This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0: STU4) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
Official URL: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-region-studied | Version: 4.0.0 | |||
Active as of 2025-02-16 | Maturity Level: 1 | Computable Name: GenomicRegionStudied | ||
Other Identifiers: OID:2.16.840.1.113883.4.642.40.15.42.18 |
A subset of genes or genomic regions of interest in a targeted resequencing study.
This profile identifies a specific region analyzed for gene mutations or variants in a given genomic test. For example, exome sequencing tests could analyze multiple non-contiguous regions. Each region is designated by a range of start and end location and referencing a coordinate system which is 0-based or 1-based.
RegionStudied is noted at the GenomicsReport level and not directly tied to a given GenomicVariant.
Observation resources associated with an in-scope patient with DiagnosticReport.code
LOINC 53041-0
SHALL conform to this profile. Beyond this requirement, a producer of resources SHOULD ensure that any resource instance associated with an in-scope patient that would reasonably be expected to conform to this profile SHOULD be published in this form.
Usage:
Changes since version true:
Description of Profiles, Differentials, Snapshots and how the different presentations work.
Name | Flags | Card. | Type | Description & Constraints![]() |
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C | 0..* | RegionStudied | Region Studied dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
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?!Σ | 0..1 | uri | A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children |
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Content/Rules for all slices | |||
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0..1 | CodeableConcept | 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 Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
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0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
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?! | 0..* | Extension | Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children |
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S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children |
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1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following | |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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Σ | 1..1 | Coding | Code defined by a terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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SΣ | 1..1 | CodeableConcept | 53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 53041-0 | |
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SΣ | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this ele-1: All FHIR elements must have a @value or children | |
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dateTime | |||
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Period | |||
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Timing | |||
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instant | |||
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SΣ | 0..1 | dateTime | Clinically relevant time/time-period for observation ele-1: All FHIR elements must have a @value or children |
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SC | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code ele-1: All FHIR elements must have a @value or children |
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Content/Rules for all slices | |||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children |
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Σ | 0..1 | BackboneElement | Clinical Conclusion ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
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SΣ | 0..1 | BackboneElement | Gene Studied ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
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SΣ | 1..1 | CodeableConcept | 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. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Gene Mutations ID ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 36908-2 | |
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SΣ | 1..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Region Description ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 81293-3 | |
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SΣ | 0..1 | string | Actual component result ele-1: All FHIR elements must have a @value or children |
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Σ | 0..1 | BackboneElement | Region Coverage ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: region-coverage | |
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SΣ | 0..* | BackboneElement | Range(s) of DNA sequence examined ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 51959-5 | |
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SΣ | 0..1 | Range | Actual component result ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Coordinate System ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
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SΣ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Genomic Reference Sequence ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
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SΣ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) ele-1: All FHIR elements must have a @value or children |
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Σ | 0..* | BackboneElement | Uncallable Sub-regions ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: uncallable-regions | |
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Path | Conformance | ValueSet / Code | URI |
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | |
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:labCategory | preferred | Pattern: laboratoryhttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 53041-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | |
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.value[x] | extensible | HGNCVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs | |
Observation.component:gene-mutations.code | example | Pattern: LOINC Code 36908-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-mutations.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs | |
Observation.component:region-description.code | example | Pattern: LOINC Code 81293-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:region-coverage.code | example | Pattern: region-coveragehttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:ranges-examined.code | example | Pattern: LOINC Code 51959-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coordinate-system.code | example | Pattern: LOINC Code 92822-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | |
Observation.component:genomic-ref-seq.code | example | Pattern: LOINC Code 48013-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-ref-seq.value[x] | example | ||
Observation.component:uncallable-regions.code | example | Pattern: uncallable-regionshttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard |
This structure is derived from RegionStudied
Name | Flags | Card. | Type | Description & Constraints![]() |
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0..* | RegionStudied | Region Studied | |
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S | 1..1 | code | registered | preliminary | final | amended + |
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S | 1..* | CodeableConcept | Classification of type of observation |
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Content/Rules for all slices | |||
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1..1 | CodeableConcept | Classification of type of observation Required Pattern: At least the following | |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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1..1 | Coding | Code defined by a terminology system | |
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S | 1..1 | CodeableConcept | 53041-0 |
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S | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about |
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S | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this |
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S | 0..1 | dateTime | Clinically relevant time/time-period for observation |
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0..0 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | ||
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S | 0..1 | CodeableConcept | Why the result is missing |
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S | 0..* | BackboneElement | Component results |
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Content/Rules for all slices | |||
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S | 0..1 | BackboneElement | Gene Studied |
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S | 1..1 | CodeableConcept | 48018-6 |
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S | 1..1 | CodeableConcept | 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. |
