FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-RareDiseaseGenomicAskAtOrderEntry.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-RareDiseaseGenomicAskAtOrderEntry.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry |
| Version | 2.2.0 |
| Status | unknown |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | Rare Disease Genomic 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 **Genomic Testing Request Form - Rare Disease** (DOC4900), the generic Rare Disease paper order form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire RareDiseaseGenomicAskAtOrderEntry
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 **Genomic Testing Request Form - Rare Disease** (DOC4900), the generic Rare Disease paper order form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for. | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry#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 | D.O.B. | 0..1 | date | Definition: Patient.birthDate |
 LN/46098-0 | Biological Sex | 0..1 | choice | Definition: Patient.gender Value Set: AdministrativeGender |
| NOS/GenderIdentity | Gender Identity | 0..1 | string | |
  NOS/GenderIdentity-designNote | No clean FHIR field identified - distinct from Biological Sex on this form's own layout. | 0..1 | display | |
| LN/56799-0 | Address | 0..* | string | Definition: Patient.address.line |
| LN/45401-7 | Postcode | 0..1 | string | Definition: Patient.address.postalCode |
| LN/32624-9 | Ethnicity | 0..1 | choice | Definition: Patient.extension:ethnicCategory Value Set: Ethnicity |
| LN/89061-6 | NHS No | 0..1 | string | Definition: Patient.identifier:nhsNumber |
| LN/76435-7 | Hospital No | 0..1 | string | Definition: Patient.identifier:MedicalRecordNumber |
| HealthcareProfessional | Referring Clinician/Healthcare Professional | 0..1 | group | Definition: PractitionerRole |
| LN/18705-4 | Consultant/Clinician (in full) | 0..1 | string | Definition: PractitionerRole.practitioner.display |
| HL7/ORC-21 | Hospital/Surgery (in full) | 0..1 | string | Definition: PractitionerRole.organization.identifier.value |
| LN/18707-0 | Clinical Specialty/Department | 0..1 | choice | Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code |
| LN/89058-2 | E-mail/Tel | 0..1 | string | Definition: PractitionerRole.telecom.value |
| NOS/RequestedByCcReportTo | Requested by/Cc. Report to | 0..1 | string | |
 NOS/RequestedByCcReportTo-designNote | 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. | 0..1 | display | |
| AskAtOrderEntry | Ask At Order Entry Questions | 0..1 | group | |
| NOS/ClinicalUtility | Clinical utility | 1..* | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
 NOS/TargetedFamilialTesting | Targeted familial testing? | 0..1 | boolean | Definition: Observation.valueBoolean |
| NOS/TargetedFamilialVariant | Known familial variant and affected relative | 0..1 | string | Definition: Observation.valueString Enable When: NOS/TargetedFamilialTesting = true |
| Documentation for this format | ||||
Options Sets
Answer options for NOS/ClinicalUtility
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "RareDiseaseGenomicAskAtOrderEntry",
"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/RareDiseaseGenomicAskAtOrderEntry",
"version": "2.2.0",
"title": "Rare Disease Genomic 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 **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
}
]
}
]
}
]
}