FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-GMSWGSRareDisease.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-GMSWGSRareDisease.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease |
| Version | 2.2.0 |
| Status | unknown |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | GMS WGS Rare Disease |
| Realm | us |
| Authority | hl7 |
| Description | **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the **NHS Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the national GMS-branded form, not NW GLH-specific), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form has no Whole Genome Sequencing Test Category in the common core's Test Code branches, so its own Test Directory Clinical Indication item fills that gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on this form** - WGS analysis cannot start without at least one - see [Genomic Test Order - Common Fields We May Have Missed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed). |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire GMSWGSRareDisease
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 **NHS Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the national GMS-branded form, not NW GLH-specific), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form has no Whole Genome Sequencing Test Category in the common core's Test Code branches, so its own Test Directory Clinical Indication item fills that gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on this form** - WGS analysis cannot start without at least one - see [Genomic Test Order - Common Fields We May Have Missed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed). | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease#2.2.0 | |
  Patient | Patient | 0..1 | group | Definition: Patient |
  LN/45392-8 | Proband's first name | 1..1 | string | Definition: Patient.name.given |
| LN/45394-4 | Proband's last name | 1..1 | string | Definition: Patient.name.family |
 LN/21112-8 | Date of birth (dd/mm/yyyy) | 1..1 | date | Definition: Patient.birthDate |
| LN/76435-7 | Hospital number | 0..1 | string | Definition: Patient.identifier:MedicalRecordNumber |
 LN/46098-0 | Sex assigned at birth | 0..1 | choice | Definition: Patient.gender Value Set: AdministrativeGender |
| LN/45401-7 | Postcode | 0..1 | string | Definition: Patient.address.postalCode |
| LN/89061-6 | NHS number | 0..1 | string | Definition: Patient.identifier:nhsNumber |
  LN/89061-6-designNote | See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available. | 0..1 | display | |
| LN/32624-9 | Ethnicity | 0..1 | choice | Definition: Patient.extension:ethnicCategory Value Set: Ethnicity |
| HealthcareProfessional | Responsible clinician / consultant | 0..1 | group | Definition: PractitionerRole |
| LN/18705-4 | Name | 0..1 | string | Definition: PractitionerRole.practitioner.display |
| NOS/DepartmentAddress | Department address | 0..1 | string | Definition: PractitionerRole.organization.display |
| LN/81230-5 | Phone | 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 | |
 HL7/ORC-21-requesting | Requesting organisation | 0..1 | string | Definition: PractitionerRole.organization.identifier.value |
| HL7/ORC-21-requesting-designNote | Same concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below. | 0..1 | display | |
| NOS/GMSLaboratory | GMS laboratory (to receive sample) | 0..1 | string | Definition: ServiceRequest.performer |
| NOS/FamilyTestType | Family test | 1..1 | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
| NOS/FamilyTestType-designNote | The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'. | 0..1 | display | |
 NOS/FamilyTestOtherNumber | Number of family members being tested (if 'Other') | 0..1 | integer | Enable When: NOS/FamilyTestType = Other (NW GMSA Codes#FamilyTestOther) |
| NOS/ReasonNHSNumberNotAvailable | Reason NHS Number not available (e.g. patient not eligible, foreign national) | 0..1 | string | Definition: Patient.identifier:nhsNumber.extension |
| NOS/UrgencyReason | Reason for urgency, if requesting priority over the standard non-urgent pathway | 0..1 | string | Definition: ServiceRequest.note |
| NOS/UrgencyReason-designNote | The Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here. | 0..1 | display | |
| NOS/ReasonForDiagnosticTest | Reason for diagnostic test | 1..* | choice | Definition: Observation.valueCodeableConcept Options: 3 options |
| NOS/ReasonForDiagnosticTest-designNote | Identical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined. | 0..1 | display | |
| NOS/RODToFollow-gms-rd | Record of Discussion (ROD) attached, or to follow | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
| NOS/TestDirectoryClinicalIndication-rd | Test Directory Clinical Indication & code (reason for testing) | 1..1 | choice | Definition: ServiceRequest.code Value Set: GMS WGS Rare Disease Form - Guide Test Codes |
| NOS/TestDirectoryClinicalIndication-rd-designNote | The common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition. | 0..1 | display | |
| NOS/AdditionalPanels | Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp | 0..1 | string | |
