{ "resourceType" : "Questionnaire", "id" : "VariantReviewAskAtOrderEntry", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: Questionnaire VariantReviewAskAtOrderEntry

Profile: Questionnaire

Structure\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
LinkIDTextCardinalityTypeDescription & Constraints\"doco\"
\".\"\".\" **For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the NW GLH paper **Genomic Variant\nReview Request Form (R442.1) - Rare Disease** (DOC6004), used alongside the\n[common core order form](Questionnaire-GenomicTestOrder.html) - see [Order\nEntry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions).\nThis form does not request a new test on a new specimen - it asks the\nlaboratory to **re-review a variant already reported**, so its distinctive\ncontent is a reference back to that prior report rather than specimen\ndetail.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/VariantReviewAskAtOrderEntry#2.2.0
\".\"\".\"\".\" PatientPatient Details0..1groupDefinition: Patient
\".\"\".\"\".\"\".\" LN/45394-4Surname0..1stringDefinition: Patient.name.family
\".\"\".\"\".\"\".\" LN/45392-8Forename0..1stringDefinition: Patient.name.given
\".\"\".\"\".\"\".\" LN/21112-8D.O.B.0..1dateDefinition: Patient.birthDate
\".\"\".\"\".\"\".\" LN/46098-0Biological Sex0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
\".\"\".\"\".\"\".\" NOS/GenderIdentityGender Identity0..1string
\".\"\".\"\".\"\".\"\".\" NOS/GenderIdentity-designNoteNo clean FHIR field identified - distinct from Biological Sex on this form's own layout.0..1display
\".\"\".\"\".\"\".\" LN/56799-0Address0..*stringDefinition: Patient.address.line
\".\"\".\"\".\"\".\" LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
\".\"\".\"\".\"\".\" LN/32624-9Ethnicity0..1choiceDefinition: Patient.extension:ethnicCategory
Value Set: Ethnicity
\".\"\".\"\".\"\".\" LN/89061-6NHS No0..1stringDefinition: Patient.identifier:nhsNumber
\".\"\".\"\".\"\".\" LN/76435-7Hospital No0..1stringDefinition: Patient.identifier:MedicalRecordNumber
\".\"\".\"\".\" HealthcareProfessionalReferring Clinician/Healthcare Professional0..1groupDefinition: PractitionerRole
\".\"\".\"\".\"\".\" LN/18705-4Consultant/GP (in full)0..1stringDefinition: PractitionerRole.practitioner.display
\".\"\".\"\".\"\".\" HL7/ORC-21Hospital/Surgery (in full)0..1stringDefinition: PractitionerRole.organization.identifier.value
\".\"\".\"\".\"\".\" LN/18707-0Department0..1choiceDefinition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
\".\"\".\"\".\"\".\"\".\" LN/18707-0-designNoteDistinct from this Questionnaire's own Specialty (e.g. Core, Cardiology) item (NOS/ReviewSpecialty) below - that one is the specialty performing the review, this is the referring clinician's own department.0..1display
\".\"\".\"\".\"\".\" LN/89058-2E-mail/Tel0..1stringDefinition: PractitionerRole.telecom.value
\".\"\".\"\".\"\".\" NOS/RequestedByCcReportToRequested by/Cc. Report to0..1string
\".\"\".\"\".\"\".\"\".\" NOS/RequestedByCcReportTo-designNoteSame genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To).0..1display
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions0..1group
\".\"\".\"\".\"\".\" NOS/VariantReviewReasonReason for review1..1choiceDefinition: ServiceRequest.reasonCode
Options: 4 options
\".\"\".\"\".\"\".\"\".\" NOS/VariantReviewReason-designNoteCovers similar ground to Reason For Variant Re-Interpretation Request in NW Genomic General Ask At Order Questions (NOS/VariantReinterpretationReason), which is a single free-text field - this form's four named reasons are kept as their own coded item rather than reused, since they are specific eligibility criteria for requesting a review, not a general free-text reason.0..1display
\".\"\".\"\".\"\".\" NOS/VariantsUnderReviewVariant(s) under review1..1stringDefinition: ServiceRequest.note
\".\"\".\"\".\"\".\" NOS/ReportReferencePrior report reference1..1referenceDefinition: ServiceRequest.basedOn
\".\"\".\"\".\"\".\"\".\" NOS/ReportReference-designNoteIf this variant was reported by an external GLH, please attach a copy of the report - ServiceRequest.supportingInfo -> DocumentReference -> Binary, the same pattern used for the family letter on Genetic Clinical Referral.0..1display
\".\"\".\"\".\"\".\" NOS/ReviewSpecialtySpecialty (e.g. Core, Cardiology)0..1stringDefinition: PractitionerRole.specialty.coding.code
\".\"\".\"\".\"\".\" NOS/AdditionalEvidenceAdditional evidence (new clinical or scientific information)0..1stringDefinition: ServiceRequest.note

