FHIR
FHIRsmith{
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"id": "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"value": "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
}
],
"status": "final",
"category": [
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"display": "Genetics"
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"code": {
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"display": "Genetic variant assessment"
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},
"subject": {
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"display": "Ned LIVERPOOL"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
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"display": "Sequencing"
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"component": [
{
"code": {
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"code": "48018-6",
"display": "Gene studied [ID]"
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},
"valueCodeableConcept": {
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{
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"code": "HGNC:89753",
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]
}
},
{
"code": {
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"system": "http://loinc.org",
"code": "51958-7",
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},
"valueCodeableConcept": {
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{
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{
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{
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},
{
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"valueCodeableConcept": {
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{
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"valueString": "C"
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