NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Draft as of 2026-09-20 |
<Questionnaire xmlns="http://hl7.org/fhir">
<id value="ReportableVariantResultPanel"/>
<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 ReportableVariantResultPanel</b></p><a name="ReportableVariantResultPanel"> </a><a name="hcReportableVariantResultPanel"> </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><table border="1" cellpadding="0" cellspacing="0" style="border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;"><tr style="border: 2px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top"><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The linkID for the item">LinkID</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Text for the item">Text</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Minimum and Maximum # of times the item can appear in the instance">Cardinality</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="The type of the item">Type</a></th><th style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Additional information about the item">Description & Constraints</a><span style="float: right"><a href="https://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/></a></span></th></tr><tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon_q_root.gif" alt="." style="background-color: white; background-color: inherit" title="QuestionnaireRoot" class="hierarchy"/> </td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Result panel for a [Variant (Reportable Variant)](StructureDefinition-Variant.html)
`Observation`, structured around the HL7 v2 [Lab Results Interface (LRI)](https://confluence.hl7.org/download/attachments/25559919/2018%2004%2003%20-%20V2%20LRI%20-%20Ch.%205%20CG%20and%20Code%20System%20Tables.pdf?api=v2)'s
own **Discrete Variant Panel** (LOINC `81250-3`, LRI Chapter 5 Table 5-2, plus the
Structural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples
are based on. LRI already defines this as a single panel covering both simple and
structural variants; this Questionnaire follows that same single-panel structure
rather than iGene's separate per-variant-type field sets, mapping each item to both
its LRI `OBX` row and its corresponding component in the HL7 Genomics Reporting IG's
[Variant](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html)
profile. See [OMICS DSS Result Integration](reportable-variants.html) for the full
LRI/FHIR/iGene three-way mapping table.
`item.definition`/`item.code` are cross-checked against this IG's current `Variant`
examples: [Variant - NTHL1](Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html) and
[Variant - CFTR](Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html) (both based on
LRI examples), `Observation-EGFR-Variant-ctDNA`, `Observation-BRCA1`, and the four
`Variant` Observations (a small variant, an intragenic CNV, a multi-gene CNV and a
structural variant) in
[Bundle-ctdna9737383222-testresults](Bundle-ctdna9737383222-testresults.html), plus
iGene's own custom field spec for variants (`NotGit/iGene Custom Fields Master
Dataset - Updated 13-Aug-26.xlsx`, "Variant Level Data" sheet) - only elements
genuinely populated by at least one of these is modelled, since these are the only
elements needed for the iGene feed. See [OMICS DSS Result Integration - Result
Panel: Elements Not Included](reportable-variants.html#result-panel-elements-not-included)
for the LRI/FHIR elements deliberately left out because no current example populates
them.
**Known gaps between iGene, LRI and the FHIR profile, not yet resolved:**
- **Loss of Heterozygosity** is one of iGene's five variant types, but has **no
corresponding row anywhere in LRI's Discrete Variant Panel** - LRI's closest concept,
Allelic State (`53034-5`, row B.23), does not offer an LOH answer option. No current
FHIR example produces LOH data either.
- **Coordinate System [Type]** (`92822-6`) and **Origin of Germline Genetic Variant
[Type]** (`94186-4`), both used by the ctDNA Bundle examples, have **no row in LRI's
Discrete Variant Panel** - LRI's closest concept to the latter is Allelic Phase
(`82120-7`, row B.26), a different LOINC code whose answer list happens to include
Maternal/Paternal as two of several "sets of variants in cis" options, not a
dedicated parent-of-origin field.
- **Structural Variant**: iGene expects a single `Complex variant HGVS name` field
(LOINC `81262-8` - itself an LRI Complex Variant Panel code, row C.2, not part of the
Discrete Variant Panel at all), but the ctDNA Bundle's structural-variant Observation
does not populate `81262-8` - it uses several Discrete Variant Panel components
instead (Genomic Reference Sequence, Coordinate System, Genomic Ref/Alt Allele, DNA
Change Type, Genomic DNA Change).</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/ReportableVariantResultPanel#2.2.0</td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck01.png)" id="item.DiscreteVariantPanel" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> DiscreteVariantPanel</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">Discrete Variant Panel</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..*</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation">Observation</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item.DiscreteVariantPanel-designNote" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> DiscreteVariantPanel-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">LRI Table 5-2 row B - repeats for each discrete variant reported (OBX-4 sub-ID "2a", incrementing per repeat).</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.LRI/B.1" 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"/> LRI/B.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">Variant Category</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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.LRI/B.1-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"/> LRI/B.1-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">LRI row B.1, OBX type CWE, R/O/C = O, [0..1]. LRI's own answer list (LL4165-8)
only distinguishes Simple Variant vs Structural Variant - not granular enough to
route a variant to the correct iGene slot type. Resolved: this IG binds this
component to its own [IGeneVariantCategory](CodeSystem-IGeneVariantCategory.html)
value set instead (`SEQV`/`ICNV`/`MCNV`/`SV`/`LOH`), making the classification
that used to be inferred (see [OMICS DSS Result
Integration](reportable-variants.html#outstanding-issues)) an explicit, coded
value - the FHIR Variant profile has no named slice for this at all, so it is
modelled here as an open-slice component, same as `Variant.component:variant-category`.
