minimal Common Oncology Data Elements (mCODE) Implementation Guide
4.0.0-ballot - STU4 Ballot United States of America flag

minimal Common Oncology Data Elements (mCODE) Implementation Guide, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-mCODE-ig/ and changes regularly. See the Directory of published versions

Resource Profile: Genomic Variant Profile

Official URL: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant Version: 4.0.0-ballot
Active as of 2024-04-09 Maturity Level: 1 Computable Name: GenomicVariant
Other Identifiers: OID:2.16.840.1.113883.4.642.40.15.42.19

Details about a set of changes in the tested sample compared to a reference sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation. Variants can be computed relative to reference sequence assembly from which it was identified.

Usage

GenomicVariant SHOULD be sent as part of a GenomicsReport and MAY be sent as a standalone observation.

Conformance

Observation resources associated with an in-scope patient with Observation.code LOINC 69548-6 SHALL conform to this profile. Beyond this requirement, a producer of resources SHOULD ensure that any resource instance associated with an in-scope patient that would reasonably be expected to conform to this profile SHOULD be published in this form.

Usage:

Changes since version true:

  • No changes
  • Formal Views of Profile Content

    Description of Profiles, Differentials, Snapshots and how the different presentations work.

    This structure is derived from Variant

    NameFlagsCard.TypeDescription & Constraintsdoco
    .. Observation 0..* Variant Variant
    ... status S 1..1 code registered | preliminary | final | amended +
    ... category S 1..* CodeableConcept Classification of type of observation
    ... category:labCategory 1..1 CodeableConcept Classification of type of observation
    Required Pattern: At least the following
    .... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ..... system 1..1 uri Identity of the terminology system
    Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
    ..... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: laboratory
    .... coding 1..1 Coding Code defined by a terminology system
    ... subject S 0..1 Reference(Cancer Patient Profile) Who and/or what the observation is about
    ... Slices for effective[x] S 0..1 dateTime, Period, Timing, instant Clinically relevant time/time-period for observation
    Slice: Unordered, Open by type:$this
    .... effective[x]:effectiveDateTime S 0..1 dateTime Clinically relevant time/time-period for observation
    ... value[x] S 0..1 CodeableConcept Actual result
    ... dataAbsentReason S 0..1 CodeableConcept Why the result is missing
    ... method S 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ...
    ... specimen S 0..1 Reference(Human Specimen Profile) Specimen used for this observation
    ... referenceRange 0..* BackboneElement Not used in this profile
    ... hasMember 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Not used in this profile
    ... component S 0..* BackboneElement Component results
    ... component:gene-studied S 0..* BackboneElement Gene Studied
    .... code S 1..1 CodeableConcept 48018-6
    .... value[x] S 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
    ... component:cytogenetic-location S 0..* BackboneElement Cytogenetic (Chromosome) Location
    .... code S 1..1 CodeableConcept 48001-2
    .... value[x] S 1..1 CodeableConcept Example: 1q21.1
    ... component:genomic-hgvs S 0..1 BackboneElement Genomic (gDNA) Change - gHGVS
    .... code S 1..1 CodeableConcept 81290-9
    .... value[x] S 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
    ... component:cytogenomic-nomenclature S 0..1 BackboneElement Cytogenomic Nomenclature (ISCN)
    .... code S 1..1 CodeableConcept 81291-7
    .... value[x] S 1..1 CodeableConcept Actual component result
    ... component:coding-change-type S 0..1 BackboneElement Coding DNA Change Type
    .... code S 1..1 CodeableConcept 48019-4
    .... value[x] S 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
    ... component:genomic-source-class S 0..1 BackboneElement Genomic Source Class
    .... code S 1..1 CodeableConcept 48002-0
    .... value[x] S 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
    ... component:sample-allelic-frequency S 0..1 BackboneElement Sample Allelic Frequency
    .... code S 1..1 CodeableConcept 81258-6
    .... value[x] S 0..1 Quantity Relative frequency in the sample
    ... component:allelic-state S 0..1 BackboneElement Allelic State
    .... code S 1..1 CodeableConcept 53034-5
    .... value[x] S 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
    ... component:variation-code S 0..* BackboneElement Variation Code
    .... code S 1..1 CodeableConcept 81252-9
    .... value[x] S 1..1 CodeableConcept ClinVar ID or similar
    ... component:protein-hgvs S 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS
    .... code S 1..1 CodeableConcept 48005-3
    .... value[x] S 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
    ... component:amino-acid-change-type S 0..1 BackboneElement Amino Acid Change Type
    .... code S 1..1 CodeableConcept 48006-1
    .... value[x] S 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
    ... component:molecular-consequence S 0..1 BackboneElement Molecular Consequence
    .... code S 1..1 CodeableConcept molecular-consequence
    .... value[x] S 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
    ... component:copy-number S 0..1 BackboneElement Genomic Structural Variant Copy Number
    .... code S 1..1 CodeableConcept 82155-3
    .... value[x] S 0..1 Quantity Actual component result

