NHS North West Genomics
2.1.4 - ci-build
NHS North West Genomics
2.1.4 - ci-build
NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Composition_Composition-GenomicsReport-LynchSyndrome"> </a><p class="res-header-id"><b>Generated Narrative: Composition Composition-GenomicsReport-LynchSyndrome</b></p><a name="Composition-GenomicsReport-LynchSyndrome"> </a><a name="hcComposition-GenomicsReport-LynchSyndrome"> </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-Composition-GenomicReport.html">Composition Genomic Report</a></p></div><p><b>identifier</b>: <code>http://www.acme.org/diagnosticreport/identifiers</code>/98763a9b-98d4-4cfc-b760-1db086ec52a1</p><p><b>status</b>: Final</p><p><b>type</b>: <span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R210.2}, {http://snomed.info/sct 1054161000000101}">Genetic report</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>encounter</b>: Identifier: <code>http://www.acme.org/encounter/identifiers/RBS</code>/66717</p><p><b>date</b>: 2024-10-13 10:33:00+0000</p><p><b>author</b>: MANCHESTER UNIVERSITY NHS FOUNDATION TRUST (Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/R0A)</p><p><b>title</b>: Composition Genomics Report Lynch Syndrome</p></div>
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<display value="Ned LIVERPOOL"/>
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<value value="RBS"/>
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<date value="2024-10-13T10:33:00+00:00"/>
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<display value="MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"/>
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<title value="Composition Genomics Report Lynch Syndrome"/>
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<title value="Findings"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Genomics Findings</li></ul></div>
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<reference value="urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"/>
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<title value="Implications"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Genomics Implications</li></ul></div>
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<Patient>
<id value="Patient-Liverpool"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Patient_Patient-Liverpool"> </a><p class="res-header-id"><b>Generated Narrative: Patient Patient-Liverpool</b></p><a name="Patient-Liverpool"> </a><a name="hcPatient-Liverpool"> </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-Patient.html">Patient</a></p></div><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Ned LIVERPOOL (official) Male, DoB: 1942-06-18 ( Medical record number)</p><hr/><table class="grid"><tr><td style="background-color: #f3f5da" title="Record is active">Active:</td><td colspan="3">true</td></tr><tr><td style="background-color: #f3f5da" title="Other Id (see the one above)">Other Id:</td><td colspan="3">National Health Plan Identifier/9737383206 (use: official, )</td></tr><tr><td style="background-color: #f3f5da" title="Ways to contact the Patient">Contact Detail</td><td colspan="3">20 Forthlin Road LIVERPOOL L18 9TN (home)</td></tr><tr><td style="background-color: #f3f5da" title="Patient contact">Contact:</td><td colspan="3"><ul><li>Ringo LIVERPOOL (Official)</li><li>ph: 077021231231(Mobile)</li></ul></td></tr><tr><td style="background-color: #f3f5da" title="Patient Links">Links:</td><td colspan="3"><ul><li>General Practitioner: MATHER AVENUE SURGERY (Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/N82035)</li></ul></td></tr></table></div>
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<system value="https://fhir.nhs.uk/Id/nhs-number"/>
<value value="9737383206"/>
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<system value="http://terminology.hl7.org/CodeSystem/v2-0203"/>
<code value="MR"/>
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<value value="A765432"/>
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<value value="RBS"/>
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<family value="LIVERPOOL"/>
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<birthDate value="1942-06-18"/>
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<line value="20 Forthlin Road"/>
<city value="LIVERPOOL"/>
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<family value="LIVERPOOL"/>
<given value="Ringo"/>
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<value value="077021231231"/>
<use value="mobile"/>
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<value value="N82035"/>
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<display value="MATHER AVENUE SURGERY"/>
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<fullUrl value="urn:uuid:c64139e7-f02d-409c-bf34-75e8bf23bc80"/>
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<DiagnosticReport>
