Genomics Reporting Implementation Guide
3.0.0 - release
Genomics Reporting Implementation Guide
3.0.0 - release
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
{
"resourceType" : "Parameters",
"id" : "FindSubjectSpecificVariantsOutput",
"parameter" : [
{
"name" : "variants",
"part" : [
{
"name" : "variantItem",
"valueString" : "NM_001354609.2:c.1799T>A"
},
{
"name" : "presence",
"valueBoolean" : false
}
]
},
{
"name" : "variants",
"part" : [
{
"name" : "variantItem",
"valueString" : "NM_007294.4:c.5559C>A"
},
{
"name" : "presence",
"valueBoolean" : false
}
]
},
{
"name" : "variants",
"part" : [
{
"name" : "variantItem",
"valueString" : "NM_001354609.2:c.1802="
},
{
"name" : "presence",
"valueBoolean" : false
}
]
},
{
"name" : "variants",
"part" : [
{
"name" : "variantItem",
"valueString" : "NC_000001.10:g.12225351T>A"
},
{
"name" : "presence",
"valueBoolean" : false
}
]
},
{
"name" : "variants",
"part" : [
{
"name" : "variantItem",
"valueString" : "NM_000038.6:c.55G>T"
},
{
"name" : "presence",
"valueBoolean" : true
},
{
"name" : "variant",
"resource" : {
"resourceType" : "Observation",
"id" : "dv-5a7f781e83514",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
}
]
},
"subject" : {
🔗 "reference" : "Patient/HG00403"
},
"effectiveDateTime" : "2023-07-01",
"performer" : [
{
🔗 "reference" : "Organization/ExampleOrg"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA9633-4",
"display" : "Present"
}
]
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48002-0",
"display" : "Genomic source class [Type]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6683-2",
"display" : "Germline"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48013-7",
"display" : "Genomic reference sequence ID"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/refseq",
"code" : "NC_000005.9"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "53034-5",
"display" : "Allelic state"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6706-1",
"display" : "heterozygous"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69547-8",
"display" : "Genomic Ref allele [ID]"
}
]
},
"valueString" : "G"
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69551-0",
"display" : "Genomic Alt allele [ID]"
}
]
},
"valueString" : "T"
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "92822-6",
"display" : "Genomic coord system"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA30100-4",
"display" : "0-based interval counting"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81254-5"
}
],
"text" : "Genomic allele start-end"
},
"valueRange" : {
"low" : {
"value" : 112090641
}
}
}
]
}
}
]
}
]
}
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-11-19
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