Generated Narrative: Questionnaire GenomicTestOrder Profile: Questionnaire Structure LinkID Text Cardinality Type Description & Constraints The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder #xD; Patient Patient 0..1 group Definition: Patient #xD; LN/45394-4 Patient surname 1..1 string Definition: Patient.name.family #xD; LN/45392-8 Patient first name 1..1 string Definition: Patient.name.given #xD; LN/21112-8 Date of birth 1..1 date Definition: Patient.birthDate #xD; LN/81954-0 Date of death 0..1 date Definition: Patient.deceasedDateTime #xD; LN/56799-0 Address 0..1 group Definition: Patient.address #xD; HL7/PID-11-1 Address Line 0..* string Definition: Patient.address.line #xD; HL7/PID-11-3 City 0..1 string Definition: Patient.address.city #xD; LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode #xD; LN/46098-0 Sex registered at birth 0..1 choice Definition: Patient.gender Value Set: AdministrativeGender #xD; LN/32624-9 Ethnic Category 0..1 choice Definition: Patient.extension:ethnicCategory Value Set: Ethnicity #xD; LN/89061-6 NHS Number 0..1 string Definition: Patient.identifier:nhsNumber #xD; LN/76435-7 Hospital Number (Medical Record Number) 1..1 string Definition: Patient.identifier:MedicalRecordNumber #xD; LN/56797-4 Account Number (Episode or Stay Number) 0..1 string Definition: ServiceRequest.encounter.identifier.value #xD; LN/56797-4-designNote PV1-19 (also known as stay number) 0..1 display #xD; ageAtCollection Age at collection (ignore for FHIR) 0..1 decimal #xD; LN/89009-5 Location 0..1 string Definition: Encounter.location #xD; HL7/PD1-3 GP Surgery (ODS Code) 0..1 choice Definition: Patient.generalPractitioner #xD; HealthcareProfessional Healthcare Professional 0..1 group Definition: PractitionerRole #xD; LN/18705-4 Referring Clinician Name 1..1 string Definition: PractitionerRole.practitioner.display #xD; LN/18707-0 Referring Clinician Current Speciality 1..1 choice Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code #xD; LN/46608-6 Referring Clinician Professional Identifier 1..1 string Definition: PractitionerRole.practitioner.identifier.value #xD; LN/89058-2 Email 0..* string Definition: PractitionerRole.telecom.value #xD; LN/81230-5 Phone 0..1 string Definition: PractitionerRole.telecom.value #xD; HL7/ORC-21 Referring Organisation ODS Code / Ordering Facility 0..1 string Definition: PractitionerRole.organization.identifier.value #xD; TestRequest Test Request 0..1 group Definition: ServiceRequest #xD; SNM/15220000 Test Category 0..1 choice Definition: ServiceRequest.category Value Set: Order Category #xD; HL7/OBR-4-r Test Code (Rare and inherited diseases) 1..* choice Definition: ServiceRequest.code Enable When: SNM/15220000 = Value Set: Genomic Rare and Inherited Disease Test Directory #xD; HL7/OBR-4-h Test Code (Haemoglobinopathy) 1..* choice Definition: ServiceRequest.code Enable When: SNM/15220000 = Options: 5 options #xD; HL7/OBR-4-c Test Code (Cancer) 1..* choice Definition: ServiceRequest.code Enable When: SNM/15220000 = Value Set: Genomic Cancer Test Directory #xD; pedigreeNumber G Number (Pedigree Number) - Order Group Number 0..1 string Definition: Patient.identifier:PedigreeNumber #xD; LN/106194-4 Test request ID/Order ID 0..1 string Definition: ServiceRequest.identifier:PlacerOrderNumber #xD; LN/82768-3 Priority 0..1 choice Definition: ServiceRequest.priority Value Set: Request Priority #xD; NOS/GeneticistEmail Clinical Geneticist email 0..1 string Definition: Observation.valueString #xD; NOS/GeneticistDepartmentEmail Clinical Geneticist department email 0..1 string Definition: Observation.valueString #xD; Consent Consent 0..1 group #xD; LN/19826-7 Has consent has been obtained for tests (Y/N) 0..1 choice Definition: Observation.valueCodeableConcept Options: 2 options #xD; LN/75520-7 Has consent has been obtained for DNA storage (Y/N) 0..1 choice Definition: Observation.valueCodeableConcept Options: 2 options #xD; NOS/RODToFollow ROD attached or to follow 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; PatientClinicalInformation Patient Clinical Information 0..1 group #xD; LN/51967-8 CITT code (Specific disease suspected/reason for testing) 0..