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 |
{
"resourceType" : "Questionnaire",
"id" : "ReportableVariantResultPanel",
"meta" : {
"profile" : [
🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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)\n`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\nown **Discrete Variant Panel** (LOINC `81250-3`, LRI Chapter 5 Table 5-2, plus the\nStructural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples\nare based on. LRI already defines this as a single panel covering both simple and\nstructural variants; this Questionnaire follows that same single-panel structure\nrather than iGene's separate per-variant-type field sets, mapping each item to both\nits LRI `OBX` row and its corresponding component in the HL7 Genomics Reporting IG's\n[Variant](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html)\nprofile. See [OMICS DSS Result Integration](reportable-variants.html) for the full\nLRI/FHIR/iGene three-way mapping table.\n\n`item.definition`/`item.code` are cross-checked against this IG's current `Variant`\nexamples: [Variant - NTHL1](Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html) and\n[Variant - CFTR](Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html) (both based on\nLRI examples), `Observation-EGFR-Variant-ctDNA`, `Observation-BRCA1`, and the four\n`Variant` Observations (a small variant, an intragenic CNV, a multi-gene CNV and a\nstructural variant) in\n[Bundle-ctdna9737383222-testresults](Bundle-ctdna9737383222-testresults.html), plus\niGene's own custom field spec for variants (`NotGit/iGene Custom Fields Master\nDataset - Updated 13-Aug-26.xlsx`, "Variant Level Data" sheet) - only elements\ngenuinely populated by at least one of these is modelled, since these are the only\nelements needed for the iGene feed. See [OMICS DSS Result Integration - Result\nPanel: Elements Not Included](reportable-variants.html#result-panel-elements-not-included)\nfor the LRI/FHIR elements deliberately left out because no current example populates\nthem.\n\n**Known gaps between iGene, LRI and the FHIR profile, not yet resolved:**\n- **Loss of Heterozygosity** is one of iGene's five variant types, but has **no\n corresponding row anywhere in LRI's Discrete Variant Panel** - LRI's closest concept,\n Allelic State (`53034-5`, row B.23), does not offer an LOH answer option. No current\n FHIR example produces LOH data either.\n- **Coordinate System [Type]** (`92822-6`) and **Origin of Germline Genetic Variant\n [Type]** (`94186-4`), both used by the ctDNA Bundle examples, have **no row in LRI's\n Discrete Variant Panel** - LRI's closest concept to the latter is Allelic Phase\n (`82120-7`, row B.26), a different LOINC code whose answer list happens to include\n Maternal/Paternal as two of several "sets of variants in cis" options, not a\n dedicated parent-of-origin field.\n- **Structural Variant**: iGene expects a single `Complex variant HGVS name` field\n (LOINC `81262-8` - itself an LRI Complex Variant Panel code, row C.2, not part of the\n Discrete Variant Panel at all), but the ctDNA Bundle's structural-variant Observation\n does not populate `81262-8` - it uses several Discrete Variant Panel components\n instead (Genomic Reference Sequence, Coordinate System, Genomic Ref/Alt Allele, DNA\n 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>\r\n<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>\r\n<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>\r\n<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>\r\n<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)\nonly distinguishes Simple Variant vs Structural Variant - not granular enough to\nroute a variant to the correct iGene slot type. Resolved: this IG binds this\ncomponent to its own [IGeneVariantCategory](CodeSystem-IGeneVariantCategory.html)\nvalue set instead (`SEQV`/`ICNV`/`MCNV`/`SV`/`LOH`), making the classification\nthat used to be inferred (see [OMICS DSS Result\nIntegration](reportable-variants.html#outstanding-issues)) an explicit, coded\nvalue - the FHIR Variant profile has no named slice for this at all, so it is\nmodelled here as an open-slice component, same as `Variant.component:variant-category`.\nPopulated 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>\r\n<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>\r\n<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>\r\n<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\nown `gene-studied` addition (not one of the international profile's named\nslices). iGene: rolled into the free-text Description field (SEQV/ICNV) or the\nGene(s) field (LOH). Used by NTHL1, CFTR, EGFR-ctDNA, and the ctDNA Bundle's\nsmall-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>\r\n<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>\r\n<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:\n`representative-transcript-ref-seq`. iGene: rolled into the free-text\nDescription field (SEQV/ICNV). Used