This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) 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/uv/genomics-reporting/StructureDefinition/variant | Version: 3.0.0 | |||
Active as of 2024-12-12 | Computable Name: Variant | |||
Copyright/Legal: This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. |
Details about a set of changes in the tested sample compared to a reference sequence.
Contents:
This profile allows a full description of the variant found using properties from a variety of testing approaches and allowing for a variety of descriptive mechanisms. Labs are encouraged to populate what properties they know. In future versions of this implementation guide, HL7 may provide additional guidance on what properties should be sent in which situations and may subdivide Variant into multiple sub-profiles with more specific purpose.
See Variant Reporting for details on use.
A variety of annotations (see variant implications) can be applied to identified variants, such as: (1) predicted molecular consequences (e.g. a prediction that a variant leads to loss of gene function); (2) diagnostic implications (e.g. presence of a variant indicates increased risk for breast cancer); (3) therapeutic implications (e.g. presence of a somatic variant is associated with sensitivity to a particular drug or eligibility into a clinical trial).
Most human genes are transcribed into multiple transcripts. The molecular consequences profile can be used to indicate transcript-specific predicted consequences, for one or more transcripts. In the Variant instance itself, one can also indicate a representative transcript-level HGVS and/or protein HGVS.
If implementers have additional variant annotations, the Variant profile is defined to allow flexibility. See the section on flexibility for additional guidancem, especially the guidance for the Open Slicing allowed on Observation.component
.
The STU2 Variant profile contained the component slice molecular-consequence
, which is no longer present in this profile. The functionality to communicate predicted molecular consequences has been moved to the Molecular Consequence profile. For those that have already implemented the STU2 solution and are in a transition, open slicing allows components above and beyond those specified in the Implementation Guide and therefore the STU2 method of communicating molecular consequence will not cause conformance errors. This approach should be used carefully and only during a transition period to ensure full compatibility with other systems that implement the full features of this guide.
Usage:
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from GenomicFinding
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | GenomicFinding | Variant | |
code | 1..1 | CodeableConcept | 69548-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
Slices for value[x] | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual result Slice: Unordered, Open by type:$this | |
value[x]:valueCodeableConcept | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) | |
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) | |
Slices for component | Content/Rules for all slices | |||
component:representative-coding-hgvs | 0..1 | BackboneElement | DNA change (c.HGVS) | |
code | 1..1 | CodeableConcept | 48004-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:genomic-hgvs | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS | |
code | 1..1 | CodeableConcept | 81290-9 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:cytogenomic-nomenclature | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) | |
code | 1..1 | CodeableConcept | 81291-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
value[x] | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined | |
component:genomic-ref-seq | 0..1 | BackboneElement | Genomic Reference Sequence | |
code | 1..1 | CodeableConcept | 48013-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
value[x] | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:representative-protein-ref-seq | 0..1 | BackboneElement | Protein Reference Sequence | |
code | 1..1 | CodeableConcept | protein-ref-seq Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |
value[x] | 1..1 | CodeableConcept | Versioned protein reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:representative-transcript-ref-seq | 0..1 | BackboneElement | Reference Transcript | |
code | 1..1 | CodeableConcept | 51958-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
value[x] | 1..1 | CodeableConcept | Versioned transcript reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:exact-start-end | 0..1 | BackboneElement | Exact Start-End | |
code | 1..1 | CodeableConcept | 81254-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |
value[x] | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. | |
component:inner-start-end | 0..1 | BackboneElement | Inner Start-End | |
code | 1..1 | CodeableConcept | 81302-2 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |
value[x] | 0..1 | Range | Imprecise variant inner-bounding range | |
component:outer-start-end | 0..1 | BackboneElement | Outer Start-End | |
code | 1..1 | CodeableConcept | 81301-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |
value[x] | 0..1 | Range | Imprecise variant outer-bounding range | |
component:coordinate-system | 0..1 | BackboneElement | Coordinate System | |
code | 1..1 | CodeableConcept | 92822-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
value[x] | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | |
component:ref-allele | 0..1 | BackboneElement | Genomic Ref Allele | |
code | 1..1 | CodeableConcept | 69547-8 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |
value[x] | 0..1 | string | Normalized string per the VCF format. | |
component:alt-allele | 0..1 | BackboneElement | Genomic Alt Allele | |
code | 1..1 | CodeableConcept | 69551-0 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |
value[x] | 0..1 | string | Normalized string per the VCF format. | |
component:coding-change-type | 0..1 | BackboneElement | Coding DNA Change Type | |
code | 1..1 | CodeableConcept | 48019-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
value[x] | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 | |
component:genomic-source-class | 0..1 | BackboneElement | Genomic Source Class | |
code | 1..1 | CodeableConcept | 48002-0 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
value[x] | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) | |
component:sample-allelic-frequency | 0..1 | BackboneElement | Sample Allelic Frequency | |
code | 1..1 | CodeableConcept | 81258-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
value[x] | 0..1 | Quantity | Relative frequency in the sample | |
system | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | |
component:allelic-read-depth | 0..1 | BackboneElement | Allelic Read Depth | |
code | 1..1 | CodeableConcept | 82121-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |
value[x] | 0..1 | Quantity | Unfiltered count of supporting reads | |
component:allelic-state | 0..1 | BackboneElement | Allelic State | |
code | 1..1 | CodeableConcept | 53034-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
value[x] | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) | |
component:variant-inheritance | 0..1 | BackboneElement | Origin of germline genetic variant | |
code | 1..1 | CodeableConcept | 94186-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |
value[x] | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) | |
component:variant-inheritance-basis | 0..1 | BackboneElement | Evidential basis for variant inheritance | |
code | 1..1 | CodeableConcept | Basis for allelic phase Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |
value[x] | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |
component:variation-code | 0..* | BackboneElement | Variation Code | |
code | 1..1 | CodeableConcept | 81252-9 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
value[x] | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable | |
component:representative-protein-hgvs | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS | |
code | 1..1 | CodeableConcept | 48005-3 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:copy-number | 0..1 | BackboneElement | Genomic Structural Variant Copy Number | |
code | 1..1 | CodeableConcept | 82155-3 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
value[x] | 0..1 | Actual component result | ||
valueQuantity | Quantity | |||
valueRange | Range | |||
component:variant-confidence-status | 0..1 | BackboneElement | Variant Confidence Status | |
code | 1..1 | CodeableConcept | variant-confidence-status Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |
value[x] | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) | |
component:repeat-motif | 0..* | BackboneElement | Repeat Motif | |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |
code | 1..1 | CodeableConcept | repeat-motif Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |
value[x] | 1..1 | string | CAG | |
component:repeat-number | 0..* | BackboneElement | Repeat Number | |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |
code | 1..1 | CodeableConcept | repeat-number Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |
value[x] | 1..1 | Quantity | 40 | |
Documentation for this format |
Path | Conformance | ValueSet | URI |
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | |
Observation.method | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | |
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:cytogenomic-nomenclature.value[x] | example |
| |
Observation.component:genomic-ref-seq.value[x] | example |
