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
: ExampleSomaticCNV - TTL Representation
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@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/ExampleSomaticCNV> a fhir:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "ExampleSomaticCNV"] ;
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 ExampleSomaticCNV</b></p><a name=\"ExampleSomaticCNV\"> </a><a name=\"hcExampleSomaticCNV\"> </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-CGPatientExample01.html\">Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</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 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001019}\">copy_number_variation</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>: T</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 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000022.10}\">NC_000022.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 3 1<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 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 42523949-42533891</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/CGPatientExample01> ;
fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
] ;
fhir:Observation.effectiveDateTime [ fhir:value "2019-04-01"^^xsd:date] ;
fhir:Observation.performer [
fhir:index 0 ;
fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
] ;
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:48019-4 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "48019-4" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
fhir:Coding.code [ fhir:value "SO:0001019" ] ;
fhir:Coding.display [ fhir:value "copy_number_variation" ]
]
]
], [
fhir:index 1 ;
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 "T" ]
], [
fhir:index 2 ;
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 3 ;
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_000022.10" ]
]
]
], [
fhir:index 4 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:82155-3 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "82155-3" ]
]
] ;
fhir:Observation.component.valueQuantity [
fhir:Quantity.value [ fhir:value "3"^^xsd:decimal ] ;
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ;
fhir:Quantity.code [ fhir:value "1" ]
]
], [
fhir:index 5 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:92822-6 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "92822-6" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA30102-0 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA30102-0" ] ;
fhir:Coding.display [ fhir:value "1-based character counting" ]
]
]
], [
fhir:index 6 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:81302-2 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "81302-2" ]
]
] ;
fhir:Observation.component.valueRange [
fhir:Range.low [
fhir:Quantity.value [ fhir:value "42523949"^^xsd:decimal ]
] ;
fhir:Range.high [
fhir:Quantity.value [ fhir:value "42533891"^^xsd:decimal ]
]
]
] .
<http://hl7.org/fhir/Patient/CGPatientExample01> a fhir:Patient .
<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/Observation/ExampleSomaticCNV.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/Observation/ExampleSomaticCNV.ttl> .
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