Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: Variant - Detailed Descriptions

Active as of 2024-07-15

Definitions for the variant resource profile.

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

0. Observation
ShortVariant
2. Observation.code
Short69548-6
Pattern Value{
  "coding" : [{
    "system" : "http://loinc.org",
    "code" : "69548-6"
  }]
}
4. Observation.value[x]
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • type @ $this
  • 6. Observation.value[x]:valueCodeableConcept
    Slice NamevalueCodeableConcept
    Definition

    The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.

    ShortIndeterminate | No call | Present | Absent.
    Comments

    See here for usage guidance.

    Control0..1
    BindingThe codes SHALL be taken from LOINC Answer List LL1971-2
    (required to http://loinc.org/vs/LL1971-2)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    8. Observation.method
    ShortSequencing | SNP array | PCR | Computational analysis | ...
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4048-6
    (extensible to http://loinc.org/vs/LL4048-6)
    10. Observation.component:representative-coding-hgvs
    Slice Namerepresentative-coding-hgvs
    Definition

    Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.

    ShortDNA change (c.HGVS)
    Control0..1
    12. Observation.component:representative-coding-hgvs.code
    Short48004-6
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48004-6"
      }]
    }
    14. Observation.component:representative-coding-hgvs.value[x]
    ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
    Control1..?
    BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
    (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    16. Observation.component:genomic-hgvs
    Slice Namegenomic-hgvs
    Definition

    Description of the genomic (gDNA) sequence change using a valid HGVS-formatted string.

    ShortGenomic (gDNA) Change - gHGVS
    Control0..1
    18. Observation.component:genomic-hgvs.code
    Short81290-9
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81290-9"
      }]
    }
    20. Observation.component:genomic-hgvs.value[x]
    ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
    Control1..?
    BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
    (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    22. Observation.component:cytogenomic-nomenclature
    Slice Namecytogenomic-nomenclature
    Definition

    Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.

    ShortCytogenomic Nomenclature (ISCN)
    Control0..1
    24. Observation.component:cytogenomic-nomenclature.code
    Short81291-7
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81291-7"
      }]
    }
    26. Observation.component:cytogenomic-nomenclature.value[x]
    Control1..?
    Binding

    Binding not yet defined

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    28. Observation.component:genomic-ref-seq
    Slice Namegenomic-ref-seq
    Definition

    ID of the genomic reference sequence, which includes transcribed and non transcribed stretches

    ShortGenomic Reference Sequence
    Control0..1
    30. Observation.component:genomic-ref-seq.code
    Short48013-7
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48013-7"
      }]
    }
    32. Observation.component:genomic-ref-seq.value[x]
    ShortVersioned genomic reference sequence identifier
    Control1..?
    Binding

    Multiple bindings acceptable (NCBI or LRG)

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    34. Observation.component:representative-protein-ref-seq
    Slice Namerepresentative-protein-ref-seq
    Definition

    ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.

    ShortProtein Reference Sequence
    Control0..1
    36. Observation.component:representative-protein-ref-seq.code
    Shortprotein-ref-seq
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "protein-ref-seq"
      }]
    }
    38. Observation.component:representative-protein-ref-seq.value[x]
    ShortVersioned protein reference sequence identifier
    Control1..?
    Binding

    Multiple bindings acceptable (NCBI or LRG)

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    40. Observation.component:representative-transcript-ref-seq
    Slice Namerepresentative-transcript-ref-seq
    Definition

    NCBI's RefSeq ('NM_...'), Ensembl ('ENST...'), and LRG ('LRG...' plus 't1' to indicate transcript)

    ShortReference Transcript
    Control0..1
    42. Observation.component:representative-transcript-ref-seq.code
    Short51958-7
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "51958-7"
      }]
    }
    44. Observation.component:representative-transcript-ref-seq.value[x]
    ShortVersioned transcript reference sequence identifier
    Control1..?
    Binding

    Multiple bindings acceptable (NCBI or LRG)

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    46. Observation.component:exact-start-end
    Slice Nameexact-start-end
    Definition

    The exact integer-based genomic coordinates of the start and end of the variant region.

    ShortExact Start-End
    Control0..1
    48. Observation.component:exact-start-end.code
    Short81254-5
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81254-5"
      }]
    }
    50. Observation.component:exact-start-end.value[x]
    ShortRange in question. 'High' can be omitted for single nucleotide variants.
    TypeRange
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    52. Observation.component:inner-start-end
    Slice Nameinner-start-end
    Definition

    The genomic coordinates of the narrowest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.

    ShortInner Start-End
    Control0..1
    54. Observation.component:inner-start-end.code
    Short81302-2
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81302-2"
      }]
    }
    56. Observation.component:inner-start-end.value[x]
    ShortImprecise variant inner-bounding range
    TypeRange
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    58. Observation.component:outer-start-end
    Slice Nameouter-start-end
    Definition

    The genomic coordinates of the widest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.

    ShortOuter Start-End
    Control0..1
    60. Observation.component:outer-start-end.code
    Short81301-4
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81301-4"
      }]
    }
    62. Observation.component:outer-start-end.value[x]
    ShortImprecise variant outer-bounding range
    TypeRange
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    64. Observation.component:coordinate-system
    Slice Namecoordinate-system
    Definition

    These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.

    ShortCoordinate System
    Control0..1
    66. Observation.component:coordinate-system.code
    Short92822-6
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92822-6"
      }]
    }
    68. Observation.component:coordinate-system.value[x]
    Short0-based interval counting | 0-based character counting | 1-based character counting
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5323-2
    (extensible to http://loinc.org/vs/LL5323-2)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    70. Observation.component:ref-allele
    Slice Nameref-allele
    Definition

    Reference values ('normal') examined within the Reference Sequence.

    ShortGenomic Ref Allele
    Control0..1
    72. Observation.component:ref-allele.code
    Short69547-8
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69547-8"
      }]
    }
    74. Observation.component:ref-allele.value[x]
    ShortNormalized string per the VCF format.
    Typestring
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    76. Observation.component:alt-allele
    Slice Namealt-allele
    Definition

    The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.

    ShortGenomic Alt Allele
    Control0..1
    78. Observation.component:alt-allele.code
    Short69551-0
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69551-0"
      }]
    }
    80. Observation.component:alt-allele.value[x]
    ShortNormalized string per the VCF format.
    Typestring
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    82. Observation.component:coding-change-type
    Slice Namecoding-change-type
    Definition

    Type of DNA change observed. Convenience property for variants with exact breakpoints, required otherwise.