| |
Observation.component:representative-protein-ref-seq.value[x] | example |
| |
Observation.component:representative-transcript-ref-seq.value[x] | example |
| |
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | |
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | |
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | |
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | |
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | |
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | |
Observation.component:variation-code.value[x] | example |
| |
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | C | 0..* | GenomicFinding | Variant 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 |
implicitRules | ?!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 |
Slices for extension | Content/Rules for all slices | |||
secondary-finding | 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 | |
body-structure | 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 | |
modifierExtension | ?! | 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 |
status | ?!Σ | 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 |
Slices for category | 2..* | 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 | |
category:labCategory | 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 | |
coding | 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 |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
category:geCategory | 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 | |
coding | 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 |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074 | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: GE | |
code | Σ | 1..1 | CodeableConcept | 69548-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
Slices for value[x] | ΣC | 0..1 | Actual result Slice: Unordered, Open by type:$this ele-1: All FHIR elements must have a @value or children | |
valueQuantity | Quantity | |||
valueCodeableConcept | CodeableConcept | |||
valueString | string | |||
valueBoolean | boolean | |||
valueInteger | integer | |||
valueRange | Range | |||
valueRatio | Ratio | |||
valueSampledData | SampledData | |||
valueTime | time | |||
valueDateTime | dateTime | |||
valuePeriod | Period | |||
value[x]:valueCodeableConcept | ΣC | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) ele-1: All FHIR elements must have a @value or children |
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) ele-1: All FHIR elements must have a @value or children | |
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() ele-1: All FHIR elements must have a @value or children |
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by value:code ele-1: All FHIR elements must have a @value or children |
component:All Slices | Content/Rules for all slices | |||
modifierExtension | ?!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 |
code | 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 |
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
value[x] | Σ | 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 |
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48001-2 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 ele-1: All FHIR elements must have a @value or children |
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 62374-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) ele-1: All FHIR elements must have a @value or children |
component:chromosome-identifier | Σ | 0..* | BackboneElement | Chromosome Identifier ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48000-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48000-4 | |
value[x] | Σ | 1..1 | CodeableConcept | Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required) ele-1: All FHIR elements must have a @value or children |
component:representative-coding-hgvs | Σ | 0..1 | BackboneElement | DNA change (c.HGVS) ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48004-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:genomic-hgvs | Σ | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81290-9 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:cytogenomic-nomenclature | Σ | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81291-7 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
value[x] | Σ | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children |
component:genomic-ref-seq | Σ | 0..1 | BackboneElement | Genomic Reference Sequence ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
value[x] | Σ | 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 |
component:representative-protein-ref-seq | Σ | 0..1 | BackboneElement | Protein Reference Sequence ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | protein-ref-seq 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |
value[x] | Σ | 1..1 | CodeableConcept | Versioned protein 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 |
component:representative-transcript-ref-seq | Σ | 0..1 | BackboneElement | Reference Transcript ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 51958-7 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
value[x] | Σ | 1..1 | CodeableConcept | Versioned transcript 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 |
component:exact-start-end | Σ | 0..1 | BackboneElement | Exact Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81254-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |
value[x] | Σ | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. ele-1: All FHIR elements must have a @value or children |
component:inner-start-end | Σ | 0..1 | BackboneElement | Inner Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81302-2 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |
value[x] | Σ | 0..1 | Range | Imprecise variant inner-bounding range ele-1: All FHIR elements must have a @value or children |
component:outer-start-end | Σ | 0..1 | BackboneElement | Outer Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81301-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |
value[x] | Σ | 0..1 | Range | Imprecise variant outer-bounding range ele-1: All FHIR elements must have a @value or children |
component:coordinate-system | Σ | 0..1 | BackboneElement | Coordinate System ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
value[x] | Σ | 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 |
component:ref-allele | Σ | 0..1 | BackboneElement | Genomic Ref Allele ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 69547-8 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. ele-1: All FHIR elements must have a @value or children |
component:alt-allele | Σ | 0..1 | BackboneElement | Genomic Alt Allele ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 69551-0 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. ele-1: All FHIR elements must have a @value or children |
component:coding-change-type | Σ | 0..1 | BackboneElement | Coding DNA Change Type ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48019-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
value[x] | Σ | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 ele-1: All FHIR elements must have a @value or children |
component:genomic-source-class | Σ | 0..1 | BackboneElement | Genomic Source Class ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48002-0 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
value[x] | Σ | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) ele-1: All FHIR elements must have a @value or children |
component:sample-allelic-frequency | Σ | 0..1 | BackboneElement | Sample Allelic Frequency ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81258-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
value[x] | Σ | 0..1 | Quantity | Relative frequency in the sample ele-1: All FHIR elements must have a @value or children |
comparator | ?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children |
system | ΣC | 0..1 | uri | System that defines coded unit form ele-1: All FHIR elements must have a @value or children Required Pattern: http://unitsofmeasure.org |
component:allelic-read-depth | Σ | 0..1 | BackboneElement | Allelic Read Depth ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 82121-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |
value[x] | Σ | 0..1 | Quantity | Unfiltered count of supporting reads ele-1: All FHIR elements must have a @value or children |
component:allelic-state | Σ | 0..1 | BackboneElement | Allelic State ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 53034-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
value[x] | Σ | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variant-inheritance | Σ | 0..1 | BackboneElement | Origin of germline genetic variant ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 94186-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |
value[x] | Σ | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variant-inheritance-basis | Σ | 0..1 | BackboneElement | Evidential basis for variant inheritance ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | Basis for allelic phase 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |
value[x] | Σ | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variation-code | Σ | 0..* | BackboneElement | Variation Code ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81252-9 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
value[x] | Σ | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable ele-1: All FHIR elements must have a @value or children |