Populated by every current example.</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.TranscriptSpecification" 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: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> TranscriptSpecification</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">Transcript Specification</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/observation.html#Observation.component">Observation.component</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_bck0111.png)" id="item.LRI/B.3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_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"/> LRI/B.3</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">Gene Studied</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.3-designNote" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_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"/> LRI/B.3-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">LRI row B.3, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile: this IG's
own `gene-studied` addition (not one of the international profile's named
slices). iGene: rolled into the free-text Description field (SEQV/ICNV) or the
Gene(s) field (LOH). Used by NTHL1, CFTR, EGFR-ctDNA, and the ctDNA Bundle's
small-variant and intragenic-CNV Observations.</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_bck0111.png)" id="item.LRI/B.4" 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"/> LRI/B.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">Transcript Reference Sequence</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.4-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.4-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">LRI row B.4, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-transcript-ref-seq`. iGene: rolled into the free-text
Description field (SEQV/ICNV). Used by NTHL1, CFTR and the ctDNA Bundle's
small-variant Observation.</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_bck0111.png)" id="item.LRI/B.5" 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"/> LRI/B.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">DNA Change (c.HGVS)</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.5-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.5-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">LRI row B.5, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-coding-hgvs`. iGene: rolled into the free-text Description
field (SEQV/ICNV). Used by EGFR-ctDNA, BRCA1 and the ctDNA Bundle's
small-variant Observation.</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_bck0111.png)" id="item.LRI/B.6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_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"/> LRI/B.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">Amino Acid Change (pHGVS)</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.6-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.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">LRI row B.6, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-protein-hgvs`. iGene: rolled into the free-text Description
field (SEQV only - ICNV's Description omits this). Used only by the ctDNA
Bundle's small-variant Observation.</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_bck0101.png)" id="item.LRI/B.7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_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"/> LRI/B.7</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA Change Type</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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.LRI/B.7-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_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"/> LRI/B.7-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">LRI row B.7, OBX type CWE, R/O/C = O, [0..1]. FHIR Variant profile slice:
`coding-change-type`. Not a discrete iGene field - summarised within iGene's
free-text Description/Genomic_coordinates fields. Used by every current
example (Sequence Ontology or LOINC answer coding, e.g. duplication,
deletion, substitution, copy_number_variation).</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.GenomicSpecification" 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"/> GenomicSpecification</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">Genomic Specification</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">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.component">Observation.component</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.LRI/B.9" 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"/> LRI/B.9</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">Genomic Reference Sequence</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.9-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"/> LRI/B.9-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">LRI row B.9, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`genomic-ref-seq`. iGene: rolled into the free-text Genomic_coordinates field
(all four variant types). Used by NTHL1 and all four ctDNA Bundle
Observations.</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_bck0111.png)" id="item.LRI/B.10" 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"/> LRI/B.10</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">Genomic DNA Change (gHGVS)</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.10-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"/> LRI/B.10-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">LRI row B.10, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`genomic-hgvs`. iGene: rolled into the free-text Genomic_coordinates field
(all four variant types). Used by all four ctDNA Bundle Observations - not by
NTHL1/CFTR, where it is commented out pending a confirmed mapping.</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_bck0111.png)" id="item.LRI/B.11" 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"/> LRI/B.11</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">Genomic Ref Allele</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/observation.html#Observation.component.valueString">Observation.component.valueString</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_bck01100.png)" id="item.LRI/B.11-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"/> LRI/B.11-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">LRI row B.11, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:
`ref-allele`. Not a discrete iGene field - summarised within iGene's
Genomic_coordinates field. Used by NTHL1, CFTR and all four ctDNA Bundle
Observations.</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_bck0111.png)" id="item.LRI/B.12" 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"/> LRI/B.12</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">Genomic Allele Start-End</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/observation.html#Observation.component.valueRange">Observation.component.valueRange</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_bck01100.png)" id="item.LRI/B.12-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"/> LRI/B.12-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">LRI row B.12, OBX type NR, R/O/C = C, [0..1]. FHIR Variant profile slice:
`exact-start-end`. Not a discrete iGene field. Used only by the ctDNA
Bundle's small-variant Observation - a Range with only the low bound
populated.</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_bck0101.png)" id="item.LRI/B.13" 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-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> LRI/B.13</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">Genomic Alt Allele</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/observation.html#Observation.component.valueString">Observation.component.valueString</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_bck01000.png)" id="item.LRI/B.13-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_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"/> LRI/B.13-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">LRI row B.13, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:
`alt-allele`. Not a discrete iGene field - summarised within iGene's
Genomic_coordinates field. Used by the ctDNA Bundle's intragenic-CNV,
multi-gene-CNV and structural-variant Observations (as symbolic ALT alleles,
e.g. "<DEL>") - not by the small-variant Observation, NTHL1 or CFTR.</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.OtherAttributes" 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: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> OtherAttributes</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">Other Attributes</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/observation.html#Observation.component">Observation.component</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_bck0111.png)" id="item.LRI/B.17" 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"/> LRI/B.17</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">Cytogenetic (Chromosome) Location</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.17-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.17-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">LRI row B.17, OBX type CWE, R/O/C = O, [0..1]. Not one of the international
FHIR Variant profile's named component slices (its closest named slice,
Cytogenomic Nomenclature 81291-7, is actually a different LRI field - Table
5-1 row A.11, part of the report-level Master Panel, not this Discrete
Variant Panel) - captured here as an open-slice addition, consistent with
GenomicObservation's open component slicing. iGene: this is the sole field
for the Multigenic CNV Description, and part of the Genomic_coordinates
field for the other three variant types. Used only by the ctDNA Bundle's
multi-gene-CNV Observation (e.g. "Xq22.1-q28").</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_bck0101.png)" id="item.LRI/B.18" 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: white; background-color: inherit" title="coding" class="hierarchy"/> LRI/B.18</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">Genomic Source Class</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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.LRI/B.18-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_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"/> LRI/B.18-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">LRI row B.18, OBX type CNE, R/O/C = R (required when present), [0..*]. FHIR
Variant profile slice: `genomic-source-class`. Not a discrete iGene field.
Used by NTHL1, CFTR, EGFR-ctDNA and the ctDNA Bundle's small-variant,
intragenic-CNV and multi-gene-CNV Observations (Germline or Somatic) - not
by the structural-variant Observation.</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.Interpretations" 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"/> Interpretations</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">Interpretations</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">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.component">Observation.component</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.LRI/B.20" 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"/> LRI/B.20</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">Classification</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01000.png)" id="item.LRI/B.20-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_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"/> LRI/B.20-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">LRI row B.20 (LRI names it "Genetic sequence variation clinical
significance"), OBX type CNE, R/O/C = O, [0..1]. FHIR Variant profile: not
one of the profile's own component slices (the profile relies on the generic
`Observation.interpretation`/`valueCodeableConcept` pattern for this) -
modelled here as an open-slice component to match how every current example
actually carries it. iGene: this is the Classification field for all four
variant types. Used by all four ctDNA Bundle Observations (e.g.
"Pathogenic").</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.AllelicStatePhase" 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: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> AllelicStatePhase</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">Allelic State/Phase Information</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/observation.html#Observation.component">Observation.component</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_bck0111.png)" id="item.LRI/B.23" 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"/> LRI/B.23</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">Allelic State</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.LRI/B.23-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.23-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">LRI row B.23, OBX type CNE, R/O/C = C, [0..1], answer list LL381-5
(Heteroplasmic/Homoplasmic/Homozygous/Heterozygous/Hemizygous - no "Loss of
Heterozygosity" option). FHIR Variant profile slice: `allelic-state`. iGene:
the Zygosity/Copy-number state field for all five variant types (iGene's LOH
"State" field has no LOINC code and is a different concept - LRI has no LOH
answer here). Used by NTHL1, CFTR, BRCA1 and the ctDNA Bundle's small-variant
Observation (Heterozygous).</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_bck0101.png)" id="item.LRI/B.24" 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-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> LRI/B.24</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">Allelic Frequency</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/observation.html#Observation.component.valueQuantity">Observation.component.valueQuantity</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.LRI/B.24-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_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"/> LRI/B.24-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">LRI row B.24 (LRI names it "Allelic Frequency [NFr]", the FHIR profile and