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S | 0..1 | BackboneElement | Gene Mutations ID |
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S | 1..1 | CodeableConcept | 36908-2 |
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S | 1..1 | CodeableConcept | Actual component result |
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S | 0..1 | BackboneElement | Region Description |
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S | 1..1 | CodeableConcept | 81293-3 |
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S | 0..1 | string | Actual component result |
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S | 0..* | BackboneElement | Range(s) of DNA sequence examined |
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S | 1..1 | CodeableConcept | 51959-5 |
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S | 0..1 | Range | Actual component result |
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S | 0..1 | BackboneElement | Coordinate System |
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S | 1..1 | CodeableConcept | 92822-6 |
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S | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting |
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S | 0..1 | BackboneElement | Genomic Reference Sequence |
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S | 1..1 | CodeableConcept | 48013-7 |
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S | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. |
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Name | Flags | Card. | Type | Description & Constraints![]() | ||||
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C | 0..* | RegionStudied | Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present | ||||
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Σ | 0..1 | id | Logical id of this artifact | ||||
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Σ | 0..1 | Meta | Metadata about the resource | ||||
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?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
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0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
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0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
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0..* | Resource | Contained, inline Resources | |||||
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0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
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0..1 | CodeableConcept | 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 Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |||||
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0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
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?! | 0..* | Extension | Extensions that cannot be ignored | ||||
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Σ | 0..* | Identifier | Business Identifier for observation | ||||
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Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
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Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
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?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
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S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | ||||
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1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
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Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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Σ | 0..1 | string | Plain text representation of the concept | ||||
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SΣ | 1..1 | CodeableConcept | 53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 53041-0 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about | ||||
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Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
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Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
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SΣ | 0..1 | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this | |||||
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dateTime | |||||||
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Period | |||||||
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Timing | |||||||
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instant | |||||||
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SΣ | 0..1 | dateTime | Clinically relevant time/time-period for observation | ||||
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Σ | 0..1 | instant | Date/Time this version was made available | ||||
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Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
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SC | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
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0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
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0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations. | |||||
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0..1 | Reference(Specimen) | Specimen used for this observation | |||||
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0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
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C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
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C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
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0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
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0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
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0..1 | Range | Applicable age range, if relevant | |||||
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0..1 | string | Text based reference range in an observation | |||||
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Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
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Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from | ||||
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SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
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Content/Rules for all slices | |||||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
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Σ | 0..1 | Actual component result | |||||
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Quantity | |||||||
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CodeableConcept | |||||||
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string | |||||||
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boolean | |||||||
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integer | |||||||
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Range | |||||||
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Ratio | |||||||
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SampledData | |||||||
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time | |||||||
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dateTime | |||||||
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Period | |||||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Gene Studied | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | 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. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Gene Mutations ID | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 36908-2 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Region Description | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 81293-3 | |||||
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0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
![]() ![]() ![]() ![]() ![]() |
SΣ | 0..1 | string | Actual component result | ||||
![]() ![]() ![]() ![]() ![]() |
C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Σ | 0..1 | BackboneElement | Region Coverage | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: region-coverage | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
![]() ![]() ![]() ![]() ![]() |
Σ | 0..1 | Quantity | Actual component result | ||||
![]() ![]() ![]() ![]() ![]() |
C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
![]() ![]() ![]() ![]() ![]() |
0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..* | BackboneElement | Range(s) of DNA sequence examined | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 51959-5 | |||||
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0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
![]() ![]() ![]() ![]() ![]() |
SΣ | 0..1 | Range | Actual component result | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
![]() ![]() ![]() ![]() ![]() |