by NTHL1, CFTR and the ctDNA Bundle's\nsmall-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>\r\n<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>\r\n<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:\n`representative-coding-hgvs`. iGene: rolled into the free-text Description\nfield (SEQV/ICNV). Used by EGFR-ctDNA, BRCA1 and the ctDNA Bundle's\nsmall-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>\r\n<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>\r\n<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:\n`representative-protein-hgvs`. iGene: rolled into the free-text Description\nfield (SEQV only - ICNV's Description omits this). Used only by the ctDNA\nBundle'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>\r\n<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>\r\n<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:\n`coding-change-type`. Not a discrete iGene field - summarised within iGene's\nfree-text Description/Genomic_coordinates fields. Used by every current\nexample (Sequence Ontology or LOINC answer coding, e.g. duplication,\ndeletion, 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>\r\n<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>\r\n<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>\r\n<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:\n`genomic-ref-seq`. iGene: rolled into the free-text Genomic_coordinates field\n(all four variant types). Used by NTHL1 and all four ctDNA Bundle\nObservations.</td><td 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>\r\n<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>\r\n<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:\n`genomic-hgvs`. iGene: rolled into the free-text Genomic_coordinates field\n(all four variant types). Used by all four ctDNA Bundle Observations - not by\nNTHL1/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>\r\n<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>\r\n<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:\n`ref-allele`. Not a discrete iGene field - summarised within iGene's\nGenomic_coordinates field. Used by NTHL1, CFTR and all four ctDNA Bundle\nObservations.</td><td 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>\r\n<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>\r\n<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:\n`exact-start-end`. Not a discrete iGene field. Used only by the ctDNA\nBundle's small-variant Observation - a Range with only the low bound\npopulated.</td><td 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>\r\n<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>\r\n<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:\n`alt-allele`. Not a discrete iGene field - summarised within iGene's\nGenomic_coordinates field. Used by the ctDNA Bundle's intragenic-CNV,\nmulti-gene-CNV and structural-variant Observations (as symbolic ALT alleles,\ne.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>\r\n<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>\r\n<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>\r\n<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\nFHIR Variant profile's named component slices (its closest named slice,\nCytogenomic Nomenclature 81291-7, is actually a different LRI field - Table\n5-1 row A.11, part of the report-level Master Panel, not this Discrete\nVariant Panel) - captured here as an open-slice addition, consistent with\nGenomicObservation's open component slicing. iGene: this is the sole field\nfor the Multigenic CNV Description, and part of the Genomic_coordinates\nfield for the other three variant types. Used only by the ctDNA Bundle's\nmulti-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>\r\n<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>\r\n<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\nVariant profile slice: `genomic-source-class`. Not a discrete iGene field.\nUsed by NTHL1, CFTR, EGFR-ctDNA and the ctDNA Bundle's small-variant,\nintragenic-CNV and multi-gene-CNV Observations (Germline or Somatic) - not\nby 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>\r\n<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>\r\n<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>\r\n<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\nsignificance"), OBX type CNE, R/O/C = O, [0..1]. FHIR Variant profile: not\none of the profile's own component slices (the profile relies on the generic\n`Observation.interpretation`/`valueCodeableConcept` pattern for this) -\nmodelled here as an open-slice component to match how every current example\nactually carries it. iGene: this is the Classification field for all four\nvariant types. Used by all four ctDNA Bundle Observations (e.g.