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Representing Negative Findings #242

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Representing Negative Findings #242

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f8399e3
Representing Negative Findings
KazeemHamzat Jun 29, 2026
c5736ab
Updated Observation.code
KazeemHamzat Jun 29, 2026
f15064c
Observation-SLC52A2-VariantAbsent-Example
KazeemHamzat Jun 29, 2026
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67 changes: 67 additions & 0 deletions Observation/Observation-SLC52A2-VariantAbsent-Example.json
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Original file line number Diff line number Diff line change
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{
"resourceType": "Observation",
"id": "Observation-SLC52A2-VariantAbsent-Example",
"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"
},
{
"system": "http://snomed.info/sct",
"code": "414755005",
"display": "Molecular, genetic AND/OR cellular observable"
}
]
},
"subject": {
"reference": "Patient/Patient-PheobeSmitham-Example"
},
"effectiveDateTime": "2023-09-16",
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "260415000",
"display": "Not detected"
},
{
"system": "http://loinc.org",
"code": "LA9634-2",
"display": "Absent"
}
],
"text": "Variant not detected"
},
"method": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "117040002",
"display": "Nucleic acid sequencing"
}
]
}
]
}
44 changes: 44 additions & 0 deletions Observation/Observation-SeizurePhenotypeAbsent-Example.json
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Original file line number Diff line number Diff line change
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{
"resourceType": "Observation",
"id": "Observation-SeizurePhenotypeAbsent-Example",
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "exam"
}
]
}
],
"code": {
"coding": [
{
"system": "http://human-phenotype-ontology.org",
"version": "20221005",
"code": "HP:0001250",
"display": "Seizure"
}
]
},
"subject": {
"reference": "Patient/Patient-PheobeSmitham-Example"
},
"effectiveDateTime": "2023-09-16",
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "260415000",
"display": "Not detected"
},
{
"system": "http://loinc.org",
"code": "LA9634-2",
"display": "Absent"
}
],
"text": "Phenotype not present"
}
}