* choice Definition: ServiceRequest.reasonCode Value Set: Genomic Clinical Indication Codes #xD; HL7/NTE-1 Relevant clinical information and family history 0..1 string Definition: ServiceRequest.note #xD; HL7/NTE-2 Reason For Variant Re-Interpretation Request 0..1 string Definition: ServiceRequest.note #xD; Specimen Specimen/Biopsy 0..1 group Definition: Specimen #xD; HL7/SPM Sample collection status 0..1 choice Definition: Specimen.status Value Set: SpecimenStatus #xD; LN/80398-1 Specimen ID Number 0..1 string Definition: Specimen.identifier #xD; LN/80398-1-designNote ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2 0..1 display #xD; Specimen/accessionIdentifier Lab DNA Number (If Known) 0..1 string Definition: Specimen.accessionIdentifier #xD; LN/80398-1-ODS Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA) 0..1 string Definition: Specimen.accessionIdentifier.assigner.identifier.value #xD; LN/33882-2 Specimen Collection Date 0..1 dateTime Definition: Specimen.collection.collectedDateTime #xD; LN/33882-2-designNote ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17 0..1 display #xD; LN/66746-9 Specimen Type 0..1 choice Definition: Specimen.type.coding.code Value Set: Specimen Type #xD; LN/66746-9-designNote ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4 0..1 display #xD; SNM/281269004 High Infection Risk? 0..1 choice Definition: Observation.valueCodeableConcept Options: 2 options #xD; NOS/InfectionRiskDetails High infection Risk Details 0..1 string Definition: Observation.valueString #xD; LN/74384-9 Anticoagulant/preservative? 0..1 choice Definition: Observation.valueCodeableConcept Options: 2 options #xD; LN/39111-0 Tissue source/organ of origin 0..1 choice Definition: Specimen.collection.bodySite #xD; LN/3169-0 Specimen Volume/number of slides or scrolls 0..1 string Definition: Specimen.collection.quantity #xD; OrderTracking Audit (Specimen Tracking) 0..1 group Definition: Specimen.collection #xD; NOS/SampleReceived Date and time sample received in lab 0..1 date Definition: Specimen.receivedTime #xD; NOS/SampleSent Date and time sample sent 0..1 date Definition: Observation.valueDateTime #xD; NOS/TransportUsed Transport used 0..1 string Definition: Observation.valueString #xD; LN/97209-1 Tracking number 0..1 string Definition: Specimen.identifier[ShipmentTrackingNumber] #xD; NOS/SampleSentTo Sample sent to 0..1 string Definition: Observation.valueString #xD; NOS/SampleSentToName Name of person who sent sample 0..1 string Definition: Observation.valueString #xD; AskAtOrderEntry Ask At Order Entry Questions 0..1 group #xD; SNM/842009 Patient is from consanguineous union? 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; SNM/74996004-pathology-report Confirm that a pathology report will be provided alongside the sample. 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; SNM/118185001 Neonatal/Prenatal/Neither? 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; pregnant Pregnant 0..1 group Enable When: SNM/118185001 = #xD; SNM/370386005 Does this test relate to a pregnancy with > 1 fetus? 0..1 string Definition: Observation.valueCodeableConcept Options: 3 options #xD; SNM/161714006 Patient expected delivery date 0..1 date Definition: Observation.valueDateTime #xD; SNM/598151000005105 Patient gestation 0..1 integer Definition: Observation.valueQuantity #xD; SNM/17369002 Is this test for a pregnancy loss? 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; SNM/419099009 Is this test for a deceased infant? 0..1 choice Definition: Observation.valueCodeableConcept Options: 3 options #xD; PriorResults Prior Results 0..1 group #xD; 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")
The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.
Referring Clinician Professional Identifier
Referring Organisation ODS Code / Ordering Facility
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing
Newborn screening for sickle cell disease in a transfused baby
Sickle cell, thalassaemia and other haemoglobinopathies
G Number (Pedigree Number) - Order Group Number
Has consent has been obtained for tests (Y/N)
Biobank specimens are stored and available for research
Has consent has been obtained for DNA storage (Y/N)
CITT code (Specific disease suspected/reason for testing)
Relevant clinical information and family history
Reason For Variant Re-Interpretation Request
ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2
Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)
ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17
ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4
Specimen Volume/number of slides or scrolls
Confirm that a pathology report will be provided alongside the sample.
Does this test relate to a pregnancy with > 1 fetus?