NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Draft as of 2026-09-20 |
<Questionnaire xmlns="http://hl7.org/fhir">
<id value="GeneticReferralConsultand"/>
<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 GeneticReferralConsultand</b></p><a name="GeneticReferralConsultand"> </a><a name="hcGeneticReferralConsultand"> </a><div style="display: inline-block; background-color: #d9e0e7; 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" style="border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;"><tr style="border: 2px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top"><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The linkID for the item">LinkID</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Text for the item">Text</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><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 style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The type of the item">Type</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><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 style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)" class="hierarchy"><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="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">**For analysis purposes only - not an active or planned project.** See
[Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for
the common core this extends.
Structured detail for a named **consultand** - an at-risk relative of the
proband (the patient on the referral itself) being referred for genetic
counselling and/or cascade testing - see [Genetic
Referrals](GeneticReferrals.html) for the Proband/Consultand distinction.
This represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to
FHIR `RelatedPerson`.
This is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional
Ask At Order Entry Questions - Related Individual
(NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html)
(`NOS/RelatedIndividual`), generalised from this Questionnaire's own
original Consultand-only shape - a **Role** item now states whether this
entry is a **Consultand** (the usual case here) or a **Proband** (the
reverse direction, used when the referral's own Patient is itself a family
member rather than the proband - see [WGS Local Test
Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband`
for the same pattern applied to a lab order rather than a referral).
**Scope note:** general family history (who else is affected, the wider
pedigree) remains in the unstructured family letter referenced from [Genetic
Clinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history)
- this Questionnaire only structures the part of that information that
identifies a *named* consultand who is themselves being referred, following
the same shape as an `NK1` segment.</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Questionnaire</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticReferralConsultand#2.2.0</td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck01.png)" id="item.NOS/RelatedIndividual" class="hierarchy"><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: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> NOS/RelatedIndividual</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Related Individual (NK1)</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..*</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson">RelatedPerson</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.NOS/RelatedIndividual-designNote" class="hierarchy"><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-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> NOS/RelatedIndividual-designNote</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here.</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.NOS/RelatedIndividualRole" class="hierarchy"><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"/> NOS/RelatedIndividualRole</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Role</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">1..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item.NOS/RelatedIndividualRole">2 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.HL7/NK1-2" class="hierarchy"><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-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> HL7/NK1-2</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Name</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">1..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.name">RelatedPerson.name</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck011.png)" id="item.HL7/NK1-3" class="hierarchy"><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"/> HL7/NK1-3</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Relationship to Proband</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">1..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.relationship">RelatedPerson.relationship</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-PersonRelationshipType">UK Core Person Relationship Type</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0100.png)" id="item.HL7/NK1-3-designNote" class="hierarchy"><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_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: white; background-color: inherit" title="display" class="hierarchy"/> HL7/NK1-3-designNote</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH "mother"), the same direction as when Role = Consultand.</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.HL7/NK1.15" class="hierarchy"><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"/> HL7/NK1.15</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Administrative Sex</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.gender">RelatedPerson.gender</a><br/>Value Set: <a href="http://hl7.org/fhir/R4/valueset-administrative-gender.html">AdministrativeGender</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.HL7/NK1-16" class="hierarchy"><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-date.png" alt="." style="background-color: white; background-color: inherit" title="date" class="hierarchy"/> HL7/NK1-16</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Date of Birth</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-date">date</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.birthDate">RelatedPerson.birthDate</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.LN/89061-6" class="hierarchy"><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-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> LN/89061-6</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">NHS Number (if known)</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.identifier:nhsNumber">RelatedPerson.identifier:nhsNumber</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.LN/76435-7" class="hierarchy"><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-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> LN/76435-7</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Hospital Number (Medical Record Number), if known</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.identifier:MedicalRecordNumber">RelatedPerson.identifier:MedicalRecordNumber</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck001.png)" id="item.NOS/RelatedIndividual-patient" class="hierarchy"><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-reference.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="reference" class="hierarchy"/> NOS/RelatedIndividual-patient</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This referral's own Patient</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">1..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-reference">reference</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/relatedperson.html#RelatedPerson.patient">RelatedPerson.patient</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0000.png)" id="item.NOS/RelatedIndividual-patient-designNote" class="hierarchy"><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_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: white; background-color: inherit" title="display" class="hierarchy"/> NOS/RelatedIndividual-patient-designNote</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order.</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></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/RelatedIndividualRole"> </a><p><b>Answer options for NOS/RelatedIndividualRole </b></p><ul><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#RoleConsultand</li><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#RoleProband</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/GeneticReferralConsultand"/>
<version value="2.2.0"/>
<title value="Genetic Clinical Referral - Consultand (RelatedPerson)"/>
<derivedFrom
value="https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral">🔗
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-derivationType">
<valueCoding>
<system value="http://hl7.org/fhir/questionnaire-derivationType"/>
<code value="extends"/>
</valueCoding>
</extension>
</derivedFrom>
<status value="draft"/>
<date value="2026-09-20T05:53:36+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.** See
[Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for
the common core this extends.
