FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-CysticFibrosisCarrierAskAtOrderEntry.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-CysticFibrosisCarrierAskAtOrderEntry.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/CysticFibrosisCarrierAskAtOrderEntry |
| Version | 2.2.0 |
| Status | unknown |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | Cystic Fibrosis Carrier Testing Ask At Order Entry Questions |
| Realm | us |
| Authority | hl7 |
| Description | **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. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire CysticFibrosisCarrierAskAtOrderEntry
Profile: Questionnaire
| LinkID | Text | Cardinality | Type | Description & Constraints |
|---|---|---|---|---|
  | **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 |
  LN/45394-4 | Surname | 0..1 | string | Definition: Patient.name.family |
| LN/45392-8 | Forename | 0..1 | string | Definition: Patient.name.given |
 LN/21112-8 | DoB | 0..1 | date | Definition: Patient.birthDate |
| LN/89061-6-patient | NHS No | 0..1 | string | Definition: Patient.identifier:nhsNumber |
  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 | |
 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 |
| LN/56799-0 | Address | 0..1 | string | Definition: Patient.address.line |
| LN/45401-7 | Postcode | 0..1 | string | Definition: Patient.address.postalCode |
| LN/32624-9 | Ethnicity/country of origin | 0..1 | string | Definition: Patient.extension:ethnicCategory |
 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 | |
| HealthcareProfessional | Referring Clinician | 0..1 | group | Definition: PractitionerRole |
| LN/18705-4 | GP Name | 0..1 | string | Definition: PractitionerRole.practitioner.display |
| NOS/DepartmentAddress | Surgery Address | 0..1 | string | Definition: PractitionerRole.organization.display |
| LN/81230-5 | Telephone No | 0..1 | string | Definition: PractitionerRole.telecom.value |
| LN/89058-2 | 0..1 | string | Definition: PractitionerRole.telecom.value | |
| AskAtOrderEntry | Ask At Order Entry Questions | 0..1 | group | |
| NOS/CFReferralScenario | Referral scenario | 1..1 | choice | Definition: Observation.valueCodeableConcept 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 | |
| NOS/RelatedIndividual | Relative/Partner (Related Individual, NK1) | 0..* | group | Definition: RelatedPerson |
| 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 | |
| NOS/RelatedIndividualRole | Role | 1..1 | choice | Options: 1 option |
| HL7/NK1-2 | Name | 1..1 | string | Definition: RelatedPerson.name |
| 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 |
| LN/89061-6 | NHS Number (if known) | 0..1 | string | Definition: RelatedPerson.identifier:nhsNumber |
| LN/76435-7 | Hospital Number (Medical Record Number), if known | 0..1 | string | Definition: RelatedPerson.identifier:MedicalRecordNumber |
 NOS/RelatedIndividual-patient | This order's own Patient | 1..1 | reference | Definition: RelatedPerson.patient |
| NOS/RelativeOrPartnerStatus | Status of relative/partner | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
| NOS/RelativeOrPartnerVariant | Details of the familial CFTR pathogenic variant, if known | 0..1 | string | Definition: Observation.valueString |
| Documentation for this format | ||||
Options Sets
Answer options for NOS/CFReferralScenario
Answer options for NOS/RelatedIndividualRole
Answer options for NOS/RelativeOrPartnerStatus
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "CysticFibrosisCarrierAskAtOrderEntry",
"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/CysticFibrosisCarrierAskAtOrderEntry",
"version": "2.2.0",
"title": "Cystic Fibrosis Carrier Testing 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 NW GLH paper **Request for Genetic\nCystic Fibrosis (CF) Carrier Testing (CFTR Gene)** form, used alongside the\n[common core order form](Questionnaire-GenomicTestOrder.html) - see [Order\nEntry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions).\nUnlike the other paper forms, this one is specifically for use by **General\nPractitioners** rather than hospital clinicians, and structures one of two\nmutually exclusive referral scenarios: a family history of CF, or a partner\nwho is affected/a carrier.",
"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": "DoB",
"type": "date"
},
{
"linkId": "LN/89061-6-patient",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber",
"code": [
{
"system": "http://loinc.org",
"code": "89061-6"
}
],
"text": "NHS No",
"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": "LN/89061-6-patient-designNote",
"text": "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.",
"type": "display"
}
]
},
{
"linkId": "LN/46098-0",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender",
"code": [
{
"system": "http://loinc.org",
"code": "46098-0"
}
],
