NHS North West Genomics
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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

: GMS WGS Rare Disease

Unknown as of 2026-09-20

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<Questionnaire xmlns="http://hl7.org/fhir">
  <id value="GMSWGSRareDisease"/>
  <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 GMSWGSRareDisease</b></p><a name="GMSWGSRareDisease"> </a><a name="hcGMSWGSRareDisease"> </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 &amp; 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.**

**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).</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/GMSWGSRareDisease#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_bck11.png)" id="item.Patient" class="hierarchy"><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="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">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">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-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/patient.html#Patient">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_bck110.png)" id="item.LN/45392-8" class="hierarchy"><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"/> LN/45392-8</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">Proband's first 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/patient.html#Patient.name.given">Patient.name.given</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_bck110.png)" id="item.LN/45394-4" class="hierarchy"><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"/> LN/45394-4</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">Proband's last name</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-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/patient.html#Patient.name.family">Patient.name.family</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_bck110.png)" id="item.LN/21112-8" class="hierarchy"><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"/> LN/21112-8</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 (dd/mm/yyyy)</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-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/patient.html#Patient.birthDate">Patient.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_bck110.png)" id="item.LN/76435-7" class="hierarchy"><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"/> LN/76435-7</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">Hospital number</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/patient.html#Patient.identifier:MedicalRecordNumber">Patient.identifier:MedicalRecordNumber</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_bck110.png)" id="item.LN/46098-0" class="hierarchy"><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"/> LN/46098-0</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">Sex assigned at 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-choice">choice</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/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 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_bck110.png)" id="item.LN/45401-7" class="hierarchy"><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"/> LN/45401-7</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">Postcode</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/patient.html#Patient.address.postalCode">Patient.address.postalCode</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_bck111.png)" id="item.LN/89061-6" class="hierarchy"><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"/> LN/89061-6</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">NHS number</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/patient.html#Patient.identifier:nhsNumber">Patient.identifier:nhsNumber</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_bck1100.png)" id="item.LN/89061-6-designNote" class="hierarchy"><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"/> LN/89061-6-designNote</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">See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available.</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-display">display</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"/></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_bck100.png)" id="item.LN/32624-9" class="hierarchy"><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-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> LN/32624-9</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">Ethnicity</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-choice">choice</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/patient.html#Patient.extension:ethnicCategory">Patient.extension:ethnicCategory</a><br/>Value Set: <a href="ValueSet-ethnicity.html">Ethnicity</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_bck11.png)" id="item.HealthcareProfessional" class="hierarchy"><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="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Responsible clinician / consultant</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-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/practitionerrole.html#PractitionerRole">PractitionerRole</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_bck110.png)" id="item.LN/18705-4" class="hierarchy"><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"/> LN/18705-4</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">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/practitionerrole.html#PractitionerRole.practitioner.display">PractitionerRole.practitioner.display</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_bck110.png)" id="item.NOS/DepartmentAddress" class="hierarchy"><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"/> NOS/DepartmentAddress</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">Department address</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/practitionerrole.html#PractitionerRole.organization.display">PractitionerRole.organization.display</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_bck110.png)" id="item.LN/81230-5" class="hierarchy"><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"/> LN/81230-5</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">Phone</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/practitionerrole.html#PractitionerRole.telecom.value">PractitionerRole.telecom.value</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_bck100.png)" id="item.LN/89058-2" class="hierarchy"><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: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> LN/89058-2</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">Email</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/practitionerrole.html#PractitionerRole.telecom.value">PractitionerRole.telecom.value</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_bck01.png)" id="item.AskAtOrderEntry" 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: white; background-color: inherit" title="group" class="hierarchy"/> AskAtOrderEntry</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">Ask At Order Entry Questions</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-group">group</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_bck011.png)" id="item.HL7/ORC-21-requesting" 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"/> HL7/ORC-21-requesting</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">Requesting organisation</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/practitionerrole.html#PractitionerRole.organization.identifier.value">PractitionerRole.organization.identifier.value</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/ORC-21-requesting-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/ORC-21-requesting-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">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.