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
<Bundle xmlns="http://hl7.org/fhir">
<id value="41a20f74-643f-4073-968a-ee003160734f"/>
<type value="searchset"/>
<total value="1"/>
<link>
<relation value="self"/>
<url
value="https://example.nhs.uk/FHIR/R4/Observation?combo-code=http://loinc.org|48018-6&combo-code-value-concept=NTHL1"/>
</link>
<entry>
<fullUrl
value="http://example.org/fhir/Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
<resource>
<Observation>
<id value="8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-Variant"/>
</meta>
<text>
<status value="generated"/>
<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>
</text>
<identifier>
<value value="8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
</identifier>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
<display value="Genetics"/>
</coding>
</category>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/Patient-Liverpool"/>
<display value="Paul LIVERPOOL"/>
</subject>
<effectiveDateTime value="2025-10-23T10:37:26+00:00"/>
<performer>🔗
<reference
value="PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"/>
</performer>
<method>
<coding>
<system value="http://loinc.org"/>
<code value="LA26398"/>
<display value="Sequencing"/>
</coding>
</method>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:89753"/>
<display value="NTHL1"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51958-7"/>
<display value="Transcript reference sequence [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/refseq"/>
<code value="NM_000249"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81290-9"/>
<display value="Genomic DNA change (gHGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="NC_000003.11"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/refseq"/>
<code value="NG_007109.2:g.40514dupC"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA change type"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Genomic ref allele"/>
</coding>
</code>
<valueString value="C"/>
</component>
</Observation>
</resource>
<search>
<mode value="match"/>
</search>
</entry>
</Bundle>
IG © 2024+ NHS North West Genomics. Package fhir.nwgenomics.nhs.uk#0.0.8 based on FHIR 4.0.1. Generated 2025-10-31
Links: Table of Contents |
QA Report
| New Issue | Issues
Version History |
|
Propose a change