\n"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>\r\n<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>\r\n<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>\r\n<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\n(Heteroplasmic/Homoplasmic/Homozygous/Heterozygous/Hemizygous - no "Loss of\nHeterozygosity" option). FHIR Variant profile slice: `allelic-state`. iGene:\nthe Zygosity/Copy-number state field for all five variant types (iGene's LOH\n"State" field has no LOINC code and is a different concept - LRI has no LOH\nanswer here). Used by NTHL1, CFTR, BRCA1 and the ctDNA Bundle's small-variant\nObservation (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>\r\n<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>\r\n<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\nour examples call it "Sample variant allelic frequency [NFr]" - same LOINC\ncode, slightly different display text), OBX type NM, R/O/C = C, [0..1]. FHIR\nVariant profile slice: `sample-allelic-frequency`. iGene: the Level (VAF %)\nfield for the four variant types that have one (not LOH). Used by EGFR-ctDNA\n(as a percentage) and all four ctDNA Bundle Observations (as a decimal\nfraction) - 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>\r\n<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>\r\n<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>\r\n<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>\r\n<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\nVariant profile slice: `copy-number`. Not a discrete iGene field - the\nclosest iGene concept is the Copy-number state dropdown (Allelic State,\nB.23), which is a category not a number. Used by the ctDNA Bundle's\nintragenic-CNV and multi-gene-CNV Observations - not the structural-variant\n(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>\r\n<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>\r\n<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\nVariant profile slice: `inner-start-end`. Not a discrete iGene field -\nsummarised within iGene's Genomic_coordinates field. Used by the ctDNA\nBundle'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>\r\n<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>\r\n<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>\r\n<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>\r\n<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\niGene field - summarised within iGene's Genomic_coordinates field. Used by\nall 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>\r\n<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>\r\n<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\nB.26), whose answer list happens to include Maternal/Paternal among several\n"set of variants in cis" options, not a dedicated parent-of-origin field.\nFHIR Variant profile slice: `variant-inheritance`. iGene: this is the\nInheritance field for the four variant types that have one (not LOH), though\niGene's own spec gives it no LOINC code. Used by the ctDNA Bundle's\nsmall-variant, intragenic-CNV and multi-gene-CNV Observations (Maternal) -\nnot 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>\r\n<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>\r\n<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\nanywhere in LRI's Discrete Variant Panel. Decided: this IG models LOH as a\nseparate [Molecular Consequence](StructureDefinition-MolecularConsequence.html)\nObservation, `derivedFrom` the `Variant` it accompanies, with a\n`functional-effect` component coded `SO_0001786 loss_of_heterozygosity` -\nsee [Observation-ctdna9737383222-seqv1-loh](Observation-ctdna9737383222-seqv1-loh.html)\nfor a worked example - rather than as items directly on this Discrete Variant\nPanel. The two items below describe iGene's own flat fields for reference, not\nhow 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>\r\n<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>\r\n<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>\r\n<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>\r\n<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>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm",
"valueCoding" : {
"system" : "http://hl7.org/fhir/version-algorithm",
"code" : "semver"
}
}
],
"url" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/ReportableVariantResultPanel",
"version" : "2.2.0",
"title" : "Reportable Variant Result Panel",
"status" : "draft",
"date" : "2026-09-20T05:53:36+00:00",
"publisher" : "NHS North West Genomics",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nwgenomics.nhs.uk/contact-us"
}
]
}
],