| NOS/AdditionalPanels-designNote | No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG. | 0..1 | display | |
 NOS/ProbandAgeAtOnset | Proband's age at onset of clinical features | 0..1 | decimal | Definition: Condition.onsetAge |
| NOS/ProbandAgeAtOnset-designNote | Distinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared. | 0..1 | display | |
| NOS/SpecificRareDiseaseSuspected | State if specific rare disease is suspected or confirmed | 0..1 | string | |
| NOS/SpecificRareDiseaseSuspected-designNote | Free-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it. | 0..1 | display | |
| NOS/LifeStatus | Life status | 0..1 | choice | Definition: Patient.deceasedBoolean Options: 2 options |
| FamilyMembers | Family member(s) to be tested | 0..* | group | Definition: ServiceRequest.supportingInfo |
| FamilyMembers-designNote | The source PDF hard-codes exactly two family-member slots (form fields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS number/gender/deceased/status/ethnicity/relationship_to_proband fields, plus a matching FM1_*/FM2_* sample block further down the form) - modelled here as a proper repeating group instead, so it isn't artificially capped at two. Each repetition carries the same ServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic Clinical Referral - Consultand (RelatedPerson), but inline on this Questionnaire rather than via a separate derivedFrom/extends Questionnaire per relative. Not required for proband-only referrals. | 0..1 | display | |
 NOS/FamilyMemberReference | Family member | 0..1 | reference | Definition: ServiceRequest.supportingInfo |
| NOS/FamilyMemberForename | Forename | 0..1 | string | Definition: RelatedPerson.name.given |
| NOS/FamilyMemberSurname | Surname | 0..1 | string | Definition: RelatedPerson.name.family |
| NOS/FamilyMemberDOB | Date of birth | 0..1 | date | Definition: RelatedPerson.birthDate |
| NOS/FamilyMemberNHSNumber | NHS number (or postcode, if not known) | 0..1 | string | Definition: RelatedPerson.identifier |
| NOS/FamilyMemberGender | Sex | 0..1 | choice | Definition: RelatedPerson.gender Value Set: AdministrativeGender |
| NOS/FamilyMemberLifeStatus | Life status | 0..1 | choice | Options: 2 options |
| NOS/FamilyMemberStatus | Status | 0..1 | string | |
| NOS/FamilyMemberStatus-designNote | The source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation. | 0..1 | display | |
| NOS/FamilyMemberEthnicity | Ethnicity | 0..1 | choice | Value Set: Ethnicity |
| NOS/FamilyMemberRelationship | Relationship to proband | 0..1 | choice | Definition: RelatedPerson.relationship Value Set: UK Core Person Relationship Type |
| FamilyMembers/Specimen | Sample (this family member) - only if also using this form for sample collection | 0..1 | group | |
| FamilyMembers/Specimen-designNote | Nested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group. | 0..1 | display | |
| NOS/FamilyMemberSpecimenLocalId | Local ID / barcode | 0..1 | string | Definition: Specimen.identifier |
 NOS/FamilyMemberSpecimenCollectionDateTime | Collection date / time | 0..1 | dateTime | Definition: Specimen.collection.collectedDateTime |
| NOS/FamilyMemberSpecimenSampleType | Sample type | 0..1 | choice | Definition: Specimen.type Value Set: Specimen Type |
| NOS/FamilyMemberSpecimenVolume | Sample volume | 0..1 | decimal | Definition: Specimen.collection.quantity |
| NOS/FamilyMemberSpecimenComments | Comments | 0..1 | string | |
| GMSSpecimen | Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection) | 0..1 | group | |
| GMSSpecimen-designNote | Sample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat. | 0..1 | display | |
| HPOTerms | HPO (Human Phenotype Ontology) Terms | 1..1 | group | |
| HPOTerms-designNote | Mandatory - at least one HPO term is required, and WGS analysis and interpretation cannot commence without them. The form's own page 2 offers a "guide, not exhaustive" list of 38 example terms grouped by specialty (Cardiology, Immunology, Ophthalmology, Renal, Developmental, Neurology) - rendered as an image on the form itself, not selectable text or coded values. GMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO codes (http://purl.obolibrary.org/obo/hp.owl, release 20191108), confirmed term-by-term against the Genomics England terminology server (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup rather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT mapping built from that same verification pass. Bound below as #open-choice, so those 38 terms are offered as quick picks without preventing entry of any other HPO term/code not in this guide list. | 0..1 | display | |
| NOS/HPOTerm | HPO Term | 1..* | open-choice | Definition: Condition.code Value Set: GMS WGS Rare Disease Form - Guide HPO Terms |
| NOS/HPOTermStatus | Present / Absent / Unknown | 1..* | choice | Definition: Condition.verificationStatus Options: 3 options |
| MainContact | Main contact (if different from responsible clinician/consultant) | 0..1 | group | |
