FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Bundle |
| Id | Bundle-FHIRDocumentGeneticReportBundle2.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "Bundle",
"id": "FHIRDocumentGeneticReportBundle2",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleDocument"
]
},
"identifier": {
"system": "urn:oid:2.16.724.4.8.10.200.10",
"value": "e51f87e6-f43f-4c7a-b475-23b784e2b852"
},
"type": "document",
"timestamp": "2024-10-13T10:33:00+00:00",
"entry": [
{
"fullUrl": "urn:uuid:c55a7dc6-9b29-4cd6-ab8f-9aea594aabde",
"resource": {
"resourceType": "Composition",
"id": "Composition-GenomicsReport-LynchSyndrome",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Composition-GenomicReport"
]
},
"text": {
"status": "generated",
"div": "<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>"
},
"identifier": {
"system": "http://www.acme.org/diagnosticreport/identifiers",
"value": "98763a9b-98d4-4cfc-b760-1db086ec52a1",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
},
"status": "final",
"type": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "R210.2"
},
{
"system": "http://snomed.info/sct",
"code": "1054161000000101",
"display": "Genetic report"
}
]
},
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"display": "Ned LIVERPOOL"
},
"encounter": {
"identifier": {
"system": "http://www.acme.org/encounter/identifiers/RBS",
"value": "66717",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RBS"
}
}
}
},
"date": "2024-10-13T10:33:00+00:00",
"author": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "R0A"
},
"display": "MANCHESTER UNIVERSITY NHS FOUNDATION TRUST"
}
],
"title": "Composition Genomics Report Lynch Syndrome",
"section": [
{
"title": "Findings",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "59776-5",
"display": "Findings"
}
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Findings</li></ul></div>"
},
"entry": [
{
"reference": "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
},
{
"reference": "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5"
}
]
},
{
"title": "Implications",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "59768-2",
"display": "Procedure indications Imp"
}
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Genomics Implications</li></ul></div>"
},
"entry": [
{
"reference": "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"
},
{
"reference": "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa"
}
]
}
]
}
},
{
"fullUrl": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"resource": {
"resourceType": "Patient",
"id": "Patient-Liverpool",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Patient"
]
},
"text": {
"status": "generated",
"div": "<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>"
},
"identifier": [
{
"use": "official",
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "NH"
}
]
},
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737383206"
},
{
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "MR"
}
]
},
"value": "A765432",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RBS"
}
}
}
],
"active": true,
"name": [
{
"use": "official",
"family": "LIVERPOOL",
"given": [
"Ned"
]
}
],
"gender": "male",
"birthDate": "1942-06-18",
"address": [
{
"use": "home",
"type": "both",
"line": [
"20 Forthlin Road"
],
"city": "LIVERPOOL",
"postalCode": "L18 9TN"
}
],
"contact": [
{
"name": {
"use": "official",
"family": "LIVERPOOL",
"given": [
"Ringo"
]
},
"telecom": [
{
"system": "phone",
"value": "077021231231",
"use": "mobile"
}
]
}
],
"generalPractitioner": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "N82035"
},
"display": "MATHER AVENUE SURGERY"
}
]
}
},
{
"fullUrl": "urn:uuid:c64139e7-f02d-409c-bf34-75e8bf23bc80",
"resource": {
"resourceType": "DiagnosticReport",
"id": "DiagnosticReportGenomicsReportLS",
"meta": {
"versionId": "1.0",
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"
]
},
"text": {
"status": "generated",
"div": "<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>"
},
"extension": [
{
"url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.composition",
"valueReference": {
"reference": "urn:uuid:c55a7dc6-9b29-4cd6-ab8f-9aea594aabde"
}
}
],
"identifier": [
{
"system": "http://www.acme.org/diagnosticreport/identifiers",
"value": "98763a9b-98d4-4cfc-b760-1db086ec52a1",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
],
"basedOn": [
{
"type": "ServiceRequest",
"identifier": {
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "PLAC"
}
]
},
"system": "http://www.acme.org/servicerequest",
"value": "66717",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
}
}
}
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "R210.2"
},
{
"system": "http://snomed.info/sct",
"code": "1054161000000101",
"display": "Genetic report"
}
]
},
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9737383206"
},
"display": "Ned LIVERPOOL"
},
"encounter": {
"identifier": {
"system": "http://www.acme.org/encounter/identifiers/RBS",
"value": "66717",
"assigner": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "RBS"
}
}
}
},
"effectiveDateTime": "2023-09-07T11:45:41+00:00",
"performer": [
{
"type": "Organization",
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
},
"display": "NW GLH"
}
],
"resultsInterpreter": [
{
"reference": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c",
"type": "PractitionerRole",
"identifier": {
"system": "https://fhir.hl7.org.uk/Id/gmc-number",
"value": "C1234567"
},
"display": "FICTITIOUS, Ralph"
}
],
"result": [
{
"reference": "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061"
},
{
"reference": "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa"
},
{
"reference": "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
},
{
"reference": "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5"
}
],
"conclusion": "Normal - no action"
}
},
{
"fullUrl": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c",
"resource": {
"resourceType": "PractitionerRole",
"id": "59577028-8fcc-4554-8b43-988561d41d9c",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerRole"