0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Coordinate System | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Genomic Reference Sequence | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Σ | 0..* | BackboneElement | Uncallable Sub-regions | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: uncallable-regions | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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Σ | 0..1 | Range | Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system. | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Path | Conformance | ValueSet / Code | URI | |||
Observation.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languages from the FHIR Standard
| ||||
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | ||||
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:labCategory | preferred | Pattern: laboratoryhttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 53041-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-site from the FHIR Standard | ||||
Observation.method | example | ObservationMethodshttp://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard | ||||
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodeshttp://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard | ||||
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodeshttp://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard | ||||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:conclusion-string.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:conclusion-string.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-studied.value[x] | extensible | HGNCVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs | ||||
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-studied.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-mutations.code | example | Pattern: LOINC Code 36908-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-mutations.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs | ||||
Observation.component:gene-mutations.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-mutations.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:region-description.code | example | Pattern: LOINC Code 81293-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:region-description.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:region-description.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:region-coverage.code | example | Pattern: region-coveragehttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:region-coverage.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:region-coverage.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:ranges-examined.code | example | Pattern: LOINC Code 51959-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:ranges-examined.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:ranges-examined.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:coordinate-system.code | example | Pattern: LOINC Code 92822-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | ||||
Observation.component:coordinate-system.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:coordinate-system.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.code | example | Pattern: LOINC Code 48013-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.value[x] | example | |||||
Observation.component:genomic-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:uncallable-regions.code | example | Pattern: uncallable-regionshttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:uncallable-regions.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:uncallable-regions.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
This structure is derived from RegionStudied
Key Elements View
Name | Flags | Card. | Type | Description & Constraints![]() |
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C | 0..* | RegionStudied | Region Studied dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
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?!Σ | 0..1 | uri | A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children |
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Content/Rules for all slices | |||
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0..1 | CodeableConcept | 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 Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
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0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
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?! | 0..* | Extension | Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children |
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S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children |
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1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following | |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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Σ | 1..1 | Coding | Code defined by a terminology system ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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SΣ | 1..1 | CodeableConcept | 53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 53041-0 | |
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SΣ | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this ele-1: All FHIR elements must have a @value or children | |
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dateTime | |||
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Period | |||
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Timing | |||
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instant | |||
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SΣ | 0..1 | dateTime | Clinically relevant time/time-period for observation ele-1: All FHIR elements must have a @value or children |
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SC | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code ele-1: All FHIR elements must have a @value or children |
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Content/Rules for all slices | |||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children |
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Σ | 0..1 | BackboneElement | Clinical Conclusion ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
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SΣ | 0..1 | BackboneElement | Gene Studied ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
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SΣ | 1..1 | CodeableConcept | 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. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Gene Mutations ID ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 36908-2 | |
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SΣ | 1..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Region Description ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 81293-3 | |
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SΣ | 0..1 | string | Actual component result ele-1: All FHIR elements must have a @value or children |
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Σ | 0..1 | BackboneElement | Region Coverage ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: region-coverage | |
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SΣ | 0..* | BackboneElement | Range(s) of DNA sequence examined ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 51959-5 | |
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SΣ | 0..1 | Range | Actual component result ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Coordinate System ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
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SΣ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) ele-1: All FHIR elements must have a @value or children |
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SΣ | 0..1 | BackboneElement | Genomic Reference Sequence ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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SΣ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
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SΣ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) ele-1: All FHIR elements must have a @value or children |
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Σ | 0..* | BackboneElement | Uncallable Sub-regions ele-1: All FHIR elements must have a @value or children |
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
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Σ | 1..1 | CodeableConcept | uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children Required Pattern: At least the following |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: uncallable-regions | |
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Path | Conformance | ValueSet / Code | URI |
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | |
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:labCategory | preferred | Pattern: laboratoryhttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 53041-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | |
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.value[x] | extensible | HGNCVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs | |
Observation.component:gene-mutations.code | example | Pattern: LOINC Code 36908-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-mutations.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs | |
Observation.component:region-description.code | example | Pattern: LOINC Code 81293-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:region-coverage.code | example | Pattern: region-coveragehttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:ranges-examined.code | example | Pattern: LOINC Code 51959-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coordinate-system.code | example | Pattern: LOINC Code 92822-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | |
Observation.component:genomic-ref-seq.code | example | Pattern: LOINC Code 48013-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-ref-seq.value[x] | example | ||
Observation.component:uncallable-regions.code | example | Pattern: uncallable-regionshttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard |
Differential View
This structure is derived from RegionStudied
Name | Flags | Card. | Type | Description & Constraints![]() |
---|---|---|---|---|
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0..* | RegionStudied | Region Studied | |
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S | 1..1 | code | registered | preliminary | final | amended + |
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S | 1..* | CodeableConcept | Classification of type of observation |
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Content/Rules for all slices | |||
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1..1 | CodeableConcept | Classification of type of observation Required Pattern: At least the following | |
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
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1..1 | Coding | Code defined by a terminology system | |
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S | 1..1 | CodeableConcept | 53041-0 |
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S | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about |
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S | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this |
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S | 0..1 | dateTime | Clinically relevant time/time-period for observation |
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0..0 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | ||
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S | 0..1 | CodeableConcept | Why the result is missing |
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S | 0..* | BackboneElement | Component results |
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Content/Rules for all slices | |||
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S | 0..1 | BackboneElement | Gene Studied |
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S | 1..1 | CodeableConcept | 48018-6 |
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S | 1..1 | CodeableConcept | 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. |
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S | 0..1 | BackboneElement | Gene Mutations ID |
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S | 1..1 | CodeableConcept | 36908-2 |
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S | 1..1 | CodeableConcept | Actual component result |
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S | 0..1 | BackboneElement | Region Description |
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S | 1..1 | CodeableConcept | 81293-3 |
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S | 0..1 | string | Actual component result |
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S | 0..* | BackboneElement | Range(s) of DNA sequence examined |
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S | 1..1 | CodeableConcept | 51959-5 |
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S | 0..1 | Range | Actual component result |
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S | 0..1 | BackboneElement | Coordinate System |
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S | 1..1 | CodeableConcept | 92822-6 |
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S | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting |
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S | 0..1 | BackboneElement | Genomic Reference Sequence |
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S | 1..1 | CodeableConcept | 48013-7 |
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S | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. |
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Snapshot View
Name | Flags | Card. | Type | Description & Constraints![]() | ||||
---|---|---|---|---|---|---|---|---|
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C | 0..* | RegionStudied | Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present | ||||
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Σ | 0..1 | id | Logical id of this artifact | ||||
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Σ | 0..1 | Meta | Metadata about the resource | ||||
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?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
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0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
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0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
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0..* | Resource | Contained, inline Resources | |||||
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0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
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0..1 | CodeableConcept | 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 Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |||||
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0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
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?! | 0..* | Extension | Extensions that cannot be ignored | ||||
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Σ | 0..* | Identifier | Business Identifier for observation | ||||
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Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
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Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
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?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
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S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | ||||
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1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
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Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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Σ | 0..1 | string | Plain text representation of the concept | ||||
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SΣ | 1..1 | CodeableConcept | 53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 53041-0 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about | ||||
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Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
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Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
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SΣ | 0..1 | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this | |||||
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dateTime | |||||||
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Period | |||||||
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Timing | |||||||
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instant | |||||||
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SΣ | 0..1 | dateTime | Clinically relevant time/time-period for observation | ||||
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Σ | 0..1 | instant | Date/Time this version was made available | ||||
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Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
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SC | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
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0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
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0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations. | |||||
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0..1 | Reference(Specimen) | Specimen used for this observation | |||||
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0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
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C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
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C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
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0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
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0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
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0..1 | Range | Applicable age range, if relevant | |||||
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0..1 | string | Text based reference range in an observation | |||||
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Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
