Guidance on how to interpret the contents of this table can be found here

0. Observation
Definition

Measurements and simple assertions made about a patient, device or other subject.

ShortDiagnostic ImplicationMeasurements and simple assertions
Comments

Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

Control0..*
Is Modifierfalse
Summaryfalse
Alternate NamesVital Signs, Measurement, Results, Tests
Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
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 (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: 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: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
dom-6: A resource should have narrative for robust management (text.`div`.exists())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
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 (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
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 (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
2. Observation.implicitRules
Definition

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

ShortA set of rules under which this content was created
Comments

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

Control0..1
Typeuri
Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
4. Observation.extension:secondary-finding
Slice Namesecondary-finding
Definition

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) or Whole Genome Sequencing (WGS) 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.

ShortSecondary 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
Control0..1
TypeExtension(Observation Secondary Finding) (Extension Type: CodeableConcept)
Is Modifierfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
6. Observation.extension:body-structure
Slice Namebody-structure
Definition

Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

ShortTarget anatomic location or structure
Control0..1
TypeExtension(BodyStructure Reference) (Extension Type: Reference(BodyStructure))
Is Modifierfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
8. Observation.extension:workflow-relatedArtifact
Slice Nameworkflow-relatedArtifact
Definition

Documents the 'knowledge artifacts' relevant to the base resource such as citations, supporting evidence, documentation of processes, caveats around testing methodology.

ShortDocumentation relevant to the 'parent' resource
Comments

Note that in contrast this extension, the supportingInfo extension references other resources from the patient record that were used in creating the resource.

Control0..*
TypeExtension(Related artifact) (Extension Type: RelatedArtifact)
Is Modifierfalse
Summaryfalse
Requirements

This SHOULD be used to deliver artifacts that are relevant to the implication.

Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
10. Observation.extension:genomic-risk-assessment
Slice Namegenomic-risk-assessment
Definition

RiskAssessment delivered as part of a genomics report or observation

ShortGenomic Risk Assessment
Control0..*
TypeExtension(Genomic Risk Assessment) (Extension Type: Reference(RiskAssessment))
Is Modifierfalse
Summaryfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
12. Observation.modifierExtension
Definition

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

ShortExtensions that cannot be ignored
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..*
TypeExtension
Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
Summaryfalse
Requirements

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
14. Observation.status
Definition

The status of the result value.

Shortregistered | preliminary | final | amended +
Comments

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

Control1..1
BindingThe codes SHALL be taken from ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1
(required to http://hl7.org/fhir/ValueSet/observation-status|4.0.1)

Codes providing the status of an observation.

Typecode
Is Modifiertrue because This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Summarytrue
Requirements

Need to track the status of individual results. Some results are finalized before the whole report is finalized.

Fixed Valuefinal
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
16. Observation.category
Definition

A code that classifies the general type of observation being made.

ShortClassification of type of observation
Comments

In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

Control20..*
BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category
(preferred to http://hl7.org/fhir/ValueSet/observation-category)

Codes for high level observation categories.

TypeCodeableConcept
Is Modifierfalse
Summaryfalse
Requirements

Used for filtering what observations are retrieved and displayed.

Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
SlicingThis element introduces a set of slices on Observation.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • value @ coding
  • 18. Observation.category:labCategory
    Slice NamelabCategory
    Definition

    A code that classifies the general type of observation being made.

    ShortClassification of type of observation
    Comments

    In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

    Control10..1*
    BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category
    (preferred to http://hl7.org/fhir/ValueSet/observation-category)

    Codes for high level observation categories.

    TypeCodeableConcept
    Is Modifierfalse
    Summaryfalse
    Requirements

    Used for filtering what observations are retrieved and displayed.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    20. Observation.category:labCategory.coding
    Definition

    A reference to a code defined by a terminology system.

    ShortCode defined by a terminology system
    Comments

    Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

    Control10..1*
    TypeCoding
    Is Modifierfalse
    Summarytrue
    Requirements

    Allows for alternative encodings within a code system, and translations to other code systems.

    Pattern Value{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    22. Observation.category:geCategory
    Slice NamegeCategory
    Definition

    A code that classifies the general type of observation being made.

