// RareLink Genetic Variant Observation { "resourceType" : "Observation", "id" : "<id>", // Logical id of this artifact "meta" : {Meta}, // C? Metadata about the resource "implicitRules" : "<uri>", // C? A set of rules under which this content was created "language" : "<code>", // C? Language of the resource content "text" : {Narrative}, // C? Text summary of the resource, for human interpretation "contained" : [{Resource}], // Contained, inline Resources "extension": [ { // C? Only One! Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings "url": "http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding", "valueCodeableConcept" : {CodeableConcept} // C? R! Value of extension }, { // C? Only One! Target anatomic location or structure "url": "http://hl7.org/fhir/StructureDefinition/bodySite", "valueReference" : {Reference(BodyStructure)} // C? R! Value of extension } ], "identifier" : [{Identifier}], // C? Business Identifier for observation "basedOn" : [{Reference(CarePlan)}], // C? Fulfills plan, proposal or order "partOf" : [{Reference(MedicationAdministration)}], // C? Part of referenced event "status" : "final", // C? R! "category" : [ // sliced by value:coding in the specified order Open { // Classification of type of observation C? R! Only One! "extension" : [ // sliced by value:url in the specified order Open ], "coding" : [{Coding}], // C? R! Only One! Code defined by a terminology system "text" : "<string>" // C? Plain text representation of the concept }, { // Classification of type of observation C? R! Only One! "extension" : [ // sliced by value:url in the specified order Open ], "coding" : [{Coding}], // C? R! Only One! Code defined by a terminology system "text" : "<string>" // C? Plain text representation of the concept } ], "code" : { // C? R! 69548-6 "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "69548-6", // C? "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "subject" : { // C? R! Who and/or what the observation is about "extension": [ ], "reference" : "<string>", // C? Literal reference, Relative, internal or absolute URL "type" : "<uri>", // C? Type the reference refers to (e.g. "Patient") "identifier" : {Identifier}, // C? Logical reference, when literal reference is not known "display" : "<string>" // C? Text alternative for the resource }, "focus" : [{Reference(Resource)}], // C? What the observation is about, when it is not about the subject of record "encounter" : {Reference(Encounter)}, // C? Healthcare event during which this observation is made // effective[x]: Clinically relevant time/time-period for observation. One of these 4: "effectiveDateTime" : "<dateTime>", // C? Clinically relevant time/time-period for observation "effectivePeriod" : {Period}, // C? Clinically relevant time/time-period for observation "effectiveTiming" : {Timing}, // C? Clinically relevant time/time-period for observation "effectiveInstant" : "<instant>", // C? Clinically relevant time/time-period for observation "issued" : "<instant>", // C? Date/Time this version was made available "performer" : [{Reference(Practitioner)}], // C? Who is responsible for the observation "valueQuantity" : [ // sliced by type:$this in the specified order Open { // Indeterminate | No call | Present | Absent. C? // from Element: extension } ], "dataAbsentReason" : {CodeableConcept}, // C? Why the result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "note" : [{Annotation (as CodedAnnotation)}], // C? Comments about the Observation that also contain a coded type "bodySite" : {CodeableConcept}, // C? Observed body part "method" : { // C? Sequencing | SNP array | PCR | Computational analysis | ... "extension": [ ], "coding" : [{Coding}], // C? Code defined by a terminology system "text" : "<string>" // C? Plain text representation of the concept }, "specimen" : {Reference(Specimen)}, // C? Specimen used for this observation "device" : {Reference(Device)}, // C? (Measurement) Device "referenceRange" : [{ // C? Provides guide for interpretation "extension": [ ], "low" : {Quantity (as SimpleQuantity)}, // C? Low Range, if relevant "high" : {Quantity (as SimpleQuantity)}, // C? High Range, if relevant "type" : {CodeableConcept}, // C? Reference range qualifier "appliesTo" : [{CodeableConcept}], // C? Reference range population "age" : {Range}, // C? Applicable age range, if relevant "text" : "<string>", // C? Text based reference range in an observation }], "hasMember" : [{Reference(Observation)}], // C? Related resource that belongs to the Observation group "derivedFrom" : [ // sliced by profile:resolve() in the specified order Open ], "component" : [ // sliced by value:code in the specified order Open { // Clinical Conclusion C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! conclusion-string "valueString" : "<string>", // C? Summary conclusion (interpretation/impression) "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Gene Studied C? "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48018-6 "valueCodeableConcept" : {CodeableConcept}, // C? R! The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Cytogenetic (Chromosome) Location C? "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48001-2 "valueCodeableConcept" : {CodeableConcept}, // C? R! Example: 1q21.1 "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Human Reference Sequence Assembly C? "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 62374-4 "valueCodeableConcept" : {CodeableConcept}, // C? R! GRCh37 | GRCh38 | ... "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Chromosome Identifier C? "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48000-4 "valueCodeableConcept" : {CodeableConcept}, // C? R! Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // DNA change (c.HGVS) C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48004-6 "valueCodeableConcept" : {CodeableConcept}, // C? R! A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic (gDNA) Change - gHGVS C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81290-9 "valueCodeableConcept" : {CodeableConcept}, // C? R! A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Cytogenomic Nomenclature (ISCN) C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81291-7 "valueCodeableConcept" : {CodeableConcept}, // C? R! Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic Reference Sequence C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48013-7 "valueCodeableConcept" : {CodeableConcept}, // C? R! Versioned genomic reference sequence identifier "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Protein Reference Sequence C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! protein-ref-seq "valueCodeableConcept" : {CodeableConcept}, // C? R! Versioned protein reference sequence identifier "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Reference Transcript C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 51958-7 "valueCodeableConcept" : {CodeableConcept}, // C? R! Versioned transcript reference sequence identifier "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Exact Start-End C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81254-5 "valueRange" : {Range}, // C? Range in question. 'High' can be omitted for single nucleotide variants. "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Inner Start-End C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81302-2 "valueRange" : {Range}, // C? Imprecise variant inner-bounding range "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Outer Start-End C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81301-4 "valueRange" : {Range}, // C? Imprecise variant outer-bounding range "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Coordinate System C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 92822-6 "valueCodeableConcept" : {CodeableConcept}, // C? R! 0-based interval counting | 0-based character counting | 1-based character counting "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic Ref Allele C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 69547-8 "valueString" : "<string>", // C? Normalized string per the VCF format. "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic Alt Allele C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 69551-0 "valueString" : "<string>", // C? Normalized string per the VCF format. "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Coding DNA Change Type C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48019-4 "valueCodeableConcept" : {CodeableConcept}, // C? R! deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic Source Class C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48002-0 "valueCodeableConcept" : {CodeableConcept}, // C? R! Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Sample Allelic Frequency C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81258-6 "valueQuantity" : { // C? Relative frequency in the sample "extension": [ ], "value" : <decimal>, // C? Numerical value (with implicit precision) "comparator" : "<code>", // C? < | <= | >= | > - how to understand the value "unit" : "<string>", // C? Unit representation "system" : "<uri>", // C? System that defines coded unit form "code" : "<code>" // C? Coded form of the unit }, "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Allelic Read Depth C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 82121-5 "valueQuantity" : {Quantity}, // C? Unfiltered count of supporting reads "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Allelic State C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 53034-5 "valueCodeableConcept" : {CodeableConcept}, // C? R! Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Origin of germline genetic variant C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 94186-4 "valueCodeableConcept" : {CodeableConcept}, // C? R! Maternal | Paternal | Unknown "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Evidential basis for variant inheritance C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! Basis for allelic phase "valueCodeableConcept" : {CodeableConcept}, // C? R! Directly measured | Family DNA | Family history | Inferred from population data "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Variation Code C? "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 81252-9 "valueCodeableConcept" : {CodeableConcept}, // C? R! ClinVar ID or similar "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Protein (Amino Acid) Change - pHGVS C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 48005-3 "valueCodeableConcept" : {CodeableConcept}, // C? R! A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Genomic Structural Variant Copy Number C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! 82155-3 // value[x]: Actual component result. One of these 2: "valueQuantity" : {Quantity}, // C? Actual component result "valueRange" : {Range}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}] // C? High, low, normal, etc. "referenceRange" : [<n/a>], // C? Provides guide for interpretation of component result }, { // Variant Confidence Status C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! variant-confidence-status "valueCodeableConcept" : {CodeableConcept}, // C? R! High | Intermediate | Low "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Repeat Motif C? "extension" : [ // sliced by value:url in the specified order Open ], "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! repeat-motif "valueString" : "<string>", // C? R! CAG "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Repeat Number C? "extension" : [ // sliced by value:url in the specified order Open ], "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : {CodeableConcept}, // C? R! repeat-number "valueQuantity" : {Quantity}, // C? R! 40 "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : { // C? Actual component result "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://varnomen.hgvs.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : { // C? Actual component result "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://varnomen.hgvs.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : { // C? Actual component result "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://varnomen.hgvs.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : { // C? Actual component result "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://www.genenames.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result }, { // Component results C? Only One! "modifierExtension" : [{Extension}], // C? Extensions that cannot be ignored even if unrecognized "code" : { // C? R! Type of component observation (code / type) "extension": [ ], "coding" : [{ // C? Code defined by a terminology system "extension": [ ], "system" : "http://loinc.org", // C? "version" : "<string>", // C? Version of the system - if relevant "code" : "<code>", // C? Symbol in syntax defined by the system "display" : "<string>", // C? Representation defined by the system "userSelected" : <boolean> // C? If this coding was chosen directly by the user }], "text" : "<string>" // C? Plain text representation of the concept }, "valueCodeableConcept" : {CodeableConcept}, // C? Actual component result "dataAbsentReason" : {CodeableConcept}, // C? Why the component result is missing "interpretation" : [{CodeableConcept}], // C? High, low, normal, etc. "referenceRange" : [<n/a>] // C? Provides guide for interpretation of component result } ], }