component:representative-protein-hgvs | Σ | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48005-3 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:copy-number | Σ | 0..1 | BackboneElement | Genomic Structural Variant Copy Number ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 82155-3 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
value[x] | Σ | 0..1 | Actual component result ele-1: All FHIR elements must have a @value or children | |
valueQuantity | Quantity | |||
valueRange | Range | |||
component:variant-confidence-status | Σ | 0..1 | BackboneElement | Variant Confidence Status ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | variant-confidence-status 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |
value[x] | Σ | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) ele-1: All FHIR elements must have a @value or children |
component:repeat-motif | Σ | 0..* | BackboneElement | Repeat Motif ele-1: All FHIR elements must have a @value or children |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | repeat-motif 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |
value[x] | Σ | 1..1 | string | CAG ele-1: All FHIR elements must have a @value or children |
component:repeat-number | Σ | 0..* | BackboneElement | Repeat Number ele-1: All FHIR elements must have a @value or children |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | repeat-number 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |
value[x] | Σ | 1..1 | Quantity | 40 ele-1: All FHIR elements must have a @value or children |
Documentation for this format |
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 | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:geCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 69548-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | |
Observation.method | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | |
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 from this IG | |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | |
Observation.component:chromosome-identifier.code | example | Pattern: LOINC Code 48000-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:chromosome-identifier.value[x] | required | LOINC LL2938-0http://loinc.org/vs/LL2938-0 | |
Observation.component:representative-coding-hgvs.code | example | Pattern: LOINC Code 48004-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:genomic-hgvs.code | example | Pattern: LOINC Code 81290-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:cytogenomic-nomenclature.code | example | Pattern: LOINC Code 81291-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:cytogenomic-nomenclature.value[x] | example | ||
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:representative-protein-ref-seq.code | example | Pattern: protein-ref-seqhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-protein-ref-seq.value[x] | example | ||
Observation.component:representative-transcript-ref-seq.code | example | Pattern: LOINC Code 51958-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-transcript-ref-seq.value[x] | example | ||
Observation.component:exact-start-end.code | example | Pattern: LOINC Code 81254-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:inner-start-end.code | example | Pattern: LOINC Code 81302-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:outer-start-end.code | example | Pattern: LOINC Code 81301-4http://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:ref-allele.code | example | Pattern: LOINC Code 69547-8http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:alt-allele.code | example | Pattern: LOINC Code 69551-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coding-change-type.code | example | Pattern: LOINC Code 48019-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | |
Observation.component:genomic-source-class.code | example | Pattern: LOINC Code 48002-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | |
Observation.component:sample-allelic-frequency.code | example | Pattern: LOINC Code 81258-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:sample-allelic-frequency.value[x].comparator | required | QuantityComparatorhttp://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard | |
Observation.component:allelic-read-depth.code | example | Pattern: LOINC Code 82121-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:allelic-state.code | example | Pattern: LOINC Code 53034-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | |
Observation.component:variant-inheritance.code | example | Pattern: LOINC Code 94186-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | |
Observation.component:variant-inheritance-basis.code | example | Pattern: LOINC Code 82309-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | |
Observation.component:variation-code.code | example | Pattern: LOINC Code 81252-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variation-code.value[x] | example | ||
Observation.component:representative-protein-hgvs.code | example | Pattern: LOINC Code 48005-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:copy-number.code | example | Pattern: LOINC Code 82155-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-confidence-status.code | example | Pattern: variant-confidence-statushttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG | |
Observation.component:repeat-motif.code | example | Pattern: repeat-motifhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:repeat-number.code | example | Pattern: repeat-numberhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | 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 : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | C | 0..* | GenomicFinding | Variant 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 | ||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
secondary-finding | 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. | |||||
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 2..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
category:geCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074 | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: GE | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
subject | Σ | 0..1 | Reference(Patient | Group | Device | Location) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
effective[x] | Σ | 0..1 | Clinically relevant time/time-period for observation | |||||
effectiveDateTime | dateTime | |||||||
effectivePeriod | Period | |||||||
effectiveTiming | Timing | |||||||
effectiveInstant | instant | |||||||
issued | Σ | 0..1 | instant | Date/Time this version was made available | ||||
performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
Slices for value[x] | ΣC | 0..1 | Actual result Slice: Unordered, Open by type:$this | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
value[x]:valueCodeableConcept | ΣC | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) | |||||
specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | |||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by value:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 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) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:chromosome-identifier | Σ | 0..* | BackboneElement | Chromosome Identifier | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48000-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-coding-hgvs | Σ | 0..1 | BackboneElement | DNA change (c.HGVS) | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-hgvs | Σ | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenomic-nomenclature | Σ | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-ref-seq | Σ | 0..1 | BackboneElement | Genomic Reference Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-protein-ref-seq | Σ | 0..1 | BackboneElement | Protein Reference Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | protein-ref-seq Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned protein reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-transcript-ref-seq | Σ | 0..1 | BackboneElement | Reference Transcript | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned transcript reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:exact-start-end | Σ | 0..1 | BackboneElement | Exact Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:inner-start-end | Σ | 0..1 | BackboneElement | Inner Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Imprecise variant inner-bounding range | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:outer-start-end | Σ | 0..1 | BackboneElement | Outer Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Imprecise variant outer-bounding range | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:coordinate-system | Σ | 0..1 | BackboneElement | Coordinate System | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:ref-allele | Σ | 0..1 | BackboneElement | Genomic Ref Allele | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:alt-allele | Σ | 0..1 | BackboneElement | Genomic Alt Allele | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:coding-change-type | Σ | 0..1 | BackboneElement | Coding DNA Change Type | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-source-class | Σ | 0..1 | BackboneElement | Genomic Source Class | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:sample-allelic-frequency | Σ | 0..1 | BackboneElement | Sample Allelic Frequency | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Quantity | Relative frequency in the sample | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
value | Σ | 0..1 | decimal | Numerical value (with implicit precision) | ||||
comparator | ?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. | ||||
unit | Σ | 0..1 | string | Unit representation | ||||
system | ΣC | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | ||||