Structured detail for a named **consultand** - an at-risk relative of the
proband (the patient on the referral itself) being referred for genetic
counselling and/or cascade testing - see [Genetic
Referrals](GeneticReferrals.html) for the Proband/Consultand distinction.
This represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to
FHIR `RelatedPerson`.
This is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional
Ask At Order Entry Questions - Related Individual
(NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html)
(`NOS/RelatedIndividual`), generalised from this Questionnaire's own
original Consultand-only shape - a **Role** item now states whether this
entry is a **Consultand** (the usual case here) or a **Proband** (the
reverse direction, used when the referral's own Patient is itself a family
member rather than the proband - see [WGS Local Test
Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband`
for the same pattern applied to a lab order rather than a referral).
**Scope note:** general family history (who else is affected, the wider
pedigree) remains in the unstructured family letter referenced from [Genetic
Clinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history)
- this Questionnaire only structures the part of that information that
identifies a *named* consultand who is themselves being referred, following
the same shape as an `NK1` segment."/>
<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="NOS/RelatedIndividual"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson"/>
<text value="Related Individual (NK1)"/>
<type value="group"/>
<repeats value="true"/>
<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/RelatedIndividual-designNote"/>
<text
value="Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here."/>
<type value="display"/>
</item>
<item>
<linkId value="NOS/RelatedIndividualRole"/>
<code>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="RelatedIndividualRole"/>
</code>
<text value="Role"/>
<type value="choice"/>
<required value="true"/>
<answerOption>
<valueCoding>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="RoleConsultand"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<code value="RoleProband"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="HL7/NK1-2"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name"/>
<text value="Name"/>
<type value="string"/>
<required value="true"/>
</item>
<item>
<linkId value="HL7/NK1-3"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship"/>
<text value="Relationship to Proband"/>
<type value="choice"/>
<required value="true"/>
<answerValueSet
value="https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"/>
<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="HL7/NK1-3-designNote"/>
<text
value="Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH "mother"), the same direction as when Role = Consultand."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="HL7/NK1.15"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender"/>
<text value="Administrative Sex"/>
<type value="choice"/>
<answerValueSet
value="http://hl7.org/fhir/ValueSet/administrative-gender"/>
</item>
<item>
<linkId value="HL7/NK1-16"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate"/>
<text value="Date of Birth"/>
<type value="date"/>
</item>
<item>
<linkId value="LN/89061-6"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:nhsNumber"/>
<code>
<system value="http://loinc.org"/>
<code value="89061-6"/>
</code>
<text value="NHS Number (if known)"/>
<type value="string"/>
<required value="false"/>
</item>
<item>
<linkId value="LN/76435-7"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:MedicalRecordNumber"/>
<code>
<system value="http://loinc.org"/>
<code value="76435-7"/>
</code>
<text value="Hospital Number (Medical Record Number), if known"/>
<type value="string"/>
<required value="false"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile">
<valueCanonical
value="http://hl7.org/fhir/StructureDefinition/Patient"/>
</extension>
<linkId value="NOS/RelatedIndividual-patient"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.patient"/>
<text value="This referral's own Patient"/>
<type value="reference"/>
<required value="true"/>
<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/RelatedIndividual-patient-designNote"/>
<text
value="The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order."/>
<type value="display"/>
</item>
</item>
</item>
</Questionnaire>