NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Composition_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Composition </b></p><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=\"http://hl7.eu/fhir/laboratory/2.0.0/StructureDefinition-Composition-eu-lab.html\">Composition: Laboratory Report</a></p></div><p><b>Document DiagnosticReport Reference</b>: <a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-2032aa8f-abea-4f1e-8bc3-8db8cffca53a\">Diagnostic Report for 'PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon' for '->Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)'</a></p><p><b>identifier</b>: <a href=\"http://terminology.hl7.org/6.5.0/NamingSystem-uri.html\" title=\"As defined by RFC 3986 (http://www.ietf.org/rfc/rfc3986.txt)(with many schemes defined in many RFCs). For OIDs and UUIDs, use the URN form (urn:oid:(note: lowercase) and urn:uuid:). See http://www.ietf.org/rfc/rfc3001.txt and http://www.ietf.org/rfc/rfc4122.txt \r\n\r\nThis oid is used as an identifier II.root to indicate the the extension is an absolute URI (technically, an IRI). Typically, this is used for OIDs and GUIDs. Note that when this OID is used with OIDs and GUIDs, the II.extension should start with urn:oid or urn:uuid: \r\n\r\nNote that this OID is created to aid with interconversion between CDA and FHIR - FHIR uses urn:ietf:rfc:3986 as equivalent to this OID. URIs as identifiers appear more commonly in FHIR.\r\n\r\nThis OID may also be used in CD.codeSystem.\">Uniform Resource Identifier (URI)</a>/urn:uuid:c557f27b-ba56-4f8a-9861-f9e3a402cdc1</p><p><b>status</b>: Final</p><p><b>type</b>: <span title=\"Codes:{http://loinc.org 11502-2}\">Laboratory report</span></p><p><b>category</b>: <span title=\"Codes:{http://loinc.org 26436-6}\">Laboratory Studies (set)</span></p><p><b>date</b>: 2026-07-14 15:59:16+0000</p><p><b>author</b>: NHS 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><p><b>title</b>: PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon - Laboratory Report and Genomic Findings</p></div>"
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"title" : "PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon - Laboratory Report and Genomic Findings",
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</b> (M4.14), requested by Leeds Teaching Hospitals NHS Trust.</p><p>Placer order number: 1234-RR8. Filler order number: T26-59X2.</p><p>Result: <b>FAILURE</b>. Reported by NHS North West Genomics, interpreted by Jonathan Edgerley.</p></div>"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><table class=\"grid\"><tr><th>Gene</th><th>DNA change (c.HGVS)</th><th>Protein change (p.HGVS)</th><th>Change type</th><th>Zygosity</th><th>Classification</th></tr><tr><td>BRCA1</td><td>NM_007294.3(BRCA1):c.68_69del</td><td>p.(Glu23ValfsTer17)</td><td>deletion</td><td>heterozygous</td><td>Pathogenic</td></tr><tr><td>FBN1</td><td>NM_000138.4(FBN1):exon13_to_exon15del</td><td>-</td><td>copy_number_variation</td><td>-</td><td>Pathogenic</td></tr><tr><td>-</td><td>-</td><td>-</td><td>copy_number_variation</td><td>-</td><td>Pathogenic</td></tr><tr><td>-</td><td>-</td><td>-</td><td>deletion</td><td>-</td><td>Pathogenic</td></tr></table></div>"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DocumentReference_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DocumentReference </b></p><p><b>identifier</b>: Filler Identifier/T26-59X2</p><p><b>status</b>: Current</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 1054161000000101}\">Genetic report</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680\">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>date</b>: 2026-07-14 15:59:16+0000</p><p><b>custodian</b>: 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><blockquote><p><b>content</b></p><h3>Attachments</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ContentType</b></td><td><b>Url</b></td></tr><tr><td style=\"display: none\">*</td><td>application/pdf</td><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4\">Binary: application/pdf (845 bytes base64)</a></td></tr></table></blockquote><h3>Contexts</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Encounter</b></td><td><b>Period</b></td><td><b>SourcePatientInfo</b></td><td><b>Related</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-8f29ff05-48f2-4f1a-a8be-7022dda2b74a\">Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)</a></td><td>2026-07-14 15:59:16+0000 --> 2026-07-14 15:59:16+0000</td><td>Identifier: Medical record number/RXR0817610</td><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-b3bdaa63-3016-4115-97a4-e89f6f9731e0\">ServiceRequest Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping)</a></td></tr></table></div>"
},
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{
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},
"content" : [
{
"attachment" : {
"contentType" : "application/pdf",
"url" : "urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4"
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}
],
"context" : {
"encounter" : [
{
"reference" : "urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a",
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"identifier" : {
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"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
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},
"value" : "SP26-01847"
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],
"period" : {
"start" : "2026-07-14T15:59:16+00:00",
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"sourcePatientInfo" : {
"identifier" : {
"type" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
"code" : "MR"
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},
"value" : "RXR0817610",
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}
}
},
"related" : [
{
"reference" : "urn:uuid:b3bdaa63-3016-4115-97a4-e89f6f9731e0",
"type" : "ServiceRequest",
"identifier" : {
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"coding" : [
{
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"value" : "1234-RR8",
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{
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"meta" : {
"profile" : [
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},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport </b></p><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\">Profiles: <a href=\"StructureDefinition-DiagnosticReport.html\">Diagnostic Report</a>, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP ctDNA_M4}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://loinc.org 51969-4}\">PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</td></tr><tr><td>Relevant Time</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Reported</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Performer</td><td> NHS 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)</td></tr><tr><td>Identifier</td><td> Filler Identifier/T26-59X2</td></tr><tr><td>Presented Form</td><td> application/pdf @ <a href=\"urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4\">urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4 <img src=\"external.png\" alt=\"icon\" style=\"vertical-align: baseline\"/></a></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></tr><tr><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-23b67e47-926e-4382-957d-74cd2d715c57\"><span title=\"Codes:{http://loinc.org 81306-3}\">Variables that apply to the overall study</span></a></td><td/><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-f866eb21-c93b-4ea6-8e79-780149b39c6e\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-2728faff-ad7c-40af-9f8d-475946d01157\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-faf18f06-de32-49e1-8fb1-a8e87df23a51\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-7f70a970-2deb-47c6-9b4d-a252bda6bdd6\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr></table><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 971}\">FAILURE</span></li></ul></div>"