code | Σ | 0..1 | code | Coded form of the unit | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:allelic-read-depth | Σ | 0..1 | BackboneElement | Allelic Read Depth | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Quantity | Unfiltered count of supporting reads | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:allelic-state | Σ | 0..1 | BackboneElement | Allelic State | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-inheritance | Σ | 0..1 | BackboneElement | Origin of germline genetic variant | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 94186-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-inheritance-basis | Σ | 0..1 | BackboneElement | Evidential basis for variant inheritance | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Basis for allelic phase Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variation-code | Σ | 0..* | BackboneElement | Variation Code | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-protein-hgvs | Σ | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:copy-number | Σ | 0..1 | BackboneElement | Genomic Structural Variant Copy Number | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueRange | Range | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-confidence-status | Σ | 0..1 | BackboneElement | Variant Confidence Status | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:repeat-motif | Σ | 0..* | BackboneElement | Repeat Motif | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | repeat-motif Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | string | CAG | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:repeat-number | Σ | 0..* | BackboneElement | Repeat Number | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | repeat-number Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | Quantity | 40 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
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 | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:geCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 69548-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | ||||
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 | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | ||||
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 from this IG | ||||
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:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenetic-location.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | ||||
Observation.component:reference-sequence-assembly.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:chromosome-identifier.code | example | Pattern: LOINC Code 48000-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:chromosome-identifier.value[x] | required | LOINC LL2938-0http://loinc.org/vs/LL2938-0 | ||||
Observation.component:chromosome-identifier.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:chromosome-identifier.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.code | example | Pattern: LOINC Code 48004-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:representative-coding-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-hgvs.code | example | Pattern: LOINC Code 81290-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:genomic-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.code | example | Pattern: LOINC Code 81291-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.value[x] | example | |||||
Observation.component:cytogenomic-nomenclature.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.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:representative-protein-ref-seq.code | example | Pattern: protein-ref-seqhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-protein-ref-seq.value[x] | example | |||||
Observation.component:representative-protein-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-protein-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.code | example | Pattern: LOINC Code 51958-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.value[x] | example | |||||
Observation.component:representative-transcript-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:exact-start-end.code | example | Pattern: LOINC Code 81254-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:exact-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:exact-start-end.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:inner-start-end.code | example | Pattern: LOINC Code 81302-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:inner-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:inner-start-end.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:outer-start-end.code | example | Pattern: LOINC Code 81301-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:outer-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:outer-start-end.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:ref-allele.code | example | Pattern: LOINC Code 69547-8http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:ref-allele.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:ref-allele.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:alt-allele.code | example | Pattern: LOINC Code 69551-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:alt-allele.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:alt-allele.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:coding-change-type.code | example | Pattern: LOINC Code 48019-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | ||||
Observation.component:coding-change-type.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:coding-change-type.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-source-class.code | example | Pattern: LOINC Code 48002-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | ||||
Observation.component:genomic-source-class.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-source-class.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.code | example | Pattern: LOINC Code 81258-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.value[x].comparator | required | QuantityComparatorhttp://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:allelic-read-depth.code | example | Pattern: LOINC Code 82121-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:allelic-read-depth.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:allelic-read-depth.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:allelic-state.code | example | Pattern: LOINC Code 53034-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | ||||
Observation.component:allelic-state.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:allelic-state.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-inheritance.code | example | Pattern: LOINC Code 94186-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | ||||
Observation.component:variant-inheritance.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-inheritance.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.code | example | Pattern: LOINC Code 82309-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | ||||
Observation.component:variant-inheritance-basis.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variation-code.code | example | Pattern: LOINC Code 81252-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variation-code.value[x] | example | |||||
Observation.component:variation-code.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variation-code.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.code | example | Pattern: LOINC Code 48005-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:representative-protein-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:copy-number.code | example | Pattern: LOINC Code 82155-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:copy-number.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:copy-number.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-confidence-status.code | example | Pattern: variant-confidence-statushttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG | ||||
Observation.component:variant-confidence-status.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-confidence-status.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:repeat-motif.code | example | Pattern: repeat-motifhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:repeat-motif.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:repeat-motif.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:repeat-number.code | example | Pattern: repeat-numberhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:repeat-number.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:repeat-number.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | 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 : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
This structure is derived from GenomicFinding
Summary
Mandatory: 0 element(17 nested mandatory elements)
Extensions
This structure refers to these extensions:
Slices
This structure defines the following Slices:
Differential View
This structure is derived from GenomicFinding
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | GenomicFinding | Variant | |
code | 1..1 | CodeableConcept | 69548-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
Slices for value[x] | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual result Slice: Unordered, Open by type:$this | |
value[x]:valueCodeableConcept | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) | |
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) | |
Slices for component | Content/Rules for all slices | |||
component:representative-coding-hgvs | 0..1 | BackboneElement | DNA change (c.HGVS) | |