    ShortClassification of type of observation
    Comments

    In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

    Control10..1*
    BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category
    (preferred to http://hl7.org/fhir/ValueSet/observation-category)

    Codes for high level observation categories.

    TypeCodeableConcept
    Is Modifierfalse
    Summaryfalse
    Requirements

    Used for filtering what observations are retrieved and displayed.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    24. Observation.category:geCategory.coding
    Definition

    A reference to a code defined by a terminology system.

    ShortCode defined by a terminology system
    Comments

    Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

    Control10..1*
    TypeCoding
    Is Modifierfalse
    Summarytrue
    Requirements

    Allows for alternative encodings within a code system, and translations to other code systems.

    Pattern Value{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    26. Observation.code
    Definition

    Describes what was observed. Sometimes this is called the observation "name".

    Shortdiagnostic-implicationType of observation (code / type)
    Comments

    All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

    Control1..1
    BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
    (example to http://hl7.org/fhir/ValueSet/observation-codes)

    Codes identifying names of simple observations.

    TypeCodeableConcept
    Is Modifierfalse
    Summarytrue
    Requirements

    Knowing what kind of observation is being made is essential to understanding the observation.

    Alternate NamesName
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "diagnostic-implication"
      }]
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    28. Observation.value[x]
    Definition

    The information determined as a result of making the observation, if the information has a simple value.

    ShortActual result
    Comments

    An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

    Control0..01
    This element is affected by the following invariants: obs-7
    TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Summarytrue
    Requirements

    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    30. Observation.derivedFrom
    Definition

    The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

    ShortRelated measurements the observation is made from
    Comments

    All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

    Control10..*
    TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
    Is Modifierfalse
    Summarytrue
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    SlicingThis element introduces a set of slices on Observation.derivedFrom. The slices areUnordered and Open, and can be differentiated using the following discriminators:
    • profile @ resolve()
    • 32. Observation.derivedFrom:variant
      Slice Namevariant
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortVariant the implication is derived fromRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control0..*
      TypeReference(Variant, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      34. Observation.derivedFrom:genotype
      Slice Namegenotype
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortGenotype the implication is derived fromRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control0..*
      TypeReference(Genotype, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      36. Observation.derivedFrom:haplotype
      Slice Namehaplotype
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortHaplotype the implication is derived fromRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control0..*
      TypeReference(Haplotype, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      38. Observation.derivedFrom:biomarker
      Slice Namebiomarker
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortMolecularBiomarker the implication is derived fromRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control0..*
      TypeReference(Molecular Biomarker, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      40. Observation.derivedFrom:rarelinkVariant
      Slice NamerarelinkVariant
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control10..1*
      TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      42. Observation.derivedFrom:rarelinkVariant.reference
      Definition

      A reference to a location at which the other resource is found. The reference may be a relative reference, in which case it is relative to the service base URL, or an absolute URL that resolves to the location where the resource is found. The reference may be version specific or not. If the reference is not to a FHIR RESTful server, then it should be assumed to be version specific. Internal fragment references (start with '#') refer to contained resources.

      ShortLiteral reference, Relative, internal or absolute URL
      Comments

      Using absolute URLs provides a stable scalable approach suitable for a cloud/web context, while using relative/logical references provides a flexible approach suitable for use when trading across closed eco-system boundaries. Absolute URLs do not need to point to a FHIR RESTful server, though this is the preferred approach. If the URL conforms to the structure "/[type]/[id]" then it should be assumed that the reference is to a FHIR RESTful server.

      Control10..1
      This element is affected by the following invariants: ref-1
      Typestring
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      44. Observation.component
      Definition

      Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

      ShortComponent results
      Comments

      For a discussion on the ways Observations can be assembled in groups together see Notes below.

      Control0..*
      TypeBackboneElement
      Is Modifierfalse
      Summarytrue
      Requirements

      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      SlicingThis element introduces a set of slices on Observation.component. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • value @ code
      • 46. Observation.component.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Requirements

        This SHOULD be used to deliver artifacts that are specific to the component code and value.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        48. Observation.component.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        50. Observation.component.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        ShortType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        52. Observation.component:conclusion-string
        Slice Nameconclusion-string
        Definition

        Concise and clinically contextualized summary conclusion (interpretation/impression) of the observation


        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortClinical ConclusionComponent results
        Comments

        An example would be the interpretative information, typically canned, about a variant identified in the patient.