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{
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"category" : [
{
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],
"code" : {
"coding" : [
{
"system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP",
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{
"system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code" : "M4.14",
"display" : "PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon"
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{
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"subject" : {
"reference" : "urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680",
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"reference" : "urn:uuid:8f29ff05-48f2-4f1a-a8be-7022dda2b74a",
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{
"display" : "Jonathan Edgerley"
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"reference" : "urn:uuid:23b67e47-926e-4382-957d-74cd2d715c57",
"type" : "Observation",
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{
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{
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"type" : "Observation"
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{
"reference" : "urn:uuid:faf18f06-de32-49e1-8fb1-a8e87df23a51",
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},
{
"reference" : "urn:uuid:7f70a970-2deb-47c6-9b4d-a252bda6bdd6",
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"coding" : [
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"contentType" : "application/pdf",
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},
{
"fullUrl" : "urn:uuid:23b67e47-926e-4382-957d-74cd2d715c57",
"resource" : {
"resourceType" : "Observation",
"meta" : {
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},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation </b></p><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>: Filler Identifier/T26-59X2</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <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-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680\">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51967-8}\">Genetic disease assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication M4}\">Non-Small Cell Lung Cancer</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51968-6}\">Discrete variation analysis overall interpretation</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode 971}\">FAILURE</span></p></blockquote></div>"
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"assigner" : {
"identifier" : {
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"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
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},
{
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{
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"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81306-3",
"display" : "Variables that apply to the overall study"
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]
},
"subject" : {
"reference" : "urn:uuid:84980fe1-25f9-43a9-bd28-3401796df680",
"identifier" : {
"type" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
"code" : "NH"
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},
"system" : "https://fhir.nhs.uk/Id/nhs-number",
"value" : "9737383222"
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"effectiveDateTime" : "2026-07-14T15:59:16+00:00",
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51967-8"
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},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"code" : "M4"
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{
"code" : {
"coding" : [
{
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"code" : "51968-6"
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},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode",
"code" : "971",
"display" : "FAILURE"
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}
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}
},
{
"fullUrl" : "urn:uuid:f866eb21-c93b-4ea6-8e79-780149b39c6e",
"resource" : {
"resourceType" : "Observation",
"id" : "f866eb21-c93b-4ea6-8e79-780149b39c6e",
"meta" : {
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"🔗 ,
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},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_f866eb21-c93b-4ea6-8e79-780149b39c6e\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation f866eb21-c93b-4ea6-8e79-780149b39c6e</b></p><a name=\"f866eb21-c93b-4ea6-8e79-780149b39c6e\"> </a><a name=\"hcf866eb21-c93b-4ea6-8e79-780149b39c6e\"> </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\">Profiles: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a>, <a href=\"StructureDefinition-Observation.html\">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-1</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <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-ctdna9737383222-eulab-document.html#urn-uuid-84980fe1-25f9-43a9-bd28-3401796df680\">Rob LEEDS Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"Bundle-ctdna9737383222-eulab-document.html#urn-uuid-223a5b16-7751-44a3-a890-ac1d6085ade5\">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">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:1100}\">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</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 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000017.10}\">NC_000017.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</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>: TCT</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: T</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://www.sequenceontology.org SO:0000159}\">deletion</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_007294.3}\">NM_007294.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_007294.3(BRCA1):c.68_69del}\">NM_007294.3(BRCA1):c.68_69del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Glu23ValfsTer17)}\">p.(Glu23ValfsTer17)</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 g.41276047_41276048del}\">g.41276047_41276048del</span></p></blockquote><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:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 41276046-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</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></div>"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_2728faff-ad7c-40af-9f8d-475946d01157\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 2728faff-ad7c-40af-9f8d-475946d01157</b></p><a name=\"2728faff-ad7c-40af-9f8d-475946d01157\"> </a><a name=\"hc2728faff-ad7c-40af-9f8d-475946d01157\"> </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\">Profiles: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a>, <a href=\"StructureDefinition-Observation.html\">Observation</a></p></div><p><b>identifier</b>: Filler Identifier/T26-59X2-2</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span 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HGNC:3603}\">FBN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</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 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000015.9}\">NC_000015.9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</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>: 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NM_000138.4(FBN1):exon13_to_exon15del}\">NM_000138.4(FBN1):exon13_to_exon15del</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 g.48797222_48802366del}\">g.48797222_48802366del</span></p></blockquote><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:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and 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