"description" : "Result panel for a [Variant (Reportable Variant)](StructureDefinition-Variant.html)\n`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\nown **Discrete Variant Panel** (LOINC `81250-3`, LRI Chapter 5 Table 5-2, plus the\nStructural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples\nare based on. LRI already defines this as a single panel covering both simple and\nstructural variants; this Questionnaire follows that same single-panel structure\nrather than iGene's separate per-variant-type field sets, mapping each item to both\nits LRI `OBX` row and its corresponding component in the HL7 Genomics Reporting IG's\n[Variant](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html)\nprofile. See [OMICS DSS Result Integration](reportable-variants.html) for the full\nLRI/FHIR/iGene three-way mapping table.\n\n`item.definition`/`item.code` are cross-checked against this IG's current `Variant`\nexamples: [Variant - NTHL1](Observation-8385c2fd-313d-4fd5-b98e-d5ea4bae6f99.html) and\n[Variant - CFTR](Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html) (both based on\nLRI examples), `Observation-EGFR-Variant-ctDNA`, `Observation-BRCA1`, and the four\n`Variant` Observations (a small variant, an intragenic CNV, a multi-gene CNV and a\nstructural variant) in\n[Bundle-ctdna9737383222-testresults](Bundle-ctdna9737383222-testresults.html), plus\niGene's own custom field spec for variants (`NotGit/iGene Custom Fields Master\nDataset - Updated 13-Aug-26.xlsx`, \"Variant Level Data\" sheet) - only elements\ngenuinely populated by at least one of these is modelled, since these are the only\nelements needed for the iGene feed. See [OMICS DSS Result Integration - Result\nPanel: Elements Not Included](reportable-variants.html#result-panel-elements-not-included)\nfor the LRI/FHIR elements deliberately left out because no current example populates\nthem.\n\n**Known gaps between iGene, LRI and the FHIR profile, not yet resolved:**\n- **Loss of Heterozygosity** is one of iGene's five variant types, but has **no\n corresponding row anywhere in LRI's Discrete Variant Panel** - LRI's closest concept,\n Allelic State (`53034-5`, row B.23), does not offer an LOH answer option. No current\n FHIR example produces LOH data either.\n- **Coordinate System [Type]** (`92822-6`) and **Origin of Germline Genetic Variant\n [Type]** (`94186-4`), both used by the ctDNA Bundle examples, have **no row in LRI's\n Discrete Variant Panel** - LRI's closest concept to the latter is Allelic Phase\n (`82120-7`, row B.26), a different LOINC code whose answer list happens to include\n Maternal/Paternal as two of several \"sets of variants in cis\" options, not a\n dedicated parent-of-origin field.\n- **Structural Variant**: iGene expects a single `Complex variant HGVS name` field\n (LOINC `81262-8` - itself an LRI Complex Variant Panel code, row C.2, not part of the\n Discrete Variant Panel at all), but the ctDNA Bundle's structural-variant Observation\n does not populate `81262-8` - it uses several Discrete Variant Panel components\n instead (Genomic Reference Sequence, Coordinate System, Genomic Ref/Alt Allele, DNA\n Change Type, Genomic DNA Change).",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"code" : [
{
"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
}
],
"item" : [
{
"linkId" : "DiscreteVariantPanel",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81250-3",
"display" : "Discrete genetic variant panel"
}
],
"text" : "Discrete Variant Panel",
"type" : "group",
"repeats" : true,
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "DiscreteVariantPanel-designNote",
"text" : "LRI Table 5-2 row B - repeats for each discrete variant reported (OBX-4 sub-ID \"2a\", incrementing per repeat).",
"type" : "display"
},
{
"linkId" : "LRI/B.1",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "83005-9",
"display" : "Variant category"
}
],
"text" : "Variant Category",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.1-designNote",
"text" : "LRI row B.1, OBX type CWE, R/O/C = O, [0..1]. LRI's own answer list (LL4165-8)\nonly distinguishes Simple Variant vs Structural Variant - not granular enough to\nroute a variant to the correct iGene slot type. Resolved: this IG binds this\ncomponent to its own [IGeneVariantCategory](CodeSystem-IGeneVariantCategory.html)\nvalue set instead (`SEQV`/`ICNV`/`MCNV`/`SV`/`LOH`), making the classification\nthat used to be inferred (see [OMICS DSS Result\nIntegration](reportable-variants.html#outstanding-issues)) an explicit, coded\nvalue - the FHIR Variant profile has no named slice for this at all, so it is\nmodelled here as an open-slice component, same as `Variant.component:variant-category`.\nPopulated by every current example.",
"type" : "display"
}
]
},
{
"linkId" : "TranscriptSpecification",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "Transcript Specification",
"type" : "group",
"item" : [
{
"linkId" : "LRI/B.3",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
],
"text" : "Gene Studied",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.3-designNote",
"text" : "LRI row B.3, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile: this IG's\nown `gene-studied` addition (not one of the international profile's named\nslices). iGene: rolled into the free-text Description field (SEQV/ICNV) or the\nGene(s) field (LOH). Used by NTHL1, CFTR, EGFR-ctDNA, and the ctDNA Bundle's\nsmall-variant and intragenic-CNV Observations.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.4",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "51958-7",
