NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: dWGS Sub-order - Trio (Proband)

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{
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  "id" : "dWGS-Trio-r26000000203-p26000000104",
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      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"
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  "type" : "message",
  "timestamp" : "2026-10-19T11:41:56+00:00",
  "entry" : [
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      "fullUrl" : "urn:uuid:b0edaece-711a-4104-9b97-1f1936eaf9fa",
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        "resourceType" : "MessageHeader",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MessageHeader_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MessageHeader </b></p><p><b>event</b>: <a href=\"http://terminology.hl7.org/7.5.0/CodeSystem-v2-0003.html#v2-0003-O21\">event: O21</a> (OML - Laboratory order)</p><h3>Destinations</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Endpoint</b></td><td><b>Receiver</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&amp;canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/RIE\">https://fhir.nwgenomics.nhs.uk/Endpoint/RIE</a></td><td>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></table><p><b>sender</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>/699N0</p><h3>Sources</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Software</b></td><td><b>Endpoint</b></td></tr><tr><td style=\"display: none\">*</td><td>NE&amp;Y Genomics</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&amp;canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/NEYGenomics\">https://fhir.nwgenomics.nhs.uk/Endpoint/NEYGenomics</a></td></tr></table><p><b>focus</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-74e1181c-035a-42c4-9f05-d14831a99980\">ServiceRequest Paediatric disorders (WGS)</a></p></div>"
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        "destination" : [
          {
            "endpoint" : "https://fhir.nwgenomics.nhs.uk/Endpoint/RIE",
            "receiver" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
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        "source" : {
          "software" : "NE&Y Genomics",
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      "resource" : {
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        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient </b></p><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Gilly BROUGH  (no stated gender), DoB: 1989-07-01 ( National Health Plan Identifier: NHS Number#9737383362)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Other Id (see the one above)\">Other Id:</td><td colspan=\"3\">Patient internal identifier/p26000000104</td></tr></table></div>"
        },
        "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" : "9737383362"
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        ],
        "name" : [
          {
            "family" : "BROUGH",
            "given" : [
              "Gilly"
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          }
        ],
        "birthDate" : "1989-07-01"
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    },
    {
      "fullUrl" : "urn:uuid:ace6ede5-177c-4560-a407-02e27a6545bc",
      "resource" : {
        "resourceType" : "Specimen",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen </b></p><p><b>identifier</b>: Placer Identifier/S26-1A04, Filler Identifier/S26-1A04, Shipment Tracking Number/NEY GLH 2026-08-26</p><p><b>type</b>: <span title=\"Codes:{https://gelreportmodels.genomicsengland.co.uk/CodeSystem/SampleSource BLOOD}, {http://snomed.info/sct 258580003}\">blood_unsorted_edta</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-68bc4b8d-1617-470f-888f-0ae461ad4f3d\">Gilly BROUGH  (no stated gender), DoB: 1989-07-01 ( National Health Plan Identifier: NHS Number#9737383362)</a></p><p><b>receivedTime</b>: 2026-08-20 00:00:00+0000</p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td><td><b>Quantity</b></td><td><b>Method</b></td></tr><tr><td style=\"display: none\">*</td><td>2026-08-18 00:00:00+0000</td><td>150.0 uL<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  codeuL = 'uL')</span></td><td><span title=\"Codes:{https://gelreportmodels.genomicsengland.co.uk/CodeSystem/Method UNSORTED}\">UNSORTED</span></td></tr></table><h3>Processings</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Description</b></td><td><b>Procedure</b></td></tr><tr><td style=\"display: none\">*</td><td>Storage medium</td><td><span title=\"Codes:{https://gelreportmodels.genomicsengland.co.uk/CodeSystem/StorageMedium EDTA}\">EDTA</span></td></tr></table><h3>Containers</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Identifier</b></td></tr><tr><td style=\"display: none\">*</td><td>ZCID/4000000004</td></tr></table></div>"
        },
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            },
            "value" : "S26-1A04",
            "assigner" : {
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                "value" : "RNN"
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          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "FILL"
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              ]
            },
            "value" : "S26-1A04",
            "assigner" : {
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                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "699N0"
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          },
          {
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              "coding" : [
