NHS North West Genomics
2.2.5 - ci-build
NHS North West Genomics
2.2.5 - ci-build
NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Unknown as of 2026-11-05 |
<Questionnaire xmlns="http://hl7.org/fhir">
<id value="RareDiseaseGenomicAskAtOrderEntry"/>
<meta>
<profile
value="https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"/>
</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Questionnaire RareDiseaseGenomicAskAtOrderEntry</b></p><a name="RareDiseaseGenomicAskAtOrderEntry"> </a><a name="hcRareDiseaseGenomicAskAtOrderEntry"> </a><div style="display: inline-block; background-color: #fbffeb; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-NWQuestionnaire.html">Questionnaire</a></p></div><b>Structure</b><table border="1" cellpadding="0" cellspacing="0" class="xhtTableBorder1"><tr class="xhtRowBorder2"><th scope="col" style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The linkID for the item">LinkID</a></th><th scope="col" style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Text for the item">Text</a></th><th scope="col" style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Minimum and Maximum # of times the item can appear in the instance">Cardinality</a></th><th scope="col" style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The type of the item">Type</a></th><th scope="col" style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Additional information about the item">Description & Constraints</a><span style="float: right"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/></a></span></th></tr><tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck1.png)" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon_q_root.gif" alt="" style="background-color: white; background-color: inherit" title="QuestionnaireRoot" class="hierarchy"/> </td><td style="" class="hierarchy xhtCellBorder1">**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](StructureDefinition-GenomicTestOrder.html) - see [Order Entry
Questions](StructureDefinition-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.</td><td style="" class="hierarchy xhtCellBorder1"/><td style="" class="hierarchy xhtCellBorder1">Questionnaire</td><td style="" class="hierarchy xhtCellBorder1">https://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry#2.2.5</td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck11.png)" id="item.Patient" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> Patient</td><td style="" class="hierarchy xhtCellBorder1">Patient Details</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient">Patient</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/45394-4" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/45394-4</td><td style="" class="hierarchy xhtCellBorder1">Surname</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.name.family">Patient.name.family</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.LN/45392-8" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/45392-8</td><td style="" class="hierarchy xhtCellBorder1">Forename</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.name.given">Patient.name.given</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/21112-8" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-date.png" alt="" style="background-color: white; background-color: inherit" title="date" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/21112-8</td><td style="" class="hierarchy xhtCellBorder1">D.O.B.</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-date">date</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.birthDate">Patient.birthDate</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.LN/46098-0" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/46098-0</td><td style="" class="hierarchy xhtCellBorder1">Biological Sex</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.gender">Patient.gender</a><br/>Value Set: <a href="http://hl7.org/fhir/R4/valueset-administrative-gender.html">AdministrativeGender</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck111.png)" id="item.NOS/GenderIdentity" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>NOS/GenderIdentity</td><td style="" class="hierarchy xhtCellBorder1">Gender Identity</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1"/></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck1100.png)" id="item.NOS/GenderIdentity-designNote" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / NOS/GenderIdentity / </span>NOS/GenderIdentity-designNote</td><td style="" class="hierarchy xhtCellBorder1">No clean FHIR field identified - distinct from Biological Sex on this form's own layout.</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="" class="hierarchy xhtCellBorder1"/></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/56799-0" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/56799-0</td><td style="" class="hierarchy xhtCellBorder1">Address</td><td style="" class="hierarchy xhtCellBorder1">0..*</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.address.line">Patient.address.line</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.LN/45401-7" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/45401-7</td><td style="" class="hierarchy xhtCellBorder1">Postcode</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.address.postalCode">Patient.address.postalCode</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/32624-9" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="" style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/32624-9</td><td style="" class="hierarchy xhtCellBorder1">Ethnicity</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.extension:ethnicCategory">Patient.extension:ethnicCategory</a><br/>Value Set: <a href="ValueSet-ethnicity.html">Ethnicity</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.LN/89061-6" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/89061-6</td><td style="" class="hierarchy xhtCellBorder1">NHS No</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.identifier:nhsNumber">Patient.identifier:nhsNumber</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck100.png)" id="item.LN/76435-7" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">Patient / </span>LN/76435-7</td><td style="" class="hierarchy xhtCellBorder1">Hospital