code | 1..1 | CodeableConcept | 48004-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:genomic-hgvs | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS | |
code | 1..1 | CodeableConcept | 81290-9 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:cytogenomic-nomenclature | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) | |
code | 1..1 | CodeableConcept | 81291-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
value[x] | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined | |
component:genomic-ref-seq | 0..1 | BackboneElement | Genomic Reference Sequence | |
code | 1..1 | CodeableConcept | 48013-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
value[x] | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:representative-protein-ref-seq | 0..1 | BackboneElement | Protein Reference Sequence | |
code | 1..1 | CodeableConcept | protein-ref-seq Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |
value[x] | 1..1 | CodeableConcept | Versioned protein reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:representative-transcript-ref-seq | 0..1 | BackboneElement | Reference Transcript | |
code | 1..1 | CodeableConcept | 51958-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
value[x] | 1..1 | CodeableConcept | Versioned transcript reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | |
component:exact-start-end | 0..1 | BackboneElement | Exact Start-End | |
code | 1..1 | CodeableConcept | 81254-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |
value[x] | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. | |
component:inner-start-end | 0..1 | BackboneElement | Inner Start-End | |
code | 1..1 | CodeableConcept | 81302-2 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |
value[x] | 0..1 | Range | Imprecise variant inner-bounding range | |
component:outer-start-end | 0..1 | BackboneElement | Outer Start-End | |
code | 1..1 | CodeableConcept | 81301-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |
value[x] | 0..1 | Range | Imprecise variant outer-bounding range | |
component:coordinate-system | 0..1 | BackboneElement | Coordinate System | |
code | 1..1 | CodeableConcept | 92822-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
value[x] | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | |
component:ref-allele | 0..1 | BackboneElement | Genomic Ref Allele | |
code | 1..1 | CodeableConcept | 69547-8 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |
value[x] | 0..1 | string | Normalized string per the VCF format. | |
component:alt-allele | 0..1 | BackboneElement | Genomic Alt Allele | |
code | 1..1 | CodeableConcept | 69551-0 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |
value[x] | 0..1 | string | Normalized string per the VCF format. | |
component:coding-change-type | 0..1 | BackboneElement | Coding DNA Change Type | |
code | 1..1 | CodeableConcept | 48019-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
value[x] | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 | |
component:genomic-source-class | 0..1 | BackboneElement | Genomic Source Class | |
code | 1..1 | CodeableConcept | 48002-0 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
value[x] | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) | |
component:sample-allelic-frequency | 0..1 | BackboneElement | Sample Allelic Frequency | |
code | 1..1 | CodeableConcept | 81258-6 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
value[x] | 0..1 | Quantity | Relative frequency in the sample | |
system | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | |
component:allelic-read-depth | 0..1 | BackboneElement | Allelic Read Depth | |
code | 1..1 | CodeableConcept | 82121-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |
value[x] | 0..1 | Quantity | Unfiltered count of supporting reads | |
component:allelic-state | 0..1 | BackboneElement | Allelic State | |
code | 1..1 | CodeableConcept | 53034-5 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
value[x] | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) | |
component:variant-inheritance | 0..1 | BackboneElement | Origin of germline genetic variant | |
code | 1..1 | CodeableConcept | 94186-4 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |
value[x] | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) | |
component:variant-inheritance-basis | 0..1 | BackboneElement | Evidential basis for variant inheritance | |
code | 1..1 | CodeableConcept | Basis for allelic phase Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |
value[x] | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |
component:variation-code | 0..* | BackboneElement | Variation Code | |
code | 1..1 | CodeableConcept | 81252-9 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
value[x] | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable | |
component:representative-protein-hgvs | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS | |
code | 1..1 | CodeableConcept | 48005-3 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
value[x] | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | |
component:copy-number | 0..1 | BackboneElement | Genomic Structural Variant Copy Number | |
code | 1..1 | CodeableConcept | 82155-3 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
value[x] | 0..1 | Actual component result | ||
valueQuantity | Quantity | |||
valueRange | Range | |||
component:variant-confidence-status | 0..1 | BackboneElement | Variant Confidence Status | |
code | 1..1 | CodeableConcept | variant-confidence-status Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |
value[x] | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) | |
component:repeat-motif | 0..* | BackboneElement | Repeat Motif | |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |
code | 1..1 | CodeableConcept | repeat-motif Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |
value[x] | 1..1 | string | CAG | |
component:repeat-number | 0..* | BackboneElement | Repeat Number | |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |
code | 1..1 | CodeableConcept | repeat-number Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |
value[x] | 1..1 | Quantity | 40 | |
Documentation for this format |
Path | Conformance | ValueSet | URI |
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | |
Observation.method | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | |
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:cytogenomic-nomenclature.value[x] | example |
| |
Observation.component:genomic-ref-seq.value[x] | example |
| |
Observation.component:representative-protein-ref-seq.value[x] | example |
| |
Observation.component:representative-transcript-ref-seq.value[x] | example |
| |
Observation.component:coordinate-system.value[x] | extensible | LOINC LL5323-2http://loinc.org/vs/LL5323-2 | |
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | |
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | |
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | |
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | |
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | |
Observation.component:variation-code.value[x] | example |
| |
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG |
Key Elements View
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | C | 0..* | GenomicFinding | Variant 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 |
implicitRules | ?!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 |
Slices for extension | Content/Rules for all slices | |||
secondary-finding | 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 | |
body-structure | 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 | |
modifierExtension | ?! | 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 |
status | ?!Σ | 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 |
Slices for category | 2..* | 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 | |
category:labCategory | 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 | |
coding | 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 |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
category:geCategory | 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 | |
coding | 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 |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074 | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: GE | |
code | Σ | 1..1 | CodeableConcept | 69548-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
Slices for value[x] | ΣC | 0..1 | Actual result Slice: Unordered, Open by type:$this ele-1: All FHIR elements must have a @value or children | |
valueQuantity | Quantity | |||
valueCodeableConcept | CodeableConcept | |||
valueString | string | |||
valueBoolean | boolean | |||
valueInteger | integer | |||
valueRange | Range | |||
valueRatio | Ratio | |||
valueSampledData | SampledData | |||
valueTime | time | |||
valueDateTime | dateTime | |||
valuePeriod | Period | |||
value[x]:valueCodeableConcept | ΣC | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) ele-1: All FHIR elements must have a @value or children |
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) ele-1: All FHIR elements must have a @value or children | |
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() ele-1: All FHIR elements must have a @value or children |
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by value:code ele-1: All FHIR elements must have a @value or children |
component:All Slices | Content/Rules for all slices | |||
modifierExtension | ?!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 |
code | 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 |
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
value[x] | Σ | 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 |
