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
| Draft as of 2025-10-30 |
@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:ExampleScenario ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "ClinicalAndGenomicWorkflow"] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ExampleScenario ClinicalAndGenomicWorkflow</b></p><a name=\"ClinicalAndGenomicWorkflow\"> </a><a name=\"hcClinicalAndGenomicWorkflow\"> </a><p><b>url</b>: <a href=\"ExampleScenario-ClinicalAndGenomicWorkflow.html\">Clinical And Genomic Workflow</a></p><p><b>version</b>: 0.0.8</p><p><b>name</b>: Clinical And Genomic Workflow</p><p><b>status</b>: Draft</p><p><b>date</b>: 2025-10-30 11:13:25+0000</p><p><b>publisher</b>: NHS North West Genomics</p><p><b>contact</b>: <a href=\"https://www.nwgenomics.nhs.uk/contact-us\">https://www.nwgenomics.nhs.uk/contact-us</a></p><p><b>jurisdiction</b>: <span title=\"Codes:{urn:iso:std:iso:3166 GB}\">United Kingdom of Great Britain and Northern Ireland</span></p><blockquote><p><b>actor</b></p><p><b>actorId</b>: diagnostics</p><p><b>type</b>: System</p><p><b>name</b>: Genomic Diagnostic Testing</p><p><b>description</b>: </p><div><p>TODO</p>\n</div></blockquote><blockquote><p><b>actor</b></p><p><b>actorId</b>: counsellor</p><p><b>type</b>: System</p><p><b>name</b>: Genomic counsellor</p><p><b>description</b>: </p><div><p>TODO</p>\n</div></blockquote><blockquote><p><b>actor</b></p><p><b>actorId</b>: cdr</p><p><b>type</b>: System</p><p><b>name</b>: Regional - Genomic Data Repository</p><p><b>description</b>: </p><div><p>Clinical Data Repository</p>\n</div></blockquote><blockquote><p><b>actor</b></p><p><b>actorId</b>: consultant</p><p><b>type</b>: System</p><p><b>name</b>: Consultant</p><p><b>description</b>: </p><div><p>Primary Care doctor or Secondary Care Consultant</p>\n</div></blockquote><blockquote><p><b>actor</b></p><p><b>actorId</b>: epr</p><p><b>type</b>: System</p><p><b>name</b>: Electronic Patient Record</p><p><b>description</b>: </p><div><p><a href=\"ActorDefinition-ProviderInformationSource.html\">Provider Information Source</a></p>\n</div></blockquote><blockquote><p><b>instance</b></p><p><b>resourceId</b>: Request1</p><p><b>resourceType</b>: Observation</p><p><b>name</b>: Variant</p><p><b>description</b>: </p><div><p>TODO</p>\n</div><blockquote><p><b>version</b></p><p><b>Extension Definition for ExampleScenario.instance.version.title for Version 5.0</b>: Variant NTHL1</p><p><b>Extension Definition for ExampleScenario.instance.version.content for Version 5.0</b>: <a href=\"Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html\">Observation Genetic variant assessment</a></p><p><b>versionId</b>: 1</p></blockquote></blockquote><blockquote><p><b>instance</b></p><p><b>resourceId</b>: Request2</p><p><b>resourceType</b>: Observation</p><p><b>name</b>: Diagnostic Implication</p><p><b>description</b>: </p><div><p>TODO</p>\n</div><blockquote><p><b>version</b></p><p><b>Extension Definition for ExampleScenario.instance.version.title for Version 5.0</b>: Diagnostic Implication Lynch syndrome</p><p><b>Extension Definition for ExampleScenario.instance.version.content for Version 5.0</b>: <a href=\"Observation-6beb613f-d303-42af-b025-86e8e0872061.html\">Observation Diagnostic