No</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/patient.html#Patient.identifier:MedicalRecordNumber">Patient.identifier:MedicalRecordNumber</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck11.png)" id="item.HealthcareProfessional" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> HealthcareProfessional</td><td style="" class="hierarchy xhtCellBorder1">Referring Clinician/Healthcare Professional</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/practitionerrole.html#PractitionerRole">PractitionerRole</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/18705-4" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / </span>LN/18705-4</td><td style="" class="hierarchy xhtCellBorder1">Consultant/Clinician (in full)</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/practitionerrole.html#PractitionerRole.practitioner.display">PractitionerRole.practitioner.display</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.HL7/ORC-21" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / </span>HL7/ORC-21</td><td style="" class="hierarchy xhtCellBorder1">Hospital/Surgery (in full)</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/practitionerrole.html#PractitionerRole.organization.identifier.value">PractitionerRole.organization.identifier.value</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck110.png)" id="item.LN/18707-0" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="" style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / </span>LN/18707-0</td><td style="" class="hierarchy xhtCellBorder1">Clinical Specialty/Department</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/practitionerrole.html#PractitionerRole.specialty.coding.code">PractitionerRole.specialty.coding.code</a><br/>Value Set: <a href="https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&canonical=https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode">UK Core Practice Setting Code</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck110.png)" id="item.LN/89058-2" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / </span>LN/89058-2</td><td style="" class="hierarchy xhtCellBorder1">E-mail/Tel</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/practitionerrole.html#PractitionerRole.telecom.value">PractitionerRole.telecom.value</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck101.png)" id="item.NOS/RequestedByCcReportTo" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / </span>NOS/RequestedByCcReportTo</td><td style="" class="hierarchy xhtCellBorder1">Requested by/Cc. Report to</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1"/></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck1000.png)" id="item.NOS/RequestedByCcReportTo-designNote" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">HealthcareProfessional / NOS/RequestedByCcReportTo / </span>NOS/RequestedByCcReportTo-designNote</td><td style="" class="hierarchy xhtCellBorder1">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.</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="" class="hierarchy xhtCellBorder1"/></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck01.png)" id="item.AskAtOrderEntry" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="" style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> AskAtOrderEntry</td><td style="" class="hierarchy xhtCellBorder1">Ask At Order Entry Questions</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="" class="hierarchy xhtCellBorder1"/></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck010.png)" id="item.NOS/ClinicalUtility" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">AskAtOrderEntry / </span>NOS/ClinicalUtility</td><td style="" class="hierarchy xhtCellBorder1">Clinical utility</td><td style="" class="hierarchy xhtCellBorder1">1..*</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.valueCodeableConcept">Observation.valueCodeableConcept</a><br/>Options: <a href="#opt-item.NOS/ClinicalUtility">3 options</a></td></tr>
<tr class="xhtRowBorder1 xhtRowEven"><td style="background-image: url(tbl_bck010.png)" id="item.NOS/TargetedFamilialTesting" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-boolean.png" alt="" style="background-color: white; background-color: inherit" title="boolean" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">AskAtOrderEntry / </span>NOS/TargetedFamilialTesting</td><td style="" class="hierarchy xhtCellBorder1">Targeted familial testing?</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-boolean">boolean</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.valueBoolean">Observation.valueBoolean</a></td></tr>
<tr class="xhtRowBorder1 xhtRowOdd"><td style="background-image: url(tbl_bck000.png)" id="item.NOS/TargetedFamilialVariant" class="hierarchy xhtCellBorder1 xhtCellNoWrap"><img src="tbl_spacer.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="" style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="" style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> <span style="position: absolute; width: 1px; height: 1px; padding: 0; margin: -1px; overflow: hidden; clip: rect(0, 0, 0, 0); white-space: nowrap; border: 0" class="sr-only">AskAtOrderEntry / </span>NOS/TargetedFamilialVariant</td><td style="" class="hierarchy xhtCellBorder1">Known familial variant and affected relative</td><td style="" class="hierarchy xhtCellBorder1">0..1</td><td style="" class="hierarchy xhtCellBorder1"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="" class="hierarchy xhtCellBorder1">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.valueString">Observation.valueString</a><br/>Enable When: <span><a href="#item.NOS/TargetedFamilialTesting">NOS/TargetedFamilialTesting</a> = true</span></td></tr>
<tr><td colspan="5" class="hierarchy"><br/><a href="https://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/> Documentation for this format</a></td></tr></table><hr/><p><b>Options Sets</b></p><a name="opt-item.NOS/ClinicalUtility"> </a><p><b>Answer options for NOS/ClinicalUtility </b></p><ul><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPatientManagement</li><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityReproductiveDecision</li><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPredictiveTesting</li></ul></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm">
<valueCoding>
<system value="http://hl7.org/fhir/version-algorithm"/>
<code value="semver"/>
</valueCoding>
</extension>