    ShortCoding DNA Change Type
    Control0..1
    84. Observation.component:coding-change-type.code
    Short48019-4
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48019-4"
      }]
    }
    86. Observation.component:coding-change-type.value[x]
    Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from DNA Change Type
    (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

    Concepts in sequence ontology under SO:0002072

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    88. Observation.component:genomic-source-class
    Slice Namegenomic-source-class
    Definition

    The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

    ShortGenomic Source Class
    Control0..1
    90. Observation.component:genomic-source-class.code
    Short48002-0
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48002-0"
      }]
    }
    92. Observation.component:genomic-source-class.value[x]
    ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL378-1
    (extensible to http://loinc.org/vs/LL378-1)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    94. Observation.component:sample-allelic-frequency
    Slice Namesample-allelic-frequency
    Definition

    The relative frequency of the allele at a given locus in the sample.

    ShortSample Allelic Frequency
    Control0..1
    96. Observation.component:sample-allelic-frequency.code
    Short81258-6
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81258-6"
      }]
    }
    98. Observation.component:sample-allelic-frequency.value[x]
    ShortRelative frequency in the sample
    TypeQuantity
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    100. Observation.component:sample-allelic-frequency.value[x].system
    Pattern Valuehttp://unitsofmeasure.org
    102. Observation.component:allelic-read-depth
    Slice Nameallelic-read-depth
    Definition

    Specifies the number of reads that identified the allele in question whether it consists of one or a small sequence of contiguous nucleotides. Different methods and purposes require different numbers of reads to be acceptable. Often >400, sometimes as few as 2-4.

    ShortAllelic Read Depth
    Comments

    See here for usage guidance.

    Control0..1
    104. Observation.component:allelic-read-depth.code
    Short82121-5
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "82121-5"
      }]
    }
    106. Observation.component:allelic-read-depth.value[x]
    ShortUnfiltered count of supporting reads
    TypeQuantity
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    108. Observation.component:allelic-state
    Slice Nameallelic-state
    Definition

    The observed level of occurrence of the variant in the set of chromosomes.

    ShortAllelic State
    Control0..1
    110. Observation.component:allelic-state.code
    Short53034-5
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53034-5"
      }]
    }
    112. Observation.component:allelic-state.value[x]
    ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL381-5
    (extensible to http://loinc.org/vs/LL381-5)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    114. Observation.component:variant-inheritance
    Slice Namevariant-inheritance
    Definition

    The source or inheritance of a specific germline variation found in an individual patient.

    ShortOrigin of germline genetic variant
    Control0..1
    116. Observation.component:variant-inheritance.code
    Short94186-4
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "94186-4"
      }]
    }
    118. Observation.component:variant-inheritance.value[x]
    ShortMaternal | Paternal | Unknown
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5489-1
    (extensible to http://loinc.org/vs/LL5489-1)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    120. Observation.component:variant-inheritance-basis
    Slice Namevariant-inheritance-basis
    Definition

    The method by which the variant inheritance is determined.

    ShortEvidential basis for variant inheritance
    Control0..1
    122. Observation.component:variant-inheritance-basis.code
    ShortBasis for allelic phase
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "82309-6"
      }]
    }
    124. Observation.component:variant-inheritance-basis.value[x]
    ShortDirectly measured | Family DNA | Family history | Inferred from population data
    Control1..?
    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4050-2
    (extensible to http://loinc.org/vs/LL4050-2)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    126. Observation.component:variation-code
    Slice Namevariation-code
    Definition

    Accession number in a variant database such as ClinVar, given for cross-reference.

    ShortVariation Code
    Control0..*
    128. Observation.component:variation-code.code
    Short81252-9
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81252-9"
      }]
    }
    130. Observation.component:variation-code.value[x]
    ShortClinVar ID or similar
    Control1..?
    Binding

    Multiple bindings acceptable

    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    132. Observation.component:chromosome-identifier
    Slice Namechromosome-identifier
    Definition

    An indicator, enumerated in humans by numbers 1-22, X, and Y, representing the chromosome on which the variant is located.

    ShortChromosome Identifier
    Control0..*
    134. Observation.component:chromosome-identifier.code
    Short48000-4
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48000-4"
      }]
    }
    136. Observation.component:chromosome-identifier.value[x]
    ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
    Control1..?
    BindingThe codes SHALL be taken from LOINC Answer List LL2938-0
    (required to http://loinc.org/vs/LL2938-0)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    138. Observation.component:representative-protein-hgvs
    Slice Namerepresentative-protein-hgvs
    Definition

    Description of the protein (amino acid) sequence change using a valid HGVS-formatted string. The description of the variant is surrounded in parentheses if it is calculated rather than directly observed.

    ShortProtein (Amino Acid) Change - pHGVS
    Control0..1
    140. Observation.component:representative-protein-hgvs.code
    Short48005-3
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48005-3"
      }]
    }
    142. Observation.component:representative-protein-hgvs.value[x]
    ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
    Control1..?
    BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
    (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    144. Observation.component:copy-number
    Slice Namecopy-number
    Definition

    The copy number of the large variant. In HGVS, this is the numeric value following the “X”. It is a unit-less value. If the value determined by the assay is not a whole number, a range or decimal number can be specified. Note that a copy number of 1 can imply a deletion.

    ShortGenomic Structural Variant Copy Number
    Comments

    Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

    In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.

    Control0..1
    Requirements

    There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.

    146. Observation.component:copy-number.code
    Short82155-3
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "82155-3"
      }]
    }
    148. Observation.component:copy-number.value[x]
    TypeChoice of: Quantity, Range
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    150. Observation.component:variant-confidence-status
    Slice Namevariant-confidence-status
    Definition

    A code that represents the confidence of a true positive variant call.

    ShortVariant Confidence Status
    Comments

    See here for usage guidance.

    Control0..1
    152. Observation.component:variant-confidence-status.code
    Shortvariant-confidence-status
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "variant-confidence-status"
      }]
    }
    154. Observation.component:variant-confidence-status.value[x]
    ShortHigh | Intermediate | Low
    Control1..?
    BindingThe codes SHALL be taken from Variant Confidence Status
    (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs)
    TypeCodeableConcept
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    156. Observation.component:repeat-motif
    Slice Namerepeat-motif
    Definition

    Nucleotides of a repeat expansion motif.