    doco Documentation for this format
    NameFlagsCard.TypeDescription & Constraintsdoco
    .. Observation C 0..* Variant Variant
    obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
    obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
    ... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
    ... secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
    URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
    Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


    ... body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
    URL: http://hl7.org/fhir/StructureDefinition/bodySite
    ... status ?!SΣ 1..1 code registered | preliminary | final | amended +
    Binding: ObservationStatus (required): Codes providing the status of an observation.

    ... Slices for category S 1..* CodeableConcept Classification of type of observation
    Slice: Unordered, Open by value:coding
    Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


    .... category:labCategory 1..1 CodeableConcept Classification of type of observation
    Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



    Required Pattern: At least the following
    ..... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ...... system 1..1 uri Identity of the terminology system
    Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
    ...... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: laboratory
    ..... coding Σ 1..1 Coding Code defined by a terminology system

    Required Pattern: At least the following
    ...... system 1..1 uri Identity of the terminology system
    Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
    ...... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: laboratory
    ... code SΣ 1..1 CodeableConcept 69548-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    .... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ..... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ..... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 69548-6
    ... subject SΣ 0..1 Reference(Cancer Patient Profile) Who and/or what the observation is about
    ... Slices for effective[x] SΣ 0..1 Clinically relevant time/time-period for observation
    Slice: Unordered, Open by type:$this
    .... effectiveDateTime dateTime
    .... effectivePeriod Period
    .... effectiveTiming Timing
    .... effectiveInstant instant
    .... effective[x]:effectiveDateTime SΣ 0..1 dateTime Clinically relevant time/time-period for observation
    ... Slices for value[x] SΣC 0..1 CodeableConcept Actual result
    Slice: Unordered, Closed by type:$this
    .... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent.
    Binding: LOINC Answer List LL1971-2 (required)
    ... dataAbsentReason SC 0..1 CodeableConcept Why the result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ... method S 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ...
    Binding: LOINC Answer List LL4048-6 (extensible)
    ... specimen S 0..1 Reference(Human Specimen Profile) Specimen used for this observation
    ... referenceRange C 0..* BackboneElement Not used in this profile
    obs-3: Must have at least a low or a high or text
    .... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Not used in this profile
    ... Slices for component SΣ 0..* BackboneElement Component results
    Slice: Unordered, Open by pattern:code
    .... component:All Slices Content/Rules for all slices
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
    Binding: LOINCCodes (example): Codes identifying names of simple observations.