"display" : "Transcript reference sequence [ID]"
}
],
"text" : "Transcript Reference Sequence",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.4-designNote",
"text" : "LRI row B.4, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`representative-transcript-ref-seq`. iGene: rolled into the free-text\nDescription field (SEQV/ICNV). Used by NTHL1, CFTR and the ctDNA Bundle's\nsmall-variant Observation.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.5",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48004-6",
"display" : "DNA change (c.HGVS)"
}
],
"text" : "DNA Change (c.HGVS)",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.5-designNote",
"text" : "LRI row B.5, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`representative-coding-hgvs`. iGene: rolled into the free-text Description\nfield (SEQV/ICNV). Used by EGFR-ctDNA, BRCA1 and the ctDNA Bundle's\nsmall-variant Observation.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.6",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48005-3",
"display" : "Amino acid change (pHGVS)"
}
],
"text" : "Amino Acid Change (pHGVS)",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.6-designNote",
"text" : "LRI row B.6, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`representative-protein-hgvs`. iGene: rolled into the free-text Description\nfield (SEQV only - ICNV's Description omits this). Used only by the ctDNA\nBundle's small-variant Observation.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.7",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48019-4",
"display" : "DNA change [Type]"
}
],
"text" : "DNA Change Type",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.7-designNote",
"text" : "LRI row B.7, OBX type CWE, R/O/C = O, [0..1]. FHIR Variant profile slice:\n`coding-change-type`. Not a discrete iGene field - summarised within iGene's\nfree-text Description/Genomic_coordinates fields. Used by every current\nexample (Sequence Ontology or LOINC answer coding, e.g. duplication,\ndeletion, substitution, copy_number_variation).",
"type" : "display"
}
]
}
]
},
{
"linkId" : "GenomicSpecification",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "Genomic Specification",
"type" : "group",
"item" : [
{
"linkId" : "LRI/B.9",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48013-7",
"display" : "Genomic reference sequence [ID]"
}
],
"text" : "Genomic Reference Sequence",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.9-designNote",
"text" : "LRI row B.9, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`genomic-ref-seq`. iGene: rolled into the free-text Genomic_coordinates field\n(all four variant types). Used by NTHL1 and all four ctDNA Bundle\nObservations.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.10",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81290-9",
"display" : "Genomic DNA change (gHGVS)"
}
],
"text" : "Genomic DNA Change (gHGVS)",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.10-designNote",
"text" : "LRI row B.10, OBX type CWE, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`genomic-hgvs`. iGene: rolled into the free-text Genomic_coordinates field\n(all four variant types). Used by all four ctDNA Bundle Observations - not by\nNTHL1/CFTR, where it is commented out pending a confirmed mapping.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.11",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueString",
"code" : [
{
"system" : "http://loinc.org",
"code" : "69547-8",
"display" : "Genomic ref allele [ID]"
}
],
"text" : "Genomic Ref Allele",
"type" : "string",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.11-designNote",
"text" : "LRI row B.11, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`ref-allele`. Not a discrete iGene field - summarised within iGene's\nGenomic_coordinates field. Used by NTHL1, CFTR and all four ctDNA Bundle\nObservations.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.12",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueRange",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81254-5",
"display" : "Genomic allele start-end"
}
],
"text" : "Genomic Allele Start-End",
"type" : "string",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.12-designNote",
"text" : "LRI row B.12, OBX type NR, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`exact-start-end`. Not a discrete iGene field. Used only by the ctDNA\nBundle's small-variant Observation - a Range with only the low bound\npopulated.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.13",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueString",
"code" : [
{
"system" : "http://loinc.org",
"code" : "69551-0",
"display" : "Genomic alt allele [ID]"
}
],
"text" : "Genomic Alt Allele",
"type" : "string",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.13-designNote",