| MainContact-designNote | Responsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms. | 0..1 | display | |
| NOS/MainContactName | Name | 0..1 | string | |
| NOS/MainContactDepartmentAddress | Department address | 0..1 | string | |
| NOS/MainContactPhone | Phone | 0..1 | string | |
| NOS/MainContactEmail | 0..1 | string | ||
| Documentation for this format | ||||
Options Sets
Answer options for NOS/FamilyTestType
Answer options for NOS/ReasonForDiagnosticTest
Answer options for NOS/RODToFollow-gms-rd
Answer options for NOS/LifeStatus
Answer options for NOS/FamilyMemberLifeStatus
Answer options for NOS/HPOTermStatus
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "GMSWGSRareDisease",
"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/GMSWGSRareDisease",
"version": "2.2.0",
"title": "GMS WGS Rare Disease",
"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 **NHS Genomic Medicine Service\n(GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the\nnational GMS-branded form, not NW GLH-specific), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform has no Whole Genome Sequencing Test Category in the common core's Test\nCode branches, so its own Test Directory Clinical Indication item fills\nthat gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on\nthis form** - WGS analysis cannot start without at least one - see\n[Genomic Test Order - Common Fields We May Have\nMissed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed).",
"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",
"type": "group",
"item": [
{
"linkId": "LN/45392-8",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given",
"code": [
{
"system": "http://loinc.org",
"code": "45392-8"
}
],
"text": "Proband's first name",
"type": "string",
"required": true
},
{
"linkId": "LN/45394-4",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family",
"code": [
{
"system": "http://loinc.org",
"code": "45394-4"
}
],
"text": "Proband's last name",
"type": "string",
"required": true
},
{
"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 (dd/mm/yyyy)",
"type": "date",
"required": true
},
{
"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/46098-0",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender",
"code": [
{
"system": "http://loinc.org",
"code": "46098-0"
}
],
"text": "Sex assigned at birth",
"type": "choice",
"answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
},
{
"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/89061-6",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber",
"code": [
{
"system": "http://loinc.org",
"code": "89061-6"
}
],
"text": "NHS number",
"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-designNote",
"text": "See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available.",
"type": "display"
}
]
},
{
"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": "HealthcareProfessional",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole",
"text": "Responsible clinician / consultant",
"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": "Name",
"type": "string"
},
{
"linkId": "NOS/DepartmentAddress",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.display",
"text": "Department 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": "Phone",
"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": "HL7/ORC-21-requesting",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value",
"text": "Requesting organisation",
"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": "HL7/ORC-21-requesting-designNote",
"text": "Same concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below.",
"type": "display"
}
]
},
{
"linkId": "NOS/GMSLaboratory",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.performer",
"text": "GMS laboratory (to receive sample)",
"type": "string"
},
{
"linkId": "NOS/FamilyTestType",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyTestType"
}
],
"text": "Family test",
"type": "choice",
"required": true,
"answerOption": [
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyTestSingleton"
}
},
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyTestTrio"
}
},
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyTestOther"
}
}
],
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "NOS/FamilyTestType-designNote",
"text": "The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'.",
"type": "display"
},
{
"linkId": "NOS/FamilyTestOtherNumber",
"text": "Number of family members being tested (if 'Other')",
"type": "integer",
"enableWhen": [
{
"question": "NOS/FamilyTestType",
"operator": "=",
"answerCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyTestOther"
}
}
]
}
]
},
{
"linkId": "NOS/ReasonNHSNumberNotAvailable",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber.extension",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "ReasonNHSNumberNotAvailable"
}
],
"text": "Reason NHS Number not available (e.g. patient not eligible, foreign national)",
"type": "string"
},
{
"linkId": "NOS/UrgencyReason",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "UrgencyReason"
}
],
"text": "Reason for urgency, if requesting priority over the standard non-urgent pathway",
