Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Page standards status: Informative |
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/Observation/NOTCH1-uncertain-var> a fhir:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "NOTCH1-uncertain-var"] ;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ;
fhir:index 0 ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>
]
] ;
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ] ;
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation NOTCH1-uncertain-var</b></p><a name=\"NOTCH1-uncertain-var\"> </a><a name=\"hcNOTCH1-uncertain-var\"> </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-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href=\"Practitioner-pathologistPractitioner.html\">Practitioner Test Dolin </a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_060087.3:p.A1931T}\">NP_060087.3:p.A1931T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_017617.5}\">NM_017617.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 221 reads per base pair<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_017617.5:c.5791G>A}\">NM_017617.5:c.5791G>A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:7881}\">NOTCH1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48000-4}\">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21262-3}\">Chromosome 9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 139395147-139395147</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000009.11}\">NC_000009.11</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000009.11:g.139395147C>T}\">NC_000009.11:g.139395147C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 0.15 decimal</p></blockquote></div>"
] ;
fhir:Observation.status [ fhir:value "final"] ;
fhir:Observation.category [
fhir:index 0 ;
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
fhir:Coding.code [ fhir:value "laboratory" ]
]
], [
fhir:index 1 ;
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
fhir:Coding.code [ fhir:value "GE" ]
]
] ;
fhir:Observation.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:69548-6 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "69548-6" ]
]
] ;
fhir:Observation.subject [
fhir:link <http://hl7.org/fhir/Patient/somaticPatient> ;
fhir:Reference.reference [ fhir:value "Patient/somaticPatient" ]
] ;
fhir:Observation.effectiveDateTime [ fhir:value "2023-02-01"^^xsd:date] ;
fhir:Observation.performer [
fhir:index 0 ;
fhir:link <http://hl7.org/fhir/Practitioner/pathologistPractitioner> ;
fhir:Reference.reference [ fhir:value "Practitioner/pathologistPractitioner" ]
] ;
fhir:Observation.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA9633-4 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA9633-4" ] ;
fhir:Coding.display [ fhir:value "Present" ]
]
] ;
fhir:Observation.method [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA26398-0 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA26398-0" ] ;
fhir:Coding.display [ fhir:value "Sequencing" ]
]
] ;
fhir:Observation.component [
fhir:index 0 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48005-3 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48005-3" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
fhir:Coding.code [ fhir:value "NP_060087.3:p.A1931T" ]
]
]
], [
fhir:index 1 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:51958-7 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "51958-7" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
fhir:Coding.code [ fhir:value "NM_017617.5" ]
]
]
], [
fhir:index 2 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:82121-5 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "82121-5" ]
]
] ;
fhir:Observation.component.valueQuantity [
fhir:Quantity.value [ fhir:value "221"^^xsd:decimal ] ;
fhir:Quantity.unit [ fhir:value "reads per base pair" ] ;
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ;
fhir:Quantity.code [ fhir:value "1" ]
]
], [
fhir:index 3 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48004-6 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48004-6" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
fhir:Coding.code [ fhir:value "NM_017617.5:c.5791G>A" ]
]
]
], [
fhir:index 4 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48018-6 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48018-6" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
fhir:Coding.code [ fhir:value "HGNC:7881" ] ;
fhir:Coding.display [ fhir:value "NOTCH1" ]
]
]
], [
fhir:index 5 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:69551-0 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "69551-0" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "T" ]
], [
fhir:index 6 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48000-4 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48000-4" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA21262-3 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA21262-3" ] ;
fhir:Coding.display [ fhir:value "Chromosome 9" ]
]
]
], [
fhir:index 7 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:81254-5 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "81254-5" ]
]
] ;
fhir:Observation.component.valueRange [
fhir:Range.low [
fhir:Quantity.value [ fhir:value "139395147"^^xsd:decimal ]
] ;
fhir:Range.high [
fhir:Quantity.value [ fhir:value "139395147"^^xsd:decimal ]
]
]
], [
fhir:index 8 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48013-7 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48013-7" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ;
fhir:Coding.code [ fhir:value "NC_000009.11" ]
]
]
], [
fhir:index 9 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:69547-8 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "69547-8" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "C" ]
], [
fhir:index 10 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:81290-9 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "81290-9" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ;
fhir:Coding.code [ fhir:value "NC_000009.11:g.139395147C>T" ]
]
]
], [
fhir:index 11 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:48002-0 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48002-0" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA6684-0 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA6684-0" ] ;
fhir:Coding.display [ fhir:value "Somatic" ]
]
]
], [
fhir:index 12 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:81258-6 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "81258-6" ]
]
] ;
fhir:Observation.component.valueQuantity [
fhir:Quantity.value [ fhir:value "0.15"^^xsd:decimal ] ;
fhir:Quantity.unit [ fhir:value "decimal" ] ;
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]
]
] .
<http://hl7.org/fhir/Patient/somaticPatient> a fhir:Patient .
<http://hl7.org/fhir/Practitioner/pathologistPractitioner> a fhir:Practitioner .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/Observation/NOTCH1-uncertain-var.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/Observation/NOTCH1-uncertain-var.ttl> .
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-09-21
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