<url
value="https://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry"/>
<version value="2.2.5"/>
<title value="Rare Disease Genomic Testing Ask At Order Entry Questions"/>
<status value="unknown"/>
<date value="2026-11-05T06:40:21+00:00"/>
<publisher value="NHS North West Genomics"/>
<contact>
<telecom>
<system value="url"/>
<value value="https://www.nwgenomics.nhs.uk/contact-us"/>
</telecom>
</contact>
<description
value="**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](StructureDefinition-GenomicTestOrder.html) - see [Order Entry
Questions](StructureDefinition-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."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="GB"/>
<display value="United Kingdom of Great Britain and Northern Ireland"/>
</coding>
</jurisdiction>
<item>
<linkId value="Patient"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient"/>
<text value="Patient Details"/>
<type value="group"/>
<item>
<linkId value="LN/45394-4"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family"/>
<code>
<system value="http://loinc.org"/>
<code value="45394-4"/>
</code>
<text value="Surname"/>
<type value="string"/>
</item>
<item>
<linkId value="LN/45392-8"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given"/>
<code>
<system value="http://loinc.org"/>
<code value="45392-8"/>
</code>
<text value="Forename"/>
<type value="string"/>
</item>
<item>
<linkId value="LN/21112-8"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate"/>
<code>
<system value="http://loinc.org"/>
<code value="21112-8"/>
</code>
<text value="D.O.B."/>
<type value="date"/>
</item>
<item>
<linkId value="LN/46098-0"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender"/>
<code>
<system value="http://loinc.org"/>
<code value="46098-0"/>
</code>
<text value="Biological Sex"/>
<type value="choice"/>
<answerValueSet
value="http://hl7.org/fhir/ValueSet/administrative-gender"/>
</item>
<item>
<linkId value="NOS/GenderIdentity"/>
<text value="Gender Identity"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
</coding>
</valueCodeableConcept>
</extension>
<linkId value="NOS/GenderIdentity-designNote"/>
<text
value="No clean FHIR field identified - distinct from Biological Sex on this form's own layout."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LN/56799-0"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.line"/>
<code>
<system value="http://loinc.org"/>
<code value="56799-0"/>
</code>
<text value="Address"/>
<type value="string"/>
<repeats value="true"/>
</item>
<item>
<linkId value="LN/45401-7"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.postalCode"/>
<code>
<system value="http://loinc.org"/>
<code value="45401-7"/>
</code>
<text value="Postcode"/>
<type value="string"/>
</item>
<item>
<linkId value="LN/32624-9"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory"/>
<code>
<system value="http://loinc.org"/>
<code value="32624-9"/>
</code>
<text value="Ethnicity"/>
<type value="choice"/>
<answerValueSet
value="https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity"/>
</item>
<item>
<linkId value="LN/89061-6"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber"/>
<code>
<system value="http://loinc.org"/>
<code value="89061-6"/>
</code>
<text value="NHS No"/>
<type value="string"/>
</item>
<item>
<linkId value="LN/76435-7"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber"/>
<code>
<system value="http://loinc.org"/>
<code value="76435-7"/>
</code>
<text value="Hospital No"/>
<type value="string"/>
</item>
</item>
<item>
<linkId value="HealthcareProfessional"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole"/>
<text value="Referring Clinician/Healthcare Professional"/>
<type value="group"/>
<item>
<linkId value="LN/18705-4"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.display"/>
<code>
<system value="http://loinc.org"/>
<code value="18705-4"/>
</code>
<text value="Consultant/Clinician (in full)"/>
<type value="string"/>
</item>
<item>
<linkId value="HL7/ORC-21"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value"/>
<text value="Hospital/Surgery (in full)"/>
<type value="string"/>
</item>
<item>
<linkId value="LN/18707-0"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code"/>
<code>
<system value="http://loinc.org"/>
<code value="18707-0"/>
</code>
<text value="Clinical Specialty/Department"/>
<type value="choice"/>
<answerValueSet
value="https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode"/>
</item>
<item>
<linkId value="LN/89058-2"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value"/>
<code>
<system value="http://loinc.org"/>
<code value="89058-2"/>
<display value="Contact email address"/>
</code>
<text value="E-mail/Tel"/>
<type value="string"/>
</item>
<item>
<linkId value="NOS/RequestedByCcReportTo"/>
<text value="Requested by/Cc. Report to"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
</coding>
</valueCodeableConcept>
</extension>
<linkId value="NOS/RequestedByCcReportTo-designNote"/>
<text
value="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 value="display"/>
</item>
</item>
</item>
<item>
<linkId value="AskAtOrderEntry"/>
<text value="Ask At Order Entry Questions"/>
<type value="group"/>
<item>
<linkId value="NOS/ClinicalUtility"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/>
<text value="Clinical utility"/>
<type value="choice"/>
<required value="true"/>
<repeats value="true"/>
<answerOption>
<valueCoding>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="ClinicalUtilityPatientManagement"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="ClinicalUtilityReproductiveDecision"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="ClinicalUtilityPredictiveTesting"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="NOS/TargetedFamilialTesting"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean"/>
<text value="Targeted familial testing?"/>
<type value="boolean"/>
</item>
<item>
<linkId value="NOS/TargetedFamilialVariant"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString"/>
<code>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="TargetedFamilialVariant"/>
</code>
<text value="Known familial variant and affected relative"/>
<type value="string"/>
<enableWhen>
<question value="NOS/TargetedFamilialTesting"/>
<operator value="="/>
<answerBoolean value="true"/>
</enableWhen>
</item>
</item>
</Questionnaire>