    .... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept conclusion-string
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: conclusion-string
    .... component:gene-studied SΣ 0..* BackboneElement Gene Studied
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48018-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48018-6
    ..... value[x] SΣ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
    Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
    .... component:cytogenetic-location SΣ 0..* BackboneElement Cytogenetic (Chromosome) Location
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48001-2
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48001-2
    ..... value[x] SΣ 1..1 CodeableConcept Example: 1q21.1
    .... component:reference-sequence-assembly Σ 0..* BackboneElement Human Reference Sequence Assembly
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 62374-4
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 62374-4
    ..... value[x] Σ 1..1 CodeableConcept GRCh37 | GRCh38 | ...
    Binding: LOINC Answer List LL1040-6 (extensible)
    .... component:coding-hgvs Σ 0..1 BackboneElement Coding (cDNA) Change - cHGVS
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 48004-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48004-6
    ..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
    Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
    .... component:genomic-hgvs SΣ 0..1 BackboneElement Genomic (gDNA) Change - gHGVS
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 81290-9
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81290-9
    ..... value[x] SΣ 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
    Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
    .... component:cytogenomic-nomenclature SΣ 0..1 BackboneElement Cytogenomic Nomenclature (ISCN)
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 81291-7
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81291-7
    ..... value[x] SΣ 1..1 CodeableConcept Actual component result
    Binding: (unbound) (example): Binding not yet defined

    .... component:genomic-ref-seq Σ 0..1 BackboneElement Genomic Reference Sequence
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 48013-7
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48013-7
    ..... value[x] Σ 1..1 CodeableConcept Versioned genomic reference sequence identifier
    Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

    .... component:transcript-ref-seq Σ 0..1 BackboneElement Reference Transcript
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 51958-7
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 51958-7
    ..... value[x] Σ 1..1 CodeableConcept Versioned transcript reference sequence identifier
    Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

    .... component:exact-start-end Σ 0..1 BackboneElement Exact Start-End
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 81254-5
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81254-5
    .... component:inner-start-end Σ 0..1 BackboneElement Inner Start-End
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 81302-2
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81302-2
    .... component:outer-start-end Σ 0..1 BackboneElement Outer Start-End
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 81301-4
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81301-4
    .... component:coordinate-system Σ 0..1 BackboneElement Coordinate System
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 92822-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 92822-6
    ..... value[x] Σ 1..1 CodeableConcept 0-based interval counting | 0-based character counting | 1-based character counting
    Binding: LOINC Answer List LL5323-2 (extensible)
    .... component:ref-allele Σ 0..1 BackboneElement Genomic Ref Allele
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 69547-8
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 69547-8
    .... component:alt-allele Σ 0..1 BackboneElement Genomic Alt Allele
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 69551-0
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 69551-0
    .... component:coding-change-type SΣ 0..1 BackboneElement Coding DNA Change Type
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48019-4
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48019-4
    ..... value[x] SΣ 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
    Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

    .... component:genomic-source-class SΣ 0..1 BackboneElement Genomic Source Class
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48002-0
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48002-0
    ..... value[x] SΣ 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
    Binding: LOINC Answer List LL378-1 (extensible)
    .... component:sample-allelic-frequency SΣ 0..1 BackboneElement Sample Allelic Frequency
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 81258-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81258-6
    ..... value[x] SΣ 0..1 Quantity Relative frequency in the sample
    ...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
    Binding: QuantityComparator (required): How the Quantity should be understood and represented.

    .... component:allelic-read-depth Σ 0..1 BackboneElement Allelic Read Depth
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 82121-5
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 82121-5
    .... component:allelic-state SΣ 0..1 BackboneElement Allelic State
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 53034-5
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 53034-5
    ..... value[x] SΣ 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
    Binding: LOINC Answer List LL381-5 (extensible)
    .... component:variant-inheritance Σ 0..1 BackboneElement Variant Inheritance
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept variant-inheritance
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: variant-inheritance
    ..... value[x] Σ 1..1 CodeableConcept Maternal | Paternal | Unknown
    Binding: Variant Inheritances (extensible)
    .... component:variation-code SΣ 0..* BackboneElement Variation Code
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 81252-9
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 81252-9
    ..... value[x] SΣ 1..1 CodeableConcept ClinVar ID or similar
    Binding: (unbound) (example): Multiple bindings acceptable

