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FHIR IG Statistics: Questionnaire/GenomicTestOrder

Packagenw-gmsa.github.io
Resource TypeQuestionnaire
IdGenomicTestOrder
FHIR VersionR4
Sourcehttps://nw-gmsa.github.io/https://build.fhir.org/ig/nw-gmsa/R4/Questionnaire-GenomicTestOrder.html
URLhttps://nw-gmsa.github.io/Questionnaire/GenomicTestOrder
Version0.0.7
Statusdraft
Date2025-08-12T13:52:16+00:00
TitleNorth West Genomics Test Order
Realmuk
DescriptionThe aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.

Resources that use this resource

No resources found


Resources that this resource uses

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Questionnaire GenomicTestOrder

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.Questionnairehttps://nw-gmsa.github.io/Questionnaire/GenomicTestOrder#0.0.7
... PatientPatient0..1groupDefinition: Patient
.... LN/45394-4Patient surname1..1stringDefinition: Patient.name.family
.... LN/45392-8Patient first name1..1stringDefinition: Patient.name.given
.... LN/21112-8Date of birth1..1dateDefinition: Patient.birthDate
.... LN/81954-0Date of death0..1dateDefinition: Patient.deceasedDateTime
.... LN/56799-0Address0..1groupDefinition: Patient.address
..... HL7/PID-11-1Address Line0..*stringDefinition: Patient.address.line
..... HL7/PID-11-3City0..1stringDefinition: Patient.address.city
..... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
.... LN/46098-0Sex registered at birth0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9Ethnic Category0..1choiceDefinition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6NHS Number0..1stringDefinition: Patient.identifier:nhsNumber
.... LN/76435-7Hospital Number (Medical Record Number)1..1stringDefinition: Patient.identifier:MedicalRecordNumber
.... LN/56797-4Account Number (Episode or Stay Number)0..1stringDefinition: ServiceRequest.encounter.identifier.value
..... LN/56797-4-designNotePV1-19 (also known as stay number)0..1display
.... ageAtCollectionAge at collection (ignore for FHIR)0..1decimal
.... LN/89009-5Location0..1stringDefinition: Encounter.location
.... HL7/PD1-3GP Surgery (ODS Code)0..1choiceDefinition: Patient.generalPractitioner
... HealthcareProfessionalHealthcare Professional0..1groupDefinition: PractitionerRole
.... LN/18705-4Referring Clinician Name1..1stringDefinition: PractitionerRole.practitioner.display
.... LN/18707-0Referring Clinician Current Speciality1..1choiceDefinition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/46608-6Referring Clinician Professional Identifier1..1stringDefinition: PractitionerRole.practitioner.identifier.value
.... LN/89058-2Email0..*stringDefinition: PractitionerRole.telecom.value
.... LN/81230-5Phone0..1stringDefinition: PractitionerRole.telecom.value
.... HL7/ORC-21Referring Organisation ODS Code0..1stringDefinition: PractitionerRole.organization.identifier.value
... TestRequestTest Request0..1groupDefinition: ServiceRequest
.... SNM/15220000Test Category0..1choiceDefinition: ServiceRequest.category
Value Set: Order Category
.... HL7/OBR-4-rTest Code (Rare and inherited diseases)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Value Set: Genomic Rare and Inherited Disease Test Directory
.... HL7/OBR-4-hTest Code (Haemoglobinopathy)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Options: 5 options
.... HL7/OBR-4-cTest Code (Cancer)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Value Set: Genomic Cancer Test Directory
.... pedigreeNumberG Number (Pedigree Number) - Order Group Number0..1stringDefinition: ServiceRequest.requisition
.... LN/106194-4Test request ID/Order ID0..1stringDefinition: ServiceRequest.identifier:placerOrderNumber
.... LN/82768-3Priority0..1choiceDefinition: ServiceRequest.priority
Value Set: Request Priority
.... NOS/GeneticistEmailClinical Geneticist email0..1stringDefinition: Observation.valueString
.... NOS/GeneticistDepartmentEmailClinical Geneticist department email0..1stringDefinition: Observation.valueString
