NHS North West Genomics
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Questionnaire: Cystic Fibrosis Carrier Testing Ask At Order Entry Questions

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/CysticFibrosisCarrierAskAtOrderEntry Version: 2.2.0
Unknown as of 2026-09-20 Computable Name:

For analysis purposes only - not an active or planned project.

Ask At Order Entry Questions for the NW GLH paper Request for Genetic Cystic Fibrosis (CF) Carrier Testing (CFTR Gene) form, used alongside the common core order form - see Order Entry Questions. Unlike the other paper forms, this one is specifically for use by General Practitioners rather than hospital clinicians, and structures one of two mutually exclusive referral scenarios: a family history of CF, or a partner who is affected/a carrier.

This Questionnaire is compared against Genomic Test Order - see NW GLH Paper Test Request Forms - but does not yet declare derivedFrom/extends it: unlike the Ask At Order Entry Questionnaires that originated from an existing digital order-entry screen (see Order Entry Questions), this one hasn't yet been processed into the specific electronic Ask At Order Entry shape that relationship implies for use in an actual order. It structures the NW GLH paper Request for Genetic Cystic Fibrosis (CF) Carrier Testing (CFTR Gene) form - see NW Genomics paper test request forms for how this compares to the other paper forms.

Source form: GP Form: Cystic Fibrosis carrier test request, DOC4356 (DOCX)

Summary

Item Paper Form Field FHIR
Surname/Forename/DoB Free text Patient.name / Patient.birthDate
NHS No/Sex/Hospital No Free text Patient.identifier:nhsNumber / Patient.gender / Patient.identifier:MedicalRecordNumber
Address/Postcode Free text Patient.address
Ethnicity/country of origin Free text Patient.extension:ethnicCategory
Referring Clinician (GP Name, Surgery Address, Telephone No, Email) Free text PractitionerRole
Referral scenario Family history of CF / Partner affected or carrier Observation.valueCodeableConcept
Relative/partner Name, relationship, sex, DOB, NHS/hospital number (if known) RelatedPerson (NK1-shaped, Role = Consultand), repeating group
- Status of relative/partner (CF-specific) Affected / Carrier Observation.valueCodeableConcept, nested
- Known familial CFTR variant (CF-specific) Free text Observation.valueString, nested

This is the only one of the ten paper forms explicitly designed for use by General Practitioners rather than a hospital-based ordering clinician - its Referring Clinician section is labelled "GP Name"/"Surgery Address" rather than "Consultant"/"Hospital", though both map onto the same common core HealthcareProfessional group. Carrier testing is restricted to patients aged 16 or over (informed consent), noted as a help item rather than a data field. No Order Placer Number, Account Number/Hospital Spell Identifier, or clinician professional identifier (GMC/GMP) field is present on the paper form.

The relative/partner is structured using the same NK1-shaped RelatedPerson group as WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1) and Genetic Clinical Referral - Consultand, under its Consultand role - the patient remains this ServiceRequest's own subject throughout, whichever referral scenario applies. Status (Affected/Carrier) and the known familial CFTR variant are Cystic Fibrosis-specific additions nested alongside the shared fields, not part of the general shape.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Request for Genetic Cystic Fibrosis (CF) Carrier Testing (CFTR Gene)** form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Unlike the other paper forms, this one is specifically for use by **General Practitioners** rather than hospital clinicians, and structures one of two mutually exclusive referral scenarios: a family history of CF, or a partner who is affected/a carrier. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/CysticFibrosisCarrierAskAtOrderEntry#2.2.0
... Patient Patient Details 0..1 group Definition: Patient
Value Set:
.... LN/45394-4 Surname 0..1 string Definition: Patient.name.family
Value Set:
.... LN/45392-8 Forename 0..1 string Definition: Patient.name.given
Value Set:
.... LN/21112-8 DoB 0..1 date Definition: Patient.birthDate
Value Set:
.... LN/89061-6-patient NHS No 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
..... LN/89061-6-patient-designNote Distinct linkId from NOS/RelatedIndividual's own NHS Number (if known) item below (LN/89061-6) - that one is the relative/partner's, this is this order's own Patient. 0..1 display Value Set:
.... LN/46098-0 Sex 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... LN/76435-7-patient Hospital No 0..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56799-0 Address 0..1 string Definition: Patient.address.line
Value Set:
.... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/32624-9 Ethnicity/country of origin 0..1 string Definition: Patient.extension:ethnicCategory
Value Set:
..... LN/32624-9-designNote Free text on this form ('please be specific, i.e. white British rather than Caucasian') rather than the coded Ethnicity ValueSet used elsewhere in this IG. 0..1 display Value Set:
... HealthcareProfessional Referring Clinician 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 GP Name 0..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... NOS/DepartmentAddress Surgery Address 0..1 string Definition: PractitionerRole.organization.display
Value Set:
.... LN/81230-5 Telephone No 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... LN/89058-2 Email 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
... AskAtOrderEntry Ask At Order Entry Questions 0..1 group Value Set:
.... NOS/CFReferralScenario Referral scenario 1..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... NOS/CFReferralScenario-designNote Carrier testing cannot be requested for individuals under 16 years of age, as they cannot give informed consent. 0..1 display Value Set:
.... NOS/RelatedIndividual Relative/Partner (Related Individual, NK1) 0..* group Definition: RelatedPerson
Value Set:
..... NOS/RelatedIndividual-designNote Same NK1-shaped RelatedPerson group as NW Genomic General Ask At Order Questions' own Related Individual (NK1) group (NOS/RelatedIndividual), used here under its Consultand role - the patient remains this ServiceRequest's own subject throughout, whether the Family History or Partner referral scenario applies. Status and Variant below are Cystic Fibrosis-specific additions nested alongside the shared fields, not part of the general shape. 0..1 display Value Set:
..... NOS/RelatedIndividualRole Role 1..1 choice Value Set:
Options: 1 option
..... HL7/NK1-2 Name 1..1 string Definition: RelatedPerson.name
Value Set:
..... HL7/NK1-3 Relationship to patient (relative scenario only) 0..1 choice Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
..... HL7/NK1.15 Administrative Sex 0..1 choice Definition: RelatedPerson.gender
Value Set: AdministrativeGender
..... HL7/NK1-16 Date of Birth 0..1 date Definition: RelatedPerson.birthDate
Value Set:
..... LN/89061-6 NHS Number (if known) 0..1 string Definition: RelatedPerson.identifier:nhsNumber
Value Set:
..... LN/76435-7 Hospital Number (Medical Record Number), if known 0..1 string Definition: RelatedPerson.identifier:MedicalRecordNumber
Value Set:
..... NOS/RelatedIndividual-patient This order's own Patient 1..1 reference Definition: RelatedPerson.patient
Value Set:
..... NOS/RelativeOrPartnerStatus Status of relative/partner 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... NOS/RelativeOrPartnerVariant Details of the familial CFTR pathogenic variant, if known 0..1 string Definition: Observation.valueString
Value Set:

doco Documentation for this format

Options Sets

Answer options for NOS/CFReferralScenario

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#CFReferralFamilyHistory
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#CFReferralPartner

Answer options for NOS/RelatedIndividualRole

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#RoleConsultand

Answer options for NOS/RelativeOrPartnerStatus

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusAffected
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusCarrier

Profile: Questionnaire

Patient Details

  • linkId: Patient
  • Definition:: Patient
  • Answers:

Surname

Forename

DoB

NHS No

Distinct linkId from NOS/RelatedIndividual's own NHS Number (if known) item below (LN/89061-6) - that one is the relative/partner's, this is this order's own Patient.

  • linkId: LN/89061-6-patient-designNote
  • Answers:

Sex

Hospital No

Address

Postcode

Ethnicity/country of origin

Free text on this form ('please be specific, i.e. white British rather than Caucasian') rather than the coded Ethnicity ValueSet used elsewhere in this IG.

  • linkId: LN/32624-9-designNote
  • Answers:

Referring Clinician

GP Name

Surgery Address

Telephone No

Email

Ask At Order Entry Questions

  • linkId: AskAtOrderEntry
  • Answers:

Referral scenario*

Carrier testing cannot be requested for individuals under 16 years of age, as they cannot give informed consent.

  • linkId: NOS/CFReferralScenario-designNote
  • Answers:

Relative/Partner (Related Individual, NK1)

Same NK1-shaped RelatedPerson group as NW Genomic General Ask At Order Questions' own Related Individual (NK1) group (NOS/RelatedIndividual), used here under its Consultand role - the patient remains this ServiceRequest's own subject throughout, whether the Family History or Partner referral scenario applies. Status and Variant below are Cystic Fibrosis-specific additions nested alongside the shared fields, not part of the general shape.

  • linkId: NOS/RelatedIndividual-designNote
  • Answers:

Role*

Name*

Relationship to patient (relative scenario only)

Administrative Sex

Date of Birth

NHS Number (if known)

Hospital Number (Medical Record Number), if known

This order's own Patient*

Status of relative/partner

Details of the familial CFTR pathogenic variant, if known

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. Patient Definition: Patient
Value Set:
... LN/45394-4 Definition: Patient.name.family
Value Set:
... LN/45392-8 Definition: Patient.name.given
Value Set:
... LN/21112-8 Definition: Patient.birthDate
Value Set:
... LN/89061-6-patient Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/89061-6-patient-designNote Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... LN/76435-7-patient Definition: Patient.identifier:MedicalRecordNumber
Value Set:
... LN/56799-0 Definition: Patient.address.line
Value Set:
... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/32624-9 Definition: Patient.extension:ethnicCategory
Value Set:
.... LN/32624-9-designNote Value Set:
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... NOS/DepartmentAddress Definition: PractitionerRole.organization.display
Value Set:
... LN/81230-5 Definition: PractitionerRole.telecom.value
Value Set:
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
.. AskAtOrderEntry Value Set:
... NOS/CFReferralScenario Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/CFReferralScenario-designNote Value Set:
... NOS/RelatedIndividual Definition: RelatedPerson
Value Set:
.... NOS/RelatedIndividual-designNote Value Set:
.... NOS/RelatedIndividualRole Value Set:
Options: 1 option
.... HL7/NK1-2 Definition: RelatedPerson.name
Value Set:
.... HL7/NK1-3 Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
.... HL7/NK1.15 Definition: RelatedPerson.gender
Value Set: AdministrativeGender
.... HL7/NK1-16 Definition: RelatedPerson.birthDate
Value Set:
.... LN/89061-6 Definition: RelatedPerson.identifier:nhsNumber
Value Set:
.... LN/76435-7 Definition: RelatedPerson.identifier:MedicalRecordNumber
Value Set:
.... NOS/RelatedIndividual-patient Definition: RelatedPerson.patient
Value Set:
.... NOS/RelativeOrPartnerStatus Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/RelativeOrPartnerVariant Definition: Observation.valueString
Value Set:

doco Documentation for this format

Test this Questionnaire

Try this questionnaire out:

Responses for this Questionnaire

There are currently no QuestionnaireResponse instances for this Questionnaire defined in this IG.