</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/GMSLaboratory" 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"/> NOS/GMSLaboratory</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">GMS laboratory (to receive sample)</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/servicerequest.html#ServiceRequest.performer">ServiceRequest.performer</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_bck011.png)" id="item.NOS/FamilyTestType" 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: white; background-color: inherit" title="coding" class="hierarchy"/> NOS/FamilyTestType</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">Family test</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-choice">choice</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/observation.html#Observation.valueCodeableConcept">Observation.valueCodeableConcept</a><br/>Options: <a href="#opt-item.NOS/FamilyTestType">3 options</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_bck0110.png)" id="item.NOS/FamilyTestType-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.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"/> NOS/FamilyTestType-designNote</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">The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'.</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-display">display</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"/></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.NOS/FamilyTestOtherNumber" 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-integer.png" alt="." style="background-color: white; background-color: inherit" title="integer" class="hierarchy"/> NOS/FamilyTestOtherNumber</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">Number of family members being tested (if 'Other')</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-integer">integer</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">Enable When: <span><a href="#item.NOS/FamilyTestType">NOS/FamilyTestType</a> = Other (NW GMSA Codes#FamilyTestOther)</span></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.NOS/ReasonNHSNumberNotAvailable" 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"/> NOS/ReasonNHSNumberNotAvailable</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">Reason NHS Number not available (e.g. patient not eligible, foreign national)</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/patient.html#Patient.identifier:nhsNumber.extension">Patient.identifier:nhsNumber.extension</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_bck011.png)" id="item.NOS/UrgencyReason" 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"/> NOS/UrgencyReason</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">Reason for urgency, if requesting priority over the standard non-urgent pathway</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/servicerequest.html#ServiceRequest.note">ServiceRequest.note</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_bck0100.png)" id="item.NOS/UrgencyReason-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> NOS/UrgencyReason-designNote</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">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.</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-display">display</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"/></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_bck011.png)" id="item.NOS/ReasonForDiagnosticTest" 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: white; background-color: inherit" title="coding" class="hierarchy"/> NOS/ReasonForDiagnosticTest</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">Reason for diagnostic test</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..*</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-choice">choice</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/observation.html#Observation.valueCodeableConcept">Observation.valueCodeableConcept</a><br/>Options: <a href="#opt-item.NOS/ReasonForDiagnosticTest">3 options</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_bck0100.png)" id="item.NOS/ReasonForDiagnosticTest-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> NOS/ReasonForDiagnosticTest-designNote</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">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.</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-display">display</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"/></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/RODToFollow-gms-rd" 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: white; background-color: inherit" title="coding" class="hierarchy"/> NOS/RODToFollow-gms-rd</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">Record of Discussion (ROD) attached, or to follow</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-choice">choice</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/observation.html#Observation.valueCodeableConcept">Observation.valueCodeableConcept</a><br/>Options: <a href="#opt-item.NOS/RODToFollow-gms-rd">2 options</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.NOS/TestDirectoryClinicalIndication-rd" 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/TestDirectoryClinicalIndication-rd</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">Test Directory Clinical Indication &amp; code (reason for testing)</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/servicerequest.html#ServiceRequest.code">ServiceRequest.code</a><br/>Value Set: <a href="ValueSet-GMSWGSGuideTestCodesVS.html">GMS WGS Rare Disease Form - Guide Test Codes</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.NOS/TestDirectoryClinicalIndication-rd-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"/> NOS/TestDirectoryClinicalIndication-rd-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 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.</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_bck011.png)" id="item.NOS/AdditionalPanels" 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"/> NOS/AdditionalPanels</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">Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp</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"/></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.NOS/AdditionalPanels-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"/> NOS/AdditionalPanels-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">No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG.</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_bck011.png)" id="item.NOS/ProbandAgeAtOnset" 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-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> NOS/ProbandAgeAtOnset</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">Proband's age at onset of clinical features</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-decimal">decimal</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/condition.html#Condition.onsetAge">Condition.onsetAge</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.NOS/ProbandAgeAtOnset-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"/> NOS/ProbandAgeAtOnset-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">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.</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_bck011.png)" id="item.NOS/SpecificRareDiseaseSuspected" 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"/> NOS/SpecificRareDiseaseSuspected</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">State if specific rare disease is suspected or confirmed</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"/></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.NOS/SpecificRareDiseaseSuspected-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"/> NOS/SpecificRareDiseaseSuspected-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">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.</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/LifeStatus" 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/LifeStatus</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">Life status</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/patient.html#Patient.deceasedBoolean">Patient.deceasedBoolean</a><br/>Options: <a href="#opt-item.NOS/LifeStatus">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_bck011.png)" id="item.FamilyMembers" 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-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> FamilyMembers</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">Family member(s) to be tested</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..*</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-group">group</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/servicerequest.html#ServiceRequest.supportingInfo">ServiceRequest.supportingInfo</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_bck0110.png)" id="item.FamilyMembers-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.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"/> FamilyMembers-designNote</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">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 -&gt; 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.</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-display">display</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"/></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_bck0110.png)" id="item.NOS/FamilyMemberReference" 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.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-reference.png" alt="." style="background-color: white; background-color: inherit" title="reference" class="hierarchy"/> NOS/FamilyMemberReference</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">Family member</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-reference">reference</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/servicerequest.html#ServiceRequest.supportingInfo">ServiceRequest.supportingInfo</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_bck0110.png)" id="item.NOS/FamilyMemberForename" 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.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"/> NOS/FamilyMemberForename</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">Forename</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.name.given">RelatedPerson.name.given</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_bck0110.png)" id="item.NOS/FamilyMemberSurname" 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.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"/> NOS/FamilyMemberSurname</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">Surname</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.name.family">RelatedPerson.name.family</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_bck0110.png)" id="item.NOS/FamilyMemberDOB" 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.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-date.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="date" class="hierarchy"/> NOS/FamilyMemberDOB</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">Date of birth</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-date">date</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.birthDate">RelatedPerson.birthDate</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_bck0110.png)" id="item.NOS/FamilyMemberNHSNumber" 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.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"/> NOS/FamilyMemberNHSNumber</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">NHS number (or postcode, if not 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">RelatedPerson.identifier</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_bck0110.png)" id="item.NOS/FamilyMemberGender" 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.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/FamilyMemberGender</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">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_bck0110.png)" id="item.NOS/FamilyMemberLifeStatus" 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.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"/> NOS/FamilyMemberLifeStatus</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">Life status</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-choice">choice</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">Options: <a href="#opt-item.NOS/FamilyMemberLifeStatus">2 options</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_bck0111.png)" id="item.NOS/FamilyMemberStatus" 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.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"/> NOS/FamilyMemberStatus</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">Status</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"/></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_bck01100.png)" id="item.NOS/FamilyMemberStatus-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_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"/> NOS/FamilyMemberStatus-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 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.</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_bck0110.png)" id="item.NOS/FamilyMemberEthnicity" 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.