    .... component:chromosome-identifier Σ 0..* BackboneElement Chromosome Identifier
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 48000-4
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48000-4
    ..... value[x] Σ 1..1 CodeableConcept Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
    Binding: LOINC Answer List LL2938-0 (required)
    .... component:protein-hgvs SΣ 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48005-3
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48005-3
    ..... value[x] SΣ 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
    Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
    .... component:amino-acid-change-type SΣ 0..1 BackboneElement Amino Acid Change Type
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48006-1
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48006-1
    ..... value[x] SΣ 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
    Binding: LOINC Answer List LL380-7 (extensible)
    .... component:molecular-consequence SΣ 0..1 BackboneElement Molecular Consequence
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept molecular-consequence
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: molecular-consequence
    ..... value[x] SΣ 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
    Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

    .... component:copy-number SΣ 0..1 BackboneElement Genomic Structural Variant Copy Number
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 82155-3
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 82155-3
    ..... value[x] SΣC 0..1 Quantity Actual component result
    cnt-3: There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
    .... component:variant-confidence-status Σ 0..1 BackboneElement Variant Confidence Status
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept variant-confidence-status
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: variant-confidence-status
    ..... value[x] Σ 1..1 CodeableConcept High | Intermediate | Low
    Binding: Variant Confidence Status (required)

    doco Documentation for this format

    Terminology Bindings

    PathConformanceValueSet / CodeURI
    Observation.statusrequiredObservationStatus
    http://hl7.org/fhir/ValueSet/observation-status|4.0.1
    from the FHIR Standard
    Observation.categorypreferredObservationCategoryCodes
    http://hl7.org/fhir/ValueSet/observation-category
    from the FHIR Standard
    Observation.category:labCategorypreferredPattern: laboratory
    http://hl7.org/fhir/ValueSet/observation-category
    from the FHIR Standard
    Observation.codeexamplePattern: LOINC code 69548-6
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
    http://loinc.org/vs/LL1971-2
    Observation.dataAbsentReasonextensibleDataAbsentReason
    http://hl7.org/fhir/ValueSet/data-absent-reason
    from the FHIR Standard
    Observation.methodextensibleLOINC LL4048-6
    http://loinc.org/vs/LL4048-6
    Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:conclusion-string.codeexamplePattern: conclusion-string
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:gene-studied.value[x]extensibleHGNCVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
    Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
    http://loinc.org/vs/LL1040-6
    Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:coding-hgvs.value[x]requiredHGVSVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
    Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:genomic-hgvs.value[x]requiredHGVSVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
    Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:cytogenomic-nomenclature.value[x]example
    Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:genomic-ref-seq.value[x]example
    Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:transcript-ref-seq.value[x]example
    Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
    http://loinc.org/vs/LL5323-2
    Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
    Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
    http://loinc.org/vs/LL378-1
    Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
    http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
    from the FHIR Standard
    Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
    http://loinc.org/vs/LL381-5
    Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
    Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:variation-code.value[x]example
    Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
    http://loinc.org/vs/LL2938-0
    Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:protein-hgvs.value[x]requiredHGVSVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
    Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
    http://loinc.org/vs/LL380-7
    Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
    Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
    http://hl7.org/fhir/ValueSet/observation-codes
    from the FHIR Standard
    Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
    http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
    NameFlagsCard.TypeDescription & Constraintsdoco
    .. Observation C 0..* Variant Variant
    obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
    obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
    ... id Σ 0..1 id Logical id of this artifact
    ... meta Σ 0..1 Meta Metadata about the resource
    ... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
    ... language 0..1 code Language of the resource content
    Binding: CommonLanguages (preferred): A human language.