"text" : "LRI row B.13, OBX type ST, R/O/C = C, [0..1]. FHIR Variant profile slice:\n`alt-allele`. Not a discrete iGene field - summarised within iGene's\nGenomic_coordinates field. Used by the ctDNA Bundle's intragenic-CNV,\nmulti-gene-CNV and structural-variant Observations (as symbolic ALT alleles,\ne.g. \"<DEL>\") - not by the small-variant Observation, NTHL1 or CFTR.",
"type" : "display"
}
]
}
]
},
{
"linkId" : "OtherAttributes",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "Other Attributes",
"type" : "group",
"item" : [
{
"linkId" : "LRI/B.17",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48001-2",
"display" : "Cytogenetic (chromosome) location"
}
],
"text" : "Cytogenetic (Chromosome) Location",
"type" : "string",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.17-designNote",
"text" : "LRI row B.17, OBX type CWE, R/O/C = O, [0..1]. Not one of the international\nFHIR Variant profile's named component slices (its closest named slice,\nCytogenomic Nomenclature 81291-7, is actually a different LRI field - Table\n5-1 row A.11, part of the report-level Master Panel, not this Discrete\nVariant Panel) - captured here as an open-slice addition, consistent with\nGenomicObservation's open component slicing. iGene: this is the sole field\nfor the Multigenic CNV Description, and part of the Genomic_coordinates\nfield for the other three variant types. Used only by the ctDNA Bundle's\nmulti-gene-CNV Observation (e.g. \"Xq22.1-q28\").",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.18",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48002-0",
"display" : "Genomic source class [Type]"
}
],
"text" : "Genomic Source Class",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.18-designNote",
"text" : "LRI row B.18, OBX type CNE, R/O/C = R (required when present), [0..*]. FHIR\nVariant profile slice: `genomic-source-class`. Not a discrete iGene field.\nUsed by NTHL1, CFTR, EGFR-ctDNA and the ctDNA Bundle's small-variant,\nintragenic-CNV and multi-gene-CNV Observations (Germline or Somatic) - not\nby the structural-variant Observation.",
"type" : "display"
}
]
}
]
},
{
"linkId" : "Interpretations",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "Interpretations",
"type" : "group",
"item" : [
{
"linkId" : "LRI/B.20",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "53037-8",
"display" : "Genetic variation clinical significance [Imp]"
}
],
"text" : "Classification",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.20-designNote",
"text" : "LRI row B.20 (LRI names it \"Genetic sequence variation clinical\nsignificance\"), OBX type CNE, R/O/C = O, [0..1]. FHIR Variant profile: not\none of the profile's own component slices (the profile relies on the generic\n`Observation.interpretation`/`valueCodeableConcept` pattern for this) -\nmodelled here as an open-slice component to match how every current example\nactually carries it. iGene: this is the Classification field for all four\nvariant types. Used by all four ctDNA Bundle Observations (e.g.\n\"Pathogenic\").",
"type" : "display"
}
]
}
]
},
{
"linkId" : "AllelicStatePhase",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "Allelic State/Phase Information",
"type" : "group",
"item" : [
{
"linkId" : "LRI/B.23",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "53034-5",
"display" : "Allelic state"
}
],
"text" : "Allelic State",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.23-designNote",
"text" : "LRI row B.23, OBX type CNE, R/O/C = C, [0..1], answer list LL381-5\n(Heteroplasmic/Homoplasmic/Homozygous/Heterozygous/Hemizygous - no \"Loss of\nHeterozygosity\" option). FHIR Variant profile slice: `allelic-state`. iGene:\nthe Zygosity/Copy-number state field for all five variant types (iGene's LOH\n\"State\" field has no LOINC code and is a different concept - LRI has no LOH\nanswer here). Used by NTHL1, CFTR, BRCA1 and the ctDNA Bundle's small-variant\nObservation (Heterozygous).",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.24",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueQuantity",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81258-6",
"display" : "Allelic Frequency [NFr]"
}
],
"text" : "Allelic Frequency",
"type" : "decimal",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.24-designNote",
"text" : "LRI row B.24 (LRI names it \"Allelic Frequency [NFr]\", the FHIR profile and\nour examples call it \"Sample variant allelic frequency [NFr]\" - same LOINC\ncode, slightly different display text), OBX type NM, R/O/C = C, [0..1]. FHIR\nVariant profile slice: `sample-allelic-frequency`. iGene: the Level (VAF %)\nfield for the four variant types that have one (not LOH). Used by EGFR-ctDNA\n(as a percentage) and all four ctDNA Bundle Observations (as a decimal\nfraction) - the units differ between the two sources.",
"type" : "display"
}
]
}
]
},
{
"linkId" : "StructuralVariantAddenda",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81297-4",
"display" : "Structural variant addendum panel"
}
],
"text" : "Structural Variant Addenda",
"type" : "group",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "StructuralVariantAddenda-designNote",