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/FamilyMemberEthnicity</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">Ethnicity</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">Value Set: <a href="ValueSet-ethnicity.html">Ethnicity</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_bck0110.png)" id="item.NOS/FamilyMemberRelationship" 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.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"/> NOS/FamilyMemberRelationship</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">Relationship to proband</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-choice">choice</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.relationship">RelatedPerson.relationship</a><br/>Value Set: <a href="https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&amp;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: #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_bck0101.png)" id="item.FamilyMembers/Specimen" 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-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> FamilyMembers/Specimen</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">Sample (this family member) - only if also using this form for sample collection</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-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"/></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_bck01010.png)" id="item.FamilyMembers/Specimen-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_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"/> FamilyMembers/Specimen-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">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.</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_bck01010.png)" id="item.NOS/FamilyMemberSpecimenLocalId" 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_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"/> NOS/FamilyMemberSpecimenLocalId</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">Local ID / barcode</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/specimen.html#Specimen.identifier">Specimen.identifier</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_bck01010.png)" id="item.NOS/FamilyMemberSpecimenCollectionDateTime" 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_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-datetime.png" alt="." style="background-color: white; background-color: inherit" title="dateTime" class="hierarchy"/> NOS/FamilyMemberSpecimenCollectionDateTime</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">Collection date / time</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-dateTime">dateTime</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/specimen.html#Specimen.collection.collectedDateTime">Specimen.collection.collectedDateTime</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_bck01010.png)" id="item.NOS/FamilyMemberSpecimenSampleType" 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_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/FamilyMemberSpecimenSampleType</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">Sample type</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/specimen.html#Specimen.type">Specimen.type</a><br/>Value Set: <a href="ValueSet-specimen-type.html">Specimen 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_bck01010.png)" id="item.NOS/FamilyMemberSpecimenVolume" 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_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-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> NOS/FamilyMemberSpecimenVolume</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">Sample volume</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-decimal">decimal</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/specimen.html#Specimen.collection.quantity">Specimen.collection.quantity</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_bck01000.png)" id="item.NOS/FamilyMemberSpecimenComments" 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_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"/> NOS/FamilyMemberSpecimenComments</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">Comments</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"/></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_bck011.png)" id="item.GMSSpecimen" 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-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> GMSSpecimen</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">Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)</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-group">group</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_bck0100.png)" id="item.GMSSpecimen-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> GMSSpecimen-designNote</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">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.</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-display">display</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"/></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_bck011.png)" id="item.HPOTerms" 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-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> HPOTerms</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">HPO (Human Phenotype Ontology) Terms</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-group">group</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_bck0110.png)" id="item.HPOTerms-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.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"/> HPOTerms-designNote</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">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 &quot;guide, not exhaustive&quot; 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.</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-display">display</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"/></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_bck0110.png)" id="item.NOS/HPOTerm" 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.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"/> NOS/HPOTerm</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">HPO Term</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..*</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-open-choice">open-choice</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/condition.html#Condition.code">Condition.code</a><br/>Value Set: <a href="ValueSet-GMSWGSGuideHPOTermsVS.html">GMS WGS Rare Disease Form - Guide HPO Terms</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_bck0100.png)" id="item.NOS/HPOTermStatus" 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-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> NOS/HPOTermStatus</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">Present / Absent / Unknown</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..