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
@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/Parameters/FindSubjectSpecificVariantsOutput> a fhir:Parameters ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "FindSubjectSpecificVariantsOutput"] ;
fhir:Parameters.parameter [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variants" ] ;
fhir:Parameters.parameter.part [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variantItem" ] ;
fhir:Parameters.parameter.valueString [ fhir:value "NM_001354609.2:c.1799T>A" ]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
fhir:Parameters.parameter.valueBoolean [ fhir:value "false"^^xsd:boolean ]
]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "variants" ] ;
fhir:Parameters.parameter.part [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variantItem" ] ;
fhir:Parameters.parameter.valueString [ fhir:value "NM_007294.4:c.5559C>A" ]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
fhir:Parameters.parameter.valueBoolean [ fhir:value "false"^^xsd:boolean ]
]
], [
fhir:index 2 ;
fhir:Parameters.parameter.name [ fhir:value "variants" ] ;
fhir:Parameters.parameter.part [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variantItem" ] ;
fhir:Parameters.parameter.valueString [ fhir:value "NM_001354609.2:c.1802=" ]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
fhir:Parameters.parameter.valueBoolean [ fhir:value "false"^^xsd:boolean ]
]
], [
fhir:index 3 ;
fhir:Parameters.parameter.name [ fhir:value "variants" ] ;
fhir:Parameters.parameter.part [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variantItem" ] ;
fhir:Parameters.parameter.valueString [ fhir:value "NC_000001.10:g.12225351T>A" ]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
fhir:Parameters.parameter.valueBoolean [ fhir:value "false"^^xsd:boolean ]
]
], [
fhir:index 4 ;
fhir:Parameters.parameter.name [ fhir:value "variants" ] ;
fhir:Parameters.parameter.part [
fhir:index 0 ;
fhir:Parameters.parameter.name [ fhir:value "variantItem" ] ;
fhir:Parameters.parameter.valueString [ fhir:value "NM_000038.6:c.55G>T" ]
], [
fhir:index 1 ;
fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
fhir:Parameters.parameter.valueBoolean [ fhir:value "true"^^xsd:boolean ]
], [
fhir:index 2 ;
fhir:Parameters.parameter.name [ fhir:value "variant" ] ;
fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:Resource.id [ fhir:value "dv-5a7f781e83514" ] ;
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\">Variant</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:Coding.display [ fhir:value "Genetic variant assessment" ]
]
] ;
fhir:Observation.subject [
fhir:link <http://hl7.org/fhir/Patient/HG00403> ;
fhir:Reference.reference [ fhir:value "Patient/HG00403" ]
] ;
fhir:Observation.effectiveDateTime [ fhir:value "2023-07-01"^^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.component [
fhir:index 0 ;
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:Coding.display [ fhir:value "Genomic source class [Type]" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA6683-2 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA6683-2" ] ;
fhir:Coding.display [ fhir:value "Germline" ]
]
]
], [
fhir:index 1 ;
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:Coding.display [ fhir:value "Genomic reference sequence ID" ]
]
] ;
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_000005.9" ]
]
]
], [
fhir:index 2 ;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:53034-5 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "53034-5" ] ;
fhir:Coding.display [ fhir:value "Allelic state" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA6706-1 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA6706-1" ] ;
fhir:Coding.display [ fhir:value "heterozygous" ]
]
]
], [
fhir:index 3 ;
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:Coding.display [ fhir:value "Genomic Ref allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "G" ]
], [
fhir:index 4 ;
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:Coding.display [ fhir:value "Genomic Alt allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "T" ]
], [
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:Coding.display [ fhir:value "Genomic coord system" ]
]
] ;
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0 ;
a loinc:LA30100-4 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "LA30100-4" ] ;
fhir:Coding.display [ fhir:value "0-based interval counting" ]
]
]
], [
fhir:index 6 ;
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:CodeableConcept.text [ fhir:value "Genomic allele start-end" ]
] ;
fhir:Observation.component.valueRange [
fhir:Range.low [
fhir:Quantity.value [ fhir:value "112090641"^^xsd:decimal ]
]
]
]
]
]
] .
<http://hl7.org/fhir/Patient/HG00403> a fhir:Patient .
<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/Parameters/FindSubjectSpecificVariantsOutput.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/Parameters/FindSubjectSpecificVariantsOutput.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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