our examples call it "Sample variant allelic frequency [NFr]" - same LOINC
code, slightly different display text), OBX type NM, R/O/C = C, [0..1]. FHIR
Variant profile slice: `sample-allelic-frequency`. iGene: the Level (VAF %)
field for the four variant types that have one (not LOH). Used by EGFR-ctDNA
(as a percentage) and all four ctDNA Bundle Observations (as a decimal
fraction) - the units differ between the two sources.</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.StructuralVariantAddenda" 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"/> StructuralVariantAddenda</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">Structural Variant Addenda</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">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.component">Observation.component</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.StructuralVariantAddenda-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"/> StructuralVariantAddenda-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">LRI Table 5-3 - part of the same Discrete Variant Panel in the HL7 v2 message, shown as a separate table in LRI purely for visual separation of structural-variant-only attributes.</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_bck0111.png)" id="item.LRI/B.28" 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-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> LRI/B.28</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">Genomic Structural Variant Copy 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-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/observation.html#Observation.component.valueQuantity">Observation.component.valueQuantity</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_bck01100.png)" id="item.LRI/B.28-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> LRI/B.28-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">LRI row B.28, OBX type NM, R/O/C = O, [0..1], OBX-4 sub-ID "2a.1". FHIR
Variant profile slice: `copy-number`. Not a discrete iGene field - the
closest iGene concept is the Copy-number state dropdown (Allelic State,
B.23), which is a category not a number. Used by the ctDNA Bundle's
intragenic-CNV and multi-gene-CNV Observations - not the structural-variant
(translocation-style) Observation, where a copy number doesn't apply.</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_bck0101.png)" id="item.LRI/B.32" 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-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> LRI/B.32</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">Structural Variant Inner Start-End</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/observation.html#Observation.component.valueRange">Observation.component.valueRange</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.LRI/B.32-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_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"/> LRI/B.32-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">LRI row B.32, OBX type NR, R/O/C = O, [0..1], OBX-4 sub-ID "2a.1". FHIR
Variant profile slice: `inner-start-end`. Not a discrete iGene field -
summarised within iGene's Genomic_coordinates field. Used by the ctDNA
Bundle's intragenic-CNV, multi-gene-CNV and structural-variant Observations.</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.NoLRIEquivalent" 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"/> NoLRIEquivalent</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">FHIR/iGene Elements With No LRI Discrete Variant Panel Row</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">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation.component">Observation.component</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.NoLRIEquivalent-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"/> NoLRIEquivalent-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">These are used by a current FHIR example and/or iGene, but have no row anywhere in LRI's Discrete Variant Panel (Table 5-2/5-3) - see the Description's gap notes.</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_bck0111.png)" id="item.FHIR/CoordinateSystem" 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"/> FHIR/CoordinateSystem</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">Coordinate System</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck01100.png)" id="item.FHIR/CoordinateSystem-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: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> FHIR/CoordinateSystem-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">No LRI row. FHIR Variant profile slice: `coordinate-system`. Not a discrete
iGene field - summarised within iGene's Genomic_coordinates field. Used by
all four ctDNA Bundle Observations (1-based character counting).</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_bck0101.png)" id="item.FHIR/OriginOfGermlineVariant" 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: white; background-color: inherit" title="coding" class="hierarchy"/> FHIR/OriginOfGermlineVariant</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">Origin of Germline Genetic Variant</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.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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.FHIR/OriginOfGermlineVariant-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_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"/> FHIR/OriginOfGermlineVariant-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">No dedicated LRI row - the closest LRI concept is Allelic Phase (82120-7, row
B.26), whose answer list happens to include Maternal/Paternal among several
"set of variants in cis" options, not a dedicated parent-of-origin field.
FHIR Variant profile slice: `variant-inheritance`. iGene: this is the
Inheritance field for the four variant types that have one (not LOH), though
iGene's own spec gives it no LOINC code. Used by the ctDNA Bundle's
small-variant, intragenic-CNV and multi-gene-CNV Observations (Maternal) -
not the structural-variant Observation.</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_bck001.png)" id="item.LossOfHeterozygosity" 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"/> LossOfHeterozygosity</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">Loss of Heterozygosity (iGene fields, mapped to a separate Molecular Consequence Observation)</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">Definition: <a href="http://hl7.org/fhir/R4/observation.html#Observation">Observation</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_bck0010.png)" id="item.LossOfHeterozygosity-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"/> LossOfHeterozygosity-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">One of iGene's five variant types (`LOH1`-`LOH2`), with no corresponding row
anywhere in LRI's Discrete Variant Panel. Decided: this IG models LOH as a
separate [Molecular Consequence](StructureDefinition-MolecularConsequence.html)
Observation, `derivedFrom` the `Variant` it accompanies, with a