.... ConsentConsent0..1group
..... LN/19826-7Has consent has been obtained for tests (Y/N)0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
..... LN/75520-7Has consent has been obtained for DNA storage (Y/N)0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
..... NOS/RODToFollowROD attached or to follow0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
.... PatientClinicalInformationPatient Clinical Information0..1group
..... LN/51967-8CITT code (Specific disease suspected/reason for testing)0..*choiceDefinition: ServiceRequest.reasonCode
Value Set: Genomic Condition Codes
..... HL7/NTE-1Relevant clinical information and family history0..1stringDefinition: ServiceRequest.note
..... HL7/NTE-2Reason For Variant Re-Interpretation Request0..1stringDefinition: ServiceRequest.note
... SpecimenSpecimen/Biopsy0..1groupDefinition: Specimen
.... HL7/SPMSample collection status0..1choiceDefinition: Specimen.status
Value Set: SpecimenStatus
.... LN/80398-1Specimen ID Number0..1stringDefinition: Specimen.identifier
..... LN/80398-1-designNoteORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-20..1display
.... Specimen/accessionIdentifierLab DNA Number (If Known)0..1stringDefinition: Specimen.accessionIdentifier
.... LN/80398-1-ODSPathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)0..1stringDefinition: Specimen.accessionIdentifier.assigner.identifier.value
.... LN/33882-2Specimen Collection Date0..1dateTimeDefinition: Specimen.collection.collectedDateTime
..... LN/33882-2-designNoteORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-170..1display
.... LN/66746-9Specimen Type0..1choiceDefinition: Specimen.type.coding.code
Value Set: Specimen Type
..... LN/66746-9-designNoteORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-40..1display
.... SNM/281269004High Infection Risk?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
.... NOS/InfectionRiskDetailsHigh infection Risk Details0..1stringDefinition: Observation.valueString
.... LN/74384-9Anticoagulant/preservative?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
.... LN/39111-0Tissue source/organ of origin0..1choiceDefinition: Specimen.collection.bodySite
.... LN/3169-0Specimen Volume/number of slides or scrolls0..1stringDefinition: Specimen.collection.quantity
.... OrderTrackingAudit (Specimen Tracking)0..1groupDefinition: Specimen.collection
..... NOS/SampleReceivedDate and time sample received in lab0..1dateDefinition: Specimen.receivedTime
..... NOS/SampleSentDate and time sample sent0..1dateDefinition: Observation.valueDateTime
..... NOS/TransportUsedTransport used0..1stringDefinition: Observation.valueString
..... LN/97209-1Tracking number0..1stringDefinition: Observation.valueString
..... NOS/SampleSentToSample sent to0..1stringDefinition: Observation.valueString
..... NOS/SampleSentToNameName of person who sent sample0..1stringDefinition: Observation.valueString
... AskAtOrderEntryAsk At Order Entry Questions0..1group
.... SNM/842009Patient is from consanguineous union?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
.... SNM/74996004-pathology-reportConfirm that a pathology report will be provided alongside the sample.0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
.... SNM/118185001Neonatal/Prenatal/Neither?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
..... pregnantPregnant0..1groupEnable When: SNM/118185001 =
...... SNM/370386005Does this test relate to a pregnancy with > 1 fetus?0..1stringDefinition: Observation.valueCodeableConcept
Options: 3 options
...... SNM/161714006Patient expected delivery date0..1dateDefinition: Observation.valueDateTime
...... SNM/598151000005105Patient gestation0..1integerDefinition: Observation.valueQuantity
.... SNM/17369002Is this test for a pregnancy loss?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
.... SNM/419099009Is this test for a deceased infant?0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
... PriorResultsPrior Results0..1group

