// WARNING: Created using perplexity.ai and gofish // =========== DRAFT ONLY =========== /*Instance: Observation-FISH-Analysis-for-Ewing-Sarcoma InstanceOf: Observation Usage: #example * status = #final * code = $LNC#51967-8 "Genetic analysis report" * code.text = "FISH Analysis for Ewing Sarcoma" * category = $fhir-observation-category#laboratory "Laboratory" * method = $SCT#104178000 "Fluorescence in situ hybridization" * specimen = Reference(Specimen/example) * component[0].code = $LNC#48018-6 "Gene studied [ID]" * component[=].code.text = "EWSR1-FLI1 fusion" * component[=].valueCodeableConcept.coding[0] = $HGNC#HGNC:3508 "EWSR1" * component[=].valueCodeableConcept.coding[+] = $HGNC#HGNC:3749 "FLI1" * component[+].code = $LNC#81291-7 "Chromosomal translocation" * component[=].valueCodeableConcept = $LNC#LA9633-4 "Present" * component[+].code = $LNC#62374-4 "Human reference sequence assembly version" * component[=].valueString = "GRCh38" * component[+].code = $LNC#48013-7 "Genomic reference sequence ID" * component[=].valueString = "t(11;22)(q24;q12)" * component[+].code = $LNC#48018-6 "Gene studied [ID]" * component[=].valueCodeableConcept = $HGNC#HGNC:3508 "EWSR1" * component[+].code = $LNC#51958-7 "Molecular abnormality" * component[=].valueString = "One pair of signals intact, other pair split apart" * interpretation = $hl7-v3-observation-interpretation#POS "Positive" * interpretation.text = "Positive for EWSR1-FLI1 fusion, consistent with Ewing Sarcoma" */ Profile: MII_PR_MTB_Biomarker_InSituHybridization Parent: MII_PR_MTB_Molekularer_Biomarker Id: mii-pr-mtb-insituhybridization Title: "MII PR MTB In Situ Hybridization" Description: "Molekularer Biomarker - In Situ Hybridization Profil" * insert PR_Header * identifier 0..1 MS * identifier ^short = "Identifier zur Abgrenzung anderer gleichartiger Untersuchungen" * identifier ^definition = "Identifier der Untersuchung, damit die Untersuchung auch außerhalb von FHIR eindeutig identifiziert werden kann. Sollte ISH oder vlg. beinhalten, um von anderen Biomarkeruntersuchungen abzugrenzen. " * focus MS * focus only Reference(MII_PR_Onko_Diagnose_Primaertumor or MII_PR_MTB_Diagnose_Primaertumor) * code 1..1 MS * code ^short = "In Situ Hybridization" * code ^definition = "In Situ Hybridization auf Gewebsschnitt" * code.coding 1..* MS * code.coding.system 1..1 MS * code.coding.code 1..1 MS * code.coding ^slicing.discriminator.type = #value * code.coding ^slicing.discriminator.path = "system" * code.coding ^slicing.rules = #open * code.coding ^slicing.description = "Slice für In Situ Hybridization Finding" * code.coding ^slicing.ordered = false * code.coding contains SCT 1..1 MS * code.coding[SCT].system = $SCT (exactly) * code.coding[SCT] = $SCT#384715000 "Nucleic acid hybridization procedure (procedure)" (exactly) * code.coding contains LNC 0..1 MS * code.coding[LNC].system = $LNC (exactly) * value[x] 1..1 MS * valueQuantity MS * interpretation MS * interpretation ^short = "Interpretation " * interpretation ^definition = "Interpretation der ISH Signale. Die Interpretation kann auf Vergleich mit Referenzwerten basieren, die nicht zwingend vorliegen. "