    ShortRepeat Motif
    Control0..*
    158. Observation.component:repeat-motif.extension:repeat-motif-order
    Slice Namerepeat-motif-order
    Comments

    If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

    Control0..1
    TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
    Requirements

    The value must be a natural number starting from 1 and increasing sequentially

    160. Observation.component:repeat-motif.code
    Shortrepeat-motif
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "repeat-motif"
      }]
    }
    162. Observation.component:repeat-motif.value[x]
    ShortCAG
    Control1..?
    Typestring
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    164. Observation.component:repeat-number
    Slice Namerepeat-number
    Definition

    Number of repeats of a repeat expansion.

    ShortRepeat Number
    Control0..*
    166. Observation.component:repeat-number.extension:repeat-motif-order
    Slice Namerepeat-motif-order
    Comments

    If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

    Control0..1
    TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
    Requirements

    The value must be a natural number starting from 1 and increasing sequentially

    168. Observation.component:repeat-number.code
    Shortrepeat-number
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "repeat-number"
      }]
    }
    170. Observation.component:repeat-number.value[x]
    Short40
    Control1..?
    TypeQuantity
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]

    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.

    ShortVariantMeasurements 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.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())
    10. 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.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    12. 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
    • 14. 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()))
      16. 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()))
      18. 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()))
      20. 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()))
      22. Observation.code
      Definition

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

      Short69548-6Type 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://loinc.org",
          "code" : "69548-6"
        }]
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      24. 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..1
      This element is affected by the following invariants: obs-7
      TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
      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()))
      SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • type @ $this
      • 26. Observation.value[x]:valueCodeableConcept
        Slice NamevalueCodeableConcept
        Definition

        The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.


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

        ShortIndeterminate | No call | Present | Absent.Actual result
        Comments

        See here for usage guidance.


        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..1
        This element is affected by the following invariants: obs-7
        BindingThe codes SHALL be taken from For codes, see LOINC Answer List LL1971-2
        (required to http://loinc.org/vs/LL1971-2)
        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()))
        28. Observation.method
        Definition

        Indicates the mechanism used to perform the observation.

        ShortSequencing | SNP array | PCR | Computational analysis | ...How it was done
        Comments

        Only used if not implicit in code for Observation.code.

        Control0..1
        BindingUnless not suitable, these codes SHALL be taken from For example codes, see LOINC Answer List LL4048-6http://hl7.org/fhir/ValueSet/observation-methods
        (extensible to http://loinc.org/vs/LL4048-6)
        TypeCodeableConcept
        Is Modifierfalse
        Summaryfalse
        Requirements

        In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

        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.

        Control0..*
        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.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:
          • pattern @ code
          • 34. 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())
            36. 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()))
            38. 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()))
            40. 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())
            42. 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()))
            44. Observation.component:gene-studied
            Slice Namegene-studied
            Definition

            The gene(s) on which the variant is located.


            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.

            ShortGene StudiedComponent 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()))
            46. Observation.component:gene-studied.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())
            48. Observation.component:gene-studied.code
            Definition

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

            Short48018-6Type 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" : "48018-6"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            50. Observation.component:gene-studied.value[x]
            Definition

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

            ShortThe 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.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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC)
            (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-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()))
            52. Observation.component:cytogenetic-location
            Slice Namecytogenetic-location
            Definition

            The relevant chromosomal region. The combination of numbers and letters provide a genetic 'address'.


            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.

            ShortCytogenetic (Chromosome) LocationComponent 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()))
            54. Observation.component:cytogenetic-location.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:cytogenetic-location.code
            Definition

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

            Short48001-2Type 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" : "48001-2"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            58. Observation.component:cytogenetic-location.value[x]
            Definition

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

            ShortExample: 1q21.1Actual 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
            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()))
            60. Observation.component:reference-sequence-assembly
            Slice Namereference-sequence-assembly
            Definition

            The reference genome/assembly used in this analysis.


            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.

            ShortHuman Reference Sequence AssemblyComponent 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()))
            62. Observation.component:reference-sequence-assembly.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())
            64. Observation.component:reference-sequence-assembly.code
            Definition

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

            Short62374-4Type 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" : "62374-4"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            66. Observation.component:reference-sequence-assembly.value[x]
            Definition

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

            ShortGRCh37 | GRCh38 | ...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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL1040-6
            (extensible to http://loinc.org/vs/LL1040-6)
            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()))
            68. Observation.component:representative-coding-hgvs
            Slice Namerepresentative-coding-hgvs
            Definition

            Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.


            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.

            ShortDNA change (c.HGVS)Component 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()))
            70. Observation.component:representative-coding-hgvs.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:representative-coding-hgvs.code
            Definition

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

            Short48004-6Type 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" : "48004-6"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            74. Observation.component:representative-coding-hgvs.value[x]
            Definition

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

            ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.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 SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
            (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-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()))
            76. Observation.component:genomic-hgvs
            Slice Namegenomic-hgvs
            Definition

            Description of the genomic (gDNA) sequence change using a valid HGVS-formatted string.


            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.

            ShortGenomic (gDNA) Change - gHGVSComponent 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()))
            78. Observation.component:genomic-hgvs.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())
            80. Observation.component:genomic-hgvs.code
            Definition

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

            Short81290-9Type 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" : "81290-9"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            82. Observation.component:genomic-hgvs.value[x]
            Definition

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

            ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dupActual 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 SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
            (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-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()))
            84. Observation.component:cytogenomic-nomenclature
            Slice Namecytogenomic-nomenclature
            Definition

            Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.


            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.

            ShortCytogenomic Nomenclature (ISCN)Component 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()))
            86. Observation.component:cytogenomic-nomenclature.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())
            88. Observation.component:cytogenomic-nomenclature.code
            Definition

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

            Short81291-7Type 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" : "81291-7"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            90. Observation.component:cytogenomic-nomenclature.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.

            Control10..1
            Binding

            Binding not yet defined

            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()))
            92. Observation.component:genomic-ref-seq
            Slice Namegenomic-ref-seq
            Definition

            ID of the genomic reference sequence, which includes transcribed and non transcribed stretches


            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.

            ShortGenomic Reference SequenceComponent 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()))
            94. Observation.component:genomic-ref-seq.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())
            96. Observation.component:genomic-ref-seq.code
            Definition

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

            Short48013-7Type 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" : "48013-7"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            98. Observation.component:genomic-ref-seq.value[x]
            Definition

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

            ShortVersioned genomic reference sequence identifierActual 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 acceptable (NCBI or LRG)

            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()))
            100. Observation.component:representative-protein-ref-seq
            Slice Namerepresentative-protein-ref-seq
            Definition

            ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.