        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Need to be able to provide a conclusion that is not lost among the basic result data.


        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        54. Observation.component:conclusion-string.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        56. Observation.component:conclusion-string.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        Shortconclusion-stringType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Pattern Value{
          "coding" : [{
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "conclusion-string"
          }]
        }
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        58. Observation.component:evidence-level
        Slice Nameevidence-level
        Definition

        The amount of observed support for the association between an implication and a variant / haplotype / genotype / biomarker. There are dozens if not hundreds of evidence-level value sets, generally providing an ordinal range of codes from low evidence (e.g. 'predicted', 'case report', '1-star') to high evidence (e.g. 'professional society guideline', 'expert panel consensus', '1A').


        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortLevel of EvidenceComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        60. Observation.component:evidence-level.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        62. Observation.component:evidence-level.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        Short93044-6Type of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Pattern Value{
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "93044-6"
          }]
        }
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        64. Observation.component:evidence-level.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        Short1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-starActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control10..1
        BindingFor example codes, see For codes, see Evidence Level Examples
        (example to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs)

        PharmGKB or ClinVar

        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        66. Observation.component:clinical-significance
        Slice Nameclinical-significance
        Definition

        The clinical impact of an implication on a person's health. There are dozens if not hundreds of clinical-significance value sets, generally providing an ordinal range of codes from low significance (e.g. 'benign') to high significance (e.g. 'pathogenic', 'oncogenic','predictive of drug response').


        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortClinical significanceComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        68. Observation.component:clinical-significance.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Requirements

        This SHOULD be used to deliver artifacts that are specific to the component code and value.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        70. Observation.component:clinical-significance.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        72. Observation.component:clinical-significance.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        Short53037-8Type of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Pattern Value{
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "53037-8"
          }]
        }
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        74. Observation.component:clinical-significance.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortPathogenic | Likely pathogenic | Uncertain significance | Likely benign | BenignActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control10..1
        BindingFor example codes, see For codes, see LOINC Answer List LL4034-6
        (example to http://loinc.org/vs/LL4034-6)
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        76. Observation.component:predicted-phenotype
        Slice Namepredicted-phenotype
        Definition

        An observable characteristic (e.g., condition; disease) of an individual, as predicted by the presence of associated molecular finding(s)associated with the variant. A code set is not specified, but it is ideal to use terms related to medical findings. Some examples are SNOMED CT descendants of 'Clinical finding' (404684003), ICD-10-CM chapters 1-18 (codes starting with letters A-R), and/or all of Human Phenotype Ontology (HPO). For example, if an individual's variant is associated with Type I Ehlers-Danlos syndrome, a valid response from SNOMED CT would be 'Ehlers-Danlos syndrome, type 1 (code 83470009)'.


        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortPredicted phenotypeComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        78. Observation.component:predicted-phenotype.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        80. Observation.component:predicted-phenotype.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        82. Observation.component:predicted-phenotype.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        Short81259-4Type of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Pattern Value{
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "81259-4"
          }]
        }
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        84. Observation.component:predicted-phenotype.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortPhenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPOActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control10..1
        Binding

        Multiple bindings accepted

        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        86. Observation.component:mode-of-inheritance
        Slice Namemode-of-inheritance
        Definition

        The transmission pattern of the condition/phenotype in a pedigree. Values originally curated by GA4GH.


        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortMode of InheritanceComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        88. Observation.component:mode-of-inheritance.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        90. Observation.component:mode-of-inheritance.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        92. Observation.component:mode-of-inheritance.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        Shortcondition-inheritanceType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Pattern Value{
          "coding" : [{
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "condition-inheritance"
          }]
        }
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        94. Observation.component:mode-of-inheritance.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortAutosomal dominant | Autosomal recessive | X-linked | ... (more)Actual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control10..1
        BindingThe codes SHOULD be taken from For codes, see Condition Inheritance Patterns
        (preferred to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs)
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        96. Observation.component:evidenceLevel
        Slice NameevidenceLevel
        Definition

