Package | nw-gmsa.github.io |
Resource Type | Questionnaire |
Id | GenomicTestOrder |
FHIR Version | R4 |
Source | https://nw-gmsa.github.io/https://build.fhir.org/ig/nw-gmsa/R4/Questionnaire-GenomicTestOrder.html |
URL | https://nw-gmsa.github.io/Questionnaire/GenomicTestOrder |
Version | 0.0.7 |
Status | draft |
Date | 2025-08-12T13:52:16+00:00 |
Title | North West Genomics Test Order |
Realm | uk |
Description | The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire GenomicTestOrder
StructureLinkID | 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://nw-gmsa.github.io/Questionnaire/GenomicTestOrder#0.0.7 | |
![]() ![]() ![]() | Patient | 0..1 | group | Definition: Patient |
![]() ![]() ![]() ![]() | Patient surname | 1..1 | string | Definition: Patient.name.family |
![]() ![]() ![]() ![]() | Patient first name | 1..1 | string | Definition: Patient.name.given |
![]() ![]() ![]() ![]() | Date of birth | 1..1 | date | Definition: Patient.birthDate |
![]() ![]() ![]() ![]() | Date of death | 0..1 | date | Definition: Patient.deceasedDateTime |
![]() ![]() ![]() ![]() | Address | 0..1 | group | Definition: Patient.address |
![]() ![]() ![]() ![]() ![]() | Address Line | 0..* | string | Definition: Patient.address.line |
![]() ![]() ![]() ![]() ![]() | City | 0..1 | string | Definition: Patient.address.city |
![]() ![]() ![]() ![]() ![]() | Postcode | 0..1 | string | Definition: Patient.address.postalCode |
![]() ![]() ![]() ![]() | Sex registered at birth | 0..1 | choice | Definition: Patient.gender Value Set: AdministrativeGender |
![]() ![]() ![]() ![]() | Ethnic Category | 0..1 | choice | Definition: Patient.extension:ethnicCategory Value Set: Ethnicity |
![]() ![]() ![]() ![]() | NHS Number | 0..1 | string | Definition: Patient.identifier:nhsNumber |
![]() ![]() ![]() ![]() | Hospital Number (Medical Record Number) | 1..1 | string | Definition: Patient.identifier:MedicalRecordNumber |
![]() ![]() ![]() ![]() | Account Number (Episode or Stay Number) | 0..1 | string | Definition: ServiceRequest.encounter.identifier.value |
![]() ![]() ![]() ![]() ![]() | PV1-19 (also known as stay number) | 0..1 | display | |
![]() ![]() ![]() ![]() | Age at collection (ignore for FHIR) | 0..1 | decimal | |
![]() ![]() ![]() ![]() | Location | 0..1 | string | Definition: Encounter.location |
![]() ![]() ![]() ![]() | GP Surgery (ODS Code) | 0..1 | choice | Definition: Patient.generalPractitioner |
![]() ![]() ![]() | Healthcare Professional | 0..1 | group | Definition: PractitionerRole |
![]() ![]() ![]() ![]() | Referring Clinician Name | 1..1 | string | Definition: PractitionerRole.practitioner.display |
![]() ![]() ![]() ![]() | Referring Clinician Current Speciality | 1..1 | choice | Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code |
![]() ![]() ![]() ![]() | Referring Clinician Professional Identifier | 1..1 | string | Definition: PractitionerRole.practitioner.identifier.value |
![]() ![]() ![]() ![]() | 0..* | string | Definition: PractitionerRole.telecom.value | |
![]() ![]() ![]() ![]() | Phone | 0..1 | string | Definition: PractitionerRole.telecom.value |
![]() ![]() ![]() ![]() | Referring Organisation ODS Code | 0..1 | string | Definition: PractitionerRole.organization.identifier.value |
![]() ![]() ![]() | Test Request | 0..1 | group | Definition: ServiceRequest |
![]() ![]() ![]() ![]() | Test Category | 0..1 | choice | Definition: ServiceRequest.category Value Set: Order Category |
![]() ![]() ![]() ![]() | Test Code (Rare and inherited diseases) | 1..* | choice | Definition: ServiceRequest.code Enable When: SNM/15220000 = Value Set: Genomic Rare and Inherited Disease Test Directory |
![]() ![]() ![]() ![]() | Test Code (Haemoglobinopathy) | 1..* | choice | Definition: ServiceRequest.code Enable When: SNM/15220000 = Options: 5 options |
![]() ![]() ![]() ![]() | Test Code (Cancer) | 1..* | choice | Definition: ServiceRequest.code Enable When: SNM/15220000 = Value Set: Genomic Cancer Test Directory |
![]() ![]() ![]() ![]() | G Number (Pedigree Number) - Order Group Number | 0..1 | string | Definition: ServiceRequest.requisition |
![]() ![]() ![]() ![]() | Test request ID/Order ID | 0..1 | string | Definition: ServiceRequest.identifier:placerOrderNumber |
![]() ![]() ![]() ![]() | Priority | 0..1 | choice | Definition: ServiceRequest.priority Value Set: Request Priority |
