NHS North West Genomics
0.0.8 - ci-build
NHS North West Genomics
0.0.8 - ci-build
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
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"url" : "https://example.nhs.uk/FHIR/R4/Observation?code=http://loinc.org|69548-6&patient=Patient-Liverpool"
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"fullUrl" : "http://example.org/fhir/Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
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"id" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
"meta" : {
"profile" : [
🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-Variant"
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</b></p><a name=\"8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><a name=\"hc8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-Variant.html\">Observation Variant</a></p></div><p><b>identifier</b>: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-Patient-Liverpool.html\">Paul LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:89753}\">NTHL1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000249}\">NM_000249</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000003.11}\">NC_000003.11</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NG_007109.2:g.40514dupC}\">NG_007109.2:g.40514dupC</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6686-5}\">Duplication</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele</span></p><p><b>value</b>: C</p></blockquote></div>"
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"value" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
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"status" : "final",
"category" : [
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"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE",
"display" : "Genetics"
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"coding" : [
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"code" : "laboratory"
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"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
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"subject" : {
🔗 "reference" : "Patient/Patient-Liverpool",
"display" : "Paul LIVERPOOL"
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"effectiveDateTime" : "2025-10-23T10:37:26+00:00",
"performer" : [
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🔗 "reference" : "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
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"code" : "51958-7",
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"valueCodeableConcept" : {
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"system" : "http://www.ncbi.nlm.nih.gov/refseq",
"code" : "NM_000249"
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{
"code" : {
"coding" : [
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"code" : "81290-9",
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"system" : "http://loinc.org",
"code" : "LA6686-5",
"display" : "Duplication"
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"code" : "48002-0",
"display" : "Genomic source class"
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"code" : "LA6683-2",
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"coding" : [
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"system" : "http://loinc.org",
"code" : "53034-5",
"display" : "Allelic state"
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"display" : "Genomic ref allele"
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IG © 2024+ NHS North West Genomics. Package fhir.nwgenomics.nhs.uk#0.0.8 based on FHIR 4.0.1. Generated 2025-10-31
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