diff --git a/Observation/Observation-SLC52A2-VariantAbsent-Example.json b/Observation/Observation-SLC52A2-VariantAbsent-Example.json new file mode 100644 index 00000000..4ef901f7 --- /dev/null +++ b/Observation/Observation-SLC52A2-VariantAbsent-Example.json @@ -0,0 +1,67 @@ +{ + "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" + } + ] + } + ] +} \ No newline at end of file diff --git a/Observation/Observation-SeizurePhenotypeAbsent-Example.json b/Observation/Observation-SeizurePhenotypeAbsent-Example.json new file mode 100644 index 00000000..90cdc429 --- /dev/null +++ b/Observation/Observation-SeizurePhenotypeAbsent-Example.json @@ -0,0 +1,44 @@ +{ + "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" + } +} \ No newline at end of file