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h

  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.1 ("Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.2 ("Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R372.1 ("Newborn screening for sickle cell disease in a transfused baby")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.1 ("Sickle cell, thalassaemia and other haemoglobinopathies")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.2 ("Sickle cell, thalassaemia and other haemoglobinopathies")

Answer options for LN/19826-7

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for LN/75520-7

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for NOS/RODToFollow

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/281269004

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for LN/74384-9

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for SNM/842009

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/74996004-pathology-report

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/118185001

  • http://snomed.info/sct#77386006 ("Pregnancy")
  • http://snomed.info/sct#255407002 ("Neonatal")
  • http://loinc.org#LA32-8 ("No")

Answer options for SNM/370386005

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/17369002

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/419099009

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Source

{
  "resourceType": "Questionnaire",
  "id": "GenomicTestOrder",
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://nw-gmsa.github.io/Questionnaire/GenomicTestOrder",
  "version": "0.0.7",
  "title": "North West Genomics Test Order",
  "status": "draft",
  "date": "2025-08-12T13:52:16+00:00",
  "publisher": "NHS North West GMSA",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.nw-gmsa.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description": "The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "GB",
          "display": "United Kingdom of Great Britain and Northern Ireland"
        }
      ]
    }
  ],
  "item": [
    {
      "linkId": "Patient",
      "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient",
      "text": "Patient",
      "type": "group",
      "item": [
        {
          "linkId": "LN/45394-4",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.name.family",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "45394-4"
            }
          ],
          "text": "Patient surname",
          "type": "string",
          "required": true
        },
        {
          "linkId": "LN/45392-8",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.name.given",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "45392-8"
            }
          ],
          "text": "Patient first name",
          "type": "string",
          "required": true
        },
        {
          "linkId": "LN/21112-8",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.birthDate",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "21112-8"
            }
          ],
          "text": "Date of birth",
          "type": "date",
          "required": true
        },
        {
          "linkId": "LN/81954-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.deceasedDateTime",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "81954-0"
            }
          ],
          "text": "Date of death",
          "type": "date",
          "required": false
        },
        {
          "linkId": "LN/56799-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.address",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "56799-0"
            }
          ],
          "text": "Address",
          "type": "group",
          "item": [
            {
              "linkId": "HL7/PID-11-1",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.address.line",
              "text": "Address Line",
              "type": "string",
              "repeats": true
            },
            {
              "linkId": "HL7/PID-11-3",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.address.city",
              "text": "City",
              "type": "string"
            },
            {
              "linkId": "LN/45401-7",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.address.postalCode",
              "code": [
                {
                  "system": "http://loinc.org",
                  "code": "45401-7"
                }
              ],
              "text": "Postcode",
              "type": "string"
            }
          ]
        },
        {
          "linkId": "LN/46098-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.gender",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "46098-0"
            }
          ],
          "text": "Sex registered at birth",
          "type": "choice",
          "answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
        },
        {
          "linkId": "LN/32624-9",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.extension:ethnicCategory",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "32624-9"
            }
          ],
          "text": "Ethnic Category",
          "type": "choice",
          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/ethnicity"
        },
        {
          "linkId": "LN/89061-6",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.identifier:nhsNumber",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "89061-6"
            }
          ],
          "text": "NHS Number",
          "type": "string"
        },
        {
          "linkId": "LN/76435-7",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "76435-7"
            }
          ],
          "text": "Hospital Number (Medical Record Number)",
          "type": "string",
          "required": true
        },
        {
          "linkId": "LN/56797-4",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.encounter.identifier.value",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "56797-4"
            }
          ],
          "text": "Account Number (Episode or Stay Number)",
          "type": "string",
          "required": false,
          "item": [
            {
              "extension": [
                {
                  "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
                  "valueCodeableConcept": {
                    "coding": [
                      {
                        "system": "http://hl7.org/fhir/questionnaire-item-control",
                        "code": "help"
                      }
                    ]
                  }
                }
              ],
              "linkId": "LN/56797-4-designNote",
              "text": "PV1-19 (also known as stay number)",
              "type": "display"
            }
          ]
        },
        {
          "linkId": "ageAtCollection",
          "text": "Age at collection (ignore for FHIR)",
          "type": "decimal"
        },
        {
          "linkId": "LN/89009-5",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Encounter#Encounter.location",
          "text": "Location",
          "type": "string"
        },
        {
          "linkId": "HL7/PD1-3",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Patient#Patient.generalPractitioner",
          "text": "GP Surgery (ODS Code)",
          "type": "choice"
        }
      ]
    },
    {
      "linkId": "HealthcareProfessional",
      "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole",
      "text": "Healthcare Professional",
      "type": "group",
      "item": [
        {
          "linkId": "LN/18705-4",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.display",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "18705-4"
            }
          ],
          "text": "Referring Clinician Name",
          "type": "string",
          "required": true
        },
        {
          "linkId": "LN/18707-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "18707-0"
            }
          ],
          "text": "Referring Clinician Current Speciality",