    Additional BindingsPurpose
    AllLanguages Max Binding
    ... text 0..1 Narrative Text summary of the resource, for human interpretation
    ... contained 0..* Resource Contained, inline Resources
    ... Slices for extension 0..* Extension Extension
    Slice: Unordered, Open by value:url
    ... secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
    URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
    Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


    ... body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
    URL: http://hl7.org/fhir/StructureDefinition/bodySite
    ... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
    ... identifier Σ 0..* Identifier Business Identifier for observation
    ... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
    ... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
    ... status ?!SΣ 1..1 code registered | preliminary | final | amended +
    Binding: ObservationStatus (required): Codes providing the status of an observation.

    ... Slices for category S 1..* CodeableConcept Classification of type of observation
    Slice: Unordered, Open by value:coding
    Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


    .... category:labCategory 1..1 CodeableConcept Classification of type of observation
    Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



    Required Pattern: At least the following
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... system 1..1 uri Identity of the terminology system
    Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
    ...... version 0..1 string Version of the system - if relevant
    ...... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: laboratory
    ...... display 0..1 string Representation defined by the system
    ...... userSelected 0..1 boolean If this coding was chosen directly by the user
    ..... text 0..1 string Plain text representation of the concept
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    Slice: Unordered, Open by value:url
    ..... coding Σ 1..1 Coding Code defined by a terminology system

    Required Pattern: At least the following
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... system 1..1 uri Identity of the terminology system
    Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
    ...... version 0..1 string Version of the system - if relevant
    ...... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: laboratory
    ...... display 0..1 string Representation defined by the system
    ...... userSelected 0..1 boolean If this coding was chosen directly by the user
    ..... text Σ 0..1 string Plain text representation of the concept
    ... code SΣ 1..1 CodeableConcept 69548-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    .... id 0..1 string Unique id for inter-element referencing
    .... extension 0..* Extension Additional content defined by implementations
    .... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ..... version 0..1 string Version of the system - if relevant
    ..... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 69548-6
    ..... display 0..1 string Representation defined by the system
    ..... userSelected 0..1 boolean If this coding was chosen directly by the user
    .... text 0..1 string Plain text representation of the concept
    ... subject SΣ 0..1 Reference(Cancer Patient Profile) Who and/or what the observation is about
    ... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
    ... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
    ... Slices for effective[x] SΣ 0..1 Clinically relevant time/time-period for observation
    Slice: Unordered, Open by type:$this
    .... effectiveDateTime dateTime
    .... effectivePeriod Period
    .... effectiveTiming Timing
    .... effectiveInstant instant
    .... effective[x]:effectiveDateTime SΣ 0..1 dateTime Clinically relevant time/time-period for observation
    ... issued Σ 0..1 instant Date/Time this version was made available
    ... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
    ... Slices for value[x] SΣC 0..1 CodeableConcept Actual result
    Slice: Unordered, Closed by type:$this
    .... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent.
    Binding: LOINC Answer List LL1971-2 (required)
    ... dataAbsentReason SC 0..1 CodeableConcept Why the result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ... note 0..* CodedAnnotation Comments about the Observation that also contain a coded type
    ... bodySite 0..1 CodeableConcept Observed body part
    Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

    ... method S 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ...
    Binding: LOINC Answer List LL4048-6 (extensible)
    ... specimen S 0..1 Reference(Human Specimen Profile) Specimen used for this observation
    ... device 0..1 Reference(Device | DeviceMetric) (Measurement) Device
    ... referenceRange C 0..* BackboneElement Not used in this profile
    obs-3: Must have at least a low or a high or text
    .... id 0..1 string Unique id for inter-element referencing
    .... extension 0..* Extension Additional content defined by implementations
    .... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    .... low C 0..1 SimpleQuantity Low Range, if relevant
    .... high C 0..1 SimpleQuantity High Range, if relevant
    .... type 0..1 CodeableConcept Reference range qualifier
    Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

    .... appliesTo 0..* CodeableConcept Reference range population
    Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


    .... age 0..1 Range Applicable age range, if relevant
    .... text 0..1 string Text based reference range in an observation
    ... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Not used in this profile
    ... derivedFrom Σ 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
    ... Slices for component SΣ 0..* BackboneElement Component results
    Slice: Unordered, Open by pattern:code
    .... component:All Slices Content/Rules for all slices
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
    Binding: LOINCCodes (example): Codes identifying names of simple observations.