            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.

            ShortProtein Reference SequenceComponent 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()))
            102. Observation.component:representative-protein-ref-seq.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())
            104. Observation.component:representative-protein-ref-seq.code
            Definition

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

            Shortprotein-ref-seqType 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" : "protein-ref-seq"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            106. Observation.component:representative-protein-ref-seq.value[x]
            Definition

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

            ShortVersioned protein reference sequence identifierActual 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 acceptable (NCBI or LRG)

            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()))
            108. Observation.component:representative-transcript-ref-seq
            Slice Namerepresentative-transcript-ref-seq
            Definition

            NCBI's RefSeq ('NM_...'), Ensembl ('ENST...'), and LRG ('LRG...' plus 't1' to indicate transcript)


            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.

            ShortReference TranscriptComponent 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()))
            110. Observation.component:representative-transcript-ref-seq.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:representative-transcript-ref-seq.code
            Definition

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

            Short51958-7Type 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" : "51958-7"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            114. Observation.component:representative-transcript-ref-seq.value[x]
            Definition

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

            ShortVersioned transcript reference sequence identifierActual 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 acceptable (NCBI or LRG)

            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:exact-start-end
            Slice Nameexact-start-end
            Definition

            The exact integer-based genomic coordinates of the start and end of the variant region.


            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.

            ShortExact Start-EndComponent 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:exact-start-end.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())
            120. Observation.component:exact-start-end.code
            Definition

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

            Short81254-5Type 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" : "81254-5"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            122. Observation.component:exact-start-end.value[x]
            Definition

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

            ShortRange in question. 'High' can be omitted for single nucleotide variants.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.

            Control0..1
            TypeRange, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, CodeableConcept
            [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()))
            124. Observation.component:inner-start-end
            Slice Nameinner-start-end
            Definition

            The genomic coordinates of the narrowest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.


            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.

            ShortInner Start-EndComponent 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()))
            126. Observation.component:inner-start-end.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())
            128. Observation.component:inner-start-end.code
            Definition

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

            Short81302-2Type 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" : "81302-2"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            130. Observation.component:inner-start-end.value[x]
            Definition

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

            ShortImprecise variant inner-bounding rangeActual 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
            TypeRange, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, CodeableConcept
            [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()))
            132. Observation.component:outer-start-end
            Slice Nameouter-start-end
            Definition

            The genomic coordinates of the widest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.


            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.

            ShortOuter Start-EndComponent 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()))
            134. Observation.component:outer-start-end.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())
            136. Observation.component:outer-start-end.code
            Definition

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

            Short81301-4Type 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" : "81301-4"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            138. Observation.component:outer-start-end.value[x]
            Definition

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

            ShortImprecise variant outer-bounding rangeActual 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
            TypeRange, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, CodeableConcept
            [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()))
            140. Observation.component:coordinate-system
            Slice Namecoordinate-system
            Definition

            These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.


            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.

            ShortCoordinate SystemComponent 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()))
            142. Observation.component:coordinate-system.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())
            144. Observation.component:coordinate-system.code
            Definition

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

            Short92822-6Type 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" : "92822-6"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            146. Observation.component:coordinate-system.value[x]
            Definition

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

            Short0-based interval counting | 0-based character counting | 1-based character countingActual 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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5323-2
            (extensible to http://loinc.org/vs/LL5323-2)
            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()))
            148. Observation.component:ref-allele
            Slice Nameref-allele
            Definition

            Reference values ('normal') examined within the Reference Sequence.


            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.

            ShortGenomic Ref AlleleComponent 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()))
            150. Observation.component:ref-allele.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())
            152. Observation.component:ref-allele.code
            Definition

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

            Short69547-8Type 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" : "69547-8"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            154. Observation.component:ref-allele.value[x]
            Definition

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

            ShortNormalized string per the VCF format.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.

            Control0..1
            Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
            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()))
            156. Observation.component:alt-allele
            Slice Namealt-allele
            Definition

            The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.


            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.

            ShortGenomic Alt AlleleComponent 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()))
            158. Observation.component:alt-allele.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())
            160. Observation.component:alt-allele.code
            Definition

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

            Short69551-0Type 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" : "69551-0"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            162. Observation.component:alt-allele.value[x]
            Definition

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

            ShortNormalized string per the VCF format.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.

            Control0..1
            Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
            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()))
            164. Observation.component:coding-change-type
            Slice Namecoding-change-type
            Definition

            Type of DNA change observed. Convenience property for variants with exact breakpoints, required otherwise.


            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.

            ShortCoding DNA Change TypeComponent 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()))
            166. Observation.component:coding-change-type.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())
            168. Observation.component:coding-change-type.code
            Definition

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

            Short48019-4Type 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" : "48019-4"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            170. Observation.component:coding-change-type.value[x]
            Definition

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

            Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see DNA Change Type
            (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

            Concepts in sequence ontology under SO:0002072

            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()))
            172. Observation.component:genomic-source-class
            Slice Namegenomic-source-class
            Definition

            The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.


            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.

            ShortGenomic Source ClassComponent 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()))
            174. Observation.component:genomic-source-class.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())
            176. Observation.component:genomic-source-class.code
            Definition

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

            Short48002-0Type 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" : "48002-0"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            178. Observation.component:genomic-source-class.value[x]
            Definition

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

            ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novoActual 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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL378-1
            (extensible to http://loinc.org/vs/LL378-1)
            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()))
            180. Observation.component:sample-allelic-frequency
            Slice Namesample-allelic-frequency
            Definition

            The relative frequency of the allele at a given locus in the sample.


            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.

            ShortSample Allelic FrequencyComponent 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()))
            182. Observation.component:sample-allelic-frequency.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())
            184. Observation.component:sample-allelic-frequency.code
            Definition

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

            Short81258-6Type 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" : "81258-6"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            186. Observation.component:sample-allelic-frequency.value[x]
            Definition

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

            ShortRelative frequency in the sampleActual 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
            TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
            [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()))
            188. Observation.component:sample-allelic-frequency.value[x].comparator
            Definition

            How the value should be understood and represented - whether the actual value is greater or less than the stated value due to measurement issues; e.g. if the comparator is "<" , then the real value is < stated value.

            Short< | <= | >= | > - how to understand the value
            Control0..1
            BindingThe codes SHALL be taken from QuantityComparatorhttp://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
            (required to http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1)

            How the Quantity should be understood and represented.