          "type": "choice",
          "required": true,
          "answerValueSet": "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode"
        },
        {
          "linkId": "LN/46608-6",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.identifier.value",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "46608-6"
            }
          ],
          "text": "Referring Clinician Professional Identifier",
          "type": "string",
          "required": true
        },
        {
          "linkId": "LN/89058-2",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "89058-2",
              "display": "Contact email address"
            }
          ],
          "text": "Email",
          "type": "string",
          "repeats": true
        },
        {
          "linkId": "LN/81230-5",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "81230-5"
            }
          ],
          "text": "Phone",
          "type": "string"
        },
        {
          "linkId": "HL7/ORC-21",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value",
          "text": "Referring Organisation ODS Code",
          "type": "string"
        }
      ]
    },
    {
      "linkId": "TestRequest",
      "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest",
      "text": "Test Request",
      "type": "group",
      "item": [
        {
          "linkId": "SNM/15220000",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.category",
          "code": [
            {
              "system": "http://snomed.info/sct",
              "code": "15220000",
              "display": "Laboratory test"
            }
          ],
          "text": "Test Category",
          "type": "choice",
          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/order-category"
        },
        {
          "linkId": "HL7/OBR-4-r",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.code",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "29300-1"
            }
          ],
          "text": "Test Code (Rare and inherited diseases)",
          "type": "choice",
          "enableWhen": [
            {
              "question": "SNM/15220000",
              "operator": "=",
              "answerCoding": {
                "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                "code": "RareAndInheritedDiseasesGeneticTesting"
              }
            }
          ],
          "required": true,
          "repeats": true,
          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/GenomicRareAndInheritedDisease"
        },
        {
          "linkId": "HL7/OBR-4-h",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.code",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "29300-1"
            }
          ],
          "text": "Test Code (Haemoglobinopathy)",
          "type": "choice",
          "enableWhen": [
            {
              "question": "SNM/15220000",
              "operator": "=",
              "answerCoding": {
                "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                "code": "HaemoglobinopathyGeneticTesting"
              }
            }
          ],
          "required": true,
          "repeats": true,
          "answerOption": [
            {
              "valueCoding": {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R361.1",
                "display": "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
              }
            },
            {
              "valueCoding": {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R361.2",
                "display": "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
              }
            },
            {
              "valueCoding": {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R372.1",
                "display": "Newborn screening for sickle cell disease in a transfused baby"
              }
            },
            {
              "valueCoding": {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R93.1",
                "display": "Sickle cell, thalassaemia and other haemoglobinopathies"
              }
            },
            {
              "valueCoding": {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R93.2",
                "display": "Sickle cell, thalassaemia and other haemoglobinopathies"
              }
            }
          ]
        },
        {
          "linkId": "HL7/OBR-4-c",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.code",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "29300-1"
            }
          ],
          "text": "Test Code (Cancer)",
          "type": "choice",
          "enableWhen": [
            {
              "question": "SNM/15220000",
              "operator": "=",
              "answerCoding": {
                "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                "code": "CancerGeneticTesting"
              }
            }
          ],
          "required": true,
          "repeats": true,
          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/GenomicCancer"
        },
        {
          "linkId": "pedigreeNumber",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.requisition",
          "text": "G Number (Pedigree Number) - Order Group Number",
          "type": "string"
        },
        {
          "linkId": "LN/106194-4",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.identifier:placerOrderNumber",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "106194-4"
            }
          ],
          "text": "Test request ID/Order ID",
          "type": "string",
          "required": false
        },
        {
          "linkId": "LN/82768-3",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.priority",
          "code": [
            {
              "system": "http://loinc.org",
              "code": "82768-3"
            }
          ],
          "text": "Priority",
          "type": "choice",
          "required": false,
          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/RequestPriority"
        },
        {
          "linkId": "NOS/GeneticistEmail",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
          "code": [
            {
              "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
              "code": "GeneticistEmail"
            }
          ],
          "text": "Clinical Geneticist email",
          "type": "string"
        },
        {
          "linkId": "NOS/GeneticistDepartmentEmail",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
          "code": [
            {
              "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
              "code": "GeneticistDepartmentEmail"
            }
          ],
          "text": "Clinical Geneticist department email",
          "type": "string"
        },
        {
          "linkId": "Consent",
          "text": "Consent",
          "type": "group",
          "item": [
            {
              "linkId": "LN/19826-7",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept",
              "code": [
                {
                  "system": "http://snomed.info/sct",
                  "code": "309370004",
                  "display": "Consent status"
                },
                {
                  "system": "http://loinc.org",
                  "code": "19826-7",
                  "display": "Informed consent obtained"
                },
                {
                  "system": "http://loinc.org",
                  "code": "59284-0",
                  "display": "Consent Document"
                }
              ],
              "text": "Has consent has been obtained for tests (Y/N)",
              "type": "choice",
              "answerOption": [
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA33-6",
                    "display": "Yes"
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                },
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA32-8",
                    "display": "No"
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                }