\"doco\" Documentation for this format

Options Sets

Answer options for NOS/VariantReviewReason

" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding" : { "system" : "http://hl7.org/fhir/version-algorithm", "code" : "semver" } }], "url" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/VariantReviewAskAtOrderEntry", "version" : "2.2.0", "title" : "Genomic Variant Review Ask At Order Entry Questions", "status" : "unknown", "date" : "2026-09-20T05:53:36+00:00", "publisher" : "NHS North West Genomics", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "https://www.nwgenomics.nhs.uk/contact-us" }] }], "description" : "**For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the NW GLH paper **Genomic Variant\nReview Request Form (R442.1) - Rare Disease** (DOC6004), used alongside the\n[common core order form](Questionnaire-GenomicTestOrder.html) - see [Order\nEntry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions).\nThis form does not request a new test on a new specimen - it asks the\nlaboratory to **re-review a variant already reported**, so its distinctive\ncontent is a reference back to that prior report rather than specimen\ndetail.", "jurisdiction" : [{ "coding" : [{ "system" : "urn:iso:std:iso:3166", "code" : "GB", "display" : "United Kingdom of Great Britain and Northern Ireland" }] }], "item" : [{ "linkId" : "Patient", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient", "text" : "Patient Details", "type" : "group", "item" : [{ "linkId" : "LN/45394-4", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family", "code" : [{ "system" : "http://loinc.org", "code" : "45394-4" }], "text" : "Surname", "type" : "string" }, { "linkId" : "LN/45392-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given", "code" : [{ "system" : "http://loinc.org", "code" : "45392-8" }], "text" : "Forename", "type" : "string" }, { "linkId" : "LN/21112-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate", "code" : [{ "system" : "http://loinc.org", "code" : "21112-8" }], "text" : "D.O.B.", "type" : "date" }, { "linkId" : "LN/46098-0", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender", "code" : [{ "system" : "http://loinc.org", "code" : "46098-0" }], "text" : "Biological Sex", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "linkId" : "NOS/GenderIdentity", "text" : "Gender Identity", "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" : "NOS/GenderIdentity-designNote", "text" : "No clean FHIR field identified - distinct from Biological Sex on this form's own layout.", "type" : "display" }] }, { "linkId" : "LN/56799-0", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.line", "code" : [{ "system" : "http://loinc.org", "code" : "56799-0" }], "text" : "Address", "type" : "string", "repeats" : true }, { "linkId" : "LN/45401-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.postalCode", "code" : [{ "system" : "http://loinc.org", "code" : "45401-7" }], "text" : "Postcode", "type" : "string" }, { "linkId" : "LN/32624-9", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory", "code" : [{ "system" : "http://loinc.org", "code" : "32624-9" }], "text" : "Ethnicity", "type" : "choice", "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity" }, { "linkId" : "LN/89061-6", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber", "code" : [{ "system" : "http://loinc.org", "code" : "89061-6" }], "text" : "NHS No", "type" : "string" }, { "linkId" : "LN/76435-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber", "code" : [{ "system" : "http://loinc.org", "code" : "76435-7" }], "text" : "Hospital No", "type" : "string" }] }, { "linkId" : "HealthcareProfessional", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole", "text" : "Referring Clinician/Healthcare Professional", "type" : "group", "item" : [{ "linkId" : "LN/18705-4", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.display", "code" : [{ "system" : "http://loinc.org", "code" : "18705-4" }], "text" : "Consultant/GP (in full)", "type" : "string" }, { "linkId" : "HL7/ORC-21", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value", "text" : "Hospital/Surgery (in full)", "type" : "string" }, { "linkId" : "LN/18707-0", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code", "code" : [{ "system" : "http://loinc.org", "code" : "18707-0" }], "text" : "Department", "type" : "choice", "answerValueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "LN/18707-0-designNote", "text" : "Distinct from this Questionnaire's own Specialty (e.g. Core, Cardiology) item (NOS/ReviewSpecialty) below - that one is the specialty performing the review, this is the referring clinician's own department.", "type" : "display" }] }, { "linkId" : "LN/89058-2", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value", "code" : [{ "system" : "http://loinc.org", "code" : "89058-2", "display" : "Contact email address" }], "text" : "E-mail/Tel", "type" : "string" }, { "linkId" : "NOS/RequestedByCcReportTo", "text" : "Requested by/Cc. Report to", "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" : "NOS/RequestedByCcReportTo-designNote", "text" : "Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To).", "type" : "display" }] }] }, { "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "type" : "group", "item" : [{ "linkId" : "NOS/VariantReviewReason", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.reasonCode", "text" : "Reason for review", "type" : "choice", "required" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "VariantReviewReasonNewInformation" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "VariantReviewReasonTimeElapsed" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "VariantReviewReasonUrgent" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "VariantReviewReasonFormalClassification" } }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/VariantReviewReason-designNote", "text" : "Covers similar ground to Reason For Variant Re-Interpretation Request in NW Genomic General Ask At Order Questions (NOS/VariantReinterpretationReason), which is a single free-text field - this form's four named reasons are kept as their own coded item rather than reused, since they are specific eligibility criteria for requesting a review, not a general free-text reason.", "type" : "display" }] }, { "linkId" : "NOS/VariantsUnderReview", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note", "text" : "Variant(s) under review", "type" : "string", "required" : true }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile", "valueCanonical" : "http://hl7.org/fhir/StructureDefinition/DiagnosticReport" }], "linkId" : "NOS/ReportReference", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.basedOn", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ReportReference" }], "text" : "Prior report reference", "type" : "reference", "required" : true, "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/ReportReference-designNote", "text" : "If this variant was reported by an external GLH, please attach a copy of the report - ServiceRequest.supportingInfo -> DocumentReference -> Binary, the same pattern used for the family letter on Genetic Clinical Referral.", "type" : "display" }] }, { "linkId" : "NOS/ReviewSpecialty", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code", "text" : "Specialty (e.g. Core, Cardiology)", "type" : "string" }, { "linkId" : "NOS/AdditionalEvidence", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note", "text" : "Additional evidence (new clinical or scientific information)", "type" : "string" }] }] }