"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/UrgencyReason-designNote",
"text": "The Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here.",
"type": "display"
}
]
},
{
"linkId": "NOS/ReasonForDiagnosticTest",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept",
"text": "Reason for diagnostic test",
"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"
}
}
],
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "NOS/ReasonForDiagnosticTest-designNote",
"text": "Identical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined.",
"type": "display"
}
]
},
{
"linkId": "NOS/RODToFollow-gms-rd",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RODToFollow"
}
],
"text": "Record of Discussion (ROD) attached, or to follow",
"type": "choice",
"answerOption": [
{
"valueCoding": {
"system": "http://loinc.org",
"code": "LA33-6",
"display": "Attached"
}
},
{
"valueCoding": {
"system": "http://loinc.org",
"code": "LA32-8",
"display": "To follow"
}
}
]
},
{
"linkId": "NOS/TestDirectoryClinicalIndication-rd",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.code",
"text": "Test Directory Clinical Indication & code (reason for testing)",
"type": "choice",
"required": true,
"answerValueSet": "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "NOS/TestDirectoryClinicalIndication-rd-designNote",
"text": "The common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition.",
"type": "display"
}
]
},
{
"linkId": "NOS/AdditionalPanels",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "AdditionalPanels"
}
],
"text": "Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp",
"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/AdditionalPanels-designNote",
"text": "No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG.",
"type": "display"
}
]
},
{
"linkId": "NOS/ProbandAgeAtOnset",
"definition": "http://hl7.org/fhir/StructureDefinition/Condition#Condition.onsetAge",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "ProbandAgeAtOnset"
}
],
"text": "Proband's age at onset of clinical features",
"type": "decimal",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "NOS/ProbandAgeAtOnset-designNote",
"text": "Distinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared.",
"type": "display"
}
]
},
{
"linkId": "NOS/SpecificRareDiseaseSuspected",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "SpecificRareDiseaseSuspected"
}
],
"text": "State if specific rare disease is suspected or confirmed",
"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/SpecificRareDiseaseSuspected-designNote",
"text": "Free-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it.",
"type": "display"
}
]
},
{
"linkId": "NOS/LifeStatus",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.deceasedBoolean",
"text": "Life status",
"type": "choice",
"answerOption": [
{
"valueCoding": {
"system": "http://snomed.info/sct",
"code": "438949009",
"display": "Alive"
}
},
{
"valueCoding": {
"system": "http://snomed.info/sct",
"code": "419099009",
"display": "Deceased"
}
}
]
},
{
"linkId": "FamilyMembers",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo",
"text": "Family member(s) to be tested",
"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": "FamilyMembers-designNote",
"text": "The source PDF hard-codes exactly two family-member slots (form\nfields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS\nnumber/gender/deceased/status/ethnicity/relationship_to_proband\nfields, plus a matching FM1_*/FM2_* sample block further down the\nform) - modelled here as a proper repeating group instead, so it\nisn't artificially capped at two. Each repetition carries the same\nServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic\nClinical Referral - Consultand (RelatedPerson), but inline on this\nQuestionnaire rather than via a separate derivedFrom/extends\nQuestionnaire per relative. Not required for proband-only referrals.",
"type": "display"
},
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile",
"valueCanonical": "http://hl7.org/fhir/StructureDefinition/RelatedPerson"
}
],
"linkId": "NOS/FamilyMemberReference",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo",
"text": "Family member",
"type": "reference"
},
{
"linkId": "NOS/FamilyMemberForename",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.given",
"text": "Forename",
"type": "string"
},
{
"linkId": "NOS/FamilyMemberSurname",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.family",
"text": "Surname",
"type": "string"
},
{
"linkId": "NOS/FamilyMemberDOB",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate",
"text": "Date of birth",
"type": "date"
},
{
"linkId": "NOS/FamilyMemberNHSNumber",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier",
"text": "NHS number (or postcode, if not known)",
"type": "string"
},
{
"linkId": "NOS/FamilyMemberGender",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender",
"text": "Sex",
"type": "choice",
"answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
},
{
"linkId": "NOS/FamilyMemberLifeStatus",
"text": "Life status",
"type": "choice",
"answerOption": [
{
"valueCoding": {