`functional-effect` component coded `SO_0001786 loss_of_heterozygosity` -
see [Observation-ctdna9737383222-seqv1-loh](Observation-ctdna9737383222-seqv1-loh.html)
for a worked example - rather than as items directly on this Discrete Variant
Panel. The two items below describe iGene's own flat fields for reference, not
how this IG models them.</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.iGene/LOH_Description" 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"/> iGene/LOH_Description</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">Gene(s)</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck0001.png)" id="item.iGene/LOH_State" 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-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> iGene/LOH_State</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">Loss of Heterozygosity (LOH)</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/observation.html#Observation.component.valueCodeableConcept">Observation.component.valueCodeableConcept</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_bck00000.png)" id="item.iGene/LOH_State-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_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> iGene/LOH_State-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 LOINC code in iGene's own spec ("None"); iGene example value "Significant LOH". Not a value LRI's Allelic State (B.23) answer list supports.</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr><td colspan="5" class="hierarchy"><br/><a href="https://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/> Documentation for this format</a></td></tr></table></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/ReportableVariantResultPanel"/>
<version value="2.2.0"/>
<title value="Reportable Variant Result Panel"/>
<status value="draft"/>
<date value="2026-09-20T05:53:36+00:00"/>
<publisher value="NHS North West Genomics"/>
<contact>
<telecom>
<system value="url"/>
<value value="https://www.nwgenomics.nhs.uk/contact-us"/>
</telecom>
</contact>
<description
value="Result panel for a [Variant (Reportable Variant)](StructureDefinition-Variant.html)
`Observation`, structured around the HL7 v2 [Lab Results Interface (LRI)](https://confluence.hl7.org/download/attachments/25559919/2018%2004%2003%20-%20V2%20LRI%20-%20Ch.%205%20CG%20and%20Code%20System%20Tables.pdf?api=v2)'s
own **Discrete Variant Panel** (LOINC `81250-3`, LRI Chapter 5 Table 5-2, plus the
Structural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples
are based on. LRI already defines this as a single panel covering both simple and
structural variants; this Questionnaire follows that same single-panel structure
rather than iGene's separate per-variant-type field sets, mapping each item to both
its LRI `OBX` row and its corresponding component in the HL7 Genomics Reporting IG's
[Variant](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html)
profile. See [OMICS DSS Result Integration](reportable-variants.html) for the full
LRI/FHIR/iGene three-way mapping table.
`item.definition`/`item.code` are cross-checked against this IG's current `Variant`
examples: [Variant - NTHL1](Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html) and
[Variant - CFTR](Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html) (both based on
LRI examples), `Observation-EGFR-Variant-ctDNA`, `Observation-BRCA1`, and the four
`Variant` Observations (a small variant, an intragenic CNV, a multi-gene CNV and a
structural variant) in
[Bundle-ctdna9737383222-testresults](Bundle-ctdna9737383222-testresults.html), plus
iGene's own custom field spec for variants (`NotGit/iGene Custom Fields Master
Dataset - Updated 13-Aug-26.xlsx`, "Variant Level Data" sheet) - only elements
genuinely populated by at least one of these is modelled, since these are the only
elements needed for the iGene feed. See [OMICS DSS Result Integration - Result
Panel: Elements Not Included](reportable-variants.html#result-panel-elements-not-included)
for the LRI/FHIR elements deliberately left out because no current example populates
them.
**Known gaps between iGene, LRI and the FHIR profile, not yet resolved:**
- **Loss of Heterozygosity** is one of iGene's five variant types, but has **no
corresponding row anywhere in LRI's Discrete Variant Panel** - LRI's closest concept,
Allelic State (`53034-5`, row B.23), does not offer an LOH answer option. No current
FHIR example produces LOH data either.
- **Coordinate System [Type]** (`92822-6`) and **Origin of Germline Genetic Variant
[Type]** (`94186-4`), both used by the ctDNA Bundle examples, have **no row in LRI's
Discrete Variant Panel** - LRI's closest concept to the latter is Allelic Phase
(`82120-7`, row B.26), a different LOINC code whose answer list happens to include
Maternal/Paternal as two of several "sets of variants in cis" options, not a
dedicated parent-of-origin field.
- **Structural Variant**: iGene expects a single `Complex variant HGVS name` field
(LOINC `81262-8` - itself an LRI Complex Variant Panel code, row C.2, not part of the
Discrete Variant Panel at all), but the ctDNA Bundle's structural-variant Observation
does not populate `81262-8` - it uses several Discrete Variant Panel components
instead (Genomic Reference Sequence, Coordinate System, Genomic Ref/Alt Allele, DNA
Change Type, Genomic DNA Change)."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="GB"/>
<display value="United Kingdom of Great Britain and Northern Ireland"/>
</coding>
</jurisdiction>
<code>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
</code>
<item>
<linkId value="DiscreteVariantPanel"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation"/>
<code>
<system value="http://loinc.org"/>
<code value="81250-3"/>
<display value="Discrete genetic variant panel"/>
</code>
<text value="Discrete Variant Panel"/>
<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="DiscreteVariantPanel-designNote"/>
<text
value="LRI Table 5-2 row B - repeats for each discrete variant reported (OBX-4 sub-ID "2a", incrementing per repeat)."/>
<type value="display"/>
</item>
<item>
<linkId value="LRI/B.1"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="83005-9"/>
<display value="Variant category"/>
</code>
<text value="Variant Category"/>
<type value="choice"/>
<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="LRI/B.1-designNote"/>
<text
value="LRI row B.1, OBX type CWE, R/O/C = O, [0..1]. LRI's own answer list (LL4165-8)
only distinguishes Simple Variant vs Structural Variant - not granular enough to
route a variant to the correct iGene slot type. Resolved: this IG binds this
component to its own [IGeneVariantCategory](CodeSystem-IGeneVariantCategory.html)
value set instead (`SEQV`/`ICNV`/`MCNV`/`SV`/`LOH`), making the classification
that used to be inferred (see [OMICS DSS Result
Integration](reportable-variants.html#outstanding-issues)) an explicit, coded
value - the FHIR Variant profile has no named slice for this at all, so it is
modelled here as an open-slice component, same as `Variant.component:variant-category`.
