{ "resourceType" : "Questionnaire", "id" : "DeafnessR67AskAtOrderEntry", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: Questionnaire DeafnessR67AskAtOrderEntry

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
LinkIDTextCardinalityTypeDescription & Constraints\"doco\"
\".\"\".\" **For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the **Deafness Testing Proforma\n(R67 Non-Syndromic Hearing Loss)**, used alongside the [common core order\nform](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). The\ntest code (R67) is fixed by the choice of form rather than entered - the\nproforma instead exists to capture the clinical detail (audiogram, syndromic\nfeatures, risk factors) that supports the R67 eligibility criteria.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/DeafnessR67AskAtOrderEntry#2.2.0
\".\"\".\"\".\" PatientPatient Details0..1groupDefinition: Patient
\".\"\".\"\".\"\".\" NOS/PatientNameName0..1stringDefinition: Patient.name
\".\"\".\"\".\"\".\"\".\" NOS/PatientName-designNoteSingle free-text Name field on this form, unlike the Surname/Forename split most other paper forms use.0..1display
\".\"\".\"\".\"\".\" LN/21112-8Date of birth0..1dateDefinition: Patient.birthDate
\".\"\".\"\".\"\".\" LN/46098-0Gender0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
\".\"\".\"\".\"\".\" LN/56799-0Address0..1stringDefinition: Patient.address.line
\".\"\".\"\".\"\".\" LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
\".\"\".\"\".\"\".\" LN/76435-7Hospital Number0..1stringDefinition: Patient.identifier:MedicalRecordNumber
\".\"\".\"\".\"\".\" LN/89061-6NHS no0..1stringDefinition: Patient.identifier:nhsNumber
\".\"\".\"\".\" HealthcareProfessionalReferring Clinician0..1groupDefinition: PractitionerRole
\".\"\".\"\".\"\".\" LN/18705-4Referring clinician0..1stringDefinition: PractitionerRole.practitioner.display
\".\"\".\"\".\"\".\" NOS/DepartmentAddressAddress0..1stringDefinition: PractitionerRole.organization.display
\".\"\".\"\".\"\".\" LN/89058-2Email0..1stringDefinition: PractitionerRole.telecom.value
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions0..1group
\".\"\".\"\".\"\".\" NOS/FamilyHistoryPedigreeFamily history/pedigree: other affected individuals, parental consanguinity, ethnicity0..1stringDefinition: ServiceRequest.note
\".\"\".\"\".\"\".\" AudiogramAudiogram0..1group
\".\"\".\"\".\"\".\"\".\" NOS/AudiogramFindingsAudiogram findings (serial if relevant)0..1stringDefinition: Observation.valueString
\".\"\".\"\".\"\".\"\".\" NOS/AudiogramSeverityRightSeverity - right ear0..1integerDefinition: Observation.valueQuantity
\".\"\".\"\".\"\".\"\".\" NOS/AudiogramSeverityLeftSeverity - left ear0..1integerDefinition: Observation.valueQuantity
\".\"\".\"\".\"\".\"\".\" NOS/AudiogramProgressionProgression0..1stringDefinition: Observation.valueString
\".\"\".\"\".\"\".\" NOS/SuspectedSyndromicDiagnosisClinically suspected syndromic diagnosis0..*choiceDefinition: ServiceRequest.reasonCode
Options: 6 options
\".\"\".\"\".\"\".\" NOS/DeafnessRiskFactorsRisk factors0..*choiceDefinition: Observation.valueCodeableConcept
Options: 4 options
\".\"\".\"\".\"\".\" SNM/113091000-mriMRI performed?0..1booleanDefinition: Observation.valueBoolean
\".\"\".\"\".\"\".\" NOS/MRIFindingsMRI findings0..1stringDefinition: Observation.valueString
Enable When: SNM/113091000-mri = true

\"doco\" Documentation for this format

Options Sets

Answer options for NOS/SuspectedSyndromicDiagnosis

Answer options for NOS/DeafnessRiskFactors

" }, "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/DeafnessR67AskAtOrderEntry", "version" : "2.2.0", "title" : "Deafness (R67) 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 **Deafness Testing Proforma\n(R67 Non-Syndromic Hearing Loss)**, used alongside the [common core order\nform](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). The\ntest code (R67) is fixed by the choice of form rather than entered - the\nproforma instead exists to capture the clinical detail (audiogram, syndromic\nfeatures, risk factors) that supports the R67 eligibility criteria.", "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" : "NOS/PatientName", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name", "text" : "Name", "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/PatientName-designNote", "text" : "Single free-text Name field on this form, unlike the Surname/Forename split most other paper forms use.", "type" : "display" }] }, { "linkId" : "LN/21112-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate", "code" : [{ "system" : "http://loinc.org", "code" : "21112-8" }], "text" : "Date of birth", "type" : "date" }, { "linkId" : "LN/46098-0", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender", "code" : [{ "system" : "http://loinc.org", "code" : "46098-0" }], "text" : "Gender", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "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" }, { "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/76435-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber", "code" : [{ "system" : "http://loinc.org", "code" : "76435-7" }], "text" : "Hospital Number", "type" : "string" }, { "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" : "HealthcareProfessional", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole", "text" : "Referring Clinician", "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" : "Referring clinician", "type" : "string" }, { "linkId" : "NOS/DepartmentAddress", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.display", "text" : "Address", "type" : "string" }, { "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" : "Email", "type" : "string" }] }, { "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "type" : "group", "item" : [{ "linkId" : "NOS/FamilyHistoryPedigree", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note", "text" : "Family history/pedigree: other affected individuals, parental consanguinity, ethnicity", "type" : "string" }, { "linkId" : "Audiogram", "text" : "Audiogram", "type" : "group", "item" : [{ "linkId" : "NOS/AudiogramFindings", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString", "text" : "Audiogram findings (serial if relevant)", "type" : "string" }, { "linkId" : "NOS/AudiogramSeverityRight", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "AudiogramSeverityRight" }], "text" : "Severity - right ear", "type" : "integer" }, { "linkId" : "NOS/AudiogramSeverityLeft", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "AudiogramSeverityLeft" }], "text" : "Severity - left ear", "type" : "integer" }, { "linkId" : "NOS/AudiogramProgression", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "AudiogramProgression" }], "text" : "Progression", "type" : "string" }] }, { "linkId" : "NOS/SuspectedSyndromicDiagnosis", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.reasonCode", "text" : "Clinically suspected syndromic diagnosis", "type" : "choice", "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromePendred" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromeUsher" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromeJervellLangeNielsen" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromeWaardenburg" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromeBranchioOtoRenal" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessSyndromeWolfram" } }] }, { "linkId" : "NOS/DeafnessRiskFactors", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "text" : "Risk factors", "type" : "choice", "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessRiskFactorPrematurity" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessRiskFactorHyperbilirubinemia" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessRiskFactorProlongedNNUStay" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "DeafnessRiskFactorOtotoxicMedication" } }] }, { "linkId" : "SNM/113091000-mri", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean", "code" : [{ "system" : "http://snomed.info/sct", "code" : "113091000", "display" : "Magnetic resonance imaging (procedure)" }], "text" : "MRI performed?", "type" : "boolean" }, { "linkId" : "NOS/MRIFindings", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString", "text" : "MRI findings", "type" : "string", "enableWhen" : [{ "question" : "SNM/113091000-mri", "operator" : "=", "answerBoolean" : true }] }] }] }