"text": "Sex",
"type": "choice",
"answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
},
{
"linkId": "LN/76435-7-patient",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber",
"code": [
{
"system": "http://loinc.org",
"code": "76435-7"
}
],
"text": "Hospital No",
"type": "string"
},
{
"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/32624-9",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory",
"code": [
{
"system": "http://loinc.org",
"code": "32624-9"
}
],
"text": "Ethnicity/country of origin",
"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": "LN/32624-9-designNote",
"text": "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.",
"type": "display"
}
]
}
]
},
{
"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": "GP Name",
"type": "string"
},
{
"linkId": "NOS/DepartmentAddress",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.display",
"text": "Surgery Address",
"type": "string"
},
{
"linkId": "LN/81230-5",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value",
"code": [
{
"system": "http://loinc.org",
"code": "81230-5"
}
],
"text": "Telephone No",
"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/CFReferralScenario",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "CFReferralScenario"
}
],
"text": "Referral scenario",
"type": "choice",
"required": true,
"answerOption": [
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "CFReferralFamilyHistory"
}
},
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "CFReferralPartner"
}
}
],
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "NOS/CFReferralScenario-designNote",
"text": "Carrier testing cannot be requested for individuals under 16 years of age, as they cannot give informed consent.",
"type": "display"
}
]
},
{
"linkId": "NOS/RelatedIndividual",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson",
"text": "Relative/Partner (Related Individual, NK1)",
"type": "group",
"repeats": 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/RelatedIndividual-designNote",
"text": "Same NK1-shaped RelatedPerson group as NW Genomic General Ask At\nOrder Questions' own Related Individual (NK1) group\n(NOS/RelatedIndividual), used here under its Consultand role - the\npatient remains this ServiceRequest's own subject throughout,\nwhether the Family History or Partner referral scenario applies.\nStatus and Variant below are Cystic Fibrosis-specific additions\nnested alongside the shared fields, not part of the general shape.",
"type": "display"
},
{
"linkId": "NOS/RelatedIndividualRole",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RelatedIndividualRole"
}
],
"text": "Role",
"type": "choice",
"required": true,
"answerOption": [
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RoleConsultand"
}
}
]
},
{
"linkId": "HL7/NK1-2",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name",
"text": "Name",
"type": "string",
"required": true
},
{
"linkId": "HL7/NK1-3",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship",
"text": "Relationship to patient (relative scenario only)",
"type": "choice",
"answerValueSet": "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"
},
{
"linkId": "HL7/NK1.15",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender",
"text": "Administrative Sex",
"type": "choice",
"answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
},
{
"linkId": "HL7/NK1-16",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate",
"text": "Date of Birth",
"type": "date"
},
{
"linkId": "LN/89061-6",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:nhsNumber",
"code": [
{
"system": "http://loinc.org",
"code": "89061-6"
}
],
"text": "NHS Number (if known)",
"type": "string",
"required": false
},
{
"linkId": "LN/76435-7",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:MedicalRecordNumber",
"code": [
{
"system": "http://loinc.org",
"code": "76435-7"
}
],
"text": "Hospital Number (Medical Record Number), if known",
"type": "string",
"required": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile",
"valueCanonical": "http://hl7.org/fhir/StructureDefinition/Patient"
}
],
"linkId": "NOS/RelatedIndividual-patient",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.patient",
"text": "This order's own Patient",
"type": "reference",
"required": true
},
{
"linkId": "NOS/RelativeOrPartnerStatus",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RelativeOrPartnerStatus"
}
],
"text": "Status of relative/partner",
"type": "choice",
"answerOption": [
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "GeneticStatusAffected"
}
},
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "GeneticStatusCarrier"
}
}
]
},
{
"linkId": "NOS/RelativeOrPartnerVariant",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RelativeOrPartnerVariant"
}
],
"text": "Details of the familial CFTR pathogenic variant, if known",
"type": "string"
}
]
}
]
}
]
}