    ..... value[x] Σ 0..1 Actual component result
    ...... valueQuantity Quantity
    ...... valueCodeableConcept CodeableConcept
    ...... valueString string
    ...... valueBoolean boolean
    ...... valueInteger integer
    ...... valueRange Range
    ...... valueRatio Ratio
    ...... valueSampledData SampledData
    ...... valueTime time
    ...... valueDateTime dateTime
    ...... valuePeriod Period
    ..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ..... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
    .... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept conclusion-string
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... id 0..1 string Unique id for inter-element referencing
    ....... extension 0..* Extension Additional content defined by implementations
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
    ....... version 0..1 string Version of the system - if relevant
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: conclusion-string
    ....... display 0..1 string Representation defined by the system
    ....... userSelected 0..1 boolean If this coding was chosen directly by the user
    ...... text 0..1 string Plain text representation of the concept
    ..... value[x] Σ 0..1 string Summary conclusion (interpretation/impression)
    ..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ..... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
    .... component:gene-studied SΣ 0..* BackboneElement Gene Studied
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48018-6
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... id 0..1 string Unique id for inter-element referencing
    ....... extension 0..* Extension Additional content defined by implementations
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... version 0..1 string Version of the system - if relevant
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48018-6
    ....... display 0..1 string Representation defined by the system
    ....... userSelected 0..1 boolean If this coding was chosen directly by the user
    ...... text 0..1 string Plain text representation of the concept
    ..... value[x] SΣ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
    Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
    ..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ..... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
    .... component:cytogenetic-location SΣ 0..* BackboneElement Cytogenetic (Chromosome) Location
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code SΣ 1..1 CodeableConcept 48001-2
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... id 0..1 string Unique id for inter-element referencing
    ....... extension 0..* Extension Additional content defined by implementations
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... version 0..1 string Version of the system - if relevant
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 48001-2
    ....... display 0..1 string Representation defined by the system
    ....... userSelected 0..1 boolean If this coding was chosen directly by the user
    ...... text 0..1 string Plain text representation of the concept
    ..... value[x] SΣ 1..1 CodeableConcept Example: 1q21.1
    ..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ..... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
    .... component:reference-sequence-assembly Σ 0..* BackboneElement Human Reference Sequence Assembly
    ..... id 0..1 string Unique id for inter-element referencing
    ..... extension 0..* Extension Additional content defined by implementations
    ..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
    ..... code Σ 1..1 CodeableConcept 62374-4
    Binding: LOINCCodes (example): Codes identifying names of simple observations.


    Required Pattern: At least the following
    ...... id 0..1 string Unique id for inter-element referencing
    ...... extension 0..* Extension Additional content defined by implementations
    ...... coding 1..* Coding Code defined by a terminology system
    Fixed Value: (complex)
    ....... id 0..1 string Unique id for inter-element referencing
    ....... extension 0..* Extension Additional content defined by implementations
    ....... system 1..1 uri Identity of the terminology system
    Fixed Value: http://loinc.org
    ....... version 0..1 string Version of the system - if relevant
    ....... code 1..1 code Symbol in syntax defined by the system
    Fixed Value: 62374-4
    ....... display 0..1 string Representation defined by the system
    ....... userSelected 0..1 boolean If this coding was chosen directly by the user
    ...... text 0..1 string Plain text representation of the concept
    ..... value[x] Σ 1..1 CodeableConcept GRCh37 | GRCh38 | ...
    Binding: LOINC Answer List LL1040-6 (extensible)
    ..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
    Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

    ..... interpretation 0..* CodeableConcept High, low, normal, etc.
    Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


    ..... referenceRange 0..* See referenceRange (Observation) Provides guide for in