![]() ![]() ![]() ![]() | Clinical Geneticist email | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() | Clinical Geneticist department email | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() | Consent | 0..1 | group | |
![]() ![]() ![]() ![]() ![]() | Has consent has been obtained for tests (Y/N) | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
![]() ![]() ![]() ![]() ![]() | Has consent has been obtained for DNA storage (Y/N) | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
![]() ![]() ![]() ![]() ![]() | ROD attached or to follow | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() | Patient Clinical Information | 0..1 | group | |
![]() ![]() ![]() ![]() ![]() | CITT code (Specific disease suspected/reason for testing) | 0..* | choice | Definition: ServiceRequest.reasonCode Value Set: Genomic Condition Codes |
![]() ![]() ![]() ![]() ![]() | Relevant clinical information and family history | 0..1 | string | Definition: ServiceRequest.note |
![]() ![]() ![]() ![]() ![]() | Reason For Variant Re-Interpretation Request | 0..1 | string | Definition: ServiceRequest.note |
![]() ![]() ![]() | Specimen/Biopsy | 0..1 | group | Definition: Specimen |
![]() ![]() ![]() ![]() | Sample collection status | 0..1 | choice | Definition: Specimen.status Value Set: SpecimenStatus |
![]() ![]() ![]() ![]() | Specimen ID Number | 0..1 | string | Definition: Specimen.identifier |
![]() ![]() ![]() ![]() ![]() | ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2 | 0..1 | display | |
![]() ![]() ![]() ![]() | Lab DNA Number (If Known) | 0..1 | string | Definition: Specimen.accessionIdentifier |
![]() ![]() ![]() ![]() | Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA) | 0..1 | string | Definition: Specimen.accessionIdentifier.assigner.identifier.value |
![]() ![]() ![]() ![]() | Specimen Collection Date | 0..1 | dateTime | Definition: Specimen.collection.collectedDateTime |
![]() ![]() ![]() ![]() ![]() | ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17 | 0..1 | display | |
![]() ![]() ![]() ![]() | Specimen Type | 0..1 | choice | Definition: Specimen.type.coding.code Value Set: Specimen Type |
![]() ![]() ![]() ![]() ![]() | ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4 | 0..1 | display | |
![]() ![]() ![]() ![]() | High Infection Risk? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
![]() ![]() ![]() ![]() | High infection Risk Details | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() | Anticoagulant/preservative? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
![]() ![]() ![]() ![]() | Tissue source/organ of origin | 0..1 | choice | Definition: Specimen.collection.bodySite |
![]() ![]() ![]() ![]() | Specimen Volume/number of slides or scrolls | 0..1 | string | Definition: Specimen.collection.quantity |
![]() ![]() ![]() ![]() | Audit (Specimen Tracking) | 0..1 | group | Definition: Specimen.collection |
![]() ![]() ![]() ![]() ![]() | Date and time sample received in lab | 0..1 | date | Definition: Specimen.receivedTime |
![]() ![]() ![]() ![]() ![]() | Date and time sample sent | 0..1 | date | Definition: Observation.valueDateTime |
![]() ![]() ![]() ![]() ![]() | Transport used | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() ![]() | Tracking number | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() ![]() | Sample sent to | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() ![]() ![]() | Name of person who sent sample | 0..1 | string | Definition: Observation.valueString |
![]() ![]() ![]() | Ask At Order Entry Questions | 0..1 | group | |
![]() ![]() ![]() ![]() | Patient is from consanguineous union? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() | Confirm that a pathology report will be provided alongside the sample. | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() | Neonatal/Prenatal/Neither? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() ![]() | Pregnant | 0..1 | group | Enable When: SNM/118185001 = |
![]() ![]() ![]() ![]() ![]() ![]() | Does this test relate to a pregnancy with > 1 fetus? | 0..1 | string | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() ![]() ![]() | Patient expected delivery date | 0..1 | date | Definition: Observation.valueDateTime |
![]() ![]() ![]() ![]() ![]() ![]() | Patient gestation | 0..1 | integer | Definition: Observation.valueQuantity |
![]() ![]() ![]() ![]() | Is this test for a pregnancy loss? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() ![]() | Is this test for a deceased infant? | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