              ]
            },
            {
              "linkId": "LN/75520-7",
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              "code": [
                {
                  "system": "http://loinc.org",
                  "code": "75520-7",
                  "display": "Biobank specimens are stored and available for research"
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              ],
              "text": "Has consent has been obtained for DNA storage (Y/N)",
              "type": "choice",
              "answerOption": [
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA33-6",
                    "display": "Yes"
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                },
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA32-8",
                    "display": "No"
                  }
                }
              ]
            },
            {
              "linkId": "NOS/RODToFollow",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept",
              "code": [
                {
                  "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                  "code": "RODToFollow"
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              ],
              "text": "ROD attached or to follow",
              "type": "choice",
              "answerOption": [
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA33-6",
                    "display": "Yes"
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                },
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA32-8",
                    "display": "No"
                  }
                },
                {
                  "valueCoding": {
                    "system": "http://loinc.org",
                    "code": "LA4489-6",
                    "display": "Unknown"
                  }
                }
              ]
            }
          ]
        },
        {
          "linkId": "PatientClinicalInformation",
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          "type": "group",
          "item": [
            {
              "linkId": "LN/51967-8",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.reasonCode",
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                  "code": "51967-8"
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                {
                  "system": "http://snomed.info/sct",
                  "code": "782964007",
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              ],
              "text": "CITT code (Specific disease suspected/reason for testing)",
              "type": "choice",
              "repeats": true,
              "answerValueSet": "https://nw-gmsa.github.io/ValueSet/genomic-condition-codes"
            },
            {
              "linkId": "HL7/NTE-1",
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              "type": "string"
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            {
              "linkId": "HL7/NTE-2",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.note",
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              "type": "string"
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          ]
        }
      ]
    },
    {
      "linkId": "Specimen",
      "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen",
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        {
          "linkId": "HL7/SPM",
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          "type": "choice",
          "answerValueSet": "http://hl7.org/fhir/ValueSet/specimen-status"
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        {
          "linkId": "LN/80398-1",
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              "system": "http://loinc.org",
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          ],
          "text": "Specimen ID Number",
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            {
              "extension": [
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                  "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
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                  }
                }
              ],
              "linkId": "LN/80398-1-designNote",
              "text": "ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2",
              "type": "display"
            }
          ]
        },
        {
          "linkId": "Specimen/accessionIdentifier",
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              "display": "Unique identifier for Current sample"
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          ],
          "text": "Lab DNA Number (If Known)",
          "type": "string"
        },
        {
          "linkId": "LN/80398-1-ODS",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.accessionIdentifier.assigner.identifier.value",
          "text": "Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)",
          "type": "string"
        },
        {
          "linkId": "LN/33882-2",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.collection.collectedDateTime",
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            {
              "system": "http://loinc.org",
              "code": "33882-2",
              "display": "Collection date of Specimen"
            },
            {
              "system": "http://loinc.org",
              "code": "68963-8",
              "display": "Collection date and time of Specimen"
            }
          ],
          "text": "Specimen Collection Date",
          "type": "dateTime",
          "item": [
            {
              "extension": [
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                  "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
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                  }
                }
              ],
              "linkId": "LN/33882-2-designNote",
              "text": "ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS .\nOML v2.5.1 SPM-17",
              "type": "display"
            }
          ]
        },
        {
          "linkId": "LN/66746-9",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.type.coding.code",
          "code": [
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              "system": "http://loinc.org",
              "code": "66746-9",
              "display": "Specimen Type"
            },
            {
              "system": "http://snomed.info/sct",
              "code": "123038009",
              "display": "Specimen"
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          ],
          "text": "Specimen Type",
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          "answerValueSet": "https://nw-gmsa.github.io/ValueSet/specimen-type",
          "item": [
            {
              "extension": [
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                        "code": "help"
                      }
                    ]
                  }
                }
              ],
              "linkId": "LN/66746-9-designNote",
              "text": "ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE.\nOML v2.5.1 SPM-4",
              "type": "display"
            }
          ]
        },
        {
          "linkId": "SNM/281269004",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept",
          "code": [
            {
              "system": "http://snomed.info/sct",
              "code": "281269004",
              "display": "High infection risk sample"
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          ],
          "text": "High Infection Risk?",
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          "required": false,
          "repeats": false,
          "answerOption": [
            {
              "valueCoding": {
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                "code": "LA33-6",
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            },
