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

Generated Narrative: Questionnaire RareDiseaseGenomicAskAtOrderEntry

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
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 Testing\nRequest Form - Rare Disease** (DOC4900), the generic Rare Disease paper\norder form, used alongside the [common core order\nform](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform's own Test Request Details section (R code, clinical details) already\nmaps directly onto the common core's Test Request group, so this\nQuestionnaire only carries the additional Clinical Utility and targeted\nfamilial testing detail the paper form asks for.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry#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/Clinician (in full)0..1stringDefinition: PractitionerRole.practitioner.display
\".\"\".\"\".\"\".\" HL7/ORC-21Hospital/Surgery (in full)0..1stringDefinition: PractitionerRole.organization.identifier.value
\".\"\".\"\".\"\".\" LN/18707-0Clinical Specialty/Department0..1choiceDefinition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
\".\"\".\"\".\"\".\" 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) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields.0..1display
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions0..1group
\".\"\".\"\".\"\".\" NOS/ClinicalUtilityClinical utility1..*choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
\".\"\".\"\".\"\".\" NOS/TargetedFamilialTestingTargeted familial testing?0..1booleanDefinition: Observation.valueBoolean
\".\"\".\"\".\"\".\" NOS/TargetedFamilialVariantKnown familial variant and affected relative0..1stringDefinition: Observation.valueString
Enable When: NOS/TargetedFamilialTesting = true

\"doco\" Documentation for this format

Options Sets

Answer options for NOS/ClinicalUtility

" }, "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/RareDiseaseGenomicAskAtOrderEntry", "version" : "2.2.0", "title" : "Rare Disease Genomic Testing 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 Testing\nRequest Form - Rare Disease** (DOC4900), the generic Rare Disease paper\norder form, used alongside the [common core order\nform](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform's own Test Request Details section (R code, clinical details) already\nmaps directly onto the common core's Test Request group, so this\nQuestionnaire only carries the additional Clinical Utility and targeted\nfamilial testing detail the paper form asks for.", "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/Clinician (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" : "Clinical Specialty/Department", "type" : "choice", "answerValueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode" }, { "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) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields.", "type" : "display" }] }] }, { "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "type" : "group", "item" : [{ "linkId" : "NOS/ClinicalUtility", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "text" : "Clinical utility", "type" : "choice", "required" : true, "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityPatientManagement" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityReproductiveDecision" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityPredictiveTesting" } }] }, { "linkId" : "NOS/TargetedFamilialTesting", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean", "text" : "Targeted familial testing?", "type" : "boolean" }, { "linkId" : "NOS/TargetedFamilialVariant", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "TargetedFamilialVariant" }], "text" : "Known familial variant and affected relative", "type" : "string", "enableWhen" : [{ "question" : "NOS/TargetedFamilialTesting", "operator" : "=", "answerBoolean" : true }] }] }] }