"system": "http://snomed.info/sct",
"code": "438949009",
"display": "Alive"
}
},
{
"valueCoding": {
"system": "http://snomed.info/sct",
"code": "419099009",
"display": "Deceased"
}
}
]
},
{
"linkId": "NOS/FamilyMemberStatus",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "FamilyMemberStatus"
}
],
"text": "Status",
"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/FamilyMemberStatus-designNote",
"text": "The source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation.",
"type": "display"
}
]
},
{
"linkId": "NOS/FamilyMemberEthnicity",
"text": "Ethnicity",
"type": "choice",
"answerValueSet": "https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity"
},
{
"linkId": "NOS/FamilyMemberRelationship",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship",
"text": "Relationship to proband",
"type": "choice",
"answerValueSet": "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"
},
{
"linkId": "FamilyMembers/Specimen",
"text": "Sample (this family member) - only if also using this form for sample collection",
"type": "group",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "FamilyMembers/Specimen-designNote",
"text": "Nested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group.",
"type": "display"
},
{
"linkId": "NOS/FamilyMemberSpecimenLocalId",
"definition": "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.identifier",
"text": "Local ID / barcode",
"type": "string"
},
{
"linkId": "NOS/FamilyMemberSpecimenCollectionDateTime",
"definition": "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.collectedDateTime",
"text": "Collection date / time",
"type": "dateTime"
},
{
"linkId": "NOS/FamilyMemberSpecimenSampleType",
"definition": "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.type",
"text": "Sample type",
"type": "choice",
"answerValueSet": "https://fhir.nwgenomics.nhs.uk/ValueSet/specimen-type"
},
{
"linkId": "NOS/FamilyMemberSpecimenVolume",
"definition": "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.quantity",
"text": "Sample volume",
"type": "decimal"
},
{
"linkId": "NOS/FamilyMemberSpecimenComments",
"text": "Comments",
"type": "string"
}
]
}
]
},
{
"linkId": "GMSSpecimen",
"text": "Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)",
"type": "group",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "GMSSpecimen-designNote",
"text": "Sample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat.",
"type": "display"
}
]
},
{
"linkId": "HPOTerms",
"text": "HPO (Human Phenotype Ontology) Terms",
"type": "group",
"required": true,
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "HPOTerms-designNote",
"text": "Mandatory - at least one HPO term is required, and WGS analysis and\ninterpretation cannot commence without them.\n\nThe form's own page 2 offers a \"guide, not exhaustive\" list of 38\nexample terms grouped by specialty (Cardiology, Immunology,\nOphthalmology, Renal, Developmental, Neurology) - rendered as an\nimage on the form itself, not selectable text or coded values.\nGMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO\ncodes (http://purl.obolibrary.org/obo/hp.owl, release 20191108),\nconfirmed term-by-term against the Genomics England terminology\nserver (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup\nrather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT\nmapping built from that same verification pass. Bound below as\n#open-choice, so those 38 terms are offered as quick picks without\npreventing entry of any other HPO term/code not in this guide list.",
"type": "display"
},
{
"linkId": "NOS/HPOTerm",
"definition": "http://hl7.org/fhir/StructureDefinition/Condition#Condition.code",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "HPOTerm"
}
],
"text": "HPO Term",
"type": "open-choice",
"required": true,
"repeats": true,
"answerValueSet": "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideHPOTermsVS"
},
{
"linkId": "NOS/HPOTermStatus",
"definition": "http://hl7.org/fhir/StructureDefinition/Condition#Condition.verificationStatus",
"text": "Present / Absent / Unknown",
"type": "choice",
"required": true,
"repeats": true,
"answerOption": [
{
"valueCoding": {
"system": "http://loinc.org",
"code": "LA33-6",
"display": "Present"
}
},
{
"valueCoding": {
"system": "http://loinc.org",
"code": "LA32-8",
"display": "Absent"
}
},
{
"valueCoding": {
"system": "http://loinc.org",
"code": "LA4489-6",
"display": "Unknown"
}
}
]
}
]
},
{
"linkId": "MainContact",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "MainContact"
}
],
"text": "Main contact (if different from responsible clinician/consultant)",
"type": "group",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "MainContact-designNote",
"text": "Responsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms.",
"type": "display"
},
{
"linkId": "NOS/MainContactName",
"text": "Name",
"type": "string"
},
{
"linkId": "NOS/MainContactDepartmentAddress",
"text": "Department address",
"type": "string"
},
{
"linkId": "NOS/MainContactPhone",
"text": "Phone",
"type": "string"
},
{
"linkId": "NOS/MainContactEmail",
"text": "Email",
"type": "string"
}
]
}
]
}
]
}