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48001-2 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 ele-1: All FHIR elements must have a @value or children |
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 62374-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) ele-1: All FHIR elements must have a @value or children |
component:chromosome-identifier | Σ | 0..* | BackboneElement | Chromosome Identifier ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48000-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48000-4 | |
value[x] | Σ | 1..1 | CodeableConcept | Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required) ele-1: All FHIR elements must have a @value or children |
component:representative-coding-hgvs | Σ | 0..1 | BackboneElement | DNA change (c.HGVS) ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48004-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:genomic-hgvs | Σ | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81290-9 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:cytogenomic-nomenclature | Σ | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81291-7 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
value[x] | Σ | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children |
component:genomic-ref-seq | Σ | 0..1 | BackboneElement | Genomic Reference Sequence ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
value[x] | Σ | 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 |
component:representative-protein-ref-seq | Σ | 0..1 | BackboneElement | Protein Reference Sequence ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | protein-ref-seq 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |
value[x] | Σ | 1..1 | CodeableConcept | Versioned protein 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 |
component:representative-transcript-ref-seq | Σ | 0..1 | BackboneElement | Reference Transcript ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 51958-7 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
value[x] | Σ | 1..1 | CodeableConcept | Versioned transcript 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 |
component:exact-start-end | Σ | 0..1 | BackboneElement | Exact Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81254-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |
value[x] | Σ | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. ele-1: All FHIR elements must have a @value or children |
component:inner-start-end | Σ | 0..1 | BackboneElement | Inner Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81302-2 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |
value[x] | Σ | 0..1 | Range | Imprecise variant inner-bounding range ele-1: All FHIR elements must have a @value or children |
component:outer-start-end | Σ | 0..1 | BackboneElement | Outer Start-End ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81301-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |
value[x] | Σ | 0..1 | Range | Imprecise variant outer-bounding range ele-1: All FHIR elements must have a @value or children |
component:coordinate-system | Σ | 0..1 | BackboneElement | Coordinate System ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
value[x] | Σ | 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 |
component:ref-allele | Σ | 0..1 | BackboneElement | Genomic Ref Allele ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 69547-8 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. ele-1: All FHIR elements must have a @value or children |
component:alt-allele | Σ | 0..1 | BackboneElement | Genomic Alt Allele ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 69551-0 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. ele-1: All FHIR elements must have a @value or children |
component:coding-change-type | Σ | 0..1 | BackboneElement | Coding DNA Change Type ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48019-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
value[x] | Σ | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 ele-1: All FHIR elements must have a @value or children |
component:genomic-source-class | Σ | 0..1 | BackboneElement | Genomic Source Class ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48002-0 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
value[x] | Σ | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) ele-1: All FHIR elements must have a @value or children |
component:sample-allelic-frequency | Σ | 0..1 | BackboneElement | Sample Allelic Frequency ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81258-6 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
value[x] | Σ | 0..1 | Quantity | Relative frequency in the sample ele-1: All FHIR elements must have a @value or children |
comparator | ?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children |
system | ΣC | 0..1 | uri | System that defines coded unit form ele-1: All FHIR elements must have a @value or children Required Pattern: http://unitsofmeasure.org |
component:allelic-read-depth | Σ | 0..1 | BackboneElement | Allelic Read Depth ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 82121-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |
value[x] | Σ | 0..1 | Quantity | Unfiltered count of supporting reads ele-1: All FHIR elements must have a @value or children |
component:allelic-state | Σ | 0..1 | BackboneElement | Allelic State ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 53034-5 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
value[x] | Σ | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variant-inheritance | Σ | 0..1 | BackboneElement | Origin of germline genetic variant ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 94186-4 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |
value[x] | Σ | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variant-inheritance-basis | Σ | 0..1 | BackboneElement | Evidential basis for variant inheritance ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | Basis for allelic phase 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |
value[x] | Σ | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) ele-1: All FHIR elements must have a @value or children |
component:variation-code | Σ | 0..* | BackboneElement | Variation Code ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 81252-9 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
value[x] | Σ | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable ele-1: All FHIR elements must have a @value or children |
component:representative-protein-hgvs | Σ | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 48005-3 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) ele-1: All FHIR elements must have a @value or children |
component:copy-number | Σ | 0..1 | BackboneElement | Genomic Structural Variant Copy Number ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | 82155-3 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
value[x] | Σ | 0..1 | Actual component result ele-1: All FHIR elements must have a @value or children | |
valueQuantity | Quantity | |||
valueRange | Range | |||
component:variant-confidence-status | Σ | 0..1 | BackboneElement | Variant Confidence Status ele-1: All FHIR elements must have a @value or children |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | variant-confidence-status 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |
value[x] | Σ | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) ele-1: All FHIR elements must have a @value or children |
component:repeat-motif | Σ | 0..* | BackboneElement | Repeat Motif ele-1: All FHIR elements must have a @value or children |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | repeat-motif 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |
value[x] | Σ | 1..1 | string | CAG ele-1: All FHIR elements must have a @value or children |
component:repeat-number | Σ | 0..* | BackboneElement | Repeat Number ele-1: All FHIR elements must have a @value or children |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
modifierExtension | ?!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 |
code | Σ | 1..1 | CodeableConcept | repeat-number 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 |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |
value[x] | Σ | 1..1 | Quantity | 40 ele-1: All FHIR elements must have a @value or children |
Documentation for this format |
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 | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:geCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 69548-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | |
Observation.method | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | |
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 from this IG | |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | |
Observation.component:chromosome-identifier.code | example | Pattern: LOINC Code 48000-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:chromosome-identifier.value[x] | required | LOINC LL2938-0http://loinc.org/vs/LL2938-0 | |
Observation.component:representative-coding-hgvs.code | example | Pattern: LOINC Code 48004-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:genomic-hgvs.code | example | Pattern: LOINC Code 81290-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:cytogenomic-nomenclature.code | example | Pattern: LOINC Code 81291-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:cytogenomic-nomenclature.value[x] | example | ||
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:representative-protein-ref-seq.code | example | Pattern: protein-ref-seqhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-protein-ref-seq.value[x] | example | ||