Populated by every current example."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="TranscriptSpecification"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text value="Transcript Specification"/>
<type value="group"/>
<item>
<linkId value="LRI/B.3"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</code>
<text value="Gene Studied"/>
<type value="choice"/>
<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="LRI/B.3-designNote"/>
<text
value="LRI row B.3, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile: this IG's
own `gene-studied` addition (not one of the international profile's named
slices). iGene: rolled into the free-text Description field (SEQV/ICNV) or the
Gene(s) field (LOH). Used by NTHL1, CFTR, EGFR-ctDNA, and the ctDNA Bundle's
small-variant and intragenic-CNV Observations."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.4"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="51958-7"/>
<display value="Transcript reference sequence [ID]"/>
</code>
<text value="Transcript Reference Sequence"/>
<type value="choice"/>
<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="LRI/B.4-designNote"/>
<text
value="LRI row B.4, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-transcript-ref-seq`. iGene: rolled into the free-text
Description field (SEQV/ICNV). Used by NTHL1, CFTR and the ctDNA Bundle's
small-variant Observation."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.5"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change (c.HGVS)"/>
</code>
<text value="DNA Change (c.HGVS)"/>
<type value="choice"/>
<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="LRI/B.5-designNote"/>
<text
value="LRI row B.5, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-coding-hgvs`. iGene: rolled into the free-text Description
field (SEQV/ICNV). Used by EGFR-ctDNA, BRCA1 and the ctDNA Bundle's
small-variant Observation."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.6"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change (pHGVS)"/>
</code>
<text value="Amino Acid Change (pHGVS)"/>
<type value="choice"/>
<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="LRI/B.6-designNote"/>
<text
value="LRI row B.6, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`representative-protein-hgvs`. iGene: rolled into the free-text Description
field (SEQV only - ICNV's Description omits this). Used only by the ctDNA
Bundle's small-variant Observation."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.7"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA change [Type]"/>
</code>
<text value="DNA Change Type"/>
<type value="choice"/>
<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="LRI/B.7-designNote"/>
<text
value="LRI row B.7, OBX type CWE, R/O/C = O, [0..1]. FHIR Variant profile slice:
`coding-change-type`. Not a discrete iGene field - summarised within iGene's
free-text Description/Genomic_coordinates fields. Used by every current
example (Sequence Ontology or LOINC answer coding, e.g. duplication,
deletion, substitution, copy_number_variation)."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="GenomicSpecification"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text value="Genomic Specification"/>
<type value="group"/>
<item>
<linkId value="LRI/B.9"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence [ID]"/>
</code>
<text value="Genomic Reference Sequence"/>
<type value="choice"/>
<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="LRI/B.9-designNote"/>
<text
value="LRI row B.9, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`genomic-ref-seq`. iGene: rolled into the free-text Genomic_coordinates field
(all four variant types). Used by NTHL1 and all four ctDNA Bundle
Observations."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.10"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="81290-9"/>
<display value="Genomic DNA change (gHGVS)"/>
</code>
<text value="Genomic DNA Change (gHGVS)"/>
<type value="choice"/>
<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="LRI/B.10-designNote"/>
<text
value="LRI row B.10, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:
`genomic-hgvs`. iGene: rolled into the free-text Genomic_coordinates field
(all four variant types). Used by all four ctDNA Bundle Observations - not by
NTHL1/CFTR, where it is commented out pending a confirmed mapping."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.11"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueString"/>
<code>
<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Genomic ref allele [ID]"/>
</code>
<text value="Genomic Ref Allele"/>
<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="LRI/B.11-designNote"/>
<text
value="LRI row B.11, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:
`ref-allele`. Not a discrete iGene field - summarised within iGene's
Genomic_coordinates field. Used by NTHL1, CFTR and all four ctDNA Bundle
Observations."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.12"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueRange"/>
<code>
<system value="http://loinc.org"/>
<code value="81254-5"/>
<display value="Genomic allele start-end"/>
</code>
<text value="Genomic Allele Start-End"/>
<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="LRI/B.12-designNote"/>
<text
value="LRI row B.12, OBX type NR, R/O/C = C, [0..1]. FHIR Variant profile slice:
`exact-start-end`. Not a discrete iGene field. Used only by the ctDNA
Bundle's small-variant Observation - a Range with only the low bound