            Typecode
            Is Modifiertrue because This is labeled as "Is Modifier" because the comparator modifies the interpretation of the value significantly. If there is no comparator, then there is no modification of the value
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Summarytrue
            Requirements

            Need a framework for handling measures where the value is <5ug/L or >400mg/L due to the limitations of measuring methodology.

            Meaning if MissingIf there is no comparator, then there is no modification of the value
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            190. Observation.component:sample-allelic-frequency.value[x].system
            Definition

            The identification of the system that provides the coded form of the unit.

            ShortSystem that defines coded unit form
            Control0..1
            This element is affected by the following invariants: qty-3
            Typeuri
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Summarytrue
            Requirements

            Need to know the system that defines the coded form of the unit.

            Pattern Valuehttp://unitsofmeasure.org
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            192. Observation.component:allelic-read-depth
            Slice Nameallelic-read-depth
            Definition

            Specifies the number of reads that identified the allele in question whether it consists of one or a small sequence of contiguous nucleotides. Different methods and purposes require different numbers of reads to be acceptable. Often >400, sometimes as few as 2-4.


            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.

            ShortAllelic Read DepthComponent results
            Comments

            See here for usage guidance.


            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()))
            194. Observation.component:allelic-read-depth.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())
            196. Observation.component:allelic-read-depth.code
            Definition

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

            Short82121-5Type 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" : "82121-5"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            198. Observation.component:allelic-read-depth.value[x]
            Definition

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

            ShortUnfiltered count of supporting readsActual 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
            TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
            [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()))
            200. Observation.component:allelic-state
            Slice Nameallelic-state
            Definition

            The observed level of occurrence of the variant in the set of chromosomes.


            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.

            ShortAllelic StateComponent 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()))
            202. Observation.component:allelic-state.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())
            204. Observation.component:allelic-state.code
            Definition

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

            Short53034-5Type 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" : "53034-5"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            206. Observation.component:allelic-state.value[x]
            Definition

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

            ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | HemizygousActual 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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL381-5
            (extensible to http://loinc.org/vs/LL381-5)
            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()))
            208. Observation.component:variant-inheritance
            Slice Namevariant-inheritance
            Definition

            The source or inheritance of a specific germline variation found in an individual patient.


            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.

            ShortOrigin of germline genetic variantComponent 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()))
            210. Observation.component:variant-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())
            212. Observation.component:variant-inheritance.code
            Definition

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

            Short94186-4Type 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" : "94186-4"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            214. Observation.component:variant-inheritance.value[x]
            Definition

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

            ShortMaternal | Paternal | UnknownActual 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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5489-1
            (extensible to http://loinc.org/vs/LL5489-1)
            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()))
            216. Observation.component:variant-inheritance-basis
            Slice Namevariant-inheritance-basis
            Definition

            The method by which the variant inheritance is determined.


            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.

            ShortEvidential basis for variant 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()))
            218. Observation.component:variant-inheritance-basis.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())
            220. Observation.component:variant-inheritance-basis.code
            Definition

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

            ShortBasis for allelic phaseType 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" : "82309-6"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            222. Observation.component:variant-inheritance-basis.value[x]
            Definition

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

            ShortDirectly measured | Family DNA | Family history | Inferred from population dataActual 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
            BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL4050-2
            (extensible to http://loinc.org/vs/LL4050-2)
            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()))
            224. Observation.component:variation-code
            Slice Namevariation-code
            Definition

            Accession number in a variant database such as ClinVar, given for cross-reference.


            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.

            ShortVariation CodeComponent 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()))
            226. Observation.component:variation-code.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())
            228. Observation.component:variation-code.code
            Definition

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

            Short81252-9Type 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" : "81252-9"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            230. Observation.component:variation-code.value[x]
            Definition

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

            ShortClinVar ID or similarActual 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 acceptable

            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()))
            232. Observation.component:chromosome-identifier
            Slice Namechromosome-identifier
            Definition

            An indicator, enumerated in humans by numbers 1-22, X, and Y, representing the chromosome on which the variant is located.


            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.

            ShortChromosome IdentifierComponent 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()))
            234. Observation.component:chromosome-identifier.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())
            236. Observation.component:chromosome-identifier.code
            Definition

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

            Short48000-4Type 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" : "48000-4"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            238. Observation.component:chromosome-identifier.value[x]
            Definition

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

            ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome YActual 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 SHALL be taken from For codes, see LOINC Answer List LL2938-0
            (required to http://loinc.org/vs/LL2938-0)
            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()))
            240. Observation.component:representative-protein-hgvs
            Slice Namerepresentative-protein-hgvs
            Definition

            Description of the protein (amino acid) sequence change using a valid HGVS-formatted string. The description of the variant is surrounded in parentheses if it is calculated rather than directly observed.


            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.

            ShortProtein (Amino Acid) Change - pHGVSComponent 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()))
            242. Observation.component:representative-protein-hgvs.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())
            244. Observation.component:representative-protein-hgvs.code
            Definition

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

            Short48005-3Type 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" : "48005-3"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            246. Observation.component:representative-protein-hgvs.value[x]
            Definition

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

            ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)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 SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
            (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-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()))
            248. Observation.component:copy-number
            Slice Namecopy-number
            Definition

            The copy number of the large variant. In HGVS, this is the numeric value following the “X”. It is a unit-less value. If the value determined by the assay is not a whole number, a range or decimal number can be specified. Note that a copy number of 1 can imply a deletion.


            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.

            ShortGenomic Structural Variant Copy NumberComponent results
            Comments

            Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

            In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.


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

            Control0..1*
            TypeBackboneElement
            Is Modifierfalse
            Summarytrue
            Requirements

            There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.


            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()))
            250. Observation.component:copy-number.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())
            252. Observation.component:copy-number.code
            Definition

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

            Short82155-3Type 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" : "82155-3"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            254. Observation.component:copy-number.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
            TypeChoice of: Quantity, Range, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, CodeableConcept
            [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()))
            256. Observation.component:variant-confidence-status
            Slice Namevariant-confidence-status
            Definition

            A code that represents the confidence of a true positive variant call.


            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.

            ShortVariant Confidence StatusComponent results
            Comments

            See here for usage guidance.


