NHS North West Genomics
0.2.1 - ci-build United Kingdom flag

NHS North West Genomics - Local Development build (v0.2.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Questionnaire: North West Genomics Test Order Future

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrderFuture Version: 0.2.1
Draft as of 2026-03-21 Computable Name:

THIS IS FOR ANALYSIS, and is not to be used for implementation at present.

The aim of this is to support conversion of multiple Genomic Order Forms HL7 v2 and FHIR.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. THIS IS FOR ANALYSIS, and is not to be used for implementation at present. The aim of this is to support conversion of multiple Genomic Order Forms HL7 v2 and FHIR.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrderFuture#0.2.1
... PatientPatient0..1groupDefinition: Patient
Value Set:
.... LN/45394-4Patient surname1..1string​Definition: Patient.name.family
Value Set:
.... LN/45392-8Patient first name1..1string​Definition: Patient.name.given
Value Set:
.... LN/21112-8Date of birth1..1dateDefinition: Patient.birthDate
Value Set:
.... LN/81954-0Date of death0..1date​Definition: Patient.deceasedDateTime
Value Set:
.... LN/56799-0Address0..1groupDefinition: Patient.address
Value Set:
..... HL7/PID-11-1Address Line0..*string​Definition: Patient.address.line
Value Set:
..... HL7/PID-11-3City0..1string​Definition: Patient.address.city
Value Set:
..... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
Value Set:
.... LN/46098-0Sex registered at birth0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9Ethnic Category0..1choice​Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6NHS Number0..1string​Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/76435-7Hospital Number (Medical Record Number)1..1string​Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56797-4Account Number (Episode or Stay Number)0..1string​Definition: ServiceRequest.encounter.identifier.value
Value Set:
..... LN/56797-4-designNotePV1-19 (also known as stay number)0..1displayValue Set:
.... ageAtCollectionAge at collection0..1decimalValue Set:
.... locationLocation0..1stringValue Set:
.... HL7/PD1-3GP Surgery (ODS Code)0..1choice​Definition: Patient.generalPractitioner
Value Set:
... HealthcareProfessionalHealthcare Professional0..1groupDefinition: PractitionerRole
Value Set:
.... LN/18705-4Referring Clinician Name1..1stringDefinition: PractitionerRole.practitioner.display
Value Set:
.... LN/18707-0Referring Clinician Current Speciality1..1choice​Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/46608-6Referring Clinician Professional Identifier1..1stringDefinition: PractitionerRole.practitioner.identifier.value
Value Set:
.... LN/89058-2Email0..1stringDefinition: PractitionerRole.telecom.value
Value Set:
.... LN/81230-5Phone0..1stringDefinition: PractitionerRole.telecom.value
Value Set:
.... HL7/ORC-21Referring Organisation ODS Code0..1string​Definition: PractitionerRole.organization.identifier.value
Value Set:
... TestRequestTest Request0..1groupDefinition: ServiceRequest
Value Set:
.... 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 =
Value Set:
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
Value Set:
.... LN/106194-4Test request ID/Order ID0..1string​Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
.... LN/82768-3Priority0..1choiceDefinition: ServiceRequest.priority
Value Set: Request Priority
.... ConsentConsent0..1groupValue Set:
..... LN/19826-7Has consent has been obtained for tests (Y/N)0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... LN/75520-7Has consent has been obtained for DNA storage (Y/N)0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... consent-3ROD attached or to follow0..1choiceValue Set:
Options: 3 options
.... PatientClinicalInformationPatient Clinical Information0..1groupValue Set:
..... LN/51967-8CITT code (Specific disease suspected/reason for testing)0..*choiceDefinition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
..... HL7/NTERelevant clinical information and family history0..1string​Definition: ServiceRequest.note
Value Set:
... SpecimenSpecimen/Biopsy0..1groupDefinition: Specimen
Value Set:
.... LN/80398-1Specimen ID Number / Lab DNA Number (If Known)0..1string​Definition: Specimen.identifier.value
Value Set:
..... LN/80398-1-designNoteORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-20..1displayValue Set:
.... LN/80398-1-ODSPathology Laboratory Hospital/Trust ID0..1string​Definition: Specimen.identifier.assigner.identifier.value
Value Set:
.... LN/33882-2Specimen Collection Date0..1dateTime​Definition: Specimen.collection.collectedDateTime
Value Set:
..... LN/33882-2-designNoteORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-170..1displayValue Set:
.... LN/66746-9Specimen Type0..1choice​Definition: 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..1displayValue Set:
.... SNM/281269004High Infection Risk?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/74384-9Anticoagulant/preservative?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/39111-0Tissue source/organ of origin0..1choiceDefinition: Specimen.collection.bodySite
Value Set:
.... LN/3169-0Specimen Volume/number of slides or scrolls0..1stringDefinition: Specimen.collection.quantity
Value Set:
.... OrderTrackingAudit (Specimen Tracking)0..1groupDefinition: Specimen.collection
Value Set:
..... NOS/xxxx1Date and time sample received in lab0..1date​Definition: Specimen.receivedTime
Value Set:
..... NOS/xxxx2Date and time sample sent0..1dateValue Set:
..... NOS/xxxx3Transport used0..1stringValue Set:
..... LN/97209-1Tracking number0..1stringValue Set:
..... NOS/xxxx5Sample sent to0..1stringValue Set:
..... NOS/xxxx6Name of person who sent sample0..1stringValue Set:
... AskAtOrderEntryAsk At Order Entry Questions0..1groupValue Set:
.... SNM/842009Patient is from consanguineous union?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/74996004-pathology-reportConfirm that a pathology report will be provided alongside the sample.0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/385675009Reason for variant re-interpretation request0..1string​Definition: Observation.valueCodeableConcept
Value Set:
.... SNM/119297000Specimen Source (Blood Restrictions)0..1string​Definition: Observation.valueCodeableConcept
Value Set:
.... SNM/782964007Clinical Indication0..1choice​Definition: Observation.valueCodeableConcept
Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/<782964007
.... SNM/78989007Please enter the trisomy screening risk (including the chromosome of interest if appropriate).0..1string​Definition: Observation.valueCodeableConcept
Value Set:
.... SNM/782902008Transplant?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... SNM/5447007Transplant Type0..1choiceEnable When: SNM/782902008 =
Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/<737294004
.... LN/21908-9Advanced Lung Cancer Stage0..1choiceValue Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/<1222594003
.... SNM/74996004Extra Testing Form Completed?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... SNM/74996004-designNotePlease Note That An Additional Test Order Form 'Whole Genome Sequencing Rare Disease Order Form (Link at Top of Form)' is Required To Activate Testing. If This is Not Received, The DNA Will Be Extracted and Stored0..1displayValue Set:
.... SNM/77386006Does this test relate to an ongoing pregnancy?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... pregnantPregnant0..1groupEnable When: SNM/77386006 =
Value Set:
...... SNM/370386005Does this test relate to a pregnancy with > 1 fetus?0..1string​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
...... SNM/161714006Patient expected delivery date0..1date​Definition: Observation.valueDateTime
Value Set:
...... SNM/598151000005105Patient gestation0..1integer​Definition: Observation.valueQuantity
Value Set:
...... SNM/169222003What were the Abnormal Scan Findings0..1string​Definition: Observation.valueQuantity
Value Set:
... PriorResultsPrior Results0..1groupValue Set:
.... HaemoglobinopathyTestResultsHaemoglobinopathy Testing Prior Results0..1groupEnable When: SNM/15220000 =
Value Set:
..... LN/58410-2CBC panel - Blood by Automated count0..1referenceValue Set:
...... LN/58410-2-designNoteSee Questionnaire [CBC panel - Blood by Automated count](https://fhir.nwgenomics.nhs.uk/R4/Questionnaire-58410-2.html)0..1displayValue Set:
.... RareAndInheritedDiseasesGeneticTestingRare and Inherited Disease Prior Results0..1groupEnable When: SNM/15220000 =
Value Set:
.... CancerGeneticTestingCancer Testing Prior Results0..1groupEnable When: SNM/15220000 =
Value Set:
..... UnknownResultsPanelUnknown Results Panel0..1groupValue Set:
...... SNM/250537006Neoplastic Cell Content Level0..1quantity​Definition: Observation.valueQuantity
Value Set:
...... NOS/230031Neoplastic Cell Content Level %0..1quantity​Definition: Observation.valueQuantity
Value Set:
..... SNM/252416005Macrodissection Requirements0..1stringValue Set:
..... NOS/230033Blast Cell Count0..1quantity​Definition: Observation.valueQuantity
Value Set:

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 consent-3

  • 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/782902008

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

Answer options for SNM/74996004

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

Answer options for SNM/77386006

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

Answer options for SNM/370386005

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