"text" : "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" : "display"
},
{
"linkId" : "LRI/B.28",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueQuantity",
"code" : [
{
"system" : "http://loinc.org",
"code" : "82155-3",
"display" : "Genomic structural variant copy number"
}
],
"text" : "Genomic Structural Variant Copy Number",
"type" : "decimal",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.28-designNote",
"text" : "LRI row B.28, OBX type NM, R/O/C = O, [0..1], OBX-4 sub-ID \"2a.1\". FHIR\nVariant profile slice: `copy-number`. Not a discrete iGene field - the\nclosest iGene concept is the Copy-number state dropdown (Allelic State,\nB.23), which is a category not a number. Used by the ctDNA Bundle's\nintragenic-CNV and multi-gene-CNV Observations - not the structural-variant\n(translocation-style) Observation, where a copy number doesn't apply.",
"type" : "display"
}
]
},
{
"linkId" : "LRI/B.32",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueRange",
"code" : [
{
"system" : "http://loinc.org",
"code" : "81302-2",
"display" : "Structural variant inner start and end"
}
],
"text" : "Structural Variant Inner Start-End",
"type" : "string",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LRI/B.32-designNote",
"text" : "LRI row B.32, OBX type NR, R/O/C = O, [0..1], OBX-4 sub-ID \"2a.1\". FHIR\nVariant profile slice: `inner-start-end`. Not a discrete iGene field -\nsummarised within iGene's Genomic_coordinates field. Used by the ctDNA\nBundle's intragenic-CNV, multi-gene-CNV and structural-variant Observations.",
"type" : "display"
}
]
}
]
},
{
"linkId" : "NoLRIEquivalent",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component",
"text" : "FHIR/iGene Elements With No LRI Discrete Variant Panel Row",
"type" : "group",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "NoLRIEquivalent-designNote",
"text" : "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" : "display"
},
{
"linkId" : "FHIR/CoordinateSystem",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "92822-6",
"display" : "Genomic coordinate system [Type]"
}
],
"text" : "Coordinate System",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "FHIR/CoordinateSystem-designNote",
"text" : "No LRI row. FHIR Variant profile slice: `coordinate-system`. Not a discrete\niGene field - summarised within iGene's Genomic_coordinates field. Used by\nall four ctDNA Bundle Observations (1-based character counting).",
"type" : "display"
}
]
},
{
"linkId" : "FHIR/OriginOfGermlineVariant",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "94186-4",
"display" : "Origin of germline genetic variant [Type]"
}
],
"text" : "Origin of Germline Genetic Variant",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "FHIR/OriginOfGermlineVariant-designNote",
"text" : "No dedicated LRI row - the closest LRI concept is Allelic Phase (82120-7, row\nB.26), whose answer list happens to include Maternal/Paternal among several\n\"set of variants in cis\" options, not a dedicated parent-of-origin field.\nFHIR Variant profile slice: `variant-inheritance`. iGene: this is the\nInheritance field for the four variant types that have one (not LOH), though\niGene's own spec gives it no LOINC code. Used by the ctDNA Bundle's\nsmall-variant, intragenic-CNV and multi-gene-CNV Observations (Maternal) -\nnot the structural-variant Observation.",
"type" : "display"
}
]
}
]
},
{
"linkId" : "LossOfHeterozygosity",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation",
"text" : "Loss of Heterozygosity (iGene fields, mapped to a separate Molecular Consequence Observation)",
"type" : "group",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "LossOfHeterozygosity-designNote",
"text" : "One of iGene's five variant types (`LOH1`-`LOH2`), with no corresponding row\nanywhere in LRI's Discrete Variant Panel. Decided: this IG models LOH as a\nseparate [Molecular Consequence](StructureDefinition-MolecularConsequence.html)\nObservation, `derivedFrom` the `Variant` it accompanies, with a\n`functional-effect` component coded `SO_0001786 loss_of_heterozygosity` -\nsee [Observation-ctdna9737383222-seqv1-loh](Observation-ctdna9737383222-seqv1-loh.html)\nfor a worked example - rather than as items directly on this Discrete Variant\nPanel. The two items below describe iGene's own flat fields for reference, not\nhow this IG models them.",
"type" : "display"
},
{
"linkId" : "iGene/LOH_Description",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"code" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
],
"text" : "Gene(s)",
"type" : "string"
},
{
"linkId" : "iGene/LOH_State",
"definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.component.valueCodeableConcept",
"text" : "Loss of Heterozygosity (LOH)",
"type" : "choice",
"item" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/questionnaire-item-control",
"code" : "help"
}
]
}
}
],
"linkId" : "iGene/LOH_State-designNote",
"text" : "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" : "display"
}
]
}
]
}
]
}
]
}