            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()))
            258. Observation.component:variant-confidence-status.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())
            260. Observation.component:variant-confidence-status.code
            Definition

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

            Shortvariant-confidence-statusType 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" : "variant-confidence-status"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            262. Observation.component:variant-confidence-status.value[x]
            Definition

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

            ShortHigh | Intermediate | LowActual 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 SHALL be taken from For codes, see Variant Confidence Status
            (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-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()))
            264. Observation.component:repeat-motif
            Slice Namerepeat-motif
            Definition

            Nucleotides of a repeat expansion motif.


            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.

            ShortRepeat MotifComponent 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()))
            266. Observation.component:repeat-motif.extension:repeat-motif-order
            Slice Namerepeat-motif-order
            Definition

            Use to group and order repeat expansion motifs.

            ShortRepeat Motif Order
            Comments

            If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

            Control0..1
            This element is affected by the following invariants: ele-1
            TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
            Is Modifierfalse
            Requirements

            The value must be a natural number starting from 1 and increasing sequentially

            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())
            268. Observation.component:repeat-motif.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())
            270. Observation.component:repeat-motif.code
            Definition

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

            Shortrepeat-motifType 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" : "repeat-motif"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            272. Observation.component:repeat-motif.value[x]
            Definition

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

            ShortCAGActual 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
            Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
            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()))
            274. Observation.component:repeat-number
            Slice Namerepeat-number
            Definition

            Number of repeats of a repeat expansion.


            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.

            ShortRepeat NumberComponent 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()))
            276. Observation.component:repeat-number.extension:repeat-motif-order
            Slice Namerepeat-motif-order
            Definition

            Use to group and order repeat expansion motifs.

            ShortRepeat Motif Order
            Comments

            If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

            Control0..1
            This element is affected by the following invariants: ele-1
            TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
            Is Modifierfalse
            Requirements

            The value must be a natural number starting from 1 and increasing sequentially

            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())
            278. Observation.component:repeat-number.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())
            280. Observation.component:repeat-number.code
            Definition

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

            Shortrepeat-numberType 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" : "repeat-number"
              }]
            }
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            282. Observation.component:repeat-number.value[x]
            Definition

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

            Short40Actual 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
            TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
            [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()))

            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.

            ShortVariant
            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())
            2. Observation.id
            Definition

            The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

            ShortLogical id of this artifact
            Comments

            The only time that a resource does not have an id is when it is being submitted to the server using a create operation.

            Control0..1
            Typeid
            Is Modifierfalse
            Summarytrue
            4. Observation.meta
            Definition

            The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.

            ShortMetadata about the resource
            Control0..1
            TypeMeta
            Is Modifierfalse
            Summarytrue
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            6. 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()))
            8. Observation.language
            Definition

            The base language in which the resource is written.

            ShortLanguage of the resource content
            Comments

            Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).

            Control0..1
            BindingThe codes SHOULD be taken from CommonLanguages
            (preferred to http://hl7.org/fhir/ValueSet/languages)

            A human language.

            Additional BindingsPurpose
            AllLanguagesMax Binding
            Typecode
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Summaryfalse
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            10. Observation.text
            Definition

            A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.

            ShortText summary of the resource, for human interpretation
            Comments

            Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.

            Control0..1
            TypeNarrative
            Is Modifierfalse
            Summaryfalse
            Alternate Namesnarrative, html, xhtml, display
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            12. Observation.contained
            Definition

            These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.

            ShortContained, inline Resources
            Comments

            This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.

            Control0..*
            TypeResource
            Is Modifierfalse
            Summaryfalse
            Alternate Namesinline resources, anonymous resources, contained resources
            14. Observation.extension
            Definition

            An Extension

            ShortExtension
            Control0..*
            TypeExtension
            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())
            SlicingThis element introduces a set of slices on Observation.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
            • pattern @ url
            • 16. 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())
              18. 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())
              20. 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())
              22. Observation.identifier
              Definition

              A unique identifier assigned to this observation.

              ShortBusiness Identifier for observation
              NoteThis is a business identifier, not a resource identifier (see discussion)
              Control0..*
              TypeIdentifier
              Is Modifierfalse
              Summarytrue
              Requirements

              Allows observations to be distinguished and referenced.

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

              A plan, proposal or order that is fulfilled in whole or in part by this event. For example, a MedicationRequest may require a patient to have laboratory test performed before it is dispensed.

              ShortFulfills plan, proposal or order
              Control0..*
              TypeReference(CarePlan, DeviceRequest, ImmunizationRecommendation, MedicationRequest, NutritionOrder, ServiceRequest)
              Is Modifierfalse
              Summarytrue
              Requirements

              Allows tracing of authorization for the event and tracking whether proposals/recommendations were acted upon.

              Alternate NamesFulfills
              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
              26. Observation.partOf
              Definition

              A larger event of which this particular Observation is a component or step. For example, an observation as part of a procedure.

              ShortPart of referenced event
              Comments

              To link an Observation to an Encounter use encounter. See the Notes below for guidance on referencing another Observation.

              Control0..*
              TypeReference(MedicationAdministration, MedicationDispense, MedicationStatement, Procedure, Immunization, ImagingStudy, Genomic Study)
              Is Modifierfalse
              Summarytrue
              Alternate NamesContainer
              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
              28. 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 ObservationStatus
              (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.

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

              Control2..*
              BindingThe codes SHOULD be taken from ObservationCategoryCodes
              (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
              • 32. 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.

                Control1..1
                BindingThe codes SHOULD be taken from ObservationCategoryCodes
                (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()))
                34. Observation.category:labCategory.id
                Definition

                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                ShortUnique id for inter-element referencing
                Control0..1
                Typestring
                Is Modifierfalse
                XML FormatIn the XML format, this property is represented as an attribute.
                Summaryfalse
                36. Observation.category:labCategory.extension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element. 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.

                ShortAdditional content defined by implementations
                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 Modifierfalse
                Summaryfalse
                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())
                SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                • value @ url
                • 38. 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.

                  Control1..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()))
                  40. Observation.category:labCategory.text
                  Definition

                  A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                  ShortPlain text representation of the concept
                  Comments

                  Very often the text is the same as a displayName of one of the codings.

                  Control0..1
                  Typestring
                  Is Modifierfalse
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Summarytrue
                  Requirements

                  The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  42. 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.

                  Control1..1
                  BindingThe codes SHOULD be taken from ObservationCategoryCodes
                  (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()))
                  44. Observation.category:geCategory.id
                  Definition

                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                  ShortUnique id for inter-element referencing
                  Control0..1
                  Typestring
                  Is Modifierfalse
                  XML FormatIn the XML format, this property is represented as an attribute.
                  Summaryfalse
                  46. Observation.category:geCategory.extension
                  Definition

                  May be used to represent additional information that is not part of the basic definition of the element. 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.