populated."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.13"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueString"/>
<code>
<system value="http://loinc.org"/>
<code value="69551-0"/>
<display value="Genomic alt allele [ID]"/>
</code>
<text value="Genomic Alt Allele"/>
<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="LRI/B.13-designNote"/>
<text
value="LRI row B.13, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:
`alt-allele`. Not a discrete iGene field - summarised within iGene's
Genomic_coordinates field. Used by the ctDNA Bundle's intragenic-CNV,
multi-gene-CNV and structural-variant Observations (as symbolic ALT alleles,
e.g. "<DEL>") - not by the small-variant Observation, NTHL1 or CFTR."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="OtherAttributes"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text value="Other Attributes"/>
<type value="group"/>
<item>
<linkId value="LRI/B.17"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cytogenetic (chromosome) location"/>
</code>
<text value="Cytogenetic (Chromosome) Location"/>
<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="LRI/B.17-designNote"/>
<text
value="LRI row B.17, OBX type CWE, R/O/C = O, [0..1]. Not one of the international
FHIR Variant profile's named component slices (its closest named slice,
Cytogenomic Nomenclature 81291-7, is actually a different LRI field - Table
5-1 row A.11, part of the report-level Master Panel, not this Discrete
Variant Panel) - captured here as an open-slice addition, consistent with
GenomicObservation's open component slicing. iGene: this is the sole field
for the Multigenic CNV Description, and part of the Genomic_coordinates
field for the other three variant types. Used only by the ctDNA Bundle's
multi-gene-CNV Observation (e.g. "Xq22.1-q28")."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.18"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class [Type]"/>
</code>
<text value="Genomic Source Class"/>
<type value="choice"/>
<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="LRI/B.18-designNote"/>
<text
value="LRI row B.18, OBX type CNE, R/O/C = R (required when present), [0..*]. FHIR
Variant profile slice: `genomic-source-class`. Not a discrete iGene field.
Used by NTHL1, CFTR, EGFR-ctDNA and the ctDNA Bundle's small-variant,
intragenic-CNV and multi-gene-CNV Observations (Germline or Somatic) - not
by the structural-variant Observation."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="Interpretations"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text value="Interpretations"/>
<type value="group"/>
<item>
<linkId value="LRI/B.20"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
</code>
<text value="Classification"/>
<type value="choice"/>
<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="LRI/B.20-designNote"/>
<text
value="LRI row B.20 (LRI names it "Genetic sequence variation clinical
significance"), OBX type CNE, R/O/C = O, [0..1]. FHIR Variant profile: not
one of the profile's own component slices (the profile relies on the generic
`Observation.interpretation`/`valueCodeableConcept` pattern for this) -
modelled here as an open-slice component to match how every current example
actually carries it. iGene: this is the Classification field for all four
variant types. Used by all four ctDNA Bundle Observations (e.g.
"Pathogenic")."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="AllelicStatePhase"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text value="Allelic State/Phase Information"/>
<type value="group"/>
<item>
<linkId value="LRI/B.23"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</code>
<text value="Allelic State"/>
<type value="choice"/>
<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="LRI/B.23-designNote"/>
<text
value="LRI row B.23, OBX type CNE, R/O/C = C, [0..1], answer list LL381-5
(Heteroplasmic/Homoplasmic/Homozygous/Heterozygous/Hemizygous - no "Loss of
Heterozygosity" option). FHIR Variant profile slice: `allelic-state`. iGene:
the Zygosity/Copy-number state field for all five variant types (iGene's LOH
"State" field has no LOINC code and is a different concept - LRI has no LOH
answer here). Used by NTHL1, CFTR, BRCA1 and the ctDNA Bundle's small-variant
Observation (Heterozygous)."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.24"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueQuantity"/>
<code>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Allelic Frequency [NFr]"/>
</code>
<text value="Allelic Frequency"/>
<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="LRI/B.24-designNote"/>
<text
value="LRI row B.24 (LRI names it "Allelic Frequency [NFr]", the FHIR profile and
our examples call it "Sample variant allelic frequency [NFr]" - same LOINC
code, slightly different display text), OBX type NM, R/O/C = C, [0..1]. FHIR
Variant profile slice: `sample-allelic-frequency`. iGene: the Level (VAF %)
field for the four variant types that have one (not LOH). Used by EGFR-ctDNA
(as a percentage) and all four ctDNA Bundle Observations (as a decimal
fraction) - the units differ between the two sources."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="StructuralVariantAddenda"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<code>
<system value="http://loinc.org"/>
<code value="81297-4"/>
<display value="Structural variant addendum panel"/>
</code>
<text value="Structural Variant Addenda"/>
