FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4b |
| Resource Type | Observation |
| Id | Observation-obs-idh-ex.json |
| FHIR Version | R4B |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation obs-idh-ex
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))
effective: 2023-06-01
performer: Organization Some lab
derivedFrom: Observation Genetic variant assessment
component
Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions)
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Associated phenotype
value: Cystic fibrosis
component
code: Condition Inheritance
value: Autosomal recessive inheritance
{
"resourceType": "Observation",
"id": "obs-idh-ex",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
]
},
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "diagnostic-implication",
"display": "Diagnostic Implication"
}
]
},
"subject": {
"reference": "Patient/HG00403"
},
"effectiveDateTime": "2023-06-01",
"performer": [
{
"reference": "Organization/ExampleLab"
}
],
"derivedFrom": [
{
"reference": "Observation/SNVexample"
}
],
"component": [
{
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent",
"valueRelatedArtifact": {
"type": "citation",
"url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"
}
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
"display": "Pathogenic"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81259-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://purl.obolibrary.org/obo/mondo.owl",
"code": "MONDO:0009061",
"display": "cystic fibrosis"
}
],
"text": "Cystic fibrosis"
}
},
{
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "condition-inheritance"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0000007",
"display": "Autosomal recessive inheritance"
}
]
}
}
]
}