![]() ![]() ![]() | Prior Results | 0..1 | group | |
Options Sets
Answer options for HL7/OBR-4-h
Answer options for LN/19826-7
Answer options for LN/75520-7
Answer options for NOS/RODToFollow
Answer options for SNM/281269004
Answer options for LN/74384-9
Answer options for SNM/842009
Answer options for SNM/74996004-pathology-report
Answer options for SNM/118185001
Answer options for SNM/370386005
Answer options for SNM/17369002
Answer options for SNM/419099009
{ "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" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } } ] }, { "linkId": "LN/75520-7", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://loinc.org", "code": "75520-7", "display": "Biobank specimens are stored and available for research" } ], "text": "Has consent has been obtained for DNA storage (Y/N)", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "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" } ], "text": "ROD attached or to follow", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] } ] }, { "linkId": "PatientClinicalInformation", "text": "Patient Clinical Information", "type": "group", "item": [ { "linkId": "LN/51967-8", "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.reasonCode", "code": [ { "system": "http://loinc.org", "code": "51967-8" }, { "system": "http://snomed.info/sct", "code": "782964007", "display": "Genetic disease" } ], "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", "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.note", "text": "Relevant clinical information and family history", "type": "string" }, { "linkId": "HL7/NTE-2", "definition": "https://nw-gmsa.github.io/StructureDefinition/ServiceRequest#ServiceRequest.note", "text": "Reason For Variant Re-Interpretation Request", "type": "string" } ] } ] }, { "linkId": "Specimen", "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen", "text": "Specimen/Biopsy", "type": "group", "item": [ { "linkId": "HL7/SPM", "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.status", "text": "Sample collection status", "type": "choice", "answerValueSet": "http://hl7.org/fhir/ValueSet/specimen-status" }, { "linkId": "LN/80398-1", "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.identifier", "code": [ { "system": "http://loinc.org", "code": "80398-1", "display": "Unique identifier for Current sample" } ], "text": "Specimen ID Number", "type": "string", "item": [ { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/questionnaire-item-control", "code": "help" } ] } } ], "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", "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.accessionIdentifier", "code": [ { "system": "http://loinc.org", "code": "80398-1", "display": "Unique identifier for Current sample" } ], "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", "code": [ { "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": [ { "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/questionnaire-item-control", "code": "help" } ] } } ], "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": [ { "system": "http://loinc.org", "code": "66746-9", "display": "Specimen Type" }, { "system": "http://snomed.info/sct", "code": "123038009", "display": "Specimen" } ], "text": "Specimen Type", "type": "choice", "answerValueSet": "https://nw-gmsa.github.io/ValueSet/specimen-type", "item": [ { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/questionnaire-item-control", "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" } ], "text": "High Infection Risk?", "type": "choice", "required": false, "repeats": false, "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } } ] }, { "linkId": "NOS/InfectionRiskDetails", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString", "code": [ { "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA", "code": "InfectionRiskDetails" } ], "text": "High infection Risk Details", "type": "string" }, { "linkId": "LN/74384-9", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "434711009", "display": "Specimen container" }, { "system": "http://loinc.org", "code": "74384-9" } ], "text": "Anticoagulant/preservative?", "type": "choice", "required": false, "repeats": false, "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "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": [ { "system": "http://loinc.org", "code": "39111-0" }, { "system": "http://loinc.org", "code": "31208-2", "display": "Specimen source identified" } ], "text": "Tissue