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                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "STN"
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            },
            "value" : "NEY GLH 2026-08-26",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "699N0"
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          }
        ],
        "type" : {
          "coding" : [
            {
              "system" : "https://gelreportmodels.genomicsengland.co.uk/CodeSystem/SampleSource",
              "code" : "BLOOD"
            },
            {
              "system" : "http://snomed.info/sct",
              "code" : "258580003",
              "display" : "Whole blood specimen (specimen)"
            }
          ],
          "text" : "blood_unsorted_edta"
        },
        "subject" : {
          "reference" : "urn:uuid:68bc4b8d-1617-470f-888f-0ae461ad4f3d"
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        "receivedTime" : "2026-08-20T00:00:00+00:00",
        "collection" : {
          "collectedDateTime" : "2026-08-18T00:00:00+00:00",
          "quantity" : {
            "value" : 150.0,
            "unit" : "uL",
            "system" : "http://unitsofmeasure.org",
            "code" : "uL"
          },
          "method" : {
            "coding" : [
              {
                "system" : "https://gelreportmodels.genomicsengland.co.uk/CodeSystem/Method",
                "code" : "UNSORTED"
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        "processing" : [
          {
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            "procedure" : {
              "coding" : [
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                  "code" : "EDTA"
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        ],
        "container" : [
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            "identifier" : [
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                "type" : {
                  "coding" : [
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                      "code" : "ZCID"
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                  ]
                },
                "value" : "4000000004"
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    },
    {
      "fullUrl" : "urn:uuid:24b92d8a-e1f0-4120-a177-fd85fd0a6bc5",
      "resource" : {
        "resourceType" : "Group",
        "meta" : {
          "profile" : [
            🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyGeneticGroup"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "extensions",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Group_null\"> </a>\n  <table class=\"narrative-table\">\n    <tbody>\n<tr>\n\n\n<th colspan=\"2\" scope=\"row\" class=\"row-header\"><a name=\"metadata\"> </a>Metadata</th>\n\n\n</tr>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n  \n<tr>\n\n\n<th scope=\"row\" class=\"row-header\">Identifier</th>\n\n\n\n<td class=\"content-container\">r26000000203</td>\n\n\n</tr>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<tr>\n\n\n<th scope=\"row\" class=\"row-header\">Type</th>\n\n\n\n<td class=\"content-container\">Person</td>\n\n\n</tr>\n\n\n<tr>\n\n\n<th scope=\"row\" class=\"row-header\">Actual</th>\n\n\n\n<td class=\"content-container\">true</td>\n\n\n</tr>\n\n\n<tr>\n\n\n<th scope=\"row\" class=\"row-header\">Code</th>\n\n\n\n<td class=\"content-container\">\n    Trio\n\n\n</td>\n\n\n</tr>\n\n\n<tr>\n\n\n<th scope=\"row\" class=\"row-header\">Quantity</th>\n\n\n\n<td class=\"content-container\">3</td>\n\n\n</tr>\n\n\n\n\n<tr>\n  <th colspan=\"2\" scope=\"row\" class=\"row-header\">Generated using version 0.5.6 of the sample-content-ig Liquid templates</th>\n</tr>\n\n    </tbody>\n  </table>\n</div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "PGN"
                }
              ]
            },
            "system" : "https://fhir.nwgenomics.nhs.uk/Identifier/NGIS-ReferralIdentifier",
            "value" : "r26000000203",
            "assigner" : {
              "identifier" : {
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                "value" : "8J834"
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            }
          }
        ],
        "type" : "person",
        "actual" : true,
        "code" : {
          "coding" : [
            {
              "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
              "code" : "FamilyStructureTrio",
              "display" : "Trio"
            }
          ]
        },
        "quantity" : 3,
        "member" : [
          {
            "extension" : [
              {
                "url" : "https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship",
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                      "code" : "ONESELF",
                      "display" : "self"
                    }
                  ]
                }
              }
            ],
            "entity" : {
              "reference" : "urn:uuid:68bc4b8d-1617-470f-888f-0ae461ad4f3d",
              "type" : "Patient",
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/nhs-number",
                "value" : "9737383362"
              }
            }
          },
          {
            "extension" : [
              {
                "url" : "https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship",
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                      "code" : "FAMMEMB",
                      "display" : "family member"
                    }
                  ]
                }
              }
            ],
            "entity" : {