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Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from | ||||
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SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
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Content/Rules for all slices | |||||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
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Σ | 0..1 | Actual component result | |||||
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Quantity | |||||||
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CodeableConcept | |||||||
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string | |||||||
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boolean | |||||||
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integer | |||||||
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Range | |||||||
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Ratio | |||||||
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SampledData | |||||||
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time | |||||||
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dateTime | |||||||
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Period | |||||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
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0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Gene Studied | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | 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. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Gene Mutations ID | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 36908-2 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
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0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Region Description | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 81293-3 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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SΣ | 0..1 | string | Actual component result | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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Σ | 0..1 | BackboneElement | Region Coverage | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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Σ | 1..1 | CodeableConcept | region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: region-coverage | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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Σ | 0..1 | Quantity | Actual component result | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..* | BackboneElement | Range(s) of DNA sequence examined | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
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0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 51959-5 | |||||
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0..1 | string | Representation defined by the system | |||||
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0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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SΣ | 0..1 | Range | Actual component result | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
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0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
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SΣ | 0..1 | BackboneElement | Coordinate System | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
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SΣ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
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SΣ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | ||||
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C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
![]() ![]() ![]() ![]() ![]() |
0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
![]() ![]() ![]() ![]() |
SΣ | 0..1 | BackboneElement | Genomic Reference Sequence | ||||
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0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
![]() ![]() ![]() ![]() ![]() |
SΣ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
![]() ![]() ![]() ![]() ![]() |
SΣ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier. Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
![]() ![]() ![]() ![]() ![]() |
C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
![]() ![]() ![]() ![]() ![]() |
0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
![]() ![]() ![]() ![]() |
Σ | 0..* | BackboneElement | Uncallable Sub-regions | ||||
![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
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0..* | Extension | Additional content defined by implementations | |||||
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?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
![]() ![]() ![]() ![]() ![]() |
Σ | 1..1 | CodeableConcept | uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Unique id for inter-element referencing | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..* | Extension | Additional content defined by implementations | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Version of the system - if relevant | |||||
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1..1 | code | Symbol in syntax defined by the system Fixed Value: uncallable-regions | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Representation defined by the system | |||||
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | boolean | If this coding was chosen directly by the user | |||||
![]() ![]() ![]() ![]() ![]() ![]() |
0..1 | string | Plain text representation of the concept | |||||
![]() ![]() ![]() ![]() ![]() |
Σ | 0..1 | Range | Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system. | ||||
![]() ![]() ![]() ![]() ![]() |
C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
![]() ![]() ![]() ![]() ![]() |
0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
![]() ![]() ![]() ![]() ![]() |
0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
![]() |
Path | Conformance | ValueSet / Code | URI | |||
Observation.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languages from the FHIR Standard
| ||||
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | ||||
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:labCategory | preferred | Pattern: laboratoryhttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 53041-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-site from the FHIR Standard | ||||
Observation.method | example | ObservationMethodshttp://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard | ||||
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodeshttp://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard | ||||
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodeshttp://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard | ||||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:conclusion-string.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:conclusion-string.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-studied.value[x] | extensible | HGNCVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs | ||||
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-studied.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-mutations.code | example | Pattern: LOINC Code 36908-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-mutations.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs | ||||
Observation.component:gene-mutations.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-mutations.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:region-description.code | example | Pattern: LOINC Code 81293-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:region-description.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:region-description.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:region-coverage.code | example | Pattern: region-coveragehttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:region-coverage.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:region-coverage.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:ranges-examined.code | example | Pattern: LOINC Code 51959-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:ranges-examined.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:ranges-examined.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:coordinate-system.code | example | Pattern: LOINC Code 92822-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | ||||
Observation.component:coordinate-system.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:coordinate-system.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.code | example | Pattern: LOINC Code 48013-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.value[x] | example | |||||
Observation.component:genomic-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:uncallable-regions.code | example | Pattern: uncallable-regionshttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:uncallable-regions.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:uncallable-regions.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
This structure is derived from RegionStudied
Other representations of profile: CSV, Excel, Schematron