*</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/condition.html#Condition.verificationStatus">Condition.verificationStatus</a><br/>Options: <a href="#opt-item.NOS/HPOTermStatus">3 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_bck001.png)" id="item.MainContact" 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-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> MainContact</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">Main contact (if different from responsible clinician/consultant)</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-group">group</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_bck0010.png)" id="item.MainContact-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.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"/> MainContact-designNote</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">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.</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-display">display</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"/></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_bck0010.png)" id="item.NOS/MainContactName" 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.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"/> NOS/MainContactName</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">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"/></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_bck0010.png)" id="item.NOS/MainContactDepartmentAddress" 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.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"/> NOS/MainContactDepartmentAddress</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">Department address</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"/></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_bck0010.png)" id="item.NOS/MainContactPhone" 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.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"/> NOS/MainContactPhone</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">Phone</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"/></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_bck0000.png)" id="item.NOS/MainContactEmail" 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-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> NOS/MainContactEmail</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">Email</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"/></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/FamilyTestType"> </a><p><b>Answer options for NOS/FamilyTestType </b></p><ul><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestSingleton</li><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestTrio</li><li style="font-size: 11px">https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestOther</li></ul><a name="opt-item.NOS/ReasonForDiagnosticTest"> </a><p><b>Answer options for NOS/ReasonForDiagnosticTest </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><a name="opt-item.NOS/RODToFollow-gms-rd"> </a><p><b>Answer options for NOS/RODToFollow-gms-rd </b></p><ul><li style="font-size: 11px">http://loinc.org#LA33-6 (&quot;Attached&quot;)</li><li style="font-size: 11px">http://loinc.org#LA32-8 (&quot;To follow&quot;)</li></ul><a name="opt-item.NOS/LifeStatus"> </a><p><b>Answer options for NOS/LifeStatus </b></p><ul><li style="font-size: 11px">http://snomed.info/sct#438949009 (&quot;Alive&quot;)</li><li style="font-size: 11px">http://snomed.info/sct#419099009 (&quot;Deceased&quot;)</li></ul><a name="opt-item.NOS/FamilyMemberLifeStatus"> </a><p><b>Answer options for NOS/FamilyMemberLifeStatus </b></p><ul><li style="font-size: 11px">http://snomed.info/sct#438949009 (&quot;Alive&quot;)</li><li style="font-size: 11px">http://snomed.info/sct#419099009 (&quot;Deceased&quot;)</li></ul><a name="opt-item.NOS/HPOTermStatus"> </a><p><b>Answer options for NOS/HPOTermStatus </b></p><ul><li style="font-size: 11px">http://loinc.org#LA33-6 (&quot;Present&quot;)</li><li style="font-size: 11px">http://loinc.org#LA32-8 (&quot;Absent&quot;)</li><li style="font-size: 11px">http://loinc.org#LA4489-6 (&quot;Unknown&quot;)</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/GMSWGSRareDisease"/>
  <version value="2.2.0"/>
  <title value="GMS WGS Rare Disease"/>
  <status value="unknown"/>
  <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.**

**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)."/>
  <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"/>
    <type value="group"/>
    <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="Proband's first name"/>
      <type value="string"/>
      <required value="true"/>
    </item>
    <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="Proband's last name"/>
      <type value="string"/>
      <required value="true"/>
    </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="Date of birth (dd/mm/yyyy)"/>
      <type value="date"/>
      <required value="true"/>
    </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 number"/>
      <type value="string"/>
    </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="Sex assigned at birth"/>
      <type value="choice"/>
      <answerValueSet
                      value="http://hl7.org/fhir/ValueSet/administrative-gender"/>
    </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/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 number"/>
      <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="LN/89061-6-designNote"/>
        <text
              value="See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available."/>
        <type value="display"/>
      </item>
    </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>
  <item>
    <linkId value="HealthcareProfessional"/>
    <definition
                value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole"/>
    <text value="Responsible clinician / consultant"/>
    <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="Name"/>
      <type value="string"/>
    </item>
    <item>
      <linkId value="NOS/DepartmentAddress"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.display"/>
      <text value="Department address"/>
      <type value="string"/>
    </item>
    <item>
      <linkId value="LN/81230-5"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value"/>
      <code>
        <system value="http://loinc.org"/>
        <code value="81230-5"/>
      </code>
      <text value="Phone"/>
      <type value="string"/>
    </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="Email"/>
      <type value="string"/>
    </item>
  </item>
  <item>
    <linkId value="AskAtOrderEntry"/>
    <text value="Ask At Order Entry Questions"/>
    <type value="group"/>
    <item>
      <linkId value="HL7/ORC-21-requesting"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value"/>
      <text value="Requesting organisation"/>
      <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="HL7/ORC-21-requesting-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/GMSLaboratory"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.performer"/>
      <text value="GMS laboratory (to receive sample)"/>
      <type value="string"/>
    </item>
    <item>
      <linkId value="NOS/FamilyTestType"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="FamilyTestType"/>