]
},
"text": {
"status": "generated",
"div": "<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>"
},
"practitioner": {
"display": "Result INTERPRETER"
},
"organization": {
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "699X0"
},
"display": "North West Genomics"
}
}
},
{
"fullUrl": "urn:uuid:6beb613f-d303-42af-b025-86e8e0872061",
"resource": {
"resourceType": "Observation",
"id": "6beb613f-d303-42af-b025-86e8e0872061",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticImplication"
]
},
"text": {
"status": "generated",
"div": "<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>"
},
"identifier": [
{
"value": "6beb613f-d303-42af-b025-86e8e0872061"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "diagnostic-implication",
"display": "Diagnostic Implication"
}
]
},
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"display": "Ned LIVERPOOL"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
"reference": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
}
],
"derivedFrom": [
{
"reference": "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
"display": "Pathogenic"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81259-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"code": "R210",
"display": "Inherited MMR deficiency (Lynch syndrome)"
},
{
"system": "http://snomed.info/sct",
"code": "716318002",
"display": "Lynch syndrome"
}
],
"text": "Inherited MMR deficiency (Lynch syndrome)"
}
}
]
}
},
{
"fullUrl": "urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa",
"resource": {
"resourceType": "Observation",
"id": "0878c5de-c22f-4e31-841a-a82ad31c93aa",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 0878c5de-c22f-4e31-841a-a82ad31c93aa</b></p><a name=\"0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </a><a name=\"hc0878c5de-c22f-4e31-841a-a82ad31c93aa\"> </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-GenomicStudyPanel.html\">Genomic Study Panel</a></p></div><p><b>identifier</b>: 0878c5de-c22f-4e31-841a-a82ad31c93aa</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 81306-3}\">Variables that apply to the overall study</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><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 51967-8}\">Genetic disease assessed [ID]</span></td><td><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R210}\">Inherited MMR deficiency (Lynch syndrome)</span></td></tr></table></div>"
},
"identifier": [
{
"value": "0878c5de-c22f-4e31-841a-a82ad31c93aa"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81306-3",
"display": "Variables that apply to the overall study"
}
]
},
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"display": "Ned LIVERPOOL"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
"reference": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51967-8",
"display": "Genetic disease assessed [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"code": "R210",
"display": "Inherited MMR deficiency (Lynch syndrome)"
}
]
}
}
]
}
},
{
"fullUrl": "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
"resource": {
"resourceType": "Observation",
"id": "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"
]
},
"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-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>"
},
"identifier": [
{
"value": "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"display": "Ned LIVERPOOL"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
"reference": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
}
],
"method": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "264896000",
"display": "Nucleic acid analysis"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:89753",
"display": "NTHL1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51958-7",
"display": "Transcript reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_000249"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7",
"display": "Genomic reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NG_007109.2:g.40514dupC"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4",
"display": "DNA change type"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6686-5",
"display": "Duplication"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0",
"display": "Genomic source class"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6683-2",
"display": "Germline"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53034-5",
"display": "Allelic state"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6706-1",
"display": "Heterozygous"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69547-8",
"display": "Genomic ref allele [ID]"
}
]
},
"valueString": "C"
}
]
}
},
{
"fullUrl": "urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5",
"resource": {
"resourceType": "Observation",
"id": "4490c092-c78c-480a-8cb7-653b70113fd5",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_4490c092-c78c-480a-8cb7-653b70113fd5\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 4490c092-c78c-480a-8cb7-653b70113fd5</b></p><a name=\"4490c092-c78c-480a-8cb7-653b70113fd5\"> </a><a name=\"hc4490c092-c78c-480a-8cb7-653b70113fd5\"> </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.html\">Observation</a></p></div><p><b>identifier</b>: 4490c092-c78c-480a-8cb7-653b70113fd5</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://snomed.info/sct 716318002}\">Lynch syndrome</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></div>"
},
"identifier": [
{
"value": "4490c092-c78c-480a-8cb7-653b70113fd5"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "716318002",
"display": "Lynch syndrome"
}
]
},
"subject": {
"reference": "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"display": "Ned LIVERPOOL"
},
"effectiveDateTime": "2025-10-23T10:37:26+00:00",
"performer": [
{
"reference": "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
}
],
"derivedFrom": [
{
"reference": "urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
}
]
}
}
]
}