Implication</a></p><p><b>versionId</b>: 2</p></blockquote></blockquote><blockquote><p><b>instance</b></p><p><b>resourceId</b>: Request3</p><p><b>resourceType</b>: Condition</p><p><b>name</b>: Condition</p><p><b>description</b>: </p><div><p>TODO</p>\n</div><blockquote><p><b>version</b></p><p><b>Extension Definition for ExampleScenario.instance.version.title for Version 5.0</b>: Condition Lynch syndrome</p><p><b>Extension Definition for ExampleScenario.instance.version.content for Version 5.0</b>: <a href=\"Condition-c8f82825-e4cb-4e1f-b728-3fd2808e93db.html\">Condition Lynch syndrome gene mutation detected</a></p><p><b>versionId</b>: 3</p></blockquote></blockquote><blockquote><p><b>instance</b></p><p><b>resourceId</b>: Request4</p><p><b>resourceType</b>: FamilyMemberHistory</p><p><b>name</b>: FamilyMemberHistory Son</p><p><b>description</b>: </p><div><p>TODO</p>\n</div><blockquote><p><b>version</b></p><p><b>Extension Definition for ExampleScenario.instance.version.title for Version 5.0</b>: FamilyMemberHistory Ricky LEEDS</p><p><b>Extension Definition for ExampleScenario.instance.version.content for Version 5.0</b>: <a href=\"FamilyMemberHistory-074ea905-8d91-452c-af3c-15b5b860fdb2.html\">FamilyMemberHistory: identifier = National Health Plan Identifier (use: official, ); status = completed; relationship = natural son; sex = male</a></p><p><b>versionId</b>: 4</p></blockquote></blockquote><blockquote><p><b>instance</b></p><p><b>resourceId</b>: Request5</p><p><b>resourceType</b>: FamilyMemberHistory</p><p><b>name</b>: FamilyMemberHistory Mother</p><p><b>description</b>: </p><div><p>TODO</p>\n</div><blockquote><p><b>version</b></p><p><b>Extension Definition for ExampleScenario.instance.version.title for Version 5.0</b>: FamilyMemberHistory Sarah-Jane NOTTINGHAM</p><p><b>Extension Definition for ExampleScenario.instance.version.content for Version 5.0</b>: <a href=\"FamilyMemberHistory-c76b8bc2-ec36-4ce1-a2ea-8c57215115e2.html\">FamilyMemberHistory Sarah-Jane Nottingham</a></p><p><b>versionId</b>: 5</p></blockquote></blockquote><blockquote><p><b>process</b></p><p><b>title</b>: Create Diagnostic Testing Report</p><p><b>description</b>: </p><div><p>This step creates the <a href=\"Questionnaire-GenomicTestReport.html\">Genomics Test Report</a></p>\n</div><p><b>preConditions</b>: </p><div><p>Genomic Testing has Completed</p>\n</div><blockquote><p><b>step</b></p><blockquote><p><b>operation</b></p><p><b>number</b>: 1</p><p><b>type</b>: create</p><p><b>name</b>: Variant NTHL1 is added to Genomic CDR</p><p><b>initiator</b>: diagnostics</p><p><b>receiver</b>: cdr</p><p><b>description</b>: </p><div><p>This step is performed by middleware - RIE</p>\n</div><h3>Requests</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ResourceId</b></td></tr><tr><td style=\"display: none\">*</td><td>Request1</td></tr></table></blockquote></blockquote><blockquote><p><b>step</b></p><blockquote><p><b>operation</b></p><p><b>number</b>: 2</p><p><b>type</b>: create</p><p><b>name</b>: Diagnostic Implication Lynch Syndrome is added to Genomic CDR</p><p><b>initiator</b>: diagnostics</p><p><b>receiver</b>: cdr</p><p><b>description</b>: </p><div><p>This step is performed by middleware - RIE</p>\n</div><h3>Requests</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ResourceId</b></td></tr><tr><td