Observation.component:representative-transcript-ref-seq.code | example | Pattern: LOINC Code 51958-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-transcript-ref-seq.value[x] | example | ||
Observation.component:exact-start-end.code | example | Pattern: LOINC Code 81254-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:inner-start-end.code | example | Pattern: LOINC Code 81302-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:outer-start-end.code | example | Pattern: LOINC Code 81301-4http://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:ref-allele.code | example | Pattern: LOINC Code 69547-8http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:alt-allele.code | example | Pattern: LOINC Code 69551-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coding-change-type.code | example | Pattern: LOINC Code 48019-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | |
Observation.component:genomic-source-class.code | example | Pattern: LOINC Code 48002-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | |
Observation.component:sample-allelic-frequency.code | example | Pattern: LOINC Code 81258-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:sample-allelic-frequency.value[x].comparator | required | QuantityComparatorhttp://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard | |
Observation.component:allelic-read-depth.code | example | Pattern: LOINC Code 82121-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:allelic-state.code | example | Pattern: LOINC Code 53034-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | |
Observation.component:variant-inheritance.code | example | Pattern: LOINC Code 94186-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | |
Observation.component:variant-inheritance-basis.code | example | Pattern: LOINC Code 82309-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | |
Observation.component:variation-code.code | example | Pattern: LOINC Code 81252-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variation-code.value[x] | example | ||
Observation.component:representative-protein-hgvs.code | example | Pattern: LOINC Code 48005-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | |
Observation.component:copy-number.code | example | Pattern: LOINC Code 82155-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-confidence-status.code | example | Pattern: variant-confidence-statushttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG | |
Observation.component:repeat-motif.code | example | Pattern: repeat-motifhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:repeat-number.code | example | Pattern: repeat-numberhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | 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 : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
Snapshot View
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | C | 0..* | GenomicFinding | Variant 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 | ||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
secondary-finding | 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. | |||||
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 2..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
category:geCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..1 | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074 | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: GE | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
subject | Σ | 0..1 | Reference(Patient | Group | Device | Location) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
effective[x] | Σ | 0..1 | Clinically relevant time/time-period for observation | |||||
effectiveDateTime | dateTime | |||||||
effectivePeriod | Period | |||||||
effectiveTiming | Timing | |||||||
effectiveInstant | instant | |||||||
issued | Σ | 0..1 | instant | Date/Time this version was made available | ||||
performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
Slices for value[x] | ΣC | 0..1 | Actual result Slice: Unordered, Open by type:$this | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
value[x]:valueCodeableConcept | ΣC | 0..1 | CodeableConcept | Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible) | |||||
specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | |||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by value:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 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) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:chromosome-identifier | Σ | 0..* | BackboneElement | Chromosome Identifier | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48000-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-coding-hgvs | Σ | 0..1 | BackboneElement | DNA change (c.HGVS) | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-hgvs | Σ | 0..1 | BackboneElement | Genomic (gDNA) Change - gHGVS | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenomic-nomenclature | Σ | 0..1 | BackboneElement | Cytogenomic Nomenclature (ISCN) | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Actual component result Binding Description (No ValueSet): (example): Binding not yet defined | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-ref-seq | Σ | 0..1 | BackboneElement | Genomic Reference Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned genomic reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-protein-ref-seq | Σ | 0..1 | BackboneElement | Protein Reference Sequence | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | protein-ref-seq Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: protein-ref-seq | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned protein reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-transcript-ref-seq | Σ | 0..1 | BackboneElement | Reference Transcript | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Versioned transcript reference sequence identifier Binding Description (No ValueSet): (example): Multiple bindings acceptable (NCBI or LRG) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:exact-start-end | Σ | 0..1 | BackboneElement | Exact Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81254-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Range in question. 'High' can be omitted for single nucleotide variants. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:inner-start-end | Σ | 0..1 | BackboneElement | Inner Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81302-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Imprecise variant inner-bounding range | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:outer-start-end | Σ | 0..1 | BackboneElement | Outer Start-End | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81301-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Range | Imprecise variant outer-bounding range | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:coordinate-system | Σ | 0..1 | BackboneElement | Coordinate System | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | 0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:ref-allele | Σ | 0..1 | BackboneElement | Genomic Ref Allele | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:alt-allele | Σ | 0..1 | BackboneElement | Genomic Alt Allele | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Normalized string per the VCF format. | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:coding-change-type | Σ | 0..1 | BackboneElement | Coding DNA Change Type | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:genomic-source-class | Σ | 0..1 | BackboneElement | Genomic Source Class | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:sample-allelic-frequency | Σ | 0..1 | BackboneElement | Sample Allelic Frequency | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Quantity | Relative frequency in the sample | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
value | Σ | 0..1 | decimal | Numerical value (with implicit precision) | ||||
comparator | ?!Σ | 0..1 | code | < | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. | ||||
unit | Σ | 0..1 | string | Unit representation | ||||
system | ΣC | 0..1 | uri | System that defines coded unit form Required Pattern: http://unitsofmeasure.org | ||||
code | Σ | 0..1 | code | Coded form of the unit | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:allelic-read-depth | Σ | 0..1 | BackboneElement | Allelic Read Depth | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Quantity | Unfiltered count of supporting reads | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:allelic-state | Σ | 0..1 | BackboneElement | Allelic State | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-inheritance | Σ | 0..1 | BackboneElement | Origin of germline genetic variant | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 94186-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 94186-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-inheritance-basis | Σ | 0..1 | BackboneElement | Evidential basis for variant inheritance | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Basis for allelic phase Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82309-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variation-code | Σ | 0..* | BackboneElement | Variation Code | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | ClinVar ID or similar Binding Description (No ValueSet): (example): Multiple bindings acceptable | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:representative-protein-hgvs | Σ | 0..1 | BackboneElement | Protein (Amino Acid) Change - pHGVS | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:copy-number | Σ | 0..1 | BackboneElement | Genomic Structural Variant Copy Number | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueRange | Range | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:variant-confidence-status | Σ | 0..1 | BackboneElement | Variant Confidence Status | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-confidence-status | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | High | Intermediate | Low Binding: Variant Confidence Status (required) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:repeat-motif | Σ | 0..* | BackboneElement | Repeat Motif | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | repeat-motif Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-motif | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | string | CAG | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:repeat-number | Σ | 0..* | BackboneElement | Repeat Number | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