<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="StructuralVariantAddenda-designNote"/>
<text
value="LRI Table 5-3 - part of the same Discrete Variant Panel in the HL7 v2 message, shown as a separate table in LRI purely for visual separation of structural-variant-only attributes."/>
<type value="display"/>
</item>
<item>
<linkId value="LRI/B.28"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueQuantity"/>
<code>
<system value="http://loinc.org"/>
<code value="82155-3"/>
<display value="Genomic structural variant copy number"/>
</code>
<text value="Genomic Structural Variant Copy Number"/>
<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="LRI/B.28-designNote"/>
<text
value="LRI row B.28, OBX type NM, R/O/C = O, [0..1], OBX-4 sub-ID "2a.1". FHIR
Variant profile slice: `copy-number`. Not a discrete iGene field - the
closest iGene concept is the Copy-number state dropdown (Allelic State,
B.23), which is a category not a number. Used by the ctDNA Bundle's
intragenic-CNV and multi-gene-CNV Observations - not the structural-variant
(translocation-style) Observation, where a copy number doesn't apply."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="LRI/B.32"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueRange"/>
<code>
<system value="http://loinc.org"/>
<code value="81302-2"/>
<display value="Structural variant inner start and end"/>
</code>
<text value="Structural Variant Inner Start-End"/>
<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="LRI/B.32-designNote"/>
<text
value="LRI row B.32, OBX type NR, R/O/C = O, [0..1], OBX-4 sub-ID "2a.1". FHIR
Variant profile slice: `inner-start-end`. Not a discrete iGene field -
summarised within iGene's Genomic_coordinates field. Used by the ctDNA
Bundle's intragenic-CNV, multi-gene-CNV and structural-variant Observations."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="NoLRIEquivalent"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component"/>
<text
value="FHIR/iGene Elements With No LRI Discrete Variant Panel Row"/>
<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="NoLRIEquivalent-designNote"/>
<text
value="These are used by a current FHIR example and/or iGene, but have no row anywhere in LRI's Discrete Variant Panel (Table 5-2/5-3) - see the Description's gap notes."/>
<type value="display"/>
</item>
<item>
<linkId value="FHIR/CoordinateSystem"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="92822-6"/>
<display value="Genomic coordinate system [Type]"/>
</code>
<text value="Coordinate System"/>
<type value="choice"/>
<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="FHIR/CoordinateSystem-designNote"/>
<text
value="No LRI row. FHIR Variant profile slice: `coordinate-system`. Not a discrete
iGene field - summarised within iGene's Genomic_coordinates field. Used by
all four ctDNA Bundle Observations (1-based character counting)."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="FHIR/OriginOfGermlineVariant"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="94186-4"/>
<display value="Origin of germline genetic variant [Type]"/>
</code>
<text value="Origin of Germline Genetic Variant"/>
<type value="choice"/>
<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="FHIR/OriginOfGermlineVariant-designNote"/>
<text
value="No dedicated LRI row - the closest LRI concept is Allelic Phase (82120-7, row
B.26), whose answer list happens to include Maternal/Paternal among several
"set of variants in cis" options, not a dedicated parent-of-origin field.
FHIR Variant profile slice: `variant-inheritance`. iGene: this is the
Inheritance field for the four variant types that have one (not LOH), though
iGene's own spec gives it no LOINC code. Used by the ctDNA Bundle's
small-variant, intragenic-CNV and multi-gene-CNV Observations (Maternal) -
not the structural-variant Observation."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="LossOfHeterozygosity"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation"/>
<text
value="Loss of Heterozygosity (iGene fields, mapped to a separate Molecular Consequence Observation)"/>
<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="LossOfHeterozygosity-designNote"/>
<text
value="One of iGene's five variant types (`LOH1`-`LOH2`), with no corresponding row
anywhere in LRI's Discrete Variant Panel. Decided: this IG models LOH as a
separate [Molecular Consequence](StructureDefinition-MolecularConsequence.html)
Observation, `derivedFrom` the `Variant` it accompanies, with a
`functional-effect` component coded `SO_0001786 loss_of_heterozygosity` -
see [Observation-ctdna9737383222-seqv1-loh](Observation-ctdna9737383222-seqv1-loh.html)
for a worked example - rather than as items directly on this Discrete Variant
Panel. The two items below describe iGene's own flat fields for reference, not
how this IG models them."/>
<type value="display"/>
</item>
<item>
<linkId value="iGene/LOH_Description"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</code>
<text value="Gene(s)"/>
<type value="string"/>
</item>
<item>
<linkId value="iGene/LOH_State"/>
<definition
value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept"/>
<text value="Loss of Heterozygosity (LOH)"/>
<type value="choice"/>
<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="iGene/LOH_State-designNote"/>
<text
value="No LOINC code in iGene's own spec ("None"); iGene example value "Significant LOH". Not a value LRI's Allelic State (B.23) answer list supports."/>
<type value="display"/>
</item>
</item>
</item>
</item>
</Questionnaire>