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Packagefhir.nwgenomics.nhs.uk
Resource TypeQuestionnaire
IdQuestionnaire-DeafnessR67AskAtOrderEntry.json
FHIR VersionR4
Sourcehttps://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-DeafnessR67AskAtOrderEntry.html
URLhttps://fhir.nwgenomics.nhs.uk/Questionnaire/DeafnessR67AskAtOrderEntry
Version2.2.0
Statusunknown
Date2026-09-27T08:17:18+00:00
TitleDeafness (R67) Ask At Order Entry Questions
Realmus
Authorityhl7
Description**For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the **Deafness Testing Proforma (R67 Non-Syndromic Hearing Loss)**, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). The test code (R67) is fixed by the choice of form rather than entered - the proforma instead exists to capture the clinical detail (audiogram, syndromic features, risk factors) that supports the R67 eligibility criteria.

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Questionnaire DeafnessR67AskAtOrderEntry

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the **Deafness Testing Proforma (R67 Non-Syndromic Hearing Loss)**, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). The test code (R67) is fixed by the choice of form rather than entered - the proforma instead exists to capture the clinical detail (audiogram, syndromic features, 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

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromePendred
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromeUsher
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromeJervellLangeNielsen
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromeWaardenburg
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromeBranchioOtoRenal
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessSyndromeWolfram

Answer options for NOS/DeafnessRiskFactors

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessRiskFactorPrematurity
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessRiskFactorHyperbilirubinemia
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessRiskFactorProlongedNNUStay
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#DeafnessRiskFactorOtotoxicMedication

Source1

{
  "resourceType": "Questionnaire",
  "id": "DeafnessR67AskAtOrderEntry",
  "meta": {
    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "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": "2026-09-27T08:17:18+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
            }
          ]
        }
      ]
    }
  ]
}