            {
              "valueCoding": {
                "system": "http://loinc.org",
                "code": "LA32-8",
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              }
            }
          ]
        },
        {
          "linkId": "NOS/InfectionRiskDetails",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
          "code": [
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              "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
              "code": "InfectionRiskDetails"
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          ],
          "text": "High infection Risk Details",
          "type": "string"
        },
        {
          "linkId": "LN/74384-9",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept",
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              "code": "434711009",
              "display": "Specimen container"
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            {
              "system": "http://loinc.org",
              "code": "74384-9"
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          ],
          "text": "Anticoagulant/preservative?",
          "type": "choice",
          "required": false,
          "repeats": false,
          "answerOption": [
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              "valueCoding": {
                "system": "http://loinc.org",
                "code": "LA33-6",
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            },
            {
              "valueCoding": {
                "system": "http://loinc.org",
                "code": "LA32-8",
                "display": "No"
              }
            }
          ]
        },
        {
          "linkId": "LN/39111-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.collection.bodySite",
          "code": [
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              "system": "http://loinc.org",
              "code": "39111-0"
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            {
              "system": "http://loinc.org",
              "code": "31208-2",
              "display": "Specimen source identified"
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          ],
          "text": "Tissue source/organ of origin",
          "type": "choice"
        },
        {
          "linkId": "LN/3169-0",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.collection.quantity",
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              "system": "http://loinc.org",
              "code": "3169-0",
              "display": "Volume of Specimen"
            },
            {
              "system": "http://loinc.org",
              "code": "42185-9",
              "display": "Number of specimens obtained"
            }
          ],
          "text": "Specimen Volume/number of slides or scrolls",
          "type": "string"
        },
        {
          "linkId": "OrderTracking",
          "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.collection",
          "text": "Audit (Specimen Tracking)",
          "type": "group",
          "item": [
            {
              "linkId": "NOS/SampleReceived",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.receivedTime",
              "text": "Date and time sample received in lab",
              "type": "date"
            },
            {
              "linkId": "NOS/SampleSent",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueDateTime",
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              ],
              "text": "Date and time sample sent",
              "type": "date"
            },
            {
              "linkId": "NOS/TransportUsed",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
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                  "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                  "code": "TransportUsed"
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              ],
              "text": "Transport used",
              "type": "string"
            },
            {
              "linkId": "LN/97209-1",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
              "code": [
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                  "system": "http://loinc.org",
                  "code": "97209-1"
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              ],
              "text": "Tracking number",
              "type": "string"
            },
            {
              "linkId": "NOS/SampleSentTo",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
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                  "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
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              ],
              "text": "Sample sent to",
              "type": "string"
            },
            {
              "linkId": "NOS/SampleSentToName",
              "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString",
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                  "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA",
                  "code": "SampleSentToName"
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              ],
              "text": "Name of person who sent sample",
              "type": "string"
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          ]
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      ]
    },
    {
      "linkId": "AskAtOrderEntry",
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          "linkId": "SNM/842009",
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          "text": "Patient is from consanguineous union?",
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            },
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        {
          "linkId": "SNM/74996004-pathology-report",
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          ],
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          "answerOption": [
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          "item": [
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              "item": [
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                  "linkId": "SNM/370386005",
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                    {
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                    {
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                    }
                  ]
                },
                {
                  "linkId": "SNM/161714006",
                  "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueDateTime",
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                {
                  "extension": [
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                  "linkId": "SNM/598151000005105",
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            },
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              "valueCoding": {
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        },
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          "linkId": "SNM/419099009",
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          ],
          "text": "Is this test for a deceased infant?",
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              "valueCoding": {
                "system": "http://loinc.org",
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              "valueCoding": {
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            },
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              "valueCoding": {
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          ]
        }
      ]
    },
    {
      "linkId": "PriorResults",
      "text": "Prior Results",
      "type": "group"
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  ]
}