style=\"display: none\">*</td><td>Request2</td></tr></table></blockquote></blockquote></blockquote><blockquote><p><b>process</b></p><p><b>title</b>: Review Diagnostic Testing Report</p><p><b>description</b>: </p><div><p>This step reviews the <a href=\"Questionnaire-GenomicTestReport.html\">Genomics Test Report</a></p>\n</div><p><b>preConditions</b>: </p><div><p>Genomic Testing Received has been received</p>\n</div><blockquote><p><b>step</b></p><blockquote><p><b>operation</b></p><p><b>number</b>: 3</p><p><b>type</b>: create</p><p><b>name</b>: Condition Lynch Syndrome is added to Acute or Primary Care EPR</p><p><b>initiator</b>: consultant</p><p><b>receiver</b>: epr</p><p><b>description</b>: </p><div><p>This step is assumed to be a manual entry</p>\n</div><h3>Requests</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ResourceId</b></td></tr><tr><td style=\"display: none\">*</td><td>Request3</td></tr></table></blockquote></blockquote></blockquote><blockquote><p><b>process</b></p><p><b>title</b>: Perform Genomic Counselling</p><p><b>description</b>: </p><div><p>This step acts on the <a href=\"Questionnaire-GenomicTestReport.html\">Genomics Test Report</a></p>\n</div><p><b>preConditions</b>: </p><div><p>A Task has been received to perform Genomic Counselling</p>\n</div><blockquote><p><b>step</b></p><blockquote><p><b>operation</b></p><p><b>number</b>: 4</p><p><b>type</b>: create</p><p><b>name</b>: Family History for Son Leeds is added to Genomic CDR </p><p><b>initiator</b>: counsellor</p><p><b>receiver</b>: cdr</p><p><b>description</b>: </p><div><p>Probably Gen-O</p>\n</div><h3>Requests</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ResourceId</b></td></tr><tr><td style=\"display: none\">*</td><td>Request4</td></tr></table></blockquote></blockquote><blockquote><p><b>step</b></p><blockquote><p><b>operation</b></p><p><b>number</b>: 5</p><p><b>type</b>: create</p><p><b>name</b>: Family History for Mother Nottingham is added to Genomic CDR</p><p><b>initiator</b>: counsellor</p><p><b>receiver</b>: cdr</p><p><b>description</b>: </p><div><p>Probably Gen-O</p>\n</div><h3>Requests</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ResourceId</b></td></tr><tr><td style=\"display: none\">*</td><td>Request5</td></tr></table></blockquote></blockquote></blockquote></div>"^^rdf:XMLLiteral ]
] ; #
fhir:url [
fhir:v "https://fhir.nwgenomics.nhs.uk/ExampleScenario/ClinicalAndGenomicWorkflow"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/ExampleScenario/ClinicalAndGenomicWorkflow>
] ; #
fhir:version [ fhir:v "0.0.8"] ; #
fhir:name [ fhir:v "Clinical And Genomic Workflow"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:date [ fhir:v "2025-10-30T11:13:25+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "NHS North West Genomics"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nwgenomics.nhs.uk/contact-us" ] ] )
] ) ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166> ] ;
fhir:code [ fhir:v "GB" ] ;
fhir:display [ fhir:v "United Kingdom of Great Britain and Northern Ireland" ] ] )
] ) ; #
fhir:actor ( [
fhir:actorId [ fhir:v "diagnostics" ] ;
fhir:type [ fhir:v "entity" ] ;
fhir:name [ fhir:v "Genomic Diagnostic Testing" ] ;
