{ "resourceType": "Observation", "id": "genetics-example3-mutationlist-2", "text": { "status": "generated", "div": "

Generated Narrative with Details

id: genetics-example3-mutationlist-2

status: final

code: ABCB4 gene mutation analysis (Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})

subject: Molecular Lab Patient ID: HOSP-23456

performer: Molecular Diagnostic Laboratory

specimen: Molecular Specimen ID: MLD45-Z4-1234

Components

-CodeValue[x]
*Genetic disease sequence variation interpretation (Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease sequence variation interpretation'})Benign (Details : {http://www.genenames.org code 'LA6675-8' = '??', given as 'Benign'})
" }, "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName", "valueString": "Exon 6" }, { "url": "http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange", "valueString": "p.N168N" }, { "url": "http://hl7.org/fhir/StructureDefinition/geneticsVariationId", "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/projects/SNP", "code": "1202283", "display": "c.181T>G" } ] } } ], "status": "final", "code": { "coding": [ { "system": "http://loinc.org", "code": "49874-1", "display": "ABCB4 gene mutation analysis" } ] }, "subject": { "reference": "Patient/genetics-example2", "display": "Molecular Lab Patient ID: HOSP-23456" }, "performer": [ { "reference": "Practitioner/genetics-example2", "display": "Molecular Diagnostic Laboratory" } ], "specimen": { "reference": "Specimen/genetics-example2", "display": "Molecular Specimen ID: MLD45-Z4-1234" }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "53037-8", "display": "Genetic disease sequence variation interpretation" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.genenames.org", "code": "LA6675-8", "display": "Benign" } ] } } ] }