                  ShortAdditional content defined by implementations
                  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 Modifierfalse
                  Summaryfalse
                  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())
                  SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                  • value @ url
                  • 48. 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.

                    Control1..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()))
                    50. Observation.category:geCategory.text
                    Definition

                    A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                    ShortPlain text representation of the concept
                    Comments

                    Very often the text is the same as a displayName of one of the codings.

                    Control0..1
                    Typestring
                    Is Modifierfalse
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Requirements

                    The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

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

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

                    Short69548-6
                    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 LOINCCodes
                    (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://loinc.org",
                        "code" : "69548-6"
                      }]
                    }
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    54. Observation.subject
                    Definition

                    The patient, or group of patients, location, or device this observation is about and into whose record the observation is placed. If the actual focus of the observation is different from the subject (or a sample of, part, or region of the subject), the focus element or the code itself specifies the actual focus of the observation.

                    ShortWho and/or what the observation is about
                    Comments

                    One would expect this element to be a cardinality of 1..1. The only circumstance in which the subject can be missing is when the observation is made by a device that does not know the patient. In this case, the observation SHALL be matched to a patient through some context/channel matching technique, and at this point, the observation should be updated.

                    Control0..1
                    TypeReference(Patient, Group, Device, Location)
                    Is Modifierfalse
                    Summarytrue
                    Requirements

                    Observations have no value if you don't know who or what they're about.

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

                    The actual focus of an observation when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, fetus, or donor. For example, fetus observations in a mother's record. The focus of an observation could also be an existing condition, an intervention, the subject's diet, another observation of the subject, or a body structure such as tumor or implanted device. An example use case would be using the Observation resource to capture whether the mother is trained to change her child's tracheostomy tube. In this example, the child is the patient of record and the mother is the focus.

                    ShortWhat the observation is about, when it is not about the subject of record
                    Comments

                    Typically, an observation is made about the subject - a patient, or group of patients, location, or device - and the distinction between the subject and what is directly measured for an observation is specified in the observation code itself ( e.g., "Blood Glucose") and does not need to be represented separately using this element. Use specimen if a reference to a specimen is required. If a code is required instead of a resource use either bodysite for bodysites or the standard extension focusCode.

                    Control0..*
                    TypeReference(Resource)
                    Is Modifierfalse
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    58. Observation.encounter
                    Definition

                    The healthcare event (e.g. a patient and healthcare provider interaction) during which this observation is made.

                    ShortHealthcare event during which this observation is made
                    Comments

                    This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).

                    Control0..1
                    TypeReference(Encounter)
                    Is Modifierfalse
                    Summarytrue
                    Requirements

                    For some observations it may be important to know the link between an observation and a particular encounter.

                    Alternate NamesContext
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    60. Observation.effective[x]
                    Definition

                    The time or time-period the observed value is asserted as being true. For biological subjects - e.g. human patients - this is usually called the "physiologically relevant time". This is usually either the time of the procedure or of specimen collection, but very often the source of the date/time is not known, only the date/time itself.

                    ShortClinically relevant time/time-period for observation
                    Comments

                    At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

                    Control0..1
                    TypeChoice of: dateTime, Period, Timing, instant
                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                    Is Modifierfalse
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Requirements

                    Knowing when an observation was deemed true is important to its relevance as well as determining trends.

                    Alternate NamesOccurrence
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    62. Observation.issued
                    Definition

                    The date and time this version of the observation was made available to providers, typically after the results have been reviewed and verified.

                    ShortDate/Time this version was made available
                    Comments

                    For Observations that don’t require review and verification, it may be the same as the lastUpdated time of the resource itself. For Observations that do require review and verification for certain updates, it might not be the same as the lastUpdated time of the resource itself due to a non-clinically significant update that doesn’t require the new version to be reviewed and verified again.

                    Control0..1
                    Typeinstant
                    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()))
                    64. Observation.performer
                    Definition

                    Who was responsible for asserting the observed value as "true".

                    ShortWho is responsible for the observation
                    Control0..*
                    TypeReference(Practitioner, PractitionerRole, Organization, CareTeam, Patient, RelatedPerson)
                    Is Modifierfalse
                    Summarytrue
                    Requirements

                    May give a degree of confidence in the observation and also indicates where follow-up questions should be directed.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    66. 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..1
                    This element is affected by the following invariants: obs-7
                    TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                    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()))
                    SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                    • type @ $this
                    • 68. Observation.value[x]:valueCodeableConcept
                      Slice NamevalueCodeableConcept
                      Definition

                      The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.

                      ShortIndeterminate | No call | Present | Absent.
                      Comments

                      See here for usage guidance.

                      Control0..1
                      This element is affected by the following invariants: obs-7
                      BindingThe codes SHALL be taken from LOINC Answer List LL1971-2
                      (required to http://loinc.org/vs/LL1971-2)
                      TypeCodeableConcept
                      [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()))
                      70. Observation.dataAbsentReason
                      Definition

                      Provides a reason why the expected value in the element Observation.value[x] is missing.

                      ShortWhy the result is missing
                      Comments

                      Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "specimen unsatisfactory".

                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.

                      Control0..1
                      This element is affected by the following invariants: obs-6
                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                      Codes specifying why the result (Observation.value[x]) is missing.

                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      For many results it is necessary to handle exceptional values in measurements.

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

                      A categorical assessment of an observation value. For example, high, low, normal.

                      ShortHigh, low, normal, etc.
                      Comments

                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                      Control0..*
                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                      Codes identifying interpretations of observations.

                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                      Alternate NamesAbnormal Flag
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      74. Observation.note
                      Definition

                      A text note which also contains information about who made the statement and when.

                      ShortComments about the Observation that also contain a coded type
                      Comments

                      May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation. The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values. One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.

                      Control0..*
                      This element is affected by the following invariants: ele-1
                      TypeAnnotation(Coded Annotation)
                      Is Modifierfalse
                      Requirements

                      Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.

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

                      Indicates the site on the subject's body where the observation was made (i.e. the target site).

                      ShortObserved body part
                      Comments

                      Only used if not implicit in code found in Observation.code. In many systems, this may be represented as a related observation instead of an inline component.

                      If the use case requires BodySite to be handled as a separate resource (e.g. to identify and track separately) then use the standard extension bodySite.

