This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
: FindSubjectHaplotypesOutput - JSON Representation
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{
"resourceType" : "Parameters",
"id" : "FindSubjectHaplotypesOutput",
"parameter" : [
{
"name" : "haplotypes",
"part" : [
{
"name" : "geneItem",
"valueString" : "http://www.genenames.org|HGNC:2625"
},
{
"name" : "genotype",
"resource" : {
"resourceType" : "Observation",
"id" : "GenotypeCYP2D6",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
🔗 "reference" : "Patient/CGPatientExample01"
},
"effectiveDateTime" : "2023-07-01",
"performer" : [
{
🔗 "reference" : "Organization/ExampleOrg"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.pharmvar.org",
"code" : "CYP2D6_*1/*1",
"display" : "CYP2D6 *1/*1"
}
]
},
"specimen" : {
🔗 "reference" : "Specimen/GenomicSpecimenExample01"
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:2625",
"display" : "CYP2D6"
}
]
}
}
]
}
}
]
},
{
"name" : "haplotypes",
"part" : [
{
"name" : "geneItem",
"valueString" : "http://www.genenames.org|HGNC:2621"
},
{
"name" : "genotype",
"resource" : {
"resourceType" : "Observation",
"id" : "GenotypeCYP2C19",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
🔗 "reference" : "Patient/CGPatientExample01"
},
"effectiveDateTime" : "2023-07-01",
"performer" : [
{
🔗 "reference" : "Organization/ExampleOrg"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.pharmvar.org",
"code" : "CYP2C19_*1/*2",
"display" : "CYP2C19 *1/*2"
}
]
},
"specimen" : {
🔗 "reference" : "Specimen/GenomicSpecimenExample01"
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:2621",
"display" : "CYP2C19"
}
]
}
}
]
}
}
]
}
]
}
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