source/organ of origin", "type": "choice" }, { "linkId": "LN/3169-0", "definition": "https://nw-gmsa.github.io/StructureDefinition/Specimen#Specimen.collection.quantity", "code": [ { "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", "code": [ { "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA", "code": "SampleSent" } ], "text": "Date and time sample sent", "type": "date" }, { "linkId": "NOS/TransportUsed", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString", "code": [ { "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA", "code": "TransportUsed" } ], "text": "Transport used", "type": "string" }, { "linkId": "LN/97209-1", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString", "code": [ { "system": "http://loinc.org", "code": "97209-1" } ], "text": "Tracking number", "type": "string" }, { "linkId": "NOS/SampleSentTo", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString", "code": [ { "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA", "code": "SampleSentTo" } ], "text": "Sample sent to", "type": "string" }, { "linkId": "NOS/SampleSentToName", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueString", "code": [ { "system": "https://nw-gmsa.github.io/CodeSystem/NWGMSA", "code": "SampleSentToName" } ], "text": "Name of person who sent sample", "type": "string" } ] } ] }, { "linkId": "AskAtOrderEntry", "text": "Ask At Order Entry Questions", "type": "group", "item": [ { "linkId": "SNM/842009", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "842009", "display": "Consanguinity" } ], "text": "Patient is from consanguineous union?", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] }, { "linkId": "SNM/74996004-pathology-report", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "74996004", "display": "Confirmation of" } ], "text": "Confirm that a pathology report will be provided alongside the sample.", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] }, { "linkId": "SNM/118185001", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "118185001", "display": "Finding related to pregnancy" } ], "text": "Neonatal/Prenatal/Neither?", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://snomed.info/sct", "code": "77386006", "display": "Pregnancy" } }, { "valueCoding": { "system": "http://snomed.info/sct", "code": "255407002", "display": "Neonatal" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } } ], "item": [ { "linkId": "pregnant", "text": "Pregnant", "type": "group", "enableWhen": [ { "question": "SNM/118185001", "operator": "=", "answerCoding": { "system": "http://snomed.info/sct", "code": "77386006" } } ], "item": [ { "linkId": "SNM/370386005", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "370386005", "display": "Ultrasound scan - multiple fetus" } ], "text": "Does this test relate to a pregnancy with > 1 fetus?", "type": "string", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] }, { "linkId": "SNM/161714006", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueDateTime", "code": [ { "system": "http://snomed.info/sct", "code": "161714006", "display": "Estimated date of delivery" } ], "text": "Patient expected delivery date", "type": "date" }, { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding": { "system": "http://unitsofmeasure.org", "code": "wk", "display": "Wk" } } ], "linkId": "SNM/598151000005105", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueQuantity", "code": [ { "system": "http://snomed.info/sct", "code": "598151000005105", "display": "Gestational age" } ], "text": "Patient gestation", "type": "integer" } ] } ] }, { "linkId": "SNM/17369002", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "17369002", "display": "Miscarriage" } ], "text": "Is this test for a pregnancy loss?", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] }, { "linkId": "SNM/419099009", "definition": "https://nw-gmsa.github.io/StructureDefinition/Observation#Observation.valueCodeableConcept", "code": [ { "system": "http://snomed.info/sct", "code": "419099009", "display": "Dead" } ], "text": "Is this test for a deceased infant?", "type": "choice", "answerOption": [ { "valueCoding": { "system": "http://loinc.org", "code": "LA33-6", "display": "Yes" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA32-8", "display": "No" } }, { "valueCoding": { "system": "http://loinc.org", "code": "LA4489-6", "display": "Unknown" } } ] } ] }, { "linkId": "PriorResults", "text": "Prior Results", "type": "group" } ] }