fhir:description [ fhir:v "TODO" ]
] [
fhir:actorId [ fhir:v "counsellor" ] ;
fhir:type [ fhir:v "entity" ] ;
fhir:name [ fhir:v "Genomic counsellor" ] ;
fhir:description [ fhir:v "TODO" ]
] [
fhir:actorId [ fhir:v "cdr" ] ;
fhir:type [ fhir:v "entity" ] ;
fhir:name [ fhir:v "Regional - Genomic Data Repository" ] ;
fhir:description [ fhir:v " Clinical Data Repository " ]
] [
fhir:actorId [ fhir:v "consultant" ] ;
fhir:type [ fhir:v "entity" ] ;
fhir:name [ fhir:v "Consultant" ] ;
fhir:description [ fhir:v "Primary Care doctor or Secondary Care Consultant" ]
] [
fhir:actorId [ fhir:v "epr" ] ;
fhir:type [ fhir:v "entity" ] ;
fhir:name [ fhir:v "Electronic Patient Record" ] ;
fhir:description [ fhir:v " [Provider Information Source](ActorDefinition-ProviderInformationSource.html) " ]
] ) ; #
fhir:instance ( [
fhir:resourceId [ fhir:v "Request1" ] ;
fhir:resourceType [ fhir:v "Observation" ] ;
fhir:name [ fhir:v "Variant" ] ;
fhir:description [ fhir:v " TODO " ] ;
( fhir:version [
( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title> ] ;
fhir:value [
a fhir:String ;
fhir:v "Variant NTHL1" ] ] [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99 ;
fhir:reference [ fhir:v "Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99" ] ] ] ) ;
fhir:versionId [ fhir:v "1" ] ] )
] [
fhir:resourceId [ fhir:v "Request2" ] ;
fhir:resourceType [ fhir:v "Observation" ] ;
fhir:name [ fhir:v "Diagnostic Implication" ] ;
fhir:description [ fhir:v " TODO " ] ;
( fhir:version [
( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title> ] ;
fhir:value [
a fhir:String ;
fhir:v "Diagnostic Implication Lynch syndrome" ] ] [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:Observation/6beb613f-d303-42af-b025-86e8e0872061 ;
fhir:reference [ fhir:v "Observation/6beb613f-d303-42af-b025-86e8e0872061" ] ] ] ) ;
fhir:versionId [ fhir:v "2" ] ] )
] [
fhir:resourceId [ fhir:v "Request3" ] ;
fhir:resourceType [ fhir:v "Condition" ] ;
fhir:name [ fhir:v "Condition" ] ;
fhir:description [ fhir:v " TODO " ] ;
( fhir:version [
( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title> ] ;
fhir:value [
a fhir:String ;
fhir:v "Condition Lynch syndrome" ] ] [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:Condition/c8f82825-e4cb-4e1f-b728-3fd2808e93db ;
fhir:reference [ fhir:v "Condition/c8f82825-e4cb-4e1f-b728-3fd2808e93db" ] ] ] ) ;
fhir:versionId [ fhir:v "3" ] ] )
] [
fhir:resourceId [ fhir:v "Request4" ] ;
fhir:resourceType [ fhir:v "FamilyMemberHistory" ] ;
fhir:name [ fhir:v "FamilyMemberHistory Son" ] ;
fhir:description [ fhir:v " TODO " ] ;
( fhir:version [
( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title> ] ;
fhir:value [
a fhir:String ;
fhir:v "FamilyMemberHistory Ricky LEEDS" ] ] [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:FamilyMemberHistory/074ea905-8d91-452c-af3c-15b5b860fdb2 ;
fhir:reference [ fhir:v "FamilyMemberHistory/074ea905-8d91-452c-af3c-15b5b860fdb2" ] ] ] ) ;
fhir:versionId [ fhir:v "4" ] ] )
] [
fhir:resourceId [ fhir:v "Request5" ] ;
fhir:resourceType [ fhir:v "FamilyMemberHistory" ] ;
fhir:name [ fhir:v "FamilyMemberHistory Mother" ] ;
fhir:description [ fhir:v " TODO " ] ;
( fhir:version [
( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.title> ] ;
fhir:value [