                      Control0..1
                      BindingFor example codes, see SNOMEDCTBodyStructures
                      (example to http://hl7.org/fhir/ValueSet/body-site)

                      Codes describing anatomical locations. May include laterality.

                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      78. Observation.method
                      Definition

                      Indicates the mechanism used to perform the observation.

                      ShortSequencing | SNP array | PCR | Computational analysis | ...
                      Comments

                      Only used if not implicit in code for Observation.code.

                      Control0..1
                      BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4048-6
                      (extensible to http://loinc.org/vs/LL4048-6)
                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

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

                      The specimen that was used when this observation was made.

                      ShortSpecimen used for this observation
                      Comments

                      Should only be used if not implicit in code found in Observation.code. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).

                      Control0..1
                      TypeReference(Specimen)
                      Is Modifierfalse
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      82. Observation.device
                      Definition

                      The device used to generate the observation data.

                      Short(Measurement) Device
                      Comments

                      Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.

                      Control0..1
                      TypeReference(Device, DeviceMetric)
                      Is Modifierfalse
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      84. Observation.referenceRange
                      Definition

                      Guidance on how to interpret the value by comparison to a normal or recommended range. Multiple reference ranges are interpreted as an "OR". In other words, to represent two distinct target populations, two referenceRange elements would be used.

                      ShortProvides guide for interpretation
                      Comments

                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                      Control0..*
                      TypeBackboneElement
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      obs-3: Must have at least a low or a high or text (low.exists() or high.exists() or text.exists())
                      86. Observation.referenceRange.id
                      Definition

                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                      ShortUnique id for inter-element referencing
                      Control0..1
                      Typestring
                      Is Modifierfalse
                      XML FormatIn the XML format, this property is represented as an attribute.
                      Summaryfalse
                      88. Observation.referenceRange.extension
                      Definition

                      May be used to represent additional information that is not part of the basic definition of the element. 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.

                      ShortAdditional content defined by implementations
                      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 Modifierfalse
                      Summaryfalse
                      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())
                      90. Observation.referenceRange.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.referenceRange.low
                      Definition

                      The value of the low bound of the reference range. The low bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the low bound is omitted, it is assumed to be meaningless (e.g. reference range is <=2.3).

                      ShortLow Range, if relevant
                      Control0..1
                      This element is affected by the following invariants: obs-3
                      TypeQuantity(SimpleQuantity)
                      Is Modifierfalse
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      94. Observation.referenceRange.high
                      Definition

                      The value of the high bound of the reference range. The high bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the high bound is omitted, it is assumed to be meaningless (e.g. reference range is >= 2.3).

                      ShortHigh Range, if relevant
                      Control0..1
                      This element is affected by the following invariants: obs-3
                      TypeQuantity(SimpleQuantity)
                      Is Modifierfalse
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      96. Observation.referenceRange.type
                      Definition

                      Codes to indicate the what part of the targeted reference population it applies to. For example, the normal or therapeutic range.

                      ShortReference range qualifier
                      Comments

                      This SHOULD be populated if there is more than one range. If this element is not present then the normal range is assumed.

                      Control0..1
                      BindingThe codes SHOULD be taken from ObservationReferenceRangeMeaningCodes
                      (preferred to http://hl7.org/fhir/ValueSet/referencerange-meaning)

                      Code for the meaning of a reference range.

                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      Need to be able to say what kind of reference range this is - normal, recommended, therapeutic, etc., - for proper interpretation.

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

                      Codes to indicate the target population this reference range applies to. For example, a reference range may be based on the normal population or a particular sex or race. Multiple appliesTo are interpreted as an "AND" of the target populations. For example, to represent a target population of African American females, both a code of female and a code for African American would be used.

                      ShortReference range population
                      Comments

                      This SHOULD be populated if there is more than one range. If this element is not present then the normal population is assumed.

                      Control0..*
                      BindingFor example codes, see ObservationReferenceRangeAppliesToCodes
                      (example to http://hl7.org/fhir/ValueSet/referencerange-appliesto)

                      Codes identifying the population the reference range applies to.

                      TypeCodeableConcept
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      Need to be able to identify the target population for proper interpretation.

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

                      The age at which this reference range is applicable. This is a neonatal age (e.g. number of weeks at term) if the meaning says so.

                      ShortApplicable age range, if relevant
                      Control0..1
                      TypeRange
                      Is Modifierfalse
                      Summaryfalse
                      Requirements

                      Some analytes vary greatly over age.

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

                      Text based reference range in an observation which may be used when a quantitative range is not appropriate for an observation. An example would be a reference value of "Negative" or a list or table of "normals".

                      ShortText based reference range in an observation
                      Control0..1
                      Typestring
                      Is Modifierfalse
                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                      Summaryfalse
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      104. Observation.hasMember
                      Definition

                      This observation is a group observation (e.g. a battery, a panel of tests, a set of vital sign measurements) that includes the target as a member of the group.

                      ShortRelated resource that belongs to the Observation group
                      Comments

                      When using this element, an observation will typically have either a value or a set of related resources, although both may be present in some cases. For a discussion on the ways Observations can assembled in groups together, see Notes below. Note that a system may calculate results from QuestionnaireResponse into a final score and represent the score as an Observation.

                      Control0..*
                      TypeReference(Observation, QuestionnaireResponse, MolecularSequence)
                      Is Modifierfalse
                      Summarytrue
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      106. 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.

                      Control0..*
                      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()
                      • 108. 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:
                        • pattern @ code
                        • 110. Observation.component.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          112. Observation.component.extension
                          Definition

                          An Extension

                          ShortExtension
                          Control0..*
                          TypeExtension
                          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())
                          114. 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())
                          116. 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 LOINCCodes
                          (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()))
                          118. Observation.component.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
                          TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          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()))
                          120. Observation.component.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

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

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          124. Observation.component.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

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

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

                          ShortClinical Conclusion
                          Comments

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

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Summarytrue
                          Requirements

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

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

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          130. Observation.component:conclusion-string.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. 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.

                          ShortAdditional content defined by implementations
                          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 Modifierfalse
                          Summaryfalse
                          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())
                          132. 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())
                          134. Observation.component:conclusion-string.code
                          Definition

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

                          Shortconclusion-string
                          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 LOINCCodes
                          (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()))
                          136. Observation.component:conclusion-string.value[x]
                          Definition

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

                          ShortSummary conclusion (interpretation/impression)
                          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
                          Typestring
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          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()))
                          138. Observation.component:conclusion-string.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in mea