      </code>
      <text value="Family test"/>
      <type value="choice"/>
      <required value="true"/>
      <answerOption>
        <valueCoding>
          <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
          <code value="FamilyTestSingleton"/>
        </valueCoding>
      </answerOption>
      <answerOption>
        <valueCoding>
          <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
          <code value="FamilyTestTrio"/>
        </valueCoding>
      </answerOption>
      <answerOption>
        <valueCoding>
          <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
          <code value="FamilyTestOther"/>
        </valueCoding>
      </answerOption>
      <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/FamilyTestType-designNote"/>
        <text
              value="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 value="display"/>
      </item>
      <item>
        <linkId value="NOS/FamilyTestOtherNumber"/>
        <text value="Number of family members being tested (if 'Other')"/>
        <type value="integer"/>
        <enableWhen>
          <question value="NOS/FamilyTestType"/>
          <operator value="="/>
          <answerCoding>
            <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
            <code value="FamilyTestOther"/>
          </answerCoding>
        </enableWhen>
      </item>
    </item>
    <item>
      <linkId value="NOS/ReasonNHSNumberNotAvailable"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber.extension"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="ReasonNHSNumberNotAvailable"/>
      </code>
      <text
            value="Reason NHS Number not available (e.g. patient not eligible, foreign national)"/>
      <type value="string"/>
    </item>
    <item>
      <linkId value="NOS/UrgencyReason"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="UrgencyReason"/>
      </code>
      <text
            value="Reason for urgency, if requesting priority over the standard non-urgent pathway"/>
      <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/UrgencyReason-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/ReasonForDiagnosticTest"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/>
      <text value="Reason for diagnostic test"/>
      <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>
        <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/ReasonForDiagnosticTest-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/RODToFollow-gms-rd"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="RODToFollow"/>
      </code>
      <text value="Record of Discussion (ROD) attached, or to follow"/>
      <type value="choice"/>
      <answerOption>
        <valueCoding>
          <system value="http://loinc.org"/>
          <code value="LA33-6"/>
          <display value="Attached"/>
        </valueCoding>
      </answerOption>
      <answerOption>
        <valueCoding>
          <system value="http://loinc.org"/>
          <code value="LA32-8"/>
          <display value="To follow"/>
        </valueCoding>
      </answerOption>
    </item>
    <item>
      <linkId value="NOS/TestDirectoryClinicalIndication-rd"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.code"/>
      <text
            value="Test Directory Clinical Indication &amp; code (reason for testing)"/>
      <type value="choice"/>
      <required value="true"/>
      <answerValueSet
                      value="https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS"/>
      <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/TestDirectoryClinicalIndication-rd-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/AdditionalPanels"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="AdditionalPanels"/>
      </code>
      <text
            value="Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp"/>
      <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/AdditionalPanels-designNote"/>
        <text
              value="No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG."/>
        <type value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/ProbandAgeAtOnset"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Condition#Condition.onsetAge"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="ProbandAgeAtOnset"/>
      </code>
      <text value="Proband's age at onset of clinical features"/>
      <type value="decimal"/>
      <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/ProbandAgeAtOnset-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/SpecificRareDiseaseSuspected"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="SpecificRareDiseaseSuspected"/>
      </code>
      <text value="State if specific rare disease is suspected or confirmed"/>
      <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/SpecificRareDiseaseSuspected-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="NOS/LifeStatus"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.deceasedBoolean"/>
      <text value="Life status"/>
      <type value="choice"/>
      <answerOption>
        <valueCoding>
          <system value="http://snomed.info/sct"/>
          <code value="438949009"/>
          <display value="Alive"/>
        </valueCoding>
      </answerOption>
      <answerOption>
        <valueCoding>
          <system value="http://snomed.info/sct"/>
          <code value="419099009"/>
          <display value="Deceased"/>
        </valueCoding>
      </answerOption>
    </item>
    <item>
      <linkId value="FamilyMembers"/>
      <definition
                  value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo"/>
      <text value="Family member(s) to be tested"/>
      <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="FamilyMembers-designNote"/>
        <text
              value="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 -&gt; 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."/>
        <type value="display"/>
      </item>
      <item>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile">
          <valueCanonical
                          value="http://hl7.org/fhir/StructureDefinition/RelatedPerson"/>
        </extension>
        <linkId value="NOS/FamilyMemberReference"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo"/>
        <text value="Family member"/>
        <type value="reference"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberForename"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.given"/>
        <text value="Forename"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberSurname"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.family"/>
        <text value="Surname"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberDOB"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate"/>
        <text value="Date of birth"/>
        <type value="date"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberNHSNumber"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier"/>
        <text value="NHS number (or postcode, if not known)"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberGender"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender"/>