<id value="DiagnosticReportGenomicsReportLS"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="DiagnosticReport_DiagnosticReportGenomicsReportLS"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport DiagnosticReportGenomicsReportLS</b></p><a name="DiagnosticReportGenomicsReportLS"> </a><a name="hcDiagnosticReportGenomicsReportLS"> </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">version: 1.0</p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-DiagnosticReport.html">Diagnostic Report</a></p></div><h2><span title="Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R210.2}, {http://snomed.info/sct 1054161000000101}">Genetic report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Octavia CHISLETT (official) Female, DoB: 2008-09-20 ( Medical record number)</td></tr><tr><td>Relevant Time</td><td>2023-09-07 11:45:41+0000</td></tr><tr><td>Performer</td><td> NW GLH (Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/699X0)</td></tr><tr><td>Identifier</td><td> <code>http://www.acme.org/diagnosticreport/identifiers</code>/98763a9b-98d4-4cfc-b760-1db086ec52a1</td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-6beb613f-d303-42af-b025-86e8e0872061"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-0878c5de-c22f-4e31-841a-a82ad31c93aa"><span title="Codes:{http://loinc.org 81306-3}">Variables that apply to the overall study</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr><tr><td><a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-4490c092-c78c-480a-8cb7-653b70113fd5"><span title="Codes:{http://snomed.info/sct 716318002}">Lynch syndrome</span></a></td><td/><td>Final</td><td>2025-10-23 10:37:26+0000</td></tr></table><p>Normal - no action</p></div>
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<system value="http://www.acme.org/servicerequest"/>
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<identifier>
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<value value="9737383206"/>
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<display value="Ned LIVERPOOL"/>
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<encounter>
<identifier>
<system value="http://www.acme.org/encounter/identifiers/RBS"/>
<value value="66717"/>
<assigner>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="RBS"/>
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<effectiveDateTime value="2023-09-07T11:45:41+00:00"/>
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<type value="Organization"/>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code"/>
<value value="699X0"/>
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<display value="NW GLH"/>
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<reference value="urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"/>
<type value="PractitionerRole"/>
<identifier>
<system value="https://fhir.hl7.org.uk/Id/gmc-number"/>
<value value="C1234567"/>
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<display value="FICTITIOUS, Ralph"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="PractitionerRole_59577028-8fcc-4554-8b43-988561d41d9c"> </a><p class="res-header-id"><b>Generated Narrative: PractitionerRole 59577028-8fcc-4554-8b43-988561d41d9c</b></p><a name="59577028-8fcc-4554-8b43-988561d41d9c"> </a><a name="hc59577028-8fcc-4554-8b43-988561d41d9c"> </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-PractitionerRole.html">PractitionerRole</a></p></div><p><b>practitioner</b>: Result INTERPRETER</p><p><b>organization</b>: North West Genomics (Identifier: <a href="NamingSystem-ods-organization-code-namingsystem.html" title="The identifier system for an Organisation registered with the Organisation Data Service (ODS).">ODS Organisation Code</a>/699X0)</p></div>
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<value value="699X0"/>
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<display value="North West Genomics"/>
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<fullUrl value="urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"/>
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<Observation>
<id value="6beb613f-d303-42af-b025-86e8e0872061"/>
<meta>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_6beb613f-d303-42af-b025-86e8e0872061"> </a><p class="res-header-id"><b>Generated Narrative: Observation 6beb613f-d303-42af-b025-86e8e0872061</b></p><a name="6beb613f-d303-42af-b025-86e8e0872061"> </a><a name="hc6beb613f-d303-42af-b025-86e8e0872061"> </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-DiagnosticImplication.html">Diagnostic Implication (Observation)</a></p></div><p><b>identifier</b>: 6beb613f-d303-42af-b025-86e8e0872061</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-59577028-8fcc-4554-8b43-988561d41d9c">PractitionerRole</a></p><p><b>derivedFrom</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}, {http://snomed.info/sct 716318002}">Inherited MMR deficiency (Lynch syndrome)</span></p></blockquote></div>
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<effectiveDateTime value="2025-10-23T10:37:26+00:00"/>
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<system value="http://loinc.org"/>
<code value="81259-4"/>
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<display value="Inherited MMR deficiency (Lynch syndrome)"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="716318002"/>
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<text value="Inherited MMR deficiency (Lynch syndrome)"/>
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<hasMember>🔗
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<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-Variant.html">Variant (Observation)</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></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href="Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-59577028-8fcc-4554-8b43-988561d41d9c">PractitionerRole</a></p><p><b>method</b>: <span title="Codes:{http://snomed.info/sct 264896000}">Nucleic acid analysis</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 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 [ID]</span></p><p><b>value</b>: C</p></blockquote></div>
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