        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        98. Observation.component:evidenceLevel.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        100. Observation.component:evidenceLevel.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        102. Observation.component:evidenceLevel.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        ShortType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        104. Observation.component:evidenceLevel.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control0..1
        BindingThe codes SHALL be taken from For codes, see Level of Evidence Value Set
        (required to https://github.com/BIH-CEI/RareLink/ValueSet/level-of-evidence-vs)
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        106. Observation.component:clinicalSignificance
        Slice NameclinicalSignificance
        Definition

        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        108. Observation.component:clinicalSignificance.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        110. Observation.component:clinicalSignificance.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        112. Observation.component:clinicalSignificance.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        ShortType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        114. Observation.component:clinicalSignificance.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control0..1
        BindingThe codes SHALL be taken from For codes, see Clinical Significance Value Set
        (required to https://github.com/BIH-CEI/RareLink/ValueSet/clinical-significance-vs)
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        116. Observation.component:predictedPhenotype
        Slice NamepredictedPhenotype
        Definition

        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..1*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        118. Observation.component:predictedPhenotype.extension:workflow-relatedArtifactComponent
        Slice Nameworkflow-relatedArtifactComponent
        Definition

        Use the RelatedArtifact at the Observation.component element (not valid in the R4 extension)

        ShortRelated Artifact for Observation component
        Control0..*
        This element is affected by the following invariants: ele-1
        TypeExtension(Related Artifact for Observation component) (Extension Type: RelatedArtifact)
        Is Modifierfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        120. Observation.component:predictedPhenotype.modifierExtension
        Definition

        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

        ShortExtensions that cannot be ignored even if unrecognized
        Comments

        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        Requirements

        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        122. Observation.component:predictedPhenotype.code
        Definition

        Describes what was observed. Sometimes this is called the observation "code".

        ShortType of component observation (code / type)
        Comments

        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

        Control1..1
        BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes
        (example to http://hl7.org/fhir/ValueSet/observation-codes)

        Codes identifying names of simple observations.

        TypeCodeableConcept
        Is Modifierfalse
        Summarytrue
        Requirements

        Knowing what kind of observation is being made is essential to understanding the observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        124. Observation.component:predictedPhenotype.value[x]
        Definition

        The information determined as a result of making the observation, if the information has a simple value.

        ShortActual component result
        Comments

        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control0..1
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        126. Observation.component:predictedPhenotype.value[x].coding
        Definition

        A reference to a code defined by a terminology system.

        ShortCode defined by a terminology system
        Comments

        Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

        Control0..*
        TypeCoding
        Is Modifierfalse
        Summarytrue
        Requirements

        Allows for alternative encodings within a code system, and translations to other code systems.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        SlicingThis element introduces a set of slices on Observation.component.value[x].coding. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
        • value @ system
        • 128. Observation.component:predictedPhenotype.value[x].coding:mondo
          Slice Namemondo
          Definition

          A reference to a code defined by a terminology system.

          ShortCode defined by a terminology system
          Comments

          Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

          Control0..*
          TypeCoding
          Is Modifierfalse
          Summarytrue
          Requirements

          Allows for alternative encodings within a code system, and translations to other code systems.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          130. Observation.component:predictedPhenotype.value[x].coding:mondo.system
          Definition

          The identification of the code system that defines the meaning of the symbol in the code.

          ShortIdentity of the terminology system
          Comments

          The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

          Control10..1
          Typeuri
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Requirements

          Need to be unambiguous about the source of the definition of the symbol.

          Fixed Valuehttp://purl.obolibrary.org/obo/mondo.owl
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          132. Observation.component:predictedPhenotype.value[x].coding:omim
          Slice Nameomim
          Definition

          A reference to a code defined by a terminology system.

          ShortCode defined by a terminology system
          Comments

          Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

          Control0..*
          TypeCoding
          Is Modifierfalse
          Summarytrue
          Requirements

          Allows for alternative encodings within a code system, and translations to other code systems.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          134. Observation.component:predictedPhenotype.value[x].coding:omim.system
          Definition

          The identification of the code system that defines the meaning of the symbol in the code.

          ShortIdentity of the terminology system
          Comments

          The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

          Control10..1
          Typeuri
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Requirements

          Need to be unambiguous about the source of the definition of the symbol.

          Fixed Valuehttp://omim.org
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))