        <text value="Sex"/>
        <type value="choice"/>
        <answerValueSet
                        value="http://hl7.org/fhir/ValueSet/administrative-gender"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberLifeStatus"/>
        <text value="Life status"/>
        <type value="choice"/>
        <answerOption>
          <valueCoding>
            <system value="http://snomed.info/sct"/>
            <code value="438949009"/>
            <display value="Alive"/>
          </valueCoding>
        </answerOption>
        <answerOption>
          <valueCoding>
            <system value="http://snomed.info/sct"/>
            <code value="419099009"/>
            <display value="Deceased"/>
          </valueCoding>
        </answerOption>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberStatus"/>
        <code>
          <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
          <code value="FamilyMemberStatus"/>
        </code>
        <text value="Status"/>
        <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/FamilyMemberStatus-designNote"/>
          <text
                value="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 value="display"/>
        </item>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberEthnicity"/>
        <text value="Ethnicity"/>
        <type value="choice"/>
        <answerValueSet
                        value="https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity"/>
      </item>
      <item>
        <linkId value="NOS/FamilyMemberRelationship"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship"/>
        <text value="Relationship to proband"/>
        <type value="choice"/>
        <answerValueSet
                        value="https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"/>
      </item>
      <item>
        <linkId value="FamilyMembers/Specimen"/>
        <text
              value="Sample (this family member) - only if also using this form for sample collection"/>
        <type value="group"/>
        <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="FamilyMembers/Specimen-designNote"/>
          <text
                value="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 value="display"/>
        </item>
        <item>
          <linkId value="NOS/FamilyMemberSpecimenLocalId"/>
          <definition
                      value="http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.identifier"/>
          <text value="Local ID / barcode"/>
          <type value="string"/>
        </item>
        <item>
          <linkId value="NOS/FamilyMemberSpecimenCollectionDateTime"/>
          <definition
                      value="http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.collectedDateTime"/>
          <text value="Collection date / time"/>
          <type value="dateTime"/>
        </item>
        <item>
          <linkId value="NOS/FamilyMemberSpecimenSampleType"/>
          <definition
                      value="http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.type"/>
          <text value="Sample type"/>
          <type value="choice"/>
          <answerValueSet
                          value="https://fhir.nwgenomics.nhs.uk/ValueSet/specimen-type"/>
        </item>
        <item>
          <linkId value="NOS/FamilyMemberSpecimenVolume"/>
          <definition
                      value="http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.quantity"/>
          <text value="Sample volume"/>
          <type value="decimal"/>
        </item>
        <item>
          <linkId value="NOS/FamilyMemberSpecimenComments"/>
          <text value="Comments"/>
          <type value="string"/>
        </item>
      </item>
    </item>
    <item>
      <linkId value="GMSSpecimen"/>
      <text
            value="Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)"/>
      <type value="group"/>
      <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="GMSSpecimen-designNote"/>
        <text
              value="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 value="display"/>
      </item>
    </item>
    <item>
      <linkId value="HPOTerms"/>
      <text value="HPO (Human Phenotype Ontology) Terms"/>
      <type value="group"/>
      <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="HPOTerms-designNote"/>
        <text
              value="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 &quot;guide, not exhaustive&quot; 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."/>
        <type value="display"/>
      </item>
      <item>
        <linkId value="NOS/HPOTerm"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/Condition#Condition.code"/>
        <code>
          <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
          <code value="HPOTerm"/>
        </code>
        <text value="HPO Term"/>
        <type value="open-choice"/>
        <required value="true"/>
        <repeats value="true"/>
        <answerValueSet
                        value="https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideHPOTermsVS"/>
      </item>
      <item>
        <linkId value="NOS/HPOTermStatus"/>
        <definition
                    value="http://hl7.org/fhir/StructureDefinition/Condition#Condition.verificationStatus"/>
        <text value="Present / Absent / Unknown"/>
        <type value="choice"/>
        <required value="true"/>
        <repeats value="true"/>
        <answerOption>
          <valueCoding>
            <system value="http://loinc.org"/>
            <code value="LA33-6"/>
            <display value="Present"/>
          </valueCoding>
        </answerOption>
        <answerOption>
          <valueCoding>
            <system value="http://loinc.org"/>
            <code value="LA32-8"/>
            <display value="Absent"/>
          </valueCoding>
        </answerOption>
        <answerOption>
          <valueCoding>
            <system value="http://loinc.org"/>
            <code value="LA4489-6"/>
            <display value="Unknown"/>
          </valueCoding>
        </answerOption>
      </item>
    </item>
    <item>
      <linkId value="MainContact"/>
      <code>
        <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
        <code value="MainContact"/>
      </code>
      <text
            value="Main contact (if different from responsible clinician/consultant)"/>
      <type value="group"/>
      <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="MainContact-designNote"/>
        <text
              value="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 value="display"/>
      </item>
      <item>
        <linkId value="NOS/MainContactName"/>
        <text value="Name"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/MainContactDepartmentAddress"/>
        <text value="Department address"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/MainContactPhone"/>
        <text value="Phone"/>
        <type value="string"/>
      </item>
      <item>
        <linkId value="NOS/MainContactEmail"/>
        <text value="Email"/>
        <type value="string"/>
      </item>
    </item>
  </item>
</Questionnaire>