              "type" : "Patient",
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/nhs-number",
                "value" : "9999999581"
              },
              "display" : "p26000000105"
            }
          },
          {
            "extension" : [
              {
                "url" : "https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship",
                "valueCodeableConcept" : {
                  "coding" : [
                    {
                      "system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                      "code" : "FAMMEMB",
                      "display" : "family member"
                    }
                  ]
                }
              }
            ],
            "entity" : {
              "type" : "Patient",
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/nhs-number",
                "value" : "9999999514"
              },
              "display" : "p26000000106"
            }
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:d8573b87-4984-48e4-87f5-599509c0a5bc",
      "resource" : {
        "resourceType" : "PractitionerRole",
        "meta" : {
          "profile" : [
            🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerRole"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"PractitionerRole_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: PractitionerRole </b></p><div style=\"display: inline-block; background-color: #fbffeb; 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 style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Duty Scientist on behalf of NEYGLH Medical at Northern Genetics Service, Newcastle (NE&amp;Y Genomics)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"The practitioner who is able to provide the services in this role\">Practitioner:</td><td colspan=\"3\">Duty Scientist on behalf of NEYGLH Medical</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"The organization where the practitioner performs the roles\">Organization:</td><td colspan=\"3\">Northern Genetics Service, Newcastle (NE&amp;Y 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>/699N0)</td></tr></table></div>"
        },
        "practitioner" : {
          "display" : "Duty Scientist on behalf of NEYGLH Medical"
        },
        "organization" : {
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "699N0"
          },
          "display" : "Northern Genetics Service, Newcastle (NE&Y Genomics)"
        }
      }
    },
    {
      "fullUrl" : "urn:uuid:74e1181c-035a-42c4-9f05-d14831a99980",
      "resource" : {
        "resourceType" : "ServiceRequest",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest </b></p><p><b>identifier</b>: Placer Identifier/4000000004</p><p><b>requisition</b>: Placer Group Number/r26000000203</p><p><b>status</b>: Active</p><p><b>intent</b>: Filler Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 116148004}\">Molecular genetics procedure</span></p><p><b>code</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory R27.3}\">Paediatric disorders (WGS)</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-68bc4b8d-1617-470f-888f-0ae461ad4f3d\">Gilly BROUGH  (no stated gender), DoB: 1989-07-01 ( National Health Plan Identifier: NHS Number#9737383362)</a></p><p><b>requester</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-d8573b87-4984-48e4-87f5-599509c0a5bc\">Duty Scientist on behalf of NEYGLH Medical at Northern Genetics Service, Newcastle (NE&amp;Y Genomics)</a></p><p><b>supportingInfo</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-24b92d8a-e1f0-4120-a177-fd85fd0a6bc5\">?title?</a></p><p><b>specimen</b>: <a href=\"Bundle-dWGS-Trio-r26000000203-p26000000104.html#urn-uuid-ace6ede5-177c-4560-a407-02e27a6545bc\">Specimen: identifier = Placer Identifier: S26-1A04,Filler Identifier: S26-1A04,Shipment Tracking Number: NEY GLH 2026-08-26; type = blood_unsorted_edta; receivedTime = 2026-08-20 00:00:00+0000</a></p><p><b>note</b>: </p><blockquote><div><p>Patient has intellectual disability</p>\n</div></blockquote></div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "PLAC"
                }
              ]
            },
            "value" : "4000000004",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "699N0"
              }
            }
          }
        ],
        "requisition" : {
          "type" : {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                "code" : "PGN"
              }
            ]
          },
          "system" : "https://fhir.nwgenomics.nhs.uk/Identifier/NGIS-ReferralIdentifier",
          "value" : "r26000000203",
          "assigner" : {
            "identifier" : {
              "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
              "value" : "8J834"
            }
          }
        },
        "status" : "active",
        "intent" : "filler-order",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "116148004"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
              "code" : "R27.3"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:68bc4b8d-1617-470f-888f-0ae461ad4f3d"
        },
        "requester" : {
          "reference" : "urn:uuid:d8573b87-4984-48e4-87f5-599509c0a5bc",
          "type" : "PractitionerRole"
        },
        "supportingInfo" : [
          {
            "reference" : "urn:uuid:24b92d8a-e1f0-4120-a177-fd85fd0a6bc5",
            "type" : "Group"
          }
        ],
        "specimen" : [
          {
            "reference" : "urn:uuid:ace6ede5-177c-4560-a407-02e27a6545bc",
            "type" : "Specimen"
          }
        ],
        "note" : [
          {
            "text" : "Patient has intellectual disability"
          }
        ]
      }
    }
  ]
}