a fhir:String ;
fhir:v "FamilyMemberHistory Sarah-Jane NOTTINGHAM" ] ] [
fhir:url [
fhir:v "http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/5.0/StructureDefinition/extension-ExampleScenario.instance.version.content> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:FamilyMemberHistory/c76b8bc2-ec36-4ce1-a2ea-8c57215115e2 ;
fhir:reference [ fhir:v "FamilyMemberHistory/c76b8bc2-ec36-4ce1-a2ea-8c57215115e2" ] ] ] ) ;
fhir:versionId [ fhir:v "5" ] ] )
] ) ; #
fhir:process ( [
fhir:title [ fhir:v "Create Diagnostic Testing Report" ] ;
fhir:description [ fhir:v "This step creates the [Genomics Test Report](Questionnaire-GenomicTestReport.html)" ] ;
fhir:preConditions [ fhir:v "Genomic Testing has Completed" ] ;
( fhir:step [
fhir:operation [
fhir:number [ fhir:v "1" ] ;
fhir:type [ fhir:v "create" ] ;
fhir:name [ fhir:v "Variant NTHL1 is added to Genomic CDR" ] ;
fhir:initiator [ fhir:v "diagnostics" ] ;
fhir:receiver [ fhir:v "cdr" ] ;
fhir:description [ fhir:v "This step is performed by middleware - RIE" ] ;
fhir:request [
fhir:resourceId [ fhir:v "Request1" ] ] ] ] [
fhir:operation [
fhir:number [ fhir:v "2" ] ;
fhir:type [ fhir:v "create" ] ;
fhir:name [ fhir:v "Diagnostic Implication Lynch Syndrome is added to Genomic CDR" ] ;
fhir:initiator [ fhir:v "diagnostics" ] ;
fhir:receiver [ fhir:v "cdr" ] ;
fhir:description [ fhir:v "This step is performed by middleware - RIE" ] ;
fhir:request [
fhir:resourceId [ fhir:v "Request2" ] ] ] ] )
] [
fhir:title [ fhir:v "Review Diagnostic Testing Report" ] ;
fhir:description [ fhir:v "This step reviews the [Genomics Test Report](Questionnaire-GenomicTestReport.html)" ] ;
fhir:preConditions [ fhir:v "Genomic Testing Received has been received" ] ;
( fhir:step [
fhir:operation [
fhir:number [ fhir:v "3" ] ;
fhir:type [ fhir:v "create" ] ;
fhir:name [ fhir:v "Condition Lynch Syndrome is added to Acute or Primary Care EPR" ] ;
fhir:initiator [ fhir:v "consultant" ] ;
fhir:receiver [ fhir:v "epr" ] ;
fhir:description [ fhir:v "This step is assumed to be a manual entry" ] ;
fhir:request [
fhir:resourceId [ fhir:v "Request3" ] ] ] ] )
] [
fhir:title [ fhir:v "Perform Genomic Counselling" ] ;
fhir:description [ fhir:v "This step acts on the [Genomics Test Report](Questionnaire-GenomicTestReport.html)" ] ;
fhir:preConditions [ fhir:v "A Task has been received to perform Genomic Counselling" ] ;
( fhir:step [
fhir:operation [
fhir:number [ fhir:v "4" ] ;
fhir:type [ fhir:v "create" ] ;
fhir:name [ fhir:v "Family History for Son Leeds is added to Genomic CDR " ] ;
fhir:initiator [ fhir:v "counsellor" ] ;
fhir:receiver [ fhir:v "cdr" ] ;
fhir:description [ fhir:v "Probably Gen-O" ] ;
fhir:request [
fhir:resourceId [ fhir:v "Request4" ] ] ] ] [
fhir:operation [
fhir:number [ fhir:v "5" ] ;
fhir:type [ fhir:v "create" ] ;
fhir:name [ fhir:v "Family History for Mother Nottingham is added to Genomic CDR" ] ;
fhir:initiator [ fhir:v "counsellor" ] ;
fhir:receiver [ fhir:v "cdr" ] ;
fhir:description [ fhir:v "Probably Gen-O" ] ;
fhir:request [
fhir:resourceId [ fhir:v "Request5" ] ] ] ] )
] ) . #
IG © 2024+ NHS North West Genomics. Package fhir.nwgenomics.nhs.uk#0.0.8 based on FHIR 4.0.1. Generated 2025-10-30
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