repeat-motif-order | 0..1 | positiveInt | Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | repeat-number Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: repeat-number | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | Quantity | 40 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
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 | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:geCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 69548-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.value[x]:valueCodeableConcept | required | LOINC LL1971-2http://loinc.org/vs/LL1971-2 | ||||
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 | extensible | LOINC LL4048-6http://loinc.org/vs/LL4048-6 | ||||
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 from this IG | ||||
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:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenetic-location.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | ||||
Observation.component:reference-sequence-assembly.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:chromosome-identifier.code | example | Pattern: LOINC Code 48000-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:chromosome-identifier.value[x] | required | LOINC LL2938-0http://loinc.org/vs/LL2938-0 | ||||
Observation.component:chromosome-identifier.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:chromosome-identifier.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.code | example | Pattern: LOINC Code 48004-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:representative-coding-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-coding-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-hgvs.code | example | Pattern: LOINC Code 81290-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:genomic-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.code | example | Pattern: LOINC Code 81291-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.value[x] | example | |||||
Observation.component:cytogenomic-nomenclature.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenomic-nomenclature.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:representative-protein-ref-seq.code | example | Pattern: protein-ref-seqhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-protein-ref-seq.value[x] | example | |||||
Observation.component:representative-protein-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-protein-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.code | example | Pattern: LOINC Code 51958-7http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.value[x] | example | |||||
Observation.component:representative-transcript-ref-seq.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-transcript-ref-seq.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:exact-start-end.code | example | Pattern: LOINC Code 81254-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:exact-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:exact-start-end.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:inner-start-end.code | example | Pattern: LOINC Code 81302-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:inner-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:inner-start-end.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:outer-start-end.code | example | Pattern: LOINC Code 81301-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:outer-start-end.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:outer-start-end.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:ref-allele.code | example | Pattern: LOINC Code 69547-8http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:ref-allele.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:ref-allele.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:alt-allele.code | example | Pattern: LOINC Code 69551-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:alt-allele.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:alt-allele.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:coding-change-type.code | example | Pattern: LOINC Code 48019-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:coding-change-type.value[x] | extensible | DNAChangeTypeVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs from this IG | ||||
Observation.component:coding-change-type.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:coding-change-type.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:genomic-source-class.code | example | Pattern: LOINC Code 48002-0http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:genomic-source-class.value[x] | extensible | LOINC LL378-1http://loinc.org/vs/LL378-1 | ||||
Observation.component:genomic-source-class.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:genomic-source-class.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.code | example | Pattern: LOINC Code 81258-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.value[x].comparator | required | QuantityComparatorhttp://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:sample-allelic-frequency.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:allelic-read-depth.code | example | Pattern: LOINC Code 82121-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:allelic-read-depth.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:allelic-read-depth.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:allelic-state.code | example | Pattern: LOINC Code 53034-5http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:allelic-state.value[x] | extensible | LOINC LL381-5http://loinc.org/vs/LL381-5 | ||||
Observation.component:allelic-state.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:allelic-state.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-inheritance.code | example | Pattern: LOINC Code 94186-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-inheritance.value[x] | extensible | LOINC LL5489-1http://loinc.org/vs/LL5489-1 | ||||
Observation.component:variant-inheritance.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-inheritance.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.code | example | Pattern: LOINC Code 82309-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.value[x] | extensible | LOINC LL4050-2http://loinc.org/vs/LL4050-2 | ||||
Observation.component:variant-inheritance-basis.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-inheritance-basis.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variation-code.code | example | Pattern: LOINC Code 81252-9http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variation-code.value[x] | example | |||||
Observation.component:variation-code.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variation-code.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.code | example | Pattern: LOINC Code 48005-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.value[x] | required | HGVSVShttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs from this IG | ||||
Observation.component:representative-protein-hgvs.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:representative-protein-hgvs.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:copy-number.code | example | Pattern: LOINC Code 82155-3http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:copy-number.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:copy-number.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:variant-confidence-status.code | example | Pattern: variant-confidence-statushttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:variant-confidence-status.value[x] | required | VariantConfidenceStatusVS (a valid code from Variant Confidence Status Codes)http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs from this IG | ||||
Observation.component:variant-confidence-status.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:variant-confidence-status.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:repeat-motif.code | example | Pattern: repeat-motifhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:repeat-motif.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:repeat-motif.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:repeat-number.code | example | Pattern: repeat-numberhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:repeat-number.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:repeat-number.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | 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 : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
This structure is derived from GenomicFinding
Summary
Mandatory: 0 element(17 nested mandatory elements)
Extensions
This structure refers to these extensions:
Slices
This structure defines the following Slices:
Other representations of profile: CSV, Excel, Schematron