This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
{
"resourceType" : "Parameters",
"id" : "FindSubjectSpecificHaplotypesOutput",
"parameter" : [
{
"name" : "haplotypes",
"part" : [
{
"name" : "haplotypeItem",
"valueString" : "HLA-A*23"
},
{
"name" : "presence",
"valueBoolean" : true
},
{
"name" : "genotype",
"resource" : {
"resourceType" : "Observation",
"id" : "Genotype7",
"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://glstring.org",
"version" : "1.0",
"code" : "hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39",
"display" : "hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39"
}
]
},
"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:4931",
"display" : "HLA-A"
}
]
}
}
]
}
}
]
}
]
}